General Path must knows Flashcards

Question

Porphyria cutanea tarda vs AIP vs Lead poisoning

Answer 1

Porphyria cutanea tarda - uroporphyrinogen decarboxylase (cytoplasm), tea colored urine (uroporphyrin accumulation), blistering cutaneous photosensitivity and hyperpigentation, most common, worse with alcohol consumption, causes are familial and Hepatitis C AIP - porphobilinogen deaminase (aka uroporphyrinogen I synthase in cytoplasm) which converts porphobilinogen to hydroxymethylbilane, accumulates porphobilinogen and ALA, !!!5 P's: Painful abdomen, Port wine colored Pee, Polyneuropathy, Psychological distrubances, Precipitated by factors that increase ALA synthase Lead Poisoning - Ferrochelatase (mitochondria) and ALA dehydratase (mitochondrial membrane), acumulate protoporphyrin and ALA in blood, microcytic anemia (basophilic stippling with ringed sideroblasts in bone marrow), child exposed to paint can have mental deterioration, adults environmental exposure lead to headache memory loss and demyelination (peripheral neuropathy)

Answer 2

x<250 coccidioidomycosis recommend fluconazole (inhibits ergosterol synthesis) x<200 Pneumocystis pna and cystoisoporiasis recommend TMP/SMX x<150 Histoplasmosis recommend Itraconazole (inhibits ergosterol synthesis x<100 Toxoplasma gondii recommend TMP/SMX x<50 Mycobacterium avium complex recommend Azithromycin or clarithromycin "My Tough Hiv Cd4 count Precuations Confuse me"

Answer 3

Zidovudine - NRTI, similar to thymidine, prevents formation of 3-5 phosphodiester linkages needed for DNA replication there after incorporated will prevent the elongation of viral DNA

Answer 4

amebiasis, abd pain and bloody stool, incubation for 1-4 weeks then symptoms, presence of cysts or trophozoites containined phagocytosed erythrocytes in fresh stool

Answer 5

comma shaped, grows in 42 celcius stool, bloody diarrhea

Answer 6

falciparum - anopheles mosquito, incubation 1 week, irregular fever spikes, blood smear shows RBC inclusion bodies, Chloroquine resistant ovale - tertian malaria, incubation 1 week, RBC inclusion bodies, fever pattern every 48 hours, chloroquine sensitive malariae - quartan malaria, incubation and RBC inclusions bodies the same, fever every 72 hours, chloroquine sensitive Malaria - would show ring shaped inclusions in erythrocytes Clinical features: joint pain and anemia, high fever with periodic spikes as well as flu like sx

Answer 7

cruzi - Chagas disease (dilated cardiomyopathy, fever, generalized lymphadenopathy, GI disease), circulating parasite in blood smear ***GI disease via destruction of myenteric plexus anywhere along GI tract, can result in inability to relax the lower esophageal sphincter*** increased chance in Central to souther america brucei - parastie in africa, causing sleeping sickness

Answer 8

Ixodes tick, NE and midwest regions of US, noncyclical fever, flu like sx, hepatosplenomagaly, anemia, blood smear show intra-erythrocyte rings with maltese cross

Answer 9

endemic to tropical and subtropic areas, noncyclical high grade fever, flu like sx, arthralgias, headache, sx onset 2-10 days after, peripheral smear would exhibit elevated lymphocytes and plasmacytoid cells

Answer 10

noncyclical fever, flu like symptoms, hepatospleomegaly, pancytopenia, amastigotes on blood smear

Answer 11

pathogenic fungus with thick polysaccharide capsule, stains bright red with mucicarmine (also india ink stain), transmitted via soil or pigeon droppings and infects resp tract especially immunodeficient, usually PNA but can manifest as cryptococcal meningoencephalitis narrow budding encapsulated yeast Tx: amphotericin B and Flucytosine

Answer 12

causes aspergillosis can manifest with PNA, H&E/silver/PAS staining show septate hyphae with fruiting bodies branching at 45 degree angles

Answer 13

staining shows multinucleated yeast the form broad-based buds, thin mucopolysaccharide layer so mucicarmine stains light red, SE and central US along with midwest near great lakes more common around wet soil and decaying wood

Answer 14

asymptomatic but can cause histoplasmosis in immunocompromised pts, ovoid yeast on stain

Answer 15

methenamine silver stain shows spherules filled with endospores, no stain with mucicarmine

Answer 16

fungus in lungs of immunocompromised, KOH staining show budding yeasts with hyphae and pseudohyphae

Answer 17

commonly associated with immunodeficiency, disc shaped cysts with central spores

Answer 18

BV - bacterial vaginosis, Gardnerella vaginalis, gray or milky fish odor discharge, clue cells (vaginal epithelial cell covered in bacteria) Candida - vaginal discharge, pruritus and dysuria, odorless and white/curdy cottage cheese like discharge appearance, pseudohyphae Trichomonas vaginalis - vaginal pruritus, dysuria, strawberry cervix (punctate hemorrhages on the cervix), yellow-green malodorous discharge, motile trophozoites with discharge pH >4.5, tx with metronidazole

Answer 19

Thymic aplasia - thymic shadow absent, more commonly DiGeorge syndrome 22q11 microdeletion, failure to develop 3rd and 4th pharyngeal puches, "CATCH-22": Cardiac defects Abnormal facies Thymic hypoplasia Cleft palate Hypocalcemia IL-12 receptor deficiency - decreases Th1 response, disseminated mycobacterial and fungal infection may present after BCG vaccine, decrease in Interferon gamma AD hyper IgE syndrome (Job syndrome) - Th17 cells deficiency due to STAT 3 mutation, impaired recruitment of neutrophils to sites of infection, "ABCDEF gets the JOB done": Abscesses/RETAINED BABY TEETH/Coarse facies/Dermatologic problems/increased IgE/bone Fractures in minors, increased IgE and Eosinophils "Nuertophils have trouble getting to their JOB to get the monEy, and I need it JAK-STAT" (JAK-stat issue resulting in bad chemotaxis of neutrophils and increased IgE) Chronic mucocutaneous candidiasis - T-cell dysfunction, classic form caused by defects in AIRE, absent in vitro T-cell proliferation in response to Candida antigens

Answer 20

X-linked agammaglobulinemia - Bruton, defect in BTK (tyrosine kinase gene) leading to no B cell maturation, recurrent infections after 6 months because mom's IgG has decreased, absent B cells in peripheral blood, decrease IgG in all cases, live vaccines contraindicated Selective IgA deficiency - unknown cause, majority are asymptomatic, decrease IgA with normal IgG and IgM levels, increase susceptability of giardiasis and can cause false-negative celiac disease test Common variable immunodeficiency - defect in B cell differentitiation, usually diagnosed after puberty, increase autoimmune disease risk, decrease plasma cells and immunoglobulins

Answer 21

SCID (severe combined immunodeficiency) - defective IL-2R gamma chain is most common and adenosine deaminase deficiency is Autosomal recessive, RAG mutation to VDJ recombination defect, failure to thrive/chronic diarrhea/thrush, screened for in newborns, absence of thymix shadow, germinal centers, and T cells Ataxia telangiectasia - defects in ATM gene (failure to detect DNA damage, failure to halt cell cycle, mutations accumulate), Triad: GAIT ATAXIA, spider Angiomas, IgA deficiency, prone to Giardia infection Hyper-IgM syndrome - most common is defective CD40L on Th cells (class switching defect), severe pyogenic infections in early life, normal or elevated IgM with decrease in IgG/IgA/IgE, failure to make germinal centers, prone to Pneumocystis jirovecii infection Wiskott-Aldrich syndrome - mutation in WAS gene, WATER: Wiskott-Aldrich, Thrombocytopenia, Eczema, Recurrent (pyogenic) infection. increase IgE and IgA with fewer and smaller platelets, leukocytes and platelets unable to reorganize actin cytoskeleton

Answer 22

lysosomal trafficking regulator gene, Chediak Higashi syndrome shows defect in LYST

Answer 23

used for migration and chemotaxis of WBC defect brings Leukocyte adhesion deficiency (type1), increase in neutrophils but are absent at infection site, impaired wound healing Late seperation of umbilical cord, Absent pus, Dysfunctional neutrophils (recurrent skin and mucosal bacterial infections)

Answer 24

CGD, increases susepctability to catalase + organisms (nocardia), abnormal dihydrorhodamine test (decrease in green flourescence), Nitroblue tetrazolium dye reduction test fails to turn blue

Answer 25

preformed IgE antibodies cell degranulation results in release of histamine anaphylaxis, drug reactions, allergies, insect venom, food allergies, reactions to inhaled environmental factors

Answer 26

IgM or IgG antibodies bind to antigens on cells of particular tissue types complement system activation Goodpasture, Rheumatic fever, hyperacute transplant rejection, Graves disease, myasthenia gravis, bullous pemphigoid, pemphigus vulgaris

Answer 27

IgG antibodies bind to circulating antigens and form a complex that deposits in tissue, neutrophillic lysis or phagocytosis of cells serum sickness, polyarteritis nodosa, Poststreptococcal glomerulonephritis, SLE

Answer 28

contact of antigen with presensitized T lymphocytes T cell CD4 activation to release cytokines and attract macrophages or CD8 cells recognize antigens on somatic cells and go through cell mediated cytotoxicity acute and chronic transplant rejection, graft versus host disease, contact dermatitis, Mantoux tb skin test, stevens johnson syndrome, MS, hashimoto's thyroiditis Type 1 DM

Answer 29

denaturated bacterial product of C. tetani toxoid

Answer 30

capsular polysaccharide vaccine S. pneumoniae, H. influenzae type b, and N. meningitidis

Answer 31

polio, hep A, influenza

Answer 32

human immunoglobulin against a viral protein

Answer 33

viable but weakened microorganisms measles, mumps, rubella, varicella zoster, rotavirus

Answer 34

Neisseria bactermia

Answer 35

double stranded DNA virus that causes mono infection is associated with hodgkin lymphoma, burkitt lymphoma, primary central nervous system lymphoma, gastric cancer, nasopharyngeal carcinoma

Answer 36

delayed inflammatory sequela of group A streptococcus (pyogenes) pharygitis 2-4 weeks after infection, sx include: fever, malaise, fatigue, pancarditis, migratory polyarthiritis, skin findings. commonly cause mitral stenosis (diffuse fibrous thickening and distortion of the mitral leaflets, and narrowing of the mitral valve orifice)

Answer 37

caused by HHV 8, malignant spindle cell tumor, originates from endothelial cells, predominantly in immunosuppressed pts, cause solitary or multiple nodular purplish blue-violet painless skin plaques

Answer 38

Hep B and C are risk factors along with obesity and chronic alcohol use, sx of fatigue and liver injury

Answer 39

potential complication of infectious endocarditis or vascular trauma (drugs), sx change whether peripheral or central aneurysm

Answer 40

Hemolytic disease of newborn some of Mom's IgG can cross placenta fetal A and B antigens are not fully developed at birth so direct Coombs test is usually only weakly positive

Answer 41

"fifth disease" infiltrates erythroid progenitor cells in bone marrow which leads to suppression of erythropoiesis anemia with low reticulocyte count myocarditis leading to dilated cardiomyopathy flu like sx "slapped-cheek" rash with perioral sparing smallest known DNA virus, non-enveloped with linear single-stranded genome, causes erythema infectiosum aka fifth disease

Answer 42

results from a substitution of glutamic acid with valine at the 6th amino acid of beta globin protein polymerization of deoxygenated hemoglobin, normally not symptomatic until 5 months of age when Hemoglobin F production decreases and hemoglobin S production begins Hemoglobin F formation can be prompted via HYDROXYUREA Howel-Jolly bodies on blood smear (purple dot in RBC, described as NUCLEAR REMNANTS)

Answer 43

can be prompted via pharmacology (sulfa drugs) impaired regeneration of reduced glutathione G6PD catalyzes the first step of pentose phosphate pathway oxidation of glucose 6 phosphate to 6-phosphogluconolactone with the concomitant reduction of NADP to NADPH

Answer 44

Beta would have an abnormal hemoglobin electrophoresis Beta - decreased production of Beta globin proteins occurs due to mutations at promotor site of Beta globin gene, homozygous is major (skeletal deformities, hepatosplenomegaly, severe anemia at 6 months of age), minor is heterozygous and cause minor microcytic anemia findings Alpha - cis deletion of alpha globin genes is common in asian populance and is normally clinically silent, loss of 2 alleles brings mild symptoms, 3-4 alleles lost causes aberrant hemoglobin formation that would be visible on hemoglobin electrophoresis and cause clinical symptoms ***loss of 1 = alpha minima, 2 = alpha minor, 3 = HbH, 4 = Barts (fetal hydrops)** **HbA = (alpha2, beta2), HbA2 = (alpha2, delta2), HbF (alpha2, gamma2)**

Answer 45

microcytic, hypochromic anemia, normal hemoglobin electrophoresis, increased RDW (due to decreased RBC production), and decreased ferritin

Answer 46

JAK 2 (gain of function mutation) nonreceptor tyrosine kinase increased acivity erythropoietin independent proliferation of the myeloid cell lines increase blood cell mass hyperviscosity and slow blood flow increase risk of thrombosis and poor oxygenation elevated myeloid cell lineages (pancytosis) including hemoglobin yet the EPO is low Clinical features: PRURITIS (worse when skin is in contact with warm water), sx of thrombotic and hemorrhagic complications

Answer 47

Cluster of differentiation 1a is a protein expressed by Langerhans cells that mediates the presentation of antigens to T cells. Unregulated proliferation of Langerhans cells leads to Langerhans cell histiocytosis, which typically manifests in childhood with lytic bone lesions (most commonly in the skull), skin rash, fever, hepatosplenomegaly, and lymphadenopathy.

Answer 48

hypercalcemia, anemia, elevated serum creatinine, and lower back pain!!!! plasma cell dyscrasia characterized by overproliferation and diffuse infiltration of monoclonal plasma cells in the bone marrow plasma cell proliferation increases the secretion of proosteoclastogenic factors (e.g., TNF-α, IL-1, RANKL) which leads to osteolysis, and, consequently, hypercalcemia and diffuse bone pain neoplastic plasma cell infiltration in the bone marrow suppresses hematopoiesis, resulting in pancytopenia Kidney injury from deposition of light chain excess production of monoclonal protein by malignant plasma cells leads to increased serum viscosity and, consequently, elevated ESR BACK PAIN WITH RADIOLUCENT LESIONS IN THE VERTEBRAL BODIES, LYTIC LESIONS WOULD HAVE A ROUND PUNCHED-OUT RATHER THAN BAND-LIKE APPEARANCE

Answer 49

Factor X conversion issue Hemophilia

Answer 50

autosomal-recessive bleeding disorder caused by deficient fibrinogen receptor GpIIb/IIIa in platelets, leading to defective platelet !! aggregation !! and subsequent increased mucosal bleeding (e.g., epistaxis, gingival bleeding), petechiae, and ecchymoses. Bleeding time increased , no change in platelets/PT/PTT

Answer 51

subset of primary ciliary dyskinesia triad: situs inversus (dextrocardia), chronic sinusitis, and bronchiectasis may also have reduced fertility, chronic ear infections, and conductive hearing loss

Answer 52

ASD - impaired growth of the septum, associated with down syndrome and fetal alcohol syndrome, primum ASD usually associated with other defects (15-20%) and secundum is usually isolated (70%), low pressure minor left to right shunt, SYSTOLIC EJECTION MURMUR OVER SECOND LEFT ICS STERNAL BORDER WITH WIDELY SPLIT S2 THAT IS FIXED VSD - ventricular septal defect, more commonly in the membranous part (pars membranacea), defect leading to left to right shunt resulting in RV essentric hypertrophy and pulmonary hypertension, more common with down/edward/patau syndromes, HARSH HOLOSYSTOLIC MURMUR OVER LEFT LOWER STERNAL BORDER PFO - variant where the foramen ovale remains open beyond 1 year of age, problems with fusion of primum and secundum,

Answer 53

PFO between left and right atrium PDA between Aorta and pulmonary artery

Answer 54

RVOTO: right ventricular outflow tract obstruction due to pulmonary infunidibular stenosis RVH: right ventricular hypertrophy (also RIGHT AXIS DEVIATION on ECG) VSD: ventricular septal defect Overriding aorta most common congenital heart lesion associations: ASD, PDA, anomalous coronary arteries

Answer 55

central cyanosis, weakness, clubbing ASSOCIATION WITH DOWN SYNDROME endocardial or atrioventricular cushion defect left to right blood shunt that over time leads to right ventricular hypertrophy and then reversal of the shunt

Answer 56

hypertrophic obstructive cardiomyopathy left sided heart hypertrophy

Answer 57

increase in capillary hydrostatic pressure Right ventricle output reduced - systemic vascular congestion - increase in capillary hydrostatic pressure - fluid leakage into the interstitium - edema

Answer 58

CO goes down as there is less preload PCWP goes down as there is less blood going into pulmonary arteries SVR goes up as the body tries to compensate for loss of volume CVP goes down as there is less venous return to the right atrium

Answer 59

Dilated: eccentric hypertrophy, most common, notable associations: chagas disease, coxsackie B virus, hemochromatosis, wet beriberi. Notable S3 heart sound Hypertrophic: 60-70% of cases are familial (genes encoding myosin binding protein C and beta-myosin heavy chain), notable S4 heart sound with possible mitral regurgitation as valve has trouble closing Restrictive: PLEASe Help!! Postradiation fibrosis, Loffler endocarditis, Endocardial fibroelastosis, Amyloidosis, **Sarcoidosis, Hemochromatosis. can have low voltage ECG despite thick myocardium

Answer 60

portion of free wall affected by MI outpouches between 2 weeks and several months after MI most form on anterioror apical walls due to occlusion of the LAD

Answer 61

very similar signs of regular MI blood circulation cut off, causing MI, acute onset chest pain and tachypnea pain typically retrosternal, tightness, pressure

Answer 62

1st week after MI neutrophils and fibrin found in pericardium adjacent to eh necrotic myocardium

Answer 63

3-5 days VSD chest pain, new onset systolic murmur, heart failure, left to right shunt

Answer 64

slurred upstroke of QRS complex (delta wave) and shortened PR interval

Answer 65

cyclic alteration of the QRS axis can result from prolonged QT interval

Answer 66

fever, malaise, weight loss pulse-synchronous throbbing dull headache, temporal tenderness, jaw claudication associated with polymyalgia rheumatica (x>50y/o women with diffuse joint pain)

Answer 67

absence of p-ANCA involves multiple organs but NO LUNGS ASSOCIATED WITH HEPATITIS B AND C muscle biopsy shows transmural inflammation of the arterial wall with leukocytic infiltration and fibrinoid necrosis high ESR, proteinuria, and hematuria

Answer 68

malaise, arthralgias, skin lesions, renal (glomerular crescent) and cardiac symptoms UPPER RESPIRATORY TRACT disease (sinusitis, otitis media) and oculer involvement (conjunctivitis, diplopia) P and C-ANCA (mostly C) biopsy: necrotic, partially granulomatous vasculitis of small and medium sized vessels

Answer 69

tobacco smoking male <40 years old intermittent claudication may lead to gangrene rayaud phenomenon segmental thrombosing with vein and nerve involvement

Answer 70

p-ANCA and c-ANCA (rarely) asthma association formerly Churgg strauss

Answer 71

aka aortic arch syndrome or pulseless disease large and medium vessels most common in women < 40 years old Imaging (e.g., MR angiography) is used to confirm the diagnosis; findings include vascular wall thickening and contrast enhancement, and luminal stenosis or occlusion syncope, angina, raynaud, skin findings

Answer 72

pANCA similar to GPA but without granulomas fibrinoid necrosis without granulomas

Answer 73

Type I - hyperchilomicronemia, AR, deficiency of lipoprotein lipase or apolipoprotein C-II, no increased risk of atherosclerosis, chylomicron elevated, triglycerides massively elevated, CREAMY TOP LAYER of plasma

Answer 74

Type IIa - AD, defective LDL receptors or ApoB-100, missing LDL receptors, premature atherosclerosis may lead to MI early (x<20 years old), tuberous/TENDON XANTHOMAS ESPECIALLY ACHILLES TENDON, corneal arci LDL elevated, triglycerides normal clear overnight plasma

Answer 75

Type IIb AD defective LDL receptors or ApoB-100, missing LDL receptors, premature atherosclerosis may lead to MI early (x<20 years old), xanthelasma LDL and VLDL elevated, cholesterol massively elevated, triglycerides elevated clear overnight plasma

Answer 76

Type III AR defective !!ApoE!! premature atherosclerosis, palmar and tuberoeruptive xanthomas chylomicrons, VLDL, cholesterol and triglycerides elevated turbid overnight plasma

Answer 77

Type IV AD hepatic overproduction of VLDL or defective ApoA-V premature atherosclerosis, tuberoeruptive xanthomas, acute pancreatitis (if triglycerides > 900 mg/dL), features of hyperglycemia elevated VLDL and massively elevated Triglycerides turbid overnight plasma

Answer 78

cut during 30% of thyroid dissections external branch of SLN innervates cricothyroid muscle directly adjacent to superior thyroid artery at upper pole of thyroid lobe

Answer 79

sx of hypocalcemia thyroidectomy with unintentional loss of some parathyroid glands superior parathyroid glands are most commonly found inferior to the superior thyroid artery and the recurrent laryngeal nerve

Answer 80

innervates all intrinsic muscles of the larynx except the cricothyroid muscle also carries sensory input from larynx below the vocal cords passes close to the inferior thyroid artery on its ascent to the larynx BILATERAL DAMAGE may cause difficulty swallowing, and shortness of breath UNILATERAL DAMAGE could result in ineffective cough

Answer 81

damage can cause weakness of shoulder shrug passes through posterior triangle of the neck (clavicle inferiorly, sternocleidomastoid muscle anteriorly, trapezius posteriorly) most common injury during biopsy of cervical lymph nodes

Answer 82

thyrotropin receptor autoantibodies that activate TSH receptor ***Neonates born to mother's with Grave's disease are at risk of neonatal hyperthyroidism due to placental transmission of thyroid stimulating immunoglobulins metabolically active free t3 increases the basal metabolic rate and lipolysis (weight loss, high blood pressure, increased body temp) TSH receptor antibodies also bind to orbital TSH receptors and stimulate adipocyte proliferation and orbital fibroblast secretion of glycoaminoglycans causing expansion of retro-orbital tissue, also PRETIBIAL MYXEDEMA ***DERMAL ACCUMULATION OF GLYCOAMINOGLYCANS HLA-DR3 and HLA-B8 Histology: tall, follicular, epithelial cells with scalloped colloid spaces cardiac effects: increased contractility, increased HR, increased systolic pressure, increased pulse pressure, DECREASED SYSTEMIC VASCULAR RESISTANCE

Answer 83

thyroid stimulating hormone or TSH

Answer 84

subacute lymphocytic thyroiditis enlarged painless thyroid gland hyperthyroidism secondary to transient thyroxine release from destroyed thyroctes autoantibodies to THYROID PEROXIDASE, anti-microsomal antibodies NONGRANULOMATOUS THYROID INFLAMMATION Histology: lymphoid aggregates with germinal centers and Hurthle cells HLA-DR5

Answer 85

GRANULOMA FORMATION and multibucleated giant cells hyperthyroidism caused by thyroxine release from destroyed thyroctes TENDER GOITER and jaw pain

Answer 86

***can result in hyperprolactinemia: low Thyroid leads to increased TRH and increased TSH, increased TRH by hypothalamus leads to increased TSH in anterior pituitary, excessive TRH can stimulate lactotroph cells of anterior pituitary to release prolactin***

Answer 87

hyperplasa of parafollicular (C) cells that release calcitonin (inhibit osteoclast activity) ovoid cells of C cell origin and therefore without follicle development, amyloid in the stroma stains with congo red MEN2 (RET genes) for 25% and sporadic for 75% mostly 50-60 years of age

Answer 88

most common, prior history of radiation is risk factor palpable lymph nodes due to metastatic spread can be multifocal RET/PTC rearrangements and BRAF mutations, also associated with ionizing radiation 30-50 years of age cells with nuclear inclusions and psammoma bodies on histology along with orphan annie eyed nuclei "Papi and Moma adopted Orphan Annie

Answer 89

hematogenous metastasis especially to Lungs and Bone (lytic lesions) rarely multifocal vascular and capsular invasion 40-60 years old uniform follicles PAX-PPAR[gamma rearrangement and !!RAS mutation!!

Answer 90

rapid local growth sx of compression of structures of neck (dysphagia, dyspnea) lymph and hematogenous metastasis very poor prognosis normally after 60 years of age undifferentiated giant cell, areas of necrosis and hemorrhage TP53 mutation

Answer 91

constitutively active TSH receptors can lead to this nodular neck swelling, painless histology: focal patches of hyperfunctioning follicular cells distended with colloid

Answer 92

Thyroid-binding globulin elevated Free T3 normal Free T4 normal Total T3+T4 elevated hyperestrogenic state stimulates synthesis of thyroid binding globulin by the liver and increases the glycosylation of TBG which slows its clearance, as more T3 and T4 bind to TBG the level of free thyroid decreases, therefore more TSH is released and new equilibrium is set

Answer 93

normal free T4 levels in setting of decreased TBG free T3 and total T3+T4

Answer 94

hyperCA due to abnormally active PTH glands PTH high CA high Phosphate Low ALP high **PTH induces RANKL expression in osteoblasts, RANKL to RANK on osteoclasts activates osteoclasts*** tx with parathyroidectomy

Answer 95

Hypocalcemia and/or hyperphosphatemia cause reactive hyperplase of PTH glands with overproduction of PTH CKD, Calcium deficiency, Vitamin D deficiency Ca normal or low PTH high Phosphate normal or high in CKD, low in other causes ALP high Treat the underlying cause ***RUGGER JERSEY SPINE = ALTERNATING SCLEROTIC AND RADIOLUCENT BANDS IN THE LUMBAR AND THORACIC VERTEBRAL BODIES

Answer 96

Hypercalcemia caused by autonomous and refractory secretion of PTH secondary to untreated secondary hyperparathyroidism persistent sHPT CA high PTH very high Phosphate high ALP high usually tx with surgery THINK SECONDARY HYPERPARATHYROIDISM BUT haS HYPERCALCEMIA!!

Answer 97

mostly post surgery tetany, laryngospasm, seizures, arrhythmias are acute chronic - extrapyramidal disorders, ocular disease CA low PTH low or inappropriately normal Phosphate typically elevated

Answer 98

end-organ resistance to PTH despite sufficient PTH synthesis due to defective Gs protein alpha subunit

Answer 99

Posterior - stores then releases ADH (made in supraoptic and paraventricular nucleus of hypothalamus), and oxytocin (same as ADH) develops from neural ectoderm (neurohypophysis) Anterior - release ACTH, TSH, LH, FSH, and MSH from basophilic cells release prolactin, and GH from acidophil cells

Answer 100

paraneoplastic syndrome opsoclonus-myoclonus syndrome urine may have elevated homovanillic acid and vacillylmandelic acid (produced when neuroblastoma cells metabolize catebholamines "Homer Wright rosettes" on histology. halo like clusters of neuroblast cells surrounding a central pale area containing neuropil

Answer 101

rare malignant mesenchymal tumor of primitive muscle cells primarily occur in orbital cavity children in first year of life blastic skeletal muscles cells arranged in nests and sheets

Answer 102

most common renal malignancy in children 2-5 years old commonly incidental finding large abd mass, hematuria, abd pain histology: abortive glomeruli and tubules with spindle cell stroma ***can metastasis to lung or liver*** ***ORIGINATE FROM RESIDUAL METANEPHRIC BLASTEMA

Answer 103

most common hepatic malignancy in children elevated AFP

Answer 104

fatigue, nausea, weight loss, orthostatic hypotension, hyperpigmentation cortisol(normal = 3-23micrograms/dL) failure to increase after COSYNTROPIN stimulation test confirms diagnosis hyperpigmentation is due to excess MSH (byproduct of ACTH synthesis

Answer 105

functional neroendocrine tumor derived from pancreatic alpha cells secretes glucagon which increases gluconeogenesis and glycogenolysis thus resulting in hyperglycemia chronic diarrhea, weight loss, neuropsychiatric symptoms, DVT, normocytic anemia (glucagon inhibitory effect on erythopoiesis), and necrolytic migratory erythema

Answer 106

pancreatic beta cells produce insulin and facilitate weight gain and hypoglycemia

Answer 107

pancreatic delta cells secrete somatostatin weight loss and glucose intolerance abd pain, steatorrhea, cholelithiasis

Answer 108

gastric G-cells secrete gastrin weight loss and recurrent diarrhea abd pain, dyspepsia (and discomfort >1 month)

Answer 109

enterochromaffin cells produce serotonin weight loss, diarrhea, skin lesions caused by niacin deficiency, flushing, wheezing

Answer 110

insulin dependent autoimmune response with production of autoantibodies (anti-glutamic acid decarboylase or anti-GAD, and anti-islet cell cytoplasmic antibody or anti-ICA) that destroy beta cells in pancreatic islets leading to insulin deficiency and decreased glucose uptake in tissues HLA-DR3 and HLA-DR4

Answer 111

peripheral insulin resistance central obesity cause - increase plasma levels of free fatty acids to impaired insulin dependent glucose uptake increased serine kinase activity in fat and skeletal muscle cells phosphorylates insulin receptor substrate 1 decreasing affinity of IRS-1 for PI3K leading to decreased expression of GLUT4 channels Panreatic beta cell dysfunction: accumulation of pro-amylin in the pancreas leading to decreased endogenous insulin production

Answer 112

HFE gene - membrane protein that regulates iron uptake by facilitating interaction of transferrin with its receptors gene is mutated leading to DEFECTIVE BINDING OF TRANSFERRIN TO RECEPTOR and signals decreased iron stores Response is the liver stops producing the hormone hepcidin allowing iron reabsorption resulting in iron overload hyperpigmented skin, DM, risk of cirrhosis, LIVER BIOPSY SHOWS BLUE HEMOSIDERIN DEPOSITS inability to excrete iron, transferrin/hepcidin/iron storage all increased but iron binding capacity is decreased

Answer 113

impaired binding of copper to ceruloplasmin AR mutations in the ATP7B gene which also leads to impaired biliary copper excretion hepatic damage, CNS manifestations, renal damage, kayser-Fleischer rings (1-2mm copper color on periphery of iris)

Answer 114

serine protease inhibitor that is made in liver and protects cells from breakdown by neutrophil elastase mutation in SERPINA1 gene Several genotypic expressions: PiMM 100% expression of normal protein PiMS 80% normal protein PiSS, PiMZ, PiSZ 40-60% normal levels of protein PiZZ 10-15% normal levels of protein Autosomal codominant Liver: accumulation of AAT in ER leading to hepatocyte destruction (hepatitis and liver cirrhosis) Lungs: deficient AAT to uninhibited neutrophil elastase activity to destruction of pulmonary parenchyma to panacinar emphysema Clinical Features: cough, wheeze, dyspnea, diminished breath sounds, barrel chest, prolonged neonatal jaundice, hepatitis, cirrhosis Diagnostics: serum low AAT levels, Electrophoresis decreased alpha 1 peak,

Answer 115

paroxysmal headaches, palpitations, sweating, HTN, pallor catecholamine secreting tumor originating from chromaffin cells (epinephrine, norepi, dopamine) MEN2B

Answer 116

metaplastic columnar epithelium in lower esophagus chronically exposed to stomach acid in GERD heart burn

Answer 117

mucosal fragility and inflammation, dysphagia barium swallow may show formed rings or small strictures in consequent ridges/furrows ("corrugated esophagus") Histology: infiltration of eosinophils in epithelium

Answer 118

loss of esophageal smooth muscles cells in lower 2/3 of esophagus and incompetence of lower esophageal sphincter subtype of systemic sclerosis cutaneous sclerosis of NECK, FACE, DISTAL LIMBS with sparing of trunk, raynaud phenomeneon anticentromere autoantibodies CREST syndrome: CALCINOSIS CUTIS, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia ***diffuse systemic sclerosis cutaneous sclerosis of TRUNK, FACE, EXTREMITIES SCLERODERMA RENAL CRISIS IS COMMON (collagen deposition in kidney parenchyma) INTERSTITIAL LUNG DISEASE rapid onset and normally with raynaud phenomenon****

Answer 119

mucosal lacerations at the gastroesophageal junction epigastric pain, foreceful hematemesis, unstable vitals (hypovolemic shock) associated with frequent foreful vomiting

Answer 120

break in continuity of mucosal lining in stomach or duodenum, clean based gastric ulcer common with H. pylori infection or use of NSAIDS *H. pylori is strongest predisposing factor 25-50% of gastric and 50-75% of duodenal ulcers*** epigastric pain, hematemesis

Answer 121

chronic polyarthritis that precedes development of diarrhea/abd pain/weight loss PAS positive stain with foamy macrophages in lamina propria confirms diagnosis Tropheryma whipplei is an intracellular, gram positive bacillus

Answer 122

Entamoeba histolytica or Giardia lamblia severe diarrhea

Answer 123

anti-tissue transGLUTaminase antibodies (most common), also anti-endomysial antibodies, and anti-deamidated gliadin peptide antibodies weight loss, diarrhea, abd pain histology include villous atrophy, crypt hyperplasia, lymphoctic infiltration

Answer 124

anti-cyclic citrullinated peptide antibody (ACPA), Anti-IgG antibodies long standing arthralgia, chronic inflammation, pain, swelling, stiffness, destruction to synovial joints clinical features: RHEUMATOID NODULES AND PULMONARY FIBROSIS HLA-DR4 and HLD-DR1 elevated CRP and ESR sx BETTER throughout the day

Answer 125

anti-saccharomyces cerevisiae antibodies in Chrohn's and p-ANCA in ulcerative colitis Chrohn's - typically terminal ileum and colon with rectal sparing, transmural inflammation with cobblestone sign, constant RLQ pain with palpable abd mass, typically nonbloody diarrhea, Th1 cell activity releases proinflammatory IFNgamma UC - colon and rectum, confined to mucosa and submucosa, no granulomas, friable mucosa with crypt abscesses, painful defecation and pain location LLQ, bloody diarrhea with mucus and urgency, increased secretion of IL-4 and IL-13 mediated by Th2 cells

Answer 126

impaired migration of neural crest cells (parasympathetic) in a rostral to caudal direction aganglionic distal sigmoid and rectum internal anal sphincter fails to relax in response to rectal distention leading to intestinal obstruction and dilation of colon immediate relief after finger is removed from checking shpincter tone

Answer 127

caput medusa after shift to SUPERIOR EPIGASTRIC VEINS Esophageal varices after shift to left gastric vein then azygous vein superior, inferior, and middle rectal veins dilate causing rectal varices

Answer 128

gallstone obstructing ileus common to find when there is a fistula between gallbladder and small intestine

Answer 129

fibrosis of common bile duct RUQ pain, and fever markedly elevated cholestasis parameters (ALP, GGT, and bilirubin)

Answer 130

togavirus German (3 day) measles fever, postauricular and other lymphdenopathy, arthralgias, fine maculopapular rash that start on face and spreads out to involve trunk and extremities TORCH: congenital rubella "blueberry muffin" baby, sensorineural deafness, cataracts, PDA

Answer 131

hhv3 chickenpox and shingles fever, malaise, exanthem typically starts on trunk and includes scalp while sometimes oral mucosa that is severely pruritic latent in dorsal root or trigeminal ganglia

Answer 132

exanthem subitum maculopapular truncal rash sometimes spreads to face and extremitites normally fading after 2 days abrupt fever, rash starts 2 days after fever, cervical and postauricular lymphadenopathy

Answer 133

4C's: cough, coryz, conjunctivitis, "C"oplik spots Koplik spots are bright red spots with blue-white center on buccal mucosa PNA is most common death VITAMIN A DEFICIENCY CAN BECOME WORSENED - NORMALLY TRANSPORTED VIA MICELLE-MEDIATED TRANSPORT COMMON CAUSE OF BLINDNESS IN UNDEVELOPED COUNTRIES

Answer 134

post travel to warm climate, nonpruritic skin rash also nontender and fine scaling most commonly increased growth of Malasezia globosa (normal skin flora) abnormal pigmentation involving trunk, back, and/or abdomen

Answer 135

autoimmune destruction of melanocytes nonscaling, depigmented macules

Answer 136

increased sebum production presence of comedones in areas with sebaceous activity

Answer 137

deficiency of tyrosinase that produces melanin from dihydroxyphenylalanine greatly reduced or complete lack of pigmentation in the skin, hair, and eyes of newborns

Answer 138

type IV hypersensitivity antigen uptake via langerhans cells intensely pruritic erythematous and papular rash in pattern of contact with external irritant

Answer 139

"Ringworm" common caused by trichophyton round pruritic erythematous plaque that grows centrifugally with central clearing and scaling and raised border

Answer 140

PV - IgG autoantibodies to desmosomal components, loss of cell-cell adhesion, ORAL CAVITY INVOLEMENT, Nikolsky sign positive (rubbing on skin makes blisters) Bullous pemphigoid - IgG autoantibodies to hemidesmosomes,

Answer 141

Basal cell is most common type, slow growing non healing ulcer with rolled borders, pearly white nodule with superficial telangiectasis or a scaling plaque, location usually above the line joining the earlobe and corner of mouth Squamous cell is second most common type, ulcer normally on cheek and lower lip that has everted edges

Answer 142

benign skin tumor common in elderly greasy wax like darkly pigmented macule

Answer 143

often arise from skin damaged by UV light grows rapidly over weeks dark pigmented or red nodule that occasionally ulcerate at the surface

Answer 144

tumor of the hair follicle common on cheeks and nose

Answer 145

antibodies against post-synaptic ACh receptors compete with ACh at post-synaptic membrane Clinical Features: WEAKNESS AND REDUCED endurance with repetitive muscle use, EXTRAOCULAR EYE WEAKNESS Tx: Acetylcholinesterase inhibitors

Answer 146

rare neuromuscular junction disorder characterized by proximal muscle weakness and autonomic dysfunction autoantibodies directed against presynaptic voltage gated calcium channels (anti-VGCC) - decreased calcium influx - decrease presynaptic vesicle fusion - impaired acetylcholine release in NMJ Clinical Features: PROXIMAL muscle weakness, (strength IMPROVES with ongoing use), reduced or absent reflexes, DRY MOUTH, constipation, ED ASSOCIATED WITH SCLC

Answer 147

upon initiation of muscle contraction calcium is released from Sarcoplasmic reticulum and binds to troponin C which shifts tropomyosin and exposes myosin binding site, myosin head binds actin allowing for shortening of the sarcomere

Answer 148

Anti-dsDNA antibodies in 70% Anti-Smith antibodies 30% (both are highly specific) nonspecific antibodies include: anti-ssDNA, antibodies directed against Fc region of IgG (rheumatoid factor), phospholipid-binding proteins, and antihistone antibodies (drug induced via hydralazine, phenytoin, procainamide multisystem autoimmune disease more common in women of childbearing age fever, fatigue, malar rash, myalgia, arthritis affects skin, kidney, joints "Full house" immunofluorescence pattern (IgG, IgM, IgA, C3, C1q)

Answer 149

rheumatoid arthritis - proliferation of granulation tissue sarcoidosis - noncaseating granulomas osteoarthritis - normally no WBC, cartilage fragements gout - monosodium urate crystals, negative birefringent, crystal shaped pseudogout - calcium pyrophosphate crystals, positive birefringment, rhomboid shaped scleroderma - noninflammatory superficial fibrin deposits

Answer 150

response to infection (chlamydia, shigella, campylobacter, among others) HLA-B27 genotype in 2/3 of pts

Answer 151

increased risk of malignancies particularly ovarian adenocarcinomas PROXIMAL muscle weakness, HELIOTROPE RASH OVER EYELIDS, flat topped erythematous papules over dorsal surface of interphalangeal joints (Gottron papules) anti-Mi-2 and anti-Jo-1 antibodies (anti-nuclear antibodies)

Answer 152

enlargement of skull deposition of lamellar bone interspersed with disorganized, woven bone creates a mosaic pattern accelerated rate of bone remodeling resulting in poor quality bone

Answer 153

neural tube defects same as valproic acid

Answer 154

sensorineural hearing loss

Answer 155

discolored teeth

Answer 156

pregnancy lithium exposure

Answer 157

Uric - tear drop ish calcium oxalate - envelope calcium phosphate - phosphate needles Magnesium ammonium phosphate - coffin lid struvite stone Cystine - hexagonal

Answer 158

TrepOnema pallidum - congenital syphilis premature birth low birth weight, neonatal JAUNDICE, seizures, chorioretinitis, HEPATOMEGALY, hemolytic anemia, mucocutaneous rash (MACULOPAPULAR RASH ON PALMS AND SOLES), SADDLE NOSE, HUTCHINSON TEETH (widely spaced) Hutchinson triad - dental abnormalities, sensorineural deafness, interstitial keratitis hydrops fetalis spirochetes on dark field microscopy

Answer 159

Toxoplasmosis Others (trepOnema pallidum, varicella zOster, parvO b19, and listeriOsis) Rubella Cytomegalovirus Herpes Simplex ***great rule out is if mother has been vaccinated***

Answer 160

Toxoplasmosis gondii classic triad: Chorioretinitis, hydroCephalus, diffuse INTRACRANIAL CALCIFICATIONS (ring-enhancing lesions), Covulsions TRASMITTED THROUGH CAT FECES blueberry muffin rash

Answer 161

ListeriOsis contamination of RAW MILK PRODUCTS spontaneous abortion and premature birth sepsis, DISSEMINATED ABSCESSES, LISTERIA MENINGITIS, RESPIRATORY DISTRESS vesicular and pustular skin lesions (granulomatosis infantiseptica

Answer 162

Varicella zOster virus low birth weight, CHORIORETINITIS, CATARACTS, and seizures 80% have dermatomal HYPERTROPHIC SCARS hypoplastic limbs

Answer 163

ParvOvirus B19 aplastic ANEMIA FETAL HYDROPS, MISSCARRAIGE high output cardiac failure

Answer 164

Rubella sensorineural deafness (COCHLEAR DEFECT), CATARACTS, HEART DEFECTS (PDA, pulmonary artery stenosis) CNS abnormalities blueberry muffin rash

Answer 165

Cytomegalovirus jaundice, hepatosplenomegaly chorioretinitis sensorineural deafness PERIVENTRICULAR CALCIFICATIONS, blueberry muffin rash microcephaly seizures

Answer 166

Herpes simplex virus premature birth skin, eyes, mouth involvement (VESICULAR SKIN LESIONS) localized CNS involvement (MENINGOENCEPHALITIS) multiple organ involvement, sepsis

Answer 167

associated with insulin resistance and obesity Diagnostics" Rotterdam criteria Oligovulation or anovulation Hyperandrogenism (acne, alopecia, hirsutism, increased testosterone) enlarged or polystic ovaries on ultrasound obese, hirsuism, acne, hair thinning, alopecia, depression, azanthosis nigricans (darkening of some spots of skin), infertility

Answer 168

"chocolate cyst" yellow-brown (sometimes reddish-blue) blebs most pt are asymptomatic chronic pelvic pain that worsens before onset of menses infertility dysmenorrhea uterosacral tenderness

Answer 169

high risk strains of HPV (16,18,31, 33) early onset of sexual activity, multiple pregnancies, smoking, STD's

Answer 170

gestational trophoblastic neoplase can arise from molar pregnancy, abortion, ectopic, prior pregnancy bleeding form these is common

Answer 171

most common type of ovarian germ cell tumor contain any type of tissue (hair, teeth, sebaceous glands) palpable mass sx of hyperthyroidism struma pearl may be present

Answer 172

X-linked recessive insensitivity to androgens female phenotype blind ended vaginal pouch uterine agenesis crytochid testes primary amenorrhea infertility scant or missing pubic hair

Answer 173

AR CYP19A1 gene mutation defective or absent aromatase (decreased estrogen and increased androgen production) 46XX - ambiguous external genitalia, normal internal genitalia, amenorrhea 46XY - abnormal sperm production, small or undescended tests Both - tall stature, oseoporosis, hyperglycemia, weight gain and fatty liver

Answer 174

AR decreased conversion of Testosterone to dihydrotestosterone female external genitalia MALE INTERNAL GENITALIA pseudovaginal perineoscrotal hypospadias development of secondary sexual male characteristics in puberty

Answer 175

47 XXY trisomy barr body present with male phenotype testicular dysgenesis testosterone deficiency gynecomastia reduced facial and body hair testicular atrophy mitral valve prolapse FIBROSIS OF SEMINIFEROUS TUBULES CAUSING DECREASED LEYDIG CELL FUNCTION (RESULTING IN LOW TESTOSTERONE)

Answer 176

45 XO nondisjuction during meiosis no Barr body chromosomal nondisjunction, X chromosome monosomy, impaired ovarian development, malfunctioning streak gonads with connective tissue instead of normal germ cells, Estrogen and progesterone deficiences clinical features: female phenotype, average to short height, delayed puberty, primary amennorhea, infertility (can with IVF), webbed neck coartation of aorta, and BICUSPID AORTIC VALVE, hypertension, low set posterior hairline high arched palate osteoporosis SHIELD CHEST horseshoe kidney type II diabetes

Answer 177

46XY - mutation of SRY gene on chromosome Y impaired testicular development and underproduction of testosterone and anti-mullerian hormone persistance of mullerian ducts (develops female genitalia despite Y chromosome 46XX - female phenotype impaired maturation of secondary sexual characteristics primary amenorrhea

Answer 178

46xx or xy hypogonadotropic hypogonadism with hyposmia or anosmia Failure of GnRH-secreting nuerons to migrate from olfactory placode to their normal anatomic location in the hypothalamus can be defect in KAL-1 gene or FGFR-1 gene(fibroblast growth factor receptor-1)

Answer 179

Factitious - pt consciously produce symptoms, purposely injure themselsves or self administer insulin for primary gain which is to be cared for Conversion - function neurological disorder that involves neuro symptoms that are not fully explained by objective findings, findings are subconciously produced and not fabricated

Answer 180

HTN, abd obesity, insulin resistance with hyperglycemia, increased serum triglyceride levels and decreased HDL

Answer 181

AD mutation in TSC1 or TSC2 mutation defective tuberin-hamartin complex Classic findings: ASH LEAF SPOTS, Shagreen patches, CNS hamartomas (subependymal nodules lining lateral ventricles and cortical glioneuronal hamartomas), GIANT CELL ASTROCYTOMAS, INTELLECTUAL DISABILITY

Answer 182

Beta 1 receptor agonist

Answer 183

Peripheral - Carotid bodies and aortic body detect ph/Oxygen/Carbon dioxide levels and stimulate a change in breathing Central: Medullary has stimulatory receptors for inspiration (dorsal) and expiration (ventral). These receptors send impulses down phrenic nerve to diaphragm. Pontine respiratory group sends messages to medullary for rate and depth as well as the chemoreceptors

Answer 184

Pseudo - direct mast cell degranulation (example is morphine after anesthesia Real - IgE mediated type 1 hypersensitivity

Answer 185

often vitamin d deficiency means bone softening

Answer 186

persistence of spongiosa in the medullary cavity impaired osteoclast activity abnormal and overdense bone

Answer 187

subperiosteal bone resorption and cystic degeneration

Answer 188

when your bowel folds over itself more common in children 6 months to 3 years abd pain following a viral infection that leads to lymphoid hypertrophy (peyer patches) that get caught during peristalsis and are pushed forward in bowel tract most common in ileocecal junction

Answer 189

difference between systolic and diastolic pressure

Answer 190

Muscarinic effects "Dumbels": diarrhea/diaphoresis urination miosis bronchospasm/bronchorrhea/bradycardia emesis lacrimation salivation Nicotinic effects: muscle weakness/paralysis/fasiculations

Answer 191

estrogen and inhibin secreting large unilateral adnexal mass Granulosa cells: cuboidal cells with nuclear grooves (coffee bean nuclei) Call-Exner Bodies: granulosa cells form follicle like structures around eosinophilic material

Answer 192

secrete alpha feto protein shiller duval bodies: resemble glomeruli, mesodermal core with central capillary

Answer 193

nonbenzodiazepines GABAa receptor agonists primary hyponotic that doesn't produce other sx benzos produce:anxiolytic, muscle relaxant, anticonvulsant

Answer 194

remelteon melatonin receptor agonism

Answer 195

24-72 hours following a long bone or pelvic fracture

Answer 196

a1>b1>b2 increase in Systemic vascular resistance decrease in heart rate (reflex mediated decrease)

Answer 197

anti viral guanosine analog once entered to Herpes virus it is phosphorylated via viral-encoded thymidine kinase then impairs DNA polymerase mediated replication

Answer 198

Liver: increase glycogenolysis, decrease lipogenesis, increase glucogenesis Fat: increase lipolysis Heart: increase heart rate, increase contractility **useful for beta blocker overdose** ***released from Pancreatic ALPHA cells***

Answer 199

upregulate beta 2 receptors **chronic asthma Beta 2 agonist use can result in fibrotic remodeling of lower airways making them less responsive to beta 2 agonists***

Answer 200

skin, bones, ligaments, tendons, dentin, cornea, blood vessels, scar tissue associated diseases: osteogenesis imperfecta

Answer 201

cartilage, vitreous humor, and nucleus pulposus associated diseases: skeletal dysplasia

Answer 202

skin lungs, intestines, blood vessels, bone marrow, lymphatics, granulation tissue associated diseases: Vascular Ehlos-Danlos syndrome (TYPE IV)

Answer 203

basement membrane associated diseases: alport syndrome

Answer 204

AD COL1A1 or COL1A2 gene mutation decreased formation of hydrogen and disulfide bonds decreased synthesis of type 1 collagen growth delay, brittle bones, bowing of bones, fractures during childbirth, BLUE SCLERAE, progressive hearing loss tx with bisphosphonates

Answer 205

Alendronate, Risedronate, Ibandronate, Zoledronate primarily slow down bone degredation moa: bind to hydroxyapatite binding sites on surface of bone tissue to interfere with osteoclasts, inhibit mineralization impair adherence of osteoclasts to bone surface, decrease osteoclast proton production, induce osteoclast apoptosis, decrease development and recruitment of osteoclast precursor cells adverse effects: hypocalcemia, ESOPHAGEAL INFLAMMATION and cancer (oral take, to avoid sit upright and drink sufficient water)

Answer 206

AD mutation in COL5A1 and COL3A1 Vascular type is COL3A1, affects type III procollagen, classic sx with thin translucent skin and easy bruising, spontaneous organ rupture, aneurysms, dissections Classic - COL5A1 and A2, affects type V collagen, Classical like - TNXB gene affecting Tenascin X protein,

Answer 207

AD FBN1 gene on CHR 15 affecting fibrillin protein aortic aneurysm, mitral valve prolapse, berry aneurysms, tall stature, long extremities, joint hypermobility, arachnodactyly, pectus carinatum/excavatum, hyperextensive skin, ECTOPIA LENTIS (upward lens dislocation)

Answer 208

Liver macrophage derived lie within liver sinusoids

Answer 209

neuroendocrine cells that lie in basal layer of epidermis often found in association with nerve projections play a role in perception of touch

Answer 210

pigment producing cells that deliver malanosomes to keratinocytes

Answer 211

sustained involuntary muscle contractions focal means one muscle specifcally can lead to muscle hypertrophy

Answer 212

hemorsiderin laden macrophages

Answer 213

Osteoblasts that become trapped in bone matrix

Answer 214

maintenence cell help with wound healing help with maintaining BBB

Answer 215

DYnein - microtubular protein for retrograde transport (moving towards nucleus) Kinesin - microtubular protein for anterograde transport (moving away from nucleus) ****Herpes goes into latent stage via dynein and reactivation stage via kinesin*** **DYN vs KINd = dine bringing food in and kind is giving food away*** Lamin - help form fibrillar network that lines insie of nuclear envelope, also help organize genome and regulate gene transcription Selectin - adhesion cells that help migrate leukocytes on out of blood stream through endothelial cells during inflammatory response Spectrin - cytoskeletal protein inside RBC that help maintain it's shape (defects lead to sphereocytosis and elliptocytosis) Vimentin - intermediate filament expressed in mesenchymal cells, responsible for securing organelles inside the cytosol and provides protection from mechanical stress

Answer 216

Same mutation but differing degree of disesase manifestation and severity

Answer 217

one gene mutation is responsible for multiple seemingly unrelated phenotypic effects

Answer 218

same gene mutation but phenotype is not expressed in everyone with mutation

Answer 219

when the succeeding generation develops a more severe form of the disease or develops it at a younger age

Answer 220

one allele of a gene is dysfunctional due to an inherited mutation, and the other allele is switched off via an acquired mutation two hit hypothesis retinoblastoma or Li Fraumeni

Answer 221

HPV caused gential warts HPV 6 and 11 HPV likes stratified squamous epithelium (anal canal, vagina, cervix) and can be passed to baby resp system (true vocal cords)

Answer 222

malignant breast condition unilateral, painful/pruritic, eczematous rash confined to nipple and areola dx via tissue biopsy: epidermis, intraepithelial adenocarcinoma cells enlarged with abundant cytoplasm and prominent nucleoli very likely to have underlying malignancy (DUCTAL BREAST CARCINOMA)

Answer 223

primary cells involved in hepatic fibrosis transform into myofibroblasts in response to hepatic injury Myofibroblasts are capable of proliferating, promoting chemtaxis, and producing large quantities of collagen Collagen stains blue with Masson Trichrome

Answer 224

end stage of multiple liver diseases characterized by replacement of normal lobular architecture with regenerating nodules separated by bridging fibrous septa Clinical Features: ascites, gynecomastia (decreased estrogen metabolism), palmar erythema (estrogen mediated vasodilation)

Answer 225

sporadic de novo mutation of MECP2 gene on X chromosome X linked dominant almost female exclusive normal development until 6-18 months of age then loss of motor skills (characteristic "hand wringing", truncal ataxia, seizures, growth failure, intellectual and verbal disability, scoliosis

Answer 226

microdeletion at short arm of chromosome 5 Clinical features: cat like high pitched crying congenital heart defects (VSD) microcephaly Intellectual disability dysmorphic facial features

Answer 227

Autosomal recessive defect in chromosome 7 (includes deletion of elastin gene) intellectual disability hypersociability elfin facies hypercalcemia low muscle tone hyperacusis periorbital fullness and widely spaced teeth

Answer 228

CGG repeat FMR1 gene 2nd most common genetic intellectual disability after trisomy 21 premature (x<200 trinucleotide repeats) have ataxia, premature ovarian insufficiency and tremor Mature (x>200 trinucleotide repeats) have intellectual disability with varying severity, delayed language development, autistic behavior, long narrow face, prominent forehead and jaw, large everted ears, hypermobile joints, mitral valve prolapse, above average head circumference

Answer 229

meiotic nondisjunction during meiosis 1 is about 70% of cases can also happen with robertsonian translocation clinical features: upward slanting palpebral fissures, epicanthal folds, ocular hypertelorism, brushfield spots, APPEARANCE OF PROTRUDING TONGUE, brachycephaly, hypoplastic nasal bones,FLAT FACIES, short neck with excess skin at nape, TRANSVERSE PALMAR CREASE, SANDAL GAP, CLINODACTYLY (inward curvature of the 5th finger), atrioventricular septal defect is most common, duodenal atresia

Answer 230

AR PEX gene that results in impaired peroxisome synthesis CLinical Features: neonatal seizures and Hypotonia, hepatomegaly, death within 1 year

Answer 231

2nd most common genetic metabolic disorder in individuals of northern European descent CFTR defect located on long arm of chromosome 7 (most common is mutation in delta F508 codon deletion leading to absence of phenylalanine in position 508 of CFTR gene) CFTR gene is mutated (misfolded) results in absence of ATP-gated chloride channel on cell surface of epithelial cells normal Sweat Glands - Chloride goes from lumen into cell defective sweat gland - inability to reabsorb Cl so sweat has excess NaCl in sweat Normal other exocrine glands (GI and Lungs) - Cl- goes from in cell to Lumen defective other exocrine glands - Cl unable to transport intrcellularly across the membrane therefore accumulation of intracellular Cl-, formation of hyperviscous mucus, Clinical features: meconium ileus (failure to pass meconium, typically first 3 days of life with abd distension), failure to thrive, pancreatic disease: (foul smelling steatorrhea, malabsoption, abd distention, deficiency in fat-soluble vitamins ADEK), liver and bile duct abnormalities: (cholecystolithiasis, cholestasis, fatty metamorphosis of liver progressing to cirrhosis, biliary cirrhosis) intestinal obstruction, rectal prolapse Repiratory: chronic obstructive lung disease with bronchiectasis, chronic sinusitits (nasal polyps), recurrent or chronic productive cough and pulmonary infections (S. aureus is most common cause of recurrent infection in infancy and childhood, P. aeruginosa for adulthood, S. pneumoniae common as well), digital clubbing Salty sweat (electrolyte wasting) Urogenital: men usually infertile, obstructive azoospermia most common with vas deferens being absent (obstruction of ejaculatory duct), women have reduced fertility with viscous cervical mucus and amenorrhea newborn screening: Mandatory screening in USA, blood spot test via heel prick in first 48 hours of life, Elevated IRT (immunoreactive trypsinogen) means CF possible Diagnostics: sweat chloride testing (Cl- > 60 mmol/L), evidence of 2 CF causing CFTR gene mutations and sweat Cl- > 30mmol/L, positive physiologic CFTR testing with abnormal nasal potetial difference test ***sweat losses similar to the effects of loop diuretics, increased NaCl and H2O reabsorption with loss of H+ and K+

Answer 232

Genetic syndromes cause by microdeletion at 15q11-q13; Genomic Imprinting Angelman Syndrome - deletion or mutation of maternal UBE3A (chr15) and paternal gene methylation (silencing) roughly 5% cases results from paternal uniparental disomy Clinical Features; intellectual disability, pronounced epileptic seizures, ataxia, characteristic happy demeanor with frequent laughing, strabismus, wide spaced teeth, thoracic scoliosis Prader Willi syndrome- deletion or mutation of paternal gene copy and maternal uniparental disomy in about 20-35% of cases Clinical features- muscular hypotonia, hyperphagia, obesity, hypogonadism, intellectual disability, ALMOND SHAPED EYES AND DOWNTURNED MOUTH

Answer 233

CTG trinucleotide repeat expansion DMPK gene - changes in myotonin protein kinase expression AD myotonia (slow relaxation of muscles after cessation of contraction) Type 1 and 2 - myotonia, skeletal muscle weakness, myalgia, arrhythmia, cataracts, testicular atrophy or ovarian insufficiency, frontal balding, cognitive and behavioral impairment, hypogammaglobulinemia Type 1 usually occurs younger

Answer 234

most preventable cause of intellectual disability in the US failed neuronal and glial cell migration Clinical features: THIN UPPER LIP, smooth hypoplastic philtrum, down slanting short palpebral fissues, hypertelorism (increased distance between two body parts), microcephaly, VSD, heart lung fistulas, liimb dislocations, holoprosencephaly (forebrain fails to divide into two hemispheres

Answer 235

rare autosomal recessive disorder absent or dysmotile vilia defect in dynein arm of microtubules Clinical features: chronic productive cough, RECURRENT OTITIS/SINUSITIS/NASAL POLYPS, bronchiectasis, conductive hearing loss, displaced heart sound, KARTAGENER SYNDROME (SITUS INVERSUS/RECURRENT SINUSITIS/BRONCHIECTASIS, diagnosistics: nasal nitric oxide test: reduced nasal nitric oxide

Answer 236

IL-12 induces the maturation of naive T cells to helper T cells and the production of IFN gamma and TNF alpha by Th-cells IL-12 receptor deficiency AR impaired Th1 response macrophages cannot be activated by IFN-gamma so there's no cytotoxicity in cells infected with intracellular pathogens (Mycobacteria, Salmonella) underlying pathology in most cases of high Mendelian susceptibilty to mycobacterial disease Clinical features: Mycobacterial infections (developing tuberculosis after BCG vaccination, fungal infections Diagnosis: decreased IFN-gamma

Answer 237

cell signaling protein that medicates macrophage activity and expression of MHC molecules activation of macrophages increases production of macrophage elastases released by stimulated Th1 and NK cells

Answer 238

numerous genetic mutations that result in defective development of functional B and T cells X-linked recessive = most common defect, defect in common gamma chain, efective IL-2R GaMmA CHAIN receptor linked to JAK3 Autosomal recessive = ADA (adenosine deaminase) deficiency, accumulation of toxic metabolites and disrupted purine metabolism, accumulation of dATP inhibitis the function of ribonucleotide reductase, impaired generation of deoxynucleotides RAG mutation = faulty VDJ recombination Clinical features: NORMAL AT BIRTH, severe recurrent infections, failure to thrive, chronic diarrhea, lymph noes and tonsils may be absent Diagnosis: Quantitative PCR shows decrease T cell receptor excisions circles (TRECs), absent T cells, lymph node biopsy with absent germinal center, CXR shows absent thymic shadow AVOID LIVE VACCINES, GIVE IV IMMUNOGLOBULINS< BONE MARROW TRANSPLANT OR STEM CELL TRANSPLANTATION NEEDED

Answer 239

lower jaw undeveloped

Answer 240

47XX or 47XY +18 2nd most common autosomal trisomy in which fetuses can survive, after trisomy 21 meiotic nondisjunction Clinical Features: LOW SET EARS (malformed auricle), MICROGNATHIA (congenital mandibular hypoplasia), PROMINENT OCCIPUT, CLENCHED FISTS with flexion contractures and overlapping finger, ROCKER-BOTTOM FEET, congenital heart defects (VSD/ASD/Tetralogy of Fallot), myelomeningocele, omphalocele, severe intellectual disablity Diagnosis: quadruple test = decrease in free estriol/AFP/beta-HCG/and normal or decreased inhibin A ***about 13% live past 1 year of age***

Answer 241

trisomy 13 meiotic nondisjunction abnormal fusion of prechordal mesoderm, midline defects clinical features: MICROCEPHALY, HOLOPROSENCEPHALY, CLEFT LIP AND PALATE, LOW-SET MALFORMED EARS, MICROPHTHALMIA, POLYDACTYLY, congenital heart defects (VSD/PDA), rocker bottom feet, aplasia cutis congenita(scalp lesions with a punched out appearance, omphalocele, PKD, capillary hemangioma diagnostics: DECREASED PAPP-A (pregnancy associated protein A) and increased nuchal translucency *****7 P's: Patau, holoProsencephaly, cleft liP and Palate, Polydactyly, Pump disease (congenital heart disease), Polycystic kidney disease, cutis aPlasia

Answer 242

congenital visceral malformation in which organs herniate at midline abd wall through the umbilicus into a hernial sac

Answer 243

prenatal screening test performed at 15-22 weeks gestation that includes measurements of beta-HCG, alpha-fetoprotein, estriol, and inhibin A in the materal serum Left to right test order: beta-HCG, alpha-fetoprotein, estriol, and inhibin A Trisomy 21 - increase, decrease, decrease, increase Trisomy 18 - decrease, major decrease, major decrease, normal or decrease Neural tube defects - normal, increase, normal, normal Abd wall defects - normal, increase, normal, normal

Answer 244

gonadal dysgenesis and replaced by connective tissue (think turner's syndrome)

Answer 245

failure of prosencephalon (anterior portion of embryonic brain) to develop into two cerebral hemispheres

Answer 246

Congenital noninherited developmental anomy of neural crest derivatives somatic mosaic mutation of GNAQ gene, gain of function mutation in one copy of gene - malformation of capillaries Clinical Features: SKIN PORT WINE STAIN (nevus flammeus) commonly seen in CN V1 and V2 dermatomes of the face and typically unilateral, LEPTOMENINGEAL ANGIOMA (benign vascular tumor involving arachnoind and pia mater that is ipsilateral to port-wine stain), seizures/epilepsy, intellectual disability, recurrent stroke like sx, EYE EPISCLERAL ANGIOMA ***SSTURGGE-weber = Sporadic, port-wine Stain, Tram-Track calcifications, Unilateral, Recurrent strokes, Glaucoma, Gnaq gene, Epilepsy***

Answer 247

PCA affected, often results from compression via pinealoma Tectal plate and medial longitudinal fasiculus affected resulting in vertical gaze palsy, eyelid retraction (Collier sign), pupillary light near dissociation (pseudo-Argyll Robertson pupils) and convergence retraction nystagmus

Answer 248

Anterior inferior cerebellar artery affected Spinal trigeminal nerve nucleus affected resulting in ipsilateral loss of facial sensation to pain and temp Facial Nerve nuclei affected resulting in ipsilateral facial muscle weakness, decreased lacrimation and salivation, and loss of taste sensation from anterior 2/3 of tongue Vesitbulocochlear nerve nuclei and labyrinth of inner ear affected resulting in ipsilateral vertigo, nystagmus, and hearing loss Sympathetic fibers affected resulting in ipsilateral horner syndrome (miosis, partial ptosis, and anhidrosis)

Answer 249

anterior inferior cerebellar artery Facial droop means AICA has swooped involves facial nuclei

Answer 250

thiamine's active form is thiamine pyrophosphate (TPP) which serves as a cofactor for dehydrogenases such as pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase which are both essential for ATP generation thiamine deficiency leads to ATP depletion which damages aerobic tissues such as CNS neurons there fore giving glucose prior to thiamine can induce Wernicke encephalopathy the excess glucose goes to pyruvate but can't be synthesized into ATP so it goes to lactate accumulation TPP is also essential for regeneration of the antioxidant glutathione, decreased glutathione regeneration impairs free radical neutralization causing further damage

Answer 251

acute neuro syndrome cause by THIAMINE deficiency triad of confusion, ophthalmoplegia (eye paralysis), and ataxia suspect in pt with heavy alcohol use acute and reversible Labs: decreases thiamine and erythrocyte transketolase activity (thiamine dependent)

Answer 252

late development in pts with persistent vitamin B1 (thiamine) deficiency petechial lesions and small vessel hemorrhage in the mesencephalon/mamillary bodies/ventricle walls/ and dorsomedial nucleus of thalamus Sx: Confabulation (produce fabricated memories to fill in lapses of memory), anterograde and retrograde amnesia, personality changes, disorientation to time/place/person

Answer 253

Vitamin B12 cofactor in enzymatic reactions responsible for rbc formation and myelination of nervous system deficiency leads to chronic neuro sx including gait abnormalities, macrocytic anemia, mild icterus, glossitis, symmetric peripheral neuropathy, subacute comined degeneration of spinal cord, neuropsychiatric disease

Answer 254

rare type hepatic encephalopathy associated with aspirin use for viral illness in children < 19y/o accumulation of salicylate metabolites in the liver, mitochondrial injury and reversible inhibition of enzymes required for fatty acid oxidation hyperammonemia, cerebral edema, increased ICP Clinical Features: acute encephalopathy, severe vomiting, altered mental status, coma, liver failure, hepatomegaly Diagnostics: increased AST and ALT, hyperammonemia, hypoglycemia LIVER BIOPSY: MICROVESICULAR HEPATIC STEATOSIS

Answer 255

medication used to deter pt from drinking alcohol by precipitating a disulfiram-alcohol reaction (headache, nausea, vomiting)

Answer 256

damage to myelin sheath of nerves in the CNS caused by sudden rise in osmolarity of blood commonly caused by rapid correction of chronic hyponatremia sx appear 2-6 days after correction sx: altered level of consciousness, coma, locked-in syndrome, dysarthria, dysphagia, diplopia, and/or worsening quadriparesis

Answer 257

primarily used to tx anaerobes (Clostridium perfringens, Bacteroides spp.) moa: binds 50s subunit to block peptide translocation can cause pseudomembranous colitis (commonly caused by Clostridiodies difficile)

Answer 258

antipsychotic Block D2 receptor, increasing cAMP high potency (Haloperidol, fluphenazine, perphenazine, trifluoperazine, pimozide) side effects include extrapyramidal symptoms (bradykinesia, rigidity, dystonia, atheosis, chorea, ballismus, akathisia, tics, tremors) Low potency (Chlorpromazine, Thioridazine) also have anticholinergic and antihistaminergic properties **use for less chance of extrapyramidal sx**)

Answer 259

Clozapine, Olanzapine, Risperidone, Quetiapine, Amisulpride, Ziprasidone, Aripiprazole, Lurasidone, Asenapine, Iloperidone, Paliperidone D2 receptor antagonism, 5-HT2A receptor antagonism, interaction with several other D3/D4/alpha adrenergic receptors, **Aripiprazole is partial D2 agonist ***Ziprasidone - associated with prolonged QT syndrome** ***Olanzapine - associated with weight gain, sedation, dry mouth, constipation, tremors, muscle stiffness, metabolic changes ***Clozapine - neutropenia**

Answer 260

Caused by antipsychotics underlying mechanism is not well understood, central D2 receptor blockade in nigrostriatal pathway Presentation: Mental status change, encephalopathy, delirium, confusion, stupor Parkinsonism Hyperthermia Autonomic instability, tachycardia, dysrhythmias, labile blood pressure, tachypnea, diaphoresis ***FALTER - fever, autonomic instability, leukocytosis, tremor, elevated enzymes, rigidity***

Answer 261

enzyme that converts glycogen to glucose in the lysosome

Answer 262

Type II glycogen storage disease Lysosomal acid maltase (alpha-1,4-glucosidase) deficiency enzyme normall used for glycogenolysis, hydrolyzes alpha-1,4- and alpha 1,6- linkages in the acidic environment of lysosome Clinical features: Cardiac - hypertrophic cardiomyopathy, conduction blocks, cardiomegaly MACROGLOSSIA Failure to thrive proximal myopathy and hypotonia leads to resp insufficiency and early death intercranial aneurysms

Answer 263

enzyme that catalyzes the release of glucose-1-phosphate from glycogen rate limiting step in glycogenolysis

Answer 264

Type V glycogen storage disease Myophosphorylase deficiency skeletal muscle glycogen phosphorylase used in glycogenolysis Clinical Features: Generalized muscle weakness, exercise intolerance (with 2nd wind phenomenon: sx of muscle fatigue disappear after a period of activity because of increased blood flow) Demanding physical exercise may cause rhabdomyolysis and myoglobinuria Electrolyte imbalances can trigger cardiac arrhythmias Normal serum glucose levels Flat venous lactate curve with exaggerated elevations in blood ammonia during exercise glycogen accumulates in muscles but can't be metabolized

Answer 265

lysosomal enzyme responsible for the degradation of glycoaminoglycans such as dermatan sulfate and heparan sulfate deficiency is hunter syndrome

Answer 266

Hunter: x linked recessive, deficiency of iduronate-2-sulfatase results in accumulation of glycoaminoglycans Hurler: autosomal recessive, deficiency of alpha-L-iduronidase results in accumulation of glycoaminoglycans Both clinical features: (typically milder in hunter syndrome) developmental delay, facial dysmorphism, frontal bossing, elongated skull, flattened nasal bridge, broad nasal tip, thickened gingiva, anteverted nostrils, constant nasal discharge, spaced and protruding eyes, airway obstruction, hepatosplenomegaly Hunter clinical features: AGGRESSIVE BEHAVIOR, hyperactivity, NO CORNEAL CLOUDING Hurler clinical features: CORNEAL CLOUDING, hypertrichiosis Diagnostics: increased urinary levels of dermatan sulfate and heparan sulfate, enzyme assay to confirm specific enzyme deficiency

Answer 267

lysosomal enzyme responsible for hydrolysis of glycoaminoglycans deficiency is hurler syndrome

Answer 268

enzyme responsible for catalyzing the final step of glycogenolysis and gluconeogenesis, the conversion of glucose-6-phosphate to glucose

Answer 269

Type Ia - Glucose-6-phosphatase deficiency Type Ib - Glucose-6-phosphatse translocase deficiency (normally trasnports G6P into ER where it's hydrolyzed by G6-phosphotase Clinical features: renomegaly and hepatomegaly, SEVERE FASTING HYPOGLYCEMIA, mild ketosis, SEVERE HYPERLIPIDEMIA (especially triglycerides) leads to doll-like facies, HYPERURICEMIA, lactic acidosis, anemia, failure to thrive, dysfunctional glycogenolysis and gluconeogenesis

Answer 270

lysosomal enzyme responsible for degradation of sphingolipid glucocerebroside during glycolipid metabolism deficiency = gaucher disease gene deficiency = increased risk of Parkinson disease

Answer 271

AR most common lsosomal lipid storage disease INCREASED INCIDENCE OF TYPE 1 WITH ASHKENAZI JEWISH POPULATION deficiency of Beta-glucocerebrosidase which results in accumulation of glucocerebroside Type 1: non-neuropathic All Types: Hepatosplenomegaly, bones crises, osteoporosis ,avascular necrosis of the femur, anemia, thrombocytopenia, pancytopenia, pulmonary manifestations, growth delays Type 3: neurodegeneration Diagnostics: lipid rich macrophages with an enlarged cytoplasm with inclusions that resemble crumpled tissue on paper on microscopy tx: recombinant glucocerebrosidase

Answer 272

AR COMMON IN ASHKENAZI JEWISH POPULATION hexosaminidase A deficiency leads to accumulation of GM2 ganglioside to progressive neurodegeneration Clinical features: RAPID REDUCTION OF physical and mental abiliteies begins around the age of 3-6 months Developmental delay, MACULA SHOWING A "CHERRY RED" SPOT, hypotonia, seizures, hyperreflexia, hyperacusis, NO HEPATOMEGALY diagnostics: lysosomes with onion-skin appearance

Answer 273

responsible for breakdown of alpha-galactosides in lysosome deficiency is Fabry disease

Answer 274

X linked recessive mainly affects boys deficiency in alpha-galactosidase results in accumulation of ceramide trihexoside (aka globotriaosylceramide) Clinical features: Early triad - DYSTHESIA (caused by small fiber neuropathy), HYPOHIDROSIS, ANGIOKERATOMAS Other early - corneal clouding, cataract Late sx: cardiomyopathy, CEREBROVASCULAR LESIONS, NEPHROPATHY

Answer 275

slow writhing worm like movements

Answer 276

excessive hair growth

Answer 277

reduced tolerance to sound

Answer 278

AR COMMON IN ASHKENAZI JEWS deficiency of sphingomyelinase results in excess sphingomyelin Clinical features: progressive neruodegeneration, Cherry red spot in macula, hepatosplenomegaly diagnostics: lipid lagen macrophages (foam cells), Zebra bodies (abnormal configuration of myelinoid membranes into parallel palisading lamellae in the lysosomal cytoplasm

Answer 279

inadequate sweating

Answer 280

abnormal physical touch sensation

Answer 281

hard bumps on skin

Answer 282

inhibits tryptophan hydroxylase which is the rate limiting enzyme of serotonin synthesis used to reduce peripheral serotonin production in patients with carcinoid syndrome to treat diarrhea

Answer 283

it can mimic somatostatin inhibits Adenyl Cyclase, inhibition of voltage gated calcium channels, stimulation of voltage dependent potassium channels injection that is used to treat high levels of growth hormone in acromegaly

Answer 284

carcinoid tumors are neuroendocrine tumors that arise from mine precursor uptake and decarboxylation cells (APUD cells) Tumor locations 55% GI tract are Carcinoid tumors 15% Pancreas as Insulinoma or Glucagonoma 10% in bronchopulmonary system as Carcinoid lung tumor or SCC Thyroid medullary carcinoma Adrenal Glands Pheochromocytoma Clinical Features: Carcinoid syndrome - diarrhea, cutaneous flushing, dyspnea, wheezing, palpitations Carcinoid heart disease - Endocardial fibrosis (especially right heart), tricuspid insufficiency and/or pulmonary stenosis, sx of Right sided heart failure Abd Pain ***in lung - cough, dyspnea, hemoptysis, recurrent pneumonia Diagnostics: increased 5-hydroxyindoleacetic acid (5-HIAA) in 24 hour urine Biopsy: prominent rosettes composed of numerous small monomorphic cells with salt-and-pepper chromatin

Answer 285

enzyme of catecholamine synthesis (dopamine to norepinephrine) inhibitors of this enzyme are used for pheochromocytoma

Answer 286

polypeptide hormone primarily produced by duodenum, pancreas, and parasympathetic neurons in sphincters relaxes sphincters and increases the secretion of water and electrolytes

Answer 287

part of kinin cascade which releases Bradykinin from high molecular weight kininogen Bradykinin in excess can cause dyspnea, abd pain, diarrhea

Answer 288

enzyme that converts tryptophan to serotonin excess serotonin can be seen in carcinoid tumors inhibited by Telotristat

Answer 289

converts histidine to histamine histamine can cause anaphylactic symptoms (dyspnea, wheezing, curateous flushing, abd cramps, diarrhea

Answer 290

tumor arised from chromaffin cells 90% adrenal medulla locatization (physiologically activated by acetylcholine) 25% are hereditary germline mutations (MEN2a, MEN2b, NF1, VHL) CLinical features: episodic HTN, paroxysmal throbbing headache/diaphoresis/heart palpitations/tachycardia/pallor, signs of polycythemia if EPO is secreted ***5P's - Pheochromocytoma: increased blood Pressure, head Pain (headache), Perspiration, Palpitations, and Pallor*** Diagnostics: plasma free metanephrines or urinary fractionated metanephrines (24 hour collection), fractionated catecholamines, Homovanillic acid and vaillylmandelic acid

Answer 291

derived from the neural crest found in adrenal medulla and other ganglia of SNS release epinephrine and norepinephrine

Answer 292

neuroendocrine tumor that secretes VIP Excess VIP leads to relaxation of gastric and intestinal smooth muscles and cAMP activity (similar to cholera toxin) which leads to secretory diarrhea and inhibition of gastric acid production Tumor normally found in pancreas Clinical Features: WHDA syndrome (watery diarrhea, hypokalemia, achlorhydria), tea colored watery diarrhea (>700 mL/day) leading to dehydration Diagnostics: increased serum VIP concentration, hypokalemia, hypercalcemia, hyperglycemia, gastric achlorhydria or hypochlorhydria TX: tumor resection or Octreotide

Answer 293

responsible for cleaving DNA to relieve supercoils after DNA is seperated by DNA helicase inhibited by chemotherapeutic drugs like etoposide and teniposide Irinotecan and topotecan inhibit cellular replication by reversibly binding to DNA topoisomerase I

Answer 294

adding nucleotides 3 prime hydoxyl group of the leading strand dicontinuous synthesis of the Okazaki fragments of the lagging strand using the RNA primers creating by primase

Answer 295

joins the completed short DNA fragments (Okazaki fragments) of the lagging strand during DNA replication (after removal of the RNA primers

Answer 296

remove RNA primers from lagging strand and fills the gap left behind

Answer 297

unwinding of duplex DNA at origin of replication

Answer 298

binding to single stranded DNA to prevent reannealing

Answer 299

lysosomal enzyme responsible for the degradation of sphingolipid (cerebroside sulfate) deficiency = metachromatic leukodystrophy

Answer 300

AR lysosomal storage disease which arylsulfatase A deficiency leads to buildup of sphingolipid (cerebroside sulfate) causing central and peripheral demyelination Clinical Features: hypotonia, developemental delay or regression, ataxia, seizures, choledocholithiasis (obstruction in common bile duct), optic nerve atrophy no cure and death usually occurs 5 to 20 years after diagnosis

Answer 301

lysosomal enzyme responsible for degradation of galactocerebroside leads to accumulation of toxic myelin degradation products (psychosine)

Answer 302

AR deficiency of Galactocerebrosidase leading to accumulation of toxic myelin breakdown products Clinical features: developmental delay, peripheral neuropathy, visual impairment, hypertonia pt usually die around age of 2 years

Answer 303

stimulates glucose uptake by increasing expression of GLUT4 on SKELETAL MUSCLE AND ADIPOSE TISSUE as well as increasing glucokinase activity in the liver ***CORTICAL NEURONS AND ERYTHROCYTES UTILIZE GLUT1 AND WORK INDEPENDENT OF INSULIN*** ***HEPATOCYTES AND PANCREATIC BETA CELLS UTILIZE GLUT2 AND WORK INDEPENDENT OF INSULIN*** decreases protein kinase A activity which raises fructose-2,6-bisphosphate concentration which promotes glycolysis by increasing activity of phosphofructokinase-1 inhibits gluconeogenesis by reducing activity of fructose-1,6-bisphosphatase promotes glycogenesis by activating glycogen synthase inhibits lipolysis in adipose tissue by blocking expression of adipocyte triglyceride lipase promotes lipogenesis by stimulating the activity of acetyl CoA carboxylase, HMG CoA reductase and endothelial lipoprotein lipase incease glycolysis, increase glycogenesis, decrease lipolysis and decrease gluconeogenesis

Answer 304

requires b12 (cobalamin) as cofactor in metabolism of odd chain fatty acids deficiency in b12 results in accumulation of methylmalonyl-CoA and its precursor propionyl-CoA

Answer 305

mitochondrial enzyme that participates in the TCA cycle and uses Vitamin B2 (RIBOFLAVIN) as cofactor

Answer 306

key enzyme necessary for the production of the active form of Vit D deficiency could result in Rickets

Answer 307

participates in amino acid/carbohydrate/and lipid metabolism and uses Vitamin B7 (biotin) as a cofactor

Answer 308

involved in conversion of propionyl-CoA to methylmalonyl-CoA and uses biotin as cofactor deficiency of Biotin would impair said enzyme resulting in accumulation of propionyl-CoA causing demyelination within the spinal cord

Answer 309

converts dopamine to norepinephrine and uses vitamin C as a cofactor (ascorbic acid) deficiency results in scurvy

Answer 310

decrease calcium, phosphorus, and calcitriol increased PTH reduces intestinal calcium reabsorption and low Ca increases PTH secretion PTH decreases phosphate reabsoption in PCT

Answer 311

active form of Vitamin D

Answer 312

Niacin precursor to NAD+ and NADP+ deficiency can cause pellagra and glossitis

Answer 313

niacin deficiency glossitis and "the 3 D's" (diarrhea, dermatitis, dementia, with possible Death)

Answer 314

Thiamine cofactor for several enzymes of carbohydrate and amino acid metabolism can cause wenicke-korsakoff syndrome and beriberi

Answer 315

Biotin cofactor for various carboxylation enzymes including acetyl-CoA carboxylase, methylcrotonyl CoA carboxylase and propionyl-CoA carboxylase deficiency can cause dermatitis, enteritis, and alopecia

Answer 316

Ascorbic Acid cofactor in hydroxylation and redox reactions coenzyme to LYSYL TO PROLYL HYDROXYLASE which is essential for collagen synthesis

Answer 317

Riboflavin precursor to flavin mononucleotide and flavin adenine dinucleotide deficiency can cause cheilosis and conjunctivitis with corneal vascularization, glossitis, lip lesions

Answer 318

Pyridoxine (pyridoxal phosphate is active form) important COFACTOR in the TRANSAMINATION reactions performed by AST and ALT required for glycogen phosphorylase reactions, decarboxylation, and synthesis of cystathionine/heme/niacin/and histamine

Answer 319

folic acid or tetrahydrofolate(active form) cofator for methylation reactions including nucleic acid synthesis deficiency can result in megaloblastic anemia and materal deficiency can mean neural tube defects for child

Answer 320

swelling and fissuring of lips

Answer 321

antiapoptotic protein that inhibits the intrinsic pathway of apoptosis by maintaining the impermeability of the mitochondrial membrane overexpression (seen in follicular lymphoma) impairs apoptosis and leads to tumor growth

Answer 322

proapoptotic proteins initiation results release of mitochondrial cytochrome C Cytochrome C leads to activatin of caspases which cause destruction of the cytoskeleton, enter the nucleus, and cause DNA laddering and nuclear fragmentation

Answer 323

dense eosinophilic cytoplasm, nuclear shrinkage, and plasma membrane blebbing

Answer 324

denaturation of cytoplasmic proteins biopsy show cellular swelling, cell membrane rupture, inflammation

Answer 325

complex of a death receptor and its ligand (FasL) triggers extrinsic death receptor pathway of apoptosis by directly activating caspases inhibition of Fas/FasL interaction would decrease apoptosis

Answer 326

tissue ischemia in solid organs (heart, liver, spleen, kidneys) acidosis from lack of aerobic oxygen, increase lactic acid and then denaturing proteins temporary preserved cellular architecture either without cell nuclei or with nuclei that are still undergoing karyolysis

Answer 327

red typically occurs due to venous occlusion in tissue with multiple blood supplies (intestine, liver, lung) pale in solid organs with singular blood supply (kidney, spleen, heart)

Answer 328

fatty tissue (breast, subcutaneous tissue) following blunt trauma or surgery histology: lipid laden macrophages with foreign body giant cells as well as fibrosis and dystrophic calcifications

Answer 329

most common in pt with chronic limb ischemia (dry gangrene) or GI tract ischemia (wet gangrene) HIstology: preservation of cellular architecture along with the absence of nuclei

Answer 330

lysosomal enzymes are released in order to degrade and liquefy necrotic material classically seen in cerebral infarctions but can also occur in bacterial abscesses histology: liquified tissue with multiple macrophages and cyst formation

Answer 331

commonly seen in blood vessels in pt with vasculitides or malignant hypertension immune complex and/or fibrin deposition in the blood vesel wall histology: protein rich, eosinophilic acellular material in damaged vessels

Answer 332

granulomatous infection such as nocardiosis, tuberculosis (including renal tuberculosis), and histoplasmosis Histology: acellular material that appears granular and is surrounded by macrophages, T-cells, and giant cells

Answer 333

decreased %Oxygen saturation, normal Oxygen partial pressure, decreased oxygen content, and normal Hb concentration abundance of methemoglobin (altered form of hemoglobin in which ferrous iron Fe2+ is oxidized to the ferric form Fe3+ since ferric form cannot bind oxygen the O2 saturation and O2 content decrease leading to functional anemia pt show clinical signs of cyanosis Pts with G6PD deficiency are prone along with medications (benzocaine, lidocaine, inhaled nitric oxide, nitroglycerin, dapson, sulfonamides) Clinical features: least to most methemoglobin levels cyanosis, mild confusion, headaches, dyspnea, tachycardia, CNS depression, seizures, chest pain, arrhythmias, death

Answer 334

precursor of vasodilator bradykinin

Answer 335

glycoprotein component in innate immune system binds free iron with high affinity limiting the amount of ions available for microbial metabolism store in neutrophil granules and is released as an acute phase reactant

Answer 336

gaseous free radical in some cells as a signaling molecule (produced by NO synthase) once activated neutrophils secrete NO to kill pathogens with the free radical

Answer 337

leukotriene B4, IL-8, kallikrein, C5a, platelet-activating factor

Answer 338

arachidonic acid derivative produced by activated platelets potent vasoconstrictor

Answer 339

early inflammatory stage (days 1-3) help digest bacteria, foreign debris, and necrotic tissue by secreting lysosomal enzymes

Answer 340

mainly derived from recruited monocytes in inflammatory and proliferative stages (days 1-3, and 3-7) assist in host defense, removal of apoptotic cells, and promotion of cellular proliferation and angiogenesis by secreting cytokines such as VEGF

Answer 341

derived from local mesenchymal stem cells or migrate from nearby dermis in response to cytokines and growth factors (TGF-Beta) produce collagen and other extracellular matrix components

Answer 342

secretes VEGF to promote angiogenesis during proliferative phase Angiogenesis involves vasodilation, basement membrane degradation, endothelial cell migration and proliferation, capillary tube formation and anastomosis then basement membrane formation

Answer 343

derived from fibroblasts generate a contractile force that draws wound edges together present in proliferative stage (days 3-7) and are lost through apoptosis when wound healing is complete excessive proliferation and persistence of myofibroblasts lead to patholgic fibrosis and contracture ****skin is tense with thick epithelialezd scar and ROM is restricted***

Answer 344

mast cell degranulation and increased histamine separation of endothelial junctions resulting in increased vascular permeability and paracellular movement of fluid

Answer 345

multinucleated giant cell formed from fusion of epithelioid macrophages associated with granulomatous diseases such as tb and sarcoidosis

Answer 346

IL-2 analog IL-2 is cytokine released by all T-cell subtypes and triggers destruction of tumor vells via activation of cell types that recognize MHC I receptors

Answer 347

induction of fever and stimulation of acute phase reactants (also IL-1beta, TNF-alpha, and IFN-gamma)

Answer 348

inhibition of both MHC II expression and cytokine release from Th1 cells anti-inflammatory along with TGF-beta

Answer 349

stimulates the activation of NK cells and cytotoxic T cells

Answer 350

supprots the growth of bone marrow stem cells similar to GM-CSF

Answer 351

tumor oncology staging T - size or direct extent of primary tumor N - involvement of regional lymph nodes M - presence of distant metastasis SPread determines stage and Stage detemines survival more than grade N and M are typically most important prognostic factors for survival Grading G1 well differentiated (low grade) G2 moderately differentiated G3 poorly differentiated (high grade) G4 undifferentiated/anaplastic (high grade) Gx differentitation cannot be assessed

Answer 352

Tumor supressor genes that code for DNA repair protein associated with increased risk of breast cancer and ovarian cancer with lesser extent to colon,pancreas,stomach, and prostate cancer **BReast CAncer** mutation to BRCA+ would result in accumulation of double stranded DNA breaks

Answer 353

tumor supressor gene - regulates cell apoptosis and cell cycle arrest at the G1 phase (by activating p21) and inhibits entry in the S phase of cell cycle mutations lead to unrestrained division of cells underlying defect in Li-Fraumeni syndrome also associated with osteosarcomas, breast cancer, brain tumors, and adrenocortical carcinomas

Answer 354

AD mutation to p53 tumor supressor gene one abormal copy of TP53 gene is inherited and 2nd allele is somatically mutated or deleted resulting in unregulated cell proliferation and Cancer ***BLAST53 - Breast cancer/Brain tumors, Leukemia/Lymphoma, Adrenocortical carcinoma, Sarcome, and Tp53***

Answer 355

mechanism of single stranded DNA repair in which endonucleases excise DNA containing damaged bases (pyrimidine dimers) defective in pts with Xeroderma pigmentosum (cells can't fix dimers after UV light exposure) pt has dry skin/photosensitivity/early skin cancers

Answer 356

DNA mismatch repair gene associated with hereditary nonpolyposis colorectal cancer (lynch syndrome or HNPCC) pts also have increased risk for colorectal, endometrial, gastric, urothelial, and ovarian cancers

Answer 357

replaces deaminated (no amino group) DNA bases throughout the cell cycle defects associated with some familial colorectal cancer

Answer 358

proto oncogene mutations associated with MEN2A and MEN2B syndromes and medullary thyroid carcinoma

Answer 359

proto oncogene encodes GTPase that regulates cellular growth mutations associated with colon cancer, non-small cell lung cancers, pancreatic cancers

Answer 360

tumor suprressor gene that negatively regulates the PI3k/AKT pathway mutations associated with prostate cancer and Cowden syndrome

Answer 361

retinoblastoma protein which deactivates E2F transcription factors thereby preventing G1 phase to S phase transition mutations associated with retinoblastoma and osteosarcoma

Answer 362

most common from lung cancer, 2nd from breast, followed by melanoma and cancers of kidney and colon approximately 50% of brain tumors are from metastatic disease

Answer 363

Prostate specific antigen

Answer 364

polypeptide consisting of one or two immunoglobulin light chains detection in urine is suggestive of plasma cell disorders such as multiple myeloma or waldenstrom's macroglobulinemia

Answer 365

IgA and IgG is typical multiple myeloma Bence Jones myeloma (free ligh chains in urine) are 15-20% of multiple myelomas neoplastic proliferation of plasma cells bone marrow infiltration by malignant plasma cells leads to suppression of hematopoiesis to leukopenia to thrombocytopenia to anemia Cell proliferation leads to pro-osteoclastogenic factors to osteolytic lesions to hypercalcemia hyperviscosity syndrome Clinical features: bone pain (primarily back pain), hypercalcemia, foamy urine

Answer 366

nonspecific tumor marker especially associated with pancreatic or colon cancer can metastasize to bone and present with osteoblastic metastases

Answer 367

tumor highly malignant from melanocytes risk factors are extensive sun exposure and family history Genetic mutations include BRAF gene mutations or CDKN2s gene mutations ABCDE criteria Lentigo Maligna peak incidence between 65-80 years old sun exposed areas Darkly pigmented macule, irrgular borders, varying size, gradual growth, color irrugularities, surrounding island like speckling premalignant lesion, up to 50% untreated may transform into lentigo maligna melanoma

Answer 368

Desmopressin is synthetic vasopressin Anti-diuretic hormone V2 receptor is Gs protein-coupled receptor which leads to activation of adenylate cyclase helps to reduce frequent urination and excessive thirst used to tx bet wetting

Answer 369

efficacy = maximum effect potentcy = how much of agonist drug is used to attain effect shift to the right = decrease in potency shift down = decrease in efficacy non-competitive antagonist can not be overcome by increasing dose of agonist therefore decreases efficacy of agonist (down shift) Inverse Agonist binds to same receptor but has a different binding site and typically elicits the opposite of the agonistic effect which lowers the agonist's efficacy and can't be overcome with more agonist Functional antagonist doesn't use the same receptor as the drug it's antagonizing, therefore even when agonist binds the effect would be negated by action of functional antagonist lowering the efficacy Full agonist has same potency and efficacy as original drug so curve is unchanged

Answer 370

anticholinergic agent antidote for acetylcholinesterase poisoning Effect: increased heart rate, decrease secretions of exocrine glands, decrease tone and motility of smooth muscles, MYDRIASIS AND CYCLOPLEGIA

Answer 371

anticholinergic agent nonspecific muscarinic antagonist used for motion sickness area of effect: area postrema

Answer 372

Muscarinic antagonists causes smooth muscle relaxation in lungs

Answer 373

Blind as a bat (mydriasis), Mad as a hatter (delirium), red as a beet (flushing), hot as a hare (hyperthermia), dry as a bone (decreased secretions and dry skin), the bowel and bladder lose their tone (urinary retention and paralytic ileus), and the heart runs alone (tachycardia)

Answer 374

shows the relationship between the concentration of a substrate and the rate of the corresponding enzyme Vmax is maximum rate at which enzyme can catalyze a reaction **can be increased with more enzyme** Km is michaelis constant which is the substrate concentration at which half of the active sites of an enzyme are bound by substrate

Answer 375

gram + dipplococci GI tract growth in bile and NaCl 6.5% may be triggered by GI/GU procedures UTI

Answer 376

gram + with branching filaments(form yellow sulfur granules), anaerobic, non acid fast oral cavity reservoir oral caries and peridontitis (oral and facial abscess) Penicillin G high dose

Answer 377

gram - enterobacteriaceae, catalase positive reservoir is water and starchy foods (bread) multidrug resistance nosocomial infections, wound infection, ocular infections

Answer 378

gram + encapsulated lancet shaped diplococci OPTOCHIN SENSITIVE ALPHA HEMOLYSIS capsular polysaccharide IgA1 protease PNA with RUSTY COLORED SPUTUM

Answer 379

gram + bacilli, obligate anaerobe, spore-forming rod facultative pathogen Toxin A (enterotoxin), Toxin B (cytotoxin) Psuedomembranous colitis TX: Metronidazole, Oral Vancomycin (inhibits cell wall synthesis or Fidaxomicin (macrolide)

Answer 380

gram +cocci, BETA HEMOLYSIS M protein bacitracin sensitive group A strep Hyaluronic acid capsule (to prevent phagocytosis) impetigo, erysipelas (bad skin lesion), acute rheumatic fever, PSGN, Penicillin

Answer 381

Streptococcal M protein Streptococcus pyogenes

Answer 382

important component of fungal cell walls

Answer 383

integrated into the outer bacterial membrane of gram-negative bacteria

Answer 384

certain gram - bacteria Shigella, Salmonella

Answer 385

gram - bacilli humans are only host spread from cell to cell (invasion of M cells, MALT) resistent to gastric acid Shiga toxin - inhibtis 60s subunit in ribsomes by cleavage of adenine in rRNA shigellosis (bloody diarrhea), reactive arthritis, HUS

Answer 386

gram - bacilli highly infectious dose required for infection, not resistant to gastric acid produces H2S (hydrogen sulfide) flagellar motility salmonellosis (diarrhea, possibly bloody), typhoid fever, osteomyelitis (in pt with sickle cell)

Answer 387

Streptococcus pneumoniae

Answer 388

binds to Fc portion of IgG Staphylococcus aureus

Answer 389

Vibrio chloerae, Salmonella, Campylobacter

Answer 390

gram - bacilli contaminated water or undercooked seafood oxidase + cholera toxin making "rice water" diarrhea grows in alkaline media - acid labile - requires large infectious dose

Answer 391

gram - bacilli, oxidase positive, curved or spiral shaped, polar flagellum grows best at 37-42 celcius poultry or unpastuerized milk, contact with infected person or animal enterocolitis, reactive arthritis, precedes guillan barre

Answer 392

P. aeruginosa

Answer 393

gram - bacilli, oxidase positive, produces pyocyanin (blue-green pus), sweet odor when grown in culture biofilm formation, Exotoxin A(inactivates EF2 - inhibition of protein synthesis - cell death), phospholipase C (destroys cell membranes) chronic PNA in CF pts, nosocomial burn wound pts,

Answer 394

gram - diplococcus maltose and glucose fermenter lipoligosaccharide pili adhesions meningitis and waterhouse-friderichsen syndrome ***waterhouse . . . - complication during meningitis more common with this bacteria, life threatening septicemia, DIC and hemorrhagic necrosis of the adrenal glands resulting in acute adrenal insufficiency***

Answer 395

Bacillus anthracis

Answer 396

gram + bacilli, rod shaped, aerobic soil colonies show a half of projections (medusa head) Anthrax toxin - exotoxin consisting of: edema toxin, lethal factor, protective antigen

Answer 397

part of phospholipid bilayer and cell wall of many gram + bacteria

Answer 398

Pesudomonas bacteremia

Answer 399

Light As Air - heat Labile increases cAmp and Adenylate cyclase STABLE as Granite - heat STABLE upregulates cGmp and Guanylate cyclase

Answer 400

Pseudomonas aeruginosa inactivates EF2 - inhibition of protein synthesis - cell death

Answer 401

gram - bacilli lactose fermenter pink colony on macConkey agar produce beta-galactosidase (ferment lactose and glucose) EPEC - adherence to intestinal microvilli, inhibits absorption, destruction of microvilli EHEC - shiga like toxin

Answer 402

Corynebacterium diphtheriae same as exotoxin A (inactivates EF2 - no protein synthesis - cell death)

Answer 403

gram + bacilli club shaped rods black colonies on cysteine tellurite agar loffler medium

Answer 404

broad based budding yeast on KOH smear PNA, flu like sx

Answer 405

ingestion of contaminated food typically caused by inadequate refrigeration of foods like mayonnaise, potato salad, custard

Answer 406

ingestion of contaminated food sx onset within 6-10 hours transmitted via unpasteurized dairy products or ready-to-eat deli meats

Answer 407

conversion of folic acid to dihydrofolate, and dihydrofolate to tetrahydrofolate using NADPH

Answer 408

***Trimethoprim can act on epithelial cells in collecting duct the same as a potassium sparing diuretic can. Adverse effect can include hyperkalemia***

Answer 409

acute angle hyphae fruiting bodies with septate

Answer 410

more likely to get if older HHV-5 blood transfusions, resp droplet, sexual transmission, breast milk Immunocompetent pt: 90% asymptomatic, 10% mononucleiosis (fever, malaise, cervical lymphadenopathy) Immunocompromised: PNA: interstitial pneumonitis - CD4 < 50 Retinitis: PIZZA PIE appearance (retinal hemorrhages, fluffy/granular white opacities around retinal vessels resembling cotton wool spots, retinal detachment) Esophagitis and/or Colitis: odynophagia, abd pain, bloody diarrhea, endoscopy shows linear ulcers encephalitis: impair cognitive fx, neurodeficits Owl Eye appearance histology PRESENCE OF INTRANUCLEAR BASOPHILIC INCLUSIONS

Answer 411

Bictegravir, Dolutegravir, Elvitegravir, Raltegravir -tegravir inhibition of viral integrase - blockade of viral DNA incorporation in host genome - inhibition of viral replication Adverse effects: elevated creatinine kinase

Answer 412

oval, budding yeast with pseudohyphae prolonged damp areas normal flora on skin

Answer 413

#1 Immunology AMboss Autoimmunity increased - synthesis of T-reg cells decreases and synthesis of autoantibodies increases

Answer 414

formerly known as Henoch-Schonlein purpura type 3 hypersensitivity

Answer 415

infection of mouth and pharynx group A beta-hemolytic strep - immune complexes containing the streptococcal antigen deposit within the GBM - complement activation (increased consumption of complement factors - destruction of glomeruli - immune complex mediated glomerulonephritis and nephritic syndrome Clinical features: 1-6 weeks after infection, nephritic syndrome (hematuria, HTN, edema, oliguria Dx: nephritic sediment with urinalysis, and decerased C3 complement antistreptococcal antibodies renal biopsy - granular deposits in glomelular mesangium and capillaries, IgG/IgM/C3 complement, "lumpy-bumpy" appearance Electron microscopy - immune complexes between the epithelial cell layer and glomerular basement membrane "subEPITHELial humps"

Answer 416

***Levodopa

Answer 417

Hyperacute Acute Chronic GVHD

Answer 418

immunosuppressant inhibits purine synthesis pathway it's converted to 6-mercaptopurine and then 6-thioguanine metabolites theses metabolites are pharmacologically active and mediate both the therapeutic and adverse effects blockade of de novo purine synthesis 6-thioguanine metabolites reduce cellular proliferation via inhibiting phosphoribosylpyrophosphate amidotransferase and acts as false nucleotides getting incorporated into actively replicating DNA and RNA making the growing nucleic acid strand nonfunctional side effects: exerts effects preferentially on rapidly dividing cells but are otherwise nonspecific and disrupt hematologic cell lines including neutrophils, erythrocytes, and platelets NEED TO MONITOR CBC PERIODICALLY

Answer 419

Reversible inhibition of inosine monophosphate dehydrogenase - blocks purine synthesis - selective inhibition of lymphocyte proliferation

Answer 420

isolated decrease in red cell production normocytic normochromic anemia characterized by a severe reduction in circulating reticulocytes and marked reduction or absence of erythroid precursors in bone marrow diagnostics: low reticulocyte count, bone marrow biopsy shows marked reduction or absence of erythroid precursors DIAMOND BLACKFAN ANEMIA intrinsic defect of erythroid progenitor cells

Answer 421

anemia from chronic inflammation inflammation - increase in cytokines and hepcidin - results in: reduced iron release from macrophages reduced intestinal iron absoption reduced erythrocyte survival diagnostics: normocytic anemia early and microcytic anemia late, low iron, low iron saturdation, low total iron binding capacity, HIGH SERUM FERRITIN, low reticulocyte count

Answer 422

converts ferrous iron to ferric iron major carrier of copper in the blood

Answer 423

Menkes disease mutation in Menkes P-type ATPase protein encoded by the ATP7A gene causes inability to transport copper from enterocytes to the liver and other cells of the body

Answer 424

Wilson disease AR mutations in the ATP7B gene on chromosome 13 reduced incorporation of copper into apoceruloplasmin resulting in decreased ceruloplasmin reduced biliary copper excretion increased free serum copper, accumulates in liver/cornea/CNS (basal ganglia, brainstem, cerebellum), Kidneys Clinical Features: hepatosplenomegaly, jaundice, ascites, sx of acute or chronic hepatitis (hepatic encephalopathy, cirrhosis, portal HTN), KAYSER-FLEISCHER RINGS!! COPPER ACCUMULATION IN DESCEMET MEMBRANE (green-brown rings in periphery of cornea), dysarthria, dystonia, PARKINSONISM, tremor, drooling, cognitive impairment, major depressive disorder, irritability, psychosis, Fanconi syndrome Dx: slight lamp examination: Kayser-Fleischer rings

Answer 425

proximal convoluted tubule cells are UNABLE TO REABSORB BICARB leading to increased bicarb excretion in urine hydrogen secretion from alpha-intercalated cells in the collecting duct can acidify the urine but can't compensate for the excessive bicarb excretion in the urine resulting in distal tubular acidosis **impaired absorption of bicarb, potassium, glucose, phosphate, and amino acid in PCT** associated with: Tyrosinemia, Type 1 glycogen storage disease, wilson disease, Multiple myeloma Drug association: ifosfamide, tenofovir, expired tetracyclines, aminoglycoside, cisplatin, and heavy metal poisoning Clinical features: Vit D resistant hypophophatemic rickets/osteomalacia, short stature, polyuria-polydipsia, dehydration Dx: hyperchloremic metabolic acidosis (normal anion gap), hypokalemia, hypophosphatemia, aminoaciduria, glucosuria, phosphaturia

Answer 426

converts porphobilinogen to hydroxymethylbilane affected by AIP

Answer 427

AD Porphobilinogen deaminase (PBG-D) affected !!!5 P's: Painful abdomen, Port wine colored Pee, Polyneuropathy, Psychological distrubances, Precipitated by factors that increase ALA synthase (CYP450 inducers)!!!

Answer 428

converts aminolevulinic acid to porphobilinogen inhibited with lead poisoning

Answer 429

iron dependent enzyme catalyzes the eighth and final step of heme synthesis pathway converts protoporphyrin to heme by inserting iron into protoporphyrin IX inhibition seen with lead poisoning and leads to sideroblastic anemia

Answer 430

battery manufacturing, metallurgy, lead ammunition, drinking water contaminated by lead plumbing, lead containing paint (common children source) inhibition of aminolevulinate dehydratase and ferrochelatase - heme synthesis disruption - increase in protoporphyrin and aminolevulinic acid in RBCs Clinical features: polyneruopathy, encephalopathy, headache, demyelination of peripheral nerves (wrist/foot drop), anemia, nephropathy, PURPLE-BLUE LINE ON GUMS (LEAD LINE OR BURTON LINE), ABD PAIN (LEAD COLIC), constipation DX: basophilic stippling of erythrocytes, microcytic/hypochromic anemia, ring sideroblasts in bone marrow

Answer 431

converts homocysteine to methionine

Answer 432

catalyzes converstion of uroporphyrinogen III to coproporphyrinogen III affected in porphyria cutanea tarda (PCT) leads to accumulation of uroporphyrinogen in skin (photosensitivity, blistering, scarring, hyperpigmentation

Answer 433

extrapyramidal side effect of antipsychotic medication restlessness, inability to sit or stand tx is to lower antipsychotic dose or add a beta blocker or benzodiazepine

Answer 434

decrease intracellular concentration of dugs due to efflux pump tumor cells may have increased frequency of glycoprotein

Answer 435

doxycycline (tetracycline) and a 3rd gen cephalosporin (ceftriaxone) Ceftriaxone or Azithromycin (macrolide) monotherapy can be used for N. gonorrhoeae if the NAAT (nucleic acid amplification testing) is negative for C. trachomatis

Answer 436

programmed cell death ligand 1 binds to T cells to inhibit immune response can be overexpressed with some cancer cells Tx for this type of cancer includes monoclonal antibodies that bind to PD-L1 so T-cells may still start immune response to kill cancer cell pembrolizumab and nivolumab are examples

Answer 437

Sx: acute painless vision loss, headache, polymyalgia rhuematica, jaw claudication Dx: Elevated ESR and C-reactive protein temporal biopsy: intimal thickening, elastic lamina fragmentation, multinucleated giant cells Tx: glucocorticoids!

Answer 438

Borreliosis, Lyme borreliosis ( Northeast and upper midwest Ixodes tick "white footed mouse" Stage 1 7-14 days after tick bite erythema migrans (target shaped lesions), flu like sx Stage 2 aka early disseminated Lyme disease 3-10 weeks after bite migratory arthralgia (can progress to lyme arthritis if left untreated), early neuroborreliosis (bells palsy, meningitis), lyme carditis, multiple erythema migrans lesions Stage 3 aka late disseminated Lyme disease months to years after the initial infection Lyme arthritis, Late neuroborreliosis Dx: serology for IgM and IgG antibodies against borrelia burgdorferi Tx: DOXYCYCLINE, amoxicillin, cefuroxime, axetil, PREFERRED IV is CERFTRIAXONE

Answer 439

Tx for narcolepsy nonamphetamine stimulant bind to dopamine reuptake pump and inhibit reuptake

Answer 440

recurrent lapses into sleeps or naps (x>3 times per week for 3 months) x>1 of the following: cataplexy - brief loss of muscle tone precipitated by strong brief emotional response Low CSF levels of hypocretin-1 Shortened REM sleep latency Hypnagogtic or hyponopompic hallucinations sleep paralysis CSF with decreased Orexin-A

Answer 441

Finasteride 5-alpha reducatase inhibitor decreases conversion of testosterone to dihydrotestosterone antiandrogen reduces prostate size, can cause decreased libido and ED

Answer 442

dihydrofolate reducatase competitive inhibitor preferred first line tx to RA antimetabolite that inhibits purine and pyrimidine synthesis preferentially inhibits growth of rapidly dividing cells (cells with high turnover rate) Side effects include: ulcers to mouth and GI tract, alopecia, pancytopenia, hepatotoxicity and pulmonary fibrosis fix OD with Leucovorin

Answer 443

NRTI prevents formation of 3-5 phosphodiester linkages needed for DNA replication prevent elongation of viral DNA genome

Answer 444

single stranded RNA virus

Answer 445

COX inhibitor impairs prostaglandin synthesis by inhibiting cyxlooxygenase inhibition of COX-1 in platelets prevents synthesis of thromboxane A2 (potent stimulator for vasoconstriction and platelet aggregation) IF PT ALLERGIC TRY CLOPIDOGREL **prostaglandins cause painful menses***

Answer 446

direct Xa inhibitor prevent platelet activation and fibrin clot formation used for prevention or treatment of thromboembolic events

Answer 447

phosphodiesterase inhibitor occasionally used in pt with symptomatic peripheral vascular disease

Answer 448

irreversibly blocks P2Y12 component of ADP receptors on platelets surface prevents platelet aggregation as effective as aspirin in prevention of cardiovascular events for pt with coronary heart disease **used several hours before percutaneous coronary intervention***

Answer 449

low molecular weight heparin (also dalteparin) indirect thrombin inhibitors that bind with antithrombin and convert it from a slow to a rapid inactivator of thrombin and factor Xa

Answer 450

platelet glycoprotein IIb/IIIa inhibitor that inhibits the final common pathway of platelet aggregation

Answer 451

Naproxen, INDOMETHACIN, Ibuprofen, Diclofenac, Piroxicam, Meloxicam, Ketorolac used for pain management in pt with osteoarthritis reversible inhibition of COX 1 and COX2 - decreased prostaglandin synthesis

Answer 452

inhibits Vitamin K epoxide reductase required for synthesis of active vitamin K resulting in decreased synthesis of vitamin K dependent clotting factors (II, VII, IX, X) used for tx or prevention of thromboembolic events and commonly for long term anticoagulation in pt with A-FIB who are at increased risk of embolic stroke ***Protein C and Protein S require Vitamin K - Protein S is cofactor for Protein C and they help to regulate abnormal clotting***

Answer 453

synergistic effect

Answer 454

adenosine receptor antagonist indirect adrenergic agent toxicity can cause arrythmias and seizures

Answer 455

N-acetylcysteine is given Liver tries to make glutathione to get rid of toxins but gets depleted after while and has damage N-acetylcysteine provides a precursor of clutithione to the liver so that NAPQI can further detoxify liver and prevent further hepatotoxicity

Answer 456

used for treatment of pulmonary hypertension

Answer 457

ex. Roflumilast block degradation of cyclic AMP leads to reduced airway inflammation and mosoth muscle relaxation in pt with COPD

Answer 458

binds ergosterol in fungal cell membranes to form holes monitor Potassium and Magnesium as they are commonly depleted with Amphotericin B RENAL TOXICITY, infusion related reaction characterized by FEVER AND CHILLS

Answer 459

1. recurrent binge eating episodes associated with 2. inappropriate weight compensatory behaviors (self induced vomiting or laxative use) 3. occur once or more a week for at least 3 months 4. sense of self worth disproportionately influenced by self image or weight 5. 1 and 2 don't occur just during episodes of anorexia nervosa Clinical features: seizures, cardiac arrhythmias, Esophagitis and/or gastritis, esophageal/gastric lacerations (Mallory-Weiss), bilateral parotid gland swelling (sialadentitis), calluses on the knuckles (Russell sign), dry and brittle nails, caries and perimylolysis from vomiting Cognitive behavioral therapy nutritional rehabilitation SSRI

Answer 460

deliberate avoidance of energy intake Clinical features: hypothermia, seizures, bradycardia, hypotension, cardiac atrophy, mitral valve prolapse, secondary amennorrhea, lanugo body hair (short, fine, nonpigmented hair), secondary osteoporosis Cognitive behavioral therapy nutritional rehabilitation Olanzipine - antipsychotic with weight gain side effect

Answer 461

norepinephrine and dopamine reuptake inhibitor Uses: smoking cessasion side effect: elevated chance of seizures

Answer 462

Dextrazoxane

Answer 463

Leucovorin or Folinic acid

Answer 464

used to treat chemotherapy side effects 5-HT3 receptor inhibitor

Answer 465

sildenafil, tadalafil tx for ED increase activity of cGMP in penile corpora formation of nitric oxide which induces formation of cGMP which promote vascular smooth muscle relaxation cGMP is inactivated by PDE (cleaves cGMP) side effects: could also inhibit PDE6 in retina which is involved with color (pt will have bluish discoloration)

Answer 466

Methotrexate folic acid antagonist directly binds with dihydrofolate reductase inhibiting formation of tetrahydrofolate inhibits DNA synthesis and cell reproduction primarily in active proliferating cells and trophoblasts

Answer 467

immunosuppression drug inhibits purine nucleotide synthesis and incorporates false purine nucleotides into DNA and RNA reduces the proliferation and activity of both B and T lymphocytes side effects include APLASTIC ANEMIA due to bone marrow suppression

Answer 468

Serum Creatinine level Metformin lowers blood glucose by reducing hepatic gluconeogenesis and increasing insulin-dependent peripheral glucose uptake. Lactic acidosis is a rare complication but not being able to clear Lactate due to RENAL INSUFFICIENCY increases the chance

Answer 469

alpha 1 antagonist Doxazosin and Terazosin increase heart rate (reflex), and decreased systemic vascular resistance ORTHOSTATIC HYPOTENSION

Answer 470

monoclonal antibody for autoimmune disease and hematologic malignancy binds to CD 20 on B lymphocytes resulting in apoptosis

Answer 471

inhibits the sodium potassium ATPase enzyme (blocks potassium in and sodium out) because calcium has a sodium channel as well the effect is increased intracellular sodium and calcium resulting in positive ionotropic effect chronic toxicity can cause nonspecific GI and neuro sx, CHANGES IN COLOR VISION, POTENTIALLY FATAL CARDIAC ARRHYTHMIAS (HYPOKALEMIA)

Answer 472

local administration of phentolamine norepi leak causes intense a1 mediated vasoconstriction leading to tissue necrosis pentolamine is an alpha receptor blocker leading to vasodilation (must be given within 12 hours)

Answer 473

Alcohol - disruption of cell membranes, denaturation of proteins Chlorhexidine - disruption of cell membranes, coagulation of cytoplasm Hydrogen peroxide - produces destructive free radicals that oxidize cellular components Iodine - Halogenation of proteins and nucleic acids

Answer 474

decreased resp rate, miosis, depressed mental state activated mu, kappa, and delta receptor types can also cause classic triad: hypothermia, hypotension, and decreased tidal volume

Answer 475

provide symptomatic improvement but do not enhance neuron survival

Answer 476

sugar alcohol used as osmotic diuretic that increases plasma osmolality increase in flow of water down it's concentration gradient from intracellular space to plasma does not cross BBB because of plasma volume expansion the serum sodium concentration decreases renal blood flow increases (increase GFR and renal tubular flow) is filtered but not reabsorbed in renal tubles

Answer 477

Monoamine oxidase inhibitors increase availability of all 3 major monoamines (dopamine, norepinephrine, and serotonin) the MAO enzyme normally breaks down monoamines. Tyramine is indirected sympathomimetic found in some foods (aged cheese, cured meats, draft beer) that is usually broken down in GI tract by MAO PT CAN GO THROUGH TYRAMINE INDUCED HTN CRISIS IF EATING TYRAMINE FOODS WHILE ON MAO INHIBITOR

Answer 478

breaks down fibrin used to break up clots or help with chest tube drainage

Answer 479

bind to cytoplasmic receptors and translocate to the nucleus where they act by inhibiting transcription of genes encoding inflammatory mediators decrease tissue production of proinflammatory prostaglandins and leukotrienes through the inhibition of COX1/COX2/PHOSPHOLIPASE A2 decrease synthesis of proinflammatory cytokines (IL-4, IL-13) increase production of anti-inflammatory mediators Adverse effects: CAN CAUSE ACUTE PSYCHOSIS

Answer 480

blocks the effect of leukotrienes (released by mast cells and eosinophils)

Answer 481

stimulates B-cell production of IgE

Answer 482

***can lead to nephrogenic diabetes insipidus as it will increase resistance to ADH leading to hypernatremia/polyuria/and decreases urine osmolality*** Urine would be dilute showing: urine specific gravity < 1.010 Urine Osmoles < 200mOsm/kg **every 6-12 months test TSH levels as Lithium can cause hypothyroidism**

Answer 483

Block Catechol-O-methyl transferase (COMT) which increases Levodopa Levodopa can dross BBB but is rapidly metabolized by COMT therefore only a small amount reaches the brain ***Levodopa can cause drug-induced immune hemolytic anemia*** Entacapone or Tolcapone used with Carbidopa (DOPA decarboxylase inhibitors) decrease Levodopa degradation and increase amount available to cross the blood-brain barrier

Answer 484

DHP - amlodipine, flodipine, nifedipine Action is on VASCULAR SMOOTH MUSCLE resulting in vasodilation Non-DHP - Verapamil, and Diltiazem Verapamil action on CARDIAC MUSCLE to reduce HR and contractility Diltiazem action is on vascular smooth muscle and CARDIAC for combined physiologic effects Adverse effects: can cause 3rd degree AV block and prolonged QT

Answer 485

elevated salicylate acid levels in body most commonly accidental child OD tx with soium bicarb alkalyzes the blood making it easier to eleminate excess salicylate in urine Sodium bicarb takes the hydrogen molecule off lipophilic salicylate making it lipophobic and unable to penetrate cell's membrane trapping it in bloodstream

Answer 486

alpha 1: peripheral vasoconstriction, increased SVR Beta 1: increase heart rate and contractility, increase cardiac output Beta 2: peripheral vasodilation, decrease SVR Dopamine 1: renal arteriolar vasodilation

Answer 487

Beta 1 > Beta 2 -/decrease in BP and increase HR

Answer 488

Low Dose: D1>B1>A1 -/decrease in BP and increase in HR High Dose: A1>B1>D1 increase in BP and -/decrease (reflex) in HR

Answer 489

Low Dose: B1>B2>A1 -/decrease in BP and increase in HR High Dose: A1>B2>A1 Increase in BP and -/decrease (reflex) in HR

Answer 490

B1=B2 -/decrease in BP and increase in HR

Answer 491

A1>B1>B2 increase in BP and -/decrease (reflex) in HR

Answer 492

A1-agonist increase in BP and decrease (reflex) in HR

Answer 493

Lorazepam, Diazepam, Chlordiazepoxide Increase duration of Chloride channel GABA-A receptor

Answer 494

Ethambutol - inhibition of arabinosyl transferase Side effect: OPTIC NEUROPATHY!! including pain and color vision loss Isoniazid - inhibition of mycolic acid synthesis Side effect: NEUROTOXICITY (GIVE VITAMIN B6 PYRIDOXINE), and HEPATOTOXICITY COMMONLY USED FOR PROPHYLAXIS OF PT EXPOSED TO ACTIVE TB Pyrazinamide - unclear moa Side effects: hepatotoxicity, hyperuricemia Rifampin - inhibition of bacterial DNA-dependent RNA polymerase Side effects: GI effects, rash, RED-ORANGE BODY FLUIDS, cytopenia

Answer 495

form of anemia caused by ineffective heme synthesis characterized by presence of basophilic stippling and ringed sideroblasts in peripheral blood smear and secondary iron overload COMMONLY SEEN WITH ISONIAZID USE RESULTING IN VITAMIN B6 (pyridoxine) DEFICIENCY

Answer 496

tear drop shaped RBCs indicate extramedullary hematopoiesis

Answer 497

type of anemia that results from mechanical damage of erythrocytes by microthrombi in small blood vessels characterized by schistocytes (FRAGMENTATION OF ERYTHROCYTES) common causes are thrombocytopenic purpura, Hemolytic uremic syndrome, DIC, and HELLP syndrome

Answer 498

TTP thrombotic microangiopathy in which microthrombi (platelet derived) form and occlude microvasculature caused by reduced activity of vWF protease ADAMTS13 pentad of symptoms: FAT RN - Fever, Anemia, Thrombocytopenia, Renal disfuctions, Neurologic abnormalities ITP antiplatelet antibodies (mostly IgG directed against GpIIb/IIIa and GpIb/IX) bind to surface of platelets - sequestration by spleen and liver - decreased platelet count - bone marrow megakaryocytes and platelet production increase in response SUSPECT ITP IN CHILD WITH THROMBOCYTOPENIA AND PETECHIAE FOLLOWING A VIRAL ILLNESS!!!

Answer 499

mainly childrean under 5y/o Bacterial exotoxins (shiga like toxin from enterohemorragic E. coli from undercooked beef or vegetables Shiga toxin produced by Shigella dysenteriae thrombotic microaniopathy characterized by formation of microthrombi occluding the microvasculature 1. infection with EHEC or another causative organism 2. mucosal inflammation facilitates bacterial toxins entering systemic circulation 3. damaged endothelial cells secrete cytokines that promote vasoconstriction and platelet microthrombus formation at site of damage 4. RBCs are mechanically destroyed as they pass the platelet microthrombi occluding small blood vessels - hemolysis (schistocytes) resulting in end organ ischemia and damage ESPECIALLY KIDNEYS - decreased GFR clinical features: diarrheal illness (usually bloody) for last 5-10 days TRIAD OF SX: THROMBOCYTOPENIA, MICROANGIOPATHIC HEMOLYTIC ANEMIA, IMPAIRED RENAL FUNCTION Dx: decreased hemoglobin/platelets/haptoglobin, increased indirect bilirubin/reticulocytes/LDH/schistocytes, increased BUN and creatinine (decreased renal fx) Tx: supportive care and antibiotic therapy

Answer 500

systemic activation of the clotting cascade, platelet consumption, and subsequent exhaustion of clotting factors that leads to widespread thrombosis and hemorrhage STOP Making Trouble - Sepsis/Snackbites, Trauma, Obstetric complications, Pancreatitis, Malignancy, Transfusion Massive Bleeding type - hyperfibrinolysis (decreased platelets, increased PT/D-dimer/fibrin derived products, decreased fibrinogen Bleeding time increased, PT/PTT increased, platelet count decreased Organ Failure type - hypercoagulability and thrombosis 4 concurrent events 1. initiation and PROPAGATION OF COAGULATION 2. systemic inflammatory activation - IMPAIRMENT OF PHYSIOLOGICAL ANTICOAGULANT PATHWAYS and ENDOGENOUS FIBRINOLYSIS 3. INCREASED THROMBIN PRODUCTION 4. IMPAIRED FIBRIN REMOVAL

Answer 501

converted from prothrombin to thrombin and then converts fibrinogen to fibrin

Answer 502

most common congenital hemolytic disorder among northern european descent AD proteins affected are SPECTRIN AND ANKYRIN gene mutation - defects in RBC membrane responsible for tying the inner membrane skeleton with the outer lipid bilayer - continuous loss of lipid bilayer components - decreased surface area of RBC in relation to volume - SPHERE SHAPED RBCs with decreased membrane stability - inability to change form when going through narrowed vessels entrapment in splenic vasculature - splenomegaly destruction via splenic macrophages - extravascular hemolysis clinical features: anemia, jaundice, splenomegaly, BLACK PIGMENT GALLSTONE

Answer 503

peak incidence 65 years no identifiable cause or risk factors in most cases but can occur after chemotherapy Down syndrome has increased risk M3-AML aka Acute promyelocytic leukemia (APL) Clicincal features: Leukemia cutis (nodular skin lesions with a purple or gray-blue color), Gingival hyperplasia (M4 and M5), signs of CNS involvement Dx: greater than 20% myeloblasts AML: t(8;21) APL: t(15;17 Auer rods and myeloperoxidase (MPO) positive Tx: AML - cytarabine (antimetabolite) and for APL (ATRA/All trans retinoic acid ***MAY CAUSE DIC (MICROANGIOPATHIC HEMOLYTIC ANEMIA OR MAHA)***

Answer 504

peak incidence 2-5 years most common malignant disease in children no identifiable cause or risk factors in most cases Down syndrome has increased risk B cell ALL 80-85% cases Clinical features: fever, painless lymphagdenopathy, bone pain, airway obstruction due to mediastinal or thymic infiltration, Meningeal leukemia, testicular enlargement (rare finding) Dx: greater than 20% lymphoblasts MPO negative bu TdT positive (marker for premature lymphocytes) B-ALL - usually positive for CD 10/19/20 T-ALL - usually positive for CD2-8 especially CD3 philadelphia translocation in 20-30% of adults Childhood B-ALL t(12;21)

Answer 505

most common in middle aged men mature B-cell tumor BRAF mutation common clinical features: symptomatic pancytopenia, MASSIVE SPLENOMEGALY, no lymphadenopathy Dx: usually TRAP positive (tartrate resistant acid phosphatase), Flow cytometry preferred, peripheral blood smear shows hairy cells with irrgeular cytoplasmic projections that cause the characteristic "hairy" appearance, Bone marrow aspiration: DRY TAP

Answer 506

most common low grade lymphoma in adults slowly progressive and painless course with alternating pattern of lymphadenopathy and splenomegaly t(14;18) involves heavy chain Ig (chr14) and Bcl-2 gene (chr18) leads to overexpression of Bcl-2 leads to dysregulation of apoptosis (Bcl-2 normally inhibits apoptosis)

Answer 507

most common in adults associated with autoimmune diseases (Sjogren syndrome, Hashimoto thyroiditis) Extranodal MZL: gastric MALT lymphoma (most common) and nongastric MALT lymphoma (thyroid, salivary gland) ***Gastric MALT lymphoma: t(11:18)(q21;21) and H. pylori infection***

Answer 508

Most common in adult men t(11;14) involving cyclin D1 (chr11) and heavy chain Ig (chr14) CD5 positive spreads rapidly; most patients are diagnosed with advanced disease (stage IV)

Answer 509

most common in children t(8;14) involving c-myc (proto oncogene on chr8) and heavy chain Ig (chr14) leading to overactivation of protooncogene c-myc and activation of transcription Forms: 1. Sporadic - typically located in abdomen or pelvis 2. Endemic - associated with EBV (most prevalent in equitorial Africa and S. AMerica) and is typically located in the MAXILLARY AND MANDIBULAR BONES STARRY SKY PATTERN ON HISTOLOGY (tingible body macrophages)

Answer 510

mostly females age 40-60 Primary: idiopathic Secondary: associated with another autoimmune disease (RA, SLE, systemic sclerosis, polymyositis, primary biliary cirrhosis) Sx: XEROPHTHALMIA (dry eyes), keratoconjunctivitis sicca (conjunctival injection, eye itching or burning sensation, sensation of sand or foreign object in eyes), XERSTOMIA (dry mouth), dental caries, oral infections, parotid gland enlargement, tongue fissures ***SYstemic sx include arthralgias, RAYNAUD PHENOMENON, and Gi involvement SIALADENITIS (swollen parotid gland) Dx: ANTI-RO/SSA ANTIBODIES; ANTI-LA/SSB ANTIBODIES (target ribonucleoprotein antigens (Ro/La) in epithelial cells, especially in the salivary glands), Antinuclear antibodies, Rf antibodies Biopsy of minor labial salivary gland shows destructoin of gland (fibrosis, parenchymal atrophy) and LYMPHOCYTIC INFILTRATION

Answer 511

MOST COMMON NHL IN ADULTS mutations in Bcl-2, Bcl-6, and p53 Primary CNS lymphoma (subtype of DLBCL) associated with EBV and AIDS focal neurologic deficits, neuropsychiatric symptoms solitary ring-enhancing lesions on MRI positive for CD19, CD20, and CD79a

Answer 512

Cholesterol - synthesized in body or through food Provitamin D3 (7-Dehydrocholesterol) - made in liver Vitamin D3 (Cholecalciferol) - processed from Provitamin 3 after UV radiation or eaten through food Calcidiol (25-Hydroxycholecalciferol) - processed in liver via enzyme 25-hydroxylase Calcitriol (1,25-dihydroxyvitamin D3) - made in kidney via 1alpha-hydroxylase PTH and cAMP increase activity and Calcium Phosphate decreases activity

Answer 513

1,25-dihydroxyvitamin D3 form of vitamin D3 that becomes hormonally active in the kidneys via 1alpha-hydroxylase increases calcium absorption in the small bowel and renal tubules and increases calcium release from bones

Answer 514

most common malignancy of the renal parenchyma peak incidence between 55-74 years old more RCCs occur sporadically risk factors include smoking and obesity Hereditary from Von Hippel-Lindau syndrome (chr3p) and Tuberous sclerosis Clinical Features: weight loss, fever, night sweats, anemia, Tumor causing include hematuria/flank pain/palpable renal mass adenocarcinomas usually arise from the epithelial cells of PCT Clear cell renal cell carcinoma - 70% of RCCs, Clear cells (polgonal cells arranged as cords or tubules (non-papillary growth, clear glycogen and/or lipid filled cytoplasm aka scant cytoplasm))

Answer 515

disease resulted from deletion of VHL gene on chr3 (tumor suppressor) - impaired uniquitination and elimination of hypoxia-inducible factor 1a - loss of function - tumor and cyst development AD or spontaneous Clinical Features: Vascular tumors (hemangioblastoma or angiomatosis) commonly found in retina, cerebellum, brainstem and/or spine (cells have hyperchromatic nuclei), Bilateral RCC, Pheochromocytoma *** von HIPPEL-lindau syndrome = Hemangioblastoma, Increased risk of rcc, Pheochromocytoma, Pancreatic lesions, Eye Lesions Dx: plasma catecholamines and urinary catecholamine metabolites to screen for pheochromocytoma

Answer 516

AD or spontaneous mutation of tumor supressor gene - loss of function - unchecked cell growth - tumor development TSC1 gene on chr9 encodes HAMARTIN protein TSC2 gene on chr16 encodes TUBERIN protein Clinical Features: intellectual disbility, Infantile spasms, focal seizures, ADENOMA SEBACEUM (facial angiofibroma, benign tumor composed of blood vessels and fibrous connective tissue), ASH LEAF SPOTS (white macules on trunk and extremities), SHAGREEN PATCH (flesh colored papule in lumbosacral region with orange-peel appearance), GIANT CELL ASTROCYTOMA, CARDIAC RHABDOMYOMA (may cause mitral regurgitation and or CHF)

Answer 517

Types 1 and 2 both AR or spontaneous mutation of tumor supressor gene - loss of function - uninhibited cell growth - neurofibroma development Type 1: NF1 gene mutation 100% penetrance, chr17, encodes NEUROFIBROMIN protein, inhibition of cell growth and proliferation via inhibition of Ras signal transduction pathway Clinical Features: multiple neurofibromas typically under skin and in adolescence, CAFE AU LAIT SPOTS (brown flat macule or patch), LISCH NODULES (pigmented iris hamartomas), axillary and inguinal freckling, sezures, intellectual disability, Bone involvement (scoliosis, sphenoid wind dysplasia, short stature Type 2: NF2 gene mutation, chr 22, encodes MERLIN protein Clinical Features: age of onset 18-24 years, bilateral vestibular schwannomas (acoustic neuromas located internal acoustic meatus affecting the vestibulocochlear nerve causing tinnitus/hearing loss/vertigo), multiple cerebral and spinal tumors especially MENINGIOMAS and ependymomas

Answer 518

age onset 30-55 y/o highest in African american population GRANULOMA FORMATION- mature granulomes are composed of epithelioid cells and macrophages surrounded by lymphocytes and fibroblasts 1. macrophages activate Th1 cells 2. Th1 cells stimulate formation of epithelioid cells and multinucleated giant cells by releasing IFN-gamma 3. Epithelioid cells produce ACE and release cytokines that recruit more immune cells FIBROSIS CALCIUM DYSREGULATION - 1. activated pulmonary alveolar macrophages 2. increase 1-alpha hydroxylase expression and activity 3. increase calcitriol production - hyperviaminosis D - hyperphosphatemia/hypercalcemia/possible renal failure Clinical Features: often asymptomatic fever, malaise, lack of appetite, weight loss, lymphadenopathy Pulmonary - dyspnea cough chest pain Extrapulmonary - ARTHRITIS, ERYTHEMA NODOSUM, ANTERIOR UVEITIS lungs most commonly affected showing interstitial fibrosis Cutaneous shows ERYTHEMA NODOSUM AND LUPUS PERNIO (pathognomonic manifestation of sarcoidosis, extensive violaceous skin plaques on nose/cheeks/chin/and or ears ***features of sarcoidosis are GRUELING - Granulomas, aRthritis, Uveitis, Erythema nodosum, Lymphadenopathy, Interstitial fibrosis, Negative TB test, Gammaglobulinemia*** Dx: CXR shows bilateral hilar lymphadenopathy with or without pulmonary infiltrates (reticular and/or ground glass opacities) Bronchoalveolar lavage shows increased CD4:CD8 ratio Biopsy shows noncaseating granulomas with giant cells, ASTEROID BODIES< SCHAUMANN BODIES

Answer 519

Intrinsic - 8,9,11,12 12 - 12a helps 11 - 11a helps 9 - 9a 8 - 8a helps 9a Extrinsic - 7 7 - 7a helps 10 to 10a 7a and 9a help 10 - 10a which breaks down prothrombin II to Thrombin IIa which helps Fibrinogen I to Fibrin Ia Hemophilia A inhibits 8 Hemophilia B inhibits 9 Hemophilia C inhibits 11 Liver Cirrhosis stops factors 2,7,9,10 Vitamin K deficiency is similar to liver cirrhosis as the factors will not be carboxylated by gamma-glutamyl carboxylase Vitamin K is reduced via Epoxide reductase

Answer 520

Trastuzumab tx for breast cancer HER2/neu-positive side effects are cadiotoxicity which can manifest as left ventricular ejection raction and features of heart failure

Answer 521

Busulfan (severe myelosuppression, pulmonary fibross, hyperpigmentation) Cyclophosphamide (bladder toxicity, hemorrhagic cystitis, Bladder carcinoma, SIADH secretion) Mesna - tx to help with cyclophosphamide side effect of hemorrhagic cystitis Cisplatin, -platin (nephrotoxicity, neurotoxicity, peripheral neuropathies) Amifostine - tx to help with Cisplatin induced nephrotoxicity alkylates (damages) DNA used as chemotherapy and immunosuppressants Side effects: myelosuppression for all but some specifics listed above for each drug

Answer 522

Vincristine, Vinblastine binds beta-tubulin and inhibits polymerization of mitotic spindle arresting cell cycle in M-phase Side effects: neurtotoxicity and myelosuppression

Answer 523

-tecans (irinotecan, topotecan) inhibits topoisomerase I which prevents DNA unwinding and replication side effect: myelosuppression and diarrhea

Answer 524

-rubicin (Doxorubicin) multiple MOAs: 1. inhibition of topoisomerase II 2. intercalation with DNA preventing synthesis 3. DNA strand excision 4. generation of free radicals side effect: dilated cardiomyopathy ***can be limited with use of DEXRAZOXANE (iron chelating agent)

Answer 525

1. Superficial Inguinal nodes everything south of belly button drains to these nodes EXCEPT TESTIS AND LATERAL FOOT anal canal below pectinate line, scrotum, vulva 2. Para Aortic on sides of aorta testis, uterus, ovaries, kidneys 3. Celiac Most organs Liver, Spleen, stomach, Pancreas, upper duodenum 4. Popliteal dorsolateral foot, posterior calf 5. Deep inguinal glans penis and anterior urethra 6. External Iliac superior part of bladder 7. Inferior mesenteric most of large intestine (splenic flexure through upper rectum including superior and sigmoid rectum 8. Internal Iliac prostate, corpus cavernosum, bladder, lower rectum (to the anal canal above the dentate line 9. Mediastinal trachea and esophagus

Answer 526

-pril ***teratogenic and cause renal tubular dysplasia and oligohydramnios, intrauterine growth restriction, and lack of cranial ossification

Answer 527

1. 2. 3. 4. 5. 6.

Answer 528

Left Heart Failure "backing up" of blood leads to enlarged pulmonary vessels

Answer 529

Tricuspid stenosis signs of Right sided heart failure

Answer 530

Mitral valve closure loud could be mitral valve stenosis or mobile leaflets rheumatic heart disease is most common cause of itral stenosis in pts that have recently migrated from a developing country

Answer 531

Physiologic - A2 closes before P2 and is widening with inspiration due to increased blood flow in right ventricle causing pulmonic valve to stay open longer ***INCREASED CAPACITY OF THE PULMONARY CIRCULATION*** Wide split - A2 closes before P2 and is wider than usually due to left to right blood shunting Fixed split - A2 closes before P2 and is unaffected by inspiration, most likely due to ASD Paradoxical - P2 closes before A2, and inspiration closes the gap in the split or fixes the split, most likely due to severe aortic stenosis or HOCM (inspiration causes more blood into right ventricle delaying closure of P2 closing the split)

Answer 532

pulmonic stenosis typically encountered among pediatric patients with other congenital heart disesases (ex. ToF)

Answer 533

rapid ventricular filling due to INCREASED LEFT VENTRICULAR END-SYSTOLIC VOLUME, dilated ventricles, mitral regurgitation

Answer 534

Late diastolic sound decreased myocardial compliance important sign of heart failure with diastolic dysfunction or other conditions reducing myocardial compliance (active ischemia, hypertrophic cardiomyopathy)

Answer 535

2-10 weeks post MI autoimmune response against cardiac antigens can lead to immune complex-mediated damage (type III hypersensitivity) to pericardium Clinical features of acute pericarditis (fever, tachypnea, chest pain worsen with inspiration alleviated by leaning forward, dry cough, pericardial friction rub, increased troponin levels, diffuse ST elevations, pericardial effusion, and pleural effusions)

Answer 536

pleuritic chest pain, cough, low grade fever

Answer 537

Mitral valve vegetations and glomerulonephritis (increased creatinine, red cells casts, proteinuria) most likely Staphylococcus aureus - rapid valve destruction and formation of large valvular vegetations Renal issues from IE can be caused by: antigen-antibody complex depositions, septic embolization from infected valves (look for janeway lesions, roth spots, and subungual petechiae), drug induced acute interstitial nephritis (mostly penicillin allergy would have wbc and eosinophils in urine, if aminoglycosides used could be acute tubular necrosis which would have granular casts and increased urine sodium levels) ***ABOUT 50% OF AUTOPSIES AFTER IE SHOW INFECTED THROMBI IN RENAL ARTERIES*** Clinical features: Janeway lesions (nontender erythematous macules and papules on palms and soles), Roth spots (retinal hemorrhages that occur in IE from vascular occlusion and localize dimmune mediated vasculitis

Answer 538

cholesterol released from atherosclerotic plaque obstructs blood vessels causing livedo reticularis, gangrene and renal failure

Answer 539

EKG: pseudo-RBBB with ST elevation in V1-2 Clinical features: dizziness, palpitations, a-fib defective cardiac voltage-gated sodium channels

Answer 540

highly specific for arrhythmogenic right ventricular cardiomyopathy (ARVC) dizziness, palpitations, chest pain, sudden cardiac death caused by mutations in desmosomal proteins which lead to fatal arrythmias

Answer 541

prolonged QTc = x > 440ms in men and x > 460ms in women QTc = QT interval / sqaure root of RR interval in seconds congenital or acquired

Answer 542

moa: competitive inhibition of HMG-CoA reductase unable to convert HMG-CoA to mevalonate (rate limiting step of cholesterol synthesis) reduced intrahepatic cholesterol biosynthesis - upregulation of expression of LDL receptor gene - increased LDL recycling ***because it's a competitive inhibitor and binds to active site it will increase HMG-CoA reductase's apparent Km*** major decrease in LDL cholesterol increase in HDL cholesterol decrease in Triglyceride level Side effects: increase in LFTs, myalgia (INCREASE IN CREATININE KINASE)

Answer 543

increase in bradykinin because Angiotensin converting enzyme breaks down bradykinin adverse effects on ACE inhibitors are cough and angioedema, HYPERKALEMIA due to its effects on aldosterone production

Answer 544

nonselective beta blocker for B1, B2, and A1 - Labetalol, and Carvedilol B1 cardioselective blocker - Metoprolol, Atenolol, Esmolol, Betaxolol, Nebivolol nonselective B1, B2 blockers - Propranolol, Nadolol, Timolol **and Sotalol but it also blocks potassium channels***

Answer 545

Propylthiouracil and Methimazole inhibits thyroid production via inhibition of thyroid pyroxidase (BLOCKS IONIDATION AND COUPLING) ***Propylthiouracil also lowers peripheral conversion of T4 to T3 via inhibition of 5-deiodinase*** Methimazole is preferred for Grave's disease tx due to less likelihood of HEPATOTOXICITY Propylthiouracil is preferred for first trimester of pregnant women with Grave's

Answer 546

think acute cystitis and tx with trimethoprim-sulfamethxazole not Chlamydia because it's intracellular and bacteria wouldnt be seen (tx with doxycycline or azithromycin) not Trichomonas (metronidazole tx) or Candida (fluconazole tx) because of lack of vaginal discharge and odor

Answer 547

Fluconazole, Itraconazole inhibition of 14-alpha demethylase (fungal cytochrome p450) - decreased fungal synthesis of ergosterol from lanosterol - decreased levels of ergosterol - membrane instability - cellular death ***Ketoconazole inhibits 17alpha-hydroxylase/17,20-lyase used for prostate cancer*** Side effects are gynecomastia and it is a cytochrome p450 inhibitor so be careful

Answer 548

Metronidazole creates free radicals within the bacterial cell promoting DNA strand breaks CLinical use: protozoa (Entamoeba histolytica, GIARDIA, Trichomonas), Anaerobes (C. difficile, Bacteroides), Facultative anaerobes (Gardnerella vaginalis, Helicobacter pylori) Adverse effects: Headache, Metallic taste, GI side effects (NAUSEA, VOMITING, ABD PAIN) ***take the Metro To lonG BEaCH = Metronidazole treats Tichiomonas, Giardia/Gardnerella, Bacteroides, Entamoeba, Clostridium and H. pylori****

Answer 549

inhibition of bacterial folic acid synthesis inhibit DIHYDROPTEROATE SYNTHASE ***TMP = Treats Marrow Poorly*** ROCk, PAper, SCiSSors: most important sulfa drugs are fuROsemide, (hydro)Chlorthalidone, Probenecid, Acetazolamide, Sulfamethoxazole/Sulfadiazine, Celecoxib, Sulfasalazine, and Sulfonylureas)

Answer 550

nitrates don't mix well with ED meds accumulation of cGMP nitrates are converted to nitric oxide and nitric oxide increases cGMP as a 2nd messenger which results in vascular smooth muscle relaxation

Answer 551

anticonvulsant and mood stabilizer blocks voltage gated sodium channels and enhances availability of GABA ***Lamotrigine and Carbemazapine are also used similarly but Carbemazapine is a CYP450 inducer and Lamotrigine can cause steven-johnson syndrome** Adverse Effects: severally hepatotoxic

Answer 552

inhibit Nf-kB decrease transcription of IL-2 and other cytokines

Answer 553

gram (-) coccobacilli strictly aerobic cultured in Bordet-Gengou agar Virulence factors: Capsule and Pertussis toxin Tx: Macrolides (azithromycin, erythromycin) to stop protein production via inhibition of 50s ribosomal subunit (stopping translocation)

Answer 554

Calcineurin inhibitor used for immunosuppressant therapy after transplantation Side effects: AKI, HYPERTENSION, tremor, headache, Hyperglycemia, Hyperlipidemia, alopecia

Answer 555

Mydriasis - Alpha1 receptor - radial muscle contraction Miosis - M3 receptor - sphincter muscle contraction

Answer 556

deficient or dysfunctional C1 esterase inhibitor leads to increased levels of bradykinin and C1 complement pathway products ***AVOID ACE INHIBITORS AS THEY WILL INCREASE THE AMOUNT OF BRADYKININ PRESENT AND PREVENT IT'S BREAKDOWN***

Answer 557

Propranolol can mask hypoglycemic signs and symptoms

Answer 558

inhibits mast cell degranulation

Answer 559

Alpha 2 agonists MOA: activate alpha2 receptors in presynaptic sympathetic neurons in the CNS - increase presynaptic negative feedback - decrease NE release - central vasodilation decreases sympathetic outflow from the CNS Uses: ADHD, hypertensive urgency, Tourette Syndrome Adverse effects: orthostatic hypotension, HYPERTENSIVE CRISIS AFTER ABRUPT DISCONTINUATION, miosis, bradycardia

Answer 560

DHP: Nifedipine and Amlodipine Non-DHP: Diltiazem and Verapamil

Answer 561

gradual insidious onset of bilateral hearing loss

Answer 562

Dopamine precursor: L-Dopa, broken down to Dopamine via DOPA decarboxylase, can cross BBB unlike dopamine, used for bradykinetic sx Decarboxylase inhibitors: Carbidopa, used with L-dopa to decrease the peripheral conversion of L-Dopa to dopamine - increase bioavailability of L-dopa and decreases side effects Dopamine agonists: Non-ERGOT - Ropinirole, Pramipexole, Apomorphine, Rotigotine ERGOT - Bromocriptine, COMT inhibitors (Catechol-O-methyltransferase): Entacapone and Tolcapone, decrease peripheral conversion of L-dopa **Tolcapone - increases central dopamine effect decreasing the need for a ton of L-dopa*** ***monotherapy ineffective and needs to be treated with L-dopa*** NMDA antagonists: Amantidine, acts antagonistically at the glutamate NMDA receptors, increase dopamine release and decrease dopamine reuptake Adverse effect: LIVEDO RETICULARIS!! MAO-B inhibitors: Rasagiline Salfanamide and Selegiline, selective inhibition of MOA-B, DECREASE OF BREAKDOWN OF DOPAMINE in brain, alternative to L-dopa tx for short term mild sx parkinsons Anticholinergic drugs: Benztropine Biperiden and Trihexyphenidyl, inhibition of excitatory cholinergic nerurons - decrease in acetylcholine ***benefits with tremors but doesn't help with bradykinesia

Answer 563

alpha glucosidase inhibitor (brush border enzyme in intestine responsible for glucose and carb breakdown after eating) decreases post prandial elevated glucose levels Side effects: flatulence, diarrhea, elevated liver enzymes ***DON'T USE WITH severe RENAL DISEASE PTs***

Answer 564

1st Gen: Chlorpropamide and TOLBUTAMIDE 2nd Gen: Glyburide, Glipizide, Glimepiride MOA: blocks ATP sensitive potassium channels of pancreatic Beta cells - depolarization of cell membrane - calcium influx - insulin secretion Side effects: HYPOGLYCEMIA, and 1st gen has disulfuram like reaction with alcohol CONTRAINDICATIONS INCLUDE BETA BLOCKERS AS THEY WILL MASK SOME HYPOGLYCEMIC SX Meglitinides: Repaglinide Nateglinide similar to sulfonylureas

Answer 565

Metformin moa: enhances effect of insulin inhibits mGPD (mitochondrial glycerophosphate dehydrogenase) - DECREASED HEPATIC GLUCONEOGENESIS and intestinal glucose absorption increases peripheral insulin sensitivity - increase peripheral glucose uptake and glycolysis METFORMIN ASSOCIATED LACTIC ACIdosis

Answer 566

-navir Lopinavir, Indinavir, Nelfinavir, Ritonavir inhibition of Viral HIV-1 protease - inability to cleave viral polyproteins into functional units - generation of impaired viral proteins - production of immature virions adverse effects: GI upset, NEPHROLITHIASIS, CRYSTAL INDUCED NEPHROPATHY, HEMATURIA, FAT ACCUMMULATION, HYPERGLYCEMIA, LIPODYSTROPHY ***thrombocytopenia with indinavir*** ***Ritonavir boosts effects***

Answer 567

Mesocortical - decreased activity = "negative" sx: flat affect, limited speech Mesolimbic - increased activity = "positive" sx: delusions, hallucinations Nigrostriatal - Decreased activity = extrapyramidal sx: dystonia, akathisia, tardive dyskinesia, parkinsonism tuberoinfundibular - Decreased activity = increased prolactin, sexual dysfunction, galactorrhea

Answer 568

inability to remain physically still

Answer 569

face, body, or both make sudden movements you can't control most commonly caused by long term use of dopamine antagonists

Answer 570

Mild to moderate: controlled ileum released BUDESONIDE corticosteroids Moderate to Severe: Oral systemic corticosteroids and Immunomodulator (azathioprine or ANTI-TNF-ANTIBODIES!!!!) or no corticosteroids and combine other two Severe: IV corticosteroids and Inflixumab

Answer 571

Chimeric: Infliximab Humanic: Adalimumab, Golimumab, Certolizumab Etanercept: DECOY RECEPTOR FOR TNF ALPHA Indication: chronic inflammatory diseases such as rheumatoid arthritis, ankylosing spondylitis, psoriasis, chrohn disease Side effects: TB REACTIVATION, drug induced Lupus

Answer 572

Sulonamides displace unconjugated bilirubin from albumin causing hyperbilirubinemia and sometimes Kernicterus (brain damage from high bilirubin), DON'T TAKE DURING THIRD TRIMESTER sometimes mother has leftover from prior UTI and uses it again during pregnancy

Answer 573

Purines - hypoxanthine - Xanthine (via xanthine oxidase) - Plasma uric acid (via xanthine oxidase) - filtered into kidney Chronic gout drugs 1. Allopurinol - competitive inhibition of Xanthine oxidase - decreased conversion of hypoxanthine and xanthine to urate ***increase concentrations of xanthine oxidase active metabolites, azathioprine, and 6-MP*** 2. Probenecid - inhibits reabsorption of uric acid in proximal convoluted tubule ***can precipitate uric acid calculi or lead to sulfa allergy*** ***also inhibits organic anion transporter in the kidneys reducing the excretion of several drugs including penicillins*** 3. Pegloticase 4. Febuxostat Acute 1. NSAIDs - use salicylates with caution, may decrease uric acid excretion 2. Glucocorticoids - oral, intra-articular, or parenteral 3. Colchicine - binds and stabilizes tubulin to inhibit microtubule polymerization, impairing neutrophil chemotaxis and degranulation Adverse effects: GI, meuromyopathic adverse effects, myelosuppression, nephrotoxicity

Answer 574

inhibits gastric and pancreatic lipase - decrease breakdown and absorption of dietary fats taken with fat-containing meals clinical use: weight loss Adverse effects: abd pain, flatulence, bowel urgency/frequent bowel movements, steatorrhea, decreased absorption of fat-soluble vitamins

Answer 575

Cholestyramine, colesevelam, colestipol MOA: disrupt eterohepatic bile acid circulation - compensatory increase conversion of cholesterol to bile - decrease intrahepatic cholesterol - increase LDL receptor recycling Decrease in LDL, sligh increase in HDL and triglycerides Adverse effects: GI upset, decrease absorption of other drugs and fat-soluble vitamins

Answer 576

A - retinol, retinal, retinaldehyde, retinoic acid D - Calciferol E - Tocopherol K - phylloquinone, menaquinone

Answer 577

prevents cholesterol absorption at small intestine brush border decrease in LDL, slight increase/no effect on HDL, slight decrease/no effect on triglycerides Adverse effects: rare increase in LFTs, diarrhea

Answer 578

Cimetidine, FAMOTIDINE, nizatidine MOA: reversible block of histamine H2 receptors - decrease hydrogen secretion by parietal cells Clinical use: peptic ulcer, gastritis, mild esophageal reflux Adverse effects: CIMETIDINE is a potent inhibitor of cytochrome p450 ***take H2 blockers before you -DINE***

Answer 579

Gastric Acid Parietal cells, decrease stomach pH, increase with histamine/vagal stimulation (ACh) and gastrin Intrinsic factor Parietal cells, vitamin B12-binding protein (required for B12 uptake in terminal ileum), Gastrin G cells, promotes secretion of gastric acid Cholecystokinin I cells, causes increased pancreatic secretion/gallbladder contraction and decreased gastric emptying Mucus and Bicarb Mucous cells, protect epithelium from acidic environment Pepsinogens Chief cells, aid in protein digestion

Answer 580

DOACs - Direct oral anticoagulant binds to clotting factors Dabigatran, Rivaroxaban, Apixaban, Edoxaban Avoid iN PREGNANCY Vitamin K antagonists Warfarin AVOID IN PREGNANCY Heparin unfractionated or LMWH (nnoxaparin, dalteparin USE WITH PREGNANCY

Answer 581

antiemetic D2 antagonist, serotonin receptor antagonist Central antiemetic effect in area postrema Peripheral antiemetic effect in GI tract cause increase in gastric contractions, small bowel motility, and resting tone of lower esopageal sphincter Adverse effects: OD CAN LEAD TO EXTRAPYRAMIDAL EFFECTS

Answer 582

medication used for parkinson's and antiviral agent historically used to treat influenza MOA: uncertain, thought to promote dopamine release while inhibiting reuptake thus increasing overall availability Also antagonizes the NMDA (N-methyl-D-aspartate) receptor Adverse effects: livedo reticularis (mottled lacelike purplish discoloration of the skin)

Answer 583

Lactulose acidifies colonic contents and reduces the absorption of ammonia from bowel

Answer 584

Zileuton blocks leukotrienes production Zafirlukast blocks leukotrienes receptor

Answer 585

constipation caused by opiods tx promotes peristalsis through enteric nerve stimulation

Answer 586

draws water into lumen via osmosis

Answer 587

transferase enzymes that cause inactivation of enzymatic modification

Answer 588

Methylation of 23s rRNA-binding site prevents drug binding macrolides, chloramphenicol, clindamycin, streptogramins

Answer 589

1A - Quinidine/Procainamide/Disopyramide Increase action potential duration and effective refractory period 1B- Lidocaine/Phenytoin/Mexiletine Decrease action potential duration 1C- Flecainide/Propafenone significantly prolongs ERP in AV node and accessory bypass tracts

Answer 590

Fenofibrate, Gemfibrozil decrease LDL, incrase HDL, greatly decrease triglycerides MOA: activate PPAR-alpha - upregulate LPL - increase triglyceride clearance Adverse effects: myopathy (increased with statins), cholesterol gallstones (via inhibition of cholesterol 7alpha-hydroxylase)

Answer 591

Abacavir, Didanosine, Emtricitabine, Lamivudine, Stavudine, Tenofovir, Zidovudine act as nucleoside anaolgs - competitive blockage of nucleoside binding to reverse transcriptase - inhibition of formation of 3 and 5 prime phosphodiester linkages - termination of the DNA chain - inhibition of RNA to DNA reverse transcription Activation requires intracellular phosphorylation thus it is reliant on kinase availability and activity Adverse effects: Mitochondrial toxicity (disruption of mitochondrial function leading to myopathy, peripheral neuuropathy, hepatic steatosis, lactic acidosis), HIV associated lipodystrophy (loss in face, buttocks, extremities but a gain within liver, muscles, abd, breasts, neck, upper back) ***Tenofovir - nephrotoxicity, ATN*** ***Abacavir - hypersensitivity in pt with HLA-B*5701 pts*** ***Zidovudine - bone marrow suppression and neutropenia, DNA depleting mitochondrial myopathy with red "ragged" fiber appearance***

Answer 592

Delavirdine, Efavirenz, Nevirapine noncompetitive inhibitors of viral reverse transcriptase at different location than NRTIs DO NOT REQUIRE INTRACELLULAR PHOSPHORYLATION Adverse Effects: hypersensitivity rash, and steven johnson syndrome ***Nevirapine - hepatoxicity*** ***Efavirenz - CNS toxicity and vivid disturbing dreams***

Answer 593

Linoleic acid (essential fatty acid found in cell membrane) broken down to Arachidonic acid and goes one of two ways 5-Lipoxygenase goes towards leukotrienes Cox 1 and Cox 2 go to prostaglandin H2 which goes to either prostaglandins/Prostacyclin/or thromboxane (Thromboxane synthase) Leukotrienes - promote chemotaxis and inflammation, vasoconstriction Prostaglandins - vasodilation, increases uterine tone and softens cervix, raises body temperature, -prost drugs Thromboxane - vasoconstriction, promotes platelet aggregation Prostacyclin - inhibits platelet activation and is a potent vasodilator

Answer 594

activates Gi protein - inhibition of adeylate cyclase - decrease cAMP - deactivation of L-type calcium channels and activation of Potassium channels - Decrease calcium and increase potassium efflux - hyperpolarization - Transient AV node block (roughly 15 seconds) - acute termination of SVT Adverse effects: IMPEDING DOOM!!!, FLUSHING, BRONCHOSPASMS, HYPOTENSION, CHEST PAIN ***theophylline and caffeine lessen the effects due to being adenosine receptor antagonists***

Answer 595

Myocardial Action Potential (myocardium, bundle of HIS, Purkinje Fibers) Phase 0 Upstroke = action potential from pacemaker cell or adjacent cardiomyocyte causes transmembrane potential to rise above -90mV Depolarization = fast voltage gated sodium channels open at -65mV - rapid sodium influx into the cell - TMP rises further until slightly above 0mV ***most effected by Class 1 antiarrhythmics*** Phase 1 (early repolarization) Inactivation of voltage gated sodium channels Transient potassium channels start to open (outward flow of potassium returns TMP to 0mV) Phase 2 (plateau phase) potassium efflux through delayed rectifer potassium channels and Calcium influx through voltage gated L-type calcium channels which triggers calcium release from the SR - contraction of myocyte ***most effected by Class 4 antiarrhythmics*** Phase 3 (rapid repolarization) inactivation of calcium channels Potassium efflux through delayed recitfier potassium channels continues: persistent potassium outflow of potassium exceeds calcium inflow and brings TMP back to -90mV ***most effected by Class 3 antiarrhythmics*** Phase 4 (resting phase) resting membrane potential stable at -90mV due to constant outward flow of potassium through inward rectifier channels sodium and calcium channels closed ***most effected by Class 2 antiarrhythmics***

Answer 596

Pacemaker cells action potential (SA node and AV node) Phase 0 Upstroke - at -40mV the L-type calcium channels open - TMP increases to +40mV no rapid depolarization! because fast voltage gated sodiu channels are inactivated in pacemaker cells - results in slower conduction velocity between atria and ventricles Phase 1- ABSENT Phase 2 - ABSENT Phase 3 closure of voltage gated calcium channels and opening of delayed rectifier potassium channels - potassium efflux (TMP returns to -60mV) Phase 4 no resting phase sympathetic stimulation - INCREASE CATIONS CHANNEL CONDUCTION - increase slope of phase 4 - increase heart rate FUNNY CHANNELS!!!!

Answer 597

Mifepristone - competitive inhibitor of progestins at progesterone receptors ***Ulipristal is similar but used for emergency contraception*** Misoprostol - PGE1 analog which increases production and secretion of gastric mucous barrier and decreases acid production ***ALSO ripens cervix and increased uterine tone so it's used in pregnancy termination*** Progesterone is maintained in pregnancy but use of Mifepristone interupts progesterone effects and Misoprostol then expels any uterine contents

Answer 598

differentiate with ehlers danlos and marfans deficiency of enzyme CYSTATHIONE SYNTHASE (homocysteine to cystathione), METHIONINE SYNTHASE (homocysteine to methionine), or MTHFR (METHYLENETETRAHYDROFOLATE REDUCTASE) **all forms can accumulate homocysteine** AR Clinical Features: growth faltering, developmental delays, Marfanoid features, DOWNWARD AND INWARD SUBLUXATION OF EYES, progressive intellectual disability, osteoporosis, cardiovascular complications DX: elevated homocysteine in urine and serum urine sodium nitroprusside test (urine changes color to an intense red from excess homocysteine Methionine levels depends on enzyme deficiency

Answer 599

accumulation of cysteine in the urine and bladder due to disruption of amino acid transport in PCT and intestine AR amino acids COAL (cysteine, ornithine, arginine, and lysine) impaired reabsorption of COAL frequently forms hexagonal cysteine stones

Answer 600

inherited genetic disorder characterized by a mutation in the HGD gene and subsequent homogentisic acid dioxygenase deficiency and impaired tyrosine catabolism AR lack of functional homogentisic acid dioxygenase accumulation of homogetisate Clinical Features: urine turns black when standing for periods of time, arthritis, nephrolithiasis

Answer 601

impaired breakdown of branch chained amino acids AR absent or deficient branched-chain alpha-ketoacid dehydrogenase leads to impaired degradation of BCAA (leucine, Valine, isoleucine) - accumulation of alpha-ketoacid formation CLinical Features: vomiting, lethargy, poorfeeding, SWEET SMELLING URINE, INTELLECTUAL DISABILITY Dx: elevated levels of alpha-ketoacids in serum (especially leucine) Tx: supplementation with thiamine

Answer 602

AR accumulation of phenylalanine MOST COMMON: due to deficiency in liver enzyme PAH (phenylalanine hydroxylase) - impaired conversion of phenylalanine to tyrosine and tyrosine becomes nutrtionally essential Least Common: tetrahyrdobiopterin deficiency (malignant PKU) which is a cofactor for phenylalanine metabolsim, due to deficiency with dihydropteridine reductase (normally Excess phenylalanine is transformed to phenylketone metabolites that are excreted in urine CLinical features: MUSTY ODOR, growth restriction, seizures Dx: phenylketone metabolites in urine, newborn screening for increased phenylalanine in serum 2-3 days post birth, hyperphenylalaninemia Tx: low phenylalanine diet and high tyrosine diet

Answer 603

defect in renal and intestinal transport of neutral amino acids (tryptophan) AR impaired sodium dependent amino acid transporter on enterocytes and Proximal renal tubular cells - decreased renal and intestinal absorption of tryptophan - inability to synthesis vitamin B3 (niacin) CLinical features: niacin deficiency sx such as PELLAGRA (dermatitis, glossitis, diarrhea, dementia) Dx: increased neutral amino acids in urine Tx: high protein diet and niacin supplementation

Answer 604

Bisphosphanates - see above card Nonbisphosphanates Denosumab - monoclonal antibody against the Receptor Activator of Nuclear Factor -kB ligand, targets RANKL by mimicking osteoprotegrin - interference with osteoclast maturation - decrease osteoclast activity PTH and PTH related peptide analogs (teriparatide) - recombinant human PTH that increases osteoblastic activity - increased bone growth Raloxifene - can be used at pt with increased risk of breast cancer, SERM (selective estrogen receptor modulator), increased risk of venothromboembolism Calcitonin - Postmenopausal osteoporosis, inhibits bone resorption

Answer 605

anti fungal converted to 5-fluorouracil by fungal cytosine deaminase thereby inhibiting DNA and RNA synthase adverse effects: bone marrow suppression

Answer 606

ACE and ARB stenosis leads to less perfusion of kidney - response is elevated renin - angiotensinogen - aldosterone to help reprofuse kidney stoping the ACE and ARB would stop kidney trying to get itself more bloodflow

Answer 607

QT PROLONGATION

Answer 608

binds to keratin precursor cells accumulation of keratin rich tissues (hair nails) entry into fungal cells interference with microtubule formation specifically the alpha/beta tubulin dimers and disrupts the spindle apparatus disruption of fungal mitosis Clinical use: tinea pedis (athlete's foot) tinea corporis (ringworm) Adverse Effects: hepatotoxicity, teratogenicity, DISULFURAM LIKE REACTION WHEN TAKEN WITH ETOH (flushing, tachycardia, hypotension)

Answer 609

binds 50s subunit - blockage of peptidyltransferase - inhibition of bacterial protein synthesis Uses: meningitis caused by H. influenzae/N. meningitidis/S. pneumoniae Ricketssia infections (rocky mountain spotted fever caused by Rickettsia rickettsii) Adverse Effects: APLASTIC ANEMIA, GREY BABY SYNDROME Contraindications: pregnancy and infancy

Answer 610

Renal dysplasia - ACE inhibitors Neural Tube Defects - Valproic Acid, CARBAMAZEPINE, methotrexate, sulfa-trimeth Congenital Goiter - radioactive iodine, potassium iodide, propylthiouracil Cleft Palate - antiepileptic drugs (carbamazepine) Ebstein anomaly - Lithium Ototoxicity - aminoglycosides Cartilage damage - Fluoroquinolones Inhibition of bone growth - tetracyclines (discoloration of teeth) Basal Ganglia damage - sulfamethoxazole (binds albumin can displace unconjugated bilirubin, deposition of bilirubin into basal ganglia) Limb Malformation - Thaialomide (used for nause in pregnancy awhile ago) umbilical hernia and scalp lesion - methimazole

Answer 611

-nitrate or -nitro in name exogenous supply of NO - stimulates guanlyl cyclase to make cGMP - activates protein kinase G - increases myosin light chain phosphatase activity - decreased phosphorylated myosin - smooth muscle relaxation Peripheral vasodilation, decreases preload and improves myocardial perfusion decreased afterload - reduces contraction effort - decreases myocardial oxygen demand greater vasodilatory effect on veins compared to arteries **EXCEPT SODIUM NITROPRUSSIDE** Coronary dilation Anginal pain relief Adverse effects: HYPOTENSION, HEADACHE, CYANIDE TOXICITY (inhibition of mitochondrial cytochrome C oxidase in electron transport chain)

Answer 612

Warfarin - FFP for immediate and Vitamin K for later Heparin - Protamine Sulfate Factor Xa inhibitors (rivaroxaban, apixaban) - Andexanet alfa Fibrinolytics - Aminocaproic acid

Answer 613

Ketoconazole - anti fungal agent Finasteride - 5-alpha reductase inhibitor Hormone replacement therapy (estrogen, progesterone) Spironolactone (potassium sparing drug) Anti psychotics (haloperidol and risperidone) H2 receptor antagonists (cimetidine and rantidine)

Answer 614

DIRECT AGONISTS: BETHANECHOL, Carbachol, Cevemeline, PILOCARPINE, Methacholine MOA: bind to muscarinic/nicontinic AChR and act as direct agonists INDIRECT AGONISTS: Pyridostigmine, Donepezil, Rivastigmine, Galantamine MOA: inhibit AChE decreasing breakdown of ACh and increasing ACh levels Tx: Myasthenia Gravis, Atropine OD M2 - heart - decreased HR and atrial contractility along with slowing down AV conduction M3 (Gq pathway) - Smooth muscle - increase GI peristalsis, increase detrusor muscle tone increasing bladder contraction, increase bronchial secretions and bronchoconstriction, MIOSIS, vasodilation Exocrine glands - increase sweat and gastric acid secretion Nicotinic - skeletal muscle - increase muscle contraction and tone

Answer 615

stop heparin and start a direct thrombin inhibitor

Answer 616

reversal agent for benzodiazepine intoxication competitive antagonist of GABA receptors

Answer 617

neuroendocrine tumors of the GI tract that secrete Gastrin Hypergastrinemia - stimulates parietal cells - gastric acid hypersecretion which leads to: Peptic Ulcer Disease Inactivation of Pancreatic enzymes - diarrhea/steatorrhea - malabsoption Clinical Features: abd pain, diarrhea, steatorrhea, weight loss **CAN BE CAUSED BY MEN1 ISSUES SO LOOK FOR THOSE FEATURES AS Well** Dx: multiple ulcers and thick gastric folds

Answer 618

Phases of Ovarian Cycle: Follicular - FSH and LH are steady then a sudden spike in LH at Ovulation Luteal - LH spike decreases and both are back to normal levels Phases of Uterine Cycle: Menses - shedding of uterine wall, Estrogen and Progesterone low Proliferative - Estrogen slowly rises and peaks with LH at Ovulation, Progesterone starts to increase right before Ovulation Secretory - Progesterone continues to rise, Estrogen gets halfway between peak and normal levels, Corpus Luteum gives extra bump to estrogen Menses again once Progesterone and Estrogen go back to normal levels ***Contraceptives have estrogen and progesterone - give negative feedback to LH and FSH - without FSH feedback the Estrogen will not increase to the required level for midcycle LH surge thus preventing ovulation***

Answer 619

BCR-ABL and c-KIT inhibitors Imatinib, Dasatinib, Nilotinib inhibition of autophosphorylation and activation of multiple proteins by TYROSINE KINASES Tx: CML, BCR-ABL positive ALL, Kit (CD117) positive GI stromal tumors EGFR tyrosine kinase inhibitors Erlotinab, Gefitinib, Afatinib inhibition of HER1/EGFR tyrosine kinase Tx: NSCLC Janus Kinase inhibitors Ruxolitinib inhibition of JAK1 and JAK2 kinase - reduced activation of hematopoetic precursors Tx: metastatic breast cancer

Answer 620

Seminoma/Ovarian Dysgerminoma - malignant, painless, homogenous testicular enlargement, MOST COMMON, "fired egg" appearance of cells on histology, INCREASED PLAP/normal to increased beta-hCG Embryonal Carcinoma - malignant, painful, hemorrhagic mass with necrosis, Increased beta-hCG and normal AFP when pure but has increased AFP when mixed (which is most of the time) Teratoma - Mature teratoma may be malignant in adult males but is benign in women and children, normal PLAP/AFP/bHCG (could have elevated AFP) Yolk Sac Tumor/Endodermal sinus tumor - malignant, aggressive, yellow mucinous tumor, SCHILLER-DUVAL BODIES RESEMBLE GLOMERULI, INCREASED AFP is highly characteristic, MOST COMMON TUMOR IN CHILDREN UNDER 3y/o Choriocarcinoma - malignant, disordered syncytiotrophoblastic and cytotrophoblastic elements, hematogenous metastases to lungs and brain, INCREASED HCG, may produce gynecomastia/sx of hyperthyroidism (beta subunit to hCG is similar to TSH)

Answer 621

Leydig Cell Tumor - mostly benign, golden brown color, contains REINKE CRYSTALS (eosinophilic cytoplasmic inclusions), produces androgens and estrogens - precosious puberty/gynecomastia Sertoli Cell Tumor/Androblastoma - arises from sex cord stroma, mostly benign Primary Testicular Lymphoma - malignant, aggressive, typically diffuse large B cell lymphoma, often bilateral, most common testicular cancer in males great than 60y/o

Answer 622

less insulin secreted during hypoglycemia the ATP gated potassium channels stay open and the membrane fails to depolarize, reducing calcium entry, decreasing activation of voltage gated calcium channels and decreasing insulin secretion by islet cells

Answer 623

middle meningeal artery between skull and dura mater lucid interval, neurologic deterioration, CRANIAL NERVE III PALSY CT: biconvex lesion, does not cross suture lines

Answer 624

Coritcal Bridging veins Between dura and arachnoid mater Gradual onset (days to months) CT: crescent shaped lesion, crosses suture lines

Answer 625

aneurism usually at branch points of anterior communicating artery between arachnoid and pia mater rapid time course, described by patients as "worst headache of my life" CT: blood within the ventricles

Answer 626

most common cause is hypertension Charcot-Bouchard microaneurysm most often occur in basal putamen/globus pallidus of basal ganglia

Answer 627

all have same alpha subunit beta subunit of beta-hCG and LH are similar LH functions to control the menstrual cycle and cause ovulation, specifically promoting follicle rupture beta-hCG functions to maintain corpus luteum until placenta is formed to take over for corpus luteum

Answer 628

E6 and E7 productes produces by HPV all the cell to cycle out of control, despite damage to DNA

Answer 629

lowers blood pressure by blocking Na/Cl cotransporter in DCT Acute effects are Sodium Diuresis - increased fluid loss to urine - loss of ECF and plasma volume = diminished venous return/lower cardiac output/decreased blood pressure After 4-6 weeks the plasma volume will return to it's pre medication values Long run effects of Thiazides are VASODILATION but cause is not fully understood

Answer 630

episodes of headaches lasting 15 minutes to 3 hours usually unilateral periorbital/temporal/orbital associated with tearing, conjunctival injection, rhinorrhea, miosis, and ptosis associated with 2ndary activation of the trigeminal autonomic reflex probably via trigeminal hypothalamic pathway Tx: Acute - Sumatriptan, 100% Oxygen Prophylaxis - Verapamil

Answer 631

bilateral greater than 30 minutes and usually 4-6 hours steady "bandlike" pain, no more than one of photophobia or phonophobia no nausea or vomiting most common primary headache and more common in females Tx: Acute - NSAIDs, analgesics, acetaminophen Prophylaxis - TCAs, behavioral therapy

Answer 632

unilateral lasting 4-72 hours pulsating pain with nausea, photophobia, and/or phonophobia, possible "aura", due to irritation of CN V, meninges, or blood vessels more common in females ***POUND - Pulsatile, One-day duration, Unilateral, Nausea, Disabiling*** Tx: Acute - NSAIDs, triptans, dihydroergotamine, antiemetics Prophylaxis - lifestyle changes, beta blockers, amitriptyline, topiramate, valproate, botulinum toxin, anti-CGRP monoclonal antibodies

Answer 633

PROLACTINOMA YOU FUCKING IDIOT proliferation of lactotrophs in anterior pituitary gland headache, bitermporal hemanopsia, galactorrhea, impotence or decreased libido

Answer 634

protease located in stomach pepsinogen activated to pepsin via acid in stomach preferably cleaves bonds involving phenylalanine, tyrosine, and leucine

Answer 635

aka enteropeptidase allows activation of several digestion enzymes for degrading proteins and complex lipids on plasma membrane of enterocytes in duodenum that activates trypsinogen to trypsin active trypsin then activates pancreatic enzymes like lipase, chymotrypsin, and carboxypeptidase which are required for breaking down proteins and complex lipids

Answer 636

pancreatic secretion to duodenum activated to chymotrypsin by trypsin cleaves bonds of the C-terminal of basic amino acids lysine, and arginine

Answer 637

Ethosuximide blocks T-type calcium channels

Answer 638

enzyme involved in digestion of carbohydrates in small intestine produced by salivary glands and pancreas elevated in acute pancreatitis

Answer 639

ACE or ARBs reduce angiotensinogen II production and decreasing intraglomerular pressure by preferentially dilating the efferent arteriole

Answer 640

inhibition of DNA polymerase incorporation of pyrimidine analog into DNA - decreased DNA synthesis tx: leukemias and lymphomas Adverse effects: Myelosuppression, Megaloblastic anemia

Answer 641

Capecitabine - prodrug of 5-FU activation of 5-FU to 5-FdUMP complex formation with thymidylate synthase and folic acid - inhibition of thymidylate synthase - decreased dTMP production - decreased DNA production - decreased DNA synthesis incorporation of pyrimidine analog into DNA and RNA - decreased DNA and RNA synthesis ***Leucovorin enhances the antineoplastic efficacy of 5-FU*** Adverse: myelosuppression, Palmar-Plantar erythrodysestesia (hand foot syndrome)

Answer 642

induces formation of free radicals - breakage of DNA strand - cell cycle arrest at G2 and M phase uses: testicular cancer and hodgkin lymphoma Adverse Effects: Lung injury (pulmonary fibrosis, Bronchiolitis Obliterans, Acute Pneumonitis, ARDs), hyperpigmentation of the skin, minimal myelosuppression

Answer 643

ribonucleotide reducatase inhibitor - decreased DNA replication in S phase - massive cytoreduction uses: CML, polycythemia vera, essential thrombocytopenia increases production of HbF used for sickle cell crisis and prophylaxis Adverse: myelosuppression, megaloblastic anemia

Answer 644

abd fullness, ovarian mass, ascites, pleural effusion (hydrothorax) associated wth benign ovarian fibroma ***CLASSIC HISTOLOGIC FINDING OF OVARIAN FIBROMA IS COLLAGEN-RICH, MONOMORPHIC SPINDLE CELLS***

Answer 645

Bacterial - increased opening pressure, increased polymorphonuclear neutrophils, increased protein, decreased glucose Fungal/TB - increased opening pressure, increased lymphocytes, increased protein, decreased glucose Viral - increased or normal opening pressure, increased lymphocytes, increased or normal protein, normal glucose

Answer 646

third generation cephalosporin usually ceftriaxone with vancomycin inhibits bacterial cell wall synthesis ***add ampicillin if Listeria is suspected***

Answer 647

Group B Streptococcus, E. coli, Listeria **incidence of group B strep in neonates has decreased due to screening and antibiotic prophylaxis in pregnancy**

Answer 648

S. pneumoniae, N. meningitidis, H influenzae type b, Group B strep, Enteroviruses **incidence of H influenzae has decreased due to conjugate vaccinations (usually seen in unimmunized children**

Answer 649

S pneumoniae, N meningitidis, Enteroviruses, HSV

Answer 650

S penumoniae, N meningitidis, H influenzae type b, Group B Streptococcus, Listeria

Answer 651

PEA Phenytoin Ethanol Aspirin - high dose

Answer 652

Rheumatic heart disease resulting from antibody corss-reactivity between bacterial antigen and the mitral valve (molecular mimicry) developing country put her at risk of rheumatic fever as a child

Answer 653

Intracellular receptors - Progesterone, estrogen, tetosterone, cortisol, aldosterone, t3/t4, vitamin D cAMP - ACTH, FSH, LH, TSH, ADH, PTH, GLUCAGON!!!, histamine cGMP - BNP, ANP, EDRF, NO IP3 - oxytocin, TRH, GnRH Receptor Tyrosine Kinase - EGF, VEGF, FGF, RET, Insulin Nonreceptor tyrosine kinase - erythropoietin, thrombopoietin, G-CSF, prolactin, cytokines

Answer 654

promotes gallbladder contraction (increased pain in pt with gallstones)

Answer 655

results from abrupt arrival at high altitude with resultant hypoxemia low partial pressure of oxygen at higher altitudes to adapt to high altitude RBCs increase production of 2,3 bisphosphoglycerate which shifts the oxygen hemoglobin curve to the right and releases more oxygen into the tissues

Answer 656

brown pigment deposited in tissues from normal again process composed of perioxidized and polymerized membrane lipids formed from autophosphagocytosed organelles combination of atrophic heart and lipofuscin is referred to as brown atrophy

Answer 657

DNA point mutation substitutes guanine for adenine - GLutamine made instead of arginine near polypeptide cleavage site of factor V result is that factor V avoids cleavage by APC and stays active - activates prothrombin - increase in thrombotic events ***cerebral vein thrombosis and recurrent pregnancy loss***

Answer 658

rare form of autoimmune thyroiditis histology: inflammatory infiltration and fibrosclerotic changes to thyroid tissue painless fixed hard (stone like) goiter that may COMPRESS SURROUNDING TISSUES

Answer 659

cofactor used to begin extrinsic pathway of coagulation cascade activated through endothelial injury activates FVII to FVIIa and makes FVIIa complex which activates factors X and IX which activates factor II (prothrombin) to Factor IIa (thrombin) which creates fibrin molecules that interlink platelets in a clot

Answer 660

exenatide and liraglutide increase glucose dependent insulin release and decrease glucagon secretion delays gastric emptying providing pt with a full feeling effect

Answer 661

canagliflozin and dapagliflozin block reabsorption of glucose in renal tubules

Answer 662

pioglitazone and rosiglitazone activate peroxisome proliferator activated receptors to increase target cell response to insulin Adverse Effects: FLUID RETENTION and weight gain, increase risk of heart failure, **rosiglitazone - increased risk of cardiac failure** ***can use in pt with CKD***

Answer 663

Osteoporosis - normal on all loss of trabecular and cortical bone mass and is commonly from increased bone reabsorption Primary hyperPTH - elevated calcium, low phosphate, mildly elevated ALP high PTH causes increase in calcium and compensation bone turnover slightly increases ALP 2ndary hyper PTH - low calcium, high phosphate and ALP usually due to CKD which leads to high phosphate and low calcium, high PTH leading to high bone turnover which gives high ALP Paget's - normal calcium and phosphate with elevated ALP due to high osteoclast activity triggering high osteoblast activity Metastatic Bone Cancer - high calcium, low phosphate, high ALP common in metastatic bone cancer

Answer 664

usually presents in childhood with combination of ocular defects, deafness, and hematuria

Answer 665

Caused by Mycobacterium leprae - obligate intracellular acid fast bacillus that can't be cultured and thrives in cold temperatures Lepromatous leprosy increased Th2 response with reciprocal inhibition of Th1 response - inadequate cell-mediated immune response - many lepra bacilli Nerve lesions are result of M. leprae invasion Clinical features: Cutaneous - multiple symmetrical macules/plaques/nodules, generalized involvement, facial nodules may coalesce (leonine facies) Nerve involvement - acral/distal/symmetrical asthesias, usually begins with stocking glove pattern and spreads proximally Tuberculoid leprosy increased Th1 response - strong cell mediated immune response - granuloma with epithelioid cells and lymphocytes but few or no leprae bacillus Clinical Features: Cutaneous - few/maybe 1-3 lesions, lesions are dry/scaly/anhidrotic, HAIR LOSS, HYPERESTHESIA OF SKIN LESION IS COMMON and occurs early ***hypopigmented skin lesions, nerve thickening, peripheral nerve palsies*** Dx: skin scraping, punch biopsy, Lepromin test Tx: Dapsone and rifampin for both add Clofazimine for lepromatous

Answer 666

ankylosing spondylitis, psoriatic arthritis, reactive arthritis, arthritis associated with IBD

Answer 667

NSAIDs, sickle cell hematuria with no casts, flank pain, no stones on CT, no hydronephrosis

Answer 668

guanosine analogue incorporation of phosphorylated drug into the replicating viral DNA strand - inhibition of DNA polymerase - termination of viral DNA synthesis Systemic tx of choice for CMV retinitis (fluffy yellow/white lesions of the retina with small areas of hemorrhage and CD4+ count of 35) in immunocompromised pts CMV prophylaxis in transplant recipients Adverse effects: myelotoxicity - pancytopenia, nephrotoxicity

Answer 669

Oseltamivir, Zanamivir prevent release of viral progeny used for both tx and prophylaxis of influenza A and B

Answer 670

***can potentiate the myopathy effects of statins

Answer 671

anticonvulsant used to treat neuropathy in pts with DM gamma-aminobutyric acid analog but doesn't bind to gamma-aminobutyric sites inhibits pre-synaptic calcium channels preventing release of excitatory glutamate and thereby providing analgesia

Answer 672

antifungal inhibits squalene epoxidase and prevents sterol synthesis

Answer 673

hypertension, acne, hirsutism, striae, hypertrichosis, weight gain, mood swings (depression, agitation), type 2 DM, immunosuppression, osteoporosis long term corticosteroid use

Answer 674

Selegiline, Tranylcypromine, Phenelzine, Isocarboxazid nonselective inhibition of monoamine oxidase - decreased breakdown of epinephrine, NE, serotonin, and dopamine - increased levels of those hormones ***Selegiline - Selective MAO-B inhibitor - mainly decreases breakdown of Dopamine Uses: Major depressive disorder (3rd or 4th line therapy), Selegiline for parkinson disease, Anxiety Adverse effects: HTN CRISIS WITH INGESTION OF FOODS CONTAINING TYRAMINE, CNS Stimulation

Answer 675

1st line tx for asymptomatic UTI in pregnant women damages bacterial DNA and ribosomal proteins after intracellular reduction into reactive molecules

Answer 676

blocks reuptake of NE, dopamine, and serotonin by presynaptic transporter pumps in central and peripheral system Clinical Features: Sympathetic system overactivation, psychomotor agititation, HTN, tachycardia, headache, MYDRIASIS, convulsions, cerebral hemorrhage or infarction, cardiac arrhythmias, respiratory failure, rhabodomylysis

Answer 677

blocks NMDA receptors CLinical Features: aggressive or reckless behavior, nystagmus, seizures, hallucinations, tachycardia, HTN

Answer 678

prevents vesicular fusion by cleaving a component of the soluble N-ethylmaleimide sensitive factor attachment protein receptor complex inhibits release of ACh at the presynpatic terminus of cholinergic motor and sensory neurons Clinical Features: descending flaccid paralysis

Answer 679

selective A1 antagonists Uses: HTN and BPH Adverse Effects: may produce first dose orthostatic hypotension, syncope, headache

Answer 680

increased release and decreased reuptake of NE and dopamine Clinical features: improved concentration and cognition Adverse Effects: decreased appetite, weight loss, HTN, tachycardia, insomnia

Answer 681

inhibits renal metabolism of drugs specifically in proxmal renal tubule enzyme dehydropeptidase-1 ***use less with pt in renal failure as the Cilastatin will accumulate and caused nephrotoxicity***

Answer 682

Reactivation of Herpes Zoster virus Tx: Vavcyclovir - prodrug of nucleoside analog that must be activated by viral thymidine kinase converted to acyclovir in liver - when activated forms a guanosine analog that results in chain termination when read by DNA polymerase

Answer 683

Miosis - constriction Alpha 1 antagonists - no effects on ciliary muscle = no blurry vision (normal accomodation) M3 agonists - ciliary muscle contracts "accomodates" for near vision but can't relax = blurred far vision Mydriasis - dilation of pupil Alpha 1 agonists - no effect on ciliary muscle = no blurred vision M3 antagonists - ciliary muscle relaxes to "accomodate" for far vision but can't contract = blurred near vision

Answer 684

Tylenol aka N-acetyl-p-aminophenol reversibly inhibits COX (mainly in CNS) Adverse effects: Hepatotoxicity Antidote: NAC or N-acetylcysteine ***Toxic product accumulation with OD is N-acetyl-p-benzoquinone***

Answer 685

Venlafaxine, Duloxetine, Desvenlafaxine, Levomilnacipran, Milnacipran inhibition of serotonin and Neroepinephrine reuptake in synaptic cleft Uses: Major depressive disorder, generalized anxiety, neurpathic pain (DM) Adverse effects: similar to SSRIs, stimulant effect, HTN, insomnia, nausea ***Risk of serotonin syndrome*** ***Venlafaxine used for unipolar depressive disorder but don't mistake bipolar otherwise provoke mania state***

Answer 686

inhibition of serotonin and norepinephrine reuptake in synaptic cleft Secondary amines - Nortryptyline, Desipramine, Protriptyline, Amoxapine Tertiary amines - Amitriptyline, Clomimipramine, Doxepin, Imipramine, Trimipramine Adverse Effects: orthostatic hypotension, Prolonged QT SYNDROME, ANTICHOLINERGIC EFFECTS

Answer 687

atypical antidepressant selective a2 adrenergic antagonist - increased serotonin and norepinephrine release 5HT-2 and 5HT3 receptor antagonists - increased effect of serotonin on free 5HT receptors H1 antagonists Uses: Major Depressive disorder - especially pts that are underweight and/or have insomnia Adverse effects: increased appetite and weight gain, SEDATION, increased triglycerides and cholesterol,

Answer 688

promotes surfactant production

Answer 689

exposure to high temperature while doing extrenuous activity thermoregulation of palms and soles is mediated through decreased sympathetic activity which causes reduced vasoconstriction, incerased blood flow, and increased heat dispersion

Answer 690

released by S cells in duodenum increase secretion of bile, pancreatic secretion of bicarbonate decrease secretion of gastric acid stimulated by postprandial fatty acids/glucose/amino acids entering small intestine

Answer 691

A Fibers - light touch, proprioception, immediate pain response A-alpha - sensory, heavily myelinated, large diameter, innervate propriocepters and mechanoreceptors A-Beta - sensory, heavily myelinated, medium diameter, innervate propriocepters A-Delta - sensory, heavily myelinated, small diameter, innervate mechanorecptors/nocireceptors/thermoreceptors (RESPONSIBLE FOR WITHDRAWAL REFLEX WHEN TOUCHING HOT SURFACE) A-Gamma - sensory, heavily myelinated, small diameter, innervate muscle spindle and respond to stretch C Fibers - itch, temperature, delayed pain Unmyelinated and contduct slower than A and B fibers Meissner Corpuscles - fine touch Pacinian corpuscles - pressure and vibration Merkel Discs - static touch and position Ruffini corpuscles - sense joint angle change, pressure, slippage of objects along surface of skin

Answer 692

Low arteriolar partial pressure of Oxygen ***Most pts the high partial pressure of CO2 is what promotes the respiratory drive but with chronic hypercapnia (chronic COPD) it's different as the respiratory center has become tolerant of the high CO2 partial pressure*** **Drive is also influenced by pH, pain, and fever***

Answer 693

sever malnutrition marked by muscle atrophy, peripheral pitting edema, abdomen distention, hepatomegaly

Answer 694

Cranial nerve VIII compression - unilateral hearing loss and vertigo Utricle and Saccule degeneration - vertigo Cochlear nuclei trauma - unilateral hearing loss Organ of Corti hairs: Proximal hair damage - high pitched hearing Distal hair damage - low pitched hearing ***Prebycusis is loss of hair cells in proximal region of organ of Corti resulting in bilateral high pitched hearing loss (

Answer 695

Neurophysins transport proteins from hypothalamus to posterior pituitary storage Neurophysin I transports Oxytocin Neurophysin II transports ADH (vasopressin)

Answer 696

normal platelets increased bleeding time normal PT normal or increased PTT functions for platelet adhesion and a protein carrier for factor VIII

Answer 697

decreased platelets increased bleeding time normal PT normal PTT

Answer 698

Serum - product of centrifugation AFTER COAGULATION Plasma - product of centrifugation of anticoagulated whole blood contains clotting factors and fibrinogen ***RBCs, WBCs, and platelets are seperated from both during centrifugation*** ***Albumin and immunoglobulins are present in both after centrifugation***

Answer 699

N. meningitidis causing meningitis can lead to adrenal hemorrhage Sx: Hypotension, Hypoglycemia, Hyponatremia, Hyperkalemia, positive Brudzinski sign (neck flexion = hip/knee flexion),

Answer 700

endogenous endocrine hormone high BMI, food intake, glucose and insulin have positive effects on levels of leptin responsible for appetite suppression ***Ghrelin is opposite***

Answer 701

iodine diet deficiency cognitive and growth delay, umbilical hernia, goiter, short limbs, reduced bone age, coarse facial features, macroglossia

Answer 702

Carotid massage stimulate parasympathetic nervous system, which communicates with the SA node of the heart through the vagus nerve to slow the rate of conduction

Answer 703

unilateral, dull, achy pain (seldom severe) initiated after rupture of mature follicle during ovulation in the middle of menstrual cycle rupture may cause bleeding and release of prostaglandins that in turn irritate peritoneum which brings the dull/achy pain

Answer 704

hormone produced in the gut in response to food promotes insulin release

Answer 705

send axonal projections transmitting cerebellar cortical activity to deep cerebellar nuclei inhibitory cells primarily release GABA (inhibitory neurotransmitter) onto the nephrons of deep cerebellar nuclei

Answer 706

MAGNESIUM ISSUE probably hypermagnesemia due to exogenous magnesium intake worsened in pt with ESRD due to inability to get rid of Mg through ascending loop of henle

Answer 707

Raphe Nucleus

Answer 708

PE rule fucking out PE!

Answer 709

stimulates appetite decreases in fed state

Answer 710

HAVOCS - Hot flashes Atrophy of Vagina, Osteoporosis Coronary artery disease Sleep distubances

Answer 711

Thyroxine containing diet pills can cause A-FIB

Answer 712

because pt is healthy the glucose will be immediately metabolized essentially giving free water this will decrease plasma osmolality decrease ADH secreted by posterior pituitary decrease urea reabsorption from collecting duct

Answer 713

causes renal wasting of potassium hypokalemia

Answer 714

As peak contraction happens there is pressure put on fetal head and the HR decreases early decelerations begin and end with contractions

Answer 715

Iron - Duodenum Vitamin B12 - Ileum Folate - Jejunum Fatty acids/Proteins/Carbs/Fat soluble Vitamins - Jejunum and Ileum

Answer 716

metabolic acidosis with high anion gap formic acid found in serum

Answer 717

deoxyhemoglobin T-hemoglobin more offloading of oxygen right shift in oxygen dissociation curve more 2,3 bisphosphoglycerate promotes T-hemoglobin

Answer 718

Clinical features: sensorineural deafness, family hx of sudden death, Prolonged QT on ECG, caused by mutated voltage-gated K+ channels

Answer 719

dysfunction leads to orthostatic hypotension decreased BP - decreased baroreceptor activation - decreased signal to brain stem - decreased parasympathetic stimulation and increased sympathetic stimulation - vasoconstriction - increased HR/SV/BP

Answer 720

arrested in prophase I until ovulation arrested in metaphase II until fertilization

Answer 721

holds pituitary gland

Answer 722

fall in BP with inspiration due to pericardial effusion increased right ventricular filling, decreased left ventricular filling, decreased stroke volume during inspiration

Answer 723

occurs when there is obstruction of blood flow to hepatic veins or the IVC by an acute clot or malignant compression associated with hypercoaguable state common causes: pregnancy, oral contraceptives, myeloproliferative disorders, clots

Answer 724

left supravclavicular lymph node metastasis Gastric metastasis source

Answer 725

Abruptio placenta 3rd trimester painful bleeding, premature seperation of placenta from uterus prior to fetal delivery, ABRUPT AND PAINFUL bleeding ***risk factors include smoking and cocaine use***complications can lead to DIC Placenta previa attachment of placenta over internal cervix os, PAINLESS VAGINAL BLEEDING in 3rd trimester Placenta Accreta spectrum formerly called morbidly adherent placenta, abnormal invasion of trophoblastic tissue into uterine wall accreta - attaches to myometrium without invading increta - partially invades myometrium percreta - completely invades or "Per"forates the myometrium and serosa ***firm uterus, common after multiple Caesarean sections*** Vasa previa fetal vessels run over or are <2cm from running over cervical os **painless bleeding during pregnancy that also results in fetal heart rate changes, can result in fetal death from exsanguination

Answer 726

Cytotrophoblasts inner layer responsible for making cells Syncytiotrophoblasts outer later responsible for synthesizing and secreting hormones (hCG to keep corpus luteum to secrete progesterone in 1st trimester ***lacks mhc I to prevent attack from maternal immune system

Answer 727

Minimal Change disease effacement of podocytes, absence of immunoglobulins Post streptococcal glomerulonephritis subepithelial humps IgA nephropathy mesangial deposits of IgA SLE SubENDOthelial deposits Membranoproliferative Glomerulonephritis Type II (hepatitis C) , and Alport syndrome (will also have visual distubances and sensorineural hearing loss) dense deposits within the basement membrane, splitting and alternating thickening and thinning of GBM on light microscopy Goodpasture Syndrome (anti-GBM antibody) Membranous nephropathy "Spike" and "Dome" appearance of subepithelial deposits RPGN glomelular crescent moon shape DM hyaline arteriolosclerosis in glomeruli, non enzymatic protein glycation Amyloidosis deposition of beta-sheet fibrils within the mesangial matrix AND glomeruli

Answer 728

chronic inflammatry condition associated with smoking and obesity tender inflammatory nodules, sinus tracts, draining fistulae and scars in the axilla/inframmatory folds/perianal region

Answer 729

arteriovenous nicking - uncontrolled chronic hypertension cupping - open angle glaucoma, progressive peripheral to central vision loss, associated with increased ocular pressure increased lens opacity - cataracts detatched or floating retina - retinal detachment cherry-red spot at fovea and sometimes cotton wool spots - ischemia/possible thrombosis, acute onset unilateral vision loss

Answer 730

PRECURSOR TO SQUAMOUS CELL CARCINOMA scaly pink macules and papules

Answer 731

RHEUMATIC HEART DISEASE! mitral stenosis consequence of rheumatic fever in childhood from group A strep Aschoff bodies (T cells, plasma cells, Anitschkow cells)

Answer 732

more common in females difficulty sleeping, chronic fatigue, chronic widespread musculoskeletal pain

Answer 733

bilateral proximal muscle weakness and increased ESR and creatinine phosphokinase inflammation of endomysium

Answer 734

evident when burr cells are on blood smear pyruvate kinase used in glycolysis to make ATP and the ATP helps keep erythrocyte structure intact

Answer 735

Paranoid pervasive distrust, accusatory, suspiciousness, hypervigilance, profoundly cynical view of the world Schizoid prefers social withdrawal, solitary activities, limited emotional expression, indifferent to others opinions and beliefs Schizotypal eccentric appearance, odd beliefs, magical thinking, interpersonal awkwardness,

Answer 736

Anti-social persistent disregard for other people's rights, exploits others without guilt, poor interpersonal relationships, dont obey the law borderline unstable mood and interpersonal relationships, fear of abandonment, impulsivity, self-mutilation, suicidality, sense of emotional emptiness, splitting is major defense mechanism Narcissistic grandiosity, sense of entitlement, lacks empathy and requires excessive admiration, often demands the "best" and reacts to criticism with rage or defensivness, fragile self esteem

Answer 737

avoidant social inhibition with oversensitivity to critism/fear/being disliked, self consciousness, feelings of inadequacy Obsessive-Compulsive preoccupation with order, perfectionism, and control, egosyntonic, behavior consistent with one's own beliefs and attitudes Dependent excessive need for support, submissive, low self-confidence, often stuck in abusive relationships

Answer 738

defective MRP2 (multi drug resistance-associated protein 2) impaired excretion of conjugated bilirubin from the hepatocytes to the bile canaliculi Dx: hyperbilirubinemia Liver Biopsy: dark granular pigmentation

Answer 739

HLH life threatening hematologic disorder involving pancytopenia and severe inflammation due to INCREASED ACTIVITY OF T CELLS AND MACROPHAGES clinical features: fever, hepatosplenomegaly Lab findings: pancytopenia, increased serum ferritin bone marrow biopsy: phagocytosis of hematopoietic cells

Answer 740

Meniere Disease: impaired endolymph resorption that results in endolymph hydrops (accumulation of fluid in the endolymphatic sac) recurrent episodes of acute, unilateral symptoms that last from minutes to hours TRIAD: PERIPHERAL VERTIGO, TINNITUS, SYMMETRIC FLUCTUATING SENSORINEURAL HEARING LOSS BPPV: most common peripheral vestibular vertigo dilodged free floating otoconia (endolymphatic debris) abnormal stimulation of vestibulocochlear nerve after movement of head or positioning, SEVERE ATTACKS THAT LAST SEVERAL SECONDS Sudden dizziness lasting less than 1 minute, associated with nystagmus CONSIDER SOMETHING ELSE IF hearing loss, longer than 1 minute dizziness, neurological symptoms Vestibular neuritis: inflammation of vestibular nerve with sx of vestibular hypofunction (vertigo nausea, vomiting, gait instability) Clinical features: sudden onset vertigo, nausea, vomiting, gait instability, increased risk of falling to affected side, nystagmus LABRYNTHITIS - viral infection traveled to ear via oval/round window. Similar sx with hearing loss added Acoustic neuroma: benign tumors arising from Schwann Cells more commonly unilateral ***bilateral think Neurofibromatosis type II** most common tumor in cerebellopontine angle Tumor putting pressure on vestibulocochlear nerve (unilateral sensorineural hearing loss, dizziness), later may put pressure on trigeminal and facial nerve (unilateral face pain and weakness) Biopsy: Schwann cell tumor, spindle cells in palisades(antoni A) alternating with mixoidhypocellular areas (antoni B)

Answer 741

excessive calcium influx and result in hypercontraction of sarcomeres calcium release from membrane degradation after reactive oxygen species release, and after phospholipases are activated

Answer 742

Weber test: tests for lateralization (sound heard louder in one ear than the other) normally heard equally in both ears Lateralization = asymmetric hearing loss No lateralization = no hearing loss or bilateral hearing loss Exam: place base of tuning fork at base of forehead, ask pt if louder in one ear Rinne test: Tests for air conduction vs bone conduction in the examined ear Unable to hear tuning for; conductive hearing loss (bone > air) in the examined ear (Rinne test is negative) Still able to hear the tuning fork over the outer ear; no conductive hearing loss (Rinne test positive); possible sensorineural hearing loss (air conduction > bone) if diminished hearing in the examined ear Exam: place base of tuning fork on mastoid process, wait until pt can no longer hear the tuning fork then move it to outside the ear and ask if they can hear it (normally pt should still be able to hear it) ***Tympanic membrane rupture causes conductive hearing loss on affected side (lateralization to affected side and bone>air conduction on affected side***

Answer 743

highly malignant bone tumor arising from neuroectodermal translocation of ESWR1 gene on Chr22 peaks from 10-20y/o primary tumor primarily in diaphysis of long bones (legs and humerus) X-ray: lytic bone lesion with onion skin appearance of the periosteum Biopsy: anaplastic small blue round cell malignancy, cells resemble lymphocytes,

Answer 744

B=Bitches autoimmune inflammation and destruction of the small and medium sized intrahepatic bile ducts (progressive ductopenia) - defective bile duct regeneration - choleangitis clinical features: fatigue, marked PRURITIS, jaundice, pale stool, dark urine, hepatomegaly, RUQ discomfort, hyperpigmentation, xanthomas Dx: increased ALP and GGT and direct bilirubin, hypercholesterolemia, ANTIMITOCHONDRIAL ANTIBODIES, increased IgM ***only INTRAhepatic ducts*** Tx: UDCA (ursodiol) ursodeoxycholic acid

Answer 745

S=son associated with IBD (90% of pt with PSC have IBD) clinical features: jaundice, scleral icterus, pruritus, pale stool, dark urine, fatigue, late stages: cirrhosis/hepatosplenomegaly/portal HTN, IBD sx **intra and extrahepatic ducts*** Dx: P-ANCA positive Imaging: multifocal intra and extra hepatic strictures (beading) Liver biopsy: concentric periductal onion skin fibrosis

Answer 746

Eosinophils - primary fight against parasites Basophils - primary allergic response

Answer 747

Blues - milder sx, start 2-3 days after delivery/peak over next few days/diminished in 2 weeks Unipolar major depression - occuring within 4 weeks of having baby, increased duration and severity compared to blues

Answer 748

bilateral "mucin secreting" "signet ring" cells in the ovaries stomach adenocarcinoma metastasis classic sign of metastatic gastric cancer is left supraclavicular lymphadenopathy involving the VIRCHOWS LYMPH NODE

Answer 749

metabolic acidosis elevated serum osmolality high anion gap confusion, hematuria, crystalluria

Answer 750

CLL Chronic Lymphocytic leukemia age > 60 most common adult leukemia !!!CD20/23/5+ B cell neoplasm!!!! Lethargy, frequent infection, lymphadenopathy, hepatosplenomegaly, high wbc with lymphocyte prodominance (small smudge appearing) common !!!B cell disorder!!! in elderly ***Warm (IgG) and less commonly cold (IgM) AUTOIMMUNE HEMOLYTIC ANEMIA are known complications of CLL occuring from the production of mature or malignant lymphocytes***

Answer 751

diminishes when standing

Answer 752

aortic stenosis

Answer 753

mitral regurg increases blood flow through incompetent valve

Answer 754

mitral regurg

Answer 755

mitral regurg

Answer 756

aortic stenosis

Answer 757

1 or more delusions lasting longer than 1 month no mood disorder or hallucinations nonbizzare persistance/fixed/false beliefs that are focused around a particular topic

Answer 758

meningeal scarring causing obstruction to CSF reabsorption by arachnoid villi hydrocephalus

Answer 759

type of communicating hydrocephalus impaired CSF reabsorption TRIAD: URINARY INCONTINENCE, GAIT INSTABILITY, COGNITIVE DECLINE ***wet, wobbly, wacky***

Answer 760

think metastasis common cancers that metastasize are from breast/prostate/lung/thyroid/testes/kidney

Answer 761

pineal tumor ***craniopharyngioma and pituitary adenoma cause bitemporal hemianopsia

Answer 762

2/3 pts have had upper resp or GI infection up to 6 weeks prior Campylobacter enteritis, CMV, HIV postinfectious autoimmune reaction that generates cross reactive antibodies (molecular mimicry) infection triggers humoral response - formation of autoantibodies against gangliosides (GM1, GD1a) or other unknown antigens of peripheral Schwann cells - immune-mediated segmental demyelination - axonal degeneration of motor and sensory fibers in peripheral and cranial nerves CNIII-CNXII Clinical features: bilateral and ascending flaccid paralysis ascending from lower limbs, paresthesia (stocking glove distribution), HYPOREFLEXIA, NOCICEPTIVE AND NEUROPATHIC PAIN, cardiac arrhythmias, may lead to resp failure, facial diplegia Tx: Iv immunoglobulin ***pathogenesis: lymphocytic infiltrate of the endoneurium***

Answer 763

upper and lower neuron degeneration Clinical Features: General - both upper (UP - tone reflexes toes during Babinski) and lower motor neuron (LOW - mass tone power reflexes) signs are present Early - Asymmetric limb weakness, dysarthria, dysphagia, tongue atrophy, fasiculations, cramps, muscle stiffness Late - cognitive impairment, autonomic sx (constipation, bladder dysfunction), Respiratory failure, dysphagia

Answer 764

Beryllium - aerospace work Asbestos - shipbuilding, roofing, plumbing Silica - Glass manufactoring Alfatoxin B1 - contaminant in cereals, nuts, spices (associated with hepatocellular carcinoma

Answer 765

SIGECAPS - Sleep (insomnia or hypersomnia), Interest loss (anhedonia), Guilt, low Energy or fatigue, poor Concentration, decreased or increased Appetite, Psychomotor agitation, Suicidality Major Depressive disorder - sx > 2weeks with at least 5 SIGECAPS sx and one must be depressed mood or anhedonia (lack of pleasure) Persistent depressive disorder - sx >2 years, at least 2 SIGECAPS present most of the day for majority of days Adjustment disorder - depressive sx occur in the setting of a significant stressor and last for less than 6 months PTSD - acute stress disorder - x < 1 month of sx

Answer 766

Somatic symptom disorder - excessive thoughts/feelings/beliefs related to physical sx that may or may not be related to a medical condition Conversion disorder - voluntary motor or sensory sx cannot be explained by a neurologic or other medical condition

Answer 767

Schizophrenia - sx lasting longer than 6 months Schizoaffective - sx along with mania or depression Schizophreniform - positive and negative sx lasting 1-6 months Brief Psychotic Disorder - sx lasting less than 1 month

Answer 768

Complete: 46XX or 46XY all paternal derived uterine size larger than expected for the stage of pregnancy, highly elevated beta-hCG enucleated ovum is fertilized by sperm and duplicates US: distended uterus with a heterogeneously echogenic mass, multiple hypoechoic foci "bag of grapes" and no fetal parts Partial: 69xxy/69xxx/69xyy extra paternal set 2 sperm and 1 egg has partial fetal parts P57 postitive elevated beta hCG but not as much as complete

Answer 769

both cause hypercoagulable states FACTOR V LEIDEN IS MOST COMMON INHERITED THROMBOPHILIA caused by defect in factor V not allowing it to be broken down by protein C

Answer 770

condition in which both testis don't descend properly increased risk of testicular germ cancers and infertility

Answer 771

flat warts primarily HPV 3 and 10 Verruca plana

Answer 772

cocksackie A virus fever, oral ulcers maculopapular and somehwat vesicular rashes on hands and feet and occasionally buttocks

Answer 773

Rubella virus (RNA, SS, +, enveloped) asymptomatic in 50% of cases Prodromal phase: post-auricular, and suboccipital lymphadenopathy fever, aching joints Forchheimer sign (exanthem of soft palate) Exanthem phase: fine, NONCONFLUENT, pink maculopapular rash (begins at head behind ears and moves peripherally but not to soles and palms and can be itchy in adults) polyarthritis prevent with live attenuated vaccine (measles, mumps, rubella)

Answer 774

RNA virus causes measles Prodromal stage: coryza, cough, conjunctivitis, fever, KOPLIK SPOTS (pathognomonic maculopapular exanthem of the buccal mucosa, several tiny white or blue spots on an irregular erythematous background, manifest 1-2 days after exanthem stage), rash is PARTIALLY CONFLUENT Exanthem stage: about 48 hours after prodromal stage and lasts 4-7 days erythematous maculopapular rash that is initially blanching and can be confluent behind ears, disseminates from head to rest of body, generalized lymphadenopathy VITAMIN A CAN HELP ***CAN CAUSE SUBACUTE SCLEROSING PANENCEPHALITIS - LETHAL GENERALIZED DEMYELINATING INFLAMMATION OF BRAIN CAUSED BY PERSISTENT MEASLES VIRUS, DEATH WITHIN 1-3 YEARS OF DX***

Answer 775

loss of nerves in myenteric (auerbach) plexus in esophagus progressive dysphagia lack of peristalsis in distal 2/3 of esophagus "BIRD'S BEAK" barium study image

Answer 776

subtype of cutaneous T-cell lymphoma leukemic and skin malignant T-cell involvement Clinical features: lymphadenopathy, erythroderma, pruritis Dx: CD4+ > 1000 T-cell receptor clonal rearangement in skin and blood lymphocytes ERYTHRODERMA INVOLVING x > 80% of body is required

Answer 777

evaluation of steatorrhea

Answer 778

rupture of distal esophagus

Answer 779

friable mass in distal esophagus

Answer 780

Celiac disease - type 4 hypersensitivity, flat mucosa with loss of villi and increased intraepithelial lymphocytes Intestinal overgrowth - examples are E. coli and C. difficile, shortened, blunted villi and elongated crypts with WBCs infiltrating the lamina propria

Answer 781

dyesthesia, and loss of sensation osmotically mediated schwann cell damage due to chronic hyperglycemia

Answer 782

oligoclonal bands in csf leads to destruction of cerebral white matter and demyelination

Answer 783

peripheral artery disease at area of aortic bifurcation or bilateral iliac artery occlusioin triad of thigh/hip claudication, ED, absent/diminished femoral pulses

Answer 784

bilateral motor paralysis loss of pain and temperature sensation autonomic dysfunction

Answer 785

hemisection of spinal cord ipsilateral loss of sensation, proprioception, fine touch, vibration sense contralateral loss of pain and temperature sensation ipsilateral loss of motor function

Answer 786

bilateral paresis syringomyelia

Answer 787

ipsilateral loss of proprioception, vibration, and touch sensation

Answer 788

acute spinal cord compression back pain LE weakness and numbness normally after a puncture of dura mater

Answer 789

rapidly progressive dementia with myoclonus and ataxia fatal caused by prions (PrPc to PrPsc, beta pleated sheet resistant to proteases 14-3-3 protein increased in CSF

Answer 790

most common cause of dementia in older pts widespread cortical atrophy senile plaques in gray matter neurofibrillary tangles hyperphosphorylated tau protein decreased beta amyloid 1-42 in CSF

Answer 791

formerly called pick disease early changes in personality and behavior or aphasia may have associated movement disorders frontal or temporal lobe atrophy inclusion of hyperphosphorylated tau

Answer 792

Lewy body dementia visual hallucinations dementia with fluctuating cognition/alertness parkinsonism, REM sleep behavior disorder intracellular LEWY bodies primarily in cortex ***CALLED LEWY BODY DEMENTIA IF COGNITIVE AND MOTOR SX OCCUR < 1 YEAR APART otherwise dementia 2nd to parkinson disease Parkinson disease mainly effects movement (bradykinesia, narrow-based shuffling gait, tremor, rigidity loss of dopaminergic neurons (substania nigra pars compacta

Answer 793

memory lapses poorly controlled antiviral therapy in HIV positive pt pt usually withdrawn, poor attention and concentration diffuse or patchy symmetrical hyperintensities on MRI cerebral atrophy hyperintensities on deep white matter sparring subcortical white matter

Answer 794

organophosphate poisoning

Answer 795

pre-contemplation contemplation preparation action maintenence relapse

Answer 796

Reflex - detrusor/sphincter dyssynergia Urge - detrusor overactivity Stress - urethral hypermobility Overflow - impaired detrusor contractility Total - loss of sphincter control

Answer 797

higher chance at hydrocele

Answer 798

varicocele

Answer 799

sperm collection in epididymal duct

Answer 800

lack of testicular fixation

Answer 801

Direct - inguinal canal floor weakness, weakens with age Indirect -

Answer 802

CF will have steatorrhea, and absence of vas deferens Kartagener will have situs inversus

Answer 803

((A / (A+B)) / (C / (C+D))

Answer 804

[c/(c + d)) – (a/(a + b)]

Answer 805

(A*D)/(C*B)

Answer 806

1-relative risk 1-((A / (A+B)) / (C / (C+D))

Answer 807

PPV = A/(A+B) NPV = D/(C+D)

Answer 808

researchers select pts with and without disease/outcome of interest used to determine odds ratio

Answer 809

analyze data from a representative subset of a population at a specific point in time to determine the prevalance or risk factors of a disease

Answer 810

Validity - how well the results of the test reflect what is was developed to do Precision - how well an outcome can be reproduced Accuracy -

Answer 811

power = 1-beta decrease beta and type II error increases power

Answer 812

series of reports on similar cases of a disease or exposure

Answer 813

individuals selected base on exposure and then it is observed if these individuals developed a specific disease

Answer 814

x>0.05 is not significant X<0.05= significant probability that the results of the test will be at least as extreme as the result actually observed

Answer 815

pts are prospectively selected and randomly assigned a control or treatment group

Answer 816

population does not match/reflect the target population

Answer 817

Type II error - null hypothesis is accepted when its actually false probability of type II error is denoted by beta Type I error - null hypothesis is rejected when its actually true probability of type I error is denoted by alpha

Answer 818

when the effect between an outcome and exposure is changed by the presence and absence of a third variable

Answer 819

measurement is influenced by the observers knowledge or expectation

Answer 820

used when a group is seperated into subgroups to see if the outcome that was true for the entire group remains true in the subgroups

Answer 821

subdural hematoma is most common most likely to have torso bruising as well, retinal hemorrhages, lethargy

Answer 822

urine albumin:creatinine ratio

Answer 823

myopia - nearsightedness, can see near, light focused in front of retina Hyperopia - farsightedness, can see far, light focused behind retina presbyopia - old age, unable to accomidate

Answer 824

Charcot triad: jaundice, fever, upper right abd pain no elevation of liver enzymes but increase in direct bilirubin

Answer 825

Gonococcal conjunctivitis - first 5 days of birth Chlamydial conjunctivitis - day 5 to 14 after birth HSV keratoconjunctivitis - approximately 2 weeks after birth

Answer 826

hereditary fructose intolerance child weaning off breast feeding and given fruits vomiting, poor feeding, HYPOGLYCEMIA, jaundice, hepatomegaly Fructokinase deficiency "essential fructosuria" asymptomatic accumulation of fructose leading to excretion in urine

Answer 827

Galactokinase deficiency galactitol accumulation in lenses cataracts in early infancy develops in infancy during breastfeeding galactose 1 phosphate uridyltransferase deficiency immediate rejection to breastfeeding and formula after birth "classic galactosemia" hepatomegaly, jaundice, poor feeding, vomiting, hypoglycemia

Answer 828

lowers cerebral edema via vasoconstriction cerebral perfusion regulated by pCO2 pt mechanically ventilated can be managed with therapeutic hyperventilation reduction of pCO2 results in vasoconstriction limiting cerebral blood flow

Answer 829

Dominant - onset in pt >30y/o hematuria, HTN, recurrent UTIs, flank pain, berry aneurysms PKD1 and PKD2 US: enlarged kidneys, multiple parenchymal anechoeic masses Recessive - normally onset during infancy, ESRD by teenage years, and a reduced lifespan

Answer 830

superficial thrombophlebitis recurring thrombophlebitis in changing locations, red tender extremities hypercoagulability in pancreatic cancer

Answer 831

blocks postsynaptic type 2 serotonin receptors (5-HT2) weak inhibition of serotonin reuptake antagonist of H1 and a1 adrenergic receptors used for insomnia and high dose fr Major depressive disorder (high doses) Adverse effect: PRIAPRISM, sedation, orthostatic hypertension

Answer 832

chronic fungal infections autoimmune regulator gene

Answer 833

HGPRT deficiency X linked recessive upregulation of de novo purine synthesis