NBME 16 Review Flashcards
Postnatal derivative of the ductus areteriosus
Ligamentum arteriosum
postnatal derivative of the ductus venous
ligamentum venosum
Postnatal derivative of the notochord
Nucleus pulposus
Postnatal derivative of the umbilical vein
Ligamentum teres hepatis/ Round ligament of the liver
Postnatal derivative of the Umbilical arteries
(from aorta/ low O2) median umbilical ligament
postnatal derivative of the allantois
urachus (between bladder and umbilicus)
Multiple open reading frames that are translated into several proteins; found in bacteria
polycistronic mRNA; eukaryotes are monocistronic
Killed or inactivated Vaccines
Rabies virus, Influenza virus (injection), polio virus, and Hepatitis A (RIP Always); humoral response due to maintaining epitope
Subunit vaccines
HBV, HPV (6,11, 16, 18), acellular pertussis, N Meningitidis, S pneumo, H Influe type B
Toxoid Vaccine
C Tetani, Diphtheria
Phosphorylation of serine and threonine residues on the insulin receptors by serine kinases ultimately leads to Insulin resistance. Which factors initiate this insulin resistance
TNF-Alpha, Catecholamines, glucocorticoids and glucagon
artery, vein, nerve, and lymph drainage above the pectinate line
visceral innervation, superior rectal artery (of IMA), to portal system via the superior rectal vein, internal iliac nodes
Artery, vein, nerve and Lymph drainage below the pectinate line
Somatic innervation (internal br of pudendal n), inferior rectal artery (of pudendal artery), inferior rectal vein to IVC, and superficial iliac nodes
Glycogen storage disease associated with Severe fasting hypoglycemia, increased glycogen in the liver, increased lactate, increased TGs, and UA
Von Gierke’s Disease- Type I ; impaired gluconeogenesis, glycolysis; tx with frequent glucose and cornstarch
Deficiency in Von Gierkes
Glucose 6 phosphate deficiency (last step)
Glycogen storage disease associated with Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance,
Pompe Disease (Type II)
Deficiency in Pompe Disease
Alpha Glucosidase or Acid Alpha Glucosidase deficiency
Glycogen storage disease with limit dextrin accumulation in the cytosol, mild hypoglycemia, mild increase in glycogen stores in the liver, mild increase in TGs and UA, No lactic acidosis
Cori Disease (Type III)
Deficiency in Cori Disease
Debranching enzyme
Glycogen storage disease associated with painful muscle cramps, myoglobinuria with strenuous exercise, and electrolyte abnormalities; Histo will show increased glycogen stores in muscle
McArdles Disease
Enzyme Deficiency in McArdles Disease
Glycogen phosphorylase
Murmur heard in a VSD
holosystolic murmur at the left sternal border
Murmur heard with Aortic Regurgitation
Early Diastolic murmur heard at the left sternal boarder
Murmur heard with an ASD
Wide-Split S2
Murmur heard with Aortic Stenosis
Systolic Crescendo-Decrescendo murmur at the left sternal border.
N-Acetylglucosaminyl-1-phosphotransferases deficiency is associated with what disease
I-Cell Disease; inability of the golgi to phosphorylate mannose residues which leads to failure of the protein to be sent to the lysosome for destruction, instead proteins meant to be destructed accumulate extracellularly
Peroxisome biogenesis disorder: hypotonia, seizures, hepatomegaly, early death due to mutation in PEX genes
Zellweger syndrome
Peroxisome deficiency in Alpha-Oxidation: you cant convert phytanic acid to prostatic acid; scaly skin, ataxia, cataracts/ night blindness, shortening of the 4th toe, epiphyseal dysplasia
Refsum Disease
Deficiency of peroxisome; X-linked recessive disorder of Beta oxidation which leads to very long chain fatty acid accumulation in adrenal glands, white matter of the brain and testes; progressive disease that leads to adrenal gland crisis, coma, death
Adrenoleukodystrophy
Causes of ATN
Intrinsic renal injury- from hypo perfusion; muddy brown casts; precipitated by ahminoglycosides, heme products in the blood, IV contrast, and rhabdomyolysis
Causes of Renal papillary necrosis
Chronic NSAID use, sickle cell disease, Acute pyelonephritis, and DM; microvascular damage of the renal papilla that leads to necrosis- associated with prolonged experience with a stressor
Causes of AIN
NSAIDs, furosemide/ diuretics, penicillin, sulfa drugs; characterized by a hypersensitivity reaction– WBC casts with eosinophilia.
Most common cause of prostatitis
Old men: E Coli; young Men–> C Trachomatis, N Gonorrhea
Bacterial that undergoes normal transformation
S pneumo, H influe Type B, and Niesseria Species; import short pieces of environmental naked bacterial chromosomal DNA
Frequency of Diseases and frequency of risk-related factors are measured in the present
Cross-sectional study
Compares a group of people with diseases to a group of people without disease; looks to see if the odds or a prior risk factor or exposure differs by disease state
Case-Control Study
Compares a group with a given exposure or risk factor to a group without that exposure or risk factor
Cohort Study
Para aortic LN receive drainage from:
nodes draining the testes, ovaries, kidneys and uterus
The Inferior mesenteric LN receive drainage from:
the colon from the splenic flexure to the upper rectum
The popliteal LN receive drainage from:
LN draining of the dorsolateral foot and posterior calf
Superior mesenteric LN receive drainage from:
Ln drainage of the anal canal below the pectinate line, the scrotum and the vulva; skin below umbilicus
The internal Iliac nodes receive drainage from:
the anal canal above the pectinate line, bladder, middle 3rd of the vagina, cervix, and prostate
The superior mesenteric Ln receive drainage from
the lower duodenum, jejunum, ileum, and the colon all the way to the splenic flexure.
The celiac nodes receive drainage from
liver, stomach, spleen, upper duodenum, and pancreas
Gq pathway
Phospholipase C–PIP2–> DAG—> Protein Kinase C; IP3—> Increase Ca2+
Gs pathway
Adenylate Cyclase –> cAMP–> + PKA; increase Ca in heart, inhibits myosin light chain kinase in smooth muscle
Cafe au lait spots with ragged edges, polyostic fibrous dysplasia, and at least one endocrinopathy
McCune Albright Syndrome
Mutation Associated with McCune Albright syndrome
G-coupled protein signaling mutation thats either due to somatic mosaicism or gondal mosaicism
autism, mitral valve prolapse, long face with a large jaw, macroorchidism, and large everted ears
Fragile X syndrome
inheritance pattern and mutation associated with fragile x
X-linked dominant inheritance pattern; Trinucleotide repeat expansion of CGG_n
Trinucleotide repeated associated with huntington’s
CAG; AD
Trinucleotide Repeat associated with myotonic muscular dystrophy
CTG repeat expansion in the DMPK gene leading to abnormal expression of myotonia protein kinase; Autosomal Dominant
Trinucleotide repeat associated with Friedreich Ataxia
GAA; Autosomal Recessive
Renal reabsorption defect that results in increased excretion of amino acids, glucose, PO4, Bicarb, and all substances absorbed at the PCT
Fanconi Syndrome; associated with hereditary defects like Wilsons disease, tyrosinemia, glycogen storage disease, ischemia, MM, lead poisoning, etc)
Resorption defect affecting the TALoH ; metabolic alkalosis, hypokalemia, hypercalciuria
Bartter Syndrome; NaKCl2 defect: AR
resorption defect affecting the DCT; metabolic alkalosis, hypo magnesia, hypokalemia, hypocalciuria
Gitelman Syndrome; NaCl defect; AR
Gain of function mutation that results in increased absorption of Na at the CT; metabolic alkalosis, hypokalemia, hypertension, and decreased levels of aldosterone
Liddle syndrome:AD
Hereditary deficiency in 11-beta hydroxysteroid dehydrogenase deficiency leading to increased cortisol–> increased mineralcortcois activity that cause metabolic alkalosis, hypokalemia, hypertension and decreased serum aldosterone
Syndrome of Apparent Mineral Corticoid Excess (SAME); AR
Triad of eczema, thrombocytopenia, and low B and T lymphocytes leading to chronic infections
Wiskott-Aldrich Syndrome
mutation associated with Wiskott Aldrich
WASp gene: leukocytes and platelets unable to reorganize actin cytoskeleton –> defective antigen presentation; XLR
Mutation associated with Ataxia telangiectasia
ATM gene; failure to detect DNA damage-> fail to halt progression of cell cycle–> Accum of mutations
Cerebellar defects (ataxia), telangiectasia, and decrease IG
Ataxia-Telangiectasia
yellow firm adnexal mass with a microfollicular pattern around pink eosinophilic center
granulosa tumor that secretes estrogen
newborn with lethargy, poor feeding and bilious vomiting forming fibrous ladd bands
Malrotation of the midgut
bilious vomiting and abdominal distention in the first days of life; Double bubble sign on X-ray (dilated stomach and proximal duodenum)
Dudondenal Atresia (failure of gut recanalization)
Failure to obliterate the omphalomesenteric duct
mocker’s diverticulum
Brittle kinky hair, growth retardation, hypotonia
Menke Disease
Deficiency in Menke Disease
Impaired Cu absorption (ATP7A), Cu is a necessary co-factor for lysl oxidase, the enzyme that causes cross linking of collagen
Hyperextensibility of the skin, joints, and tendency to easily bruise
Ehlers danlos
Mutation associated with Ehlers Danlos
COL5A1 and COL5A2–> mutation in Type V collagen; leads to a problem with cleavage of disulfide rich terminal regions of pro-collagen or cross-llinking issues due to lysine hydroxylase
Mutation associated with Marfans
FBN1; fibrillar a glycoprotein that forms sheath around elastin; AD
nerves of the anterior compartment of the lower leg
Deep perineal n
Nerve of the posterior compartment of the lower leg
tibial
Mutation associated with PAH and its effects
BMPR2 which leads to vascular smooth muscle proliferation that kick starts the whole thing; young patients diagnosed with this
absent apoB, very low TG, chylomicrons, VLDLS; Deficiency in fat soluble vitamins; late–> neuroabnormalities and acanthosis; histo shows lipid laden Mos
Abetalipoproteinemia mutation in MTP gene
infant with macrocytic, megaloblastic anemia that is refractory to B12 and folate; elevated orotic acid levels, developmental delay
hereditary Orotic Aciduria
Deficiency in hereditary orotic Aciduria and treatment
UMP synthase; Uridine supplementation
Physicians receive a set amount per patient assigned to them per period of time regardless of how much the patient uses the healthcare system
Capitation Payment
Patient pays for all expenses associated with a single incident of care with a single payment. Most commonly used for elective surgeries.
Global Payment
Patients can see providers outside their network; higher copays, deductibles for out-of network services
Point of service health insurance plan
Healthcare organization receives a set amount per service, regardless of ultimate cost, to be divided among all providers and facilities involved
Bundled payment
BMT recipient develops maculopapular rash, jaundice, diarrhea, hepatosplenomegaly
Graft Vs Host Disease
MOA of GVHD; name type of HS reaction
grafted immunocompetent T cells proliferate and reject host cell; Type IV
liver transplant recipient develops thrombosis of graft vessels leading to ischemia and necrosis requiring removal of the graft
Hyperacute Transplant rejection
MOA of Hyperacute Transplant Rejection; Type of HS reaction
Occurs in minutes and is due to pre-existing Ab to donor antigen; Type II HS reaction
Liver transplant recipient develops vasculitis of graft vessels with dense interstitial lymphocytic infiltrate. Can be prevented or reversed with immunosuppressants.
Acute Transplant Rejection
MOA of Acute Transplant Rejection and Type of HS reaction
Occurs weeks to months after transplant and is caused by either DONOR CD8+ or CD4+ T cells that become activated against donor MHCs; Type IV- Ab develop after transplant
Liver transplant patient develops histological findings consistent with vascular smooth muscle proliferation, parenchymal atrophy and interstitial fibrosis of the grafted vessel. Dominated by Arteriosclerosis; Bronchiolitis obliterans, Accelerate atherosclerosis in the hear, nephropathy, vanishing bile duct syndrome (depends which organ is transplanted)
Chronic transplant rejection
MOA of Chronic Transplant Rejection; Type of HS Reaction ?
CD4+ T cells respond to recipient APCs presenting donor peptides; Type II and IV HS Rxn
outflow tract defects that occur due to failure of neural crest migration
transposition of the great vessels, tetralogy of Fallot, and Persistent truncus arteriosus
Steroid Hormones- Binds directly to DNA
progesterone, cortisol, aldosterone
Hypopigmented patches, hypoplastic thumbs, pancytopenia, increased risk of malignancy (AML), short stature
Fanconi Anemia
Defect in Fanconi Anemia and Ataxia Telangiectasia
Non-homologous DNA end joining
Patient with myopathy, lactic acidosis, and CNS disease; Muscle Biopsy shows red ragged fibers
Mitochondrial Myopathy: Mitochondrial inheritance pattern
myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
Myotonic Dystrophy Type I
Symptoms appear between the ages of 1-4 and are characterized by regression, motor, or verbal and cognitive abilities, ataxia, seizures, growth failure, stereotypes hand-wringing
Rett Syndrome; Girls only
Main function of ADH
Regulates Serum osmolality (secreted in low volume states) also increases Urea reabsorption in the collecting tubule to maintain the corticopapillary osmotic gradient
Cancers have developed chemo evasion by developing what sort of system
ATP dependent transporter that pumps Chemo Rx out of the cell; Mutation in the human Multi-drug resistance gene
Spirometry seen with morbid obesity
decreased FVC, Decreased FEV1, decreased expiratory reserve volume, normal residual volume, and decreased total lung capacity
podocyte effacement
Minimal change disease, FSGS
Spike and dome appearance on EM and Granular IF
Membranoglomerulonephritis / membranous nephropathy
Wilms Tumor, Aniridia (absence of iris), Genitourinary malformations, mental retardation; WT1 mutation
WAGR complex- nephroblastoma
Wilms tumor, diffuse mesangial sclerosis (Nephrotic syndrome, dysgenesis of gonads (pseudohermaphroditism), WT1 mutation
Denys Drash Syndrome
Wilms tumor, macroglossia, organomegaly, hemihyperplasia (WT2)
Beckwith-Wiedemann syndrome
Achilles Tendon Xanthoma with cholesterol 700+; increased LDL and Cholesterol
familial Hypercholesterolemia Type IIA- Defect or Absent LDL Receptor in hepatocytes (homozygous)
Achilles Tendon Xanthoma with Cholesterol around 300, increased LDL, VLDL, and Cholesterol
Familial Hypercholesterolemia Type IIB (Heterozygous); Decreased LDL R and Increased ApoB
Defective ApoE resulting in Palmar xanthomas
Dysbetalipoproteinemia
Pancreatitis, overproduction of VLDL
Hypertriglyceridemia
Decreased Lipoprotein lipase or defective Apo-CII with elevated Chylomicrons; Pancreatitis, hepatosplenomegaly, eruptive/ pruritic xanthomas
Hyperchylomicronemia
Fat Malabsorption, steatorrhea, failure to thrive in an infant; later develop retinitis pigmentosa, spinocerebellar degeneration due to Vitamin E deficiency, progressive ataxia, and acanthocytosis
Abetalipoproteinemia
Defect in Abetalipoproteinemia
ApoB48 and ApoB-100
Thyroid nodule, biopsy show overlapping cells with large nuclei, containing sparse, finely dispersed chromatin and psammoma bodies
Papillary Thyroid Carcinoma
Large follicles with diffuse scalloping
Hyperthyroidism- Graves Disease
MOA of Graves
thyroid-stimulating Ig stimulates TSH receptor on thyroid: + fibroblasts–> GAGs-> pretrial myxedema; Infiltration of T cells in periorbital space causing exopthalamos,
HLA Association in Graves
HLA-DR3 and HLA-B8
Features of hyperthyroidism: Hyperfunctioning follicular cells distended with colloid working independently of TSh
Toxic multi nodular goiter
Causes of thyroid storm and treatment
untreated hyperthyroidism or stress; 4 Ps: Propylthiouracil, propranolol, prednisone, potassium iodide
MOA of Hashinmoto Thyroiditis
Anti-bodies against Thyroid peroxidase (Antimicrosomal,) and anti-thyroidglobulin Ab
HLA associated in Hashimotos
HLA-DR3
Histology of Hashimoto’s
Hurthle cells with lymphoid aggregates forming germinal center in thyroid
Hypothyroidism following viral illness/ flu; may present as hyperthyroidism early in course. TENDER thyroid
Subacute granulomatous thyroiditis ( de Quervain)
Histology of De Quervain Thyroiditis
granulomatous inflammation
hypothyroidism that can manifest with IgG systemic diseases (autoimmune pancreatitis, retroperitoneal fibrosis, noninfectious aortitis); hard as a rock goiter that is pain less
Riedel Thyroiditis
Malignancy of the thyroid: Thyroid tissues whose follicles bust through the thyroid capsule
Follicular Carcinoma– must remove thyroid to distinguish from thyroid adenoma
Sheets of cells in amyloid stroma, elevated calcitonin, low calcium
Medullary Carcinoma
Mutations associated with medullary carcinoma
MEN2A and MEN2B
Mutations associated with Papillary Thyroid carcinoma
RET/PTC rearrangements, BRAF mutations
Compares a group with a given exposure or rick factor to a group without such exposure. Looks to see if exposure or risk factor is associated with later development of disease
Cohort Study
Looks at frequency of disease and frequency of risk-related factors in the present, asking what is happening
Cross-sectional Study
Compares a group of people with disease to a group of people without disease
Case (diseased)-Control (without disease) Study.
Narcolepsy is associated with what in the CSF
Hypocretin-1
Creutzfeld Jacob is associated with what protein in the CSF
14-3-3 protein
chorioretinitis, hydrocephalus, intracranial calcifications in an infant
Congenital Toxoplasmosis is caused by in-uteron infection- thats why pregnant women aren’t allowed to change kitty liter.
hypo pigmentation of the skin, hair, eyes, and brain nuclei, severe intellectual disability, musty body odor, seizures,
PKU
Albinism is due to a defect in which enzyme
Tyrosinase
Type I collagen disorder, cant glycosylate collagen
osteogenesis imperfecta COL1A1 and 1A2
Features of MEN1
Pituitary tumors, Pancreatic endocrine tumors (ZE, insulinoma, VIPomas, glucagonomas,etc)
MEN2A features
Medullary Thyroid Carcinoma, Pheochromocytoma, parathyroid hyperplasia
MEN2B features
Medullary thyroid carcinoma, Pheochromocytoma, MUCOSAL NEUROMAS, and marfanoid habits because RET mutation is involved.
Holosystolic murmurs
Mitral Regurg, Tricuspid Regurg and VSD
Diarrhea, weight loss, fever in an HIV + patient that has a CD4+ <50; Elevated Alk phos and LDH; treat with Azithromycin
Mycobacterium Avium- Mockingbird in cage in the azithromycin sketch
The placement of this filter is meant to prevent propagation of DVT, especially in folks with recurrent PE
IVC filter placed in the IVC.
Amino Acids required for the generation of Propionyl-CoA
VIMT: valine, isoleucine, methionine, threonine generates Propionyl-CoA–> Methylmalonyl-CoA–> Succinyl- CoA and enters the TCA
Common causes of Bronchiectasis
obstruction, impaired immunity, recurrent infection, or cystic fibrosis
Complications of OSA
Pulmonary HTN, Afib, coronary artery disease, and increased risk of sudden cardiac death.
Regulation of heart rate in Afib
AV node refractory period
Pt with truncal and limb ataxia, dysarthria, dizziness, and visual disturbances dies after unsuccessful treatment of a lung mass. Autopsy of the brain shows cerebellar purkinje cell degeneration. Antibodies Anti-Hu, anti-Yo and Anti-P/Q
Autoimmune disease triggered by neoplastic cells of the cancer (Paraneoplastic cerebellar degeneration)- different from mets which would present with HA, and decreased consciousness due to mass affect
When is the confidence interval of the Mean between two groups not statistically significant?
When the CI includes 0
When is the confidence interval of the odds ratio or relative risk not statistically significant
When the CI includes 1
When is the CI between two groups statistically significant
with the confidence intervals dont over lap.
What happens to sensitivity and specificity as prevalence changes
Nothing; independent of prevalence
What happens to PPV and NPV as you decrease prevalence
Decrease PPV, increase NPV
Shifting down the cut off point of a bimodal distribution results in what changes in sensitivity, specificity, NPV and PPV
Increases sensitivity, decreases specificity, decreases PPV, increases NPV
Shifting up the cut off point of a bimodal distribution results in what changes to sensitivity, specificity, NPV, PPV
decrease in sensitivity, increase in specificity, increase in PPV, and decreased in NPV.
Subject or investigator improves because they know they are being studied; Patient in an exercise study exercises more than usual
Hawthorne Effect- Type of Confounding
Investigator believes in the efficacy of a treat and therefore skews results; Observer expecting signs of recovery is more like to document positive outcomes
Pygmalion effect/ Observer Expectancy Bias
Prospective studies that lose patients to follow up
Attrition Bias
Clinical trial that is not representative of actual practice
sampling bias
Selection bias that occurs when hospitalized patients are chosen as the treatment or control arm
Berkson’s Bias
Factor is related to both the exposure and outcome, but is not on the causal pathway and therefore can confuse or distort the effects of the exposure on the outcome
Confounding bias
Four ways to reduce bias
Randomization, matching in case control studies, Crossover Study (placebo-washout–drug), and Blinding
Looking at the effects of Drug Ex on DVT– stratify group further into smokers and non-smokers and find a higher RR associated with the smokers
Effect modification; When a 3rd factor modifies the relationship between the exposure and the outcome
Shrinkage of neuronal body, deep eosinophilia of the cytoplasm, pykinosis (condensation of chromatin) of the nucleus with loss of the Nissl substance (stains RER)
Irreversible Cell Injury
Anterior horn cell that show cell body rounding, displacement of the nuclei and dispersion of Nissl substance to the periphery of cells
Wallerian Degeneration- Axonal Reaction to injury
Mutation associated with HbC
Missense; Glutamic Acid–> Lysine
Mutation associated with HbS
Missense: Glutamic Acid–> Valine
Mechanism of nephropathy in DM
Endoneural hyalinization–> Sorbitol accumulation in Schwann cells-> Osmotically active–> protein compression–> hyaline formation–> Nephropathy
Fever, joint pain, urticarial rash, fatigue, heptosplenomegaly, elevated LFTs; Multiple sexual partners
Acute Hep B infection
Subacute vision loss in teens/ young adults; inheritance pattern
Leber hereditary Optic Neuropathy= mt inheritance pattern
Delusions, severe agitation, disorientation, sensitivity to light, pharyngospasm, excessive salivation, eventual coma and death
Rabies
MOA of rabies
Binds to nAChR (smoking cigar) travels retrograde to the DRG, replicates in motor neurons (puppies under motor), then it spreads to the brain injecting purkinje cells leading to development of eosinophilic inclusions (pink tree) and infecting pyramidal cells of the hippocampus (boat with seahorse and pyramid)
Infarct in the pons at the level of the middle cerebral peduncle
Trigeminal nerve dysfunction (motor to muscles of mastication and sensory); contralateral hemiparesis (+ babinski- corticospinal tracts), dysdiodochokinesis (ataxic hemiparesis) and dysarthria
complication of Alcohol induced pancreatitis that results in what kind of cyst
pancreatic pseudocyst which is a cyst full of granulation tissue and fibroblasts because enzymes cause damage–> inflammation –> wound healing
Endochondral ossification resulting in hyaline cartilage deposition by chondrocytes: mutation
Achondroplasia FGFR3 mutation
Impaired osteoblast synthesis of Type I collagen (One-Bone) in bones
osteogenesis imperfecta
inheritance pattern of OI
Autosomal Dominant COL1A1, COL1A2
jaundice, vomiting, hepatomegaly, renal dysfunction, E coli infection, cataract and hemolytic anemia
Galactose-1-phosphate UDP transferase Deficiency
swollen gums, poor wound healing, petechiae, anemia, hemarthrosis, perifollicular and subperiosteal hemorrhages
Ascorbic Acid (Vitamin C) Deficiency; more common in adults; Vit K more common in babies
pt with ear pain that develops lightheadedness and dizziness with inspection of the ear
vasovagal syncope due to innervation of the external ear canal by the vagus nerve
Patient presenting with fever, uterine tenderness, and cerivical discharge that is foul smelling
Staph Aureus caused by termination of pregnancy which results in retrained products
Silver staining bugs
Fungi (Coccidiomycosis, Pneumocystis) Legionella, Helicobacter
Type of tremor that improves with alcohol use
essential tremor
S virdidans binds to what on valves
platelet-fibrin deposits
