Last Set 3 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)
PICA
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
Carotid sheath contains (3)
Internal jugular v.
Common carotid A.
Vagus n.
Magnetic gait
Normal pressure hydrocephalus
Wet wacky wobbly
Urinary incontinence
Dementia
Gait disturbances
Jaw muscle pain when chewing
Giant cell arteritis
Temporal arteritis
Headache + Extraocular muscular palsies
Cavernous sinus thrombosis
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
Slow growing brain tumor
Frontal lobe
Perinuclear cytoplasmic clearing
Oligodendroglioma
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
Uvela deviates to right, damage to what 2 things
Left vagus n.
Left nucleus ambiguus
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
Structures in cavernous sinus
Oculomotor Trochlear n. Abducens Opthalmic div V1 Maxillary div V2
Internal carotid A.
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
Pregestational diabetes possible heart defect
Transposition of great vessels
Mean arterial pressure (P) =
MAP = Cardiac output (Q) x Peripheral resistance (R)
P= QxR
MAP= 2/3 diastolic pressure + 1/3 systolic pressure
Liver disease does what to starling forces
Decreases plasma colloid osmotic pressure
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
Inspiration makes what murmur louder
Tricuspid
What murmur is louder with expiration
Mitral
MOA of N-acetylcysteine for acetaminophen overdose
Regenerates glutathione
9;22
cell looks like
CML
Blood smear shows leukocytosis with many immature myeloid cells (horseshoe nucleus)
12;21
B cell- ALL
Anemia
Thrombocytopenia
Lymphoblasts
Basaloid cells with peripheral palisading nuclei
Basal cell carcinoma
Slow growing papules, ulceration or rolled border
Allelic heterogeneity
Multiple genes same phenotype
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
Glucose 6 phosphatase deficiency
Von Gierke disease
Glycogen phosphorylase deficiency
McArdle
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
Cystic fibrosis type of mutation
Frame shift
Stimulates neutrophil migration to sites of inflammation
Leukotriene B4
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
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
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
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
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
Anemia
Hypercoagulability
Pancytopenia
Paroxysmal nocturnal hemoglobinuria (PNH)
Mutation PIGA
Deficiency: glycosylphosphatidylinositol (GPI) anchor
Deficiency: CD55 CD59
Tx Manic depression
Valproic acid
Lithium
Carbamazepine
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
Polyostotic Fibrous dysplasia
associated with
Bone replaced by collagen and fibroblast
Assoc with McCune Albright syn
- Precocious puberty
- Cafe au lait
- Fibrous dysplasia bone
Fibromyalgia
Excess tenderness at 11 of 18 sites
Fatigue
Tx. Pregabalin, milnacipran
cellulitis tx
- description
- organisms
- MRSA
- non-MRSA
Painful tender to touch Rapidly spreads
S. Aureua
S. Pyogenes
Non-MRSA( no abscess)
- oral dicloxacillin, cephalexin
MRSA:
- oral trimethoprim/sulfamethoxazole
- clindamycin
Precocious puberty
Cafe au lait spots
Fibrous dysplasia bone
McCune albright syndrome
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
biopsy shows
Ab against
test
unique feature
[Bullous pemphigoid- Tight raised blister]
- Ab to hemidesmosomes
- Eosinophils within blister
- Negative nikolsky
- no oral lesion
Blister IgA in tips of dermal papillae
Dermatitis herpetiformis
assoc w/ celiac
Pruritic, purple, polygonal papules and plaques
- microscopically see
- assoc with
Lichen planus
Sawtooth pattern at dermal-epidermal junction
Hepatitis C
Erythema nodosum assoc with
Painful raised lesions on shins
Sarcoidosis, histoplasmosis, Tb, leprsy
Erythema multiforme
Target lesions
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
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
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
Amenorrhea
Loss of smell
Kallman syndrome
Defect of X linked KAL chain
Decrease GnRH –> Low LH and FSH
Prostatitis or Epididimitis
- Organism
- Tx
<35: Gonorrhea, Chlamydia
> 35: E coli, klebsiella, serratia, enterobacter, proteus
GC/Chlamydia: Ceftrixone (IM) then doxycycline
Ecoli: Fluoroquinolone
Tx: Fluoroquinolone (levofloxacin), TMP-SMX
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
- looks like
- assoc with (3)
Enlarged nuclei and perinuclear halo
Fried egg
Seminoma
Dysgerminioma
HPV
Rosettes of tumor cells surrounding eosinophilic spaces
Call- Exner body
Granulosa cell tumors
yellow
produce estrogen
Meigs syndrome
Ovarian tumor
Ascites
Pleural effusion
Bloody brown vaginal discharge
- arises from
- metastasizes to
Choriocarcinoma
Complete mole, miscarriage, normal pregnancy, ectopic pregnancy
Lung
Trisomy 21 lab values
Trisomy 18
Trisomy 13
Decrease AFP
Decrease estriol
Increase hCG
Increase inhibin
Decrease AFP
Decrease estriol
Decrease hCG
Decrease hCG, PAPP-A
Kleinfelter labs
Testicular atrophy
Decrease testosterone
Decrease inhibin
Increase FSH
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
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
Facial lesions Hypopigmented ash leaf spots Cortical and retinal hamartomas seizures intellectual diability
Tuberous sclerosis
Mutation of hamartin or tuberin gene
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
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
Large bulky breast tumor
Leaf like projections on histology
Phyllodes tumor
Signet ring cells
ER and PR positive
Breast tumor
LCIS
Heat stable toxin
ETEC
Yersinia enterocolitica
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
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
Immune dysregulation
Polyendocrinopathy (IPEX)
- Type I diabetes
- Thyroiditis
Enteropathy - Severe diarrhea
- Failure to thrive
X linked
Loss FOXP3
Lack TREG
Male infant
Severe chronic diarrhea
Neonatal diabetes or thyroiditis
Eczema
IPEX
Mutation of FOXP3
NK cells activity induced by
IL-12
IL-2
IFN-alpha
IFN-beta
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)
Macrophages secrete
IL-1, IL-6, TNF-alpha (acute phase)
IL-12
Neutrophils chemotactic agents
IL-8
C5a
Leukotriene B 4
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
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
6 month old boy
Recurrent bacterial infections
Low immunoglobulins
- defect
- inheritence
Bruton agammaglobulinemia
Defective tyrosine kinase
X linked
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" 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
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
Large phagosomal vesicles with neutrophils
Chediak=Higashi disease
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
Involuntary flailing of one arm
Hemiballismus
Subthalamic nucleus
Parkinson effect on NT
Loss of dopamine
Huntington effect on NT
Excessive excitation by glutamate –> death of neurons
Increase dopamine
Decrease GABA
Decrease ACh
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
Heteroplasmy
condition of having different mitochondrial genomes
Posterior duodenal wall ulcer erodes into
Gastroduodenal artery
Hepatoduodenal ligament contains
Common bile duct
Hepatic artery
Portal vein
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
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
Corneal clouding coarse facies hepatosplenomegaly skeletal abnormalities restricted joint movement
I cell disease
Deficiency of mannose phosphorylation
No mannose-6-phosphate to target lysosomal proteins
Secreted out of cell instead of into lysosomes
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
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
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
Nystagmus
Ataxia
Encephalopathy
Amnesia
Wernicke-Korsakoff syndrome
Thiamine deficiency (Vit B) - alcoholics
Mamillary body lesion
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
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
Acute otitis externa organisms
S. aureus
Pseudomonas aeruginosa
Acute otitis media organisms
S. pneumonia
Nontypable Haemophilius influenzae
M. Catrrhalis
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
Gastrin secreted by
Secretion stimulated by
G cells of antrum
Phenylalanine
Tryptophan
Calcium
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
5 things
Menetrier disease
Gastric adenocarcinoma
- 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
What enzymes do obligate anaerobes lack
Catalse
Superoxide dismutase
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
Location of absorption
Iron
Folate
Vit B12
Duodenum
Duodenum and jejunum
Terminal ileum
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
Gardner syndrome (4)
Familial adenomatous polyposis
Bone and soft tissue tumors
Lipomas
Retinal hyperplasia
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
Painless jaundice
-markers
Pancreatic adenocarcinoma
CD19-9
CEA
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
(A) Extrahepatic biliary obstruction (B) Glucuronosyltransferase defi ciency (C) Heme oxygenase defi ciency (D) Intrahepatic biliary obstruction (E) Liver cell damage
B. Glucuronosyltransferase deficiency
Gilbert
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
Cirrhosis Diabetes Hyperpigmentation CHF Testicular atrophy
“Bronze diabetes”
Hemochromatosis
INcreased risk of HCC
AR disease
- HFE gene –> makes hepcidin
Increased ferritin
ANA
anti-smooth muscle Ab
Autoimmune hepatitis
Type 1
Anti-liver-kidney microsomal Ab
Anti-liver cytosol antibody
Autoimmune hepatitis
Type 2
Beads on a string
+ pANCA
- due to
- tx
Primary sclerosing cholangitis (PSC)
COncentric fibrosis of bile ducts
liver transplant
- 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 definitive treatment.
Beta 2 stimulation
INcrease radius
Decrease resistance
Defects in DNA mismatch repair
Lynch syndrome
increased risk of hereditary non-polyposis colorectal cancer (HNPCC)
Manic vs hypomanic
Manic
- severe
- 1 week
- May have psychotic features
Hypomanic
- >= 4 consecutive days
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
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
(+) for
synaptophysin
Chromogranin
neuron-specific enolase
Small cell carcinoma of the lung
Carcinoid tumor
What can you suffer from if to quick nitroprusside infusion
tx
cyanide toxicity
tx sulfur
Lethary confusion Persistent atrial fibrillation CHF Nauseas and decreased appetitie, vomiting Vision difficulties
Hyperkalemic
Digoxin toxicity
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
What can not be metabolized to pyruvate and cause more lactic acid if pyruvate dehydrogenase deficiency
Lysine
Leucine
Ketogenic AA
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
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
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
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%
Multiple ulcers
Mucosal erosions
Large cells iwth basophili cintranuclear and intracytoplasmic inclusions
CMV
herpesvirus
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
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
S1Q3T3 ECG
Pulmonary embolism
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)
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
Skin lesion on eyelid
ma
Lipid laden macrophages
Assoc with
Xanthelasma
Associated iwth primary or secondary hyperlipidemias
- Primary biliary cirrhosis
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
p-ANCA
- Ag
- Ab
c-ANCA
- Ag
- Ab
p-ANCA
- Myeloperoxidase (MPO)
- MPO-ANCA
c-ANCA
- Proteinase 3 (PR3)
- PR3-ANCA
Necrotizing vasculitis of lungs kidneys skin
Crescentic GN
Palpable purpura
+ p-ANCA
Doesnt have
Microscopic polyangiitis
No naropharyngeal involvement
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
Cohort study gives
Relative risk
A/A+B) / (C/ C+D
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)
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
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
Muscle biopsy on patient reveals elevated glycogen levels, elevated fructose-6- phosphate, and decreased pyruvate. What enzyme is deficient?
Phosphofructokinase-1 deficiency
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
4
McArdle disease
Deficiency in glycogen phosphorylase
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
Infantile cataracts
galactosuria
galactosemia
Galactokinse deficiency
Deficiency of galactokinase
Accumulation of galactito
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
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
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
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
8
PKU
Deficiency of phenylalanine hydroxylase
Deficiency BH4
Musty odor
Intellectual disability
Light skin
Seizure
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
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 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
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
