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
2
Q
Decreased breath sounds, dullness to percussion, decreased tactile fremitus; Tracheal deviation toward lesion
A
Atelectasis (bronchial obstruction)
3
Q
Decreased breath sounds, hyper-resonant to percussion, decreased tactile fremitus
A
Simple Pneumothorax
4
Q
Decreased breath sounds, hyper-resonant to percussion, decreased tactile remits, tracheal deviation away from side of lesion
A
tension pneumothorax
5
Q
Bronchial breath sounds, late inspiratory crackles, egophony, whispered pectoriloquy, dullness to percussion, increased tactile remits
A
Consolidation
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
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
8
Q
facial, palate, and cardiac defects
A
Velocardiofacial Syndrome: 22q11 deletion
9
Q
Cleft palate, Abnormal facies, Thymic aplasia, Hypocalcemia
A
DiGeorge; 22q11 deletion; branchial pouch derivatives 3 and 4.
10
Q
Failure of fusion of the maxillary and merged medial nasal prominences
A
cleft lip
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
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
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
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
15
Q
Fat with osseous and soft tissue tumors, congenital hypertrophy of retina pigment epithelium, impacted supernumerary teeth
A
Gardner Syndrome
16
Q
FAP or lynch with CNS tumors like medulloblastoma or glioma
A
Turcot Syndrome
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
18
Q
Numerous hamartomatous polyps in children under the age of 5, in the colon, stomach and small bowel
A
Juvenile Polyposis Syndrome
19
Q
What organ has the highest o2 extraction
A
heart
20
Q
Aspirin OD is most likely to cause what changes to labs
A
Increased Bleeding time because its an anti-platelet
21
Q
DNA mutation leading to elongation of trinucleotide repeats
A
Slipped strand mutation
22
Q
Segment of DNA that can jump from one location into a target site; mechanism of anti-biotic resistance across species
A
Transposition.
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
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
25
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
Sturge Weber Syndrome
26
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
Sturge Weber Syndrome; syndrome that affects small, capillary sized blood vessels.
27
Cafe- au last spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, litchi nodules (pigmented iris hamartomas)
NF 1 (TS gene)
28
Mutation associated with NF1
on chromosome 17; mutation in neurofibromin, a negative regulator of RAS
29
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
NF2
30
Mutation associated with NF2
NF2 ts gene on chromosome 22
31
hemangioblastomas in retina, brain stem, cerebellum, spine; angiomatosis (cavernous hemangioma in skin, mucosa, organs); bilateral renal cell carcinoma, pheochromocytomas
VHL
32
Mutation associated with VHL
Chromosome 3; Autosomal Dominant; pVHL ubiquitinates HIF-1a. HIF is only highly expressed under hypoxic conditions + cellular proliferation promoting cancer
33
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
Variable expressivity.
34
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
Incomplete penetrance.
35
One gene contributes to multiple phenotypic effects
pleiotropy
36
A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
Dominant negative mutation
37
Mutation that arises from mitotic errors after fertilization and propagates through multiple tissues
Somatic mosaicism
38
mutation only in effect or sperm cells; suspect if parents do not have disease
gremlin mosaicism
39
Example of a mutation a different loci that can produce a similar phenotype
Albinism- called locus heterogeneity
40
Different mutations in the same locus that produce the same phenotype
Beta thalassema- Allelic heterogeneity
41
Presence of normal and mutated mtDNA, resulting in variable expression in mito inherited disease
Heteroplasmy
42
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.
Uniparental disomy
43
Prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists, low set ears, micrognathia, congenital heart disease; death by age 1
Edwards Syndrome (T18)
44
Severe intellectual disability, rocker-bottom feet, micropthalmia, microcephaly, cleft lip/ palate, holoproscencephaly, polydactyly, cutis aplasia, congenital heart disease, PCKD, death by age 1
Patau Syndrome (T13)
45
Lipid soluble hormones
Thyroid hormone (acts like steroid), steroid hormones (androgens, mineralocorticoids, etc) fat soluble vitamins
46
Lesion that causes pie in the sky (left upper quandratopia)
lesion of Meyer's Loop in the temporal Lobe
47
Lesion that causes pie on the floor left lower quadrantopia)
lesion in optic radiation- right parietal lobe `
48
increased PTH, low Ca2+, decreased serum PO4; hyperactivity of osteoblasts--> Increased ALP
Osteomalacia, rickets in children
49
IgM antibody that targets IgG Fc region
Rheumatoid Factor--> RA
50
Anti-citrullinated peptide antibody
RA
51
Anti-Beta2 glycoprotein
Anti-phospholipid Syndrome
52
Anticardiolipin
SLE
53
AntidsDNA, Anti-Smith
SLE
54
Anti-histone Antibody
Drug induced lupus
55
Anti-U1 RNP (ribonucleotide protein)
Mixed CT disease
56
Anti-Ro/SSA, Anti-La/SSb
Sjorgens
57
Anti-Scl70/ Anti-DNA Topoisomerase I
Scleroderma
58
Anticentromere
CREST syndrome
59
IgA anti-endomysial, IgA Anti-tissue transglutaminase, IgA and IgG Deaminated Gliadin Peptide
Celiac Disease
60
Anti-Phospholipase A2
Primary Membranous Nephropathy
61
PR3-ANCA/c-ANCA
Wegner's Granulomatosis
62
Anti-desmoglein
Pemphgoid vulgaris
63
Anti-hemidesmosomes
Bullous Pemphigoid
64
most infectious agents in aspiration pneumonia associated with alcoholism
Bacteroides fragilis, peptostrep, fusobacterium
65
inclusion bodies in fibroblasts, coarse facial features, accumulation of proteins in the Lysosomes
I cell disease
66
Toxin that binds MHC class II and T cell receptors leading to polyclonal T cell activation
toxic shock syndrome toxin (TSST-1) of staph aureus
67
Contact dermatitis (poison ivy, nickel allergy), GVHD, PPD, candida extract test, and the patch test are examples of what kind of HS rxn
type IV HS rxn
68
Seizure: lip smacking, picking movements of the hand, extension and stiffening of upper extremity; slowly returns to a normal state
Complex partial
69
no loss of consciousness or post-ictal state; motor, autonomic or psychic symptoms possible
Simple partial
70
Older person with a 2 month history of difficulty walking, urinary incontinence, nystagmus, memory loss, and a broad based gait.
Normal pressure hydrocephalus (wet, wobbly, wacky)
71
early changes in personality and behavior or aphasia with associated parkinsonian movement disorder
Picks Disease- Frontaltemporal Dementia
72
visual hallucinations, dementia with fluctuating cognition/ alertness, REM sleep behavior disorder, and parkinsonism.; Onset os cognitive and motor symptoms <1 year
Lewy body dementia
73
weight loss, fever, arthritis, fever, adenopathy; PAS + Macrophages
Whipple disease
74
steatorrhea, fat soluble vitamin deficiency, diabetes mellitus, muscle fiber
Pancreatic insufficiency
75
Endoderm derivatives
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
Surface ectoderm derivatives
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
what is lentigo melagna, aural letinginous
Type of melanoma
78
Phospholipid content in the amniotic fluid is determined in order to check
Lung maturity: lecithin to sphingomyelin ratio is >/2 then the fetal lung is determined mature
79
Abnormal presence of erythroblasts in the blood
Erythroblastosis fetalis- hemolytic disease of the newborn
80
Neutrophil chemotactic factor
platelet-activating factor (enhances leukocyte adhesion to endothelium), LTB4, C5a, C3a, IL-8, kallikrein
81
conjunctivitis, urethritis, arthritis, sacroilitis, kertoderm blennorrhagioma (hyperkeratoic vesicles on palms and sole)
Reative Arthritis
82
Causes of Reactive Arthritis
Chlamydia, salmonella, shigella, yersinia, campylobacter, c difficile
83
Symptoms of primary syphillis
painless chancre
84
fever, lymphadenopathy, rash on palms and soles, condyloma late
secondary syphillis
85
Gummas, tabes dorsalis, general paresis, aortitis, argyll robertson pupils
Tertiary syphillis
86
Essential fructosuria and helpful enzyme
Deficiency fructokinase; hexokinase shunts fructose to glycolysis
87
hereditary fructose intolerance- deficient enzyme
Aldolase B
88
Recurrent infections with catalase positive organisms, decreased DHR green fluorescence and negative nitroblue tetrazolium test
NADPH Oxidase Deficiency= Chronic granulomatous disease
89
ovoid cells within macrophages; smaller than RBCs
Histoplasma capsulatum
90
Pseudohyphae and blastoconidia
Candida
91
multinucleate spherules packed with endospores; Larger than RBCs
Coccidiodes
92
fungus with broad based budding acquired in central and eastern US; same size as RBCs
Blasto
93
captains wheel, latin america; larger than RBCs
paracoccidiomycosis
94
IF showing linear deposits
RPGN; Anti-GBM antibodies
95
IF granular deposits with basement membrane splitting
MPGN
96
Cytokine that causes proliferation of T cells, B cells, NK cells, monocytes
IL-2
97
increased hematocrit with an increase in RBC mass
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
Increased hematocrit with normal RBC mass
Relative Erythrocytosis (dehydration, excessive diuresis)
99
Adrenal hemorrhage, hypotension, DIC
Waterhouse Friedrich Syndrome
100
skin hyper pigmentation, hypotension, fatigue
Addison's Disease
101
Severe pyogenic infections; opportunistic infections with pneumocystis, cryptosporidium, and CMV
Hyper-IgM syndrome; CD40L defect on T cells leading to class switching defect (XR)
102
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
Meckel's Diverticulum
103
Currant Jelly stools and colicky abdominal pain
intussusception
104
Currant jelly Sputum
Klebsiella pneumonia
105
autoimmune liver disease characterized by interlobular and intraductal bile ducts by granulomatous inflammation (lymphocytic infiltrate); Insidious pruritus and fatigue in a middle-aged woman
Primary Biliary Cirrhosis (Anti-mitochondrial Antibody)
106
Fatigue and high alkaline phosphatase in a middle-aged man with a history of UC; onion skinning bile-duct fibrosis
Primary sclerosing Cholangitis (p-ANCA; increased IgM)
107
Cytokines that produce systemic symptoms of inflammation
TNF-Alpha, IL-1, IL-6
108
shock associated with increased SVR and decreased cardiac output
Cold and Clammy--> Cardiogenic (MI, CHF, arrhythmia, cardiac tamponade, PE) or Hypotensive Shock (blood loss, burns)
109
Shock associated with decreased SVR and Increased CO
Septic Shock
110
shock associated with decreased SVR and CO
Neurogenic shock
111
Cofactor for carboxylation enzymes
Biotin B7
112
slow twitch red fibers with high concentrations of mitochondria and myoglobin (increased oxidative phosphorylation). essential for sustained contraction; increased after endurance training
Type I muscle fibers (muscles that have to sustain positions for long periods of time- postural muscles, legs muscles, etc)
113
fast twitch, white fibers with low concentrations of mitochondria and myoglobin (Increase aerobic glycolysis); Proportion increases after weight/ resistance training
Type II muscle fibers (deltoids, pecs, biceps, etc)
114
Increased FRC, RV, TLC; very decreased FEV1 and decreased FVC: Decreased FEV/FVC ratio
Obstruction Lung Disease
115
Bilateral Radiucular pain, saddle anesthesia, hyporeflexia
Cauda equina syndrome
116
What happens to T3, T4 with OCPs, post-menopausal hormone replacement therapy, or in pregnancy
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
Four reactions for which thiamine (B1) is a Cofactor
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
Exposure and outcome measured at the same time
Cross-sectional study
119
Flushing, diarrhea, abdominal pain, Pulmonic or tricuspid murmur,
carcinoid tumor
120
Stem cells of the lungs
Type II pneumocytes
121
greater than one year of one or more motor OR verbal tics, not both
Chronic Tic disorder
122
Greater than one year of sudden, rapid, recurrent, nonrhythmic, stereotyped motor AND vocal tics
Tourettes syndrome
123
right sides hydrocele is most often related to what type if hernia
indirect inguinal hernia
124
MOA of indirect inguinal hernia
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
Location of direct inguinal hernia and associated defect
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
Bowel that herniates below the inguinal ligament through the femoral ring and medial to the femoral vessels
Femoral Hernia
127
When and how should mothers who are Rh- be treated when having an Rh+ baby
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
Antibodies associated with ABO HDN and treatment
Anti-B/ Anti-A IgG Antibodies; No treatment for mom, but typically requires phototherapy/ exchange transfusion for the baby
129
severe cardiomegaly, normal glucose levels, heptomegaly, hypotonia, glycogen accumulation in lysosomes
Pompe (Acid-Alpha-Glucosidase)
130
Autosomal dominant mutation in Fibroblast growth factor receptor 3 and effects
Achondroplasia, limits chondrocyte proliferation; failure of longitudinal bone growth.
131
Defect in aging
Collagen fibril production
132
ion channel defect causing prolonged QT syndrome; increased risk of sudden cardiac death- Inheritance Pattern
Romano-Ward Syndrome (AD)
133
Congenital prolonged QT, sensorineural hearing loss+ inheritance pattern?
Jervell and Lange Nielsen Syndrome (AR)
134
ASD associated with T21
osmium primum defect
135
PROV in tetralogy of fallot
Pulmonic stenosis, right ventricular hypertrophy, overriding aorta, VSD
136
Risk for transposition of the great vessels
Maternal diabetes
137
Failure aorticopulmonary septum to spiral
Transposition of the great vessels
138
Failure of the truncus arteriosus to divide
Patent Truncus arteriosus (aorta combined with pulmonic valve)
139
rib notching, lower extremity hypotension, with upper extremity hypertension
Coarctation of the aorta in an adult
140
Coarctation of the aorta is associated with what genetic syndrome
Turner
141
what teratogen causes VSD
Alcohol
142
Biggest different between Aortic stenosis caused by age vs chronic rheumatic fever
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
histological feature of HOCM
myofibril disarray
144
Mutation associated with HOCM
Sarcomeric proteins like Myosin binding protein C and Beta-myosin
145
low voltage EKG with diminished QRS Amplitude
Restrictive Cardiomyopathy
146
Causes of Restrictive Cardiomypathy
Puppy LEASH (restrict your puppy) P- post radiation fibrosis, Loffler endocarditis, endocardial fibroelastosis (thick fibroelastic tissue in children), Amyloidosis, Sarcoidosis, Hemochromatosis,
147
Causes of Dilated Cardiomyopathy
Alcohol abuse, wet beriberi, coxsackie B myocarditis, chagas disease, doxorubicin, hemochromatosis, sarcoidosis, thyrotoxicosis, permpartum cardiomyopathy
148
heart sound associated with dilated cardiomyopathy
S3 (blood fills ventricle, sloshing back and forth)
149
heart sounds associated with HOCM
S4 (atrial kick into a thick ventricle)
150
heliotrope rash, grotton nodules, muscle weakness, adenocarcinoma of the ovary
Dermatomyositis (CD4+, Perimysial inflammation)
151
Cells involved in forming the fibrous cap in atherosclerosis
Smooth muscle cells.
152
High pTH, Shortened 4th and 5th digits, short stature, obesity, developmental delay
Pseudohypoparathyrodism Type 1A/ Albright Hereditary Osteodystrophy
153
Mutation associated with Pseudohypoparathyroidism?
AD- Gs protein alpha sub unit mutation causing end organ resistance to PTH - Inherited from mom due to imprinting
154
normal PTH, shortened 4th and 5th digits, short stature, obesity, developmental delay
Pseudopseudohypoparathyroidism- Same as Gs protein but occurs when defect is inherited from father.
155
cystic bones spaces filled with brown fibrous tissue- due to increased PTH classically associated with Primary hyperparathyroidism
Osteitis Fibrosa cystica
156
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
Familial Hypocalciuric Hypercalcemia
157
Enlargement of existing pituitary ACTH secreting tumor after bilateral adrenalectomy for refractory cushing's disease; hyper pigmentation, headaches, and bitempoeral hemianopsia
Nelson syndrome
158
Glans of the clitoris and glans of the penis
genital tubercle
159
Corpus cavernosum and spongiosum (male) and the vestibular bulbs in the female
genital tubercle
160
Bulbouretheral glands (male) and greater vestibular glands (female)
urogenital sinus
161
Prostate gland, urethral and paraurethral glands (female)
Urogenital sinus
162
ventral shaft of the penis- urethra, and labia minor
urogenital folds
163
scrotum, labia major
labioscrotal swelling
164
aphthous ulcer, genital ulcerations, uveitis, erythema nodosum; precipitated by HSV or Parvovirus and lasts 1-4 weeks
Behcet Syndrome; Small vessel vasculitide the is immune complex based and associated with HLA B51
