Rapid Facts Flashcards

1
Q

Abdominal Pain, ascites, hepatomegaly

A

Budd-Chiari Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C.Diff Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (Decreased LDL receptor signaling)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse Friderichsen Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Anterior drawer sign

A

Anterior cruciate ligament injury

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

Marfan Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Athlete with polycythemia

A

Secondary to erythropoietin injection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Back pain, fever, night sweats

A

Pott Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis Type 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Black eschar on face of patient with DKA

A

Mucor or Rhizopus fungal infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Blue sclera

A

Osteogenesis imperfecta (type 1 collagen defect)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Bone pain, bone enlargement, arthritis

A

Paget disease of bone (increase osteoblastic and osteoclastic activity)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

Aortic Regurgitation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Butterfly Facial Rash and Raynaud phenomenon in a young female

A

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

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

A

Neurofibromatosis Type 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Cafe au lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (g-protein signaling mutation)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Calf pseudohypertrophy

A

Muscular dystrophy - Duchenne

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

Kawasaki Disease (Treat with IVIG and ASA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Cherry-red Spots on Macula

A

Tay-Sachs, Niemann-Pick, central retinal artery occlusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Chest POE

A

Angina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

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

A

Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis - 2wks to several months s/p MI)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Chest pain with ST depression on ECG

A

Unstable angina (- troponins) or NSTEMI (+ troponins)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy - Gowers sign

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

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

A

Parvovirus B19 - Fifth’s Disease/Erythema infectiosum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (CAG repeat expansion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital Toxoplasmosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

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

A

McArdle Disease (skeletal muscle glycogen phosphorylase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Cold intolerance

A

Hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Damage to MLF - Intranuclear opthalmoplegia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Continuous machine like heart murmur

A

PDA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedema (hypothryoidism, Graves disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Dark purple skin/mouth nodules in patient with AIDS

A

Kaposi sarcoma - HHV-8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Deep, labored breathing/hyperventilation

A

DKA (Kussmaul respirations)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin Vitamin B3 deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Dilated cardiomyopathy, edema, alcoholism, malnutrition

A

Wet Berberi (B1 deficiency - Thiamine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Dysphagia, esophageal webs, glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Elastic skin, hypermobility of joints, increased bleeding tendency

A

Ehlers-Danos syndrome (Type V collagen defect, type III collagen defect seen in vascular subtype)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Enlarged, hard left supraclavicular node

A

Virchow node

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides ((T-Cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Fat, female, forty, and fertile

A

Cholelithiasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

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

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Golden brown rings around peripheral cornea

A

Wilson Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Gout, intellectual disability, self-mutilating behavior in boy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

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

A

Gaucher disease (glucocerebrosidase deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Calcineurin inhibitor binds cyclophilin. Blocks T cell activation by preventing IL 2 transcription

A

cyclosporine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

calcineurin inhibitor, binds FK506 binding protein FKBP. Blocks T cell activation by preventing IL 2 transcription

A

Tacrolimus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

mTOR inhibitor binds FKBP. Blocks T cell activation and B cell differentiation by preventing response to IL2.

A

Sirolimus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Monoclonal antibodies block IL2R

A

Daclizumab, basiliximab

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Antimetabolite precursor of 6 mercaptopurine. Inhibits lymphocyte proliferation by blocking nucleotide synthesis

A

Azathioprine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Inheritance pattern and gene mutation for Duchenne Muscular Dystophy

A

X linked recessive, frameshift or nonsense mutation –> truncated dystrophin protein –> inhibited muscle regeneration (helps anchor muscle fibers)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Inhibit NFKB Suppress both B and T cell function by decreasing transcription of many cytokines. Induces apoptosis of T lymphocytes

A

Corticosteroids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Name the uses for Aldesleukin (IL2)

A

Renal cell carinoma, metastatic melanoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Name the use for epoetin alfa (EPO)

A

Anemia (especially in renal failure)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Name the use for filgrastim (G-CSF)

A

Recovery of bone marrow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Name the use for Sargramostim (GM-CSF)

A

Recovery of bone marrow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Name the use of IFN alpha

A

chronic hepatitis B and C, kaposi sarcoma, malignant melanoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Name the use of IFN beta

A

MS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

Name the use of IFN gamma

A

CGD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Name the use of Romiplostim, eltrombopag (thrombopoietin receptor agonists)

A

Thrombocytopenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Name the use of Oprelveskin (IL- 11)

A

Thrmobocytopenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Hereditary pattern and gene mutation associated with Cystic Fibrosis

A

Autosomal recessive, defect of CFTR gene on Chr. 7, most commonly a deletion of F508

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Recurrent pulmonary infection, reticulonodular pattern on Xray, pancreatic insufficiency, malabsorption, liver disease, nasal polyps, clubbing

A

Cystic Fibrosis

75
Q

Most common causes of pulmonary infection in CF patients

A

infancy - S. Aureus, adolescence - P. Aeruginosa

76
Q

Hyperammonia, low urea, low citruline, high orotic acid ataxia, lethargy in an infant

A

Ornithine transcarbamylase deficiency (x linked recessive)

77
Q

Eczema, thrombocytopenia, immune deficiency, blood diarrhea

A

Wiscott-Aldrich Syndrome (x linked recessive, WASP gene)

78
Q

Inheritance pattern and gene mutation for Duchenne Muscular Dystophy

A

X linked recessive, frameshift or nonsense mutation –> truncated dystrophin protein –> inhibited muscle regeneration

79
Q

Pelvic girdle weakness, Gower maneuver, waddling gait, dilated cardiomyopathy in a child

A

Muscular Dystrophy

80
Q

Intellectual disability, macroorchidism, large jaw, large everted ears, autism, mitral valve prolapse

A

Fragile X Syndrome

81
Q

Inheritance pattern and gene mutation for Fragile X

A

X linked dominant, FMRI trinucleotide repeat –>results in gene methylation and decreased expression.

82
Q

Intellectual disability, flat facies, prominent epicanthal folds, single palmar crease

A

Down Syndrome (Trisomy 21)

83
Q

Diseases people with Down Syndrome are at risk for

A

Duodenal atresia, ASD, Hirschsprung disease, Alzheimer Disease

84
Q

Prenatal findings of nuchal translucency and hypoplastic nasal bone, high B HCG, low alpha fetoprotein

A

Down Syndrome

85
Q

Severe intellectual disability, rocker bottom feet, micrognathia, low set ears, clenched hands with overlapping fingers, congenital heart disease

A

Edwards Syndrome (Trisomy 18)

86
Q

Severe intellectual disability, rocker bottom feet, microopthalmia, microcephaly, cleft lip and palate, holoproencephaly, polydactyly, cutis aplasia, cyclopia

A

Patau Syndrome (Trisomy 13)

87
Q

Translocation of two long arms of 2 acrocentric chromosomes fuse at the centromere and the two short arms are lost

A

Robertsonian Translocation

88
Q

Microcephaly, severe intellectual disability, high pitched cry, epicanthal folds, cardiac abnormalities (VSD)

A

Cri-du-Chat Syndrome

89
Q

Genetic cause of Cri-du-Chat Syndrome

A

Microdeletion of short arm of Chr 5

90
Q

elfin facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems

A

Williams Syndrome (microdeletion of long arm of Chr. 7)

91
Q

Cleft palate, abnormal facies, thymic aplasia (T cell deficiency), cardiac defects, hypocalcemia, parathryoid aplasia

A

DiGeorge Syndrome (22q11 deletion)

92
Q

Etiology of DiGeorge Syndrome

A

Microdeletion of 22q11 - aberrant development of 3rd and 4th pharyngeal pouch

93
Q

Fat soluble vitamins

A

A-D-E-K

94
Q

Purpose of the carnitine shuttle

A

Degradation of long chain fatty acids

95
Q

Purpose of the citrate shuttle

A

Synthesis of fatty acids. Citrate from mito to cytosol.

96
Q

Bacteria with a positive silver stain

A

Legionella, H pylori

97
Q

Process of bacterial uptake of naked DNA

A

Bacterial transformation

98
Q

Bacteria exchanging a plasmid with another bacteria through the use of a sex pillus

A

Bacterial conjugation

99
Q

Segment of DNA from one area moves from one location in the genome to another in a bacterial genome

A

Gene transposition

100
Q

Lytic phage injects DNA into a bacterium and it is taken up into the genome

A

Transduction

101
Q

Elevated during the infectious phase of Hepatitis B infection

A

HBeAg

102
Q

Cannot be detected during the window period of a hepatitis B infection

A

HBsAg, Anti-HbS, HbeAg

103
Q

Can be detected during the window period of a hepatitis B infection

A

Anti-Hbe, Anti-HbC IgM

104
Q

Can be detected in persons who have been immunized against Hepatitis B

A

Anti-HbS only

105
Q

Penicillins - mechanism of resistance

A

Penicillinase cleaves the b-lactam ring (a type of b lactamase)

106
Q

Cephalosporins - mechanism of resistance

A

Structural changes in the penicillin binding proteins (PBPs)

107
Q

Vancomycin - mechanism of resistance

A

Amino acid modifications - D-ala D-ala to D-ala D-lac

108
Q

Aminoglycosides - mechanism of resistance

A

Bacterial transferase enzymes inactive the drug by acetylation, phosphorylation, or adenylation

109
Q

Tetracyclines - mechanism of resistance

A

Decreased uptake transporter pumps or increased efflux transporter pumps in bacterial cell. Encoded on plasmids.

110
Q

Chloramphenicol - mechanism of resistance

A

plasmid encoded acetyltransferase inactivates the srug

111
Q

Oxazolidinones (linezolid) - mechanism of resistance

A

point mutation of ribosomal RNA

112
Q

Macrolides - mechanism of resistance

A

methylation of 23s rRNA-binding site preventing the binding of the drug

113
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport Syndrome (mutation in collagen IV)

114
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy Syndrome (Bilateral amygdala lesion)

115
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN damage

116
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

117
Q

Hypoexmia, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells - blue bloater)

118
Q

Indurated, ulcerated genital lesion

A

Nonpainful (chancre - Syphilis, Treponema pallidum) Painful, with exudate (chancroid (Haemophilus ducreyi)

119
Q

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

A

Patau syndrome (Trisomy 13)

120
Q

Infant with hypoglycemia, hepatomegaly

A

Cori Disease (debranching enzyme deficiency) or Von Gierke (Glucose 6 phosphotase)

121
Q

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

A

Edwards Syndrome (Trisomy 18)

122
Q

Jaundice, palpable distended non tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

123
Q

Large rash with bull eye’s appearance

A

Erythema chronicum migrans (Lyme Disease)

124
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

125
Q

Male child, recurrent infection, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

126
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (GpIIb/IIIa)

127
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck’s Triad - Cardiac Tamponade

128
Q

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

A

Gardner Syndrome (FAP)

129
Q

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal alpha 1,4-glucosidace deficiency)

130
Q

Neonate with arm paralysis following a difficult birth

A

Erb Duchenne palsy (superior trunk C5-C6 brachial plexus injury - waiter tip)

131
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

132
Q

Nystagmus, intension tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

MS

133
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (AIHA caused by mycoplasma pneumoniae, infectious mono, CLL)

134
Q

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

A

Raynaud phenomenon

135
Q

Painful, raised red lesions on pads or fingers /toes

A

Osler nodes (infective endocarditis, immune complex deposition)

136
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli)

137
Q

Painless Jaundice

A

Pancreatic cancer (head obstructing bile duct)

138
Q

palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria

A

Henoch-Schonlein purpura (IgA vasculitis)

139
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1

140
Q

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

A

Nephrotic syndrome

141
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (pink-puffer) Due to smoking (centriacinar) or panacrinar (a1-antrypsin deficiency)

142
Q

Polyuria, renal tubular acidosis type II (PCT), growth failure, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi Syndrome

143
Q

Pyruitic, purple, polygonal planar papules and plaques

A

Lichen planus

144
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain)

145
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis (argyll Robertson pupil)

146
Q

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

A

Guillain-Barre syndrome

147
Q

Rash on palms and soles

A

Coxsackie A, Secondary Syphilis, Rocky Mountain spotted fever

148
Q

Recurrent cold abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

149
Q

Red currant jelly sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae pneumonia

150
Q

Red currant jelly stools

A

Acute mesenteric ischemia (adults) and intussusception (children)

151
Q

red, itchy, swollen rash of nipple/areola

A

Paget disease of breast

152
Q

red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

153
Q

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

A

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

154
Q

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

A

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

155
Q

retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

156
Q

Severe jaundice in neonate - fatal

A

Crigler-Najjar syndrome (UDP deficiency)

157
Q

Severe RLQ pain with palpation of LLQ

A

Rovsin sign (acute appendicitis)

158
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

159
Q

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

A

Fanconi anemia (genetic loss of DNA crosslink repair, progresses to AML)

160
Q

Single palmar crease

A

Down Syndrome

161
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

162
Q

skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (Addison Disease)

163
Q

slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin)

164
Q

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

A

Koplik Spots

165
Q

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

A

Condylomata lata (Syphilis - Secondary)

166
Q

Splinter hemorrhage in fingernails

A

Bacterial endocarditis

167
Q

Strawberry tongue

A

Kawasaki Disease, Scarlet Fever

168
Q

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

A

Turner (XO)

169
Q

Sudden swollen/painful big toe join, tophi

A

Gout

170
Q

Swollen, hard, painful, finger joints

A

Osteoarthritis (osteophytes on PIP - Bouchard nodes, DIP - Heberden nodes)

171
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

172
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic Stenosis

173
Q

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

A

Osler-Weber-Rendu syndrome

174
Q

Thyroid, parathyroid tumors, pheochromocytoma

A

MEN2A (RET)

175
Q

Thyroid, ganglioneuromatosis, pheochromocytoma

A

MEN2B (RET)

176
Q

Toe extension/fanning upon plantar scrape

A

Babinkski Sign

177
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis, associated with HLAB27

178
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve palsy. UMN lesions spare forehead

179
Q

Vascular birthmark (port-wine stain on face)

A

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

180
Q

Vomiting blood following gastroesophageal laceration

A

Mallory-Weiss syndrome (alcoholics and bulimic)

181
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple’s Disease

182
Q

Worst headache of my life

A

Subarachnoid hemorrhage

183
Q

Cystathionine Beta Synthase Deficiency

A

CBS converts homocysteine to cystathionine. Deficiency leads to homocysteine build up resulting in vessel thrombosis, mental retardation, lens discoloration, and long slender fingers.