DIT- Things to know Flashcards
Loss of pain and temp on C/L body Loss of pain and temp on ipsl face Hoarseness Difficulty swallowing Loss of gag reflex Vertigo Nystagmus N/V
Lateral Medullary syndrome (Wallenberg)
Lateral Medullary syndrome (Wallenberg) (6)
Spinothalamic tract damage
- Loss of pain and temp sensation over c/l body
Spinal Trigeminal nucleus damage
- Loss of pain and temp sensation over ipsl face
CN IX and X damage
- Hoarseness, difficulty swallow, loss of gag reflex
Descending sympathetic tract
- Ipsilateral Horner syndrome
Vestibular nuclei damage
- Vertigo, nystagmus, N/V
Inferior cerebellar peduncle damage
- Ipsilateral cerebellar deficits
(ataxia, past pointing)
Vessel occluded in stroke of lateral medulla
PICA
Internuclear opthalmoplegia
Medial longitudinal fasciculus
Eyes dont track together
Medial rectus palsy (right)
Left eye: horizontal nystagmus
Abducting eye: nystagmus
Adducting eye: unable to adduct
Locked in syndrome
Can only move eyes
basilar A. stroke affects both sides of superior pons
Dysphagia Dysphonia Dysarthria C/L spastic hemiparesis Ipsl ptosis Pupillary dilation Lateral strabismus (down and out)
Weber syndrome
Anterior midbrain infarction resulting from occlusion of paramedian branches of the posterior cerebral artery
Oculomotor nerve
Cerebral peduncle lesion
Lumbar puncture layers (9)
- Skin/ superficial fascia
- Supraspinous lig
- Interspinous lig
- Ligamentum Flavum
- Epidural space
- Dura mater
- Subdural space
- Arachnoid membrane
- Subarachnoid space
Last place blood from brain travels before exiting cranium through jugular foramen
-becomes
Sigmoid sinus
Internal jugular vein
Carotid sheath contains (3)
Internal jugular v.
Common carotid A.
Vagus n.
Clinical features of normal pressure hydrocephalus
Wet wacky wobbly
Urinary incontinence
Dementia
Gait disturbances
Magnetic gait
Normal pressure hydrocephalus
Wet wacky wobbly
Urinary incontinence
Dementia
Gait disturbances
Fetal component that secretes hCG
Synctiotrophoblast
Maternal component of the placenta
Decidua basalis
Migraines are made worse by foods that contain
Tyramine
Jaw muscle pain when chewing
Giant cell arteritis
Temporal arteritis
Pt using topical retinoic acid for acne
Vit A toxicity –>
Idiopathic intracranial HTN
Elevated ESR headache
Giant cell arteritis
Headache + Extraocular muscular palsies
Cavernous sinus thrombosis
Scintillating scotomata prior to HA
Migraine
Stages that an embryo goes through between conception and development of inner cell mass
Zygote –> Morula –> blastocyst
Adult brain tumor pneumonic
MGM studios
Metastasis
Glioblastoma
Meningioma
Schwannoma
Pediatric brain tumor pneumonic
Animal kingdom
Magic kingdom
EpCot
Prepubescent minds eaten with cancer
Pilocytic astrocytoma
Medulloblastoma
Ependymoma
Craniopharyngioma
Rapidly progressive primary brain tumor Irregular necrotic center Surrounded by edema GFAP stain Pseudopalasating pattern "snake like"
Glioblastoma
Slow growing primary brain tumor
“Whorled”
Surface of brain
Psammoma bodies
- originates
- risk
Meningioma
Arachnoid cells
Risk
- Radiation
- Neurofibromatous type 2
Benign brain tumor
S-100
Tennitus, hearing loss
Vertigo, unsteady gait
-assoc with
Schwannoma
Bilateral assoc w/ NF2
Fried egg brain tumor
Oligodendroglioma
Slow growing brain tumor
Frontal lobe
Perinuclear cytoplasmic clearing
Oligodendroglioma
Hypogonadism or acromegaly
Bitemporal hemianopia
Pituitary adenoma
Things that have fried egg appearance
Oligodendroglioma
HPV
Seminoma
Two brain tumors associated with NF-2
Meningioma
Schwannoma
Posterior fossa brain tumor
GFAP
Rosenthal fibers
Pilocytic astrocytoma
Rosenthal fibers: eosinophilic corkscrew fibers
Rathke’s pouch
Compresses optic chiasm
Supratentorial tumor of childhood
Craniopharyngioma
Malignant brain tumor
Cerebellar
Compress 4th ventricle
Homer-wright rosettes
Medulloblastoma
Cells circle around tangle of fibers
Compress 4th ventricle
Peri-vascular pseudo-rosettes
Ependymona
Circular arrangement of cell around vessel
Eosinophilic corkscrew fibers
Rosenthal fibers
Pilocytic astrocytoma
Which cranial nerve relays the following information
1) Hypoxia measure by carotid body
2) Motor information on swallowing
3) BP from aortic arch
4) Salivation from the sublingual glands
5) Salivation from the parotid gland
6) BP from carotid body
1) CN IX
2) IX, X
3) X
4) VII
5) IX
6) IX
Which type of collagen abnormal in alport syndrome
Alport syndrome
Type IV collagen
BM
Nephritis and kidney failure
Hearing loss
Eye problems (cataracts)
Can see, cant pee, cant hear high C
Which type of collagen abnormal in Classic Ehler Danlos syn
Which type in Vascular EDS
Type V and I
(Type 1: bone)
Type III
Type (III: stretchy, blood vessles, uterus)
Collagen synthesis 3*
Preprocollagen alpha chains synthesized in rough ER of fibroblast
( glycine-proline- X) or (glycine-x-hydroproline)
Hydroxylation of lysine and proline
(requires Vit C)
Glycosylation of the hydroxylated lysin –> procollagen
Exocytosis
Cleave terminal regions of procollagen –> Tropocollagen (proteolysis)
Crosslink tropocollagen to make collagen fibrils (covalent bond)
What is seen in early onset Alz dis vs late onset
Early onset
- Presenilin 1
- presenilin 2
- amyloid precursor protein (APP) chr 21
Late onset
- Apo E4
Dementia w/ Lewy body inclusion
Pinkish eosinophilic cytoplasmic inclusions, made up of protein called alpha-synuclein
Inclusions of Tau proteins
Atrophy of frontal and temporal lobe
Dementia and behavioral changes
Dementia and progressive aphagia (inability to understand)
Pick’s dis
Frontotemporal dementia
Rapidly progressive dementia Personality changes Muscle spasm Myoclonus Weeks to months
Creutzfeldt-Jakob disease
Prions
aka spongiform encephalopathy
Dementia plus
1) Visual hallucinations
2) Progressive aphasia
3) Ataxia & loss pupillary light reflex
4) Megaloblastic anemia and peripheral neuropathy
5) Resting tremor and bradykinesia
6) Uninhibited social behavior
7) Urinary incontinence and magnetic gait
8) Syncopal episodes
9) Dysarthria and liver dis
10) Myoclonus
1) Lewy body dis
2) FTD (Pick)
3) Tertiary syphilis
4) B12
5) LBD or Parkinsons dis
6) FTD (Pick)
7) Normal pressure hydrocephalus
8) Lewy body dis
9) Wilson dis (copper build up)
10) Creutzfeltd-Jakob dis
Identify pigment inclusion
1) Herpes simplex
2) Rabies
3) Parkinson dis
4) Assoc w/ aging
5) Dark pigment in substantia nigra and locus coeruleus, not seen in parkinson dis
6) Eosinophilic, rod like seen in hippocampus of Alz pts
7) Diagnostic of Alz dis
8) Filamentous inclusion that stain w/ silver, do not survival neuronal death
9) Filamentous inclusion that stain w/ PAS and ubiquitin
- Cowdry Type A
- Negri bodies
- Lewy body
- Lipofuscin granules
- Melanin
- Hirano bodies
- Neurofibrillary plaques and tangles
- Pick bodies
- Lewy body
Dementia work up (5)
RPR- syphilis HIV B12 TSH MRI
Dominant parietal lobe lesion (4)
Non-dominant parietal lobe lesion
Gerstman syndrome
- agraphia
- acalculial
- Finger agnosia (inability to distinguish fingers)
- L to R disorientation
Hemispatial neglet
(Ignore c/l side of body)
Cholinergic excess pneumonic
DUMBBELSS
Diarrhea Urination Miosis Bronchospasm Bradycardia Excitation of skeletal m./ CNS Lacrimination Salivation Sweating
Ptosis
Diplopia
Worsens as day goes on
Myasthenia gravis
Ab to acetycholine receptor
Thymus pathology
Nicotinic receptor and Muscarinic receptor are what type of receptor
Nicotonic: Ligand gated Na/K channels
Muscarinic: G protein coupled
Anxiety is assoc with altered levels of neurotransmitters
Decrease GABA
Decrease Serotonin
Increase NE
Uvela deviates to right, damage to what 2 things
Left vagus n.
Left nucleus ambiguus
What beside alpha feto protein is abnormal in fetus with neural tube defect
Increase acetylcholinesterase (amniotic)
Patient can not adduct left eye on lateral gaze, convergence is normal
What is damaged
Intranuclear opthalmoplegia
Medial longitudinal fasciculus
Pharyngeal pouches from
Endoderm
Sympathetic receptor on vasculature of skeletal m.
on heart
on lungs
vasculature of skeletal m.: Alpha 1 Beta2 (more)
Heart: Beta 1
Lungs: Beta 2
alpha 1
alpha 2
Beta 1
Beta 2
Alpha 1: vascular smooth m. contraction
- increase resistance and BP
- bladder sphincter contraction
Alpha 2: Inhibit NE release
Beta 1: Heart
- Tachycardia
- increase contractility
- release renin
Beta 2: Lungs
- Vasodilation
- bronchodilation
- insulin release
- decrease uterine tone
Pharyngeal pouches structures
1st pouch: mastoid air cells, middle ear cavity, eustacian tubes
2nd pouch: lining of palatine tonsils
3rd pouch: thymus, inferior parathyroid glands
4th pouch: superior parathyroid glands
Structures in cavernous sinus
Oculomotor Trochlear n. Abducens Opthalmic div V1 Maxillary div V2
Internal carotid A.
Catecholamine synthesis
Phenylalanine (BH4 -> BH2) –> Tyrosine [Phenylalanine hydroxylase]
Tyrosine (BH4–> BH2) –> DOPA
[Tyrosine hydroxylase)
DOPA (Vit B6) –> Dopamine
[DOPA decarboxylase]
Dopamine (Vit C) –> NE
[Dopamine beta-hydroxylase]
NE –> EPI
[PNMT] (+) Cortisol
Cofactors in metabolism of NE
Catechol-o-methyltransferase (COMT)
- methylates NE
Monoamine oxidase (MAO) - oxidized NE
Damage to which artery would produce each
1) Bilateral loss of lateral visual fields
2) Broca or wernicke aphasia
3) Unilateral lower extremity sensory and/or motor loss
4) Unilateral facial and upper extremity sensory and motor loss
1) Anterior communicating A.
2) Middle cerebral A.
3) Anterior cerebral A.
4) Middle cerebral A.
Diuretic used for idiopathic intracranial HTN
Acetazolamide
When does implantation of blastocyst take place
6 days after fertilization
Therapeutic index (TI)
LD50/ED50
Lethal dose/ effictive dose
Higher the TI safer the drug
Low therapeutic index drugs
Some Drugs With Low Therapeutic index
Seizure drugs Digoxin Warfarin Lithium Theophylline
Which regions of the brain compose the limbic system
Amygdala Septal nucleus Mamillary bodies Fornix Hippocampus
What structure grows to close the opening/ canal between the atrial chamber and ventricular chamber into two smaller openings
Superior endocardial cushion
Inferior endocardial cushion
Aortic arches
Most likely to be test on 3rd and 4th
1st
- Part of maxillary A.
2nd
- stapedial A.
- hyoid A.
3rd
- common carotid a.
- proximal part of internal carotid A.
4th
- Left: arch of adult aorta
- Right: Proxiaml part of right subclavian a.
6th
- proximal part of pulmonary A.
- Ductus arteriosus
R to L shunts
- Persistant Truncus arteriosus
- Transposition of the great vessels (2 vessels)
- Tricuspid atresia
- Tetralogy of Fallot
- Total anamalous pulmonary venous return
Ebstein anomaly
Tricupsid leaflets are displaced into right ventricle
Hypoplastic right ventricle
Lithium use
Widely split S2
Tetralogy of Fallot
IHOP
Interventriculat septal defect (USD)
Hypertrophy of RV
Overriding aorta
Pulmonic stenosis
Boot shaped heart in infant
Tetralogy of fallot
Maternal alcohol use can lead to heart defects
Tetralogy of fallot
VSD
ASD
Pregestational diabetes possible heart defect
Transposition of great vessels
Congenital Rubella possible heart defect
PDA
Pulmonary artery stenosis
DiGeorge syndrome possibe heart defect
Tetralogy of fallot
Truncus arteriosus
Turner syndrome possible heart defect
Coarctation of the aorta
Bicuspid aortic valve
Trisomy 21 possible heart defect
ASD or VSD
Most common congenital cardiac anomaly
VSD
Most common congenital cause of early cyanosis
Tetralogy of Fallot
Rib notching heart defect
Coarctation of aorta
Enzymes involved in catabolism of NE
Catechol-o-methyltransferase (COMT) Monoamine oxidase (MAO)
Cardiac output is equal to
Stroke vol (SV) x HR
Stroke vol is equal to
End-diastolic vol minus end-systolic vol
Fick Principle
CO= Rate of O2 consumption/ arterial O2 content- venous O2 content
Mean arterial pressure (P) =
MAP = Cardiac output (Q) x Peripheral resistance (R)
P= QxR
MAP= 2/3 diastolic pressure + 1/3 systolic pressure
Pulse pressure =
systolic pressure - diastolic pressure
The higher the stroke volume the higher the pulse pressure
Digoxin does what
Increase contractility
Ejection fraction (EF) =
SV/ EDV
CHF does what to capillary hydrostatic pressure (Pc)
Increases it
Liver disease does what to starling forces
Decreases plasma colloid osmotic pressure
What increased interstitial colloid osmotic pressure
Lymphatic obstruction
Affect on starling forces
- HF
- Liver failure
- Oliguric renal failure
- Infections
- Nephrotic syndrome
- Lymphatic blockage
- Burns
- Diuretic administration
- IV infusion of albumin
- Venous insufficiency
- HF= Increase Pc
- Liver failure= Decrease TTc
- Oliguric renal failure= Increase Pc
- Infections= Increase Kf
- Nephrotic syndrome= Decrease TTc
- Lymphatic blockage= Increase TTi
- Burns= Increase Kf
- Diuretic administration= Decrease Pc
- IV infusion of albumin= Increase TTc
- Venous insufficiency= Increase Pc
Drug causes eye dilation
Anticholinergic
Atropine
Wide splitting of S2
Wider on inspiration
Pulmonic stenosis
RBBB
Fixed splitting of S2
Split on both inspiration and expiration equally
atrial septal defect
Paradoxical splitting of S2
Split on expiration
Aortic stenosis
LBBB
Which heart sound is associated with dilated congestive heart failure
S3
Mitral regurg
L To R shunt
Which heart sound is associated with chronic HTN
S4
Hypertrophic cardiomyopathy
Aortic stenosis
LV hypertrophy
Post MI
Inspiration makes what murmur louder
Tricuspid
What murmur is louder with expiration
Mitral
Hang Grip makes what murmur louder
Most quieter except
Hypertrophic cardiomyopathy
Bounding pulses, head bobbing, diastolic murmur
Aortic regurg
Underlying mechanism of organophosphate poisoning
Inhibit acetylcholinesterase
MOA of N-acetylcysteine for acetaminophen overdose
Regenerates glutathione
Equation for 1/2 life
T1/2= (0.7 x VD)/ CL
What two antibodies most useful in diagnosing rheumatoid arthritis
Rheumatoid factor
Anti-citrullinated protein Ab
How do NSAIDS cause renal disease
Block prostaglandin Syn
Constrict renal vessels
Epidermis pneumonic
Come Lets Get Sun Burnt
Corneum Lucideum Granulosum Spinosum (only palms and soles) Basale
Components of Zona Occludens
TIght junction
Claudins
Occludin
Components of Zona adherens
Bridge to skeleton
E-cadherin
actin
Components of Macula adherens
Desmosomes, resist shearing forces
Simple/ stratified squamous epithelium
Desmoglein
Components of Gap junctions
Cardiac cells
Connexon
Components of Hemidesmosomes
Connect to BM
Integrins
Auer rods
AML
15;17
15;17
AML
8;14
Burkitt lymphoma
Starry sky
Basophilic cytopasms containing prominenet lipid vacuoles
9;22
CML
Blood smear shows leukocytosis with many immature myeloid cells (horseshoe nucleus)
12;21
B cell- ALL
Anemia
Thrombocytopenia
Lymphoblasts
14;18
Follicular lymphoma
Firm flesh color papules on face with umbilicated center is
Molluscum contagiosum from Pox virus
See Molluscum bodies: eosinophilic cytoplasmic inclusions
Ballooning multinucleated giant cells
Herpes simplex
Enlarged cells w/ intranuclear inclusions, cell fusion produc giant cells
Basaloid cells with peripheral palisading nuclei
Basal cell carcinoma
Slow growing papules, ulceration or rolled border
Cells with enlarged nuclei and perinuclear halos
Veruca vulgaris due to HPV
Encapsulated round yeast forms
Cryptococcus neoformans
cerebrospinal fluid shows budding encapsulated yeast
What is at risk with an anterior/ posterior knee displaccement
Popliteal artery
What is commonly damaged by blunt trauma of lateral knee, vessel
Common peroneal nerve
Concentrations of fluids within
- Ileum
- Pancreas
- Salivary gland
- Sweat gland
Ileum
- Alkaline
- bicarb > Cl
- increase K
Pancreas
- bicarb and chloride change with flow rate
- high flow: high bicarb low Cl
- low flow: low bicarb high Cl
- fixed Na and K concentration
Salivary gland
- isotonic solution
- Lower [Na] [Cl]
- Higher [K]
Eccrine glands
- hypotonic
- composed of sodium chloride, some potassium
- minimal bicarb
Acute stress disorder become PTSD
> 1 month
Cerebellar degeneration vs cobalamin deficiency
Cerebellar degeneration
- tremors
- gait impairment
Cobalamin deficiency
- Decreased vibration sensation
- Gait impairment
- Positive Babinski
- Hyperactive/ hypo reflexes
Difficulty chewing
Double vision
Ptosis
Associated with
Myasthenia gravis
Associated with thymic hyperplasia
Loss of heterozygosity
Inherits one mutation and must develop the second one for tumor to form
Defective DNA repair
Xeroderma pigmentosum
Parental imprinting
Prader-Willi
Angelmann syndromes
Blue green image
potassium hydroxide (KOH) mount
Fungi
Low CD3
Normal B cells
Di George
Allelic heterogeneity
Multiple genes same phenotype
Hereditary hemochromatosis
AR
Excessive absorption of iron
Hyperpigmentation (bronze diabetes) Arthalgia, arthropathy Hepatomegaly DM Progressive weakening Dry mouth Hypogonadism (small testes)
COL1A1 mutation
Osteogenesis imperfecta
Type I collagen
Short stature
Blue sclerae
Infant suffering from recurrent infections, abnormal gene for cytoplasmic tyrosine kinase
Bruton aggammaglobulinemia
Bruton’s tyrosine kinase (BTK)
X linked
Genetic mutations chromosome 7
Cystic fibrosis
Ehlers Danlos
Osteogenesis imperfecta
Genetic mutations chromosome 16
Polycystic kidney disease
Tuberous sclerosis
Increase in branched chain alpha-keto acid
What can also be deficent
Maple syrup urine disease
Alpha ketoacid dehydrogenase require thaimine pyrophosphate (Vit B1) as coenzyme
Pyridoxine order to go with
Isoniazid
Previous MI
Crampy abdominal pain
Blood in stool
Elderly
Ischemic colitis
Mucosal hemorrhage and patchy areas of necrosis
Not eating for days
Low ketones
Vomiting and lethargy
Medium-chain acyl-CoA dehydrogenase deficiency
Hypoketotic hypoglycemia
Glucose 6 phosphatase deficiency
Von Gierke disease
Glycogen phosphorylase deficiency
McArdle
Warfarin with CYP 450 inducer leads to what Vmax and KM
Warfarin metabolism increased
Increased V max
Chromogranin
Carcinoid tumor
Secretes serotonin
Diabetes medications
- Acarbose
- Canagliflozin
- Glyburide
- Pioglitazone
- Repaglinide
Acarbose
-intestinal brush border alpha glucosidase inhibitor decreases postprandial hyperglycemia by reducing GI absorption of glucose
Canagliflozin
- sodium glucose cotransporter 2 inhibitors, act on kidney to decrease reabsorption of filtered glucose
Glyburide (sulfonylureas) and Meglitinides (repaglinide)
- bind to and close ATP sensitive K channels in pancreatic beta membrane
- depolarize and open L type Ca channel
- Increase Ca influx, insulin release
Pioglitazone (Thiazolidinediones) peroxisome proliferator-activated receptor gamma (PPAR-y)
- decrease insulin resistance
- expression glut 4
- adiponectin
Celiac disease location
Distal duodenum
Proximal jejunum
Chronic diarrhea
Drainage of abscess
Erythema near perineum
Crohns
terminal ileum
Abnormal formation of lamellar bone is seen in
Paget disease of bone
Autosomal dominant cancer mutations disease
Lynch syndrome Familial adenomatous polyposis VHL Li-Fraumeni MEN1/2
Laryngeal nerves
-Internal laryngeal supplies
Internal laryngeal: Supraglottic
External laryngeal: cricothyroid
L. recurrent laryngeal: posterior cricoarytenoid, lateral cricoarythenoid, oblique arytenoid, transverse arytenoid, thyroarytenoid
DNA virus
Papillomaviruses
Poxviruses (replicates in cytosol)
Acute onset anemia
Evidence of hemolysis (icterus, elevated reticulocyte count)
Tx w/ TMP-SMX
G6pD deficiency
Erythrocyte enzyme deficiency
Unmyelinated nerve fibers
Post ganglionic autonomic nervous system axons
Positive sense ssRNA virus
1) Meningitis
2) common cold
Picornavirus
Coronoavirus- cold
negative sense ssRNA virus
Arenavirus- hemorrhagic fever
Prader Willi syndrome
Loss of paternally inherited allele
Tantrums Excessive food seeking Obesity Small hands Short stature Hypogonadism Intellectual disability
Tantrums
Excessive food seeking behavior
Obesity
Small hands
Prader Willi syndrome
Loss of paternally inherited allele
Angelmann syndrome
Loss of maternal allele
Epilepsy/ seizures
Ataxic gait
Innappropraite laughter/ smiling
Cobblestone mucosa
Crohns disease
Aggressive biting fingers, tongue and lips
Hypoxanthine-guanine phosphoribosyltransferase deficiency (HGPRT)
Lesch-Nyhan syndrome
X linked recessive
Stroke blindness
Homonymous hemianopsia
acanthosis nigrcans associated iwth
velvety hyper pigmented plaques on the skin in axillae and neck
insulin resistance
GI malignancy
Cystic fibrosis type of mutation
Frame shift
Hyperflexible joints
Stretchy skin
Ehlers danlos
Collagen defect
Drug A. Absolute risk reduction for drug A versus standard therapy 4%. The incidence of recurrent PE in standard therapy group was 6%. There were 24 pts who developed recurrent PE in drug A group. How many total subjects in drug A group?
ARR= ER control- ER treatment
(Event rate)
0.4= 0.6- x
ER treatment= 0.2
ER treatment= Number of events/ number of subjects
0.2= 24/ number of subjects
=1200
IFN-y fxn
activates macrophages
promotes TH1 differentiation
IL-4
produced by TH2
activates B cells
Stimulates neutrophil migration to sites of inflammation
Leukotriene B4
Acute pancreatitis is due to activation of waht
Trypsin
Elastin composition
Nonpolar aminoacids
Not hydroxylated
Lysyl oxidase copper-dep enzyme oxidatively deaminates lysine residues of tropoelastin, facilitating desmosine cross links
[Collagen synthesis
- Disulfide bridges
- post translational hydroxylation
- triple helix assembly]
Reverse T3 (rT3)
inactive form of T3 generated by entirely from the peripheral conversion of T4
Diphtheria toxin and Exotoxin A (pseudomonas)
Inactivates EF-2 vis ribosylation, thus inhibiting host cell rpotein synthesis
Tc-pertechnetate scan
Meckel diverticulum
Failed obliterationo fthe vitelline duct
Promotor regions
-disrupted
CAAT
TATA
- Prevent initiation of transcription
Palpitations
Tachycardia
Irregularly irregular rhythm
Atrial fibrillation
No P waves
Neutralizes reactive oxygen species
Superoxide dismutase
Kidney biopsy
Green straight lines
Anti-glomerular basement membrane disease
(Goodpasture dis)
Collagen IV
Seen glomerular crescents
Origin of melanoma
Neural crest
Receptor of T cells to identify tumor cells and induce apoptosis
Programmed death ligand 1 (PD-1)
Yellow nodules on palmar creases. Father has MI at 56. Accumulation of lipid laden macrophages
Lack of ApoE3 and ApoE4. What is impaired?
Familial dysbetalipoproteinemia
AR
-defect in ApoE
Impaired chylomicron remnant uptake by liver cells
Accumulation cholestesrol and triglyceride levels
Hyperlipoproteinemias types
Type I (AR)
- Familial chylomicroenemia
- Defect: Lipoprotein lipase
- Defect: ApoC-2 production
- Elevated chylomicrons
- Acute pancreatitits*, Lipemia retinalis, eruptive xanthomas
Type IIA - Familial hypercholesterolemia - Defect: LDL receptor - Defect: ApoB-100 - Elevated LDL* (Impaired LDL particle uptake by hepatocytes) -Premature atherosclerosis* - Tendon xanthomas, xanthelasmas (yellow deposit around eyes)
Type III
- Familial dysbetalipoproteinemia
- Defect ApoE
- Elevated: chylomicron & VLDL remnants
- Premature atherosclerosis*
- Tuboeruptive and palmar xanthomas
Type IV
- Familial hypertriglyceridemia
- Defect Polygenic
- Elevated VLDL
- Associated with coronary disease, pancreatitis and diabets
Defect in Fibrillin-1
Marfan
Microfibrils Blood vessels (aorta) Long thin extremities long fingers Aortic root dilation
Vit D overdose similar to what condition
Sarcoidosis, Tb
Have PTH independent conversion due to expression of 1-alpha-hydroxylse in activated macrophages
Oculomotor (CN III) palsy secondary to a compressive aneurysm located where
Posterior communicating artery
Bronchiolitis
Rhinorrhea and congestion
Followed by cough, low grade fever and increased work of breathing
Repetitive vomiting leads to what acid-base disturbance
Metabolic alkalosis
Conjunctival injection
Red eyes
Glucagon mediator responsible for decrease glycogen stores adn glucose
Gs
Adenylate cyclase
Protein kinase A
Insulin resistance leads to increase in waht
Free fatty acid level
How to measure mean arterial pressure
placing an arterial catheter directly in central arterial circulation (common femoral or radial artery) and reflects the average aortic pressure
Measuring pressure in pulmonary artery is also measuring pressure where?
Left atrial pressure
Ammonium and bicarbonate generated from AA
Urea and ornithine produced from
pyruvate produced from AA
oxaloacetate produced from AA
glutamine
arginine
Alanine
aspartate
Lymphatic drainage
Testis
glans penis
Upper 2/3 vagina, uterus, cervix, prostate
Lower 1/2 vagina, vulva, scrotum
Testis: para-aortic
Glans penis: deep inguinal nodes
Upper 2/3 vagina, uterus, cervix, prostate: External iliac nodes, internal iliac nodes
Lower 1/2 vagina, vulva, Scrotom: superficial inguinal nodes
Broad, nonseptate hyphae that branch at wide 90 angles
Mucor
Rhizopus
Absidia
Immediate hypersensitivity txn
Type 1
Cell surface bound antibody bridging by antigen
Three primary ketones
Acetoacetate
Beta-hydroxybutyrate (BHB)
Beta-hydroxybutyric acid
Septic aborption organisms
Staph aureus
Ecoli
Group B strep
Intellectual disability
Hx of seizures
Abnormal pallor of substantia nigra, locus ceruleus and vagal nucleus dorsalia
Phenylalanine hydroxylase deficiency
PKU
Cant convert phenylalaine to tyrosine
Tennis racquet granules
Langerhan cells
9 month old
2 minute general seizures
Fever
3 days later
afebrile
Maculopapular rash on trunk
Human herpesvirus 6
Exertional dyspnea
Easy fatigue
Gait unstable when eyes closed
Impaired vibratory sensation of lower extremiteis
Marked pallor of conjunctivae, nail beds and palms
Vit B 12 deficency
Co factor for methylmalonyl-CoA
Elevated Serum methylmalonic acid and homocysteine
Increased intracranial pressure in infant
Intracranial hemorrhage due to vit K deficiency
Impaired clotting factor carboxylation
Acute compartment syndrome (ACS) affects what in the leg
Foot extensors
Anterior tibial A.
Deep peroneal (Fibular) nerve
Pleiotrophy
One mutation multiple things wrong w/ person
Power of the study?
1- beta
beta= type II error, probability to conducting there is no difference
MHC to CD8 composed of
MHC class I beta microglobulin
MCH to CD4 composed of
MHC class II
alpha and beta chains
Hepatitis B C D vs A E
BCD transmitter parenterally (IV, blood)
AE: fecal oral
Hepatitis pregnant women
Hep E
unenveloped ssRNA
Takes place in cytosol vs mitochondria
Cytosol
- Glycolysis
- FA synthesis
- Pentose phosphate pathway
Mitochondria
- beta oxidation of fatty acids
- citric acid cycle
carboxylation of pyruvate (gluconeogenesis)
Interferon alpha and beta do what
halt protein synthesis
Only works on dsDNA
Sorbitol conversion
Sorbitol – sorbitol dehydrogenease –> fructose
Start codon
AUG
Stop codon
UAA
UAG
UGA
OCD tx
SSRI
Fever myalgia Profound fatigue Swollen LN in neck and behind ears Lymphocytosis Splenomegaly
EBV
transferred vis kissing
Splenomegaly
South asia
Anemia
thrombocytopenia
Malaria
Splenomegaly
South asia
Progressive splenic enlargement
WL over months
Leishmaniasis
scabes tx
topical permethrin
Tx for staph aureus cellulitis
Topical mupirocin
Anemia
Hypercoagulability
Pancytopenia
Paroxysmal nocturnal hemoglobinuria (PNH)
Mutation PIGA
Deficiency: glycosylphosphatidylinositol (GPI) anchor
Deficiency: CD55 CD59
Positive VDRL w/ vulvar lesion
Tertiarty syphilis
Gumma
Tx Manic depression
Valproic acid
Lithium
Carbamazepine
Tx w/ antibiotic
Proteinuria
Hematuria
Acute poststreptococcal glomerulonephritis
HTN
Hematuria
Proteinuria
Nephritic syndrome
Breast dimpling signals involvement of
Suspensory ligaments
HTN
HA
Adrenal mass
Pheochromocytomas
From Neural crest
Narcolepsy caused by
hypocretin-1
hypocretin-2
Elevated 14-3-3 protein CSF
Creutz-jakob
Prions
Temporal lobe encephalitis
Herpes simplex virus
Tx acyclovir
- effects viral DNA polymerase
Meningitis w/ increased protein and normal glucose
Viral
Meningitis w/ low glucose and elevated protein
Bacterial
CHF leads to increase in what force
Capillary hydrostatic pressure (Pc)
Replicative process
1) DS dna –> DS dna template –> ds DNA progeny
2) DS dna -> +RNA template -> partially ds-DNA
3) ssDNA –> ds DNA template –> ss DNA progeny
4) ss +RNA –> ds DNA template –> ss +RNA progeny
5) ss +RNA –> - RNA template –> ss + RNA progeny
6) ss -RNA –> +RNA template –> ss -RNA progeny
1) Adenovius, herpesvirus, poxvirus
2) Hepatitis virus
3) Parvovirus B19
4) Retroviruses (HIV)
5) poliovirus
6) Influenza virua, measles virus, rabies virus
Metastatic bone pneumonic
Permanently Relocated Tumors That Like Bones
Prostate Renal cell cancer Testes Thyroid Lung Breast
Osteopetrosis due to deficient
Carbonic anhydrase II
Polyostotic Fibrous dysplasia
associated with
Bone replaced by collagen and fibroblast
Assoc with McCune Albright syn
- Precocious puberty
- Cafe au lait
- Fibrous dysplasia bone
Precocious puberty
Cafe au lait spots
Fibrous dysplasia bone
McCune albright syndrome
unhappy Triad
Anterior cruciate lig
Medial cruciate lig
Lateral/ medial meniscus
Ankle sprain (3)
Anterior talofibular lig
Calcaneofibular lig
Posterior talofibular lig
What structures damaged in anterior shoulder dislocation
Axillary n.
Posterior circumflex artery
Supraspinatus tendon
Anterior glenohumoral ligaments
What is damaged with posterior dislocation of the hip
Medial and lateral circumflex femoral a.
Femoral v
Sciatic nerve
Head of femur
Polymyositis
Inflammatory muscle disease
Proximal muscle weakness
CD8 t cells induced injury to muscle fibers
Increase Ck and aldolase
Fibromyalgia
Excess tenderness at 11 of 18 sites
Fatigue
Tx. Pregabalin, milnacipran
Duchenne muscular dystrophy
X linked frame shift mutation
Absent Dystrophin gene
INcreased creatine kinase
Becker muscular dystrophy
Inframe shift mutation
Mutated dystrophin gene
Polymyalgia rheumatica
Joint pain
Stiffness in proximal joints
Malaise, fever, WL
No weakness
Tx prednisone
S-100 tumor marker
Melanoma
Melanoma histologically
Nests of melanocytes that fill dermis and obsecure epithelial dermal junction
Albinism due to
Lack of melanin pigment due to lack of tyrosinase enzyme
Vitillago due to
Decreased number of melanocytes
Melasma
Dark discoloration common in pregnant women those take OCPs or hormone replacement
Patchy cheeks or lip
Due to stimulation of melanocytes by estrogen and progesterone
Cellulitis organisms
looks like
Staph. aureus
Strep pyogenes
Painful and tender to touch
rapidly spreads
cellulitis tx
- MRSA
- non-MRSA
Non-MRSA( no abscess)
- oral dicloxacillin, cephalexin
MRSA:
- oral trimethoprim/sulfamethoxazole
- clindamycin
Necrotizing fasciitis organism
Tx
Strep. pyogenes
Anaerobic bacteria
Tx: Debridement
IV carbapenem
clindamycin
Painful flaccid blister
biopsy shows
Ab against
test
unique feature
Pemphigus vulgaris
acantholysis
Ab desmosomes
Positive Nikolsky sign
oral lesions
Tight raised blister
Bullous pemphigoid
Ab to hemidesmosomes
Eosinophils within blister
Negative nikolsky
no oral lesion
Blister IgA in tips of dermal papillae
Dermatitis herpetiformis
assoc w/ celiac
Erythema multiforme
Deposition of immune complexes
Following infection or drug exposure
Target lesions
Pruritic, purple, polygonal papules and plaques
- microscopically see
- assoc with
Lichen planus
Sawtooth pattern at dermal-epidermal junction
Hepatitis C
Acanthosis nigricans
- hyperplasia of
- assoc w/
velvety hyperpigmentation of skin
Stratum spinosum
Hyperinsulinemia and visceral malignancies
Erythema nodosum assoc with
Sarcoidosis, histoplasmosis, Tb, leprsy
Pruritic vesicles associated with celiac disease
Dermatitis herpetiformis
Ligaments of ovaries/ uterus w/ vessels
Cardinal ligament
- uterine vessels
Cervix to pelvic sidewall
Infundibulopelvic ligament (suspensory lig of ovary)
- ovarian vessels
- ovary to pelvic side wal
Broad ligament
- uterus, fallopian tubes, and ovaries to pelvic wall
- contain ovarian lig, round lig, and suspensory lig of ovary
Ligaments of ovaries/ uterus with no vessels
Round ligament of uterus
- gubernaculum
- uterus thorugh inguinal canal to labia majorum
Ovarian ligament
- ovary to uterus
- gubernaculum
Nerves damaged w/ prostatectomy –> erectile dysfunction
Release
Leads to
Cavernous n.
release NO (vasodilation)
Increase cGMP
Decrease Ca
Nervous system components of male sexual response
Erection (point)
- parasym
Emission & ejaculation (shoot)
- sympathetic
R ovarian/ testis vein drain to
R gonadal v to IVC
L ovarian/ testis vein drin to
L gonadal v. to L. renal vein –> IVC
Indirect inguinal hernia
Direct inguinal hernia
Indirect inguinal hernia
- Most common
- Congenital due to failure of closure of processus vaginalis
- Protrude through deep inguinal ring, lateral to inferior epigastric vessels and pass through inguinal canal
Direct inguinal hernia
- Weakening of abdominal wall in Hesselbach’s triangle
- Increase pressure heavy lifting
- Directly through abdominal wall medial to inferior epigastric vessel, exit out superficial inguinal ring
Hesselbach’s triangle
Inguinal lig
Inferior epigastric vessel
Lateral border of rectus abdominis
Mitral regurg vs Aortic regurg
Mitral regurg
- Left lateral decubitis best heard
- Enhanced w/ squatting
- Expiration
- Holosystolic
Aortic regurg
- Widening of pulse pressure
- Diastolic
- Decrescendo
Epispadias
associated with
opening of penis on dorsal surface (top)
Exstrophy of bladder
- exposure of bladder interior to the outside world
Male reproductive development process
Mesonephric duct
SRY gene on Y chromosome
Produce testis-determining factor
-Induces gonad differentaition
- Develop of two cells types
Sertoli
- Produce Mullerian inhibitor factor
- Paramesonephric duct degenerates
Leydig cells
- Produce testosterone
- Mesonephric duct –> internal male (but not prostate)
What induces urogenital sinus and genital tubercle to become male external genitalia
DHT
Paramesonephric duct forms
Fallopian tube, uterus and upper portion of vagina
What forms the lower portion of the vagina
Urogenital sinus –> sinovaginal bulbs –> lower vagina
Genital homologs
1) Glans penis
2) Corpus spongiosum and corpus cavernosum
3) Bulbourethral (Cowper) glas
4) Prostate gland
5) Ventral shaft of penis
6) Scrotum
1) Glans penis= glans clitoris
2) Corpus spongiosum and corpus cavernosum= vestibular bulbs
3) Bulbourethral (Cowper) glands= Greater vestibular (Bartholin) glands
4) Prostate gland= Urethral and paraurethral (skene) glands
5) Ventral shaft of penis= Labia minora
6) Scrotum= Labia majora
Genital homologs
1) Glans clitoris
2) Vestibular bulbs
3) Greater vestibular (Bartholin) glands
4) Urethral and paraurethral (skene) glands
5) Labia minora
6) Labia majora
1) Glans penis= glans clitoris
2) Corpus spongiosum and corpus cavernosum= vestibular bulbs
3) Bulbourethral (Cowper) glands= Greater vestibular (Bartholin) glands
4) Prostate gland= Urethral and paraurethral (skene) glands
5) Ventral shaft of penis= Labia minora
6) Scrotum= Labia majora
Gubernaculum and Processus vaginalis in males and females
Males
- Gubernaculum: anchors testes to scrotum
- Processus vaginalis: forms tunica vaginalis
Females
- Gubernaculum: becomes ovarian ligament and round ligament of uterus
(anchors uterus to labia majora)
- Processus vaginalia: obliterated
Sertoli cells stimulated by
secrete (3)
Anti-mullerian hormone
Inhibin (FSH feedback)
Androgen binding protein
- maintain levels testosterone
- helps mature spermatocytes
Leydig cells
- located
- stimulated by
- secretes
Interstitium
LH
Secretes testosterone
Amenorrhea
Loss of smell
Kallman syndrome
Defect of X linked KAL chain
Decrease GnRH –> Low LH and FSH
Redness swelling and tenderness of scrotom relieved by support of the testes
- Organisms
- Tx
Epididymitis
GC/Chlamydia
Anal: E coli
GC/Chlamydia: Ceftrixone (IM) then doxycycline
Ecoli: Fluoroquinolone
Lesions on penis
Gray, solitary, crusty plaque on the penile shaft or scrotum
Red, velvety plaque involving the glans of the penis
Multiple papular lesions, not invasive
Bowen disease
- progress to invasive SCC
Erythroplasia of Queyrat
- the tip of the penis
Bowenoid papulosis
-affects younger individuals
95% of penile cancers
SCC
assoc w/ HPV
Peyronie disease
Angulation of penis
Leading to painful erections
Inflammation of tunica albuginea
Priapism
Lead to
assoc w/
Persistent penile erection
Ischemia and clotting of blood retained in penis
Assoc w/ sickle cell disease and spinal cord injuries
Balanitis
- organism
- more common
Inflammation of glans penis
Candida
Uncircumcised
Diabetes
Prostatitis
- Organism
- Tx
<35: Gonorrhea, Chlamydia
> 35: E coli, klebsiella, serratia, enterobacter, proteus
Tx: Fluoroquinolone (levofloxacin), TMP-SMX
Estradiol
Estrone
Estriol
Estradiol
- Most potent estrogen
- Produced ovaries
- need both granulosa and theca cells to produce
Estrone
- aromatase conversion
- adipose tissue
Estriol
- produced by placenta
- weakest
hCG
- fxn
- alpha and beta subunit
Prevents degradation of corpus luteum
Shares alpha subunit with LH, FSH, and TSH
Beta subunit specific for hCG
- detectable in blood 1 wk
- detectable in urine 2 wk
Prolactin vs oxytocin
Prolactin
- milk production
Oxytocin
- milk ejection (letdown)
Menopause
- definition
- labs
12 months of amenorrhea
Decrease estradiol
Decrease Inhibin
Increase GnRH, LH, FSH
Estrone is predominant, aromatase still working
Byproducts of MAO and COMT enzymatic activity of dopamine, NE, Epinephrine
Dopamine –> homovanillic acid (HVA)
NE –> Vanillylmandelic acid (VMA)
Epi –> Metanephrine
Smooth white plaques on vulva
Parchment paper
Fusion of labia majora and minora
- due to
- tx
- risk of
Lichen sclerosus
Thinning of epidermis
Corticosteroids
SCC of vulva
Koilocytosis
Enlarged nuclei and perinuclear halo
Fried egg
Seminoma
Dysgerminioma
HPV
Vaginal tumors (3)
SCC
Clear cell adenocarcinoma - DES exposure - T shaped uterus - Vaginal adenosis (patches of columnar epithelium on ectocervix and vagina)
Sarcoma botryoides
(Embryonal rhabdomyosarcoma)
- infants, <5 y.o
- bunch of grapes out of vagina
HPV 16 and 18 MOA
E6 binds p53 –> degradation
E7 binds Rb and inactivates
Post coidal bleeding
Pelvic or low back pain
Cervical cancer
Lesion on surface of cervix
Bunch of grapes growing out of vagina
Sarcoma botryoides
Embryonal rhabdomyosarcoma
T shaped uterus
Patches of columnar epithelium on ectocervix and vagina
(Vaginal adenosis)
Clear cell adenocarcinoma due to DES exposure
Cervical cancer presentation
abnormal vaginal bleeding
- post coidal
Vaginal discharge
Pelvic or low back pain
Bowel or bladder symptoms
Ureteral obstruction
- Pyelonephritis
- uremia
Endometrium layers
Which are shed
Stratum compactum
Stratum spongiosum
Stratum basalis
Basalis only one not shed
Stratum functionalis
- Stratum compactum
- Stratum basalis
Endometritis
- what cells do you see in endometirum
- tx
Plasma cells
Broad spectrum Ab
Post partum
- Gentamicin + clindamycin
Adenomyosis
Endometrial tissue extends into myometrium
enlarged globular uterus
tender to palpation
Whorled pattern
Leiomyomas
Nontender enlarged uterus
Infertility
Leiomyomas
Rapidly enlarging uterus
-from
Leiomyosarcoma
Rare malignant
Denovo from myometrium
Dermoid cyst aka
Benign cystic teratoma
String of pearls
PCOS
PCOS symptoms
- also see (3)
Need 2 of 3
Anovulation/ Oligoovulation
- menstrual irregular
- infertility
Hyperandrogenism
- acne
- hirsuitism (hair on face)
Polycystic ovarian on US
ALso see
- Obesity
- insulin resistance
- increased risk endometrial hyperplasia
Midcycle pelvic pain associated with ovulation
Mittelschmerz
Ascites in otherwise healthy female think
ovarian carcinoma
Ovarian tumor
Psamomma bodies
Serous tumor
Abundant mucinous ascites
appendical cancer
Brenner tumor
Benign ovarian tumor
Urinary tract like epithelium
Struma ovarii
Teratoma contains functional thyroid tissue –> hyperthyroidism
Rosettes of tumor cells surrounding eosinophilic spaces
Call- Exner body
Granulosa cell tumors
yellow
produce estrogen
Meigs syndrome
Ovarian tumor
Ascites
Pleural effusion
SIgnet ring cells
FIlled w/ mucin
Pushes nucleus to periphery
Metastatic gastric adenocarcinoma to bilateral ovaries
Krukenberg tumor
Swollen hydropic villi
Snow strom appearance
Hydatidiform mole
Hydatidiform mole hallmarks
Swollen hydropic villi
Look like grape clusters
US: Snowstorm appearance
Bloody brown vaginal discharge
- arises from
- metastasizes to
Choriocarcinoma
Complete mole, miscarriage, normal pregnancy, ectopic pregnancy
Lung
Triple or quadruple screen in pregnancy
AFP
Estriol
hCG
Inhibin
Trisomy 18 lab values
Decrease AFP
Decrease estriol
Decrease hCG
Trisomy 21 lab values
Decrease AFP
Decrease estriol
Increase hCG
Increase inhibin
Partial mole vs complete mole
Partial mole
- 69 XXX, XXY, XYY
- Fetal parts
- Normal size uterus
- increase hCG
- No risk choriocarcinoma
Complete mole
- 46, XX or YY
- No fetal parts
- Large uterus
- BIG increase hCG
- Risk of choriocarcinoma
Type of ovarian cyst associated with molar pregnancies
Increase hCG
Theca-lutein cyst
Cause of placental abruption
Hx prior placental abruption HTN Trauma Smoking Cocaine use**
HTN
Proteinuria
or end organ dysfunction
Preeclampsia
Thrombocytopenia Renal insufficiency Increased LFT Pulmonary edema Cerebral or visual symptoms - HA, visual disturbances, seizure
Hemolysis
Elevated liver enzymes
Low platelets
HELLP syndrome
Patients who have migraines with aura are at an increased risk for what other neurologic condition?
Stroke
Trisomy 21 what happens w/ chromosomes
- gene effect seen
Maternal nondisjunction of homologous chromosomes during anaphase of meiosis I
Mosaicism
Rocker bottom feet
Micrognathia
Intellectual disability
Trisomy 18
Rocker bottom feet Intellectual disability Microcephaly Cleft lip and palate Holoprosencephaly Polydactyly
labs?
US?
Trisomy 13 Patau
Decrease hCG, PAPP-A
US: increase nuchal translucency
Kleinfelter labs
Testicular atrophy
Decrease testosterone
Decrease inhibin
Increase FSH
Commonly seen w/ Double Y males
Tall
Severe achne
Antisocial behavior
High-pitched crying and newing
also seen (4)
Mutation
Cri-du-chat syndrome
Microcephaly
Severe intellectual disability
Epicanthal folds
Cardiac abnormalities
5p deletion
William syndrome
- characteristics (5)
- mutation
Elfin facies Intellectual disability Hypercalcemia (hypersensitivity to Vit D) Good verbal skills Friendly w/ strangers
Microdeletion of long arm of chr 7
What should be suspected as a cause of HA in a patient using topical retinoic acid for tx of acne
Idiopathic intracranial hypertension (IIH)
What is associated iwth berry aneurysms
mutation?
Autosomal dominant polycystic kidney dis
APKD1 mutation on chr 16
AD disease6
1) Achondroplasia
2) Autosomal dominant polycystic kidney dis
3) Familial adenomatous polypopsis
4) Gardner syndrome
5) Familial hypercholesterolemia
6) Hereditary hemorrhagic telangiectasis
7) Hereditary spheocytosis
8) Huntington dis
9) Li-Fraumeni syndrome
10) Marfan syndrome
11) MEN
12) NF1
13) NF2
14) Tuberous sclerosis
15) VHL
Trinucleotide repeat disorders
Huntington
Myotonic dystrophy
Fragile X syndrome
Friedreich ataxia
Bilateral acoustic neuroma
Hearing loss
Tinnitus
mutation
NF2
Chr 22 AD
Cafe au lait spots
Neural tumor
Lisch nodules (pigment hamartoma in eye)
Scoliosis
mutation
NF I
AD mutation chr 17
Huntington mutation
Chr 4
CAG repeats
Hereditary spherocytosis defect in
Spectrin or ankyrin
MEN syndrome
MEN1: MEN 1 gene
- PPP
- Parathyroid adenomas
- Pituitary adenomas
- Pancreatic tumor
MEN2A: RET gene
- PPM
- Parathyroid adenomas
- Pheochromocytoma
- Medually thyroid cancer
MEN2B: RET gene
- PMM
- Pheochromocytoma
- Medullary thyroid cancer
- Mucosal neuromas
Facial lesions Hypopigmented ash leaf spots Cortical and retinal hamartomas seizures intellectual diability
Tuberous sclerosis
Mutation of hamartin or tuberin gene
Hemangioblastomas of retina, cerebellum, medulla
Phenochromocytomas
von Hippel lindau disease
Deletion of VHL
Expression of HIF
Fragile X syndrome
X linked trinucleotide repeat
Mutation for FMR1 gene which codes for FMRP cytoplasmic protein
Involved in mRNA translation of axons and dendrites
CGG repeat
Macro-orchidism Long face Large jaw Everted ears Mitral valve prolapse Intellectual disability
Macro-orchidism Long face Large jaw Everted ears Mitral valve prolapse Intellectual disability
Fragile X syndrome
AR trinucleotide repeat disorder Staggering gait Falling Nystagmus Pes cavus Kyphoscoliosis
Friedreicha ataxia
GAA
Mutation for gene that codes for frataxin (mitochondrial protein that is involved in iron detoxifying and storage)
AD disease fits
1) Associated with mitral valve prolapse, liver disease, berry aneurysms
2) Neural tumors and pigmented iris hamartomas
3) Very strong association with colon cancer
4) MI before age 20
5) Hemangioblastomas of retina/ cerebellum/ medulla
6) Increased MCHC, hemolytic anemia
7) Bilateral acoustic neuromas
8) Facial lesions, seizure disorder, cancer risk
9) Caudate atrophy, dementia
10) Cystic medial necrosis of aorta
11) Defect of FGF receptor 3
12) Assoc w/ floppy mitral valve, dissecting aortic aneurysm
1) ADPKD
2) NF1
3) Familal adenomatous polyposis
4) Familial hypercholestrolemia
5) VHL
6) Hereditary spherocytosis
7) NF2
8) Tuberous sclerosis
9) Huntington’s dis
10) Marfan syn
11) Achondroplasia
12) Marfan syndrome
X linked recessive pneumonic
Oblivious Females will Give Her Boys Her (x)Linked Disorders
Ocualr albinism Fabry dis Wiskott aldrich G6PD defiency Hunter syndrome Bruton agammaglobulinemia Hemophilia A/B Lesch-Nyhan syn Duchenne muscular dystrophy
Lysosomal storage disease
Fabry dis (X linked recessive) Gaucher dis Krabbe Metachromatic leukodystrophy Niemann Pick Tay-sach
Hurler syndrome Hunter syndrome (X linked recessive)
Painless papules on lower abdomen
peripheral neuropathy
glomerulopathy (renal failure)
Fabry disease
Deficient: alpha- galactosidase
Accumulation: ceramide trihexoside; globotriaosylceramide
Hepatosplenomegaly Cherry red spot Painful bony lesions Anemia Fatigue thrombocytopenia
-Microscopically
Gaucher disease
Deficient: glucocerebrosidase
Accumulation: Glucocerebroside
Prominent blue cytoplasmic fibrils (crumpled tissue paper)
Hepatosplenomegaly Cherry red spot Thrombocytopenia Ataxia Dysarthria Dysphagia Gradual worsening of intellectual fxn
- Mircoscopically
Niemann-Pick disease
Deficient: Sphingomyelinase
Accumulation: sphingomyein
Foam cells
Irritability
Regression of motor skills
Macrocepahly
Cherry red spot
Tay-Sachs
Deficient: hexosaminidase A
Accumulation: GM2 ganglioside
Peripheral neuropathy Seizures Optic atrophy Developmental delay Weakness
Krabbe disease
Deficient: galactocerebrosidase
Accumulation: galactocerebroside
Muscle wasting
Weakness
Progressive vision loss
Dementia
Metachromatic leukodystrophy
Deficient: arylsulfatase
Accumulation: cerebroside sufate
Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Corneal clouding
Hurler syndrome
Deficient: alpha-L-iduronidase
Accumulation: heparan sulfate and dermatan sulfate
2 y.o Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Aggressive behavior
Hunter syndrome
Deficient: iduronate sulfatase
Accumulation: heparan sulfate and dermatan sulfate
Hepatomegaly
Hypoglycemia
Seizure
Lactic acidosis
Von Gierke
Glycogen storage disease
Cardiomegaly
Severe hypotonia
Pompe disease
Lysosomal alpha-1,4, glucosidase deficiency
What type lysosomal storage diseases have myelin sheath pathology leading to peripheral neuropathy
Krabbe disease
Metachromatic leukocystrophy
Signet ring cells
ER and PR positive
LCIS
Large bulky breast tumor
Leaf like projections on histology
Phyllodes tumor
Bloody nipple discharge
intraductal papilloma
What is a feature of gram positive bacteria cell wall
Lipoteichoic acids
Induce cytokine production
IL-1, TNF-alpha
What is the unique featuers of gram negative bacteria cellw all
Outer membrane
- endotoxin (LPS)
- induce IL-1, TNF alpha
Periplasmic space (between membranes) - beta lactamase
Quellung reaction
Anti-capsular serum added to bacteria
Capsule appears swollen under microscope
Bacteria w/ capsule pneumonic
Even Some Pretty Nasty Killers have Shiny Bodies
E coli Strep pneumonia Pseudomonas Neisseria meningitidis Klebsiella Haemophilius influenza type B Salmonella Group B strep
Cryptococcus neoformans
- encapsulated yeast
Mycoplasma vs mycobacteria
Mycoplasma
- sterols for plasmsa membrane
- No cell wall
Mycobacteria
- Mycolic acid cell wall
- Rich in lipids, resistant to staining
Bacteria that dont stain well
Mycoplasma
Mycobacteria
Treponema
- due to corkscrew and small
- dark field microscopy
Legionella pneumophilia
- stain poorly due to unusual branch chain fatty acid in wall
Giemsa stain
Giemsa
Chinese Painted wHore Bows To Rich
Chylamydia Plasmodium Histoplasma Borrelia Trypanosomes Rickettsiae
PAS stain for
Tropheryma whipplei
Whipple disease
Ziehl neelsen stain
Acid fast organism
India ink
Fungus
Crytococcus neoformans
Silver stain
Fungi
-Pneumocystis jirovecii
Legionella
Neurotoxins
Interfere with neural transmission
Botulinum toxin
Tetanus toxin
Enterotoxins
Affect intestines
Shigella
Vibero cholera
Superantigens
Exotoxins that simulatenously bind MHC II receptor and T cell receptor
Polyclonal expansion of T cells
Large amounts of cytokines
Staph Aureus
Strep Pyogenes
Diphtheria toxin
Inactivates EF-2
Inhibits protein synthesis
Corynebacterium diphtheriae
Inactivates EF-2
Exotoxin A - pseudomonas
Diphtheria toxin
Shiga toxin
Cleaves host rRNA at adenine base in 60S ribosomal subunit
Inhibition of protein synthesis
Shigella
Ecoli toxin
Verocytotoxin (Shiga toxin)
- Bloody diarrhea
- HUS
Heat labile toxin - stimulates adenylyl cyclase - Increase cAMP Heat stabile toxin -stimulate guanylyl cyclase - increase cGMP ETEC
Heat stable toxin
ETEC
Yersinia enterocolitica
Pseudoappendicitis
Yersinia enterocolitica
Heat stable toxin
Increase cGMP
Anthrax toxin
Edema factor (adenylyl yclase)
Lethal factor
Protective antigen
Bacillus anthracis
Vibrio cholerae
Cholera toxin
stimulates adenylyl cyclase
increase cAMP
chloride and water cross lumen
rice water stools
Bordetella pertussis
Pertussis toxin binds and inactivates inhibitory G proteins –> increase cAMP
Clostridium tetani
Tetanospasmin blocks release of inhibitory NT gaba and glycine
Botulinum toxin
Exotoxins A->G inhibit release of ACh at NMJ
CLostridium botulinum
Spoiled canned goods
Honey
Clostridium perfringens toxins
Alpha toxin (phospholipase)
- Gas gangrene
- Myonecrosis
Enterotoxin
- Food poisoning
- Food left out too long once cooked
Endotoxin triggers (3)
- Macrophages
- IL-1 IL-6= fever
- TNF= cell death
- NO= hypotension, development septic shock - Complement
- C3a= release histamine, hypotension, edema
- C5a= neutrophil chemotaxis - Tissue factor
- coagulation cascade –> DIC
Toxic associated with Staph aureus
- hemolysis
- tissue destruction w/ mRSA affects both neutrophils and macrophages
- food poisoning
- release of cytokines, high fever, hypotension, diffuse rash
- Scalded skin syndrome in newborns
Hemolysis
- alpha-toxin (alpha hemolysin)
- sphingomyelinase C (beta)
- leukocidin (gamma)
- delta-toxin
Panton-Valentine leukocidin
Enterotoxin (superantigen)
Toxic shock syndrome toxin 1 (superantigen)
Exfoliative toxin
Toxins secreted by Strep pyogenes
Streptolysin O
- hemolysis (oxygen labile)
Streptolysin S
- hemolysis (oxygen stable)
Streptococcal pyrogenic exotoxins Type A, B, C/ erythrogenic toxins
- red rash (erythro-) and fever (pyro-) of scarlet fever
(superantigen)
Degrades H202 into H20 and O2
Catalase
Increases bidning to host tissues, induce coagulation or blood clotting
Coagulase
S. epidermidis vs s. saprophyticus
S. epidermidis
- Novobiocin sensitive
- heart valves
S. saprophyticus
- Novobiocin resistant
- UTI
Gram positive diplococci
Strep. pneumoniae
Viridans streptococci
Colonizer of the oral cavity
Cause infective endocarditis
No capsule
Partial hemolysis
Chronic granulomatous disease
NADPH oxidase deficiency
H2O2 easily broken down by catalase (+) organisms
Susceptible in infections by staph
Contaminated deli meat
Listeria
meningitis in very young and old
Listeria
Potato salad
Staphyloccus aureus
Rapid vomiting
Fried rice Reheated rice
Bacillus cereus
Pigment producing bacteria (4)
Staph aureus
- Large golden colonies
Actinomyces israelii
- yellow (sulfur) granules
- yellow sand
Pseudomonas aeruginosa
- blue green pigment
Serratia marcescens (MARsecens) - red pigment
What ovarian tumor matches each of hte following
1) Estrogen secreting leading to precocious puberty
2) Produces AFP
3) Psammoma bodies
4) Testosterone secreting leading to virilization
1) Granulosa theca cell tumor
2) Yolk sac tumor
3) serous cystadenocarcinoma
4) Sertoli-leydig cell tumor
Gram (+) cocci
Catalase negative
Dental plaque
S. mutans (most)
S. sanguinis
- preexisting heart flow problems
Common disease caused by Group A strep (pyogenes)
Acute pharyngitis
Cellulitis
Invasive infection
Acute post-streptococcal glomerulonephritis
Rheumatic fever
Toxic shock syndrome
Impetigo caused by
Staph aureus
Strep pyogenes
Otitis media and sinusitis
Sudden onset chills
Lobular consolidation
Rust colored sputum
Streptococcus pneumoniae
Group A Strep immunologic complications
Body immune response to bacteria
Jones Joints Pancarditis (endo/myo/pericarditis) Nodules (SQ) Erthema marginatum Sydenham chorea
Neonatal sepsis
Group B strep
Listeria
Ecoli
Gram positive bacteria associated iwth colon cancer
Streptococcus bovis
Group D strep
Endocarditis
Found in gut
Bacteria cause subscute endocarditis
Coagulase neg Staph Viridans group streptococci Strep bovis Enterococci HACEK organisms
HACEK - not gram (+) Haemophilus aphrophilus Aggregatibacter spp Cardiobacterium hominis Eilcenella corrodens Kingella kingae
Spore forming
Clostridium spp
Bacillus anthracis
Coxiella burnetti
Clostiridum difficile
- toxins
- diagnosis
- tx
Toxin A (enterotoxin)
- binds brush border
- secretion and inflammation
Toxin B (cytotoxin) - disruption actin cytoskeleton
Pseudomembrnaous colitis
Stool toxin assay (PCR or ELISA)
Tx
- Metronidazole
- Oral vancomycin
- Fidxomicin (recurrent)
Mediastinal widening on CXR
Bacillus anthracis Aortic dissection Ruptured esophagus Lymphoma Aortic aneurysm due to syphillus
Large painless ulcer w/ central necrosis (eschar)
Cutaneous anthrax
Wound
Obligate anaerobes (3)
Tx
Clostridium species
Actinomyces (Gram +)
Bacteroides (Gram -)
Tx metronidazole
Clindamycin
Facial infection of jaw/mandible
Sinus tracts draining yellow pus
Actinomyces israelii
Decaying vegetation
Infection in immunocompromised
Nocardia
Whitish patch on posterior oropharynx, makes greyish membrane, will bleed if scrap off
Tx
Corynebacterium diphtheriae
Erythromycin or penicillin
Antitoxin
Vaccinate
Chocolate agar
- requires
Haemophilus influenza
Factor V and X
Epiglottitis
Haemophilus influenza
Buffered charcoal yeast extract agar
- requires
- transmission
- tx
Legionella pneumophila
Iron
Cysteine
Aerosols from water sources
macrolides
Fluoroquinole
Spiral shaped rod
urease positive
causes
tx
Helicobacter pylori
Gastric adenocarcioma
Tx: Triple therapy - PPI - Clarithromycin - Amoxicillin or metronidazole
Quadruple therapy
- PPI
- Bismuth
- Metronidazole
- Tetracycline
Lactose non-fermenters
Urease producing
-Creates what
Proteus spp
Alkaline urine Struvite stones (Staghorn calculi)
Associated w/ reactive arthrits
Shigella Salmonella Campylobacter jejuni Yersinia Chlamydia
Question marked shaped
Rodent urine
Phase 1
Phase 2
Leptospira interrogans
Phase 1
Fever chills
Body ache
HA
Phase 2
Hyponatremia
Renal failure
Liver damage w/ jaundice
Bulls eye Fever HA Body ache Fatigue
Tx
Borrelia burgdorferi
Ixodes tick
Tx Doxycycline (early stage)
Amoxicilin (children <8)
Doxycycline or Ceftriaxone (late)
Bilateral facial nerve palsy
Tx
Borrelia burgdorferi
Ixodes tick
Tx Doxycycline (early stage)
Amoxicilin (children <8)
Doxycycline or Ceftriaxone (late)
Argyll robertson pupil
Pupil constricts with accomodation but doesnt react w/ direct light
Neurosyphilis
Rash involving palms and soles
Maculopapular
Kawasaki disease
Coxsackie A virus
Rocky mountain spotted fever
Syphillis
Meningococcemia
You drive Kawaski CARS with your hands and feet
Sensory ataxia
Lancinating pain: sudden stabs of pain in body
Loss of proprioception and vibratory sense
Tabes dorsalis
Posterior dorsal columns of SC and dorsal root
Neurosyphilis
Zoonotic bacteria
1) Cat scratch
2) Rodents to Tick
3) Cattle fluids
4) Birds and pigs
5) Birds
6) Infected placenta or contaminated fluid of newborn farm animals
7) Lone star tick
8) Rabbit or squirrel
9) Infected animal urine
10) Nine-banded armadillo
11) dog bit
12) Lice
13) Fleas
14) Tick, rash on palms
15) Fleas, prairie dogs
1) Bartonella henselae
2) Borrelia burgdorferi
3) Brucellosis
4) Campylobacter
5) Chlamydophila psittaci
6) Coxiella burneii
7) Ehrlichia chaffeensis
8) Francisella tularensis
9) Leptospira
10) Mycobacterium leprae
11) Pasteurella multocida
12) Rickettsia prowazekii
13) Rickettsia typhi
14) Rickettsia rickettsii (rocky mountain spotted fever)
15) Yersinia pestis
What is the classic presenting symptoms in a patient with Lyme disease
Erythema migrans (bulls eye)
Leprosy Hansen disease two types
Lepromatous disease
- weak immune system
- disfuguring
Tuberculoid disease
- strong immuen response
- fewer skin lesions
Clue cell
- organism
- characteristic (2)
- change
- tx (2)
Vaginale pithelial cell covered in coccobacilli
Gardnerella vaginalia
- gray vaginal discharge
- fishy smell
- elevated pH >4.5
Oral metronidazole
Metronidazole cream
Headache
Fever
Rash on wrist and ankles moves to palms soles and trunk
Ricketta ricksttsii
Rocky mountain spotted fever
HA
Fever, Rash centrally spreads to extremities
Rickettsia prowazekii
-Lice
Rickettsia typhi
- Fleas
Febrile
Non specific
Morulae within monocytes or granulocytes
Vector
Tx
Ehrlichia chaffeensis
-Lone star tick
Anaplasma phagocytophilum
- Ixodes scapularis
Tx: Doxycycline
Acute flu like illness w/ pneumoniae
Works on farm
- chronic assoc w/
Coxiella burnetii
- Q fever
- Spore forming
- chronic assoc w/ endocarditis
Chlamydia Types
1) A-C
2) D-K
3) L1-L3
Tx
A-C
- Acute eye infection
- Can lead to scarring and blindness
D-K
- Urethritis, cervicitis, PID
- Neonatal pneumonia and conjunctivitis
L1-L3
- Lymphogranuloma venereum
- Genital ulcer
- Unilateral lymphadenopathy
- Groove sign
- Proctitis
Tx: Azithromycin
Atypical pneumonia
Legionella pneumophila
Chlamydophila pneumoniae
Mycoplasma pneumoniae
Malaise, HA Low grade fever Nonproductive cough Diffuse interstitial infiltrates Coughing for weeks
CXR: patchy reticulonodular infiltrate
Tx
Diagnosis
Mycoplasma pneumonia
College kids- dorms
Military recruits
Macrolide (azithromycin)
Doxycycline (empiric)
Fluroquinoles (empiric)
Cold agglutinins
- Nonspecific IgM Ab to erythrocytes
Lymphatic drainage
1) Arm lateral breast
2) Posterior calf, dorsolateral foot
3) Thigh
4) Stomach, upper duodenum
5) Lower duodenum, jejunum, ileum, proximal 2/3 of colon
6) Distal 1/3 of colon, upper rectum
7) Lower rectum (above pectinate line)
8) Anal canal (below pectinate line)
9) Test, ovaries, uterus kidneys
10) Scrotum, vulva
11) Right arm and right side of face
12) Rest of body
1) Arm lateral breast
= Axillary LN
2) Posterior calf, dorsolateral foot
= Popliteal LN
3) Thigh
= Superficial inguinal LN
4) Stomach, upper duodenum
= Celiac LN
5) Lower duodenum, jejunum, ileum, proximal 2/3 of colon
= Superior mesenteric
6) Distal 1/3 of colon, upper rectum
= Inferior mesenteric
7) Lower rectum (above pectinate line)
= Internal iliac
8) Anal canal (below pectinate line)
= superficial inguinal
9) Testes, ovaries, uterus kidneys
= para-aortic
10) Scrotum, vulva
= superficial inguinal
11) Right lymphatic duct
12) Thoracic duct –> L subclavian
Peyers patches are located
Lamina propria and submucosa of ileum
Which muscles and nerves are derived from the first brachial arch?
M & T
Muscles of mastication
- Masseter
- Medial pterygoid
- Lateral pterygoid
- Temporalis
Mylohyoid
Tensor tympani
Tensor veli palatini
Anterior 2/3 of tongue
Mandibular and maxillary division of Trigeminal n.
What is the cell type in peyer’s patches
M (microfold) cells
Take up Ag from lumen of gut and transcytose to other side of cell
Dendritic cell surface markers
MHC I
MHC II
B7 protein (CD80 or 86)
CD40
HLA-B27
HLA-DR3, HLA-DR4
Seronegative spondoloarthropathies
“PAIR”
Psoriatic arthritis, ankylosing spondylitis, inflammatory bowel disease, reactive arthritis
Type 1 diabetes mellitus
S-100
CD1a
Tennis rackets
Langerhans cell histiocytosis
Excessive proliferation of langerhan cells but are poor at presenting Ag
Positive selection
- occurs where
Selecting for T cells that can bind to MHC
Loss CD4 or CD8
Cortex of thymus
Negative selection
- occurs where
Selectingout T cells w/ receptor for self antigen
Corticomedullary junction
Induces Th1 differentiation
Th1 produces
Functions of those produced
IL-12 –> Th1
Th1 –> IL-2, INF-gamma
IL-2: proliferation of T cells induce more Th1
IFN-gamma: activate macrophages, suppress Th2
Induces TH2 differentiation
Th2 produces
Functions of those produced
IL-4 –> Th2
Th2 –> IL-4, IL-5, IL-10
IL-4, IL-5= proliferation of B cells, induce production of Th2 cells
Il-10= inhibit production Th1, inhibits macrophages
T cell activation
2 signals
TCR and CD4/CD8 binds to MHC II/I
B7 protein (CD80/86) on APC binds to CD28 of T cell
Transcription factor the helps control the development of Treg cells
FOXP3
Forkhead Box Protein P3
Found on X chromosome
Mutation: suppress immune system
- condition called IPEX
Immune dysregulation Polyendocrinopathy - Type I diabetes - Thyroiditis Enteropathy - Severe diarrhea - Failure to thrive X linked
Male infant
Severe chronic diarrhea
Neonatal diabetes or thyroiditis
Eczema
IPEX
Mutation of FOXP3
B cell activation
1) Th cell activated
2) B cell endocytoses Ag and present to Th cell
3) B cell has CD40 and binds to CD40L on T cell
4) Th2 produce IL-4, IL-5 induce B cell proliferation and class switching
NK cells activity induced by
IL-12
IL-2
IFN-alpha
IFN-beta
IFN-alpha and IFN-beta fxn
Induce NK cells
Induce near by cells to inhibit viral protein synthesis
CD16
- does what
- found on
- function
Binds to Ab (on constant region Ab)
Found on: NK cells Macrophages Monocytes Neutrophils Eosinopohils
Antibody dependent cell mediated cytotoxicity (ADCC)
- Enemy cell get coated with IgG antibody, NK cells and other cells w/ CD16 surface marker are able to recognize Ab coated cells and kill them
VDJ recombination begins with
Initated by
Breaks in dsDNA at Recombination Signal sequences RSSs
Initiated by RAG-1 and RAG-2
Surface markers
B cells
T cells
T cytotoxic
T helper
NK cells
Macrophages
Dendritic
1) B cells
- CD19, 20, 21
- IgG, IgM
- B7
- CD40
- MHC II
2) T cells
- CD3
- TCR
- CD28
3) T cytotoxic
- CD3
- TCR
- CD28
- CD8
4) T helper
- CD3
- TCR
- CD28
- CD4
- CD40 ligand
5) NK cells
- CD16
- CD56
6) Macrophages
- CD14
- MHC II
- B7
- CD40
7) Dendritic
- MHC II
- B7
- CD 40
IgG (5)
IgA (5)
IgE (4)
IgM (4)
IgD (1)
1) IgG
- Delayed immune response
- Fixes complement
- Crosses placenta **
- Opsonizes bacteria **
- Neutralize viruses and bacterial toxins
2) IgA
- Secreted by MALT
- Mucous membranes and GI
- Monomor in circulation
- Dimer in secretion
(Mucus, tears, saliva, breast milk)
3) IgE
- Immunity to parasites
- Activates eosinophils
- Mast cells and basophils
- Type I hypersensitivity
4) IgM
- Surface of B cells (monomer)
- Circulation (pentamer)
- Primary immune response
- Does NOT cross placenta
5) IgD
- surface of B cells
Live Virus vaccinations pneumonic
Attention! Please Vaccinate Young Infants with MMR Regularly
Attenuated virus vaccines
Polio (sabin, oral) Varicella Yellow fever Intranasal influenza MMR Rotavirus
Egg based vaccines
Influenza
Yellow fever
(MMR) tiny amount
Bacteria vaccine
- toxin
- capsular polysaccharides
- killed bacteria
- live attenuated bacteria
Toxin
- Tetanus toxoid
Capsular polysaccharides
- S. pneumoniae
- H. influenzae
Killed bacteria
- Vibrio cholerae
Live attenuated bacteria
- Typhoid vaccine
- BCG vaccine
Amyloidosis types (6)
1) Immunologic (primary)
- Ig light chain
- AL fibril
2) Secondary
- SAA (serum amyloid associated protein)
- AA fibril
3) Type 2 diabetes
- Amylin (secreted by pancreas)
- AIAPP
4) Medullary thyroid CA
- Calcitonin
- A-CAL
5) Alzheimer
- beta-amyloid
- APP (amyloid precursor protein)
6) Dialysis associated
- beta2- microglobulin
- Abeta2M
Opsonization
C3b
IgG
Stimulates mast cells and basophils (complement)
C3a
C5a does what
Neutrophil chemotaxis
Deficiency of C1 esterase inhibitor
Deficiency of C3
Deficiency of MAC
Deficiency of DAF
1) Def C1 esterase inhibitor
- Hereditary angioedema
- Elevated bradykinin
- Never take ACE inhibitor, also increase bradykinin levels
2) Def C3
- Recurrent pyogenic sinus infections and resp tract infections
- encapsulated organisms
- Strep pneu, Haemophilus influ
- Increased sensitivity to type II infections
3) Neisseria bactermia susceptible
4) Def in DAF (CD55)
- Protect self form spontaneous complement activation through alternative pathway
- Paroxysmal noctural hemogobinuria (PNH)
Paroxysmal nocturnal hemoglobinuria (PNH) deficient in what
clinical (3)
Tx (3)
TBC deficient in two surface molecules that protect against MAC
1) Glycosylphosphotidylinositol (GPI) which anchors Decay accelerating factor (CD55) to plasma membrane
2) MAC inhibitory protein (CD59)
Clinical
- break down RBC intravascular
- hemosiderinura (red urine)
- thrombosis (platelets destroyed)
Transfusion
Warfarin
Eculizumab
Which organisms cannot be stained w/ gram stain
Treponema Rickettsia Chlamydia Legionella Mycoplasma Mycobacteria
Macrophages secrete
IL-1, IL-6, TNF-alpha (acute phase)
IL-12
Neutrophils chemotactic agents
IL-8
C5a
Leukotriene B 4
Cytokines functions pneumonic
Hot T bone stEAk
IL-1: fever IL-2: stimulates T cells IL-3 stimualtes bone marrow IL-4: IgE adn IgG IL-5: IgA and eosinophils
Differential diagnosis Eosinophilia pneuonic
CANADA P
Collagen vascular disease (PAN, dermatomyositis)
Atopic disease (allergies, asthma)
Neoplasm
Adrenal insufficiency (addison dis)
Drugs (NSAIDS, penicillins, cephalosporins)
Acute interstitial nephritis
Parasites (stronglyloides, ascaris)
HIV
Hyper igE
coccidioidomycosis
Chvostek sign
Trousseau sign
Chovstek: tap on cheek, causes facial spasm
Troussseau: blood pressure cuff, leads to spasm of arm
Hypocalemia
6 month old boy
Recurrent bacterial infections
Low immunoglobulins
- defect
- inheritence
Bruton agammaglobulinemia
Defective tyrosine kinase
X linked
Recurrent candida infections and respiratory infections
Diarrhea
Failure to thrive
No thymus seen on imaging
- deficiency
- decrease in
Severe combined immunodeficiency (SCID)
Decrease B and T cells
Adenosine deaminase deficiency
Cant follow object
Talangiectasias of face
Recurrent infections
clinical (2)
sensitive (2)
risk (2)
elevated
Ataxia-telangiectasia
IgA deficiency
T cell deficiency
Cerebellar ataxia Telangiectasias after 5 y.o Radiation sensitivity (avoid x ray) Increased risk: lymphoma leukemia -Elevated AFP (8 months)
Ataxia-telangiectasia mneumonic “ATAXIA”
"ATAXIA" Ataxia Telangiectasia, tracking eye difficulties Acute leukemia and lymphoma Xray sensitivity IgA deficiency AFP
Wiskott-Aldrich syndrome mneumonic
WAITER Wiskott Aldrich Immunodeficiency Thrombocytopenia and purpura Eczema Recurrent pyogenic infections
X linked
Low IgM, high IgA
1) Defect tyrosine kinase
2) Elevated AFP
3) Adenosine deaminase deficiency
4) Low IgM, high IgA
5) Lack NADPH oxidase
6) Defect LYST gene
7) STAT3 mutation
8) Abnormal integrins
9) Two rows of teeth
10) Delayed separation umbilical cord
1) Bruton agammaglobulinemai
2) Ataxia-telangiectasia
3) SCID
4) Wiskott-Aldrich sydrnome
5) Chronic granulomatous disease (CGD)
6) Chediak-Higashi sydnrome
7) Hyper IgE syndrome (Job syn)
8) Leukocyte adhesion deficiency
9) Hyper IgE syndrome (Job syn)
10) Leukocyte adhesion deficiency
Chronic granulomatous disease (CGD)
X linked
Lack of NADPH oxidase
Cant destroy catalase +
Staph aureus, aspergillus
TMP-SMX
Itraconazole
Giant cytoplasmic granules in PMN
Partial albinism
Recurrent respiratory tract and skin infections
Neurologic disorders
Chediak- Higashi syndrome
LYST gene defect
(lysosomal transport)
Defective phagocyte lysosomes
High level IgE and eosinophils Eczema Recurrent cold S. aureus abscesses Coarse facial features Two rows teeth
Hyper IgE syndrome
STAT3 signaling protein mutation
Impaired differentiation of TH12
Impaired recruitment of neutrophils
X linked immunodeficiencies
Bruton agammaglobulinemia
Chronic granulomatous disease
Wiskott aldrich syndrome
SCID
Eczema
Recurrent cold abscesses
high serum IgE
Hyper IgE syndrome
Large phagosomal vesicles with neutrophils
Chediak=Higashi disease
Tuberous sclerosis mutations
- what is the gene for
TSC1 or TSC2
TSC1= hamartin protein TSC2= tuberin protein
Seizures
Intellectual disability
Angiofibromas (tiny bumps/ tumors on nose and cheeks)
- also seen
Tuberous sclerosis
Hypomelanotic macules (white spots) Retinal hamartomas (white circumscribed tumor of eye) Cortical tuber (white mass in brain benign)
Flaccid paralysis Hyporeflexia weakness Faciculations Fever, HA, malaise Lymphocytic pleocystois (increase lymphocytes in CSF) Slightly elevated protein Normal glucose
Polio
Infantile flaccid paralysis
Most infants die before 1 year
AR
Werdnig-hoffman
Death of neuron in the anterior horn of Spinal cord
Rapidly progessive weakness Muscle atrophy Fascicultations Spasticity Difficulty speaking and swallowing
- Defect
- Tx
ALS
Superoxide dismutase 1
Riluzole
- lengthens survival
- decrease glutamate release
Tabes dorsalis
- assoc w/
- affects
- test
Tertiary syphilis
Obliterates dorsal columns
Light tough and proproceptive cant get to CNS
Romberg sign
Bilateral loss of pain and temperature sensation in upper extremities (cape like)
Hand muscle weakness and atrophy
Syringomyelia
Ipsl UMN sign Ipsl loss tactile vibrtaion and proprioception C/L pain and temp below lesion LMN at level of lesion At lesion ipsl pain /temp
Brown sequard syndrome
complete hemisection spinal cord
Brown sequard syndrome
Ipsl UMN sign Ipsl loss tactile vibrtaion and proprioception C/L pain and temp below lesion LMN at level of lesion At lesion ipsl pain /temp
Deep nuclei of cerebellum from medial to lateral
Fast Gerbals Exercise Daily
Fastigial nucleus
Globose nucleus
Emboliform nucleus
Dentate nucleus
Involuntary flailing of one arm
Hemiballismus
Subthalamic nucleus
which portions of the hypothalamus are inhibited by leptin ? which are stimulated
Inhibits the lateral nucleus
Stimulates teh ventromedial nucleus
Dopamineric signals from the ______ to _______ induce movement
Substantia nigra to neostriatum
Parkinson
- signs
- seen in brain
- loss of
Hypokinesia Festinating gait Pill rolling tremor Cogwheel rigidity Mask like facies
Depigmentation of substantia nigra
Loss of dopamine
Also has parkinsonian features
Synthesizing meperidine
Creates MPTP – MAO–> MPP
Athetosis
Slow writhing snke like movements in hands and fingers
Akathisia
Compulsion to move
Huntingtons Disease
Huntington chorea
C’s
CAG trinucleotide repeat Chromosome cuatro (4) Cuarenta (age 40) Chorea Cognitive decline Caudate atrophy
Excessive excitation by glutamate –> death of neurons
Increase dopamine
Decrease GABA
Decrease ACh
Fracture to shaft of humerus
Fracture of surgical neck of humerus
Radial n.
- Wrist drop
Axillary n.
Posterior circumflex A.
Poststreptococcal glomerulonephritis deposits
IgG
IgM
C3
Immune complex deposition
Enteropeptidase activity
Trypsin
Gram neg rod
Green metallic sheen on eosin methylene blue agar
Hemolysis on blood agar
Ecoli
Green metallic sheen on eosin methylene blue agar
Ferments lactose
Pyruvate kinase deficiency
Pyruvate kinase needed to convert phosphoenolpyruvate to pyruvate, resulting in generation of ATP
Deficiency means less ATP, less gradient
Disruption of RBC membrane
Splenic red pulp hyperplasia to remove RBCs
Splenomegaly
RAS is usually active when bound to
GTP
MAP kinase pathway
Fever chills, fatigue, dyspnea Temp Ring shaped and Maltese cross Splenectomy Intraerythrocytic inclusions
Babesiosis
Tick borne infection
Babesia microti
Heteroplasmy
condition of having different mitochondrial genomes
Frothy foamy urine caused by
Starling forces?
Proteinuria or bile salts in urine
Low plasma oncotic pressure
Absence of CD18
Leukocyte adhesion deficiency
CD18 needed for formation of integrins
Persistent leukocytosis
Average total body water is
extracellular fluid
Plasma volume
41 liters
14 L
3 L (within extracellular)
Posterior duodenal wall ulcer erodes into
Gastroduodenal artery
Mass in right temporal love vision problems
Affects meyer’s loop
Left homonymous superior quadrantanopia
Left top quadrant of both eyes
Hepatoduodenal ligament contains
Common bile duct
Hepatic artery
Portal vein
Amnio acids modified in golgi
Tyrosine
Serine
Threonine
Aspargine
Failure of what process results in I cell disease
Addition of mannose-6- receptor marker to lysosome enzymes
What develops week 4
Week 8
Week 10
Week 4: 4 chamber heart, 4 limb buds
Week 8: fetal movement
8 and “Gait”
Week 10: sex specific genitalia (“ten”italia”)
Neural crest derivitives
Magic Cops
Melanocytes Aorticopulmonary septum Ganglia (autonomic, dorsal root, enteric) Iris stroma Chromaffin cells Cranial nervs Odontoblasts/ ossicles Parafollicular C cells Sclerae
Emybryonic origin of each
1) Anterior pituitary
2) Posterior pituitary
3) Parotid glands
4) Sublingual glands
5) Sclera
6) Lens
7) Retina
8) Mammary glands
9) Sweat glands
1) Anterior pituitary= surface ectoderm
2) Posterior pituitary= neural tube
3) Parotid glands= surface ectoderm
4) Sublingual glands= endoderm
5) Sclera= neural crest
6) Lens= surface ectoderm
7) Retina= Neural tube
8) Mammary glands= surface ectoderm
9) Sweat glands= surface ectoderm
G1 –> S
cyclin D binds/ activates CDK4 –> phosphorylation of Rb protein
Rb protein released from E2F
E2F left free to transcribe/ synthesize components needed for progression through S (cyclin E, DNA polymerase, thymidine kinase)
Cyclin E binds/ activates CDK2 –> the cell is allowed into S pahse
G2 –> M
Cyclin A - CDK2 complex –> mitotic prophase
Cyclin B- CDK1 complex is activated by cdc25 –> breakdown of nuclear lamins and initiation of mitosis
Trafficking proteins (3)
1) COP-11
- antrograde trafficking
- protein from ER to golgi
2) COP-1
- retrograde from golgi to ER
3) Clathrin
- farside of golgi
- helps golgi to form vesicles to transport enzymes called hydrolases to lysosomes
Post translational modifications of proteins and proteoglycans in golgi apparatus
1) GLycosylation of core proteins to form proteoglycans
2) Sulfation of proteoglycans and selected tyrosine residues
3) Add O-oligosaccharides to serine and threonine residues
4) Adds mannose-6-phosphate to asparagine residues located on lysosomal enzymes
I cell disease
Deficiency of mannose phosphorylation
No mannose-6-phosphate to target lysosomal proteins
Secreted out of cell instead of into lysosomes
Corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement
Corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement
I cell disease
Beta oxidation of very long chain fatty acids and branched chain fatty acids
- synthesis of
Peroxisomes
Synthesis of plasmalogens (phospholipids in myelin)
Retrograde movement on axon
Dynein
Antrograd movement on axon
Kinesin
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagner syndrome
Dynein doesnt work
Immotile cilia
what intermediate filaments are found in each of the following?
Connective tissue Muscle tissue Epithelial tissue Axons Nuclear envelope and DNA Schwann cells
CT= Vimentin
Muscle tissue= desmin
Epithelial tissue= cytokeratin
Axons= neurofilaments
Nuclear envelop and DNA= Nuclear lamins
Schwann cells= Glial fibrillary acid proteins
Kartagener syndrome
Situs inversus
Bronchiectasis
Chronic sinsitis
Which arachidonic acid product causes each of the following effects
1) Increased bronchial tone
2) Increased platelet aggregation
3) Decreased platelet aggregation
4) Increased uterine tone
5) Decreased uterine tone
6) Increased vascular tone
7) Decreased vascular tone
1) LTD4, LTE4, LTC4
2) TXA A2
3) PGL2
4) PGE2, PGF2alpha
5) PGI2
6) TXA A2
7) PGI2, PGE1
Needed for Granuloma formation
IFN-gamma: forms granuloma
TNF-alpha: maintains granuloma
Blue sclerae
Hearing loss
Multiple fractures
-inheritence
Osteogenesis imperfecta (OI) - Autosomal dominant
Cant see
Cant pee
Cant hear high C
Alport syndrome
Type IV collagen
Nephritis and kidney failure
Hearing loss
Eye problems (Cataracts)
Role of Vit C in collagen production
Hydroxylation of lysine and proline
Damaged in Guillain-Barre syndrome
CSF changes
Classic manifestations
Schwann cell
Normal cell count
Increase protein
Symmetric ascending muscle weakness
Bilateral facial paralysis (palsy)
Preceded by infection
No sensory loss
Holoproencephaly
- conditions
- mutation
Trisomy 13 patau
Fetal alcohol
SHH mutation
Chiari Malformation
Herniation of cerebellar tonsils
Enlarged posterior fossa
Cerebellar vermis fails to develop
Dilation of 4th ventricle
Dandy Walker
Brocas
Language production
Understand
Cant talk
Wernicke’s area
Comprehension of language
Can talk in sentences
Doesnt make sense
Lesion to which area of brain is responsible for each of the following
1) Hemispatial neglet syndrome
2) Poor repetition
3) Poor comprehension
4) Poor verbral expression
5) Personality changes and disinhibition
6) Agraphia and acalculia
1) Nondominant angular gyrus, parietal
2) Arcuate fasciculus
3) Wernicke
4) Broca
5) Frontal lobe
6) Dominant angular gyrus, parietal
What regulates the progression of the cell cycle from the G1 phase to S phase
p53
Rb
Which arachidonic acid product has actions that oppose that of prostacyclin
Thromboxane A2
Disease which has abnormal breakdown of elastin
Alpha 1 anti-trypsin deficiency
Associated with berry aneurysms
ADPKD
Ehler Danlos
Fearless
Curious
Puts things in mouth
Hypersexual
Bilateral lesion in amygdala
Kluver-Bucy syndrome
Nystagmus
Ataxia
Encephalopathy
Amnesia
Wernicke-Korsakoff syndrome
Thiamine deficiency (Vit B) - alcoholics
Mamillary body lesion
Located in anterior hypothalamus
- damage to this neuron causes dilute urine
- secretes antidiuretic hormone
Supraoptic nucleus
Stimulation increases appetite
Damage causes anorexia adn WL
Leptin inhibits this nucleus
Lateral nucleus
Regulates teh secretion of TSH
Regulates teh secretion of ACTH
Secretes oxytocin
Paraventricular nucleus
Receives input from retina
Controls circadian rhythms
Master clock
Suprachiasmatic nucleus
Damage leads to savage behavior
Damage leads to obesity
Stimulated by leptin
Ventromedial nucleus
Thermoregulation (cooling)
Damage causes hyperthermia
Anterior nucleus
Involved in memory
Damage causes wernicke korsakoff
Mamillary nucleus
Regulates appetite
Pulsatile secretion of FnRH
Secretes dopamine
Secretes GHRH
Arcuate nucleus
Regulates hunger
Damage leads to obesity and a savage behavior
Dorsomedial nucleus
Does thermoregulation (warming) Damage causes hypothermia
Posterior nucleus
Secretes GnRH
nucleus?
Preoptic area nucleus
Which amino acids are found in nuclear localization signals
PAL
Proline
Arginine
Lysine
Cavernous sinus becomes infected. What neurological deficits
Ophthalmoplegia
- CN III: down and out
- CN VI: unable to abduct
Diplopia
Pain/ numbness in upper face
Oculomotor n. Trochlear n. Abducens n. Opthalmic div of CN V1 Maxillary div of CN V2
Nerve for
1) dorsal foot
2) lower leg
3) Sole of foot
4) lateral lower leg
1) Common fibular nerve
2) Sciatic n.
3) Tibial n.
4) common fibular n.
Merkel corpuscle
- adaption
- sensation
- location
Slow
Static pressure
Superficial
Meissner corpuscle
- adaption
- sensation
- location
Rapid
Light tough
Superficial
Ruffini
- adaption
- sensation
- location
- shape
Slow
Pressure, position sense
Deep
Spindle shaped
Pacinian
- adaption
- sensation
- location
- shape
Rapid
Vibration
Deep
Onion-shaped
Previous infection
In the last week
-Muscle weakness in legs
-Muscles weakness spread to hands and trunk
- can also see
Guillain-Barre syndrome
Bilateral facial paralysis
no sensory loss
Slowly adapting vs fast adapting
Slowly adapting
- sends a continuous electric signal thoughout stimulus
- Merkel, Ruffini
Fast adapting
- sends a electrical signal only at the beginning and end of continuous stimulus
- Meissner, Pacinian
Bilateral facial muscle paralysis or weakness
Guillain-Barre
Lyme disease with Bells palsy
Abrupt onset of pain HA at the eyebrow Colored halos Rainbows of light Red teary eye, hazy cornea, fixed Mid dilated pupil (not reactive to light) Firm to palpation
Acute angle-closure glaucoma
Lens against iris
Patients complains of glare with vision
Eye sight has improved, was near sighted
Cataract
White or bluish ring on periphery of cornea
Elderly
-due to
Arcus senilis
Accumulation of cholesterol
Clouding of cornea
Mucopolysaccharidosis (hurler syndrome)
Deficient: alpha-L-iduronidase
Accumulation: heparan sulfate and dermatan sulfate
Enlarged optic disc > 50% of optic cup
Glaucoma
Auditory pathway (10)
1) Tympanic membrane
2) Middle ear ossicles (malleus –> incus –> stapes
3) Hair cells
4) Spiral (cochlear ganglion)
5) Cochlear nuclei
6) C/L superior olivary nucleus
7) Lateral lemniscus
8) Inferior colliculus
9) Medial geniculate nucleus
10) Primary auditory cortex
Intermittent vertigo
Tinnitus
Hearing loss
Meniere disease
Imbalance of fluid and electrolyte composition of the endolymph
Acute otitis externa organisms
S. aureus
Pseudomonas aeruginosa
Acute otitis media organisms
S. pneumonia
Nontypable Haemophilius influenzae
M. Catrrhalis
Facial angiofibromas
Ash-leaf spots of depigmentation
Hx of seizures
Intellectual disability
What neoplasms is this patient at an increased risk of developing
Tuberous sclerosis
Cardiac rhabdomyoma
Astrocytomas
Angiomyolipoma
Awake (open)
Awake (closed)
Non-REM stages
REM stages
Awake (open): beta waves
Awake (closed): alpha
Stage N1: Theta waves
Stage N2: Sleep spindles and K complexes
- Bruxism (teeth grinding)
Stage N3: Delta waves
- Sleepwalking, night terror, bedwetting (enuresis)
REM: Beta waves
Upper motor neuron lesion classic signs
LMN classic signs
UMN
- Spastic paralysis
- Hyperreflexia
LMN
- Flaccid paralysis
- Hyporeflexia
- Atrophy
- Fasciculations
What can be damaged with parotid gland surgery
Facial n.
Runs through parotid gland
Common infectious organism of tonsils and adenoids
Common infectious organism of salivary gland
S. pyogenes
S. aureus, viridans group streptococci
Tumor of parotid gland
Pleomorphic adenomas
benign
Child
Recurrent staphylococcus abscesses
Neutrophils fail to respond because chemotactic stimuli are deficient
Leukocyte adhesion deficiency
Hyperimmunoglobulin E syndrome
What upper GI problem associated with findings
1) Biopsy of pt with esophagitis reveals large pink intranuclear inclusions and host cells chromatin that is pushed to the nucleus
HSV esophagitis
What upper GI problem associated with findings
Biopsy of a patient with esophagitis reveals enlarged cells, intranuclear and cytoplasmic inclusions, and a clear perinuclear halo
CMV esophagitis
An esophageal biopsy reveals a lack of ganglion cells between the inner and outer muscular layers
Achalasia
Protrusion of the mucosa in the upper esophagus
Plummer-vinson syndrome
Outpouching of the esophagus found just above the LES
Epiphrenic diverticulum
Goblet cells seen in the distal esophagus
Barrett esophagus
A PAS stain on a biopsy obtained from a patient with esophagitis reveals hyphate orgnaisms
Candida esophagitis
Esophageal pouch found in the upper esophagus
Zenker diverticulum
Dark urine
Clay stools
Jaundice
- due to
Extrahepatic biliary atresia
Incomplete recanalization of the bile duct during development of the bile duct
Non-bilious vomiting
Shortly after birth
Constricting ring around duodenum
-due to
Annual pancreas
Failure of ventral pancreatic bud to rotate properly
Mega-esophagus
Cardiomegaly
Chagas disease
Trypanosoma cruzi infection
Dysphagia
Glossitis
And ____
Plummer-vinson
Iron deficiency anemia
Directly inhibits parietal cells from generating acid
Somatostatin
Gastrin secreted by
Secretion stimulated by
G cells of antrum
Phenylalanine
Tryptophan
Calcium
Stomach biopsy reveals neutrophils above the basement membrane, loss of surface epithelium and fibrin-containing purulent exudate
Acute gastritis
What is seen in chronic gastritis
Stomach biopsy reveals lymphoid aggregates in the lamina propria, columnar absorptive cells and atrophy of the glandular structures
Spiral shaped bacteria
H. pylori
A 54 y.o male presents with abdominal pain, diarrhea, bilateral lower extremity edema and 5 lb weight loss over last 3 months. An esophagogastroduodenoscopy is performed and cerebriform rugae are observed throughout the body of the stomach. A biopsy of the region shows an abundance of mucous cells forming glands in the shape of corkscrews, but very few parietal and chief cells. most likely diagnosis is
- increased risk of
Menetrier disease
Gastric adenocarcinoma
Menetrier disease 5 things
- Hypertrophy of mucous producing cells, rugae of stomach hypertrophy look like gyri
- Atrophy of parietal cells
- Decrease gastric acid production
- Enteric protein loss –> hypoalbuminemia –> edema
- Increase risk of gastric adenocarcinoma
Signet ring cell in ovary
Krukenberg tumor gastric cancer metasisi to ovary
Non bilious projectile vomiting
Palpable oliver mass in epigastric
Pyloric stenosis
- pylorus is hypertrophied
- narrowing of gastric outlet
What enzymes do obligate anaerobes lack
Catalse
Superoxide dismutase
WHich mycobacterium species fits each
1) Causes leprosy
2) Causes pulmonary TB-like symptoms in COPD patients
3) Causes cervical lymphadenitis in children
4) Cuases a disseminated disease in AIDS patients
5) Associated iwth hand infection in aquarium handlers
1) Myco. leprae
2) Myco. kansasii
3) Myco. scrofulaceum
4) Myco. avium intracellulure (MAI)
Myco. avium complex (MAC)
5) Myco. Marinum
Stimulates gallbladder contraction
Faciliates pancreatic HCO3 secretion
Increase insulin release
Inhibits secretion of all GI hormones
Relaxes smooth muscle and sphincter through out GI
Produces peristaltic waves
Cholecystokinin (CKK)
- I cells
- Gall bladder contraction, decrease gastric emptying, increase pancreatic secretion
Secretin
- S cells
- Neutralize gastric acid
- Decrease gastric acid production
Gastric inhibitory peptide (GIP)
- K cells
- Decrease gastric acid production
- Increase insulin release
Somatostatin
- D cells in GI tract
- delta cells in pancreas
Vasoactive intestinal peptide (VIP)
- Relaxes smooth m and sphincter
- Increase secretion of electrolytes and water
- Copious watery diarrhea
Motillin
Hepatoduodenal ligament contains
Portal triad
- Hepatic artery
- portal vein
- common bile duct
Retroperitoneal
SAD PUCKER Suprarenal (adrenal) glands Aorta Duodenum (2nd-->4th part) Pancreas (not tail) Ureters Colon (ascending and descending) Kidney Esophagus (lower 2/3) Rectum
Four obligate aerobic bacteria
Nagging Pest Must Breathe
Nocardia
Pseudomonas aeruginosa
Mycobacterium tuberculosis
Bacillus
Carbohydrate breakdown and transport
Carbs
- immediately: salivary amylase in mouth
Carbs –> disaccharides
(pancreatic amylase)
Disaccharides –> monosaccharides
(intestinal brush border)
Sodium dependent transport
- GLucose
- Galactose
Faciliate diffusion (GLUT5) - Fructose
Protein breakdown and transport
Protein –> Amino acids & dipeptides, tripeptides
(pancreatic proteases)
Sodium dependent transport
- Amino acids
Hydrogen gradient
- dipeptides, tripeptides
Lipid breakdown and transport
Lipids –> triacylglycerol
( salivary lipase, stomach)
Triacylglycerol –> Fatty acids, 2-monoacylglycerol
( Pancreatic lipase)
Bile acids emulsify hydrolyzed product
Forms micelles
–> Triglycerides, cholesterol
Gets balled up into chylomicrons, transported to liver
Location of absorption
Iron
Folate
Vit B12
Duodenum
Duodenum and jejunum
Terminal ileum
Bite cell
G6PD deficiency
Due to removal of Heinz bodies by macrophages in the spleen
Deficiency ApoB-48, ApoB-100 Malabsorptive Steatorrhea Failure to thrive Ataxia acanthocyes "spur cell" on microscope Lipid-laden enterocytes
- inheritence
- mutation
- missing
- later manifestations
- tx
Abetalipoproteinemia
AR
Mutation in gene that encodes for microsomal transfer protein (MTP)
Chylomicrons, VLDL and LDL absent
Retinitis pigmentosa
progressive ataxia
acanthocytosis
Restriction of long chain fatty acids
Large doses oral Vit E
Defective ApoB-100 Increased LDL, cholesterol, VLDL Premature atherosclerosis Tendon xanthomas Xanthelasmas
Familial hypercholesterolemia
- AD
- Absent LDL receptors
Defective LDL particle uptake by hepatocytes
Deficiency ApoC-2 Increased chylomicrons Acute pancreatitis Lipemia retinalis Eruptive xanthomas
Familial
chylomicronemia
AR
Creamy white retinal blood vessels
Localized lipid deposits in skin, red bumps
Deficiency ApoE
Premature atherosclerosis
Lipid droplets in palms of hand
Lipid laden macrophages
What is impaired
Familial dysbetalipoprotenemia
Chylomicron remnant uptake by liver cells
Increase chylomicron and VLDL remnants
Celiac disease Ab to
Gliadin
Tissue transglutaminase
Weight loss Lymphadenopathy Hyperpigmentation Cardiac symptoms Arthralgias Neurlogic symptoms PAS+ Foamy macrophages in lamina propria
Whippe disease Tropheryma whipplei (Gram +)
Penicillin
Ampicillin
Tetracycline
Small intestinal mucosa laden with distended macrophages in the lamina propria
Whipple disease
Horrible abdominal pain
Mild tenderness to palpation
Dilated loops of bowel
Bowel wall thickening
Intestinal ischemia
Blood supply proximal to pectinate line
Blood supply distal to pectinate line
Superior rectal artery
from inferior mesenteric artery
Inferior rectal artery (br. of pudendal a.)
Peutz-Jeghers syndrome
AD
Multiple benign hamartomas in GI tract
Hyperpigmented areas on lips, mouth, hands genitalia
Increase risk of malignancy
Colon cancer APC pathway
Loss of APC gene K-RAS mutation Loss of tumor suppressor genes -p53 - DCC (chr 18q)
colon cancer microsatellite pathway
Loss common
HNPCC (lynch)
Dysfunction of DNA mismatch repair enzymes
LOTs of polyps
Familial adenomatous polyposis
AD mutation of the APC gene
Gardner syndrome (4)
Familial adenomatous polyposis
Bone and soft tissue tumors
Lipomas
Retinal hyperplasia
Lynch syndrome
HNPCC
Nonpolyposis colorectal cancer
AD
Proximal colon cancer
Patient with urinary tract infection caused by Proteus vulgaris is at risk for what type of renal stone
Ammoniummagnesium phosphate stones (Staghorn calculi)
Chlamydophila psittaci
Chlamydophila pneumoniae
Chlamydia trachomatis
- A, B, C
- D-K
- L1 L2 L3
Chlamydophila psittaci
- bird exposure
- pneumonia
Chlamydophila pneumoniae
- interstitial pneumoniae
- walking pneumonia
Chlamydia trachomatis
- A, B, C (trachoma eye infxn)
- D-K (PID, urethritis, conjunctivitis)
- L1 L2 L3 (lymphogranuloma venerum, primary ulcer and LAD)
Ventral pancreatic bud –>
Dorsal pancreatic bud –>
Ventral –> uncinate process, part of head of pancreas, proximal portion of main pancreatic duct
Dorsal –> Body and tail, most of head (superior aspect) , small accessory pancreatic duct
What tells the pancreas to start secreting
CCK
Vagus n.
Secretin
Pancreatitis causes
"Pancreatitis" hyperParathyroidism** Alcohol** Neoplasm Choleithiasis** Rx (drugs)** ERCP** Abdominal surgery hyperTriglyceridemia ** Infection Trauma Idiopathic Scorpion sting
Sit wont sit down
Severe pain radiates to back
What will be elevated
Acute pancreatitis
Increased serum lipase
Painless jaundice
-markers
Pancreatic adenocarcinoma
CD19-9
CEA
Trousseua syndrome
Hypercoagulability
Venous thrombosis
Migratory thrombophlebitis
Associated with pancreatic cancer
A 59-year-old man with no prior medical history
presents to the physician with marked hyperglycemia,
diarrhea, and weight loss. A CT
scan of the abdomen reveals a pancreatic mass.
A trial period on an oral hypoglycemic agent
has not helped reduce his glucose levels. His
physical examination is signifi cant for the rash
shown in the image. Which of the following is
the most likely diagnosis?
Glucagonoma
Tx Octreotide
Pancreatic mass
Increased insulin
Hypoglycemia
Elevated C- peptide
Insulinoma
Pancreatic mass Hyperglycemia Steatorrhea Gallstones Decrease hydrocholic acid (achlorhydria)
Somatostatinoma
Young child has recurrent lung infections and granulomatous lesions. This is most likely due to what underlyign defect in neutrophils
Chronic granulomatous disease
Deficiency of NADPH oxidase
Spore forming bacteria
Bacillus anthracis
Bacillus cereus
Clostridum spp
(perfringens, tetani, botulinum, difficle)
Coxiella burnetti
6 month old gets flaccid paralysis after eating honey. Organism? MOA?
Clostridum botulinum
Inhibits release of acetylcholine
Jaundice male neonate Lethargic Icterus of skin and sclerae Muscle tone decreased Liver no enlarged Total bilirubin high Normal direct bilirubin
Phenobarbital does not lower bilirubin levels
Unconjugated hyperbilirubinemia
Crigler-najjar Syn (type I)
hCG stimulates corpus luteum to produce progesterone until placenta takes over at
8 weeks
Adult vs fetal hemoglobin
Adult
- Two alpha
- two beta
Fetal
- two alpha
- two gamma
What allows bilirubin to be taken out of blood
UDP-glucuronyl transferase
A healthy 25 y.o man comes in to routine examination. His lab tests show a serum bilirubin level of 4 mg/dL and a direct bilirubin of 0.3 mg/dL. Liver fxn tests are nromal. Which of hte following explains the serum and indirect bilirubin levels
B. Glucuronosyltransferase deficiency
Gilbert
Phenobarbital in Crigler Najjar
Phenobarbital
Type II have decrease in bilirubin
Type I no change
New born presents with kernicterus, jaundice adn elevation of serum unconjugated bilirubin. Patient dies after 1st birthday. Most likely had a deficiency of?
Uridine diphosphate-glucuronsltransferase
Crigler-Najjar tyep I
Autopsy of patient has black liver
Dubin Johnson
Increase direct bilirubin
Increased direct bilirubin
no black liver
Rotor syndrome
Encapsulated bacteria?
Test for encapsulated bacteria
Even Some Pretty Nasty Killers Have Shiny Bodies
E.coli Strep pneu. Pseudomonas Neisseria meningitis Klebsiella H. influenza Salmonella B Group B strep
Quellung rxn
A 39-year-old white woman who suffers from
polycythemia vera presents to the clinic complaining
of severe and constant right upper
quadrant pain over the past 2 days. Physical examination
reveals an enlarged liver. What other finding would most likely be seen at presentation?
(A) Ascites
(B) Asterixis
(C) Esophageal varices
(D) Hyperpigmented skin
(E) Spider angiomata
A. Ascites
Budd-chiari
A 34-year-old woman who is at 26 weeks of gestation
and who has a history of multiple spontaneous
abortions presents with severe abdominal
pain, jaundice, ascites, and mental status
change. Ultrasonography reveals an obscure
hepatic venous connection to the inferior vena cava and absence of any waveform in the hepatic veins. She has a positive serum antiphospholipid antibody titer. Which of the following
is the most likely diagnosis?
(A) Budd-Chiari syndrome
(B) Congestive heart failure
(C) Polymyalgia rheumatica
(D) Portal vein thrombosis
(E) Veno-occlusive disease
A. Budd-chiari syndrome
Complete obstruction to blood flow by acute clot in hepatic veins or inferior vena cava
Hepatomegaly
Pain
Ascites
Jaundice
A 57-year-old white man presents to his primary
care physician with dyspnea. He says that
he likes to maintain his yard and garden, but
that he has recently had trouble doing the
work, and becomes short of breath even walking
up the one fl ight of stairs in his house. On
further questioning, he says that sometimes he
wakes up short of breath in the middle of the
night. Physical examination demonstrates pitting
ankle edema. Which of the following fi ndings
would also be expected in this patient?
(A) Decreased sympathetic outfl ow
(B) Decreased venous pressure
(C) Increased aldosterone secretion
(D) Increased effective arterial blood volume
(E) Increased glomerular fi ltration rate
C. increased aldosterone secretion
CHF
A 26-year-old man presents to the clinic with
bradykinesia, rigidity, and resting tremor. Serum
aminotransferase levels are mildly elevated.
A liver biopsy is shown in the image.
What is the chance that this patient’s sister will
have the same condition?
B. 25%
Wilsons disease
A 19-year-old woman is bothered by a tremor at rest,
which becomes progressively worse over the next 6 months.
She exhibits paranoid ideation with auditory hallucinations
and is diagnosed with an acute psychosis. On physical examination,
she has scleral icterus. A slit lamp examination shows
corneal Kayser-Fleischer rings. Laboratory findings include
total serum protein, 5.9 g/dL; albumin, 3.1 g/dL; total bilirubin,
4.9 mg/dL; direct bilirubin, 3.1 mg/dL; AST, 128 U/L;
ALT, 157 U/L; and alkaline phosphatase, 56 U/L. Which of
the following additional serologic test findings is most likely
to be reported in this patient?
A Decreased α1-antitrypsin level
B Decreased ceruloplasmin level
C Increased α-fetoprotein level
D Increased ferritin level
E Positive antimitochondrial antibody
F Positive HbsAg
B. Decreased ceruloplasmin level
Wilson disease
Cirrhosis Diabetes Hyperpigmentation CHF Testicular atrophy
“Bronze diabetes”
Hemochromatosis
INcreased risk of HCC
AR disease
- HFE gene –> makes hepcidin
Increased ferritin
Lung and liver disease
Alpha 1 antitrypsin disease
AD
Impaired ability to protect organs for elastase
What three bacteria are obligate intracellular bacteria
Rickettsia
Coxiella
Chlamydia
Hepatitis A
- type
- genus
- family
- transmission
- infection type
- signs
ssRNA virus
non-enveloped
Hepatovirus
Picronavirus
Fecal/oral, poor sanitation
Acute
Fever, vomiting, jaundice, RUQ pain
Hepatitis E
- type
- genus
- family
- transmission
- infection type
- More likely to cause fulminant hepatic failure in
ssRNA
Hepevirdae
Orthohepevirus
Fecal/oral route, contaminated water
Acute
Pregnant women
Hepatitis B
- type
- genus
- family
- transmission
- infection type
- Tx
ds DNA
Orthohepadnavirus
Hepadnaviridae
Perinatally, sexual contact, blood
Chronic
Tenofovir
Hepatitis D
- type
- genus
- family
- transmission
- infection type
- feature
- Tx
ssRNA
deltavirdae
Blood, sexual contact
Infects w/ hepatitis B
Chronic
Pegylated IFN-alpha
Hepatitis C
- type
- genus
- family
- transmission
- infection type
- Tx
ssRNA
hepacivirus
Flavivirdae
Blood, sexual contact
Chronic
Ledipasvir-sofosbuvir
Ombitasvir-paritaprevir-ritonavir + dasabuvir
ANA
anti-smooth muscle Ab
Autoimmune hepatitis
Type 1
Anti-liver-kidney microsomal Ab
Anti-liver cytosol antibody
Autoimmune hepatitis
Type 2
Coarse facial features
Abscesses
Eczema
Hyper IgE syndrome
T cell
Thrombocytopenia
Purpura
Infections
Eczema
Wiskott aldrich
B cell disorder
Delayed separation of umbilicus
Leukocyte adhesion deficiency
Neurologic defects, partial albinism
recurrent infections
Chediak-Higashi syndrome
P450 enzymes in the liver are found in what zone of hepatic lobule
Zone 3
Beads on a string
+ pANCA
- due to
- tx
Primary sclerosing cholangitis (PSC)
COncentric fibrosis of bile ducts
liver transplant
A 43-year-old man with a 20-year history of ulcerative
colitis presents to the physician with complaints of worsening bloody diarrhea, progressive
fatigue, pruritus, visual disturbances, and arthralgias. On physical examination, he is
found to have icteric sclera, fi nger clubbing, and several small ulcerations with necrotic
edges on both legs. Endoscopic retrograde cholangiopancreatography
(ERCP) shows alternating
strictures and dilations of the bile ducts.
Which of the following conditions is consistent with these ERCP fi ndings?
(A) Cholelithiasis
(B) Pancreatic carcinoma
(C) Primary biliary cirrhosis
(D) Primary hemochromatosis
(E) Primary sclerosing cholangitis
(E) Primary sclerosing cholangitis
- A 46-year-old white woman with rheumatoid arthritis
presents with severe pruritus. She denies
any history of alcohol or drug use. On physical
examination, she is found to have icteric sclera,
palpebral xanthomas, and hepatomegaly. She
tests positive for antimitochondrial antibody and
increased alkaline phosphatase activity. Which
of the following is most likely responsible for
this patient’s presentation?
(A) Destruction of intrahepatic bile ducts
(B) Hepatic parenchymal destruction
(C) Obstruction of extrahepatic bile ducts
(D) Portal vein thrombosis
(E) Stenosis of extrahepatic and intrahepatic
bile ducts
(A) Destruction of intrahepatic bile ducts
The triad of jaundice
(icteric sclera), hypercholesterolemia (palpebral
xanthomas), and pruritus with positive antimitochondrial
antibody titers and elevated alkaline
phosphatase activity is classic for
primary biliary cirrhosis. Primary biliary cirrhosis
is a cholestatic disease with chronic, progressive,
and often fatal liver injury characterized
by the destruction of medium-sized
intrahepatic bile ducts with eventual liver failure.
Liver transplantation is the defi nitive treatment.
- A 46-year-old white woman with rheumatoid arthritis
presents with severe pruritus. She denies
any history of alcohol or drug use. On physical
examination, she is found to have icteric sclera,
palpebral xanthomas, and hepatomegaly. She
tests positive for antimitochondrial antibody and
increased alkaline phosphatase activity. Which
of the following is most likely responsible for
this patient’s presentation?
(A) Destruction of intrahepatic bile ducts
(B) Hepatic parenchymal destruction
(C) Obstruction of extrahepatic bile ducts
(D) Portal vein thrombosis
(E) Stenosis of extrahepatic and intrahepatic
bile ducts
(A) Destruction of intrahepatic bile ducts
The triad of jaundice
(icteric sclera), hypercholesterolemia (palpebral
xanthomas), and pruritus with positive antimitochondrial
antibody titers and elevated alkaline
phosphatase activity is classic for
primary biliary cirrhosis. Primary biliary cirrhosis
is a cholestatic disease with chronic, progressive,
and often fatal liver injury characterized
by the destruction of medium-sized
intrahepatic bile ducts with eventual liver failure.
Liver transplantation is the defi nitive treatment.
A 42-year-old woman comes to the physician
with severe itching for the past 4 days. Her
physical examination is signifi cant for hepatomegaly
and three xanthomas on her right lower
extremity. Laboratory studies reveal a normal
total bilirubin level and elevated serum cholesterol
and alkaline phosphatase levels. A liver
biopsy shows granulomatous destruction of medium-
sized intrahepatic bile ducts. Which of
the following autoantibodies is most likely to
be signifi cantly elevated in this patient?
(A) Anticentromere antibodies
(B) Antihistone antibodies
(C) Antimitochondrial antibodies
(D) Antinuclear antibodies
(E) Rheumatoid factor
C. anti mitochondrial ab
primary biliary cholangitis (cirrhosis)
Granulomas
Cirrhosis
Middle age female
Anti-mitochondrial antibody
- due to
- tx
Piarmy biliary cholangitis (PBC)
Autoimmune
T cells attack bile ductules within teh liver parenchyma
Ursodiol (ursodeoxycholic acid)
- bile acid that decreases the synthesis of cholesterol in the liver
Liver transplant
Lysosomal storage disease
- accumulation of CM2 ganglioside
- associated with renal failure
Tay-Sach
Fabry disease
Inhaled coin goes where
Right mainstem bronchus
Physiologic dead space equation
Vd= Vt x (PaCO2- PeCO2)/ PaCO2
Vd= dead space Vt= tidal volume PaCO2= Pco2 arterial PeCO2= Pco2 expired air
Pulmonary vascular resistance equations
P=
R=
P= Q x R
Q= perfusion
R= 8 nl/ #R^4 n= viscosity l= length of vessel r= radius #= pie
Beta 2 stimulation
INcrease radius
Decrease resistance
Moves oxygen hemoglobin dissociation curve right (5)
Co2 Acidosis Increase 2,3 DPG Increase exercise Increase temp
Form of hemoglobin that has low affinity for oxygen
- what favors this form
Taut (T form)
Favors tissues, give up oxygen readily
Favor the T form
- Co2
- H
- Increased temp
- 2,3 DPG
Hemoglobin with high affinity for oxygen
R form (relaxed)
Methemoglobin
- form
- affinity
- causes
- caused by
- tx
Ferric form (3+) of iron
Decreased affinity for oxygen
Increased affinity for cyanide
–> Tissue hypoxia
Nitrates and nitrites Antimalarial drugs (Chloroquine, primaquine) Dapsone Sulfonamide Local anesthetics (lidocaine) Metoclopramide
Tx
- Methylene blue
- Vit C
- Cimetidine (gradually lowers)
Which immunodeficiency matches
1) Neutrophils fail to respond to chemotactic stimuli
2) Adenosine deaminase deficiency
3) Failure of endodermal development
4) Defective tyrosine kinase gene
5) Associated wth high levels of IgE and eosinophils
1) Leukocyte adhesion deficiency
2) Hyper IGE syndrome
3) SCID
4) Bruton agammaglobulienmia
5) Hyper IgE syndrome
What occurs in COPD with oxygen levels
Decrease arterial PO2
Physiologic shunt
Decrease O2 extraction ration
Decreases blood O2 content
Alveolar gas equation
PAo2= PIo2- PaCo2/ R
PAo2= 150 - PaCO2/0.8
CAG
- cause
- inheritence
- signs
CGG
- cause
- inheritence
- signs
CTG
- cause
- inheritence
- signs
GAA
- cause
- ineritence
- signs
Huntington disease
- AD
-
-
Fragile X syndrome
- gene hypermethylation
- X linked dominant
- Protruding chin, giant gonads
Myotonic dystrophy
- AD
- Cataracts, Toupee (early balding) , gonadal atrophy
Friedreich ataxia
- AR
- Ataxic gait
Defects in DNA mismatch repair
Lynch syndrome
increased risk of hereditary non-polyposis colorectal cancer (HNPCC)
Headache fever inattentiveness Chemotherapy Increased opening pressure Increased protein, low glucose Image: Cds
Tx.
Cryptococal meningoencephalitis
Initial:
Amphotericin B
Flucytosine
Long term maintenance therapy:
Fluconazole
Left ventricular myocardial blood supply occurs when
During diastole
Ventricle is relaxed
Intrapleural pressure when airway pressure is zero
-5
–> -7.5 with inspiration
Manic vs hypomanic
Manic
- severe
- 1 week
- May have psychotic features
Hypomanic
- >= 4 consecutive days
Bipolar I
Bipolar II
Cyclothymic disorder
Bipolar 1
- Manic episode
- Depressive episode common
Bipolar 2
- Hypomanic
- > 1 major depressive episode
Cyclothymic
- >2 years fluctuating, mild hypomanic, depressive symptoms
1) Parasite eggs in stool
2) Perianal egg deposition
3) Proglottids in the stool
4) Rhabdoitiform larvae in the stool
5) Trophozoites and cysts in the stool
1) Schistosoma mansoni or S. japonicum
2) Enterobius vermicularis (pinworms)
3) Intestinal tape worms (Taenia solium, T saginata, Diphyllobothrium latum)
4) Strongyloides stercoralis
5) Protozoal infections (Giardia lamblia, entamoeba histolyticsa)
Conjunctiva pallor SOB Constipation Decreased concentration Microcytic anemia - Decreased MCV
What do you see on peripheral smear?
Lead poisoning
Basophilic stippling
1) Heinz bodies
2) Howell-Jolly bodies
3) RIng sideroblasts
4) Schistocytes
5) Basophilic stippling
1) Inclusions of denatured hemoglobin after Oxidant stress in pts w/ G6PD deficiency
2) DNA remnant incusion in peripheral RBC taht are normal removed by spleen, indicates decreased or absent splenic function
3) Formed from precipitation of iron granules in developing erythrocytes due to defect in heme synthesis pathway
(See in bone marrow no peripheral smear)
4) Are fragments of RBC formed from mechanical hemolysis, hemolytic uremic syndrome, thrombocytopenic purpura, and disseminated intravascular coagulation
Lactose deficiency see what in intestine
Normal
Tennis elbow
- muscle
Lateral epicondylitis
Wrist extension
Extensor carpi radialis brevis
Prophylactic medication
Jaundice
Dark urine
RBC w/ dark inclusions
-inheritence pattern?
G6PD deficiency
Heinz bodies
X recessive
Relative erythrocytosis
aka Relative Polycythemia
Normal RBC mass
Decrease in plasma volume
Fever Headache Nuchal rigidity Normal glucose elevated protein
Aseptic meningitis
Enteroviruses
- coxsackievirus
- echovirus
- poliovirus
Ovarian cancer risk factors
Repeat ovulation
- nulliparity
Failure to thrive
Developmental delay
Cant lift head
Orotic acid crystals
Supplementation of what is needed?
Hereditary orotic aciduria
- AR
- disorder of pyrimidine synthesis
- defect in uridine 5- monophosphate (UMP) synthase
Supplement Uridine
Ascorbic acid
Vit C
Posterior left 12th rib fracture injury
Anterior right rib 8-11 fracture
Anterior left ribs 8-11 fracture
Fracture ribs 1-6
L kidney
R liver
Spleen
visceral pleural of lungs
Changes what gene expression
1) 14;18
2) 9;22
3) 8;14
4) Breast cancer
1) Follicular lymphoma
- Bcl-2 overexpression
2) CML
- Bcr-abl
3) Burkitt lymphoma
- C-myc overexpression
4) Erb-B2 overexpression, HER2
Increased hemoglobin=
Erythrocytosis
Excess erythropoietin porduction
1) Linear IgG and C3 deposits on IF microscopy
2) Glomerular basement membrane splitting
3) Glomerular basement fibrin deposition
4) Subepithelial humps on electron microscopy
5) Diffuse capillary wall thickening on light microscopy
6) Glomerular crescents on LM
7) C3 granular straining along GBM
1) Anti-GBM disease
2) Membranoproliferative glomerulonephritis (MPGN) and Alport syndrome
3) Rapidly progressive glomerulonephritis (anti-gbm)
4) Poststreptococcal glomerulonephritis
5) Membranous glomerulopathy
6) Rapidly progressive glomerulonephritis, Anti- GBM disease
7) Poststreptococcal glomerulonephritis
Metabolic vs respiratory
compensation
Metabolic acidosis
- Decrease pH
- Decrease PCo2
- Decrease HCO2
Respiratory acidosis
- Decrease pH
- Increase PCO2
- Increase HCo2
PCO2= 1.5 [HCO3] + 8 (+-2)
Rapid onset sepsis
Altered consciousness
Organ failure
Petechial/ ecchymotic rash
virulence factor
N. meningitidis
Lipo-oligosaccharide (LOS)
Reaction rate in skeletal muscles is dependent on ____ which is activated by
Phosphorylase kinase (PK)
Ca
Skeletal pain
Deformity (bowing of legs)
Focal warmth
Paget disease
How HIV attaches
Attaches to host cells using the viral surface glycoprotein gp120
This glycoprotein bins to teh CD4 as the primary receptor and teh chemokine receptor CC45 as the coreceptor
Conformation change in gp120 exposes teh underlying transmembrane glycoprotien gp41 which mediates viral fusion
Nef
tat
HIV regulatory genes
Nef: downregulates teh expression of class I major histocompatibility complex proteins on teh surface of infected cells, limits immune recognition by cytotoxic T cells
tat: is a transcriptional activator that promotes viral gene expression
(+) for
synaptophysin
Chromogranin
neuron-specific enolase
Small cell carcinoma of the lung
Carcinoid tumor
Temporal hemorrhage affects what nerve
Herniation
CN III
Missouri caves
Histoplasma capsulatum
Macropahges iwth intracellular small yeasts
1) Budding yeast with thick capsule
2) Macropahges with intracellular small yeast
3) Round spherules iwth multiple endospores
4) Septate hyphae with dichotomous branching
5) Yeasts with pseudohyphae and blastoconidia
1) Cryptococcus neoformans
- bird droppings
- immunocompromised
- meningoencephalitis
2) Histoplasma capsulatum
- Missouri caves
- fever nonproductive cough
3) Coccidioides immitis
- pulmonary disease
4) Aspergilus fumigatus
- V shaped branching
- AIDS
5) Candida species
- immunocompromised
Pig farmer
Loeffler syndrome
Ascaris infection
Eosinophilic invasion due to parasitic infection
Most common cause of viral conjunctivitis
Adenovirus
Ds non enveloped linear DNA virus
Listeria is acquired how
Contaminated food
Unpasteurized milk
Uncooked meats
Decrease in RPF causes what in GFR and FF
Decrease in GFR
Increase FF
Anti cholinergic effects
Hot as a hare Dry as a bone Red as a beet Blind as a bat Mad as a hatter Full as a flask Fast as a fiddle
Alpha 1 agonist effects
increase smooth muscle tone of iris dilator (mydriasis)
Blood vessel constriction
Vasoconstriction reduce nasal congestion
DNA binding protein
c-Jun c-Fos
Chalky white lesions in mesentery, fat cell destruction and calcium depositions
Abdominal pain
Acute pancreatitis
Infection from puppy
Campylobacteri jejuni
Exertional shortness of breath
Progressive dyspnea
Lightheadness during exertion
Tricuspid regurg
Pulmonary hypertension
Glucagon MOA
Increases hepatic glucose production via glycogenlysis and gluconeogenesis
What can you suffer from if to quick nitroprusside infusion
tx
cyanide toxicity
tx sulfur
Nissl substance
Normal axonal injury reaction
VSD sign
holosystolic murmur over left sternal border
Fundal varices
splenic vein thrombosis
COPD exacerbation due to
virus: rhinovirus, influenza virus, parainfluenza (most common)
bacterial: h. influenza, moraxella catarrhalis, strep. pneumoniae
Hyperventilation results in
Decrease in arterial partial pressure of CO2
Wrinkles due to
Decrased collagen fibril production
Increase RBC
Intense itching after showering
Polycythemia vera
Mutation Jak2
Hematopoietic cells more sensitive to growth factors
Decrease EPO
Projection
Think wife is cheating cause they are
Displacement
Mad at boss yells at wife
Transference
See psychiatrist as parent
5 y.o difficulty breathing
dysphagia
drooling fever
Swollen and cherry red epiglottis
sign
H. influenzae type B
thumb sign
Child sticking nose in air
Esophagitis
H. infuenzae type B
Cyst in brain
Not IC
Seizures
Taenia solium
Pork tapeworm
Feces contaminated food
Mutations in pol gene in HIV patient
Inconsistent use of antiretroviral–> antiretroviral resistance
Patient in shocks gets IV fluids causes
increase in preload
Stretches myocardium
Increases the end-diastolic sarcomere length
Levothyroxine supplement
TSH <0.01
Risk
Too high supplement
Atrial fibrillation
Copper is eliminated
hepatic excretion into bile
Corynebacterium diphtheriae is virulent how
phage conversion permitting exotoxin production
Permissive effect
One hormone allows another to exert it s maximal effect
Lethary confusion Persistent atrial fibrillation CHF Nauseas and decreased appetitie, vomiting Vision difficulties
Hyperkalemic
Digoxin toxicity
Nitrates MOA
Venodilators
(large veins)
Increase peripehral venous capacitance
–> reducing cardiac preload and left ventricular end-diastolic pressure adn volumne
Release of NE from peripheral autonomic nerve terminals will effect
sympathetic output to the detrusor muscle
Most organs
Smooth muscle
glands
Fever Lethargy urinalysis: positive for proteinuria and hematuria Decreased hemoglobin Elevated reticulocyte count Decreased platelet GI illness scattered petechial rash
renal biopsy
Thrombocytopenic thrombotic purpura-hemolytic uremic syndrome
Platelet rich thrombi in glomeruli and arterioles
Crescent- shaped mass of cellular proliferation and leukocytes
RPGN
macroscopic hematuria
HTN
Progressive renal failure
Good pasture
Diffuse proliferation and subepithelial immunoglobulin deposits
Post streptococal glomerulonephritis
Mesangial IgA deposition and proliferation
Henoch-Schonlein purpura
Palpable purpura
arthritis
Patchy necrosis of tubular epithelium and loss of basement membrane
Acute tubular necrosis
Rising creatinine
Muddy brown granular casts on urinarlysis
RB mutation
BRAF
HER2
KRAS
RET
RB: Retinoblastoma, osteosarcoma
BRAF: Hairy cell luekemia, melanoma
HER2: breast cancer
KRAS: colorectal cancer, non-small cell lung cancer
RET: MEN2
Calculate False positives
Study enrolled 300 patients, 100 have a UTI by urinalysis. New dipstick test 70% sensitive and 90% specific
0.9= D/ 200 TN= 180
False positive= 200-180= 20
Diarrhea
HIV patient
Hemorrhagic nodules or polypoid masses
Spindle cells
Kapsoi sarcoma
-HHV8
What can not be metabolized to pyruvate and cause more lactic acid if pyruvate dehydrogenase deficiency
Lysine
Leucine
Ketogenic AA
Myeloid cells
Myeloblast Metamyelocyte Band Neutrophils Basophils Eosinophils
UV damage
formation of abnromal covalent bonds between adjacent thymine or cytosine rediues (pyrimidien dimers)
Hemosiderin laden macrographes
Chronic passive lung congestion in setting of heart failure (left ventricular systolic dysfunction
Collagen synthesis occurs when
RER
proline and lysine residues are hydroxyalted
Vit C cofactor here
Internal hemorrhoid above pectinate line drain into
External hemorrhoids drain
Superior rectal vein
from inferior mesenteric vein
External drain via inferior rectal vein into internal pudendal vein which communicates with internal iliac veins
Branches of deep external pudendal artery supply the
External iilac vein receives drainage from
Left colic artery branches off, supplies
The superior vesical artery supplies
Supply the scrotum and labia majora
External iliac vein receives drainage from the inferior epigastric and deep circumflex iliac veins, serve the anterior abdominal wall and iliac crest respectively
Branches of inferior mesenteric a. to supply the transverse and descending colon
portions of the urinary bladder and ductus deferens
Complications of herpes zoster
long term residual pain
postherpetic neuralgia
Beta 1 receptor found
Cardiac tissue
Renal JC cells
Not vascular smooth muscle
Nonselective beta blocker who affect all three
Vit B12 deficiency
Type 1 DM
Hashimoto thyroiditis
Pernicious anemia
CD4 mediated immune response against parietal cells
Loss of parietal cells mass
- decrease in intrinsic factor
- decreased secretion of hydrochloric acid
Elevated pH that stimulates gastrin secretion
Tx for alcohol wanting to quit with help
Naltrexone
Apolipoprotein E4 allele
At risk Alz disease
Oval budding yeast forms germ tubes at 37 C
Candida albicans (true hyphae at 37)
Normal commensal of skin and GI
Small ovoid yeast in lungs
Histoplasma capsulatum
- dimorphic
- inhaled as microconidia
- pneumonia
Noncardiogenic pulmonary edema can be distinguished from cardiogenic pulmonary edema by a
normal pulmonary capillary wedge pressure
Pancreatitis
SOB adn hypoxemia
New bilateral opacities
Acute respiratory distress syndrome
Indirect pulmonary insults cause excessive cytokine release leading to endothelial activation, neutrophilic migration to the lungs, degranulation with release of toxic mediators
Increase capilalry permeability
Formation of hyalien membrane
Exercise effect on PaO2, PaCO2, CO and HR
Increase HR and CO
No change PaO2, PaCO2
Crescent formation 3 types
Rapidly progressive glomerulonephritis (RPGN)
1) Antiglomerular basement membrane
2) Immune complex RPGN
- post-streptococcal glomerulonephritis, SLE, IGA, henoch schonlein purupra
- decrease C3 C4
3) Pauci-immune RPGN
- no immunoglobulin or complement deposits
- elevated antineurtrophil cytoplasmic antibodies (ANCA)
SOB Cough Exacerbated when lay down MI Bilateral crackles at lung base S3
Left sided heart failure
–> elevation of end-diastolic pressure
–> decrease lung compliance
zollinger-Ellison syndrome associated with
also at risk for
MEN 1
primary hyperparathyroidism ( hypercalcemia, constipation, kidney stones) Recurrent nephrolithiasis
Pituitary adenomas
Calcifications in epigastric area
abdominal pain
Chronic diarrhea
Consumes alcohol
Chronic pancreatitis
Digestive enzyme deficiency –> diarrhea
Vomiting/ nausea due to
GI irritation (infections chemotherapy, distention) - increase serotonin release and activation of 5HT
Central nausea (migraines) - use dopamine receptor antagonist to stop
Vestibular nausea
- dopamine receptor stimulation and H1 stimulation
- promethazine tx both
Seen in hashimoto on biopsy
Intense lymphoplasmacytic infiltrate with active germinal centers
Hurthle cells
Thyroid biopsy
1) Branching papillae with cells containing empty -appearing nuclei
2) Dense fibrous tissue extending beyond the thyroid capsule
3) Follicular hyperplasia with tall cells projecting into the follicular lumen
4) Intense lymphoplasmacytic infiltrate with active germinal centers
5) widespread inflammatory infiltrates, giant cellls, and disrupted follicles
1) Papillary thyroid cancer
- orphan annie eye
2) Reidel thyroiditis
3) Graves disease
4) Hashimoto
5) Subacute granulomatous (de Quervain) thyroiditis
Ureters anterior to
Internal iliac artery
Drugs with pt fever, joint pains, rash of face and trunk, Positve anti-nuclear ab
Drug induced lupus
SHIPP Sulfonamides Hydralazine Isoniazid Phenytoin Procainamide
Pencillin binding proteins
Transpeptidases
Smokers have 5x the risk of esopahgeal carcinoma compared to non smokers (relative risk = 5.0, 95% CI 2.9-7.1)
What percentage of SCC of the esophagus in smokers can be attributed to smoking?
Attributable risk percentage in exposed (ARP)
ARP exposed= 100 x (risk in exposed - risk in unexposed)/ risk in exposed
ARP= 100 x [(RR-1)/ RR]
ARP= 100 x [(5-1)/5]= 80%
Ionizing radiaton tx for cancer does what
DNA ds breaks
free radical formation
What is released as O2 saturation curve moves up
protons
CO2
Anal fissures occur where
Posterior midline distal to dentate line
Multiple ulcers
Mucosal erosions
Large cells iwth basophili cintranuclear and intracytoplasmic inclusions
CMV
herpesvirus
Patent foramen ovale
wide and fixed splitting
no change with respiration
Headache Fever Malaise Cough Nodular infiltrates Clumping once room temp
Mycoplasma pneumoniae
Walking pneumoniae
Cross reactive IgM
Activate complement –> erythrocyte lysis
Cold agglutinins
Action potential conduction velocity Point 1- 0.05 Point 2 - 0.3 Point 3- 1.1 Point 4- 2.2
Points correspond to what location
AV node
Ventricular muscle
Atrial muscle
Purkinje system
Insulin effect
decrease glucagon secretion
increase glycogen synthesis
Increase glucose uptake
Cirrhosis
Agitated and confused.
Jerky irregular flexion-extension tremor in hands
What is elevated in astrocytes
Hepatic encephalopathy
Increased nitrogen, ammonia
Ammonia + glutamate –> glutamine (non-neuroactive compond)
Demyeliantion of pons
overly rapid correction of electrolyte abnromalities
Neurodegenerative disease presents at birth as “floppy baby”
Werdnig Hoffman disease
Perfusion is greatest where in the lung
-V/Q ratio
Exercise effect of V/Q
Bases
- V/Q <1
Exercise
- V/Q moves down toward 1
- Vasodilation in apex
- perfusion increases
V/Q –> zero
V/Q –> infinity
V/Q –> zero
- low ventilation, high perfusion
- air way obstruction
- pneumonia, pulmonary edema, lung cancer
- supplemental O2 ineffective
V/Q –> infinity
- high ventilation, low perfusion
- blood flow obstruction
- supplemental O2 effective
Responses to exercise
- O2
- Co2
- ventilation rate
- V/Q in apex vs base
- Pulmonary blood flow
- pH
- arterial PO2
- arterial pCO2
- Venous CO2 content
Increase O2 consumption
Increase CO2 production
Increase ventilation rate
V/Q more uniform
Increase pulmonary blood flow due to increase CO
Decrease pH
No change in arterial PO2 and PCO2
Increase venous CO2 content
Normal A-a gradient
Causes of elevated A-a gradient
10-15 mmHg
High FiO2 Shunting o f blood Diffusion limitation (pulmonary fibrosis) V/Q mismatch Advanced age
Pressure alveolar oxygen to pressure arterial oxygen
Name the exotoxin
1) Causes scarlet fever
2) Inactivates EF-2
3) Blocks release of the inhibitory neurotransmitter glycine
1) Erythogenic toxin Pyogenic toxins (s. pyogenes)
2) Diphtheria toxin Exotonin A (pseudomonas)
3) Tetanospasmin (c. tetani)
Underlying cause of achalasia?
How is it diagnosed?
Failure of LES to relax due to loss of myenteric (Auerbach) plexus due to loss of postganglionic inhibitory neurons ( which contain NO and VIP)
Dysphagia solids and liquids
Diagnosis - Manometry (Uncoordinated or absent peristalsis) - Barium swallow (dilated esophagus with an area of distal stenosis ) (birds beak)
Clinical derangements that come about in a patient with acute mountain sickness
Headache
Fatigue
Extreme cases
- Acute cerebral edema due to hypoxia induced vasodilation
- acute pulmonary edema
Partial pressure of oxygen difference at sea level vs 20,000
Sea level= 760 mmHg
20,000= 349 mm Hg
Partial pressure of oxygen is 21% of barometric pressure
Partial pressure is higher at sea level
Response to high altitude (6)
Increase ventilation
- have to breathe more
- blow off more CO2
Increased erythropoietin
- HCT 40% –> 64%
- Hgb 15 –> 20 g/dL
Increase 2,3 BPG
- unloads oxygen to tissue better
Increase mitochondria
Increase efficiency of O2 utilization
Increase renal excretion of bicarb
pH =
Breathing more causes what pH change
HCO3/ pCO2
Respiratory alkalosis
Decreases pCO2 –> raises pH
Physiologic changes that occur in chronic mountain sickness (6)
Increase RBC mass and hematocrit
Increased blood viscosity and decrease tissue blood flow
Elevated pulmonary artery pressure (pulmonary artery constricts in response to hypoxia)
Right sided heart enlargement ( due to increase pulmonary artery pressure)
Peripheral artery pressure falls
Congestive heart failure
Positive G-force in which visual black out occurs
Due to
G force in space lift off
4-6 G
Insufficient blood return to heart
Insufficient pumping of blood to brain
8-9 G
Nitrogen narcosis
Nitrogen dissolves into neuronal membrane, which causes reduced neuronal excitability
Diver becomes jovial/ careless
Loss strength and coordination
Symptoms of decompression sickness
aka “Bends”
Nitrogen bubbles undissolving from blood, make bubbles in blood vessels can occlude
Joint/ muscle pains in arms and legs
Neurologic problems (dizziness, paralysis, syncope)
“The chokes (Bubbles occlude the lung capillaries –> SOB, pulmonary edema, death)
"BENDS" Breathign problems Extremity pain Neurologic changes Death
VIrchow triad for
DVT “SHE”
Stasis
- severely ill, paralyzed, long trips, cast
Hypercoagulability
- sickle cell, polycythemia, estrogen excess, cancer, pregnancy, OCPs, smoking
Endothelial damage
- vessel trauma, fracture, froeign body, bacterial infection
Homan’s sign
Pain with ankle dorsiflexion
DVT
Tall thin young male Smoker Uneven chest expansion Unilateral Chest pain Hyperresonance Dimished breath sounds
Due to
Primary spontaneous Pneumothorax
Due to rupture of apical subpleural blebs or cysts
Location for needle for tension pneumothorax
Above 2nd rib
Pleuritic chest pain SOB Cough Tachypnea Tachycardia Low grade fever
Elevated D dimer
Normal CXR
Large A-a gradient
ECG?
Pulmonary embolism (PE)
ECG S1Q3T3
- deep S in lead I
- large Q and inverted T in lead III
Elevated D-dimer
DVT
PE
The C’s of huntington disease
Chorea Cuarenta (40) CAG repeats Chr Cuatro 4 Cognitive decline Caudate atrophy
FEV1/ FVC normal
Obstructive
restrictive
80%
<80% obstructive
> 80% restrictive
Hexagonal, double pointed, needle like crystals in bronchial secretions
Charcot-Leygen crystals
- eosinophilic granules
Asthma
Spiral shaped mucus plugs
Curschmann spirals
Desquamated epithelium
Asthma
Obstructive lung disease
Pulsus paradoxus
Abnormal drop of 10 mm/Hg in systolic pressure during inspiration
Decreased intrathoracic pressure –> increased right ventricle blood return
Right ventricle push into left ventricle –> poor cardiac output and drop in systolic pressure
Decreased capacity of LV
Cardiac tamponade Asthmatics Severe pulmonary embolism COPD Croup
Hyperplasia of both goblet cells and submucosa glands
Chronic bronchitis
Emphysema increased what
Compliance (loss of elastic fibers)
Right main stem bronchi same size
Productive cough
Increased sputum production
FEV1/FVC <80%
Causes (4)
Bronchiectasis
Allergic bronchopulmonary aspergillosis
Kartagener syndrome
- sinus inversus
Cystic fibrosis (most common)
Primary ciliary dyskinesia
Hallmark of obstructive lung disease
FEV1/FVC= < 80%
Difficulty getting air out
Increased lung volumes
Hallmark of restrictive lung disease
FEV1/FVC= >80%
Decreased lung volume
Can not get air in
Reid index
Thickness/ glands/ thickness of wall
Chronic bronchitis
50% composed of mucus glands elevated reid index= normal
What disease is associated with the Ab
1) Anti- mitochondrial
2) Anti- neutrophil cytoplasmic
3) Antiplatelet Ab
1) anti-mitochondrial
Primary biliary cholangitis
2) Anti-neutrophil cytoplasmic
cANCA
- granulomatosis w/ polyangiitis
pANCA
- Eosinophilic granulomatosis with pollyangiitis (churg-strauss)
- Microscopic polyangiitis
- Pauci-immune crescentric glomerulonephritis
- primary sclerosing cholangitis
- ulcerative collitis
3) Immune thrombocytopenic purpura (ITP)
Female homolog?
1) Corpus spongiosum
2) Bulbourethral glands
3) Ventral shaft of penis
1) Corpus spongiosum
- Vestibular bulb
2) Bulbourethral glands
- Vestibular (Bartholin) glands
3) Labia minora
Most common salivary gland tumor
Pleomorphic adenoma
ARDS pathway
Shock, infection, toxic gas inhalation, aspiration, pancreatitis, heroin OD, sepsis, trauma, uremia, amniotic fluid embolism
–>
Inflammatory cells/ mediators and oxygen free radicals –>
Damage to endothelial or alveolar epithelial (type I) cells –>
Diffuse alveolar damage (DAD)
Sarcoidosis mneumonic
tx
A GRUELING Disease
ACE enzyme increase Gammaglobulinemia Rheumatoid factor Uveitis Erythema nodosum Lmphadnopathy (bilateral, hilar) Idiopathic Noncaseating Granulomas Vit D increase (hypercalcemia or hypercalcinuria)
Glucocorticoids
Honeycomb lung on CT
Patchy interstitial fibrosis
- mutations
- risk factors
- survival
- also seen
Idiopathic pulmonary fibrosis
(cryptogenic fibrosing alveolitis)
Mutations: telomerase, mucin MUC5B
3 year survival
Usual interstitial pneumonia
A 68-year-old man has had worsening dyspnea with a
nonproductive cough for the past 9 months. On physical examination,
he is afebrile and normotensive. On auscultation
of the chest, diffuse dry crackles are heard in all lung fields.
A chest radiograph shows irregular opacifications throughout
both lungs. A transbronchial biopsy is obtained and the
microscopic findings with trichrome stain are shown in the
figure. Laboratory studies include negative serologic tests for
ANA, anti–DNA topoisomerase I, ANCA, and anticentromere
antibody. Despite glucocorticoid therapy, his condition does
not improve, and he dies 2 years later. What is the most likely
diagnosis?
A Goodpasture syndrome
B Hypersensitivity pneumonitis
C Idiopathic pulmonary fibrosis
D Sarcoidosis
E Systemic sclerosis
C. idiopathic pulmonary fibrosis
A 50-year-old man has increasing dyspnea with idiopathic
pulmonary fibrosis, which was diagnosed 18 months
ago. Physical examination shows elevated jugular venous
pressure and pedal edema. Laboratory studies show serum
AST of 221 U/L, ALT of 234 U/L, alkaline phosphatase of 48
U/L, lactate dehydrogenase of 710 U/L, total bilirubin of 1.2
mg/dL, albumin of 3.5 g/dL, and total protein of 5.4 g/dL.
The figure shows the microscopic appearance of a liver biopsy
specimen. Which of the following terms best describes these
findings?
A Apoptosis
B Centrilobular congestion
C Cholestasis
D Hemosiderin deposition
E Macrovesicular steatosis
F Mallory-Denk bodies
G Portal fibrosis
B. Centrilobular congestion
What is low in restrictive lung disease
TLC
FVC
Both FEV1 and FVC decreased
FEV1/FVC = > 80%
Innumerable calcified nodules
Eggshell calcification in hilar nodes
- increased susceptibility to
- increased risk of
Silicosis
Susceptibility to TB
Increased risk of cancer
Sandblasting
Mining
Demolition
Cement/concrete
Silicosis
Shipbuilding
Roofing
Pipe fitting
plumbing
Asbestosis
Fibers in lung bases Dumbbells on stain (prusian blue) Pleural plaques Pleural effusions interstitial fibrosis
- seen w/ cells
- cancer
Asbestosis
Macrophages release inflammatory mediators and free radicals
Cancer
- Bronchogenic carcinoma
- mesothelioma
Tennis racket shaped cytoplasmic organelles
Young adult smoker
Pulmonary Langerhans Cell histiocytosis
Focal collections of langerhans often accompanied by eosinophils
Burbbeck granules
Quit smoking
Lung disease + glomerulonephritis think
Goodpasture syndrome
Granulomatosis with polyangiitis (Wegener’s granulomatosis)
Necrotizing granulomas vasculitis most prominent in lungs and upper airways
Focal necrotizing glomerulonephritis
Granulomatosis with polyangiitis
Bilateral hilar adenopathy
uveitis
Sarcoidosis
CD surface marker fits each of the following
1) Found on all NK cells and binds the constant region of IgG
2) Inhibits complement C9 binding
3) Endotoxin receptor found on macrophages
1) CD16
2) CD55/59
3) CD14
Lung cancer
1) in peripheral lung
2) in central lung
3) most common in non smokers
4) hypercalcemia
5) giant cells
6) ACTH, ADH
7) Ab to presynaptic Ca channels leading to?
8) Mutations in Adenocarcinoma
9) Mutations in TP53, Rb
1) adenocarcinoma, large cell carcinoma
2) SCC, small cell carcinoma
3) Adenocarcinoma
4) SCC
5) Large cell carcinoma
6) Small cell carcinoma
7) Small cell carcinoma
Lambert Eaton syndrome
8) “MARKER”
MET, ALK, RET, KRAS, EGFR, ROS
9) Small cell carcinoma
Lambert Eaton syndrome
Muscle weakness that improves iwth use
Ab against Ca channels
Small cell carcinoma
Tumor in apex of lung
- symptoms
Pancoast tumor
Hoarseness (compress recurrent laryngeal n.) Horner syndrome - ptosis - miosis -anhidrosis (affect cervical sympathetic plexus)
Lung cancer metastasize to
Receive metastases from
To: Brain Bone Liver Adrenal glands
Receive from: Breast Colon Prostate Bladder
Which lysosomal storage disease
1) Accumulation of dermatan sulfate
2) Deficiency in hexosaminidase
1) Hurler dis, hunter syn, scheic syn
2) Tay-sach disease
Which infectious agent fits
1) Common cause of pneumonia in immunocompromised patients
2) Most common cause atypical pneumonia
3) Agent for penumonia in alcoholics
4) Can cause an interstitial pneumonia in bird handlers
5) Pneumonia in pts w/ hx of exposure to bats and bat droppings
6) Pneumonia in pt who visited south california, new mexico, or west texas
7) Pneumonia associated iwth currant jelly sputum
8) Q fever
9) Assocaited with pneumonia acquired from air conditioners
10) Most common cause of pneumonia in children 1 year old or younger
11) Pneumonia in neonate
12) Pneumonia in children and young adults (college, militrary, prison inmates)
13) Viral pneumonia
14) Causes wool-sorter’s disease (life-threatening pneumonia)
15) Common pneumonia in ventilator patients and those with CF
16) Pontiac fever
1) Pneumocystis jirovecii
2) Mycoplasma pneumoniae
3) Klebsiella pneumoniae
4) Chlamydophila psittaci
5) Histoplasma
6) Coccidioides immitis
7) Klebsiella pneumoniae
8) Coxiella burnetii
9) Legionella pneumophilia
10) RSV
11) Group B strep, E coli
12) Mycoplasma pneumoniae
13) RSV
14) Bacillus anthracis
15) Pseudomonas, MRSA
16) Legionella pneumophila
Lung abscess bacteria
Tx
Complication of
Anaerobes
Peptostreptococcus Prevotella Bacteroids Fusobacterium S. aureus Klebsiella pneumoniae Gram negative bacteria
First line for anaerobe
- Clindamycin
Aspiration pneumonia
- alcoholics
- drug abusers
- general anesthesia
Test for sleep apnea
Polysomnography
GI problem associated
1) 50 y.o woman, pruritus w.o jaundice, positive AMA
2) GI bleeding, buccal pigmentation
3) 60 y.o female, RA, no alcohol hx, fatigue, and right abdominal pain, elevated ANA adn ASMA, elevated serum IgG lvel, no viral serologic markers
4) 23 y.o woman no alcohol hx; elevated levels of LKM-1 ab, no viral serologic markers, liver biopsy with infiltration of the portal and periportal area with lymphocytes
5) Fatal disease of unconjugated bilirubin resulting from a complete lack of UDPGT activity
1) Primary biliary cirrhosis
2) Peutz-jegher syndrome
3) Autoimmune hepatitis
4) Autoimmune hepatitis
5) Crigler- Najjar type I
What substances act on smooth muscle myosin light chain kinase?
How does this affect blood pressure
Dihydropyridine Ca channel blockers
Epinephrine (acting at beta2 receptor)
Prostaglandin E2
Relaxation of vascular smooth m -> vasodilation –> decrease BP
Watery diarrhea
Dyspnea and wheezing
Flushed and red
Mass in right liver lobe and ileum
What is it?
Treatment?
Carcinoid syndrome
- secrete serotonin
Hepatic metastasis
Octreotide for symptomatic patients
Developmental delay Difficulty seeing board Tall, thin habitus Elongated limbs Lens subluxation Thrombus and infarct
Supplement?
Homocystinuria
Error of methionine metabolism
AR deficiency cystathionine beta-synthase that requires pyridoxine (Vit B6) as cofactor
A 6-year-old girl is found to be nearsighted during
a vision screening at school, and the school
nurse tells the parents the child should be fi tted
for corrective lenses. Her mother is upset
because her daughter is already much taller
than her classmates, has an awkward gait, and
was recently diagnosed with scoliosis. She is
afraid that the glasses will only add to her
daughter’s problems at school, where her classmates
frequently tease her. When the ophthalmologist
observes that the patient’s right lens is
dislocated, he suspects that her symptoms are
in fact related to an enzyme defi ciency. As a result
of this defi ciency, which of the following
amino acids is essential in this patient’s diet?
(A) Cysteine
(B) Lysine
(C) Methionine
(D) Tryptophan
(E) Tyrosine
The correct answer is A. Homocystinuria is an
inborn error of metabolism caused by a defect
in cystathionine synthase, the enzyme that
converts homocysteine to cystathionine. Cystathionine
is later converted to cysteine, so patients
with this enzyme defi ciency are required
to supplement their diets with exogenous
cysteine. In addition to marfanlike features and
subluxation of the lens, these patients are at increased
risk of a variety of cardiovascular derangements,
includin
Arteries off splenic artery
Short gastric
Left gastroepiploic
CXR reveals a round density with an air fluid level in right lung
Copious sputum
- What is it
- Key player in formation
Lung abscess
Neutrophils that release cytotoxic granules (lysosomes) containing myeloperoxidase
Copious sputum (foul smelling)
intermittent claudication (pain comes and goes) due to
Chest pain relieved by rest
Cause?
Atherosclerosis
Lipid filled arterial intimal plaques
Onion-like concentric thickening of arteriolar walls
Homogenous acellular thickening of the arteriolar wall
Hyperplastic arteriosclerosis
Hyaline arteriolosclerosis
- homogenous deposition of hyaline material in the intima and medial of small arteries and arterioles
Man to ER Found unconscious Temp White patches on mucosa Bilateral crackles in lungs Bilateral interstitial infiltrates
Silver stain
Pneumocystisi pneumonia
atypical fungal infection
Opportunistic infection
Silver stain
Fungi
- coccidoides
- pneumocystis jirovecci
Legionella
Helicobacter pylori
Hernia that originates medial to the inferior epigastric vessels
Defect in
Direct hernia
MDs dont LIe
- medial to inferior epigastric = direct
- lateral = indirect
Weakness of transversalis fascia
Cause of indirect hernia
Location
Lateral to inferior epigastric vessels
Due to patent processus vaginalis
Cause of femoral hernia
Location
Emerges inferiro to inguinal ligament
Widening of the femoral ring is defect
Epistasis
Phenomenon in which the allele of one gene affects the expression of alleles in another gene
Imprinting
Phenomenon in which an offspring’s genes are expressed in a parent specific manner.
Caused by DNA methylation
Person is exercising what value will increase
What will decrease
Venous blood mean CO2 content will increase
pH decreases
- Lactic acid produced
Decrease physiologic dead space
- due to decrease in pulmonary vascular resistance
Mean O2 content of venous blood remains the same or decreases
S. bovis risk of
Streptococcus gallolyticus
Causes subacute bacterial endocarditis
Part of normal flora of colon
Associated with colon cancer
Still get Haemophilus influenzae even though had vaccine how?
The strain responsible for the patients disease does not produce a capsule
H. influenzae nontypeable
Vaccine only against more invasive type b strain
Diuretic that causes hypercalcemia
Thiazide diuretic
Nerve associated with cremasteric reflex
Genitofemoral n.
Nerve that passes through spermatic cord through superficial inguinal ring
Ilioinguinal nerve.
Nerve damaged in appendectomy causes decreased sensation to suprapubic region
Iliohypogastric n.
Fever Malaise sore throat VERY tired Palatal petechiae cervical LAD Splenomegaly
-Assoc with
Mono
- EBV
EBV associated with
Burkitt lymphoma
Nasopharyngeal carcinomas
Mononucleosis
Severe HTN emergency >180/120
Manifests as (2)
Fibrinoid necrosis
Hyperplastic arteriolosclerosis
- onion skin
Glutamate –> alpha ketoglutarate for TCA cycle requires
Oxaloacetate –> aspartate
Transamination
Vit B 6 Pyridoxine
Biotin is cofactor for
Vit B7
carboxylase enzymes - pyruvate carboxylase Acetyl-COA carboxylase Propionyl--CoA carboxylase 3-methylcrotonyl-CoA- carboxylase
Vessel with lowest oxygen content
Coronary sinus
Emysema causes what to lung compliance
Asthma on lung compliance
What shifts the graph right and down? decrease compliance
Increase
Shift left and up
No change
Pulmonary fibrosis
What hormone increases bicarb secretion?
Cell type?
Secretin
- Duodenal S cells
Skin lesion on eyelid
ma
Lipid laden macrophages
Assoc with
Xanthelasma
Associated iwth primary or secondary hyperlipidemias
- Primary biliary cirrhosis
Most common cause of overdose death
Opioids
Aortric regurgitation
Mediastinal widening
+ fluorescent treponemal ab
Suggest?
- Due to
- Begins with
Aortic aneurysm
Syphilis
Vasa vasorum endarteritis adn obliteration
H. influenzae type b virulence factor
Polysaccaride capsule
composed of polyribosylribitol phosphate (PRP)
Goes with?
Lecithinase
M protein
Protein A
Trehalose dimycolate
Polyribosylribitol phosphate (PRP)
Lecithinase: toxin A, clostridium perfringens
- results in cell lysis and gas gangrene
M protein: strep. pyogenes
-Binds factor H to prevent opsonization and destruction by alternative complement pathway
Protein A: staph aureus
- prevent opsonization by binding Fc region of immunoglobulins
Trehalose dimycolate: cellw all component , mycobacterium tuberculosis
- protects from being killed by macrophages and stimulates granuloma formation
Polyribosylribitol phosphate: Haemophilus influenzae type b
- capsule protects against phagocytosis and complement mediated lysis by binding factor H (prevents complement C3b deposition on host cells
Rebound anxiety, tremor, insomnia, palpitations, diaphoresis
Seizure
Benzodiazepine withdrawal
Lorazepam
Itching after hot showers
Fatigue
Rash worse with rubbing
Flushing
Clusters of mast cells
Systemic mastocytosis
Excessive histamine
Excessive histamine causes
Mastocytosis
Gastric hypersecretion
Hyperestrogenic states can cause
Gynecomastia
Spider angiomata
- estrogen effect on arteriolar dilation
Continous IV infusion with first order kinetics takes __ half lives to reach 95%
4-5
High urinary excretion of ketones suggests
absolute insulin deficiency
Diabetes type I
Huntingtons neuroimaging
Caudate atrophy with enlargement of the lateral ventricles
Enlargement of frontal horns of the lateral ventricles
Seen with?
1) Diffuse ventriculomegaly without sulcal widening
2) Enlargement of frontal horns of the lateral ventricles
3) Hypoplastic vermis with a dilated fourth ventricle
4) Pronouced atrophy of bilateral hippocampi
5) Regional atrophy of frontal and temporal lobes
1) Normal pressure hydrocephalus
2) Huntington’s dis
3) Dandy-walker malformation
4) Early onset alzheimer dis
5) Frontotemoral dementia
Winging scapula can occur due to what nerve and what event
Long thoracic nerve to serratus anterior
Axillary LN dissection
Histopathologic evaluation of syphilis lesion
Intense plasma cell rich infiltrate with proliferative endarteritis
What is this?
1) Acantholysis with superficial dermal lymphocytic infiltrate
2) Dysplastic spndle cells iwht viral genome that form vascular channels
3) Intense plasma cell-rich infiltrate with proliferative endarteritis
4) Panniculitis and sepal inflammation with multinucleated giant cells
5) Papillomatous epidermal hyperplasia with cytoplasmic vacuolization
1) Pemphigus vulgaris
2) Kaposi sarcoma
3) Syphilis
4) Erythema nodosum
5) Anogenital warts, HPV-6
Headaches Dizziness Facial plethora (reddish) Splenomegaly Peptic ulcer disease Increased erythrocytes
- Mutation
Polycythemia vera
- uncontrolled erythrocyte production
Abnormal transduction of erythropoietin growth signals
Mutation in JAK2
Erythropoietin receptor has no intrinsic kinase activity and must interact with JAK2 a cytoplasmic tyrosine kinase
Mutation of
1) Growth stimulating transcription factor
2) Tumor suppressor protein
1) c-myc
- burkitt lymphoma
2) p53
- Li-fraumeni syndrome
Protein 4.5 g
antinuclear ab
glomerular capillary wall thickening
Irregular spikes protruding from glomerular basement membrane
Membranous glomerulopathy
HIV process involving glycosylation
Only glycosylated HIV polyprotein is gp160
- product of the env gene
gp160 is extensively glycosylated in the rough ER and golgi
cleaved into envelope proteins gp120 and gp41
gp120: mediates viral attachment
gp41: mediates viral fusion
HIV pol gene encodes for
reverse transcriptase
integrase
protease
RT: ssRNA –> ds DNA
Integrase: integrate into host genome
Protease: cleave HIV polyproteins into individual proteins after trasncription in rough ER
Acondroplasia inheritence
AD
Anorexia Nausea Dark-colored urine Trip to mexico Fever Right upper quadrant pain
liver biopsy?
Acute viral hepatitis
HAV
Hepatic swelling
Seen with?
1) Fibrinoid necrosis of liver
2) Liquefactive necrosis
3) Hepatocyte swelling
4) Regenerative nodules
1) Fibrinoid necrosis= immune vasculitis or malignant hypertension
2) Liquefactive necrosis= severe viral hepatitisor entamoeba histolytica infection
3) Hep A acute infection
4) Regenerative nodules= cirrhosis form chronic hepatitis
For viral particle to be coupled to MHC class I it first has to be involved with what
Ubiquitin ligase
Increase in fructose 2,6 bisphosphate causes a decrease in
Inhibits gluconeogenesis
Decrease Alanine –> glucose
Thiamine deficiency
Get thiamine infusion
What neurologic finding will persist despite treatment?
Memory loss
Korsakoff syndrome
Airway resistance from trachea –> medium sized bronchi –> bronchioles –> terminal bronchioles
Airway resistance increases from trachea to medium sized bronchi
Decreases after that due to lower respiratory tract are arranged in parallel
N gonorrhoeae infection and repeat infections
High variability of gonococcal surface antigens (porins, opa proteins and lipooligosaccharide) limits effectiveness of antibody response
Previous infections results in almost no protective immunity against future infections
Decrease in PAH level would be due to
Carrier transport saturation
Vaginal discharge
Grayish white
Fishy smelling
What is seen on microscopy?
Epithelial cells covered with gram-variable rods
Identify
1) Epithelial cells covered with gram-variable rods
2) Epithelial cells with rare leukocytes
3) Gram-negative intracellular diplococci
4) leukocytes and pear-shaped organisms
5) Pseudohyphae with leukocytes
1) Gardnerella
2) normal vaginal discharge
3) Gonorrhea
4) trichomonas vaginitis
5) Candida vaginitis
Back pain that is better when leaning on stroller
Thickening of what?
Ligamentum flavum
Spinal stenosis
Paroxysmal atrial fibrillation can be caused by aberrant electrical foci in the
Aberrrant electrical foci in the pulmonary veins
Alpha 1 effects
Examples
Increase blood pressure
Contraction of internal urethral sphincter
Mydriasis (eye dilation)
- contraction of pupillary dilator muscle
Epinephrine
NE
Phenylephrine
Methoxamine
Beta 1 effects
examples
Heart
- Increase HR, contractility and conductance
Epinephrine
Dopamine
Dobutamine
Isoproterenol
Beta 2 effects
examples
Vasodilation
Decrease diastolic BP
Bronchodilation
Relaxation (uterus)
Isoproterenol
Terbutaline
Ritodrine
What releases growth factors in formation of atheroma
platelets
Rapid onset Headache Fever Altered mental status Nuchal rigidity Pruritic rash
Type of vaccine?
Meningococcal meningitis
Capsular polysaccharide Ag
Vaccine with inactivated (killed organisms)
RIP Always
Rabies
Influenza (injection)
Polio (oral)
Hep A
Vaccine with live attenuated organisms
“Attention Teachers! Please vaccinate SMALL, Beautiful Young INFants with MMR Regularly!”
Adenovirus Typhoid Polio Varicella Small pox BCG Yellow fever Influenza (intranasal) MMR Rotavirus
Vaccine with virus-like particles
Subunit type
Induces only the Ag that stimulate the immune system
Hep B
HPV
Hypercalcemia
Lung mass
Hypercalcemia of malignancy
Parathyroid hormone-related peptide (PTHrP)
Multiple polyps found in colon due to mutation of
Familial adenomatous polyposis
APC mutation
What mutation
1) Lung adenocarcinoma
2) CML, ALL
3) Follicular lymphoma
4) non-hodgkin lymphoma
5) Neuroblastoma
6) Melanoma
7) MEN 2A and 2B
8) Colorectal cancer assoc w/ FAP
9) Hairy cell leukemia
10) Osteosarcoma
11) Li-Fraumeni
12) Tuberous sclerosis
13) Burkitt lymphoma
14) Colon cancer
15) Diffuse large B cell lymphoma
1) ALK
2) BCR-ABL
3) BCL-2
4) BRAF
5) n-myc
6) BRAF, CDKN2A
7) RET
8) APC
9) BRAF
10) Rb
11) TP53
12) TSC1/2
13) c-MYC
14) KRAS
15) BCL-2
Exertional dyspnea Dry cough Bilateral hilar adenopathy Reticular pulmonary infiltrates ACE and Ca elevated
Predominant cell type?
Sarcoidosis
CD4 lymphocytes
Painless lymph node enlargement
Translocation?
Follicular lymphoma
t(14;18)
Most common cause of bilateral fetal hydronephrosis in boys
Posterior urethral valves
Heart murmur
Best heard when patient sits up and leans forward
Peak intensity?
Aortic regurgitation
Just after aortic valve closure
What causes the green color of sputum
Neutrophil myeloperoxidase
Pathologic finding of varicella zoster
Multinucleated cells with intranuclear inclusions
Identify
1) Acantholysis and intrercellular IgG deposits
2) Eosinophilic cytoplasmic inclusions
3) Microabscesses at the tips of dermal papillae
4) Multinucleated cells with intranuclear inclusions
5) Koilocytosis of the superfical epidermal layers
1) Pemphigus vulgaris
2) Molluscum contagiosum (poxvirus)
3) Dermatitis herpetiformis
4) Varicella zoster
5) HPV of skin w/ warts
Serotonin syndrome
Mental status changes Hyperthermia Sympathetic hyperactivity Clonus Hyperreflexia
Neuroleptic malignant syndrome
Tx
Mental status changes Hyperthermia Sympathetic hyperactivity Diffuse rigidity (lead pipe) Hyporeflexia
Dantrolene
Dopaminergic drugs
- Bromocriptine (DA agonist)
- Amantadine (Increase DA release)
Meningitis –> bleeding from venous puncture sites
Results in what cells
Disseminated intravascular coagulopathy (DIC)
Schistocytes
Bite cells
Oxidant induced damage
G6PD deficiency
Surgery –> Fever, lethary, N/V
Scleral icterus
RUQ tenderness
Elevated AST, ALT and bilirubin
What drug used during surgery
Acute hepatitis
Inhaled halogenated –> hepatocellular damage
-flurane
High fever
Nasal discharge
Bilateral conjunctival injection
Several small white spots with an erythematous base on buccal mucosa
No vaccines
What else is seen
Measles
Maculopapular rash
Measles vaccine is
Live attenuated
Vesicular rash
Chicken pox
Myalgia Fatigue HA Chills Fever
Sick and recovered
Mild jaundice
Hepatosplenomegaly
Elevated indirect bilirubin
Ringed inclusions
Malaria
Trophozoites (ringed inclusions) on Giemsa
Dormant hepatic phase
Virus that infects by CD21
Virus that infects by glycoprotein gp120
Virus that infects via the blood group P antigen (globoside)
1) EBV
2) HIV
3) Parvovrus B19
Damage seen due to megaloblastic anemia
Vit B12 deficiency
Damage to dorsal column of spinal cord
Axonal degeneration of the peripheral nerves
Loss of poition and vibration sense
Gait problems
Pear shaped organism
Watery diarrhea
Small bowel shows?
Immune mechanism?
Giardia lamblia
(parasite)
Villus atrophy and crypt hyperplasia
CD4 T cells and secretory IgA production
Lesion to cerebellar vermis leads to
truncal ataxia
Gait ataxia
Pain in both knees
Pain in multiple joints
Blue-black spots on sclerae
Diffuse darkening of the auricular helices
Deficiency?
Alkaptouria
AR
Deficiency of homogentisic acid dioxygenase
Accumulated homogentisic acid
Decreased ceruloplasmin
Wilson disease (copper buildup)
Proteinuria
Hematuria
lactate dehdyrogenase elevated
Renal infarction
Renal vein thrombosis due to antithrombin III loss
HTN is defined as
> = 140/90
3 different occasions
Tearing chest pain that radiates to the back
See on CXR?
TX?
Aortic dissection
Widening of the mediastinum
Large aorta, double circle
Lower BP
- Beta blocker
Substances that act on smooth muscle mysoin light chains kinase
How does this affect blood pressure
Dihydropyridine Ca channel blockers
Epinephrine (acting at beta 2 receptor)
Prostaglandin E2
Relaxation of vascular smooth m.
Vasodilation
Decrease BP
Loss of forearm pronation nerve
Median
Guillain- Barre syndrome preceded by what infection
Symmetric ascending muscle weakness
Campylobacter jejuni
(CMV, HIV, EBV, mycoplasma pneuonae)
Where do neurons of the lateral corticospinal tract synapse prior to exiting the spinal cord
At the cell body of the anterior horn
Endogenous hormones that stimulate gastric acid secretion
Endogenous hormone that inhibit gastric acid secretion
Drugs that regulate secretion
Stimulate
- Histamine
- Acetyl choline
- Gastrin
Inhibit
- Prostaglandins
- Somatostatin
- Secretin
- GIP
Drugs that regulate
- PPIs
- H2 blockers
- Antimuscarinic drugs (atropine)
What type of lipoproteins accumulates first in atherosclerosis
What cell adheres next
Steps
LDL
Macrophages and foam cells
1) Endothelial dysfunction
2) Accumulation of lipoprotein
3) Monocytes adhesion
4) Migration into intima transformation –> macrophages and foam cells
5) Factor release (platelets, macrophages)
6) Smooth muscle proliferation, deposition extracellular matrix elastin and collagen
7) Lipid accumulation
Onion skin appearance of vessels
Arteriolosclerosis (Not atherosclerosis)
Hyperplasia of vascular smooth muscle cells
Hyaline thickening of arterioles
Most common MI
Anterior wall MI
LAD
Inferior wall MI artery
Lateral wall MI artery
Inferior: Posterior descending A (RCA most common)
Lateral: circumflex
Chest pain in younger adult
Occurs at rest
- Due to
- ECG changes
- Tx
Prinzmetal angina (variatn angina)
Coronary artery spasm
ST segment elevation
Dihydropyridine Ca channel blockers (Nifedipine)
Classic presentation of congenital pyloric stenosis (5)
2-6 weeks age
Nonbillous projectile vomiting
Palpable “olive” RUQ
Hypochloremic metabolic alkalosis
Hypokalemia
Relays what type of information from thalamus
1) Ventral posterior lateral
2) Lateral geniculate
3) Ventral posterior medial
4) Ventral anterior
1) Somatosensory info from body
2) Visual retinal to occipital lobe
3) Somatosensory from face
4) Motor basal ganglia to cortex
Changes seen on EKG after MI
Hours
1-2 days
Weeks
Hours
- ST elevation
- R wave decreases
- Q wave appears
1-2 days
- T wave inverts
- Q wave deepens
Weeks
- ST normal
- T wave normal
- Q wave persists
Dressler syndrome
Post MI pericarditis
Chest pain
Pericardial freiction rub
Persistent fever occuring several weeks after MI
Type of hyperbilirubinemia that responds to phenobarbital
Crigler Najjar type II
Gilbert
ECG leads the correspond
1) Left anterior descending
2) Left circumflex
3) Right coronary
4) Right coronary (posterior descending )
1) Anterior wall
V1-V4, V5
2) Lateral wall
aVL, V5, V6, lead I
3) Inferior wall
II, III, aVF
4) Posterior wall
- R precordial ECG, V4
MI
Sudden onset mitral regurgitation
New holosystolic murmur
Cardiac tamponade
Papillary muscle rupture
Intraventricular septal rupture (VSD)
Ventricular wall rupture
- bleeding into pericardium
Cardiac tamponade
Compression of heart by fluid
Decrase Cardiac output
Equilibration of diastolic pressures in all 4 heart chambers
Hypotension Distended neck veins Distant heart sounds Increased HR Pulsus paradoxus
Electrical alternans
Kartagener syndrome
Situs inversus
Bronchiectasis
Recurrent sinusitis
Dynein arm defect
A 2-year-old boy presents to the pediatrician
with fever, facial tenderness, and a green, foulsmelling
nasal discharge. The patient is diagnosed
with sinusitis, and the physician notes
that he has a history of recurrent episodes of sinusitis.
X-ray of the chest is ordered because of the fever; it reveals some dilated bronchi and
shows the heart situated on the right side of his body. A congenital disorder is diagnosed. Which other finding would this patient be
most likely to have?
(A) Defective chloride transport
(B) Elevated blood sugar
(C) Infertility
(D) Reactive airway disease
(E) Tetralogy of Fallot
C. infertility
Kartagener’s syndrome
Bronchiectasis
Abnromal bronchial dilation caused by chronic infection
Purulent sputum
A 19-year-old man has a history of recurrent mucoid
rhinorrhea with chronic sinusitis and otitis media since childhood.
He has experienced multiple bouts of pneumonia. His
temperature is 37.7° C. On examination of his chest, there is
tactile fremitus, rhonchi, and rales in lower lung fields. Nasal
polyps are noted. A chest radiograph shows bronchial dilation
with bronchial wall thickening, focal atelectasis, and areas of
hyperinflation; his heart shadow appears mainly on the right.
Which of the following abnormalities is he most likely to have?
A α1-Antitrypsin deficiency
B Atopy
C Chloride ion channel dysfunction
D Ciliary dyskinesia
E HIV infection
D. Ciliary dyskinesia
Carcinoid syndrome
B FDR
Bronchospasm and wheezing
Flushing
Diarrhea
Right sided heart lesions
Painful red nodules on finger and toe pads
Erythematous maculoes on palms and soles
Splinter hemorrhages in fingernails
Fever
Organisms?
Acute vs subacute
Endocarditis
- inflammation of valves
S. Aureus
Viridans streptococci
Enterococcus
Coagulase neg staph
Acute
- s. aureus
- days
- normal valves
Subacute
- Viridans streptococci
- wks –> months
- previously damaged valves
Systolic murmer louder with valsalva
- due to
Softer with squatting
- due to
Tx
Hypertrophic cardiomyopathy
- Hypertrophy of interventricular septum
- outflow tract obstruction
Reduces preload
Increases afterload
Beta blocker
Verapamil
Endocarditis with streptococcus bovis also check
Colon cancer
Endocarditis with negative blood cultures
HACEK
- Haemophilus
- Actinobacillus
- Cardiobacterium
- Eikenella
- Kingella
Coxiella burnetii (Q fever)
Bartonella
Brucella
Endocarditis mneumonic
Treatment
Bacteria FROM JANE Fever Roth spots (eye) Osler nodes (tender fingertip) Murmur Janeway lesions (painless) Anemia Nail bed hemorrhage Emboli
Prophylactic Penicillin
Empiric IV vancomycin (covers staph and strep)
Retinal hemorrhages with pale centers
Roth spots
Infective endoarditis
Valve affected in infective endocarditis
Valve affected in IV drug user infective endocarditis
Mitral valve
Tricuspid valve
Kussmaul’s sign
JVD during inspiration
Right sided heart problem
Decreased capacity of RV
Constrictive pericarditis (»tamponade)
Aschoff bodies
Anitschkow cells
Aschoff bodies
- granuloma with giant cells
- area of fibrinoid necrosis infiltrated by lymphocytes and giant cells
Anitschkow cells
- activated histocytes with owl eye appearance
EKG change with pericarditis
Diffuse ST elevation
Most common primary cardiac tumor in adults
Myxomas
Left atrial myxoma
Ball valve obstructs mitral valve –> syncopal episodes
Plop sound
Tuberous sclerosis is associated iwth what three tumors
Rhabdomyoma
Astrocytoma
Angiomylipoma
What heart pathology
1) Focal myocardial inflammation with multinucleate giant cells
2) Chest pain and coarse rubbing heart sounds in patient with Cr of 5.0
3) Tree barking of the aorta
4) ST elevation in all ECG leads
5) ECG shows electrical alternans
6) Child with fever, joint pain, cutaneous nodules, four weeks after throat infection
1) Aschoff bodies
- Rheumatic heart disease
2) Uremic pericarditis
3) Tertiary syphilis
4) Pericarditis
5) Cardiac tamponade
6) Acute rheumatic fever
Primary biliary cholangitis vs primary sclerosing cholangitis
PBC
- Autoimmune
- (+) AMA
- Middle aged female
PSC - (+) p-ANCA - Males > 40 - Assoc: UC and cholangiocarcinoma ERCP: alternating beading stricturing
Fever Jaundice RUQ pain Hypotension Altered mental status
Reynold’s pentad for cholangitis
Pulseless disease
Poor pulses in extremities
Young asain female
- Histology
- Elevated
Takayasu arteritis
Granulomatous inflammation of arteries of teh arotic arch
Elevated ESR
Unilateral headache
Jaw claudication
Vision loss
- Histology
- Elevated
- Assoc with
- Tx
Giant cell arteritis
aka temporal arteritis
Inflammation of branches of external carotid artery
- temporal arteries
Vision loss (occlusion of opthalamic artery)
Elevated ESR
Polymyalgia rheumatic
- pain and joint stiffness
High dose steroids for several months
Child Fever 5 days Conjunctivitis Rash on trunk Cervical lymph nodes swollen Red tongue Erythema on hands and feet
Potential for?
Tx?
Kawasaki disease (Mucocutaneous lymph node syndrome)
Potential for coronary aneurysms
- rupture
- thormbosis –> MI
Tx
- VI immunoglobulin
- Hig dose aspirin
Only child you give asprin to?
Kawaski disease
Gangrene of fingers
Smoker
Male in 40s
THromboangititis obliterans
Buerger disease
Small medium peripheral arteries adn veins
Cold sensitivity
Stop smoking
Hep B
Vasculitis
(-) anca
involves
spares
assoc with
Tx
Polyarteritis nodosa (PAN)
Involves kidneys, skin, GI, heart
spares lungs
Associated iwth hep B adn C
Corticosteroids
Recent upper respiratory infection
Palpable purpura on butt and legs
Abdominal pain
Protein and blood in urine
- also have what disease
- Tx
Henoch-Schonlein purpura
(IgA vasculitis)
Renal dease
- IgA nephropathy (berger’s disease)
Nephritis andhematuria
Self limiting
Patient with asthma Sinusitis Multinucleated giant cells and eosinophils \+ p-ANCA Increased IgE
Eosinophilic granulomatosis with polyangiitis
Churg-Strauss syndrome
A 53-year-old man with a long-standing history of allergic rhinitis and asthma presents with uveitis, mild hearing loss, numbness and tingling in his right hand, and diffuse joint pain for the past 10 days. Physical examination shows
weak to absent left knee patellar reflexes (right knee reflex strong and intact). Laboratory studies
show a markedly elevated eosinophil count. A diagnosis is made, and the patient is treated
with cyclophosphamide. Further laboratory studies show elevated serum levels of the most common autoantibody associated with this condition. What structure is primarily targeted by the autoantibodies that are most likely elevated in this patient’s serum?
(A) Acetylcholine receptors
(B) Neutrophils
(C) Oligodendrocytes
(D) RBCs
(E) TSH receptors
B
p-ANCA
- Ag
- Ab
c-ANCA
- Ag
- Ab
p-ANCA
- Myeloperoxidase (MPO)
- MPO-ANCA
c-ANCA
- Proteinase 3 (PR3)
- PR3-ANCA
Affects both kidneys and lungs
Granulomatosis with polyangiitis (GPA)
Goodpasture
Dyspnea Hemoptysis Heamturia Saddle nose \+c-ANCA Necrotizing granulomas
Tx
Granulomatosis with polyangiitis (GPA)
Wegners
Focal necrotizing vasculitis
A 46-year-old man comes to the clinic with a cough that is occasionally productive of blood,
diffuse muscle and joint pain in the upper extremities,
and blood in his urine for the past several days. On further questioning, the patient
reveals that he has had chronic sinusitis for the past several years. The patient has a low grade fever and nasal ulcerations. Laboratory
studies show a markedly elevated erythrocyte
sedimentation rate, and staining for antibodies to cytoplasmic antigens of neutrophils is positive.Biopsy of a nasal ulceration reveals vasculitis
and necrotizing granulomas. Which of the following is the most likely diagnosis?
(A) Alport’s syndrome
(B) Giant cell (temporal) arteritis
(C) Goodpasture’s syndrome
(D) Takayasu’s arteritis
(E) Wegener’s granulomatosis
E. wegeners
(+) p-ANCA
Eosinophilic granulomatosis with polyangiitis
Microscopic polyangiitis
(+) c-ANCA
Granulomatosis with polyangiitis (GPA)
Necrotizing vasculitis of lungs kidneys skin
Crescentic GN
Palpable purpura
+ p-ANCA
Doesnt have
Microscopic polyangiitis
No naropharyngeal involvement
Recurrent nose bleeds Gi bleeding Hematuria Telangiectasias Skin discolorations Microcytic anemia
- inheritence
Hereditary Hemorrhagic Telangiectasia
aka osler-weber rondu syndrome
AD
Due to vascular malformations in mucosa –> prone to bleeding
Microcytic anemia
Iron deficiency
Thalassemias
Lead poisoning
Normocytic Hemolytic anemia
Sickle cell HbC disease Pyruvate kinase deficiency G6PD deficiency Paroxysmal nocturnal hemoglobunuria Hereditary spherocytosis
Megaloblastic macrocytic anemia
Folate def
Vit B12 def
orotic aciduria
Fanconi anemia
Can cause perforation of nasal septum
Vasculitis
Granulomatosis with polyangiitis (wegener’s granulomatosis)
Anti smooth muscle Ab
Antimitochondrial Ab
Autoimmune hepatitis
Primary biliary cholangitis
Chronic granulomatous disease
suspectable to
Lack NADPH oxidase activity
Catalase positive
s. aureus
aspergillus
Port wine stain Intellectual disability Hemiplegia Calcification of outer boarder of brain Also see
Sturge-Weber disease
- affects capillaries
Seizures
Early onset glaucoma
Hemiplegia (paralysis one side body)
Leptomeningeal angioma
Red polyp on skin
Can ulcerate and bleed
Assoc w/ trauma and pregnancy
Pyogenic granuloma
Red prominent bumps smooth dots
Baronella henselae
Bacillary angiomatosis
Large dark brown spots on legs
Kaposi sarcoma (KS)
Herpes virus 8
Raynaud phenomenon associ with
Blue fingers in cold
SLE
CREST scleroderma
Thromboangiitis obliterans (Buerger dis)
Mixed CT disease
What cell type secretes histamine that stimulates the histamine receptor on parietal cells
Enterochromaffin -like cells (ECL cells)
Cohort study gives
Relative risk
A/A+B) / (C/ C+D
Cross sectional gives
Prevalence
Plummer vinson
Dysphagia
(esophageal webs)
Glossitis
Iron deficiency
what changes depending on disease prevalence?
PPV increases with increasing prevalence
NPV decreases with increase prevalence
Sensitivity equation (2)
A/ A+C
1- false negative rate
What is seen in distal duodenum of patients with celiac sprue
Blunting of villi
Hyperplastic crypts
Lymphocytes in lamina propria
Attributable risk (AR) equation
AR= incidence disease (exposed) - incidence of disease (unexposed)
AR= (A/ A+B) - (C/C+D)
Odds ratio
(A/B)/ (C/D)
Relative risk
Probability to getting disease in exposed group compared to unexposed group
(A/A+B) / (C/C+D)
Absolute risk reduction (ARR)
(C/C+D) - (A/A+B)
Number needed to harm
1/ AR
AR= (A/ A+B) - (C/C+D)
Number needed to treat (NNT)
NNT= 1/ ARR
ARR= (C/C+D) - (A/A+B)
NNT? 100 acute stroke patients given tPA 40 have complete recovery 400 acute not give tPA 80 have complete recovery
60 40
320 80
(320/ 400) - (60/100)= 0.2
NNT= 1 / 0.2= 5
Most common benign salivary gland neoplasm
Most common malignant slaivary gland neoplasma
Most common location for salivary gland neoplasm
Pleomorphic adenoma
Mucoepidermoid carcinoma
Parotid gland
Positive skew
Tail toward positive direction (to right)
Mean > Median > Mode
Negative Skew
Tail on left
Mean < Median < Mode
Small p value
indicates that the study values didnt occurred on chance alone
Reject null
Statistically significant
Type I error
alpha
Stating there is an effect when there isnt one
Accusing an innocent man
False positive
Type II error
beta
Stating there is no effect when there is one
You blindly let the guilty man go free
False negative
Power=
Probability that a test will correctly reject the null hypothesis
Increases with increased number of study participants
1-beta
Confidence interval =
CI= mean +- Z (SEM)
90% CI; Z= 1.5
95% CI; Z= 2
99% CI; Z= 2.5
SEM= standard dev/ squr root ( sample size)
One standard deviation away from zero percentage
2 standard deviation away
3 standard deviation away
68%
95%
99.7%
Male vs female
Diseased vs not diseased
Comparing percentages of members
Test?
Chi-squared
Correlation coefficient (r)
Measure of relationship of two variables
r= - 0.8 straight negative line r= - 0.4 spread out up negative line r=0 no relationship r= 0.4 spread out positive line r= 0.8 straight positive line
Blood pressure between men and woemn test
T test
What hormones stimulate pancreatic secretion
Acetylcholine
CCK
Secretin
IPV vaccine
Poliomyelitis
Meningococcal vaccine recommendation
11 or 12 yo
Boooster at 16
What diarrheal illnesses should be reported
Salmonella
Shigella
E/M
ICD-10
CPT
E/M= evaluation and management codes
ICD-10= international classification of diseases
(diagnosis)
CPT= current procedure terminology
(produre done)
Capitation
Fixed payment for a period of time or number of patients (ER shift, concierge practice)
Which department in a hospital oversees the maximization of the quality of care while minimizing the cost of care?
Utilization management department
In patient with elevated alkaline phosphatase, elevation in which other serum lab markers would point toward a diagnosis of liver disease?
AST
ALT
GGT
Ethical duty to act in the patients best interest
Beneficience
Physicians must strive to treat people fairly
Justice
Dont need informed consent from parents or guardians for (7)
Emancipated minors STDS Pregnancy Drug addiction Child of a minor Minor serving a sentence of confinement Emergency situation
Right sided heart failure signs
Peripheral signs
Lower extremity edema
Jugular venous distention
Hepatosplenomegaly
What areas of the hypothalamus regulate the autonomic nervous system
Anterior hypothalamus: parasympathetic
Posterior: sympathetic
Pneumonia in neonates (Birth to 28 days
Pneumonia in children
Pneumonia in adults
Neonates
- Group B streptococcus
- E coli
- Chlamydia trachomatis
- HSV
Children
- Viruses (RSV)
- Streptococcus pneumoniae
- Mycoplasma pneumoniae
- Chlamydophila pneumoniae
Adults
- Streptococcus pneumoniae
- H. influenza
- Mycoplasma pneumoniae
- Chlamydophila pneumoniae
- Influenza virus
Elderly
- Streptococcus pneumoniae
- H. influenza
- Influenza virus
- S. aureus
- Gram negative rods (klebsiella )
Organism taht causes pneumonia in each of these patients
1) Alcoholic patient
2) Patient with decrased level of consciousness
3) Pt w/ cystic fibrosis
4) Pt w/ HIV and CD4<200
5) Post-influenza
6) Acquired from patio-cooling water mister
7) Travel to southwestern U.S.
8) Exposure to bird/ bat droppings in ohio missiissippi river
9) Patient with pet parrot
1) Klebsiella
2) Anaerobes
3) Pseudomonas
4) Pneumocystis jirovecii
5) Staphylococcus aureus
6) Legionella pneumophilia
7) Coccidioides immitis
8) Histoplasma capsulatum
9) chlamydophila psittaci
Meningitis by age
Neonates
Infants/children
Adults
Elderly adults
Neonates
- Group B strep
- E.coli
- Listeria monocytogenes
Infants/ children
- Streptococcus pneumoniae
- Neisseria meningitides
- H. influenza type B
- viruses (enteroviruses)
Adults
- strep pneumoniae
- Neisseria meningitidis
- enteroviruses
Elderly
- Streptococcus pneumoniae
- Listeria
- Gram negative rods (ecoli)
Meningitis gram positive diplococci
Streptococcus pneumoniae
Meningitis gram negative coccobacilli
H. influenzae
Meningitis gram positive rod
LIsteria monocytogenes
Variola virus
Pox virus
Small pox
Respiratory droplets
Contaminated objects
Rash around mouth –> spread to face –> trunk extremities
What type of meningitis?
1) Unvaccinated child
2) Outbreak in dorm
3) Meningitis with petechial rash
4) Patient with HIV
5) RBCs in CSF + temporal lobe involvement on MRI
1) H. influenza type B
2) N. meningitis
3) N. meningitides
4) Cryptococcus neoformans
5) HSV encephalitis
CSF findings bacterial meningitis
Opening pressure WBC count Cell type Protein Glucose Gram stain
Increased pressure
Increased WBC
Neutrophils
HIGH protein
Decreased glucose
Gram stain positive
CSF findins TB/ fungal meningitis
Opening pressure WBC count Cell type Protein Glucose Gram stain
Increased pressure
INcreased WBC
Lymphocytes
Increased protein
Decreased glucose
No stain
CSF findings in viral meningitis
Opening pressure WBC count Cell type Protein Glucose Gram stain
Normal or increased opening pressure
WBC increased
Lymphocytes
Normal or increased protein
Normal glucose
No stain
Meningitis
Slightly increased protein
Normal glucose
Incrased opening pressure
Viral meningitis
1) Newborn with chronic diarrhea, Failure to thrive
Chronic candidiasis
2) Child with eczema, coarse facial features and cold abscesses
3) Child with partial albinism, pepripheral neuropathy, and recurrent infections
1) Severe combined immunodeficiency (SCID)
2) Hyper IgE syndrome
3) Chediak- Higashi disease
Frothy yellow green
Fishy odor
pH > 4.5
Pear shaped
Tx
Trichomonas vaginalis
Metronidazole
Thick white cottage cheese like
4-4.5 pH
Tx
Candida spp
Azoles
Nystatin
Thin gray-white fishy odor
>4.5 pH
Clue cells
Tx
Gardnerella vaginalis
Part of normal flora
Metronidazole
Clindamycin
Budding yeast and peudohyphae
Candidiasis
Strawberry cervix
Trichomoniasis
Perinuclear cytoplasmic clearing
Koilocytes
HPV
What can have painful inguinal lymphadenopathy
Bubo
Lymphogranuloma venereum
Chlamydia trachomatis
Identify
1) Multiple painful ulcers
2) Painful single ulcer
3) Painless ulcer, raised indurated edges
4) School of fish
5) Granulomatous lesions on skin ( large areas of dying flesh)
1) Herpes simplex
2) Haemophilus ducreyi
3) Syphilis
4) Haemophilus ducreyi
5) Tertiary syphilis
- Gummatous syphilis
Adhesion to liver
Violin strings
FItz-Hugh Curtis
Extension of PID
WBC cast
Formed in tubules of kidney
Pyelonephritis
Gram negative rod
Swarming motility
Urease positive
Forms what
Proteus mirabilis
Hydrolyzes urea to ammonia
Urine more alkaline
Struvite stones
Magnesium ammonium phosphate stones
Staghorn calculus
Staghorn calcus
Urease producing bacteria
Proteus mirabilis
Kelbsiella
Rash followed by desquamation of hands and feet (sloughing of skin)
Snuffles (blood tinged nasal secretions)
Skeletal abnromalities
Hepatomegaly
Early manifestations Congenital syphilis (during first 2 years)
Frontal bossing Interstitial keratitis Hutchinson teeth Saddle nose Perforation of hard palate Sabershins
Late mnaifestation of congenital syphilis
Infects transfered through placenta or during birth
TORCHeS
Toxopolasmosis Other (parvovirus B19) Rubella CMV HIV/HSV Syphilis
Pregnant lady and cat feces or undercooked meat
- What happens
Toxoplasmosis
Chorioretinitis
Hydrocephalus
Intarcranial calcifications
Child
Red rash on cheek spread to chest and shoulder
Parvovirus B19
Severe fetal anemia
Ascites
Pleural effusions
Hydrops fetalis
Parvovirus B19
Newborn Cataracts Harsh machine like murmur Deafness Blueberry muffin rash
Rubella
Newborn
Jaundice
Hepatosplenomegaly
Sensorineural hearing loss
CMV
Nosocomial infection
1) Catheter assoc UTI
2) Ventilator assoc pneumonia
3) Central lines infxn
4) Surgical wounds/ decubitus ulcers
5) Parenteral nutrition
1) E. coli
Gram neg rods
Pseudomonas
Candida
2) Pseudomonas
Staph aureus
3) Staph epidermdiis
4) Staph aureus
5) Candida
Osteomelitis
Gangrene organism
Clostridium perfringens
Alpha toxin
Wolff parkinson White syndrome
D wave (curving of slope between P and R wave
Ventricular pre-excitation syndrome
Abnormal fast accessory conduction pathway from atria to ventricle (bypass AV)
Ventricles begin to partially depolarize earlier
–> SVT
Infantile cataracts
Galactokinase deficiency
Classic galactosemia
Rubella
Vit B12 used for
Methionine synthase
Herpes virus
dsDNA
Calcium stone due to diuretic
Thiazide diuretic
Cataracts and deafness
Rubella
Migraine NT
Excessive glutamate
Liver abscess
E histolytic
Protozoan
Amebic dysentery
Bloody dirarrhea
Eosinophils
E. histolytica
Saccular aneurysm
aka berry aneurysm
ACA
Empysema
Increase compliance
Increases alveolar dead space
Hesselbach triangle?
Inguinal ligament
Inf. epigastric
Lateral border rectus abdominis
Carbamoyl phosphate synthetase (1 and 2)
CPS-1
- urea cycle
- mitochondria
- source of nitrogen: ammonia
CPS-2
- pyrimidine synthesis
- cytosol
- source of nitrogen: glutamine
Rate limiting step in pyrimidine synthesis
Carboamoyl phosphate synthetase 2
Rate limiting step in purine synthesis
Inhibited by
Glutamine PRPP amidotransferase
6-mercaptopurine
Sources of carbon in sythesis of purines?
In pyrimidine synthesis?
Pyrimidine: aspartate, CO2
Purine= CO2, glycine, tetrahydrofolate
What medication inhibits each
1) Ribonucleotide reductase
2) Dihydrofolate reductase
3) Thymidylate synthase
4) Inosine monophosphate dehydrogenase
5) PRPP amidotransferase`1)
1) Hydroxyurea
2) Trimethoprim
Methotrexate
3) 5-fluorouracil
4) Mycophenolate
5) 6-mercaptopurine
How many adenine residues are found in a molecule of DNA if one strand contains A= 2000
G= 500, C= 1500 T=1000
2000 + 1000= 3000
Self-mutilating behavior
intellectual disability
Gout
- Deficency
- inheritence
- tx
Lesch-Nyhan syndrome
Deficency HGPRT
X linked
Allopurinol
Febuxostate
Orotic acid in urine + elevated serum ammonia
- inheritence
- causes
Ornithine transcarbamylace deficiency
X linked recessive
Excess carbamoyl phosphate –> orotic acid
Hyperammonemia
Decreased BUN
No megaloblastic anemia
Orotic acid in urine + normal serum ammonia
- deficency
- inheritence
- feature seen
- tx
Orotic aciduria
Deficiency of UMP synthase
AR
Megaloblastic anemia
Tx: Uridine supplementation
Megaloblastic anemia that does not improve with B12 and folate
Orotic aciduria
Histones consist of what amino acids
Lysine and arginine
Pyrimidine synthesis requires what four things
Aspartate
Co2
Glutamine
ATP
Purine synthesis requires what 5 things
Cats PURRR until they GAG and Cough on Fur balls
Purine synthesis
GAG= glycine, aspartate, glutamine
Cough= CO2
Fur balls= folic acid or tetrahydrofolate
SCID due to
Adenosine deaminase deficiency
DNA Polymerase I:
DNA polymerase III:
I: Breaks down RNA primer fills in gap w/ DNA
III: leading strand 5 –> direction
Lagging stand, short discontinous segments
DNA enzyme that can go in 3–> 5 direction and 5–> 3 direction
DNA polymerase I
3–> 5 remove 1 nucleotide at a time
5–> 3 remove 1-10 nucleotides
DNA polymerase alpha
DNA polymerase beta
DNA polymerase delta
DNA polymerase episilon
DNA polymerase gamma
Alpha
- makes own primer
- replicates first 20 nucleotides
Beta
- DNA repair
Delta
- Build okazaki fragments on lagging strand
Episilon: Elongates teh leading strand
Gamma: Replicates mitochodnrial DNA
Base excision repair (5)
Glycosylase
- recognized damaged bases and removes them
Lyase
- cuts 3’ end of back bone
Endonuclease
- cuts the 5- end and removes backbone
DNA polymerase beta
- Fills gaps
Ligase
-seals
Mismatch repair
Nick daughter strand upstream and remove a whole bunch of bases
Redo replication and fill gap
DNA repair that repairs both strands
Nonhomologous end joining
Hereditary nonpolyposis colorectal cancer DNA defect
-risk of
Defect mismatch repair
Increased risk of colon cancer
Xeroderma pigmentosum DNA repair defect
- inheritence
- cant do
- increased risk
AR
Defective nucleotide excision repair
Sensitive to sunlight
Cant remove pyrimidine dimers from UV radiation
Increased risk of skin cancer, melanoma, SCC, basal cell
Bloom syndrome
- DNA defect
- Sensitive to
- increased risk
Mutation of helicase
- DNA replication
- DNA repair
Hypersensitive to sunlight
Increased risk of leukemia and lymphoma
Ataxia-telangiectasia defect
- syndrome
- elevated
- sensitive to
Defect repair of dsDNA breaks
IgA deficiency
Cerebellar ataxia
Smooth persuit with eye
Elevated alpha fetoprotein after 8 months
Sensitive to ionizing radiation
BRCA1 and BRCA 2 DNA repair defect
dsDNA breaks
What strand of DNA nucelotide opposes this DNA strand?
5’ - ATTGCGTA-3’
5’- TACGCAAT- 3’
Which eukaryotic DNA polymerase performs this function
1) Replicates lagging strand
2) Synthesizes RNA primer
3) Repairs DNA
4) Replicates mitochondrial DNA
5) Replicates leading strand DNA
1) DNA polymerase delta (first 20 alpha)
2) Alpha
3) Beta
4) Gamma
5) Epsilon (alpha first 20)
What gets compressed in pregnant female to decrease blood pressure when supine
Inferior vena cava
DNA promoter regions
- 25 Hogness/ TATA box
- 75 CCAAT box
- 10 Pribnow/ TATAAT box
Operator region of transcription
Binds repressor or inducer
Located between promoter region and start site
Response elements of trascription
Enhancer region and repressor region
Increase or decrease the rate of transcription
Location: close to, far from or within the promotor region
mRNA
tRNA
rRNA
mRNA
- messenger RNA
- coupled to DNA template
- transcribed into proteins
- largest type
- made in nucleoplasm
tRNA
- transfer RNA
- matches to mRNA and brings AA, transfers mRNA to polypeptide chain
- Smallest type
- made in nucleoplasm
rRNA
- Part of ribosome
- binds AA together
- Most abundant
- made in nucleus
Start codon
AUG
Methionine
Stop Codons
UGA
UAA
UAG
What breaks down lactose into two particles
beta-galactosidase
Into glucose and galactose
What do you need for transcription of beta-galactosidase. When is it present
CAP (catabolite activating protein)
-Present when glucose absent
Allolactose
- lactose metabolite binds to lac repressor protein and changes shape
- Present with abundant lactose
5- cap
- what is it
- provided by
1- methyl-guanosine cap
Provided by s-adenosyl-methionine (SAM)
specific signal to start polyadenylate tail
AAUAAA
Substances that inhibit reuptake of NE
Cocaine TCAs SNRIs - venlafaxine - duloxetine Methylphenidate Bupropion
When enzyme matches amino acids to tRNA
Aminoacyl tRNA synthetase
Tendon xanthomas
Cafe au alit spot
Boot shaped heart
Familial hypercholesterolemia
NF1, McCune albright syndrome
RVH –> tetralogy of fallot
Triad of tuberous sclerossi
Seizures
Intellectual disability
Angiofibromas (reddish borwn bumps on nose/ cheeks)
Autosomal dominant inheritence
Disease?
Both male and female
Every generation affected
50% in any generation
Von Hippel Lindau Von Willebrand Dis ALS Retinoblastoma MEN Tuberous sclerosis Hereditary spherocytosis Huntington's disease Marfan Ehler's danlos syndrome Neurofibromatosis Familial adenomatous polyposis Osler-weder-Rondu Achondroplasia Family hypercholesterolmia ADPKD
X linked dominant disease
Fragile X
Autosomal recessive
Type
25% offspring
ONly 1 generation
Alpha 1 AT Beta-thalassemia PKU Hemochromatosis Wilson's dis Bernard-Soulier Hartnup syndrome Glanzman thrombasthenia Fanconi Cystic fibrosis Pompe dis Sphingoolipidoses Mucopolysaccharidoses Sickle cell disease Cori disease McArdle Albinism Von Gierke
X linked recessive
50% sons affected
Hunter Lesch-Nyhan Fabry disease Meinke's disease Wiskott Aldrich syndrome G6PDH Bruton's agammaglobulinemia Duchenne's muscular dystrophy Hemophilia A Hemophilia B Diabetes insipidus
Single gene has more than one effect
Mutations oat different loci have same phenotype
Pleiotrophy
Locus heterogeneity
Prader-Willi
POP
Prader willi
Overeating Obesity
Paternal gene
Angelmann
MAMA Maternal gene Angelmann Mood- happy laughter Ataxia
Southern blot
Northern Blot
Western blot
Southwestern blot
Southern
- DNA sample, DNA probe
Northern
- RNA sample, DNA probe
Western
- Protein sample, Ab probe
Southwestern
- Transcription factors, DNA binding proteins
- DNA binding proteins sample, Oligonucltide probe
Direct ELISA test for
Antigens
Indirect ELISA test for
Antibodies
Hallmark of COPD on pulmonary function testing
Decreased FEV1/ FVC
Schizophrenic brain
Smaller
Enlarged ventricles
Thin cortex
Increase dopamine in mesolimbic
Decrease dopamine in mesocortical
RNA made from different polymerase
RNA polymerase I
RNA polymerase II
RNA polymerase III
I= rRNA
II= mRNA
III= tRNA
Hallmark of restrictive lung disease
Decrease in total lung capacity
Normal FEV1/ FVC ratio
Dystonia
sustained muscle contraction
Adjustment disorder
Identifiable psychosocial stressor
<6 months after stressor gone
Virchow node
Left supraclavicular LN
Gastric cancer metastasis
Pattern of behaviors that violate social norms and rights of others
Conduct disorder
Theft
Violence
Fire
Cruelty to animals
< 18 conduct
> 18 antisocial personality disorder
Trichotillomania
Tx
Hair pulling disorder
Education
Cognitive behavioral
Fluoxetine (SSRI)
Clomipramine (TCA)
Redirection of emotions or impulses to a neutral person or object
Displacement
Partially remaining at a more childish level of development
Surgeon throws tantrum in operating room because last case ran late
Fixation
Separating feelings from ideas and events
Describing murder with not emotional response
Isolation
Replacing a warded-off idea or feeling with an (unconsciously derived) emphasis on its opposite
Lustful thoughts so go to church
Reaction formation
Alleviatin negative feelings via unsolicited generosity, which provides gratification
mafia boss makes large donation of charity
Altruism
Replacing an unacceptable with with a course of action that is similar to the wish but socially acceptable
Teenagers aggression towards parents because of high expectations is channeled into excelling in sports
Sublimations
30 year old says you are the best doctor shes ever had, nurses are the worst. Threatens to change doctors when you wont do a particular lab test
Personality disorder?
Borderline personality disorder
Splitting
Fear of abandonment
Self mutilation
Women comes into office wearing all black, and excessive lipstick. Talks to everyone in waiting room. Wearing feather boa
Also?
Histrionic personality disorder
Sexually provocative
A patient with IL-12 receptor deficiency is at particualr risk for what type of infection?
Mycobacterial
Alcohol has affects on what receptors
GABA
Alcohol in hospital for 2-3 days Sudden confusion Nightmares Agitation Disorientation Hallucinations Fever HTN Seizures
Tx
Delirium Tremens
Benzo
Alcohol
Wernicke-Korsakoff damages what
Medial thalamus and mamillary bodies of posterior hypothalamus
What embryologic structure of the heart gives rise to each of the following adult structures?
1) Smooth parts of the left and right ventricles
2) Smooth part of the right atrium
3) Trabeculated left and right atria
4) Trabeculated parts of the left and right ventricles
1) Smooth parts of the left and right ventricles
= Bulbus cordis
2) Smooth part of the right atrium
= Right horn of sinus venosus
3) Trabeculated left and right atria
= primitive atria
4) Trabeculated parts of the left and right ventricles
= primitive ventricle
Mesonephros
- does what
- becomes
Fetal kidney (1st trimester)
Becomes male genital system
Potter sequence due to
Failure of ureteric bud to develop
No collecting system
Nothing to induce metanephros to develop into nephron
Bilateral renal agenesis
Horseshoes kidney gets stuck on
Associated iwth
Inferior mesenteric artery
Turners syndrome
What remains in capillaries after filtration
Blood cells
Platelets
Large proteins
Exits through efferent arterioles
Juxtaglomerular apparatus composed of
Juxtaglomerular cells
- secrete renin
Macula densa
- specialized sensory cells
- senses if Na in lumen of distal nephron is too low
Three things that cause JG cells to secrete renin
Beta adrenergic stimulation
Low Na in DCT
Low pressure in afferent arteriole
Effect of GFR, RPF, FF
1) Increase serum protein
2) Ureter stone obstruction
3) ACE inhibitors
4) NSAIDS
1) Osmotic load keeps fluid in
GFR: Decrease
RPF: No change
FF: Decrease
2) High hydrostatic pressure in Bowman capsule, favors blood staying in capillaries
GFR: decrease
RPF: No change
FF: decrease
3) Dilate efferent
GFR: Decrease
RPF: Increase
FF: Decrease
4) Afferent constriction
GFR: decrease
RPF: decrease
FF: no change
How much of body is water?
Extracellular fluid
Interstitial fluid
Plasma volume
Intracellular fluid
60% total
40% Intracellular
20% Extracellular
- 75% Interstitial fluid
- 25% Plasma
Renal clearance=
UV/P
Urine concentration of substance x urine flow rate / plasma concentration substance
Substance that gives GFR
Normal GFR
Inulin
Creatinine
90-135 (think 100)
Substance that gives Renal plasma flow
PAH
Filtration fraction=
GFR/ RPF
Normally 20%
Prostaglandin effect of GFR, RPF, FF
Vasodilators
Dilate afferent arterioles
Angiotensin II on GFR, RPF, FF
Constrict efferent arterioles
Filtered load=
Reabsorbed amount=
Secretion=
FL= GFR x P (plasma)
Reabsorbed= filtered - excreted
Secretion= excreted - filtered
A 55-year-old woman has had worsening problems
with memory and the ability to carry out tasks of daily living
over the past year. She has had watery diarrhea for the past
3 months. Physical examination shows red, scaling skin in
sun-exposed areas. Deep tendon reflexes are normal, and sensation
is intact. Which of the following diseases is she most
likely to have?
A Beriberi
B Cheilosis
C Hypothyroidism
D Marasmus
E Pellagra
Pellagra 3D’s
Hartnup disease
Deficient transporter for neutral amino acids (tryptophan)
Inability to make niacin (Vit B3)
What is HUS
Hemolytic uremic syndrome
Associated w/ E.coli 0157:H7
Hemolytic anemia (red blood cells being destroyed)
Thrombocytopenia
Acute kidney injury
What is absorbed in PCT first half
All glucose
All amino acids
2/3 fluid
2/3 electrolytes
Reabsorbs primarily
- Bicarb
- Na
Na transporter
- PCT (early)
- PCT (late)
- Thick ascending
- Early distal tubule
PCT (early)
- Na/ X (glucose, AA, lactate) into cell
PCT (late)
- Na reabsorption is with chloride
Thick ascending
- Na/K/ 2CL transporter
Early distal tubule
- Na/ Cl-
Relative concentrations of ultrafiltrate along proximal tubule (graph)
“Plasma Concentrations Increase Unless Cleared by Kidneys”
PAH Creatinine Inulin Urea Chloride Potassium
Sodium
Water
HCO3
Aminoacids
Glucose
What do you need to get an anion from interstitium to lumen
What do you need to get an cation from interstitium to lumen
alpha-ketoglutarate
Cation - Na/K ATPase (2 Na/ 3 K) - electrochemical gradient - Cation move down gradient in to cell Cation/H exchange into lumen
Responsible for water reabsorption
Impermeable to Na
Thin descending limb
Water follows osmotic gradient into hypertonic medulla
Concentrates lumen
Thick ascending limb
- fxn
- what also gets in
- what doesnt
- Result
Actively absorbing Na, Cl, and K (passive in PCT)
Ca and Mg sneak inbetween cells
Impermeable to water
Dilutes urines
PTH acts on
Ca in early distal convoluted tubule
ADH works on
V2 vasopressin receptors on principal cells in collecting tubule
Tells cells to insert aquaporins into lumen surface of cells
Allows water to be resorbed
Lithium
- Enters through Na channel
- Blocks aquaporin
Potassium-sparing diuretics (2 types)
“SEAT”
Aldosterone antagonists
- Spironolactone
- Eplerenone
Inhibit epithelial Na channel
- Amiloride
- Triamterene
What class of drug inhibits Na/2Cl/K symporter in thick ascending limb
Loop diuretics
Cause isotonic water excretion
Two cells in collecting duct and function
Principal cells
- reabsorb water and Na
- secrete K
Intercalated cells
- Secrete H or HCO3
- reabsorb K
Two types of intercalated cells
Alpha cells (A cells) - Secrete H
Beta cells (B cells) Secrete HCO3
What diuretic directly affects principal cells
Potassium sparing diuretics
What effect does aldosterone have on the principal cells and intercalated cells of the collecting duct?
Principal= reabsorptionof Na and secretion of K
Intercalated cells: stimulates secretion of H
What bacteria secrete enterotoxins?
Vibrio cholerae Enterotoxigenic E.coli Staph aureua Shigella Yersinia Clostridium spp.
Charcot’s neurological triad
Associated iwth MS
Scanning speech
Intention tremor
nystagmus
Damage to which part of substantia nigra causes hypokinesia
Substantia nigra pars compacta
What shifts potassium out of cells –> hyperkalemia
Low insulin Beta blockers Acidosis Digoxin Cell lysis
What shifts potassium into cells –> hypokalemia
Insulin
beta agonist
Alkalosis
Cell creation
You have a patient with an EKG with tall peaked T waves
Tx?
Hyperkalemia
1st: IV calcium
- to prevent arrhythmias
- wont correct hyperkalemia
To correct hyperkalemia:
Beta agonist (albuterol)
IV bicarb
IV insulin + dextrose
Atrial natriuretic peptide
- Released from
- Due to
- MOA
- Effect
Release by atria of heart due to increased atrial volume and atrial pressure
ANP on kidneys –> constrict efferent arterioles and dilates afferent arterioles
Increase GFR, diuresis
SIADH caused by
Too much ADH
Small cell lung cancer COPD, pneumonia Head trauma Stroke CNS infection Drugs: cyclophosphamide
Locked in syndrome
Central pontine myelinolysis
Correct hyponatremia too quickly
Causes lysis of myelin and pons
Diabetes insipidus
Too little ADH
Cant concentrate urine
Central
- Abnormal ADH production by hypothalamus
Nephrogenic
- Kidneys unresponsive to ADH
- Lithium, hypercalcemia, mutation
Patient with excessive thirst and polyuria
What to do?
1) First think DM
- check urine and serum glucose
2) Check urine and serum osmolality
- Low urine osmolality
- High serum osmolality
3) Water deprivation test
- Healthy: dehydrate –> secrete ADH –> concentrate urine
- DI: urine osm stays low
4) Desmopressin challenge
- ADH analog
- Central: increase osm
- Nephrogenic: no change
Polymyositis vs polymyalgia rheumatica
Polymyositis
- muscle weakness
- increased CK and aldolase
- Increased ANA
- Positive Anti-Jo
Polymyalgia rheumatica
- Joint pain
- No muscle pain
- No weakness
- Normal Ck and aldolase
MPTP exposure causes depletion of waht
Dopamine
pH
pCO2
HCO3
pH= 7.35-7.45 pCO2= 35-45 HCO3= 22-28
Anion gap
[Na]- [Cl] - [HCO3]
10-12 normal
Adding acids to blood does what to anion gap
Add acid, buffered by bicarb
Lowers bicarb amount
Increases anion gap
–> High anion gap
High anion gap acidosis
“MUDPILES”
Methanol Uremia (renal failure) Diabetic ketoacidosis Propylene glycol Iron tablets/ Isoniazid Lactic acid (shock or coding) Ethylene glycol Salicylastes (aspirin)
Normal anion gap acidosis
DIarrhea
Renal tubular acidosis
Spironolactone
Acetazolamide
Normal anion gap metabolic acidosis
Urine pH > 5.5
Renal tubular acidosis Type I
Alpha intercalated cells in collecting tubule unable to secrete H
Hypokalemia
Normal anion gap metabolic acidosis
Urine pH < 5.5
Hyperkalemia
Renal tubular acidosis Type 4
Often due to hypoaldosteronism
If low not putting potassium into urine
Hyperkalemia
Prevents PCT from generating NH4
Normal anion gap metabolic acidosis
Urine pH < 5.5
Hypokalemia
Renal tubular acidosis Type 2
Proximal tubule defect of HCO3 reabsorption
Hypokalemia
hypophosphatemia
Renal tubular acidosis three types
Type 1
- Impaired hydrogen (H) excretion
1 letter
Type 4
- impaired ammonium (NH4) excretion
- Type 4= NH4 = aldo
Type 2
- impaired BIcarb reabsorption
pH equation
HCO3/ pCO2
Nephritis vs Nephrosis
NephrOsis
- Proteinuria > 3.5 g day
- Hyperlipidemia
- Hypoalbuminemia
Nephritis
- Proteinuria < 3.5g
- HTN
- Hematuria
- Hardly any urine (oliguria)
I= eye= symptom you can see
Poststreptococcal glomerulonephritis
PSG= 3 letters
Lump3- Bump3
C3
3 wks poststrep
Type 3 rxn
Subepithelial humps
Coca-cola urine
Decrease C3
Increase anti-streptolysin O
Decrease anti-DNase B
Rapidly progressive glomerulonephritis
“Crescentic”
Rapidly crescentic glomerulonephritis
Crescentic shaped
Made up of fibrin and complement and cellular debris
Diffuse proliferative glomerulonephritis
Dilupus
Wire loops= wire lupus
SLE
Thin distinct membrane
Wire loop
SLE
Anti ds DNA
Lupus
Diffuse proliferative glomerulonephritis
Vision problems
Deafness
Protein in urine
Coughing up blood
Cant see Cant pee Cant hear high C
Alport syndrome
Splitting of basement membrane
Defect in Type IV collagen
Al-4
Type IV
4 things
Lung, kidney, ear and eyes
Goodpasture syndrome
Goodpasture= 2-pasture
Type II hypersensitivity
2 organs (lung + kidneys)
Ab vs Type IV collagen
Wegeners Gramulomatosis
Granulomatosis w/ polyangiitis
We-C-ners C over stick figure - nasopharynx - lungs - kidney
C-anca
Palpable purpura on butt and legs Abdominal pain Increased IgA RBC casts Hematuria
IgA Nephropathy
Henoch-Schonlein purpura
What nerve most likely damaged in fibula neck fracture
Common peroneal n.
Defining features of nephrotic syndrome
Proteinuria > 3.5 g/day
Hypoalbuminemia
Peripheral edemia Hyperlipidemia
Flattening or effacement of podocyte foot process
Child
Post URI
Tx
Minimal change disease
Corticosteriods
Minimal
- kids= minimal age
- foot= minimal body part
HIV patient
Proteinuria
Focal segmentla glomerulosclerosis (FSGS)
Spike and Dome
Membranous Glomerulonephropathy
Thickening of basement membrane
Hep B and Hep C
Subepithelial immune deposits
Membranous glomerulonephropathy
” suck some dick to become a MEMBER of the club”
Blow job= Dome
Who sucks dick= Hepatitis
Membranoproliferative glomerulonephritis
Prolife
“Train Track”
Hep B and C
Subendothelial humps
Focal segmental Glomerulosclerosis (FSG)
FSG HIV
Half glomerulus affected
Round acellular nodules
Kimmelstiel wilson nodule
Diabetic nephropathy
Congo red stain
Apple green birefringence
Amyloidosis
Glomerular histology reveals multiple mesangial nodules. THis lesion is indicative of what disease
Diabetic nephropathy
Prerenal azotemia vs intrinsic renal disease
Prerenal
- Urine Na < 20 mEq/L
- FE(Na) < 1%
- BUN:CR >20:1
Intrinsic
- urine Na > 40
FE (Na) > 2%
BUN:Cr 10-15:1
Urinary Casts made up of
Secreted by
Tamm-Horsfall mucoprotein
Secreted by tubule epithelial cells
Muddy Brown Casts
Drugs that cause
Acute tubular necrosis
Most common cause of acute kidney injury
Acute necrosis or death of epithelial cells
Aminoglycosides
Cisplatin
Azotemia
Nitrogen in blood
High urea
High creatinine
Fever
Eosinophilia
Azotemia
Maculopapular rash
Acute interstitial nephritis (AIN)
Gross hematuria
Flank pain
Azotemia
HTN
Renal papillary necrosis
1) Hyaline casts
2) RBC casts
3) WBC casts
4) Epithelial cell casts
5) Granular casts
6) Fatty casts
7) Waxy casts
1) Hyaline casts= Normal patient with concentrated urine
2) RBC casts = Glomerular bleeding (glomerulonephritis, vasculitis)
Yellow brown
3) WBC casts= Tubular interstitial disease, acute pyelonephritis, proliferative glomerulonephritis
4) Epithelial cell casts= Acute tubular necrosis, acute interstitial nephritis, glomerulonephritis
5) Granular casts= Acute tubular necrosis, muddy brown
6) Fatty casts= nephrotic syndrome, contain cholesterol (maltese cross)
7) Waxy casts= end stage renal disease
Basic metabolic panel for patient with renal failure
INcreased BUN adn Cr Increased K Decrease Calcium Decrased bicard (metabolic acidosis)
WBC casts
Pyelonephritis
What is associated iwth AD polycystic kidney disease
Hepatic cysts
Intracrnail aneurysms
Mitral valve prolapse
ADPKD vs ARPKD
ADPKD
- mutation: PKD1 (chr 16) , PKD2 (chr 4)
ARPKD
- mutation PKHD1 (chr 6)
- infancy
oliguria –> potter
Small shrunken kidneys and fiborsis
Autosomal dominant tubulointerstitial kidney disease
aka medullary cystic kidney disease
Progressive renal failure
Stone
1) Envelope (square)
2) rectangle (coffin lid)
3) hexagon
4) rhombus or rosette
1) Calcium oxalate
2) struvite
3) cystine
4) uric acid
Renal cell carcinoma
- arises from
- deletion –>
- triad
- secretion
- pathology
PCT in the cortex
Deletion on Chr 3
(Von Hippel Lindau dis)
Flank pain, hematuria
palpable abdominal mass
Polycythemia
- erythrocytosis due to excess erythropoeitin production
Solid tumor wit “clear cells” full of lipids and carbohydrates
Intellectual disability
Absence of iris
renal tumor
Child
Also see
Wlims tumor (nephroblastoma)
Also see genitourinary malformations
Cryptorcidism, bicornuate uterus
Painless hematuria
Major risk
Transitional cell carcinoma (urinary tract)
Smoking
Aniline dyes
Naphthylamine dyes
Cyclophosphamide
WAGR complex
Wilms tumor
Aniridia (no iris)
Genitourinary malformation
Mental retardation
Organism that causes bladder cancer
Squamous cell bladder cancer
schistosoma haematobium
Middle east
Urinary blood fluke
Trematode
Developmental milestones
3 m
6 m
9 m
12 mo
3 mo 3= before everything else
- roll
- hands together
- laugh and squeal
- smile
6 mo “Six= S’s”
- Sit up
- Switch objects between hands
- Shmooze
- Self feed
- Stranger danger
9 mo “9= P’s (9 in penis)
- Pull itself (crawl)
- Pincer grasp
- Papa
- play
- permance (object)
12mo “TWELVE= T’s”
- Two legs (stand, walk)
- Track ( object tracking), block in a cup
- 2 words
- 2 of use (separation anxiety)
- drink from cup
Apgar score
1 and 5 minutes after delivery
0-10
Appearance
0= cyanotic
1= blue extremities
2= pink
Pulse
0= absent
1= < 100
2= > 100
Grimace
0= no response
2= cries and pulls away from stimulus
Activity
0= limp and floppy baby
2= flexed arms and legs, resist extension
Respiration
0= absent effort
1= slow irregular or labored
2= crying and vigorous breathing
What zoonotic bacterium causes each
1) Cat scratch fever
2) Lyme disease
3) Recurrent fever from variable surface antigens
4) Bloody diarrhea
5) Q fever
6) Tularemia
7) Leptospirosis
8) Cellulitis and osteomyelitis from cat or dog bites
1) Cat scratch fever
- Bartonella
2) Lyme disease
- Borrelia burgdorferi
3) Recurrent fever from variable surface antigens
- Borrelia recurrentis
4) Bloody diarrhea
- Campylobacter (puppies, livestock, fecal oral, sexual)
5) Q fever
- Coxiella burnetti (spores from tic feces, cattle placenta)
6) Tularemia
- Francisella tularesis
7) Leptospirosis
- Leptospira spp (animal urine)
8) Cellulitis and osteomyelitis from cat or dog bites
- Pasteurella multocida
First step in glucose utilization
Phosphorylate it to trap in muscle
Hexokinase
Glucokinase
- liver and beta cells
Main enzymes in glycolysis pathway
- Hexokinase/ glucokinase
- Phosphofructokinase-1
- Pyruvate kinase
Muscle biopsy on patient reveals elevated glycogen levels, elevated fructose-6- phosphate, and decreased pyruvate. What enzyme is deficient?
Phosphofructokinase-1 deficiency
Insulin on glycolysis pathway
Glucagon on pathway
Doesn’t directly stimulate glycolysis
Stimulates Phosphofructokinase-2 (fed)
–> Forms fructose-2,6 BP
Glycogen formation stimulated by insulin
GLucagon
- stimulates FBPase-2 (fasting)
- -> Fructose-6-P
Increase in fructose-2,6 BP leads to
Decrease conversion of alanine –> glucose
To get ATP need
Which requires
That is from
What is needed for that
That comes from
Get that from
This occurs where
TCA and oxidative phosphorylation occur where
ATP from Oxidative phosphorylation
NADH needed for oxidative phosphorylation is from TCA cycle
Need acetyl-CoA for TCA cycle
Acetyl-CoA from decarboxylation of pyruvate
Pyruvate is from glycolysis of glucose
Glycolysis in cytosol
TCA and oxidative phosphorylation are in mitochondria
Aerobic metabolism two different types of shuttle
Malate-aspartate shuttle
- Heart liver and kidneys
- 32 ATP
Glycerol-3-phosphate shuttle
- brain adn skeletal muscles
- 30 ATP
GLUT Transports
GLUT 1
GLUT 2
GLUT 3
GLUT 4
GLUT5
GLUT1
- RBC
- Endothelium of BBB
- mediates basal glucose uptake (low level)
- Takes up glucose regardless of insulin
GLUT2
- Found on cells that regulate glucose
- Hepatocytes, pancreatic beta cells
GUT3
- Neurons
- Placenta
GLUT4
- Skeletal muscle
- Adipose tissue
- INSULIN dependent
GLUT5
- Fructose uptake in GI tract
Gluconeogenesis steps
Pyruvate –> Oxaloacetate
(pyruvate carboxylase w/ biotin)
(+) acetyl-CoA
Oxaloacetated –>Phosphoenol pyruvate
(PEP carboxykinase )
…
Fructose-1,6-BP –> Fructose6P
(Fructose-1,6-bisphosphatase)
RL
(+) ATP
(-) AMP, Fructose 2,6 BP
Glucose 6 phosphate –> Glucose
(Glucose-6-phosphatase)
Rate limiting enzymes
1) De novo pyrimidine synthesis
2) De novo purine synthesis
3) Glycolysis
4) Gluconeogenesis
5) Glycogen synthesis
6) Glycogenolysis
7) TCA cycle
8) Hexose monophosphate shunt
1) carbamoyl phosphate synthetase-2
2) glutamine PRPP amidotransferase
3) Phosphofructokinase -1
4) Fructose-1,6- bisphosphatase
5) Glycogen synthase
6) Glycogen phosphorylase
7) isocitrate dehydrogenase
8) glucose-6-phosphate dehydrogenase
What irreversible enzymes are involved in gluconeogenesis
Pyruvate carboxylase w/ biotin
PEP carboxykinase
Fructose-1,6- bisphosphatase
Glucose-6- phosphatase
RL step of gluconeogenesis
Fructose-1,6- bisphosphatase
Order molecules based on energy the contain
Pyruvate Adenosine monphosphate Glucose Adenosine Adenosine triphsphate
Glucose > pyruvate > ATP > AMP > adenosine
Flow of aqueous humor
Formed in capillary bed of ciliary body
- -> posterior chamber
- -> flows between angle formed by lens and iris diaphragm
- -> anterior chamber
–> reabsorbed in canal of schlemm
Glucose -6- phosphate –> glucose
Glucose-6- phosphate
Last step in glycogenolysis and gluconeogenesis
Deficency= Von Gierke
Glycogenolysis
To break alpha-1,4 glycosidic linkage need
To break alpha- 1,6 glycosidic linkage need
alpha-1,4= glycogen phosphorylase (RL)
alpha-1,6= alpha 1,6 glucosidase (aka debraching enzyme)
- two functions
- take 3 of last 4 glucose and move to end of other branch (transferase)
- remove last glucose (alpha 1,6 glucosidase)
Epinephrine effect of glycogen regulation
Beta adrenergic receptor stimulate adenylyl cyclase –>
Glycogen phosphorylase –>
Glycogenolysis
Glycogen synthase
- pathway
- regulated by
Glucose 1 phospahte –> glycogen
Glycogen synthesis
(+) insulin
Glycogen phosphorylase
- pathway
- regulated by
Glycogenolysis
Glycogen –> Glucose -1- phosphate
(+) glucagon
(+) Epinephrine
(+) cAMP
Von Gierke
Lack of glucose-6-phosphatase
Accumulation of Glucose-6-phosphate in liver
Hepatomegaly, Hypoglycemia
Hyperlipidemia, Hyperuricemia (fat/protein catabolism)
- cant get free glucose have to get energy from fats and proteins
Von GEEK disease
- Fat
- No Muscle (hyperuricemia)
- Fatty liver
Cori Disease
Defect in Debranching enzyme (alpha-1,6- glycosidic linkage)
Same symptoms as Von Gierke
Only different is abnormal glycogen structure
Milder hypoglycemia
Hepatomegaly
No elevation in lactate levels
No elevation in uric acid
Cori disease= coral reef
McArdle disease
Deficiency in glycogen phosphorylase
Deficiency in Muscle
McArdle= Muscle
Muscle cramps on exertion
Myoglobinuria
Hypoglycemia on exertion
Osmotic pressure from glycogen draws water into cells
Cell lyses –> myoglobin into serum
Rhabdomyolysis
- -> Myoglobin in blood to kidney
- -> Myoglobinuria
- -> Renal failure
Pompe disease
Deficiency of alpha-1,4, glucosidase in LYSOSOMES
Infantile form (severe)
- severe muscle weakness
- CARDIOMEGALY and heart failure
- Only live 1 year
Adult form
- No cardiac involvement
- Gradual onset of skeletal muscle weakness
- Diaphragm weakness
- Respiratory failure
POMPE volcano= build up in volcano, cardiomegaly, explodes
A 2-year-old child with failure to thrive since infancy
now exhibits a seizure. Physical examination shows hepatomegaly
and ecchymoses of the skin. Laboratory studies show
a blood glucose level of 31 mg/dL. A liver biopsy specimen
shows cells filled with clear vacuoles that stain positive for
glycogen. Which of the following conditions is most likely to
produce these findings?
A Hurler syndrome
B McArdle disease
C Pompe disease
D Tay-Sachs disease
E Von Gierke disease
E. Von Gierke
Def glucose-6-phosphatase
A 25-year-old woman stops going to her aerobic exercise
class because of severe muscle cramps that have occurred
during every session for the past 2 months. Four hours after
each session, she notices that her urine is a brown color. On
physical examination, she has normal muscle development
and strength. An inherited defect in which of the following
substances is most likely to explain her findings?
A Dystrophin
B Fibrillin
C Glucose-6-phosphatase
D Lysosomal glucosidase
E Muscle phosphorylase
F Spectrin
E. Muscle phosphorylase
McArdle
A 6-month-old male infant has failure to thrive and
abdominal enlargement. His parents are concerned that
he has shown minimal movement since birth. On physical
examination, the infant has marked muscle weakness and
hepatosplenomegaly. A chest radiograph shows marked
cardiomegaly. He dies of congestive heart failure at age 19 months. The microscopic appearance of myocardial fibers at autopsy is shown in the figure. A deficiency of which of the
following enzymes is most likely to be present in this infant?
A Glucocerebrosidase
B Glucose-6-phosphatase
C Hexosaminidase A
D Homogentisic acid oxidase
E Lysosomal glucosidase
F Sphingomyelinase
E. Lysosomal glucosidase
Pompe
An 8-month-old boy is brought to the pediatrician by his parents because he has recently lost
the ability to crawl or hold his toys. On examination
the patient is tachypneic and breathing with considerable effort; the liver is palpable
fi ve fi ngerwidths below the right costal margin.
X-ray of the chest reveals cardiomegaly. He has
a diffi cult time sitting upright and cannot squeeze the physician’s fi ngers or the ring of
his pacifi er with any noticeable force. Despite
a number of interventions, the child’s symptoms
continue to worsen until his death 2 weeks later. On autopsy, it is likely that this patient’s
cells will contain an accumulation of which of the following substances?
(A) Glucose
(B) Glycogen
(C) Oxaloacetate
(D) Pyruvate
(E) Urea
B. Glycogen
Pompe disease
A 14-year-old high school freshman presents to
her family doctor for a sports physical. She has
not played organized sports in the past but is in
good physical shape. She mentions that she experienced
severe leg cramps after trying out for
the soccer team last week. The night after the
tryouts, she noticed that her urine had a reddish
tinge. She has no other medical complaints.
Her physician orders an ischemic forearm
exercise test, which reveals no increase in
venous lactate. Which of the following enzymes
is most likely defi cient in this patient?
(A) Cystathionine synthase
(B) Glucose-6-phosphatase
(C) α-1,6-Glucosidase
(D) Glycogen phosphorylase
(E) Lysosomal α−1,4-glucosidase
D. Glycogen phosphorylase
McArdle’s disease
What glycogen storage disease matches
1) Glycogen phosphorylase deficiency
2) Glucose-6-phosphatase deficiency
3) Lactic acidosis, hyperlipidemia, hyperuricemia (gout)
4) Alpha -1,6- glucosidase deficiency
5) alpha-1,4- glucosidase deficiency
6) Cardiomegaly
7) Diaphragm weakness leading to respiratory failure
8) Increased glycogen in liver, severe fasting hypoglycemia
9) Hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)
10) Painful muscle cramps, myoglobinuria with strenuous exercise
11) Severe hepatosplenomegaly, enlarged kidneys
1) McArdle
2) Von Gierke
3) Von Gierke
4) Cori disease
5) Pompe
6) Pompe
7) Pompe
8) Von Gierke
9) Cori
10) McArdle
11) Von Gierke
What is the landmark for a pudendal nerve lbock
Palpate for ischial spine
Which enzyme catalyzes the RL step in carbohydrate digestion
Oligosaccharide hydrolases (at intestinal brush border)
What vitamin deficiency results from Hartnup disease?
Deficiency tryptophan –> Niacin deficiency (vit B3)
Pellagra
Electron transport chain steps
Energy required
steps inhibited by
1) NADH reductase
(NADH –> NAD)
(Needs 2.5 ATP)
(-) Amytal
(-) Rotenone
(-) MPP
2) Succinate dehydrogenase w/ Coenzyme Q
(Succinate –> fumarate)
(Needs FADH2, 1.5 ATP)
3) Cytochrome b + c1
(-) antimycin A
4) Cytochrome a +a3
(1/2 O2 +2H –> H2O)
(-) CN
(-) N3 -
(-) CO
(-) H2S
5) ATPase
(ADP + Pi –> ATP)
(-) Oligomycin A
Cofactors for Pyruvate Dehydrogenase
Pyruvate –> acetyl-CoA
"TLC For Nobody" Thiamine pyrophosphate (vit B1) Lipoid acid Coenzyme A (vit B5) FAD- Vit B2 Nad- Vit B3
Garlic breath
Vomiting
Rice water stool
Arsenic exposure
Inhibits lipoic acid
No acetyl-CoA for TCA cycle
Pyruvate dehydrogenase deficiency
Cant make acetyl CoA
Back up of pyruvate
- -> Lactate (Lactic acidosis)
- -> Alanine (neurologic defects)
X linked
Arsenic exposure
B vitamin deficiency
TCA cycle main points
Acetyl-CoA –> citrate
(Citrate synthase)
Isocitrate –> alpha ketoglutarate
(isocitrate dehydrogenase)
(NADH + CO2)
RL
a-ketoglutarate –> succinyl-CoA
(a-ketoglutarate dehydrogenase)
(NADH + Co2)
Highly regulated, needs all cofactors as pyruvate dehydrognase
"TLC For Nobody" Thiamine pyrophosphate (vit B1) Lipoid acid Coenzyme A (vit B5) FAD- Vit B2 Nad- Vit B3
Uncoupling agents on Electron transport chain
Uncouples the electron transport chain from ATPase, so it increases the permeability of inner mitochondria membrane to hydrogen ions, hydrogen ions can leak back in (wasted as heat)
Thermogenin (brown fat, hybernation)
High dose aspirin
2,4-dinitrophenol (2,4-DNP)
What four end products can be made from pyruvate
Oxaloacetate
(Pyruvate carboxylase)
Acetyl-CoA
(pyruvate dehydrogenase)
Lactate
( Lactae dehydrogenase)
Alanine
(Alanine Transaminase)
What four B vitamins are needed to make cofactors for pyruvate dehydrogenase
B1 (thiamine)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenic acid)
plus lipoic acid
Which TCA cycle enzyme requires the same cofactors as pyruvate dehydrogenase
alpha ketoglutarate dehydrogenase
What cofactor is required by all transaminases
Pyridoxal phospahte (derivative of vitamin B6)
Two main nitrogen transporters in blood
Alanine
Glutamine
Oxidative burst pathway
O2 –> O2 (-) superoxide ion
(NADPH oxidase)
O2 (-) –> H2O2 hydrogen peroxide
(Superoxide dismutase)
H2O2 –> (+ Cl) –> HOCl hypochlorous acid
(Myeloperoxidase)
Steps to neutralize H2O2
1) React w/ reduced glutathione (antioxidant)
–> glutathione disulfide + H2O
[Glutathione peroxidase]
2) Glutathione disulfide –> GSH
(Need NADPH)
–> GSH + NADP+
[Glutathione peroxidase]
3) NADP+ –> NADPH
(Need G6P)
–> NADPH + 6PG
[ Glucose-6-phosphate dehydrogenase]
Deficiency in G6PD –>
What substances can cause
Decrease in NADPH
Decrease in GSH
Cant neutralize H2O2
"Spleen Purges Nasty Inclusions From Damaged Cells" Sulfonamides Primaquine Nitrofurantoin Isoniazid Fava beans Dapsone Chloroquine
Hemolytic anemia
Bit cells
G6PD deficiency
X linked
Build up of fructose in urine
Asymptomatic
Essential fructosuria
Deficency of fructokinase
Hypoglycemic Vomiting Hepatomegaly Jaundice Elevated Fructose-1-P
Fructose intolerance
Deficiency of aldolase B
Infantile cataracts
galactosuria
galactosemia
Galactokinse deficiency
Deficiency of galactokinase
Accumulation of galactitol
A 3-month-old infant presents with failure to thrive, poor feeding, and lethargy. A physical
examination reveals an enlarged liver and jaundice. Laboratory analysis reveals an elevated
blood galactitol level and increased urinary reducing
substance. Which of the following could correctly describe the levels of intermediates of galactose metabolism in this patient?
(A) Decreased galactose
(B) Decreased uridine diphosphoglucose
(C) Elevated glucose-1-phosphate
(D) Increased galactose-1-phosphate
(E) Increased glycogen
D. Increased galactose-1-phosphate
Infantile cataracts Failure ot thrive Jaundice Hepatomegaly Intellectual disability
Classic galactosemia
Deficiency of galactose-1-phosphate uridyltransferase
Excess Galactose-1- phosphate
Excess Galactose
Excess Galactitol
RL step of pentose phosphate pathway
Glucose 60 phosphate dehydrgenase G6PD
Pentose phosphate pathway
what is it used for
pathway
what tissues use it
aka HMP shunt
Provides a source of NADPH from G6P
G6P –>2 NADPH, Ribulose 5P
[ G6PD]
RBCs
Liver
Adrenal cortex
mammary glands (during lactation)
What disorder is caused by a deficiency of each enzyme
1) Galactokinase
2) Aldolase B
3) Lactase
4) Galactose-1- phosphate uridyltransferase
5) Fructokinase
1) Galactokinse deficiency
2) Fructose intolerance
3) Lactose intolerance
4) Galactosemia
5) Essential fructosuria
Ketogenesis RL enzyme
HMG-CoA synthase
Child super skinny arms and legs, proturbarant belly
Kwashiorkor
Protein malnutrition
- Fatty liver disease (cant make ApoB 100)
Edema
Anemia
Skin lesions
Depigmentation
"Flames" Fatty Liver Anemia Malnutrition Edema Skin lesions
Child stick and bones
Marasmus
Total energy malnutritoon (protein, fat, carbohydrates)
Muscle wasting
Subcutaneous fat loss
Lipid transport pathway
1) Dietary fat broken down
[ Pancreatic lipase]
2) Fat particles absorbed by enterocytes an dpacked into chylomicrons
3) Chylomicrons released with help of Apo-B-48
- W/O = abetalipoprotinemia
4) Chylomicrons pass cells that draw free fatty acids off
[ Lipoprotein Lipase]
5) End up w/ chylomicron remnant –> Liver
6) Liver synthesizes VLDL from remnant
7) VLDL secreted into circulation with help of Apo-B- 100
8) Free fatty acids pulled off VLDL, VLDL becomes IDL
9a) IDL reabsorbed by liver
9b) IDL hydrolyzed further to become LDL
[ Hepatic lipase]
10) LDL reabsorbed by liver or other cells, absorbed by endocytosis by LDL receptor
Apo Proteins
1) Apo-B-48
2) Apo-B-100
3) ApoE
4) ApoA-I
5) ApoC-II
1) Helps release of chylomicrons from enterocytes
- Without you get abetalipoprotinemia
2) Helps VLDL secretion into circulation from liver
3) Mediates extra remnant uptake
4) Activates LCAT, found on HDL
5) Cofactor for lipoprotein lipase
HDL pathway
1) HDL produced by liver contains Apo-A-I
2) Has increased protein low TG = Nacent HDL
3) Takes up cholesterol
[Lecithin-cholesterol acyltransferase (LCT)]
4) Now HDL-2
Exchanges cholesterol esters for TG with other lipoproteins
[Cholesterol ester transfer protein (CETP)]
5) HDL full
a. Hydrolyzed by Hepatic lipase
b. Travels back to liver, Scavenger receptor B1 (SRB1) pulls of cholesterol esters
Fatty acid metabolism
- precursor molecule
- location
- RL enzymes
Precursor: acetyl-CoA
Laction: cytoplasm of hepatocytes
RL: Acetyl-CoA carboxylase
Fatty acid degradation
- Location
- RL
- Two outcomes
Mitochondria
Carnitine acyltransferase 1
(carnitine palmitoyltransferase 1)
Build up of ketones or
Move into TCA cycle
Weakness
Hypotonia
Hypoketotic hypogycemia
Deficiency of carnitine acyltransferase 1
Accumulation of LCFA into cytopasm
- cant transfer to mitochondria
Abetalipoproteinemia
- ineritence
- deficency
- mutation
- lipoproteins
- signs
- intestinal biopsy
- peripheral smear
AR
Decrease ApoB-48 and ApoB-100
Mutation MTP gene
Decrease chylomicron adn VLDL synthesis and secretion
Steatorrhea
Ataxia
Night blindness
Enterocytes swollen with TGs
Acanthocytosis of RBC
- Misshaped and spiky
Type I hyperchylomicroenemia
- inheritence
- deficiency
- lipoproteins
- signs
- extra
AR
Lipoprotein lipase deficiency or defective ApoC-11
Increase chylomicrons, TG and cholesterol
Pancreatitis
Hepatosplenomegaly
Pruritic xanthomas
No risk of atherosclerosis
Type IIa familial hypercholesterolemia
- inheritence
- defect
- lipoproteins
- signs
AD
Absent of LDL receptor
Elevated LDL in blood
Tendinous xanthomas (achilles tendon)
Corneal arcus
Accelerated atherosclerosis
MI in 20s
Type IV hypertriglyceridemia
- inheritence
- defect
- lipoproteins
- signs
AD
Overproduction of VLDL
High level of TG
Pancreatitis
A 30-year-old man is diagnosed with type I familial
dyslipidemia. He has had recent laboratory
studies showing elevated triglycerides and
normal cholesterol levels. Which of the following
explains the pathophysiology of this disease?
(A) Apolipoprotein E defi ciency
(B) LDL cholesterol receptor defi ciency
(C) Lipoprotein lipase defi ciency
(D) VLDL cholesterol clearance defi ciency
(E) VLDL cholesterol overproduction
C. Lipoprotein lipase deficiency
Type I dyslipidemia
Which apolipoprotein
1) Activates LCAT
2) Mediates chylomicron secretion
3) Mediates VLDL secretion
4) Cofactor for lipoprotein lipase
5) Mediates uptaek of remnant particles
1) ApoA-1
2) ApoB-48
3) ApoB-100
4) ApoC-11
5) ApoE
What is the rate limiting enzyme for each pathway
1) Fatty acid synthesis
B) Beta oxidation of FA
3) ketone body synthesis
4) Cholesterol synthesis
1) Acetyl-CoA carboxylase
2) Carnithine acyltransferase I
3) HMG CoA synthase
3) HMG CoA reductase
Essential amino acids
"Private (PVT) TIM HaLL" Phenylalanine Valine Threonine Tryptophan Isoleucine Methionine Histidine Leucine Lysine
Basic charged amino acids
Lysine
Argine
Histidine (no charge)
Acidic amino acids
Aspartate and glutamate
negatively charged
Phenylalanine breakdown
1) Phenylalanine –> Tyrosine
(BH4)
[Phenylalanine hydroxylase ]
(-) def –> PKU
2) Tyrosine –> DOPA
(BH4)
[Tyrosine hydroxylase]
(-) def –> parkinson, albinism
3)DOPA –> Dopamine
(Vit B6)
[Dopa decarboxylase
(-) inhibited by carbadopa to tx parkinsons
4) Dopamine –> NE
(Vit C)
[DOPA beta-hydroxylase]
5) NE –> Epi
(SAM)
(+) cortisol
PKU
Deficiency of phenylalanine hydroxylase
Deficiency BH4
Musty odor
Intellectual disability
Light skin
Seizure
An 18-month-old, light-skinned African American child
has a developmental delay characterized by mental retardation and inability to walk. The child’s urine has a distinctly
“mousy” odor. On physical examination, there is no lymphadenopathy
or hepatosplenomegaly. Laboratory studies show
hemoglobin, 14 g/dL; platelet count, 302,700/mm3; WBC
count, 7550/mm3; glucose, 80 mg/dL; total protein, 7.1 g/dL;
albumin, 5 g/dL; and creatinine, 0.5 mg/dL. A mutation involving a gene that encodes which of the following enzymes is
most likely to be present in this child?
A Adenosine deaminase
B α1-Antitrypsin
C Galactose-1-phosphate uridyltransferase
D Glucose-6-phosphatase
E Lysosomal acid maltase
F Phenylalanine hydroxylase
G Sphingomyelinase
F. PKU
A woman gives birth to a full term baby. Upon delivery, the baby is small and has a musty odor. Upon questioning the woman says that she did not smoke or drink alcohol during the pregnancy, and she only drinks diet soda and water. Which of the following amino acids is most likely to be deficient in the newborn? (A) Alanine (B) Cysteine (C) Glutamine (D) Phenylalanine (E) Proline (F) Serine (G) Tyrosine
G. Tyrosine
PKU
Deficency of DOPA beta hydroxylase
Excess dopamine Deficiency NE and Epi Nasal congestion Ptosis Orthostatic hypotension
Precursor for
1) Arginine
2) Tryptophan
3) Histidine
4) Glutamate
5) Glycine
1) Arginine –>
Creatine
Urea
Nitric oxide
2) Tryptophan
Niacin –> NAD/NADP (req B6)
Serotonin –> Melatonin
3) Histidine –>
Histamine (req B6)
4) Glutamate –>
GABA (Req B6)
Glutathione
5) Glycine –>
Porphyrin (Req B6) –> Heme
Deficency of Vit B6 –>
Lack of inhibition
–> seizures
RL enzyme of urea cycle
Carbamoyl phosphate 1 (CPS-1)
Mitochondria
Urea cycle
CPS-1 in mitochondria
RL step
Ornithine transcarbamylase
- carbamoyl phosphate –> citrulline
Ornithine Transcarbamylase deficiency
Most common urea cycle disorder
X linked
Cant undergo urea cycle
- build up nitrogen and ammonia
Excess carbamoyl phosphate
–> orotic acid
Orotic acid in blood and urine
Decreased VUN
Hyperammonemia
Child Slurring speech Vomiting Cerebral edema Blurring vision Hepatoencephalopathy
A 9-month-old boy is brought to the emergency
department after his mother is unable to rouse
him. His past medical history is signifi cant for
the onset of seizures at the age of 4 months and
for a delay in reaching developmental milestones.
On examination, the patient is found to
have poor muscle tone and an enlarged liver.
Laboratory studies show a blood urea nitrogen
level of 3.2 mg/dL, a creatinine level of 0.4 mg/
dL, and a serum ammonia level of 300 mg/dL.
A plasma amino acid analysis fails to detect citrulline,
while his urinary orotic acid level is increased.
This patient suffers from a defi ciency
of which of the following enzymes?
(A) Argininosuccinate lyase
(B) Carbamoyl phosphate synthetase II
(C) Glutamate dehydrogenase
(D) Ornithine transcarbamoylase
D. Ornithine trasncarbamoylase
What does each cell secrete
1) G cells
2) I cells
3) S cells
4) D cells
5) Parietal cells
1) G cells
- Gastrin
2) I cells
- CCK
3) S cells
- secretin
4) D cells
- Somatostatin
5) Parietal cells
- Gastric acid & intrinsic factor
A 35-year-old man presents to the physician with arthritic pain in both knees along with back pain. He states that the pain has been
present for months. In an effort to obtain relief, he has taken only aspirin, but this has been of
little benefit. The patient is afebrile, and his slightly swollen knee joints are neither hot nor tender to palpation; however, the pain does restrict his motion. The cartilage of his ears appears slightly darker than normal. No tophi are
present. A urine specimen is taken for analysis of uric acid content and turns black in the laboratory
while standing. A defect in which of
the following is the most likely underlying cause of the patient’s condition?
(A) Galactokinase
(B) Homogentisic acid oxidase
(C) α-Ketoacid dehydrogenase
(D) Orotate phosphoribosyltransferase
(E) Phenylalanine hydroxylase
B. Homogentisate Oxidase
Alkaptonuria
- Deficiency of homogentisate oxidase
AR
Build up homoentic acid in urine
Darkens CT and urine
Arthralgias
A 6-year-old girl is found to be nearsighted during
a vision screening at school, and the school nurse tells the parents the child should be fitted
for corrective lenses. Her mother is upset because her daughter is already much taller than her classmates, has an awkward gait, and was recently diagnosed with scoliosis. She is afraid that the glasses will only add to her
daughter’s problems at school, where her classmates frequently tease her. When the ophthalmologist observes that the patient’s right lens is dislocated, he suspects that her symptoms are in fact related to an enzyme deficiency. As a result of this deficiency, which of the following amino acids is essential in this patient’s diet?
(A) Cysteine
(B) Lysine
(C) Methionine
(D) Tryptophan
A. Cysteine
Homocystinuria
Homocysteine –> cystathionine
- Deficency of cystathionine synthase
- decreased affinity of cystathionine synthase for Bit B6
Homocysteine –> Methionine
- Deficiency of homocysteine methyltransferase
- Deficiency of Vit B12
Intellectual disability Tall stature Osteoporosis Kyphosis Atherosclerosis Subluxation of lens (down ward)
Homocystinuria
The mother of a 16-month-old girl is concerned because she noticed that her daughter
became lethargic and irritable 2 days after an ear infection. The mother recalls periodically
noticing sweet-smelling urine in her child’s diaper but that otherwise her development has
been normal. An inability to metabolize which of the following would explain these symptoms?
(A) Glucosylceramide
(B) Histidine
(C) Phenylalanine
(D) Sphingomyelin
(E) Tyrosine
(F) Valine
F. Valine
Maple syrup urine disease
Urine smells like maple syrup (sweet)
Deficiency of branched chain alpha-ketoacid dehydrogenase complex
- build up of branched chain amino acids
“I LoVe Maple Syrup”
- Isoleucine
- Leucine
- Vaine
Intellectual deficiencies
Severe CNS defects
High mortality
39-year-old woman presents to the physician with complaints of itchy skin and diarrhea. On
examination, the patient appears slightly confused and is having trouble remembering what she did earlier in the day. A physical examination shows that the patient has a large, deeply pigmented tongue with thickened papillae. On
further questioning, it is discovered that the patient
has been taking isoniazid for suspected tuberculosis infection. Which of the following
supplements should this patient take?
(A) Ascorbic acid
(B) Biotin
(C) Folic acid
(D) Niacin
(E) Ribofl avin
(F) Thiamine
(G) Vitamin D
D. Niacin
Patient has Pellagra
Patient presents to office with itchy skin and diarrhea. She is confused to the day. Examination shows an large deeply pigmented tongue.
Genetic cause
Hartnup disease
AR
Defective neutral aminoacid transporter
Tryptophan not absorbed
No Niacin
Pellagra
What goes with there
1) homogentisic acid oxidase deficency
2) Alpha ketoacid dehydrogenase def
3) Tyrosine def
4) Decreased tryptophan
5) Phenylalanine hydroxylase def
6) Cystathionine synthase def
7) B6 def
8) COLA def
9) Tetrahydrobiopterin def
10) Decreased Niacin
11) Sweet smelling urine
12) Musty smell
13) Dark urine
14) Increased skin cancer
15) Lens dislocation
16) Cystine stones
1) Alkaptonuria
2) Maple syrup urine
3) Albinism
4) Hartnup
5) PKU
6) Homocystinuria
7) Homocystinuria
8) Cystinuria
9) PKU
10) Hartnup
11) Maple syrup urine
12) pKU
13) Alkaptonuria
14) Albinism
15) Homocystinuria
16) Cystinuria
Ferritin
Storage form of iron
Acute phase reactant
- Alot of inflammation release ferritin to bind up iron so bacteria cant use it
Transferrin
Transport ferric molecules
Increased in iron deficiency
Zinc
- use
- deficency
Healing
Imune system
Carbonic anhydrase
- CO2 –> bicarb
Delayed wound healing Decrase body and facial hair Hypogonadism Decreased ability to smell Decreased taste Rash around eyes, mouth, nose, anus Impaired night vision Infertility
Lead poisoning
Decreased IQ Hearing problems Growth impairment Wrist/ foot drop Lead lines Anemia
Basophilic stippling
Tx: Chelating agent
- succimer or EDTA
Pediatric
- dimercaprol + succimer
Basophilic stippling
Ringed sideroblasts
Lead poisoning
Mecury poisoning affects
Key feature
Kidneys and brain
Acrodynia: peeling of fingertips
Acrodynia
Peeling of fingertips
Kawaski disease
Mercury posoning
Fat soluble vitamins
Absrobed in
Vit AdEK
ileum
Sarcoidosis and vit D
Increases coversion of 25-OH Vit D –> 1,25 (OH2) Vit D
Hypercalcemia
Vit K does post-translational modification of what clotting factors
“diSCo started in 1972”
Protein S
Protein C
Clotting factor 10, 9, 7 and 2
Vit E
- fxn
- deficency
Antioxidant
Prevents free radials on RBCs
Deficiency - hemolytic anemia - Spinocerebellar degeneration (ataxia) - peripheral neuropathy - proximal muscle weakness
Vit C
- fxn
- deficiency
Hydroxyaltion of prolyl and lysyl residues of collagen
Required for dopamine –> NE
[Dopamine beta hydroxylase]
Antioxidant
Iron absorption in gut
Deficiency
- cant make collagen
- scurvy
Differential diagnosis for eosinophilia
CANADA-P
Collagen vascular disease Atopic disease Neoplasma Adison disease Drugs Acute interstitial nephritis Parasites
Vit B1
Thiamine
Deficiency
- Wernicke-Korsakoff
- Beriberi
A 9-month-old infant has failure to thrive following a
premature birth with low birth weight. The infant has chronic
cholestatic hepatobiliary disease. The infant is now at the
40th percentile for height and the 25th percentile for weight creased
vibration and pain sensation, muscle weakness, and
abnormalities of eye movement. Laboratory studies show hemoglobin,
9.2 g/dL; hematocrit, 27.6%; MCV, 86 μm3; platelet
count, 208,000/mm3; WBC count, 6080/mm3; total protein,
6.4 g/dL; albumin, 3.4 g/dL; glucose, 70 mg/dL; and creatinine,
0.3 mg/dL. A deficiency of which of the following vitamins
is most likely to contribute to these findings?
A Vitamin A
B Vitamin B1
C Vitamin B3
D Vitamin B12
E Vitamin C
F Vitamin E
G Vitamin K
F. Vitamin E
The symptoms of thiamine defi ciency were
fi rst described over 4,000 years ago. In adults,
these symptoms commonly include polyneuropathy
of the distal extremities, resulting in
paresthesias and motor dysfunction. In addition
to neuropathy, how else can isolated thiamine
defi ciency present in adults?
(A) Chronic infection
(B) Convulsions, hyperirritability, and jaundice
(C) Excessive diarrhea, dermatitis, and dementia
(D) Kidney failure
(E) Peripheral edema and congestive heart
failure
(E) Peripheral edema and congestive heart
failure
BeriBeri
Beriberi
Dry vs wet
Thiamine deficiency
Dry Beriberi - peripheral neuropathy (toe drop, wrist drop, foot drop) - Muscle weakness - Hyporeflexia or areflexia
Wet Beriberi
- Peripheral vasodilation
- High output heart failure
- peripheral edema
- cardiomegaly
Vit B2
Riboflavin
FMN and FAD
Cofactors for redox reactions
Deficiency
- Dermatitis
- Cheilosis
- Glossitis
Vit B3
Niacin
NAD and NADP
Redox reactions
Derived from Tryptophan
Deficiency
- pellagra
Vit B5
Pantothenate
Component of coenzyma A
Fxn in transfer of acyl groups
Deficiency
-dermatitis
Enteritis
-alopecia-adrenal insufficiency
Vit B6
pyridoxine
coenzyme for transaminations and deaminations
Conversion of AA precursors
Deficiency - cheilosis -glossitis - convulsions ** (B6 essential for GABA) -Peripheral neuropathy
Vit B7
Biotin
Apoenzyme for caboxylation rxns
Vit B9
Folic acid
Synthesis and repair of DNA
Rapid cell division and growth
Tetrahydrofolate
Deficiency
- Meds (phenytonin, sulfonamides, TMP, MTX)
Neural tube defect
Megaloblastic anemia
Glossitis
Diarrhea
Depression
Confusion
Megaloblastic anemia
RBC large
Macrocytic anemia
Hypersegmented neutrophils
Folate and B12
Vit B12
Cobalamin
Need Intrinsic factor to be absorbed in duodenum
Cofactor w/ homocysteine methyltransferase –> THF
Deficiency - Anemia Ataxia Paresthesias Memory loss Dementia
Vegetarians
Pernicious anemia
A patient presents with convulsions and irritability, what vitamin deficiency
Vitamin B6
Which vitamin deficiency
1) Peripheral neuropathy, glossitis
2) Neural tube defects
3) Dermatitis, diarrhea, dementia
4) Megaloblastic anemia
5) Pernicious anemia
1) B12, B6
2) Folic acid (B9)
3) B3
4) B12 or folic acid (B9)
5) B12
Tumor markers for pancreatic cancer
CA 19-9
CEA (also elevated in gastric and colon cancer)
Uses cAMP and protein kinase A as secondary messengers
FSH LH ACTH TSH hCG MSH GHRH, CRH PTH, Calcitonin Glucagon V2 Vasopressin receptor
Uses IP3 as second messenger
GnRH
TRH
Oxytocin
V1 vasopressin receptor
Uses tyrosine kinase receptor as second messenger
Growth hormone Prolactin Inulin insulin-like growth factor Platelet derived growth factor Fibroblast growth factor Cytokines
Uses cGMP as secondary messenger
Nitric oxide
Atrial natriuetic peptide
Uses steroid receptors as second messenger
Estrogen, progesterone, testosterone Glucocorticoids Aldosterone Thyroid hormone Vitamin D
What are the two nervous tissue bundles that run through the GI tract and where re they located
Meissner plexus: submucosa
Auerbach’s plexus: between layers of the muscularis propria
What disesases specifically damage tehn aterior horn?
Polio
West nile virus
ALS
Werdnig-Hoffman dis (spinal muscular atrophy)
ACTH is synthesized as part of
Large precursor called POMC
POMC contains
Lipotropin
MSH
beta-endorphin
Somatostatin fxn
Reduces splanchnic blood flow
Reduces GI motility adn GB contraction
Inhibits secretion of most GI hormones
Sheehan syndrome
Postpartum hemorrhage leading to underperfusion of the pituitary
Pituitary necrosis and hypopituitarism
Agalactorrhea
Amonorrhea after delivery
Hypothyroidism
Pituitary
Anterior lobe forms from
- type of cells
Posterior lobe
- forms from
- type of cells
Anterior lobe
- forms from rathke’s pouch
- ectodermal diverticulum
Posterior lobe
- forms from invagination of the hypothalamus
- neuroectoderm
What increases ADH
What decreases ADH
Increase ADH
- Nicotine
- Opiates
Decrease ADH
- Ethanol
Atrial natriuretic factor
- decreased serum osmolarity
What hormones share a common alpha subunit
FSH
LH
TSH
hCG
what do type II pneumocytes need to mature
Cortisol
Adrenal cortex from
Adrenal medull afrom
Cortex= mesoderm
Medulla= ectoderm
Tumor in adrenal medulla of kids
Causes?
Adrenal neuroblastoma
Sustained HTN
Deficiency in 21 alpha hydroxylase
Masculization
Hypotension
Cant make aldosterone or cortisol
Hypotension
Hyponatremia
HYPERkalemia
High 1-OH progesterone
Cortisol deficiency –> increase ACTH, hyperplasia of adrenal glands
Most common
Deficiency in 11b- hydroxylase
Masculization
Hypertension
Build up of 11-deoxycorticosterione
Still have mineralocorticoid properties
Cortisol deficiency –> increase ACTH, hyperplasia of adrenal glands
Deficiency of 17a- hydroxylase
HTN
Ambiguous genitalia
Can only make mineralocorticoids
Salt and H20 retention
Hypokalemia
Cortisol deficiency –> increase ACTH, hyperplasia of adrenal glands
3beta-hydroxysteroid dehydrogenase deficiency
Inability to produce - Glucocorticoids Mineralocorticoids Androgens Estrogens
Excessive sodium
Early death
Ambigous genitalia
Adrenal steroids are made from
Cholesterol
Dexamethasone suppression test, high dose works on
ACTH-producing pituitary tumor
Cortisol effect on bones and immune system
Reduces bone formation –> osteoporosis
Suppress immune system
Waterhouse-Friderichsen syndrome
Acute primary adrenal insufficiency due to adrenal hemorrhage
- Severe meningococcal sepsis
- DIC
Petechial rash
Coagulopathy
Primary adrenal insufficiency deficient in
Tx
Cortisol and aldosterone
Tx: glucocorticoid
Conn syndrome
Aldosterone-secreting adrenal tumor
Hyperaldosteronism
HTN
Hypokalemia
Metabolic alkalosis
Decrease in Renin levels
Hypotension Hyponatremia Hyperkalemia Fatigue Anorexia Weight loss Hyperpigmentation
Primary adrenal insufficiency (addison disease)
A 42-year-old woman has had increasing weakness,
nausea, vomiting, watery diarrhea, and a 5-kg weight loss
over the past 7 months. She has generalized muscle weakness,
muscle wasting, and increased skin pigmentation on physical
examination. After an upper respiratory tract infection lasting
1 week, she develops abdominal pain and faintness and lapses
into a coma. Her temperature is 36.9° C, pulse is 83/min, respirations
are 17/min and shallow, and blood pressure is 80/40
mm Hg. Laboratory findings show Na+, 129 mmol/L; K+, 3.5
mmol/L; Cl−, 95 mmol/L; CO2, 23 mmol/L; glucose, 48 mg/
dL; and creatinine, 0.6 mg/dL. Atrophy of which of the following
tissues is most likely to be present?
A Adrenal cortex
B Hypothalamus
C Islets of Langerhans
D Parafollicular C cells in thyroid
E Pineal gland
F Thyroid epithelium
A. Adrenal cortex
A 55-year-old man has experienced increasing lethargy
for the past 7 months. Physical examination shows hyperpigmentation of the skin. Vital signs include temperature
of 36.9° C, pulse of 70/min, respirations of 14/min, and
blood pressure of 95/65 mm Hg. Laboratory studies include a
serum cortisol level of 3 μg/mL at 8:00 AM with a serum corticotropin
level of 65 pg/mL. Which of the following diseases
most often occurs in patients with this disorder?
A Type 2 diabetes mellitus
B Classic polyarteritis nodosa
C Hashimoto thyroiditis
D Systemic lupus erythematosus
E Ulcerative colitis
C. Hashimoto thyroiditis
Addison disease
A 44-year-old woman has become increasingly listless
and weak and has had chronic diarrhea and a 5-kg weight loss
over the past 7 months. She also notices that her skin seems
darker, although she rarely goes outside because she is too
tired for outdoor activities. On physical examination, she is
afebrile, and her blood pressure is 85/50 mm Hg. A chest radiograph
shows no abnormal findings. Laboratory findings
include serum Na+, 120 mmol/L; K+, 5.1 mmol/L; glucose,
58 mg/dL; urea nitrogen, 18 mg/dL; and creatinine, 0.8 mg/
dL. The serum corticotropin level is 82 pg/mL. Which of the
following is most likely to account for these findings?
A Adenohypophyseal adenoma
B Autoimmune destruction of the adrenals
C Pancreatic neuroendocrine tumor
D Metastatic carcinoma with lung primary
E Neisseria meningitidis infection of the adrenals
F Sarcoidosis of the lung and adrenals
B Autoimmune destruction of the adrenals
30 y.o man undergoing an evaluation for hypertension. Has a history of multiple episodes of hypokalemia. Lab shows a potassium of 3.0 despite replacement and metabolic alkalosis. What is the cause of HTN?
Primary hyperaldosteronism
Which causes of vaginal discharge/ vaginitis are associated iwth a high vaginal pH?
Wjocj are associated iwth a low vaginal pH?
Low vaginal pH
- physiologic dischrage
Candida
High vaginal pH
- gardnerella
Trichomonas
Erythropoietin=secreting tumors
Pheochromocytoma
Renal cell carcinoma
Hemangioblastoma (vascular tumor of CNS)
Hepatocellular carcinoma
Neuroblastoma
- tumor of
- type of cells
- see in
- causes
- associated with
- histology
- tumor marker
Home Wright rosettesTumor of the adrenals
Tumor of sympathetic ganglion cells
Most common tumor of adrenal medulla in children
Mild HTN
N-myc oncogene
Homer Wright rosettes
Bombesin tumor marker
Homer Wright rosettes
Adrenal neuroblastoma
N-myc oncogene
Adrenal neuroblastoma