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RAPID REVIEW Flashcards

1
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyhan Syndrome (HGPRT deficiency, XR)

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2
Q

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Blue sclera

A

Osteogenesis Imperfecta (type 1 collagen defect)

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4
Q

Elastic skin, hyper-mobility of joints, increased bleeding tendency

A

Ehlers-Danlos syndrome (Type 5 collagen defect, type 3 collagen defect seen in vascular subtype of ED)

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5
Q

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

A

Marfan syndrome (fibrillin defect)

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6
Q

Arachnodactyly, pectus deformity, lens dislocation (downward)

A

Homocystinuria (AR)

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7
Q

Cafe au lait spots (unilateral), polyostotic fibrous dysplasia - leading to uneven growth, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (Gs- protein activating mutation)

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8
Q

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

A

Cystic fibrous (CFTR gene defect, chromosome 7, Phe508 deletion)

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9
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to XR frame shift mutation of dystrophin gene)

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10
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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11
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

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12
Q

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

A

Patau syndrome (trisomy 13)

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13
Q

Infant with microcephalic, rocker-bottom feet, clenched hands, & structural heart defect

A

Edwards syndrome (trisomy 18)

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14
Q

Single palmar crease

A

Down syndrome

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15
Q

Confusion, ophthalmoplegia/nystagmus, ataxia

A

Wernicke encephalopathy

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16
Q

Dilated cardiomyopathy/ high output heart failure, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine/B1 deficiency)

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17
Q

Burning feet syndrome

A

Vitamin B5 deficiency

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18
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin/B3 deficiency)

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19
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
- tea & toast diet

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20
Q

Bowlegs in children, bone pain, & muscle weakness

A

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

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21
Q

Hemorrhagic disease of newborn with increased PT and PTT

A

Vitamin K deficiency

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22
Q

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

A

Alkaptonuria (Homogentisate oxidase deficiency; ochronosis)

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23
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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24
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) OR Von Gierke disease (glucose 6 phosphatase deficiency - more severe)

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25
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)

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26
Q

“Cherry red spots” on macula

A

Tay Sachs (ganglioside accumulation) OR Neimann Pick (sphingomyelin accumulation), central retinal artery occlusion

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27
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase [beta-glucosidase] deficiency)

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28
Q

Achilles’ tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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29
Q

Recurrent Neisseria infection

A

Terminal complement deficiencies (C5-C9)

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30
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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31
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

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32
Q

Recurrent cold (non-inflammed) abscesses, eczema, high serum IgE, increased eosinophils

A

Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

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33
Q

Late separation (>30 days) of umbilical cord, no pus, recurrent skin & mucosal bacterial infections

A

Leukocyte adhesion deficiency (type 1; defective LFA-1 integrin)

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34
Q

Recurrent infections and granulomas with catalase + organisms

A

Chronic granulomatous disease (defect of NAPDH oxidase)

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35
Q

Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon

A

Staphylococcal toxic shock syndrome

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36
Q

“Strawberry tongue”

A

Scarlet fever

Kawasaki disease

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37
Q

Colon cancer diagnosed a few years after endocarditis

A

Streptococcus Bovis

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38
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridium difficile infection

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39
Q

Flaccid paralysis in newborn after ingestion of honey

A

Clostridium botulinum infection (floppy baby syndrome)

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40
Q

Tonsillar pseudomembrane with “bull’s neck” appearance

A

Corynebacterium diphtheria infection

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41
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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42
Q

Adrenal insufficiency, fever, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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43
Q

Red “currant jelly” sputum in patients with alcohol overuse or diabetes

A

Klebsiella pneumoniae pneumonia

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44
Q

Large rash with bull’s eye appearance

A

Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)

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45
Q

Ulcerated genital lesion

A

Nonpainful, indurated: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

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46
Q

Pupil accommodates but doesn’t react to light

A

Neurosyphilis (Argyll Robertson pupil)

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47
Q

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

A

Condylomata lata (secondary syphilis)

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48
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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49
Q

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

A

Pasteurella multocida (cellulitis at inoculation site)

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50
Q

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

A

Mycoplasma pneumoniae infection

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51
Q

Rash on palms and soles

A

Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

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52
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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53
Q

Pruritus, serpiginous rash after walking barefoot

A

Hookworm (Ancylostoma spp, Necator americanus)

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54
Q

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

A

Erythema infectiosum/ fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

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55
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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56
Q

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

A

Koplik spots (measles [rubeola] virus)

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57
Q

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

A

Aortic regurgitation

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58
Q

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulses parvus et tardus

A

Aortic stenosis

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59
Q

Continuous “machine-like” heart murmur

A

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

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60
Q

Chest pain on exertion

A

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

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61
Q

Chest pain with ST depressions on ECG

A

Angina (neg. troponins) or NSTEMI (pos. Troponins)

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62
Q

Chest pain, pericardial effusion/friction rub, persistent fever following MI

A

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

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63
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

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64
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

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65
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/ micro-abscesses)

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66
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

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67
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

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68
Q

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

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

69
Q

Polyuria (water diuresis), polydipsia

A

Primary polydipsia, diabetes insipidus (central, nephrogenic)

70
Q

NO lactation postpartum, absent menstruation, cold intolerance

A 
Sheehan syndrome  (postpartum hemorrhage leading to pituitary infarction) 
- can lead to central hypothyroidism
71
Q

Heat intolerance, weight loss, palpitations

A

Hyperthyroidism

72
Q

Cold intolerance, weight gain, brittle hair

A

Hypothyroidism

73
Q

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

A

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

74
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

75
Q

Carpal spasm upon inflation of BP cuff

A

Trousseau sign (hypocalcemia)

76
Q

Deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

77
Q

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

A

Chronic primary adrenal insufficiency (Addison disease) —> increased ACTH, increased alpha-MSH

78
Q

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

A

Acute adrenal insufficiency (adrenal crisis)

79
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1 (AD MEN1 mutation)

80
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (AD RET mutation)

81
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (AD RET mutation)

82
Q

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

A

Carcinoid syndrome (increased 5-HIAAA)

83
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

84
Q

Vomiting blood following gastroesophageal lacerations

A

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

85
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

86
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

87
Q

Hematemesis, melena

A

Upper GI bleeding (eg peptic ulcer disease)

88
Q

Hematochezia

A

Lower GI bleeding (eg colonic diverticulosis)

89
Q

Arthralgias adenopathy, cardiac and neurological symptoms, diarrhea

A

Whipple disease (tropheryma whipplei)

90
Q

Severe RLQ pain with palpating of LLQ

A

Rovsing sign (acute appendicitis)

91
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

92
Q

Hemartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia

A

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

93
Q

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

A

Gardner syndrome (subtype of FAP)

94
Q

Severe jaundice in neonate

A

Crigler- Najjar syndrome (congenital unconjugated hyperbilirubinemia)

95
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

96
Q

Female, fat, fertile, forty

A

Cholelithiasis (gallstones)

97
Q

Painless jaundice with enlarged gallbladder

A

Cancer of the pancreatic head obstructing bile duct

98
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

99
Q

Short stature, cafe au lait spots, thumb/ radial defects, increased incidence of tumors/ leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA cross link repair; often progresses to AML)

100
Q

Red/pink urine, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

101
Q

Painful blue fingers/toes, hemolytic anemia

A

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

102
Q

Petechiae, mucosal bleeding, prolonged bleeding time

A

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

103
Q

Fever, night sweats, weight loss

A

B symptoms of malignancy

104
Q

Skin patches/plaques, Pautrier micro-abscesses, atypical T cells

A

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

105
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)

106
Q

Anterior drawer sign +

A

Anterior cruciate ligament injury

107
Q

Bone pain, bone enlargement, arthritis

A

Osteitis deformans (Paget disease of the bone, increased osteoblast and osteoclasts activity)

108
Q

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

109
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/ podagra (hyperuricemia)

110
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmune destruction of exocrine glands)

111
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

112
Q

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

A

Systemic lupus erythematosus

113
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)

114
Q

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

A

Immunoglobulin A vasculitis (Henoch-Schonlein purpura, affects skin & kidneys)

115
Q

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

A

Raynaud phenomenon (vasospasm in extremities)

116
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

117
Q

Pruritic, purple, polyclonal planar papules & plaques (6 Ps)

A

Lichen planus

118
Q

Ataxia, nystagmus, vertigo, dysarthria

A

Cerebellum lesion (lateral affects voluntary movement of extremities; medial affects axial & proximal movement)

119
Q

Dorsiflexion of large toe with fanning of other toes upon plantar scrape

A

Babinski sign (UMN lesion)

120
Q

Hyperphagia, hypersensitivity, hyperorality

A

Kluver- Bucy syndrome (bilateral amygdala lesion)

121
Q

Resting tremor, athetosis, chorea

A

Basal ganglia lesion

122
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (MMA rupture; branch of maxillary artery)

123
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

124
Q

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

A

Lateral medullary syndrome (posterior inferior cerebellar artery lesion)

125
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia

A

Parkinson’s disease (loss of dopaminergic neurons in substantia nigra pars compacta)

126
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (AD CAG repeat expansion)

127
Q

Urinary incontinence, gait apraxia, cognitive dysfunction

A

Normal pressure hydrocephalus

128
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplagia

A

Multiple sclerosis

129
Q

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

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)

130
Q

Cafe au lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytoma, optic gliomas

A

Neurofibromatosis type 1

131
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with Sturge- Weber syndrome)

132
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

Von Hippel Lindau disease (deletion of VHL gene on chromosome 3p)

133
Q

Bilateral vestibular schwannomas

A

Neurofibromatosis type 2

134
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

135
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

136
Q

Flaccid limb weakness, fasciculations, atrophy, bulbar palsy

A

UMN and LMN deficits

137
Q

Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy

A

Friedreich ataxia

138
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN 7) palsy

UMN lesions spare the forehead

139
Q

Episodic vertigo, tinnitus, sensorineural hearing loss

A

Meniere disease

140
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

141
Q

Conjugate horizontal gaze palsy, horizontal diploma

A

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

142
Q

“Waxing and waning” level of consciousness (acute onset), decreased attention span, decreased level of arousal

A

Delirium (usually secondary to other cause)

143
Q

Polyuria, renal tubular acidosis type 2, growth retardation, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (multiple combined dysfunction of the PCT)

144
Q

Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

145
Q

Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation

A

Alport syndrome (mutation in type 4 collagen)

146
Q

Wilms tumor, macroglossia, organomegaly, hemihyperplasia, omphalocele

A

Beckwith- Wiedemann syndrome (WT2 mutation)

147
Q

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

A

Turner syndrome (45,XO)

148
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

149
Q

Ovarian fibroma, ascites, pleural effusion

A

Meigs syndrome

150
Q

Fibrous plaques in tunica albuginea of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

151
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hypertrophy and hyperplasia of the mucous cells, “blue bloater”)

152
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [alpha-1 antitrypsin deficiency)

153
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

154
Q

Cholangiocarcinoma

Pancreatic adenocarcinoma

A

RAS (GTP binding protein)

155
Q

Burkitt Lymphoma

A

MYC (transcription factor)

156
Q

Lung adenocarcinoma

A

ERBB1 (EGFR) - (receptor tyrosine kinase)

157
Q

Breast cancer

A

ERBB2 (HER2) - (receptor tyrosine kinase)

158
Q

Chronic myelogenous leukemia

A

ABL (nonreceptor tyrosine kinase)

159
Q

Hairy cell leukemia

Melanoma

A

BRAF (Ras signal transduction)

160
Q

Breast & ovarian cancer

A

BRCA 1/2 (DNA repair genes)

161
Q

Colon, gastric, & pancreatic cancer

Familial adenomatous polyposis

A

APC/ Beta catenin (Wnt signaling pathway)

162
Q

Most cancers

Li Fraumeni syndrome

A

TP53 (genomic stability)

163
Q

Retinoblastoma

Osteosarcoma

A

RB (G1/S transition inhibitor)

164
Q

Wilms tumor

A

WT1 (Urogenital differentiation)

165
Q

Renal cell carcinoma

Von Hippel Lindau syndrome

A

VHL (ubiquitin ligase component)

166
Q

Consolidation

A

Increased breath sounds
Increased fremitus
Dullness to percussion

167
Q

Pleural effusion

A

Decreased or absent breath sounds
Decreased tactile fremitus
Dullness to percussion

168
Q

Pneumothorax

A

Decreased or absent breath sounds
Decreased tactile fremitus
Hyper resonance to percussion

169
Q

Atelectasis

A

Decreased or absent breath sounds
Decreased tactile fremitus
Dullness to percussion

STEP RAPID REVIEW (1 decks)

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