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.