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A collection of verified questions and answers from nbme 30, covering various medical topics. it's useful for medical students preparing for exams, offering concise explanations of key concepts in areas such as immunology, endocrinology, and renal physiology. The questions test knowledge of diseases, mechanisms, and clinical presentations, enhancing understanding of complex medical scenarios.
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disease outcome between two groups of patients with or without a particular exposure (pt with exposure and disease/all with exposure)/(pt with disease but no exposure/all without exposure) [a/(a+b)] / [c/(c+d)]"
parasympathetic"
in appetite stimulation"
and circadian rhythm (Dreams) --> DM = dorsomedial"
sympathetic"
deficiency of NADPH oxidase complex which is essential for normal neutrophil intracellular killing of pathogens; renders phagocytes incapable of neutralizing catalase positive bacteria recurrent pneumonia = most common presenting infection usually caused by Staph aureus, aspergillus species, Burkholderia cepacia, and Nocardia species see NO color change with nitroblue tetrazolium test (normal phagocytes use NADPH to reduce nitroblue causing color change from yellow to blue) see normal concentrations of leukocytes and immunoglobulins"
mutations in lysosomal trafficking regulator gene --> microtubule dysfunction in phagosome- lysosome fusion
PLAIN: Progressive neurodegeneration, Lymphohistiocytosis, Albinism (oculocutaneous), recurrent pyogenic Infection, peripheral Neuropathy see giant granules in granulocytes and platelets"
within phagolysosomes; mild disease, see recurrent candida albicans infection positive nitroblue tetrazolium test (presence of blue dye) because NADPH oxidase is still intact --
why disease is mild"
renal perfusion -hypoperfusion: decreased Na+ delivery sensed by macula densa cells = set off RAAS = increased efferent arteriolar resistance = maintenance of GFR -systemic HTN: opposite mechanism (increased Na+ delivery sensed by macula densa = inhibition of RAAS = decreased efferent arteriolar resistance)"
stimulates excessive production of insulin-like growth factor 1 (IGF-1) from the liver --> IGF- stimulates growth of appendicular skeleton -occurs AFTER closure of growth plates -excessive GH and IGF-1 = deranged glucose homeostasis by increasing peripheral insulin resistance = decrease muscle uptake of glucose = increase lipolysis and hepatic gluconeogenesis"
chorioamnioitis (bacterial infection of fetal membranes that most commonly occurs with premature or prolonged rupture of membranes)"
site and induce conformational change in active site of enzyme which increases its affinity for substrate --> demonstrated as a decrease in Km (opposite seen for allosteric inhibitors)"
see pain with palpation, swelling, erythema, but intact range of motion common ones = subacromal bursa, trochanteric bursa, olecranon bursa" "Renal papillary necrosis -pathophysiology -causes
toxin-mediated damage to the renal papilla; sloughing and loss of papillae -triggered by infections (ex: acute pyelonephritis), DM, sickle cell disease (common; secondary to renal medullary ischemia and infarction), NSAIDs -gross hematuria, proteinuria, acute flank pain" "Zellweger syndrome -inheritance -pathophysiology -histology -clinical presentation -labs
-defect in PEX gene = impaired peroxisome synthesis (peroxisome = cholesterol/bile acid synthesis, metabolism of very long chain fatty acids) -foamy, lipid filled hepatocytes and necrosis -seizures, intellectual disability, hypotonia, hepatomegaly, kidney disease, cataracts, hearing loss, craniofacial abnormalities -increased VLCFAs, AST, ALT and direct bilirubin -no treatment; life expectancy less than 6 months of age"
generalized and tis conclusions applied to groups beyond those considered in the study population see in studies that have wide representation in gender, socioeconomic and ethnic breadth, and wide financial and insurance status --> likely to capture a sample that represents whole population"
polyps in colon and GI tract, pigmented macules in mouth/lips/hands/genitalia hamartomatous polyps can present with intussusception, bowel obstruction, microcytic anemia"
polyps in GI tract mucocutaneous neuromas, oral papillomas, cutaneous tichilemmomas"
dominant; thousands of adenomatous polyps arising after puberty associated with osteomas, soft tissue tumors, supernumerary teeth, hypertrophy of retinal pigment epithelium"
prone to developing colon, GU, or skin cancers cutaneous manifestations = keratoacanthomas, sebaceous gland tumors"
= immune protected site since developing spermatozoa may contain genetic material that is foreign to body as a result of recombination during meiosis destruction of barrier = elicit immune response = autoantibodies against gametes"
both B and T cel function = recurrent bacteria, viral, and fungal infections -caused by many different mutations -FTT, severe lymphopenia with impaired cellular and humoral immunity" "duodenal ulcer perforation -pathophysiology -imaging
peritoneal space = peritonitis --> abdominal rigidity, rebound tenderness, guarding
not nicotinic used to treat urinary retention (Bladder) and gastric dysmotility (Bowel) not metabolized by acetylcholinesterase but actions can be blocked by atropine"
obstructive) hydrocephalus in which ventricles are enlarged = damage to white matter tracts connecting frontal lobes and basal ganglia -dementia (frontal executive dysfunction), wide-based or magnetic gait, urinary incontinence, postural instability, nystagmus --> "Wet, Wobbly, Wacky" -signs of increased ICP (headaches, papilledema) are absent -many cases are idiopathic -Tx = ventricular shunting"
disorder characterized by atrophy of frontal and temporal lobes -deficits in social behavior and personality along with dementia" "Ehrlichiosis -microbe and epidemiology -transmission -presentation -labs
southeast, mid-atlantic and central US -tick borne -fever, headache, mylagias, NO RASH -thrombocytopenia, leukopenia, increased AST, ALT -doxycycline (think: when you LICK someone, there is no rash left behind)"
exposure; lasts 1-2 hours): crosslinking of IgE on sruface of basophils and mast cells = degranulation and release of cytokines (histamine, prostaglandins, leukotrienes) -late (2-8 hours after mast cell activation): recruitment of inflammatory cells (predominantly eosinophils) to nasal mucosa"
(and concluding there is a statistically significant relationship when there is not) -equal to alpha (%) which converted to a decimal is equal to the p value -ex: if p = 0.05, then alpha = 5% --> 5% likelihood of making a type 1 error think: in order to be #1, scientists will say experiment is right even when it is not"
exists -Power (1-beta) = probability of rejecting a null when it is true; Beta = probability of committing a type II error -ex: if power = 80% , then beta = 20%"
agonist but has decreased efficacy (decreased Vmax)"
binding globulin"
carina to apex --> pulmonic and aortic are superior to line, tricuspid and mitral are inferior"
exogenous dexamethasone administration where as small cell lung paraneoplastic syndrome will not"
glycation end products in vascular endothelium = capillary damage t/o body, including within vasa nervorum (vessels that supply blood to peripheral nerves)
in various tissues resulting in progressive organ dysfunction --> ex: hepatomegaly, macroglossia, cardiac conduction abnormalities, Sx of restrictive cardiomyopathy, nephrotic syndrome protein fragments commonly derived from immunoglobulin light chains = AL amyloidosis (subtype of amyloidosis; most common; light chain amyloidosis) --> can be caused by plasma cell dycrasias (ex: multiple myeloma) second most common form = reactive amyloidosis (AA amyloidosis; serum amyloid A protein deposition) --> secondary to chronic inflammation; typically presents with nephrotic syndrome"
primitive renal structures form: pronephros, mesonephros, and metanephros -metanephros: only one that contributes to ultimate formation of kidney (other 2 structures degenerate) -ureteric bud forms as out pouching of mesonephric duct -normal renal embryologic development is dependent on reciprocal inductive signaling between ureteric bud and metanephros --> ureteric bud forms collecting ducts under influence of metanephros; metanephros forms renal tubules in response to ureteric buds"
of platelets with subsequent development of thrombocytopenia bone marrow biopsy shows increased number of megakaryocytes (indicates adequate production) see petechiae and purpura due to microhemorrhages into skin and prolonged bleeding time"
microangiopathy --> microthrombi consisting primarily of platelets form and occlude microvasculature --> can lead to end organ ischemia and damage primarily in adults; due to acquired autoantibodies against or gene mutations in a proteolytic enzyme (ADAMTS13) classic pentad: (1) fever (2) neurological abnormalities (3) microangiopathic hemolytic anemia [due to mechanical damage of RBCs by microthrombi in vasculature = schistocyte] (4) thrombocytopenia (5) impaired renal function
Hematologic emergency --> Tx with plasma exchange ASAP (fatal if untreated)"
pupillary dilation, tremors, muscle cramping, abdominal cramping, NVD, lacrimation, rhinorrhea, yawning and piloerection (not seen withdrawal from other recreational drugs)"
same for ovaries"
(quantity/unit time) = pressure/resistance resistance = length x viscosity/pie x radius ^ decrease in vessel radius = large increase in resistance = decrease in blood flow"
velocity = m/sec --> distance/time --> velocity decreases with an increase in cross-sectional area"
with lymph fluid caused by obstruction of the lymphatic system; lined with endothelium associated with Turner syndrome (45, XO)"
(endogenous [ex: pregnancy] or exogenous) = increased levels of transport proteins such as thyroid hormone binding globulin increase in thyroid hormone binding globulin = increased total thyroid hormone concentration (because more in bound state) but unchanged free thyroxine and TSH concentrations" "Mucopolysaccharidoses (MPS) -common pathophysiology -types
deficiency that prevents degradation of glycosaminoglycans (heparan and dermatan sulfate) in lysosome = buildup of atypical substrates in lysosomes
intestinal peptide (increases secretion of water and electrolytes and increases relaxation of intestinal sphincters and smooth muscle) Sx = chronic and profound watery diarrhea, hypokalemia, hypercalcemia, achlorhydria, alkalosis, flushing, vasodilation"
radical damage deficiency = hemolytic anemia, generalized muscle weakness, posterior column and spinocerebellar tract demyelination"
hippocampus due to high metabolic demands hypoxia = no ATP production = increased intracellular Na+ concentration due to dysfunction of Na/K ATPase = pulls water into cells = edematous (large) neurons"
particular point in time --> risk factor and outcomes are measured simultaneously (all information collected at single time point"
follows them over time to identify whether exposure is associated with outcome of interest"
= diarrhea, dementia, dermatitis"
absorption of tryptophan which is the precursor to nicotinic acid (niacin, vitamin B3); see pellagra-like Sx = diarrhea, dementia, dermatitis (3 D's with Vitamin B3 deficiency)"
synthesis = swollen bleeding gums, easy bruising and bleeding, petechiae, impaired wound healing, short fragile curly hair"
small arteries and arterioles = arteriosclerosis --> thickening of vessel walls and loss of elasticity (1) Hyaline arterioscerolosis = protein deposition in vessel walls (2) Hyperplastic arteriosclerosis (aka hyperplastic arteriolitis) = concentric thickening of vessel wall with laminar appearance caused by proliferation of smooth muscle cells; associated with severe, chronic HTN"
ghrelin (your stomach growls if you're late to lunch)"
stimulation of leptin (ventro sounds like "biento" = i'm good (full))"
abnormally dense bone due to failure of osteoclastic resorption recall: osteoclasts arise from monocyte-macrophage lineage --> defects in signaling of macrophage CSF play role in pathogenesis"
of uroporphyrinogen decarboxylase = lack of heme synthesis + accumulation of uroporphyringogen III --> deposited into skin and produce ROS when excited by sunlight Sx= severe cutaneous photosensitivity with blistering and hyperpigmentation after exposure to sunlight"
dopamine, epinephrine, norepinephrine"
which converts phenylalanine to tyrosine build up of phenylalanine = failure to reach milestones, microcephaly, hyperactivity, seizures, intellectual disability, mousy odor of skin and urine must supplement diet with tyrosine in order to produce catecholamines"
-etiology -clinical presentation
-abnormality in neural crest development such that neural crest cells do not properly differentiate into melanoblasts (melanocyte precursors) or melanoblasts do not migrate to proper location -white forelock in hair, white eyelashes, depigmented skin patches, iridic heterochromia, sensorineural hearing loss, laterally displaced eyes -audiologic evaluation and genetic testing"
movement disorders (2) psychomotor impairment (3) memory deficits -imaging: multiple, symmetric, poorly demarcated T2 hyperintense lesions scattered in subcortical white matter -brain biopsy: microglial nodules with multinucleated giant cells -DDx: PML (more rapid disease progression, focal deficits, different MRI findings) vs Primary CNS lymphoma (MRI with dominant cortical mass not multiple lesions)"
stimulation = sinus bradycardia, hypotension, syncope may be exacerbated in setting of volume depletion (ex: diuretic use)"
transfusion syndrome (TTTS) = formation of arteriovenous anastomoses in chorion of placenta that allows blood to pass from one fetus to the other (2) Twin Anemia Polycythemia Sequence (TAPS) = presentation of TTTS with one twin having anemia (low hematocrit) and the other twin having polycythemia (high hematocrit) can see discordant amniotic fluid indices, congenital anatomic abnormalities, hydrops fetalis, heart failure, intrauterine growth restriction"
(since alcohol is a CNS depressant) -initially: tremors, anxiety, diaphoresis, HTN, tachycardia, nausea -within hours of last drink: alcoholic hallucinations (auditory or visual without confusion or autonomic instability) and seizures (due to cortical hyperactivity)
-Delirium tremens: most concerning and life threatening --> severe confusion, disorientation, fluctuations in consciousness, agitation, visual hallucinations, autonomic instability (fluctuations in pulse, BP with hyperthermia)"
self-limited thyroiditis that often follows an acute viral illness Sx of hyperthyroidisim --> diaphoresis, palpitations, neck pain, dysphagia, fever, tachycardia increased T3 and T4, decreased TSH may become hypothyroid or euthyroid following acute inflammation characteristic = PAINFUL, tender thyroid"
decreased concentrations of thyroid hormone but with euthyroid clinical appearance does not present with enlarged or tender thyroid" "Autoimmune hemolytic anemia (AIHA) -etiology -diagnosis
surface antigens leading to removal of RBC via RES (phagocytosis) or intravascular hemolysis (via complement) diagnosis made by positive Coomb's test clinical presentation: unconjugated hyperbilirubinemia (jaundice) and increased reticulocyte count"
inhibit function of Na/K ATPase = Na+ retention in cell = water enters cell and causes SWELLING (first sign of reversible cell damage) -infarction: irreversible cell injury = cell death; see defects in plasma membrane, nuclear pyknosis, rupture of lysosomes"
-bones of limbs, axial skeleton (vertebrae, ribs), base of skull"
mesenchymal connective tissue with no cartilaginous model -facial bones, parts of the calvarium, clavicle" "cleidocranial dysplasia (CCD) -inheritance -pathophysiology
-CBFA1 gene mutation --> normally codes for a transcription factor involved in osteoblast differentiation --> therefore, disease = issue with osteoblast differentiation -delayed closure of cranial sutures, craniofacial dysmorphism (frontal blossing, prominent chin, maxillary hypoplasia), dental abnormalities (supernumerary teeth), hypoplastic clavicles, hypertelorism"
synthesis pathway (inhibition of ferrochelatase and ALA dehydratase), GI and kidney function -Sx = neurobehavioral symptoms (hyperactivity, decreased attention span), hearing loss, peripheral neuropathy, renal tubular dysfunction, interstitial nephritis, vomiting, abdominal gain, constipation, anemia -basophilic stippling on peripheral blood smear and ringed sideroblasts within bone marrow"
lipase deficiency --> lipoprotein lipase catalyzes conversion of triglyercides carried by circulating chylomicrons into fatty acids that can be absorbed by cells for use in metabolism -increased serum concentrations of chylomicrons and triglycerides -abdominal pain following ingestion of fatty meals and steatosis, eruptive xanthomas, lipemia retinalis (cream colored discoloration of retinal vessels) -buildup of chylomicrons and triglycerides in serum = milky appearance and increased serum amylase activity"
small nuclear fragment but no distinct nucleus and intensely eosinophilic cytoplasm
seen in both acute and chronic hepatitis" "Ataxia Telangiectasia -inheritance -pathophysiology
-defect in DNA repair --> somatic mutations accumulate = dysfunction of diverse proteins, increased susceptibility to hematologic malignancy (such as Hodgkin lymphoma) -progressive ataxia, telangiectasias of eyes and exposed areas of skin, abnormal eye movements, decreased immunoglobulin concentrations (leading to recurrent sinopulmonary infections)"
systolic murmur loudest at the LLSB; LVOT obstruction + stiffened, noncompliant left ventricle (impairs filling during diastole = decreases CO --> more pronounced with tachycardia due to decreased filling time) -decrease preload (decreased venous return) or decrease afterload = accentuate murmur --> strain against closed glottis -increase preload or increase afterload = quiet murmur --> supine with legs elevated -medications used to reduce pulse and increase diastolic filling time = beta blockers, non-DHP CCB"
of serotonin by a carcinoid tumor --> leads to weight loss, flushing, diarrhea, bronchospasm, right sided cardiac valvular disease (tricuspid valve) -carcinoid tumors = neuroendocrine cell neoplasms; most common in small intestine (can also see in lung)"
occur on sun-exposed areas in elderly due to atrophy of dermal collagen from age and actinic (sun-related) damage --> cause dermal vessels to become fragile and break easily most common locations = dorsal hands and forearms platelet count normal