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Named crap & other things I keep forgetting Flashcards

1
Q

Osler-Weber-Rendu syndrome

A

AKA hereditary hemorrhagic telangiectasia
AD inheritance
Recurrent epistaxis, Telangiectasias, AVMs, GI bleeding, hematuria

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2
Q

Sturge-Weber syndrome

A

Non-inherited developmental abnormality of neural crest derivatives
Activating mutation of GNAQ
Affects capillaries in unilateral V1/V2 -> Port-wine stain
Episcleral hemangioma -> increase ocular pressure -> glaucoma
Ipsilateral leptomeningeal angioma -> Seizures
Mental retardation
Tram-track calcifications of opposing gyri

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3
Q

Leukocyte adhesion deficiency

A

AR loss of CD18 integrins on leukocytes prevents adhesion/margination in acute inflammation
Delayed separation of umbilical cord
Increased circulating PMNs (can’t stay in reserve in lung circ)
Recurrent bacterial infxns lacking pus

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4
Q

Chediak-Higashi syndrome

A

Microtubule (‘railroad’) defect -> Phagosomes and lysozomes can’t fuse in leukocytes
Increased risk of pyogenic infxns
Neutropenia
Giant granules in leukocytes
Defective primary hemostasis
Albinism from melanocyte dysfxn
Peripheral neuropathy due to axonal trafficking dysfxn

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5
Q

Chronic granulomatous disease

A

X-linked or AR NADPH oxidase defect -> Poor O2-dependent killing
Catalase-positive organism infxns (Those that destroy H2O2 that they create to block HOCl formation by MPO = Staph aureus, Pseudomonas cepacia, S marcescens, Nocardia, Aspergillus)
NBT stays colorless on testing (Turns blue if body can produce superoxide. Will turn blue in MPO deficiency)

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6
Q

MPO deficiency

A

Decreased O2-dependent killing
Increased risk of Candida infxns
NBT turns blue on testing (Superoxide production by NADPH oxidase intact)

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7
Q

SCID causes and signs

A

Cytokine receptor defects
Adenosine deaminase deficiency -> Buildup of toxic metabolites in lymphocytes
MHC II deficiency -> Defective fxn of B and CD4+ T cells

Susceptible to all infxns. Need sterile isolation. No live vaccines.
Bone marrow transplant (No rejection possible)

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8
Q

X-linked agammaglobulinemia

A

X-linked BTK (Bruton Tyrosine Kinase) deficiency
Agammaglobulinemia (No Ig)
Dysfxn B maturation

Bacterial, enterovirus, and Giardia infxns after 6m of life
No live vaccines

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9
Q

DiGeorge syndrome

A

Aplasia of pharyngeal arches 3, 4 due to 22q11 microdeletion
Hypocalcemia from lack of parathyroids
T deficiency from thymic aplasia
Embryonic cardiac defects

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10
Q

IgA deficiency

A

Mucosal infxns

Assoc w/ Celiac disease, but otherwise fairly benign

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11
Q

Hyper-IgM syndrome

A 
Mutated CD40L on T or CD40 on B
Can't class switch -> High IgM; Low IgG, A, E
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12
Q

Wiskott-Aldrich syndrome

A

X-linked bleeding, rash, recurrent infxns
Mutation in WAS -> Immune cells can’t reorganize actin cytoskeleton (esp. T cells, platelets)
WATER = Wiskott-Aldrich: TTP, Eczema, Recurrent infections

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13
Q

Complement deficiency

A

Recurrent Neisseria infxns from C5-9 deficiency

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14
Q

C1 inhibitor deficiency

A

Hereditary angioedema, esp periorbital and mucosal

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15
Q

Autoimmune polyendocrine syndrome

A

AIRE mutation leads to decreased expression on medullary epithelial cells in thymus of self-Ags -> Increased autoimmune response targeting endocrine glands

Hypoparathyroidism
Adrenal failure
Skin infxns

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16
Q

Autoimmune lymphocytic proliferation syndrome

A

Mutation causes loss of FAS or FASL -> Self-reactive T cells that should undergo apoptosis cannot
IgG against blood -> Cytopenias
Lymphocytic proliferation -> Generalized LAD
HSM
Lymphoma

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17
Q

Relationship of half-life, volume of distribution, and clearance

A

t(1/2) = (0.7 * Vd) / Cl

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18
Q

Li-Fraumeni syndrome

A

Germline p53 mutation -> Various cancer types at a young age

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19
Q

Tuberous sclerosis

A

AD neurocutaneous disorder w/ incomplete penetrance and variable expression
Numerous benign hamartomas = CNS (mental retardation, seizures), skin (angiofibromas; Shagreen patches = thick, leathery, dimpled skin; Ash-leaf spots lacking melanin), cardiac rhabdomyomas, mitral regurgitation, renal angiomyolipomas

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20
Q

von Hippel-Lindau disease

A

Hemangioblastomas in CNS (retina, brain stem, cerebellum, spine)
Angiomatosis of skin, mucosa, organs
Bilateral RCC, Pheochromocytomas

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21
Q

Cluster headaches

A

‘Cluster of recurring attacks’
Unilateral periorbital pain, lacrimation, rhinorrhea w/ 15m-3h repetitive attacks
More common in MALES
Treat w/ sumatriptan

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22
Q

Tension headaches

A

‘Tension around whole head’
BILATERAL steady pain lasting 4-6h
Treat w/ analgesics, NSAIDs, APAP; Amitriptyline for chronic pain

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23
Q

Migraine headaches

A

Unilateral pulsating pain with nausea, photophobia, phonophobia, potentially preceding AURA, w/ 4-72h duration
Due to irritation of CN V, meninges, blood vessels -> Release of substance P and CGRP
Abortive therapy = triptans, NSAIDs
Prophylaxis = Propranolol, topiramate, Ca-channel blockers, amitriptyline

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24
Q

Charcot-Marie-Tooth disease

A

AKA Hereditary motor and sensory neuropathy
AD defective production of myelin sheath proteins in periphery
Associated w/ scoliosis and high/flat foot arches
No hypertrophic cardiomyopathy (vs. Friedrich ataxia)

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25
Q

Metachromatic leukodystrophy

A

AR lysosomal storage disease due to arylsulfatase A deficiency -> Sulfatide buildup -> Impaired production and destruction of myelin sheath in periphery and CNS -> Ataxia, Dementia

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26
Q

Progressive multifocal leukoencephalopathy

A

CNS demyelination from ODC destruction due to JC virus reactivation in AIDS patients

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27
Q

Adrenoleukodystrophy

A

XR impaired metabolism of very-long-chain fatty acids -> Excessive buildup in CNS, adrenals, testes -> Adrenal gland crisis, Coma, Death

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28
Q

Cancers in which Psammoma bodies are seen

A 
PSaMMoma
Papillary thyroid cancer
Serous papillary cystadenocarcinoma of ovary
Meningioma
Mesothelioma
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29
Q

Fanconi syndrome

A

Generalized reabsorptive defect in PCT = increased excretion of most amino acids, glucose, ((HCO3-)), PO43- = Metabolic acidosis
Causes include Hereditary defects (Wilson disease, tyrosinemia, glycogen storage disease), Ischemia, Multiple myeloma, Nephrotoxins/drugs (Expired tetracycline, Tenofovir), Pb poisoning

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30
Q

GPCR-linked second messengers

A

Remember intracellular receptor signaling:
Gq = PLC -> IP3/DAG(PKC) -> Up Ca -> SM contraction
Gs = Up AC -> Up cAMP -> Up PKA -> Up Ca in heart, block MLCK in SM -> Inotropy, SM relaxation
Gi opposite Gs

QISS and QIQ til you're SIQ of SQS (super qinky sex): 
(SNS) a1 = q, a2 = i, b1 = s, b2 = s
(PSNS) M1 = q, M2 = i, M3 = q
(DA) D1 = s, D2 = i
(Histamine) H1 = q, H2 = s
(ADH) V1 = q, V2 = s
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31
Q

Bernard-Soulier syndrome

A

Primary hemostasis defect

Gp1b deficiency prevents platelets binding vWF = Agglutination failure with ristocetin (activates vWF)

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32
Q

Glanzmann thrombasthenia

A

Primary hemostasis defect
GpIIb/IIIa deficiency prevents platelet aggregation via fibrinogen (Similar to blocking GpIIb/IIIa with Abciximab, Eptifibatide, or Tirofiban)
Agglutination occurs with ristocetin (activates vWF)

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33
Q

Renal tubular defect syndromes

A 
FABulous Glittering LiquidS
FAnconi syndrome
Bartter syndrome
Gitelman syndrome
Liddle syndrome
Syndrome of apparent mineralocorticoid excess
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34
Q

Bartter syndrome

A

AR reabsorptive defect in thick ascending loop affecting Na+/K+/2Cl- cotransporter -> Hypokalemia, metabolic alkalosis, hypercalciuria (Ca, Mg would follow other ions out of ascending loop)

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35
Q

Gitelman syndrome

A

AR reabsorptive defect of NaCl in DCT -> Hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia
Less severe than Bartter syndrome

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36
Q

Liddle syndrome

A

AD gain of function mutation causes increased Na+ reabsorption in collecting tubules -> HTN, hypokalemia, metabolic alkalosis, low aldosterone
Treat w/ Amiloride

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37
Q

Syndrome of apparent mineralocorticoid excess

A

Deficiency of 11b-hydroxysteroid DH that normally converts cortisol to cortisone to limit effects
High cortisol -> Up mineralocorticoid receptor activity -> HTN, hypokalemia, metabolic alkalosis, low aldosterone
Can be hereditary or acquired from glycyrrhetic acid in licorice that naturally blocks 11b-HSDH

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38
Q

Lead poisoning treatments

A

Dimercaprol, EDTA

Succimer for chelation in kids

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39
Q

Orotic aciduria

A

AR defect in UMP synthase = Inability to convert orotic acid -> UMP in de novo pyrimidine synthesis
Presents in children = Failure to thrive; dev delay; Megaloblastic anemia refractory to B9, B12; No hyperammonemia (vs. ornithine transcarbamylase deficiency in urea cycle)
Treat w/ UMP to bypass mutated enzyme

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40
Q

Nonmegaloblastic macrocytic anemias

A

DNA synthesis is unimpaired = No hypersegmented PMNs, but RBC macrocytosis
Alcoholism, liver disease, hypothyroidism, reticulocytosis

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41
Q

Fabry disease

A

Lysosomal storage disease
XR a-galactosidase A deficiency causes Gb3 buildup
Adult pres: Peripheral neuropathy, Angiokeratomas (butt, groin, umbilicus), CV and Renal disease; NO HSM

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42
Q

Gaucher’s disease

A

Most common lysosomal storage disease
AR glucocerebrosidase deficiency causes glucocerebroside buildup
HSM, pancytopenia, bone symptoms (osteoporosis, aseptic necrosis of femur, pain crises), Gaucher cells (lipid-laden M0s resembling crumpled tissue paper)
Treatment is recombinant deficient protein

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43
Q

Niemann-Pick disease

A

Lysosomal storage disease
AR sphingomyelinase deficiency causes sphingomyelin buildup
HSM, progressive neurodegeneration, lipid-laden foamy M0s, HSM, “Cherry-red” spot on macula

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44
Q

Tay-Sachs disease

A

Lysosomal storage disease
AR hexosaminidase A deficiency causes buildup of GM2 ganglioside
Progressive neurodegeneration, dev delay, “Cherry-red” spot on macula, onion skin lysosomes, but no HSM (vs. Niemann-Pick)

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45
Q

Krabbe disease

A

Lysosomal storage disease
AR deficiency of galactocerebrosidase causes buildup of galactocerebroside
Peripheral neuropathy, dev delay, OPTIC ATROPHY, globoid cells

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46
Q

Hurler syndrome

A

Lysosomal storage disorder of mucopolysaccharides
AR deficiency of a-L-iduronidase causes buildup of HEPARAN sulfate, dermatan sulfate
Dev delay, gargoylism, airway obstruction, corneal clouding, HSM

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47
Q

Hunter syndrome

A

Lysosomal storage disorder of mucopolysaccharides
XR deficiency of iduronate sulfatase causes buildup of HEPARAN sulfate, dermatan sulfate
Mild form of Hurler w/ Aggressive behavior, but no corneal clouding

48
Q

Pseudo-Pelger-Huet anomaly

A

PMNs w/ bilobed nuclei indicative of myelodysplastic syndromes
Typically seen after CTX

49
Q

Wolff-Chaikoff effect

A

Excess iodine temporarily inhibits thyroid peroxidase leading to decreased T3/T4 for ~days
Used to treat hyperthyroidism
May be a side effect of amiodarone

50
Q

Jod-Basedow effect

A

Temporary hyperthyroidism in previously iodine deficient individuals when a large amount of iodine is administered
(Gland catches up on lost production)

51
Q

Warthin tumor

A

Papillary cystadenoma lymphomatosum of the salivary glands

Benign cystic tumor with germinal centers

52
Q

Mallory-Weiss syndrome

A

Mucosal lacerations at the GEJ due to severe vomiting in alcoholics and bulimics
Can lead to hematemesis, Boerhaave syndrome

53
Q

Plummer-Vinson syndrome

A

Triad: Dysphagia, Iron deficiency anemia, Esophageal webs; May have associated glossitis (beefy red tongue due to mucosal atrophy exposing blood vessels)
Increased risk of esophageal squamous cell carcinoma
More common in older women

54
Q

Menetrier disease

A

Precancerous hyperplasia of gastric mucosa -> Hypertrophied rugae (appearing like brain gyri), Excess mucus -> Protein loss, parietal cell atrophy, achlorhydria

55
Q

Virchow node

A

Left supraclavicular LAD due to gastric cancer metastasis

56
Q

Krukenberg tumor

A

Gastric cancer hematogenous metastases to BL ovaries

Signet ring cells

57
Q

Sister Mary Joseph nodule

A

Subcutaneous periumbilical metastasis of gastric cancer

58
Q

Whipple disease

A

Tropheryma whipplei infection -> Foamy macrophages in intestinal lamina propria
Cardiac sx, Arthralgias, Neuro sx
Older men

59
Q

Gardner syndrome

A

Familial adenomatous polyposis + benign osseous and soft tissue tumours (retinal pigmented epithelium hypertrophy, supernumerary teeth)

60
Q

Turcot syndrome

A

Familial adenomatous polyposis + malignant CNS tumor

61
Q

Peutz-Jeghers syndrome

A

AD syndrome of multiple GI hamartomas, hyperpigmented skin and mucosa
Associated with increased GI, pancreatic, and breast cancer risk

62
Q

Lynch syndrome

A

AKA hereditary nonpolyposis colorectal cancer (HNPCC)
AD DNA mismatch repair gene mutation -> Microsatellite instability -> 80% become colorectal carcinoma (always involves proximal colon)
Associated with endometrial, ovarian, and skin cancers

63
Q

Gilbert syndrome

A

Mildly decreased UDP-glucuronosyltransferase conjugation and impaired bilirubin uptake = increased UCJ bilirubin w/o hemolysis
Asymptomatic or mild jaundice only appearing with fasting/stress (Benign)

64
Q

Crigler-Najjar syndrome (T1, T2)

A

Type I: Absent UDP-glucuronosyltransferase -> High UCJ bilirubin -> jaundice -> Kernicterus -> Death in a few years
Treat w/ plasmapheresis, phototherapy for greater bilirubin excretion

Type II: Less severe, responds to phenobarbital (Liver enzyme synthesis inducer)

65
Q

Dubin-Johnson syndrome

A

CJ hyperbilirubinemia due to defective liver excretion

Grossly black liver, but benign

66
Q

Rotor syndrome

A

Mild CJ hyperbilirubinemia due to defective liver excretion, but not as severe as D-J syndrome
Benign, no black liver

67
Q

Trousseau syndrome

A

Paraneoplastic migratory thrombophlebitis (e.g. DVTs) associated with pancreatic adenocarcinoma
Due to excess thromboplastin activating Factor VII

68
Q

Courvoisier sign

A

Obstructive jaundice with a palpable nontender gallbladder seen in pancreatic adenocarcinoma

69
Q

Hawthorne effect

A

AKA Observer effect

Tendency of study subjects to change their behavior when they know they are being studied

70
Q

Berkson’s bias

A

Selection bias due to choosing hospitalized (sick) patients as the control group

71
Q

Pygmalion effect

A

How a researcher’s belief in the efficacy of a treatment can potentially affect results

72
Q

Romano-Ward syndrome

A

AD pure cardiac congenital long-QT syndrome

73
Q

Jervell and Lange-Nielsen syndrome

A

AR congenital long-QT syndrome with sensorineural deafness

74
Q

Job syndrome

A

AD hyper-IgE syndrome
Deficiency in Th17 cells from STAT3 mutation -> Impaired PMN recruitment -> Impaired inflammation
Coarse facies, cold abscesses, retained primary teeth, high IgE, eczema, low IFN-g

75
Q

Alport syndrome

A

X-linked deficiency of type IV collagen -> Thinning, splitting of glomerular BM
Isolated hematuria, sensory hearing loss, visual disturbances

76
Q

WAGR syndrome

A 
Syndrome of:
Wilms tumor
Aniridia
Genital abnormalities
mental and motor Retardation
77
Q

Beckwith-Wiedemann syndrome

A

Wilms tumor
Neonatal hypoglycemia
Muscular hemihypertrophy (one body side has muscles bigger than the other)
Organomegaly, esp. tongue

78
Q

Takayasu arteritis

A

Granulomatous thickening, narrowing of aortic arch and proximal great vessels (large vessels)
Treat w/ corticosteroids
Weak upper extremity pulses, fever, night sweats, arthritis, myalgias, skin nodules, ocular disturbances

79
Q

Kawasaki disease

A

(CRASH and burn)
Mucocutaneous LN syndrome of Conjunctival injection, Rash, cervical Adenopathy, Strawberry tongue, Hand-foot edema and erythema, FEVER
May cause coronary artery aneurysms (medium vessels)
Treat w/ IVIG and aspirin

80
Q

Buerger disease

A

AKA Thromboangiitis obliterans
Segmental thrombosing vasculitis (medium vessels)
Claudication, autoamputation of digits, Raynaud’s, and superficial nodular phlebitis in heavy smokers
Treat w/ smoking cessation

81
Q

Wegener’s granulomatosis

A

AKA Granulomatosis w/ polyangiitis
Triad of focal necrotizing vasculitis (small vessels), necrotizing granulomas of lung and upper airway, and necrotizing glomerulonephritis
+ c-ANCA
Hemoptysis, dyspnea; hematuria, RBC casts; Nasal septum perforation, chronic URT infection (upper airway involvement distinguishes from micro-PAN and Goodpasture’s)
Treat w/ cyclophosphamide, corticosteroids

82
Q

Churg-Strauss disease

A

AKA Eosinophilic granulomatosis w/ polyangiitis
Necrotizing granulomatous vasculitis w/ eosinophilia (small vessels)
+ p-ANCA, high IgE
Asthma, sinusitis, skin nodules, purpura, peripheral neuropathy, pauci-immune glomerulonephritis
(Asthma, eosinophilia, and granulomas differentiate from micro-PAN)

83
Q

Henoch-Schonlein purpura

A

AKA IgA vasculitis
(Small vessel) vasculitis secondary to IgA nephropathy (Berger disease) in children
Triad following URI: Palpable purpura on buttocks/legs, Arthralgias, Abdominal pain

84
Q

Berger disease

A

IgA nephropathy after mucosal infections
Episodic hematuria w/ RBC casts
Mesangial proliferation w/ immune complex deposits
Renal pathology of Henoch-Schonlein purpura

85
Q

Wilms tumor

A

Nephroblastoma - embryonic glomerular structures
Most common renal malignancy of early childhood
Large palpable unilateral flank mass and/or hematuria
Loss of function to tumor suppressors WT1/WT2 on chromosome 11
May be part of larger syndromes (Beckwith-Wiedemann, WAGR)

86
Q

Hartnup disease

A

AR deficiency of neutral amino acid transporters in PCT and on GI enterocytes -> Low tryptophan for conversion to niacin -> Pellagra
Treat w/ high protein diet, niacin (B3)

87
Q

Caplan syndrome

A

Coal workers’ pneumoconiosis together with rheumatoid arthritis

88
Q

Paget disease

A

Localized bone remodeling disorder:
Increased osteoblast and osteoclast activity
Normal labs except for high ALP
Mosaic pattern of woven and lamellar bone, chalk-stick fractures of long bones
Increased hat size, hearing loss from narrowed foramina, increased risk of osteogenic sarcoma

89
Q

Legg-Calve-Perthes disease

A

Idiopathic osteonecrosis

90
Q

Ewing sarcoma

A

Anaplastic small blue cell (neuroectoderm-derived) malignant tumor of diaphysis in boys - Extremely aggressive, treat w/ CTX
Onion skin periosteal reaction in bone
t(11;22) causes fusion protein EWS-FLI 1
(11 + 22 = 33 for Patrick Ewing)

91
Q

Lesch-Nyhan syndrome

A

XR defective purine salvage from absent HGPRT
Blocks conversion of hypoxanthine -> IMP and guanine -> GMP
Excess uric acid production and de novo purine synthesis
Intellectual disability, self-mutilation, aggression, hyperuricemia, gout, dystonia
Orange sand in diaper
Treat w/ allopurinol or febuxostat

92
Q

Reiter syndrome

A

Triad of conjunctivitis and anterior uveitis, urethritis, and arthritis after dysentery or Chlamydia infections

93
Q

Libman-Sacks endocarditis

A

Nonbacterial vegetations on both sides of heart valves seen with SLE

94
Q

Menkes disease

A

XR CT disease from impaired Cu absorption and transport due to defective ATP7A protein
Decreased lysyl oxidase activity (needs Cu cofactor) -> Brittle kinky hair, growth retardation, hypotonia

95
Q

Duchenne muscular dystrophy

A

X-linked FRAMESHIFT mutations to dystrophin protein -> protein truncation -> inhibit muscle regeneration
Onset before 5y of progressive weakness, calf pseudohypertrophy from fibro-fatty replacement of muscle, use of upper extremities to stand up, waddling gait
Associated w/ dilated cardiomyopathy

96
Q

Becker muscular dystrophy

A

X-linked NON-FRAMESHIFT mutations to dystrophin -> partially functional protein -> Less severe sx than Duchenne muscular dystrophy

97
Q

Williams syndrome

A

Congenital microdeletion of long arm of chromosome 7
Elfin face, intellectual disability, hypercalcemia from vit D sensitivity, CV problems
Well-developed verbal skills and extremely friendly with strangers

98
Q

von Gierke disease

A

Type I glycogen storage disease
AR Deficient Glucose-6-phosphatase
Severe fasting hypoglycemia, high liver glycogen, high blood lactate, high TGs, high uric acid, hepatomegaly
Treat w/ frequent oral glucose and avoid fructose, galactose

99
Q

Pompe disease

A

Type II glycogen storage disease
AR Deficient lysosomal a-1,4-glucosidase (acid maltase)
Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death
(Pompe can’t pump blood)

100
Q

Cori disease

A

Type III glycogen storage disease
AR Deficient debranching enzyme (a-1,6-glucosidase)
Milder form of type I
Normal blood lactate, intact gluconeogenesis

101
Q

McArdle disease

A 
Type V glycogen storage disease
AR Deficient myophosphorylase
High glycogen in muscle, but can't be broken down -> Painful muscle cramps, myoglobinuria w/ strenuous exercise, arrhythmia from electrolyte abnormalities
Blood glucose typically unaffected
Treat w/ vit B6 (cofactor)
(McArdle = Muscle)
102
Q

Caisson’s disease

A

Decompression sickness
Air emboli form due to N2 precipitation in ascending divers
Treat with hyperbaric O2

103
Q

Treacher Collins syndrome

A

1st pharyngeal arch neural crest cells fail to migrate ->

Mandibular hypoplasia, facial abnormalities

104
Q

Kallmann syndrome

A

Failure to complete puberty
Defective migration of GnRH cells (and anosmia from defective formation of olfactory bulb) -> Low GnRH synthesis -> Low FSH, LH, testosterone -> Infertility
(Form of hypogonadotropic hypogonadism)

105
Q

Brenner tumor

A

Benign solid ovarian epithelial tumor - yellow-tan, often encapsulated
Looks like bladder
Call-Exner bodies - cuboidal epithelium in a rosette w/ “Coffee bean” grooved nuclei on H and E

106
Q

Meigs syndrome

A

Triad of ovarian fibroma, ascites, and hydrothorax

107
Q

Asherman syndrome

A

Secondary amenorrhea due to obstruction from scarring of the uterine cavity
Sequela of uterine infection and procedures

108
Q

Werdnig-Hoffman disease

A

AKA spinal muscular atrophy
AR congenital degeneration of anterior horns of spinal cord = LMN lesions -> Floppy baby w/ hypotonia, tongue fasciculations
(Same lesions as CNS polio, but congenital)
Death by 7 months

109
Q

Marcus Gunn pupil

A

Afferent defect to CN II or retina
Decreased bilateral pupillary constriction when light is shown in the affected eye
Tested w/ swinging light

110
Q

Argyll-Robertson pupil

A

“Prostitute’s pupil”
Constricts w/ accommodation, but doesn’t react to light
Associated w/ 3o syphilis

111
Q

Parinaud syndrome

A

Lesion in superior colliculi due to stroke, hydrocephalus, pinealoma -> Paralysis of conjugate vertical gaze

112
Q

Kluver-Bucy syndrome

A

Lesion in bilateral amygdala associated w/ HSV-1 -> Loss of fear, disinhibited behavior (hyperphagia, hyperorality, hypersexuality)

113
Q

Signs of hypercalcemia

A

Muscle weakness, polyuria, polydipsia, constipation

114
Q

Signs of hypocalcemia

A

Muscle cramps, perioral paresthesias, hypotension, neuromuscular excitability

115
Q

Brugada syndrome

A

AD pseudo-right bundle branch block and V1-V3 ST elevations
Increased risk of ventricular arrhythmias
Treat with implantable cardioverter-defibrillator
Asian males

116
Q

Wolff-Parkinson-White syndrome

A

Abnormal fast accessory conduction pathway between atria and ventricle bypasses AV node -> Early partial ventricular depolarization
Characteristic delta wave before widened QRS with short PR interval
May result in reentry circuit -> Supraventricular tachycardia

117
Q

Arteriolosclerosis types

A

Affects small arteries, arterioles
Hyaline - pink deposits thickening of walls in essential HTN, DM
Hyperplastic - ‘onion skinning’ fibrinoid necrosis in malignant HTN

Step 1 FCs (5 decks)

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