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USMLE step 1 Rapid Review > Classic Presentations > Flashcards

Classic Presentations Flashcards

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USMLE® Step 1 flashcards
1
Q

gout, intellectual disability, self mutilating behavior in a boy, orange sand like crystals.

increased de novo purine synthase, increased PrPP.

TX: allopurinol

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

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2
Q

situs inversus, chronic sinusitis, bronchiectasis, infertility
(dyne arm defect affecting cilia)

A

Kartagner Syndrome

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3
Q

Blue Sclera (type 1 collagen defect)

decreased formation hydrogen and disulfide. cannot for 3 helix (prepro).

Tx: decrease risk for fracture = biphosonate
(MOA: decreases reabsorption of bone by inhibiting osteoclasts; ADR: hypocalcemia, aseptic osteonecrosis of the jaw (prevent with excess water); Contraindicated: hypoCA, renal failure, pregnancy)

A

Osteogenesis imperfecta

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4
Q

Elastic skin, hyper mobility of joints, increases bleeding tendency

(type V collagen defect, Type III collagen defect seen in vascular subtype of ED)

crosslinking lysine hydrolysine

A

Ehlers Danlos syndrome

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5
Q

Arachnodactyly, lens dislocation (upward)aortic dissection, hyperflexible joints

Chromosome 15 (fibrillar defect)

A

Marfan syndrome

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6
Q

Cafe-au-Lait (unilateral), polyostotic fibrous dysplasia, endocrine abnormalites (precocious puberty)

(mosaic Gs-protein signaling mutation)

A

McCune-Albright syndrome

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7
Q

Calf pseudohypertrophy, Child uses arms to stand up from squat

x linked recessive frameshift mutation of the dystrophin gene

CCOD: dilated cardiomyopathy (S3)

A

Duchenne muscular dystrophy

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8
Q

ABCCCD

alcohol, Beri beri, coxsacci, chagas, cocain, doxirubicin

A

Dilated Cardiomyopathy causes

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9
Q

Slow, Progressive muscle weakness in the boys

(X-linked missense mutation in dystrophin; less severe than Duchenne)

A

Becker muscular dystrophy

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10
Q

Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patua syndrome (tri 13)

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11
Q

Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect

A

Edwards syndrome (tri 18)

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12
Q

Single palmar crease

A

Down syndrome

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13
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

thiamine [B1] deficiency

A

Wet Beriberi

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14
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [B3] deficiency)

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15
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Cant hydroxylate proline/lysine for collage synthesis

A

Scurvy (vit C deficiency)

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16
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria, low lactate levels

(skeletal muscle glycogen phosphorylase deficiency)

A

McArdle disease

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17
Q

Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphate deficiency, more severe)

A

Infant with hypoglycemia, hepatomegaly

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18
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

(lysosomal alpha-1,4 glucosidase deficiency)

A

Pompe disease

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19
Q

Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion

A

“cherry-red spots” on macula

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20
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femoral head bone crises

(glucocerebrosidase deficiency)

A

Gaucher disease

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21
Q

Achilles tendon xanthoma

decreased LDL receptor signaling

A

familial hypercholesterolemia

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22
Q

Anaphylaxis flowing blood transfussion

gice IgA deficiency blood or wash blood products to remove IgA

A

IgA deficiency

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23
Q

Male child, recurrent infections, no mature B cells
B!!
Boy
BTK defect
Babies 3-6 months (after 6 months cant use mom IgG)
Bacterial infections
difficulty to express B cells (mature)

A

Bruton disease (x-linked agannaglobunemia)

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24
Q

Recurrent cold, (noninflamed) abscesses, unusual eczema, high serum IgE

AD STAT 3 mutation –> Th17 decreased –> decreased neutrophil and macrophage chemotaxis.

eosinophilia, decreased INF gamma,

A

Hyper IgE syndrome (Job syndrome)

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25
Q

“strawberry tongue”

A

scarlet fever

Kawasaki disease

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26
Q

Adrenal hemorrhage (insufficiency), hypotension, DIC, fever

decreased Na, increased K, decreased BP.

A

Waterhouse- Friderichsen syndrome (meningiococcemia)

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27
Q

Red “current jelly” sputum in alcoholic or diabetic patients.
Aspiration pneumonia
Abscess in lungs and liver

connection: can also cause stag horn calculi

A

Klebsiella pneumoniae pneumonia

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28
Q

Erythema chronic migraines from from Ixoddes tick bite (Large rash with bulls eye appearance)

tx: doxycycline or penicillin-type antibiotics (eg, ceftriaxone). amoxicillin (pregnant <8yo)

Stage 2—early disseminated: secondary lesions, carditis, AV block, facial nerve (Bell) palsy, migratory myalgias/transient arthritis.
Stage 3—late disseminated: encephalopathy, chronic arthritis, peripheral neuropathy.

A

Lyme disease: Borrellia

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29
Q

Nonpainful: chancre (primary siphilis, Treponema Pallidum)
Painfull: with exudate: chancroiD (haemophilus Ducreyi)

A

indurated ulcerated genital lesion

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30
Q

Confusion, ophthalmoplegia/nystagmus, ataxia

Thiamine deficiency = cant breakdown glucose
decreased cerebella’s glucose breakdown- messed up mitochondria. No mito, decreased ATP increased free radicals.
Destruction of cells.

decreased neurotransmitters, BBB, myelin sheets.

TX: 1. thiamine, 2. glucose.
no glucose induces hypoglycemia

A

Wernicke encephalopathy

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31
Q

excess: pseudotumor cerebriae. (increased CSF production). dry skin, hepatosplenomegaly.

A

Vitamin A

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32
Q

Bowlegs in children, bone pain, and muscle weakness

characterized by excessive unmineralized osteoid matrix at the epiphyseal cartilage.

A

Rickets (children), osteomalacia (adults); vitamin D

deficiency

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33
Q

Hemorrhagic disease of newborn with  increased PT,  PTT

A

Vitamin K deficiency

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34
Q

Bluish-black connective tissue, ear cartilage, sclerae;
urine turns black on prolonged exposure to air

(homogentisate oxidase deficiency;
ochronosis) AR inhibited metabolism of tyrosine –> fumerate, leading to an accumulation of homogentisic acid

A

Alkaptonuria

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35
Q

recurrent neisseria infection

A

terminal compliment deficiencies (c5-C9)

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36
Q 
Late separation (>30 days) of umbilical cord, no pus,
recurrent skin and mucosal bacterial infections
A

Leukocyte adhesion deficiency (type 1; defective LFA-1

integrin)

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37
Q

Recurrent infections and granulomas with catalase ⊕

organisms

A

Chronic granulomatous disease (defect of NAPDH

oxidase)

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38
Q

Fever, vomiting, diarrhea, desquamating rash following

use of nasal pack or tampon

A

Staphylococcal toxic shock syndrome

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39
Q

Colon cancer diagnosed a few years after endocarditis

preventative penicilline

A

Streptococcus bovis

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40
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic
use, toxic megacolon

pseudomembranous colitis (neutrophil-predominant inflammatory infiltrate, fibrin, bacteria, and necrotic epithelium)

Tx: metronidizole, oral Vanc, FIDAXOMICIN

A

C diff

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41
Q

Flaccid paralysis in newborn after ingestion of honey

tx: human botulism immunoglobulin

A

Clostridium botulinum infection (floppy baby syndrome)

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42
Q

Tonsillar pseudomembrane with “bull’s neck” appearance

A

Corynebacterium diphtheria infection

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43
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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44
Q

Pupil accommodates but doesn’t react to light

A

Neurosyphilis (Argyll Robertson pupil)

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45
Q

Smooth, moist, painless, wart-like white lesions on

genitals

A

Condylomata lata (2° syphilis)

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46
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (due to host response to

sudden release of bacterial antigens)

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47
Q

Dog or cat bite resulting in infection (cellulitis, osteomyelitis)

A

Pasteurella Multocida (cellulitis at inoculation site)

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48
Q

Atypical “walking pneumonia” with x-ray looking worse than the patient

A

Mycoplasma pneumonia infection

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49
Q

TRiCKSSSS

T-toxic shock
R-rocky Montain spotted fever
C- Coxsackie A
K- Kawassaki 
S- scalded skin 
S- syohillis 
S- scarlet fever 
S- Steven johnson
A

Rash on palms and soles

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50
Q

Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia

A

Mucor or Rhizopus fungal infection

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51
Q

Choriorentinitis, hydrocephalus, intracranial calcifications

A

congenital toxoplasmosis

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52
Q

Pruritus, serpiginous rash after walking barefoot

A

Hookworm (anchilostoma spp, Necator Americanus)

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53
Q

Child with fever later develops red rash on the face that spreads to body

A

Erythema infectious/ fifth disease (“slapped cheeks” appearance caused by Parvo B19)

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54
Q

Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash

A

Measles

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55
Q

Small, irregular red spots on the buccal/lingual mucosa with blue-white centers

A

Kopek spots (measles [rubeola] virus)

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56
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

eccentric hypertrophy (length of muscle fibers), increased end diastolic S3. systolic disfunction

A

Aortic regurgitation

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57
Q

Systolic ejection murmur (crescendo-decresenco), narrow pulse pressure, pulses parvus et tardus, syncope, older age (unless bicuspid), ejection clic

louder right- root
louder left- valve

can look like MI

A

Aortic stenosis

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58
Q

Continuous “machine-like” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

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59
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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60
Q

Chest pain, pericardial effusion/friction rub, persistent
fever following MI (autoimmune-mediated post-MI
fibrinous pericarditis, 2 weeks to several months after
acute episode)

A

Dressler syndrome

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61
Q

Beck triad: Distant heart sounds, distended neck veins, hypotension

intraventricular septum bulges towards left–> decreases diastole which decreases SV –> decrease CO

end diastolic pressure in all 4 chambers is equal

electrical alternance

A

Cardiac tamponade

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62
Q

Painful, raised red sessions on pads of fingers/ toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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63
Q

Painless erythematous lesions on palm and soles

A

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

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64
Q

Splinter hemorrhage in fingernails

A

Bacterial endocarditis

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65
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

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66
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia ( Osler-Weber- Rendu syndrome)

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

68
Q

Heat intolerance, weight loss, palpitations

A

HYPERthyroidism

69
Q

Cold intolerance, weight gain, brittle hair

A

HYPOthyroidism

70
Q

Cutaneous/ dermal edema due to deposition of mucopolysaccharides in connective tissue

A

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

71
Q

Facial muscle spasm upon tapping

A

chvosteck sign (hypocalcemia)

72
Q

Carpal spasm upon inflation of BP cuff

A

Trousseau sign (hypocalcemia)

73
Q

Deep, labored breathing/ hyperventilation

A

Diabetic keto acidosis (Kussmaul respirations)

74
Q

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

A

Chronic 1* adrenal insufficiency (Addison disease) –> incensed ACTH, increased alpha-MSH

75
Q

Shocked, altered mental status, vomiting, abdominal pain, weakness, fatigue

A

Acute adrenal insufficiency (adrenal crisis)

76
Q

Pancreatic, Pituitary, Parathyroid tumors

A

MEN1 (autosomal dominant MEN1 mutation)

77
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN2B (autosomal dominant RET mutation)

78
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant RET mutation)

79
Q

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

A

Carcinoid syndrome (increased 5-HIAA)

80
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

81
Q

vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)

82
Q

Dysphagia (esophageal webs), glossitis, iron deficiency, anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

83
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

84
Q

Hematemesis, melena

A

Upper GI bleeding (eg, peptic ulcer disease)

85
Q

Hematochezia

A

Lower GI bleeding (eg, colonic diverticulosis)

86
Q

Arthralgias, adenopathy cardiac and neurological symptoms, malabsorption diarrhea (key + mixed systemic)

gram positive intracellular bacteria.

Tx: ceftriaxone 2 weeks. TMPSMX 1yr (maintenance)

ddx: tropical spru (same but tropical travel) tx: tetracycline + folic acid

A

Whipple disease (tropheryma whepplei)

87
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

88
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

89
Q

Hamartomatous GI polyps, hyper pigmented macules on mouth, feet, hands, genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

90
Q

Multiple colon polyps, osteomas/ soft tissue tumors, impacted/ supernumerary teeth

A

Gardner syndrome (subtype of FAP)

91
Q

CN1: UDPGT deficiency, unconjugated.
tx: phototherapy (converts the unconjugated to water soluble for excretion), plasmapheresis. Curative= liver transplant. Complication: Kernectarus

CN2: UDPGT (low amount) no symptoms, mild elevated unconjugated. TX: phenobarbital (increases UDPGT)

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

92
Q

Kayser-Fleischer rings due to copper accumulation: Golden brown rings around peripheral cornea

AR mutation in ATP7B chromosome 13

hepatic failure, cirrhosis, psychiatric symptoms, Parkinsonism, gait disturbance.

Tx: Chelators

A

Wilson disease

93
Q

Female, fat, fertile, forty

A

Cholelithiasis (gallstones)

94
Q

Painless jaundice with enlarged gallbladder

A

Cancer of the pancreatic head obstructing bile duct

95
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

96
Q

Pancytopenia (bone marrow destruction). genetic loss of DNA cross link repair

Short stature, cafe-au-lait, thumb/radial defects, increased incidence of tumors/ leukemia, aplastic anemia. Progresses to AML

Tx: GM- CSF (bone marrow stimulant)

A

Fanconi anemia

97
Q

Red/ pink urine, fragile RBCs
anchor protein problem GPI defect: PIGA gene
compliment; intra and extra vascular hemolysis

recurrent venous thrombosis, pancytopenia
CD55/59
complications: MI, Budd Ciarri

A

Paroxysmal nocturnal hemoglobinuria

98
Q

Painful blue fingers/ toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)

99
Q

Petechiae, mucosal bleeding, prolonged bleeding time

A

Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)

100
Q

Skin patches/plaques, Pautrier microabscesses, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

101
Q

Neonate with arm paralysis following difficult birth, arm

in “waiter’s tip” position

A

Erb-Duchenne palsy (superior trunk [C5–C6] brachial

plexus injury)

102
Q

Anterior drawer sign ⊕

A

Anterior cruciate ligament injury

103
Q

Bone pain, bone enlargement, arthritis

A 
Osteitis deformans (Paget disease of bone,  osteoblastic
and osteoclastic activity)
104
Q

Swollen, hard, painful finger joints in an elderly

individual, pain worse with activity

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP

[Heberden nodes])

105
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia

106
Q

Dry eyes, dry mouth, arthritis
(autoimmune destruction of exocrine
glands)

A

Sjögren syndrome

107
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

108
Q

“Butterfly” facial rash, arthritis, cytopenia, and fever in a
young female, HLA-DR3

Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)

Antihistone antibodies= Drug induced SLE HIPP (hydralazine, isoniazid, procanamide, phenytoin)

A

Systemic lupus erythematosus

109
Q

Cervical lymphadenopathy, desquamating rash, coronary
aneurysms, red conjunctivae and tongue, hand-foot
changes

A

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

110
Q

Palpable purpura on buttocks/legs, joint pain, abdominal
pain (child), hematuria.

Nephritic

A

Immunoglobulin A vasculitis (Henoch-Schönlein

purpura)

111
Q

Painful fingers/toes changing color from white to blue to
red with cold or stress

Tx: CCB 2nd SSRI

A

Raynaud phenomenon (vasospasm in extremities)

112
Q

Dark purple skin/mouth nodules in a patient with AIDS

, associated with HHV-8

A

Kaposi sarcoma

113
Q

Pruritic, purple, polygonal planar papules and plaques

6 P’s

A

Lichen planus

114
Q

Ataxia, nystagmus, vertigo, dysarthria

A 
Cerebellar lesion (lateral affects voluntary movement of
extremities; medial affects axial and proximal movement)
115
Q

Dorsiflexion of large toe with fanning of other toes upon

plantar scrape

A

Babinski sign (UMN lesion)

116
Q

Hyperphagia, hypersexuality, hyperorality, amnesia, placidity

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

117
Q

Resting tremor, athetosis, chorea

A

Basal ganglia lesion

118
Q

Lucid interval after traumatic brain injury

A 
Epidural hematoma (middle meningeal artery
rupture; branch of maxillary artery)
119
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

120
Q

Dysphagia, hoarseness, decreased gag reflex, nystagmus, ipsilateral, Horner syndrome

A

Lateral medullary syndrome (posterior inferior cerebellar

artery lesion)

121
Q

Resting tremor, rigidity, akinesia, postural instability,

shuffling gait, micrographia

A 
Parkinson disease (loss of dopaminergic neurons in
substantia nigra pars compacta)
122
Q

Chorea, dementia, caudate degeneration

A 
Huntington disease (autosomal dominant CAG repeat
expansion)
123
Q

Urinary incontinence, gait apraxia, cognitive dysfunction

A

Normal pressure hydrocephalus

124
Q

Nystagmus, intention tremor, scanning speech, bilateral

internuclear ophthalmoplegia

A

Multiple sclerosis

125
Q

Rapidly progressive limb weakness that ascends following, GI/upper respiratory infection

A

Guillain-Barré syndrome (acute inflammatory

demyelinating polyneuropathy)

126
Q

Café-au-lait spots, Lisch nodules (iris hamartoma),
cutaneous neurofibromas, pheochromocytomas, optic
gliomas

A

Neurofibromatosis type I `

127
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus

benign, but associated with Sturge- Weber syndrome
GNAQ gene; ipsilateral leptomeningeal angioma with calcifications

128
Q

Renal cell carcinoma (bilateral), hemangioblastomas,

angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (deletion of VHL gene on

chromosome 3p)

129
Q

Bilateral vestibular schwannomas

A

Neurofibromatosis type 2

130
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

131
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

132
Q

Flaccid limb weakness, fasciculations, atrophy, bulbar palsy

A

UMN and LMN deficits

133
Q

Staggering gait, frequent falls, nystagmus, hammer toes,

diabetes mellitus, hypertrophic cardiomyopathy

A

Friedreich ataxia

134
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the

forehead

135
Q

Episodic vertigo, tinnitus, sensorineural hearing loss

A

Ménière disease

136
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

137
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A 
Internuclear ophthalmoplegia (damage to MLF; may be
unilateral or bilateral)
138
Q

“Waxing and waning” level of consciousness (acute

onset),  decreased attention span, decreased level of arousal

A

Delirium (usually 2° to other cause)

139
Q

Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

140
Q

Periorbital and/or peripheral edema, proteinuria (> 3.5g/

day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

141
Q

Hereditary nephritis, sensorineural hearing loss,
retinopathy, lens dislocation

BM damage
cant see, cant hear, cant pee

A

Alport syndrome (mutation in type IV collagen)

142
Q

Wilms tumor, macroglossia, organomegaly, hemihyperplasia (one sided big), omphalocele

A

Beckwith-Wiedemann syndrome (WT2 mutation)

143
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

A

Turner syndrome (45,XO)

144
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

145
Q

Ovarian fibroma, ascites, pleural effusion

A

Meigs syndrome

146
Q

Fibrous plaques in tunica albuginea of penis with

abnormal curvature

A

Peyronie disease (connective tissue disorder)

147
Q

Hypoxemia, polycythemia, hypercapnia

A 
Chronic bronchitis (hypertrophy and hyperplasia of
mucous cells, “blue bloater”)
148
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar [smoking] or

panacinar [α1-antitrypsin deficiency])

149
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

150
Q

S. pneumo, corona, Adeno, rhino, m. catarrhalis, h.flu

TX: oral abs ammoxicillin + clavuline after 3 days

Complications Orbital cellulitis, access, meningitis

A

Sinusitis bugs, tx, complications

151
Q

Meconium ileus in neonate, recurrent pulmonary
infections, nasal polyps, pancreatic insufficiency,
infertility/subfertility

(CFTR gene defect, chr 7, Phe508 deletion)

TX: bronchodilators, physiotherapy, fat soluble vit, pancreas enzymes.

pneumonia organisms: children- s. aureus; adults- pseudomonas

A

Cystic fibrosis

152
Q

20-40 yo

all immunoglobulins low

A

CVID

153
Q

CATCH 22.

AD chromosome 22q11. phangeal pushes 3&4

C- Cardiac defects (conotruncal abnormalities [eg, tetralogy of Fallot, truncus arteriosus])
A- Abnormal facies
T- Thymic hypoplasia Ž= T-cell deficiency (recurrent viral/ fungal infections)
C-Cleft palate
H-Hypocalcemia 2° to parathyroid aplasia Ž tetany

A

DiGeroge

154
Q

reduced UDPGT
stress related jaundice
Mutation in UGT A1 gene promotor region

A

Gilbert

155
Q

conjugated billirubinemia
Pt has excretion problem
dark granular pigmented liver (breakdown of epinephrine)

ROTO: baby Rubin johnson, cannot transport bilirubin, transport protein issue

A

Dubin Johnson

ROTO

156
Q

petechia or no symptoms
Low platelets
SLE, lymphoma, leukemia
virus : HIV, HCV

anti platelet antibody IgG against GP IIb. IIIa

tx: cortico sterioids

A

ITP

157
Q

Adams 13 deficiency (metaloproteinase deficiency- normally stops thrombus formation)

Sheared RBS (shistocytes) low platelet levels

A

TTP

158
Q

Aggregation disorder, GP IIb/IIIa

A

Glazemann

159
Q

Adhesion disorder Gp IB

A

Bernard soulie

160
Q

Congenital failure of phagolysosome formation.

Large granules in phagocytes, immunodeficiency

partial albinism, progresive neurodegeneration

A

Chédiak-Higashi disease

161
Q 
Increases IgA increased IgE
Was
igA
Immunodefeciency
Thrombocytopenia 
Eczema 
igE
Recurrent infections
A

Wiskott-Aldrich syndrome

162
Q

Alternating (skipped) areas of transmural inflammation and normal colon. Fistula, accesses, obstruction
associations: NHL

Histo: Noncasiating granulomas
ASCA: Anti-Saccharomyces cerevisiae antibodies
X-ray: Narrowing of bowel lumen on barium x-ray “string sign”

tx: Corticosteroids, infliximab, azathioprine, tacrolimus, cyclosporine

A

Crohns

163
Q

Continous submucosal/ mucosal inflammation starting in the rectum.

Complications: primary sclerosing cholangitis, toxic megacolon, colorectal/ cholngio carcinoma.

Histo: crypt abscesses (neutrophil collections within glandular lumen) and crypt atrophy.
X-ray:“Lead pipe” appearance of colon on abdominal imaging (loss of haustra)

Tx: 5-ASA preparations (eg, mesalamine), 6-mercaptopurine, infliximab, colectomy (curative)

A

Ulcerative Colitis

164
Q

AR defect N-acetylglucosaminyl-1-phosphotransferase Ž(aka mannose 6 phospate deficiency (M6P))

Proteins staged with M6P go to lysosome for destruction. No M6P proteins and enzymes end up in plasma.

Results in coarse facial features, gingival hyperplasia, corneal clouding, restricted joint movements, claw hand deformities, kyphoscoliosis, and  plasma levels of lysosomal enzymes. Often fatal in childhood.

A

I-Cell Disease

USMLE step 1 Rapid Review (6 decks)

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