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NBME 15 Flashcards

1
Q

Dullness to percussion, decreased breath sounds, decreased fremitus; tracheal deviation away from side of lesion if large enough

A

Pleural Effusion

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2
Q

Decreased breath sounds, dullness to percussion, decreased tactile fremitus; Tracheal deviation toward lesion

A

Atelectasis (bronchial obstruction)

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3
Q

Decreased breath sounds, hyper-resonant to percussion, decreased tactile fremitus

A

Simple Pneumothorax

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4
Q

Decreased breath sounds, hyper-resonant to percussion, decreased tactile remits, tracheal deviation away from side of lesion

A

tension pneumothorax

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5
Q

Bronchial breath sounds, late inspiratory crackles, egophony, whispered pectoriloquy, dullness to percussion, increased tactile remits

A

Consolidation

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6
Q

micrognathia (jaw is undersize), glossoptosis, cleft palate, airway obstruction

A

Pierre Robin Sequence 1st branchial Arch Abnormality (All the M’s: Maxillary process, zygomatic bone, Mandibular process, Meckel Cartilage, Manidible, malleus, incus, sphenomandibular ligament; Muscles of Masstication (temporals, master, lateral and medial pterygoid), anterior belly of the digastric, tensor tympani, anterior 2/3 of tongue, tensor veli palatini

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7
Q

Mandibular hypoplasia, facial abnormalities

A

Treacher Collins- Neural Crest Dysfunction that leads to 1st branchial arch derivative issues. M’s: Maxillary process, zygomatic bone, Mandibular process, Meckel Cartilage, Manidible, malleus, incus, sphenomandibular ligament; Muscles of Masstication (temporals, master, lateral and medial pterygoid), anterior belly of the digastric, tensor tympani, anterior 2/3 of tongue, tensor veli palatini

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8
Q

facial, palate, and cardiac defects

A

Velocardiofacial Syndrome: 22q11 deletion

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9
Q

Cleft palate, Abnormal facies, Thymic aplasia, Hypocalcemia

A

DiGeorge; 22q11 deletion; branchial pouch derivatives 3 and 4.

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10
Q

Failure of fusion of the maxillary and merged medial nasal prominences

A

cleft lip

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11
Q

Failure of fusion of the two lateral palatine shelves or failure of fusion of the two lateral palatine shelves with the nasal septum and/or median palatine shelf

A

Cleft Palate

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12
Q

autosomal Dominant, seizures, mitral regurg, mental retardation, angiofibromas, hamartomas of the CNS, angiolipomas, shagreen patches, ash leaf spots, bumps around the nose rhabdomyoma

A

Tuberous sclerosis

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13
Q

Tumor suppressor gene and function associated with Tuberous Sclerosis

A

TSC1 (Hamartin protein) on Chromosome 9 or TSC2 (tuberin protein) on Chromosome 16

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14
Q

telangectasias, blanching of skin and mucus membranes, recurrent epistaxis, AV malformations, GI bleeding and hematuria

A

Osler Weber Rendu Syndrome/ Hereditary Hemorrhagic telangiectasia- thin walled blood vessels

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15
Q

Fat with osseous and soft tissue tumors, congenital hypertrophy of retina pigment epithelium, impacted supernumerary teeth

A

Gardner Syndrome

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16
Q

FAP or lynch with CNS tumors like medulloblastoma or glioma

A

Turcot Syndrome

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17
Q

Numerous hamartomas of the GI tract along with a hyperpigented mouth, lips, hands, genitalia; associated with increased risk of GI cancers (Colorectal, stomach, small bowel, pancreatic)

A

Peutz- Jeghers Syndrome- Autosomal Dominant

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18
Q

Numerous hamartomatous polyps in children under the age of 5, in the colon, stomach and small bowel

A

Juvenile Polyposis Syndrome

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19
Q

What organ has the highest o2 extraction

A

heart

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20
Q

Aspirin OD is most likely to cause what changes to labs

A

Increased Bleeding time because its an anti-platelet

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21
Q

DNA mutation leading to elongation of trinucleotide repeats

A

Slipped strand mutation

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22
Q

Segment of DNA that can jump from one location into a target site; mechanism of anti-biotic resistance across species

A

Transposition.

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23
Q

Neural crest cell Derivatives

A

Parafollicular cells that secrete calcitonin, Adrenal Medulla (Chromafin cells), PNS neurons, Schwann cells, Pia mater, Arachnoid mater, endocardial cushions (Tetrology of fallout, transposition of the great vessels, Patent trunks arteriosus), Odontoblasts, bones of skull, melanocytes

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24
Q

RET mutation arises in what cells giving rise to what

A

Arises in neural crest cells and is related to pheochromocytoma and neuroblastoma; hirschsprung disease too

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25
Q

Congenital, non-inherited (sporadic), developmental anomaly of neural crest cell derivatives due to somatic mosaicism for an activating mutation in one copy of the GNAQ gene

A

Sturge Weber Syndrome

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26
Q

port-wine stain (nevus flames) on V1 and V2 distribution, ipsilateral leptomeningeal angioma causing seizures or epilepsy; intellectual disability and episcleral hemangioma causing increased interocular pressure leading to early onset glaucoma

A

Sturge Weber Syndrome; syndrome that affects small, capillary sized blood vessels.

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27
Q

Cafe- au last spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, litchi nodules (pigmented iris hamartomas)

A

NF 1 (TS gene)

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28
Q

Mutation associated with NF1

A

on chromosome 17; mutation in neurofibromin, a negative regulator of RAS

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29
Q

Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas

A

NF2

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30
Q

Mutation associated with NF2

A

NF2 ts gene on chromosome 22

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31
Q

hemangioblastomas in retina, brain stem, cerebellum, spine; angiomatosis (cavernous hemangioma in skin, mucosa, organs); bilateral renal cell carcinoma, pheochromocytomas

A

VHL

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32
Q

Mutation associated with VHL

A

Chromosome 3; Autosomal Dominant; pVHL ubiquitinates HIF-1a. HIF is only highly expressed under hypoxic conditions + cellular proliferation promoting cancer

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33
Q

Patient with the same genotype have varying phenotypes the variation must be expressed- Like patient A is less blue than patient B but has an identical genotype

A

Variable expressivity.

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34
Q

Not all patients with a mutant genotype SHOW the mutant phenotype; consider a disease that shows an autosomal dominant inheritance pattern, where the mother of the offspring has a history of disease on her side of the family, she doesn’t show the phenotype, but her offspring does

A

Incomplete penetrance.

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35
Q

One gene contributes to multiple phenotypic effects

A

pleiotropy

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36
Q

A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

A

Dominant negative mutation

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37
Q

Mutation that arises from mitotic errors after fertilization and propagates through multiple tissues

A

Somatic mosaicism

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38
Q

mutation only in effect or sperm cells; suspect if parents do not have disease

A

gremlin mosaicism

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39
Q

Example of a mutation a different loci that can produce a similar phenotype

A

Albinism- called locus heterogeneity

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40
Q

Different mutations in the same locus that produce the same phenotype

A

Beta thalassema- Allelic heterogeneity

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41
Q

Presence of normal and mutated mtDNA, resulting in variable expression in mito inherited disease

A

Heteroplasmy

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42
Q

Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other; HeterodIsomy indicates a miosis I error; Isodisomy (homozygous) indicates a meiosis II error.

A

Uniparental disomy

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43
Q

Prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists, low set ears, micrognathia, congenital heart disease; death by age 1

A

Edwards Syndrome (T18)

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44
Q

Severe intellectual disability, rocker-bottom feet, micropthalmia, microcephaly, cleft lip/ palate, holoproscencephaly, polydactyly, cutis aplasia, congenital heart disease, PCKD, death by age 1

A

Patau Syndrome (T13)

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45
Q

Lipid soluble hormones

A

Thyroid hormone (acts like steroid), steroid hormones (androgens, mineralocorticoids, etc) fat soluble vitamins

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46
Q

Lesion that causes pie in the sky (left upper quandratopia)

A

lesion of Meyer’s Loop in the temporal Lobe

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47
Q

Lesion that causes pie on the floor left lower quadrantopia)

A

lesion in optic radiation- right parietal lobe `

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48
Q

increased PTH, low Ca2+, decreased serum PO4; hyperactivity of osteoblasts–> Increased ALP

A

Osteomalacia, rickets in children

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49
Q

IgM antibody that targets IgG Fc region

A

Rheumatoid Factor–> RA

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50
Q

Anti-citrullinated peptide antibody

A

RA

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51
Q

Anti-Beta2 glycoprotein

A

Anti-phospholipid Syndrome

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52
Q

Anticardiolipin

A

SLE

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53
Q

AntidsDNA, Anti-Smith

A

SLE

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54
Q

Anti-histone Antibody

A

Drug induced lupus

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55
Q

Anti-U1 RNP (ribonucleotide protein)

A

Mixed CT disease

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56
Q

Anti-Ro/SSA, Anti-La/SSb

A

Sjorgens

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57
Q

Anti-Scl70/ Anti-DNA Topoisomerase I

A

Scleroderma

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58
Q

Anticentromere

A

CREST syndrome

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59
Q

IgA anti-endomysial, IgA Anti-tissue transglutaminase, IgA and IgG Deaminated Gliadin Peptide

A

Celiac Disease

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60
Q

Anti-Phospholipase A2

A

Primary Membranous Nephropathy

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61
Q

PR3-ANCA/c-ANCA

A

Wegner’s Granulomatosis

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62
Q

Anti-desmoglein

A

Pemphgoid vulgaris

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63
Q

Anti-hemidesmosomes

A

Bullous Pemphigoid

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64
Q

most infectious agents in aspiration pneumonia associated with alcoholism

A

Bacteroides fragilis, peptostrep, fusobacterium

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65
Q

inclusion bodies in fibroblasts, coarse facial features, accumulation of proteins in the Lysosomes

A

I cell disease

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66
Q

Toxin that binds MHC class II and T cell receptors leading to polyclonal T cell activation

A

toxic shock syndrome toxin (TSST-1) of staph aureus

67
Q

Contact dermatitis (poison ivy, nickel allergy), GVHD, PPD, candida extract test, and the patch test are examples of what kind of HS rxn

A

type IV HS rxn

68
Q

Seizure: lip smacking, picking movements of the hand, extension and stiffening of upper extremity; slowly returns to a normal state

A

Complex partial

69
Q

no loss of consciousness or post-ictal state; motor, autonomic or psychic symptoms possible

A

Simple partial

70
Q

Older person with a 2 month history of difficulty walking, urinary incontinence, nystagmus, memory loss, and a broad based gait.

A

Normal pressure hydrocephalus (wet, wobbly, wacky)

71
Q

early changes in personality and behavior or aphasia with associated parkinsonian movement disorder

A

Picks Disease- Frontaltemporal Dementia

72
Q

visual hallucinations, dementia with fluctuating cognition/ alertness, REM sleep behavior disorder, and parkinsonism.; Onset os cognitive and motor symptoms <1 year

A

Lewy body dementia

73
Q

weight loss, fever, arthritis, fever, adenopathy; PAS + Macrophages

A

Whipple disease

74
Q

steatorrhea, fat soluble vitamin deficiency, diabetes mellitus, muscle fiber

A

Pancreatic insufficiency

75
Q

Endoderm derivatives

A

Gut tube epi (including anal canal above the pectinate line), most of urethra and lower vagina (from urogenital sinus), luminal epithelial derivatives (lungs, liver, GB, pancreas, eustachian tube, thymus, parathyroid, thyroid follicular cells)

76
Q

Surface ectoderm derivatives

A

Epidermis, adenohypophysis (rathke’s), lens of the eye, epithelial linings of oral cavity, sensory organs of the ear, olfactory epithelium, anal canal below the pectinate line,; parotid, sweat, and mammary glands.

77
Q

what is lentigo melagna, aural letinginous

A

Type of melanoma

78
Q

Phospholipid content in the amniotic fluid is determined in order to check

A

Lung maturity: lecithin to sphingomyelin ratio is >/2 then the fetal lung is determined mature

79
Q

Abnormal presence of erythroblasts in the blood

A

Erythroblastosis fetalis- hemolytic disease of the newborn

80
Q

Neutrophil chemotactic factor

A

platelet-activating factor (enhances leukocyte adhesion to endothelium), LTB4, C5a, C3a, IL-8, kallikrein

81
Q

conjunctivitis, urethritis, arthritis, sacroilitis, kertoderm blennorrhagioma (hyperkeratoic vesicles on palms and sole)

A

Reative Arthritis

82
Q

Causes of Reactive Arthritis

A

Chlamydia, salmonella, shigella, yersinia, campylobacter, c difficile

83
Q

Symptoms of primary syphillis

A

painless chancre

84
Q

fever, lymphadenopathy, rash on palms and soles, condyloma late

A

secondary syphillis

85
Q

Gummas, tabes dorsalis, general paresis, aortitis, argyll robertson pupils

A

Tertiary syphillis

86
Q

Essential fructosuria and helpful enzyme

A

Deficiency fructokinase; hexokinase shunts fructose to glycolysis

87
Q

hereditary fructose intolerance- deficient enzyme

A

Aldolase B

88
Q

Recurrent infections with catalase positive organisms, decreased DHR green fluorescence and negative nitroblue tetrazolium test

A

NADPH Oxidase Deficiency= Chronic granulomatous disease

89
Q

ovoid cells within macrophages; smaller than RBCs

A

Histoplasma capsulatum

90
Q

Pseudohyphae and blastoconidia

A

Candida

91
Q

multinucleate spherules packed with endospores; Larger than RBCs

A

Coccidiodes

92
Q

fungus with broad based budding acquired in central and eastern US; same size as RBCs

A

Blasto

93
Q

captains wheel, latin america; larger than RBCs

A

paracoccidiomycosis

94
Q

IF showing linear deposits

A

RPGN; Anti-GBM antibodies

95
Q

IF granular deposits with basement membrane splitting

A

MPGN

96
Q

Cytokine that causes proliferation of T cells, B cells, NK cells, monocytes

A

IL-2

97
Q

increased hematocrit with an increase in RBC mass

A

Absolute Erythrocytosis (hypoxia, PV (increase in all 3 cell lines) or secondary erythrocytosis (Elevated Epo levels– High altitude, COP) vs primary which is low EPo levels- PV or myeloproliferative disorder

98
Q

Increased hematocrit with normal RBC mass

A

Relative Erythrocytosis (dehydration, excessive diuresis)

99
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse Friedrich Syndrome

100
Q

skin hyper pigmentation, hypotension, fatigue

A

Addison’s Disease

101
Q

Severe pyogenic infections; opportunistic infections with pneumocystis, cryptosporidium, and CMV

A

Hyper-IgM syndrome; CD40L defect on T cells leading to class switching defect (XR)

102
Q

Child with with dark blood in stool, no abdominal pain or distention; pertechtenate radio tracer test shows increased uptake in the RLQ; can present with pain and intussusception –> currant jelly stools

A

Meckel’s Diverticulum

103
Q

Currant Jelly stools and colicky abdominal pain

A

intussusception

104
Q

Currant jelly Sputum

A

Klebsiella pneumonia

105
Q

autoimmune liver disease characterized by interlobular and intraductal bile ducts by granulomatous inflammation (lymphocytic infiltrate); Insidious pruritus and fatigue in a middle-aged woman

A

Primary Biliary Cirrhosis (Anti-mitochondrial Antibody)

106
Q

Fatigue and high alkaline phosphatase in a middle-aged man with a history of UC; onion skinning bile-duct fibrosis

A

Primary sclerosing Cholangitis (p-ANCA; increased IgM)

107
Q

Cytokines that produce systemic symptoms of inflammation

A

TNF-Alpha, IL-1, IL-6

108
Q

shock associated with increased SVR and decreased cardiac output

A

Cold and Clammy–> Cardiogenic (MI, CHF, arrhythmia, cardiac tamponade, PE) or Hypotensive Shock (blood loss, burns)

109
Q

Shock associated with decreased SVR and Increased CO

A

Septic Shock

110
Q

shock associated with decreased SVR and CO

A

Neurogenic shock

111
Q

Cofactor for carboxylation enzymes

A

Biotin B7

112
Q

slow twitch red fibers with high concentrations of mitochondria and myoglobin (increased oxidative phosphorylation). essential for sustained contraction; increased after endurance training

A

Type I muscle fibers (muscles that have to sustain positions for long periods of time- postural muscles, legs muscles, etc)

113
Q

fast twitch, white fibers with low concentrations of mitochondria and myoglobin (Increase aerobic glycolysis); Proportion increases after weight/ resistance training

A

Type II muscle fibers (deltoids, pecs, biceps, etc)

114
Q

Increased FRC, RV, TLC; very decreased FEV1 and decreased FVC: Decreased FEV/FVC ratio

A

Obstruction Lung Disease

115
Q

Bilateral Radiucular pain, saddle anesthesia, hyporeflexia

A

Cauda equina syndrome

116
Q

What happens to T3, T4 with OCPs, post-menopausal hormone replacement therapy, or in pregnancy

A

Increased total T3/T4: Increase in TBG with estrogen use leads to decreased T3/T4 levels–> Increased TSH (normal levels in post-men women)–> Increased in T3/T4 levels until TBG is saturated.

117
Q

Four reactions for which thiamine (B1) is a Cofactor

A

Pyruvate dehydrogenase (Pyruvate to Acetyl-CoA), Alpha-Ketoglutarate (a-KG to Succinyl-CoA), A-ketoacid Dehydrogenase (Branched Chain Amino acid degradation), Transketolase (R5P–> F6Phosphate)

118
Q

Exposure and outcome measured at the same time

A

Cross-sectional study

119
Q

Flushing, diarrhea, abdominal pain, Pulmonic or tricuspid murmur,

A

carcinoid tumor

120
Q

Stem cells of the lungs

A

Type II pneumocytes

121
Q

greater than one year of one or more motor OR verbal tics, not both

A

Chronic Tic disorder

122
Q

Greater than one year of sudden, rapid, recurrent, nonrhythmic, stereotyped motor AND vocal tics

A

Tourettes syndrome

123
Q

right sides hydrocele is most often related to what type if hernia

A

indirect inguinal hernia

124
Q

MOA of indirect inguinal hernia

A

Originates lateral to the epigastric vessels–> deep inguinal ring–> superficial inguinal ring and protrudes down into the testes because the process vaginalis failed to obliterate allowing access of the bowel all the way down; involves all three layers of the spermatic fascia.

125
Q

Location of direct inguinal hernia and associated defect

A

Occurs due to weakness of the transversals fascia in Hasselbach’s triangle (between inguinal ligament, below the epigastric vessels, and the medial wall is the rectus abdominus) portrudes through the superficial inguinal ring only involving the spermatic fascia.

126
Q

Bowel that herniates below the inguinal ligament through the femoral ring and medial to the femoral vessels

A

Femoral Hernia

127
Q

When and how should mothers who are Rh- be treated when having an Rh+ baby

A

Moms should receive Anti-D IgG in the third trimester or immediately postpartum to prevent formation of maternal Anti-D IgG which can cross the placenta and cause HDN.

128
Q

Antibodies associated with ABO HDN and treatment

A

Anti-B/ Anti-A IgG Antibodies; No treatment for mom, but typically requires phototherapy/ exchange transfusion for the baby

129
Q

severe cardiomegaly, normal glucose levels, heptomegaly, hypotonia, glycogen accumulation in lysosomes

A

Pompe (Acid-Alpha-Glucosidase)

130
Q

Autosomal dominant mutation in Fibroblast growth factor receptor 3 and effects

A

Achondroplasia, limits chondrocyte proliferation; failure of longitudinal bone growth.

131
Q

Defect in aging

A

Collagen fibril production

132
Q

ion channel defect causing prolonged QT syndrome; increased risk of sudden cardiac death- Inheritance Pattern

A

Romano-Ward Syndrome (AD)

133
Q

Congenital prolonged QT, sensorineural hearing loss+ inheritance pattern?

A

Jervell and Lange Nielsen Syndrome (AR)

134
Q

ASD associated with T21

A

osmium primum defect

135
Q

PROV in tetralogy of fallot

A

Pulmonic stenosis, right ventricular hypertrophy, overriding aorta, VSD

136
Q

Risk for transposition of the great vessels

A

Maternal diabetes

137
Q

Failure aorticopulmonary septum to spiral

A

Transposition of the great vessels

138
Q

Failure of the truncus arteriosus to divide

A

Patent Truncus arteriosus (aorta combined with pulmonic valve)

139
Q

rib notching, lower extremity hypotension, with upper extremity hypertension

A

Coarctation of the aorta in an adult

140
Q

Coarctation of the aorta is associated with what genetic syndrome

A

Turner

141
Q

what teratogen causes VSD

A

Alcohol

142
Q

Biggest different between Aortic stenosis caused by age vs chronic rheumatic fever

A

RF will involve the mitral valve and will cause fusion of the valve commissures; AS due to overuse does not present with MV and fusion

143
Q

histological feature of HOCM

A

myofibril disarray

144
Q

Mutation associated with HOCM

A

Sarcomeric proteins like Myosin binding protein C and Beta-myosin

145
Q

low voltage EKG with diminished QRS Amplitude

A

Restrictive Cardiomyopathy

146
Q

Causes of Restrictive Cardiomypathy

A

Puppy LEASH (restrict your puppy) P- post radiation fibrosis, Loffler endocarditis, endocardial fibroelastosis (thick fibroelastic tissue in children), Amyloidosis, Sarcoidosis, Hemochromatosis,

147
Q

Causes of Dilated Cardiomyopathy

A

Alcohol abuse, wet beriberi, coxsackie B myocarditis, chagas disease, doxorubicin, hemochromatosis, sarcoidosis, thyrotoxicosis, permpartum cardiomyopathy

148
Q

heart sound associated with dilated cardiomyopathy

A

S3 (blood fills ventricle, sloshing back and forth)

149
Q

heart sounds associated with HOCM

A

S4 (atrial kick into a thick ventricle)

150
Q

heliotrope rash, grotton nodules, muscle weakness, adenocarcinoma of the ovary

A

Dermatomyositis (CD4+, Perimysial inflammation)

151
Q

Cells involved in forming the fibrous cap in atherosclerosis

A

Smooth muscle cells.

152
Q

High pTH, Shortened 4th and 5th digits, short stature, obesity, developmental delay

A

Pseudohypoparathyrodism Type 1A/ Albright Hereditary Osteodystrophy

153
Q

Mutation associated with Pseudohypoparathyroidism?

A

AD- Gs protein alpha sub unit mutation causing end organ resistance to PTH - Inherited from mom due to imprinting

154
Q

normal PTH, shortened 4th and 5th digits, short stature, obesity, developmental delay

A

Pseudopseudohypoparathyroidism- Same as Gs protein but occurs when defect is inherited from father.

155
Q

cystic bones spaces filled with brown fibrous tissue- due to increased PTH classically associated with Primary hyperparathyroidism

A

Osteitis Fibrosa cystica

156
Q

Defective G coupled Ca2+ sensing receptor in multiple tissues (parathyroid and kidneys)–> Higher Ca2+ levels to suppress PTH; Excessive Ca2+ uptake in kidney, hypercalcemia with hypocalciuria and normal to increased PTh

A

Familial Hypocalciuric Hypercalcemia

157
Q

Enlargement of existing pituitary ACTH secreting tumor after bilateral adrenalectomy for refractory cushing’s disease; hyper pigmentation, headaches, and bitempoeral hemianopsia

A

Nelson syndrome

158
Q

Glans of the clitoris and glans of the penis

A

genital tubercle

159
Q

Corpus cavernosum and spongiosum (male) and the vestibular bulbs in the female

A

genital tubercle

160
Q

Bulbouretheral glands (male) and greater vestibular glands (female)

A

urogenital sinus

161
Q

Prostate gland, urethral and paraurethral glands (female)

A

Urogenital sinus

162
Q

ventral shaft of the penis- urethra, and labia minor

A

urogenital folds

163
Q

scrotum, labia major

A

labioscrotal swelling

164
Q

aphthous ulcer, genital ulcerations, uveitis, erythema nodosum; precipitated by HSV or Parvovirus and lasts 1-4 weeks

A

Behcet Syndrome; Small vessel vasculitide the is immune complex based and associated with HLA B51

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