NBME 15 Flashcards
Dullness to percussion, decreased breath sounds, decreased fremitus; tracheal deviation away from side of lesion if large enough
Pleural Effusion
Decreased breath sounds, dullness to percussion, decreased tactile fremitus; Tracheal deviation toward lesion
Atelectasis (bronchial obstruction)
Decreased breath sounds, hyper-resonant to percussion, decreased tactile fremitus
Simple Pneumothorax
Decreased breath sounds, hyper-resonant to percussion, decreased tactile remits, tracheal deviation away from side of lesion
tension pneumothorax
Bronchial breath sounds, late inspiratory crackles, egophony, whispered pectoriloquy, dullness to percussion, increased tactile remits
Consolidation
micrognathia (jaw is undersize), glossoptosis, cleft palate, airway obstruction
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
Mandibular hypoplasia, facial abnormalities
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
facial, palate, and cardiac defects
Velocardiofacial Syndrome: 22q11 deletion
Cleft palate, Abnormal facies, Thymic aplasia, Hypocalcemia
DiGeorge; 22q11 deletion; branchial pouch derivatives 3 and 4.
Failure of fusion of the maxillary and merged medial nasal prominences
cleft lip
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
Cleft Palate
autosomal Dominant, seizures, mitral regurg, mental retardation, angiofibromas, hamartomas of the CNS, angiolipomas, shagreen patches, ash leaf spots, bumps around the nose rhabdomyoma
Tuberous sclerosis
Tumor suppressor gene and function associated with Tuberous Sclerosis
TSC1 (Hamartin protein) on Chromosome 9 or TSC2 (tuberin protein) on Chromosome 16
telangectasias, blanching of skin and mucus membranes, recurrent epistaxis, AV malformations, GI bleeding and hematuria
Osler Weber Rendu Syndrome/ Hereditary Hemorrhagic telangiectasia- thin walled blood vessels
Fat with osseous and soft tissue tumors, congenital hypertrophy of retina pigment epithelium, impacted supernumerary teeth
Gardner Syndrome
FAP or lynch with CNS tumors like medulloblastoma or glioma
Turcot Syndrome
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)
Peutz- Jeghers Syndrome- Autosomal Dominant
Numerous hamartomatous polyps in children under the age of 5, in the colon, stomach and small bowel
Juvenile Polyposis Syndrome
What organ has the highest o2 extraction
heart
Aspirin OD is most likely to cause what changes to labs
Increased Bleeding time because its an anti-platelet
DNA mutation leading to elongation of trinucleotide repeats
Slipped strand mutation
Segment of DNA that can jump from one location into a target site; mechanism of anti-biotic resistance across species
Transposition.
Neural crest cell Derivatives
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
RET mutation arises in what cells giving rise to what
Arises in neural crest cells and is related to pheochromocytoma and neuroblastoma; hirschsprung disease too
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
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.
Cafe- au last spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, litchi nodules (pigmented iris hamartomas)
NF 1 (TS gene)
Mutation associated with NF1
on chromosome 17; mutation in neurofibromin, a negative regulator of RAS
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
NF2
Mutation associated with NF2
NF2 ts gene on chromosome 22
hemangioblastomas in retina, brain stem, cerebellum, spine; angiomatosis (cavernous hemangioma in skin, mucosa, organs); bilateral renal cell carcinoma, pheochromocytomas
VHL
Mutation associated with VHL
Chromosome 3; Autosomal Dominant; pVHL ubiquitinates HIF-1a. HIF is only highly expressed under hypoxic conditions + cellular proliferation promoting cancer
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.
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.
One gene contributes to multiple phenotypic effects
pleiotropy
A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
Dominant negative mutation
Mutation that arises from mitotic errors after fertilization and propagates through multiple tissues
Somatic mosaicism
mutation only in effect or sperm cells; suspect if parents do not have disease
gremlin mosaicism
Example of a mutation a different loci that can produce a similar phenotype
Albinism- called locus heterogeneity
Different mutations in the same locus that produce the same phenotype
Beta thalassema- Allelic heterogeneity
Presence of normal and mutated mtDNA, resulting in variable expression in mito inherited disease
Heteroplasmy
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
Prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists, low set ears, micrognathia, congenital heart disease; death by age 1
Edwards Syndrome (T18)
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)
Lipid soluble hormones
Thyroid hormone (acts like steroid), steroid hormones (androgens, mineralocorticoids, etc) fat soluble vitamins
Lesion that causes pie in the sky (left upper quandratopia)
lesion of Meyer’s Loop in the temporal Lobe
Lesion that causes pie on the floor left lower quadrantopia)
lesion in optic radiation- right parietal lobe `
increased PTH, low Ca2+, decreased serum PO4; hyperactivity of osteoblasts–> Increased ALP
Osteomalacia, rickets in children
IgM antibody that targets IgG Fc region
Rheumatoid Factor–> RA
Anti-citrullinated peptide antibody
RA
Anti-Beta2 glycoprotein
Anti-phospholipid Syndrome
Anticardiolipin
SLE
AntidsDNA, Anti-Smith
SLE
Anti-histone Antibody
Drug induced lupus
Anti-U1 RNP (ribonucleotide protein)
Mixed CT disease
Anti-Ro/SSA, Anti-La/SSb
Sjorgens
Anti-Scl70/ Anti-DNA Topoisomerase I
Scleroderma
Anticentromere
CREST syndrome
IgA anti-endomysial, IgA Anti-tissue transglutaminase, IgA and IgG Deaminated Gliadin Peptide
Celiac Disease
Anti-Phospholipase A2
Primary Membranous Nephropathy
PR3-ANCA/c-ANCA
Wegner’s Granulomatosis
Anti-desmoglein
Pemphgoid vulgaris
Anti-hemidesmosomes
Bullous Pemphigoid
most infectious agents in aspiration pneumonia associated with alcoholism
Bacteroides fragilis, peptostrep, fusobacterium
inclusion bodies in fibroblasts, coarse facial features, accumulation of proteins in the Lysosomes
I cell disease
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
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
Seizure: lip smacking, picking movements of the hand, extension and stiffening of upper extremity; slowly returns to a normal state
Complex partial
no loss of consciousness or post-ictal state; motor, autonomic or psychic symptoms possible
Simple partial
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)
early changes in personality and behavior or aphasia with associated parkinsonian movement disorder
Picks Disease- Frontaltemporal Dementia
visual hallucinations, dementia with fluctuating cognition/ alertness, REM sleep behavior disorder, and parkinsonism.; Onset os cognitive and motor symptoms <1 year
Lewy body dementia
weight loss, fever, arthritis, fever, adenopathy; PAS + Macrophages
Whipple disease
steatorrhea, fat soluble vitamin deficiency, diabetes mellitus, muscle fiber
Pancreatic insufficiency
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)
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.
what is lentigo melagna, aural letinginous
Type of melanoma
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
Abnormal presence of erythroblasts in the blood
Erythroblastosis fetalis- hemolytic disease of the newborn
Neutrophil chemotactic factor
platelet-activating factor (enhances leukocyte adhesion to endothelium), LTB4, C5a, C3a, IL-8, kallikrein
conjunctivitis, urethritis, arthritis, sacroilitis, kertoderm blennorrhagioma (hyperkeratoic vesicles on palms and sole)
Reative Arthritis
Causes of Reactive Arthritis
Chlamydia, salmonella, shigella, yersinia, campylobacter, c difficile
Symptoms of primary syphillis
painless chancre
fever, lymphadenopathy, rash on palms and soles, condyloma late
secondary syphillis
Gummas, tabes dorsalis, general paresis, aortitis, argyll robertson pupils
Tertiary syphillis
Essential fructosuria and helpful enzyme
Deficiency fructokinase; hexokinase shunts fructose to glycolysis
hereditary fructose intolerance- deficient enzyme
Aldolase B
Recurrent infections with catalase positive organisms, decreased DHR green fluorescence and negative nitroblue tetrazolium test
NADPH Oxidase Deficiency= Chronic granulomatous disease
ovoid cells within macrophages; smaller than RBCs
Histoplasma capsulatum
Pseudohyphae and blastoconidia
Candida
multinucleate spherules packed with endospores; Larger than RBCs
Coccidiodes
fungus with broad based budding acquired in central and eastern US; same size as RBCs
Blasto
captains wheel, latin america; larger than RBCs
paracoccidiomycosis
IF showing linear deposits
RPGN; Anti-GBM antibodies
IF granular deposits with basement membrane splitting
MPGN
Cytokine that causes proliferation of T cells, B cells, NK cells, monocytes
IL-2
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
Increased hematocrit with normal RBC mass
Relative Erythrocytosis (dehydration, excessive diuresis)
Adrenal hemorrhage, hypotension, DIC
Waterhouse Friedrich Syndrome
skin hyper pigmentation, hypotension, fatigue
Addison’s Disease
Severe pyogenic infections; opportunistic infections with pneumocystis, cryptosporidium, and CMV
Hyper-IgM syndrome; CD40L defect on T cells leading to class switching defect (XR)
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
Currant Jelly stools and colicky abdominal pain
intussusception
Currant jelly Sputum
Klebsiella pneumonia
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)
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)
Cytokines that produce systemic symptoms of inflammation
TNF-Alpha, IL-1, IL-6
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)
Shock associated with decreased SVR and Increased CO
Septic Shock
shock associated with decreased SVR and CO
Neurogenic shock
Cofactor for carboxylation enzymes
Biotin B7
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)
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)
Increased FRC, RV, TLC; very decreased FEV1 and decreased FVC: Decreased FEV/FVC ratio
Obstruction Lung Disease
Bilateral Radiucular pain, saddle anesthesia, hyporeflexia
Cauda equina syndrome
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.
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)
Exposure and outcome measured at the same time
Cross-sectional study
Flushing, diarrhea, abdominal pain, Pulmonic or tricuspid murmur,
carcinoid tumor
Stem cells of the lungs
Type II pneumocytes
greater than one year of one or more motor OR verbal tics, not both
Chronic Tic disorder
Greater than one year of sudden, rapid, recurrent, nonrhythmic, stereotyped motor AND vocal tics
Tourettes syndrome
right sides hydrocele is most often related to what type if hernia
indirect inguinal hernia
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.
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.
Bowel that herniates below the inguinal ligament through the femoral ring and medial to the femoral vessels
Femoral Hernia
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.
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
severe cardiomegaly, normal glucose levels, heptomegaly, hypotonia, glycogen accumulation in lysosomes
Pompe (Acid-Alpha-Glucosidase)
Autosomal dominant mutation in Fibroblast growth factor receptor 3 and effects
Achondroplasia, limits chondrocyte proliferation; failure of longitudinal bone growth.
Defect in aging
Collagen fibril production
ion channel defect causing prolonged QT syndrome; increased risk of sudden cardiac death- Inheritance Pattern
Romano-Ward Syndrome (AD)
Congenital prolonged QT, sensorineural hearing loss+ inheritance pattern?
Jervell and Lange Nielsen Syndrome (AR)
ASD associated with T21
osmium primum defect
PROV in tetralogy of fallot
Pulmonic stenosis, right ventricular hypertrophy, overriding aorta, VSD
Risk for transposition of the great vessels
Maternal diabetes
Failure aorticopulmonary septum to spiral
Transposition of the great vessels
Failure of the truncus arteriosus to divide
Patent Truncus arteriosus (aorta combined with pulmonic valve)
rib notching, lower extremity hypotension, with upper extremity hypertension
Coarctation of the aorta in an adult
Coarctation of the aorta is associated with what genetic syndrome
Turner
what teratogen causes VSD
Alcohol
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
histological feature of HOCM
myofibril disarray
Mutation associated with HOCM
Sarcomeric proteins like Myosin binding protein C and Beta-myosin
low voltage EKG with diminished QRS Amplitude
Restrictive Cardiomyopathy
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,
Causes of Dilated Cardiomyopathy
Alcohol abuse, wet beriberi, coxsackie B myocarditis, chagas disease, doxorubicin, hemochromatosis, sarcoidosis, thyrotoxicosis, permpartum cardiomyopathy
heart sound associated with dilated cardiomyopathy
S3 (blood fills ventricle, sloshing back and forth)
heart sounds associated with HOCM
S4 (atrial kick into a thick ventricle)
heliotrope rash, grotton nodules, muscle weakness, adenocarcinoma of the ovary
Dermatomyositis (CD4+, Perimysial inflammation)
Cells involved in forming the fibrous cap in atherosclerosis
Smooth muscle cells.
High pTH, Shortened 4th and 5th digits, short stature, obesity, developmental delay
Pseudohypoparathyrodism Type 1A/ Albright Hereditary Osteodystrophy
Mutation associated with Pseudohypoparathyroidism?
AD- Gs protein alpha sub unit mutation causing end organ resistance to PTH - Inherited from mom due to imprinting
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.
cystic bones spaces filled with brown fibrous tissue- due to increased PTH classically associated with Primary hyperparathyroidism
Osteitis Fibrosa cystica
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
Enlargement of existing pituitary ACTH secreting tumor after bilateral adrenalectomy for refractory cushing’s disease; hyper pigmentation, headaches, and bitempoeral hemianopsia
Nelson syndrome
Glans of the clitoris and glans of the penis
genital tubercle
Corpus cavernosum and spongiosum (male) and the vestibular bulbs in the female
genital tubercle
Bulbouretheral glands (male) and greater vestibular glands (female)
urogenital sinus
Prostate gland, urethral and paraurethral glands (female)
Urogenital sinus
ventral shaft of the penis- urethra, and labia minor
urogenital folds
scrotum, labia major
labioscrotal swelling
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
