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141 Cards in this Set
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Acute Lymphoblastic Leukemia presenting symptoms
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persistent fever, bleeding/bruising, infection, bone pain, lymphadenopathy, organomegaly
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what causes long bone pain in ALL
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leukemic involvement of the periosteum (limp or refuse to bare weight)
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ALL labs
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anemia and/or thrombocytopenia; WBC normal or low; peripheral smear=immature cells (lymphoblasts); bone marrow biopsy=hypercellular marrow filled with blasts
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Fanconi anemia
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inherited syndrome of bone marrow failure; 6-9 yo; aplastic anemia
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common congenital malformations in Fanconi anemia
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short stature, hypopigmented spots on skin, thumb abnormalities, microcephaly, and hypogonadism
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Fanconi labs
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mild/moderate thrombocytopenia (can be misdiagnosed as ITP); mild, macrocytic anemia
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Idiopathic thrombocytopenic purpura (ITP)
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thrombocytopenia; present with bleeding tendancies and easy bruising=petechiae and purpura
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ITP labs
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isolated thrombocytopenia without anemia or neutrophilia; normal peripheral smear
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Juvenile RA
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joint pain or abnormal joint use, spiking fevers, evanescent rash on trunk/extremities
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PE of juvenile RA
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synovitis, arthritic joint=intra-articular swelling, pain, warmth, or limitation of joint movement
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juvenile RA labs
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elevated inflammatory markers
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multiple myeloma presentation
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confusion, somnolence, bone pain, constipation, nausea, and thrist
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causes of hypernatremia
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deficit of total body water=diuretics, inadequate water intake, diabetes insipidus, mineralcorticoid excess
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causes of hyperkalemia
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hemolysis, renal insufficiency, burns, medications like ACE inhibitors, mineralcorticoid deficiency
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causes of hypokalemia
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thiazide/loop diuretics, inadequate dietary consumption, DKA, hypomagnesemia
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causes of hypocalcemia
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parathyroid dysfunction, inadequate vitamin D, unusually high magnesium (inhibits PTH)
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hypercalcemia EKG
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altered conduction time=shortened QT interval
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hemophilia A
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X-linked recessive; deficiency factor VIII (intrinsic pathway=PTT)
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folate deficiency presentation
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pathcy hyperpigmentation of skin and mucous membranes, abdominal upset, sore tongue (beefy and swollen)
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bone marrow in B12 deficiency
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megaloblastic anemia with large immature and dysfunctional RBCs with hypersegmented neutrophils
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labs in B12 deficiency
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elevated iron, indirect bilirubin, and lactate dehydrogenase; low levels haptoglobin; RBC count decreased, MVC high, absolute reticulocyte count normal or low
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anemia of chronic kidney disease
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functional iron deficiency=adequate supply, inability to use; serum iron normal, ferritin normal or elevated. Transferrin saturation low; normocytic, normochromatic
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chronic lead exposure anemia
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causes production of free erythrocyte protoporphyrins; degradation of rRNA in RBCs that leads to basophilic stippling on peripheral smear; blue pigmentation along gum-tooth line and wrist/ankle drop on PE; microcytic hypochromatic anemia; sideroblasts on bone marroe
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cause of ringed sideroblasts
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accumulation of mitochondrial iron in erythroblasts from insufficient production of protoporphyrin
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schistocyte
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fragmented RBC; suggests mechanical damage=TTP or HUS, hemolytic anemias, microangiopathic diseases, artificial heart valves
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target cell associations
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liver disease, iron deficiency, thalassemias
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when is serum homocysteine elevated
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folate deficiency, vit B6 and B12 deficiency (less so with B6); levels inversely related to folate consumption
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methylmalonic acid is increased in
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vit B12 deficiency
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iron deficiency anemia labs
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low serum ferririn and iron with elevated serum transferrin and TIBC; low ferritin most sensitive test
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transferrin saturation
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ratio of serum iron to TIBC; most specific indicator of iron deficiency
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iron studies in thalassemia
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normal/high ferrittin, normal/low TIBC; target cells on smear
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antithrombin III deficiency
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cause of hypercoagulable state; causes signs and symptoms of clotting
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Hemophilia B
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deficiency factor IX
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ristocetin cofactor assay
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measure capacity of vWF to agglutinate platelets-used to Dx VWD
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cryoprecipitate
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factors VIII, XIII, vWF, fibrinogen and fibronectin; used to treat hemophilias
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Chronic Mylogenous Leukemia (CML)
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disregulated production and proliferation of mature granulocytes; fusion of BCR on 22 and ABL1 on 9 (philadelphia chromosome)
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symtoms of CML
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recurrent infections and organomegaly, epigastric pain, ab discomfort and early siety (due to large spleen), acute gouty arthritis (overproduction of uric acid), muscle aches, seizure (due to lysis of tumor cells-rare)
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CML labs
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leukocytosis 50,000-100,000+ with L shift towrd granulocytes; peripheral smear=varied stages of neutrophilic cells (myeloblasts, bands, mature cells in segmented form); low leukocyte alkaline phosphatase, high LDH, uric acid, and B12
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Chronic Lymphocytic Leukemia (CLL)
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B cells; most common leukemia>50 yo; often asymptomatic and dx on routine blood work (lymphocytosis 50,000-200,000)
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Dx CLL
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peripheral smear= predominance of mature, small lymphocytes
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essential thrombocytosis
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chronic; platelets>600,000; most asymptomatic at Dx, others Dx via thrombotic events (TIA, DVT)
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classic Hx polycythemia vera
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severe pruritis after hot shower
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chronic lead exposure symptoms
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weakness extensor muscles (wrist/foot drop), hallucinations, delirium, ab pain, loss of appetite, vomiting, constipation, headache, ataxia, somnolence, lethargy, seizures, stupor, coma
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Iron OD 5 phases
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1) GI-severe vomiting and diarrhea 2) latent 3) Cardiovascular 4) hepatic 5) delayed GI symptoms
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Bruton's lines
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purple discoloration of gingiva from lead deposition
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SLUDGE
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salivation, lacrimation, urination, diarrhea, GI upset, emesis; organophosphate poisoning mneumonic
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DUMBELS
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diaphoresis and diarrhea, urination, miosis, bradycardia, bronchospasm, bronchorrhea, emesis, excess lacrimation, and salivation; mneumonic organophasphate OD
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Hairy cell leukemia
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well differentiated B lymphocytes; rare; elderly males
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hairy cell leukemia symptoms
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splenomegaly, weakness, fatigue, petechiae, ab pain, early satiety, weight loss; rarely have lymphadenopathy
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Dx Hairy cell
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tartrate resistant acid phosphatase=TRAP stain and flow cytometry; peripheral smear=hairy cells (mononuclear cells with abundant pale cytoplasm and cytoplasmic projections)
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Rx Hairy cell
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only if symptomatic; nuccleoside analogs
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Hodgkin disease
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predominantely B cell; association with EBV; 3rd or 6th decade of life; nodular sclerosing most common (30s), lymphocyte depletion most common (60s)
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Reed-sternberg cells
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abnormal giant cells with bilobular nuclei and eosinophilic nucleoli
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Nodular sclerosing Hodgkin's lymphoma histo
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lacunar cells with collagen banding
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Waldenstrom's macroglobulinemia histo
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dutcher bodies=PAS staining IgM deposits around nucleus-may be seen within plasma cells of marrow aspirates
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multiple myeloma histo
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plasma cells with fried egg appearance
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pancreatic cancer specs
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heavy smoking, drinking, recurrent pancreatitis; CA19-9 (mucin glycoprotein antigen)-non-specific
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marker for non-seminomatous testicular cancer and hepatocellular carcinoma
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alpha fetoprotein
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ovarian cancer marker
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CA-125
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MEN1
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3 P's=pituitary adenomas, pancreatic islet cell tumors (or duodenal), and parathyroid hyperplasia
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MEN2a
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2 P's=medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid hyperplasia
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MEN2b
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MEN2a+mucosal neuromas, colonic and skeletal abnormalities with marfanoid body habitus
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Thromboticc thrombocytopenic purpura (TTP)
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pentad=microangiopathic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever, renal disease (similar to HUS)
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liver disease coagulopathy
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thrombocytopenia associated with platelet sequestration from splenomegaly=elevated PT and PTT, normal fibrinogen, normal Hgb, low platelets
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tamoxifen
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used in all hormone receptor positive breast cancers
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trastuzumab
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used in HER2/neu breast cancers; SE=cardiotoxicity
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yolk sac tumor (endodermal sinus tumors)
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most common testicular malignancy in prepubertal males; painless testicular mass; metastasis uncommon; AFP>100 ng/ml
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Choriocarcinoma
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most aggressive germ cell tumor; metastasis early and widespread; areas of necrosis and hemorrhage; bHCG marker>1000 IU/L; non homogeneous with calcifications, cystic areas, and indistinct margins
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Leydig cell tumors
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most common testicular sex cord stromal tumor; adult males 40-50 yo; source of androgens-cause feminization=gynecomastia, loss of libido, erectile dysfunction
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Leydig cell tumors in children
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precocious puberty
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sertoli cell tumor
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sex cord stromal tumor, rare<5% cases; associated with Peutz-Jeghers and Carney's syndrome; present any age
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Platelet count for transfusion when actively bleeding
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<50,000/ul; <10,000 without bleeding
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ATN associations
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renal ischemia; muddy brown casts; intrarenal cause of renal failure; urine osmolality<500, urine Na>20, fractional excretion of Na >2%, serum BUN/Cr<15
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allergic interstitial nephritis
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nephritis affecting interstitium of kidneys surrounding renal tubules; eosinophilia, rash, and urinary WBCs; causes=infections, rxn to meds (nafcillin, NSAIDs, rifampin, sulfa drugs, quinolones, diuretics, allopurinol, phenytoin)
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signs and symptoms of intrinsic renal failure
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dysuria, nausea, vomiting, fatigue, malaise, weight loss, hyperkalemia, metabolic acidosis
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RTA IV (distal tubular acidosis)
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defect in Na reabsorption and H ion and K excretion; related to aldosterone deficiency or resistance; presents w/signs of fluid overload, hyponatremia, hyperkalemia, pH<5.3
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Rx of RTA IV
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furosemide, mineralcorticoid +/- glucocorticoid replacement and a low K diet
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All-trans retinoic acid treats what leukemia
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Acute promyelocytic leukemia
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Imatinib treats what leukemia
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Philadelphia chromosome inhibitor used in CML for chronic; dasatinib for blast phase
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Splenectomy and interferon-alpha in hairy cells leukemia
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improves blood counts, but nucleoside analogs are initial Tx of choice (induce remission)
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Labs in Thalassemia
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iron studies normal (normal-high ferritin and normal-low TIBC; hemoglobin eletrophoresis normal for 1 or 2 gene deletions, abnormal for 4 deletions
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Hemoglobin H disease labs
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mod-severe anemia; Hgb 7-10 g/dL, elevated reticulocyte (5-10%), microcytic and hypochromatic
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warm autoimmune hemolytic anemia
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IgG antibodies, extravascular hemolysis and aplenomegaly; secondary to lymphomas, leukemias, and other malignancies
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cold autoimmune hemolytic anemia
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IgM antibodies bind RBCs at 0-5 C=complement activation and inteavascular hemolysis with sequestration in the liver; idiopathic, Mycoplasma pneumoniae
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autoimmune hemolytic anemia labs
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elevated reticulocyte count; direct Coombs test positive; spherocytes present
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sideroblastic anemia
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heresitary or aquired; abnormality in iron metabolism; aquired=lead, drugs, collagen vascular disease, neoplasm; microcytic anemia, increased ferritin and iron, TIBC normal/elevated
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seminoma
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well defined hypoechoic lesion without cystic areas; germ cell tumor of testes from germinal epithelium of seminiferous tubules; ages 5-35 and history of cryptorchidism; bHCG elevated in 15-20%
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Rx stage II seminoma
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bleomycin, cisplatin, etoposide; cisplatin preferred with elevated b-hCG
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Rx stage I seminoma
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radiation-prevents relapse in 96%
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mitochondrial inheritance disorders
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Progressive external opthalmoplegia, myoclonus epilepsy
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x-linked disorders
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fragile x, duchenne's muscular distrophy, hemophilia A and B, Fabry's disease, G6PD, Hunter's syndrome, Wiscott-Aldrich syndrome
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rutuximab MOA
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antibody mediated cytolysis by binding CD20 antigen and inducing complement mediated or antibody mediated cytolysis; used in Burkitt's lymphoma
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methotrexate MOA
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inhibition of dihydrofolic acid reductase=interferes with DNA, RNA, aa formation
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methotrexate uses
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RA, psoriasis, chemotherapy
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Burkitt lymphoma
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non-Hodgkin lymphoma; adolescence and young adults; EBV association
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Rx Burkitt lymphoma
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rituximab (also used inB cell predominant CLL and autoimmune diseases like RA)
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t(8;14)
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c-myc and heavy chain Ig gene; translation in Burkitt's lymphoma
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t(11;14) bcl-1
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mantel cell lymphoma
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t(14;18) bcl-2
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follicular lymphoma
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t(11;22)
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Ewing's sarcoma
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t(9;22) BRC-ABL
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CML=philadelphia chromosome
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acute hemolytic rxn
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fever, chills, hypotension, hemoglobinemia, hemoglobinuria, chest/flank pain; Tx maintain intravascular V and renal fxn w/ IV fluids and diuretics
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Delayed hemolytic rxn
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mild anemia and/or hyperbilirubinemia with slight fever 3-10 days after rxn
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febrile non-hemolytic rxn
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chills and rise in temp >1C; common, dx of exclusion; prevent via leuko-reduced blood; Tx acetaminophen
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Hemaphilia A, B, C, D deficiencies and severity classification
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VIII, IX, XI, XII respectively; >5% activity mild, 1-3% activity moderate, <1% severe
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cryoprecipitate and Hemophilia C
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doesn't contain factor XI, so is not of benefit
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ALL presentation
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ages 2-5 yo; anemia (pallor, fatigue), thrombocytopenia (petechiae), and neutropenia (fever); elevated leukocyte count in over half patients; 20% pancytopenia with no peripheral blasts
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Vit K dependent factors
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II, VII, IX, X
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Waldenstrom's macroglobulinemia
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clonal disorder of B cells leading to monoclonal IgM gammopathy; hyperviscosity syndrome; coagulation abnormalities, cryoglobulinemia, amyloidosis; lethargy, weight loss, Raynaud's phenomenon, neuro complaints (blurry vision, headaches), organ dysfunction; MGUS precursor
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Waldenstrom's macroglobulinemia labs
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elevated ESR, uric acid, LDH, signs of kidney failure, increased alkaline phosphatase; bone marrow required for Dx=Dutcher bodies; Rx plasmaphoresis
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RAI stage 0 for CLL
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lymphocytosis >15,000; ave survival 150 months
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RAI stage 1 for CLL
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lymphocytosis + lymphadenopathy
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RAI stage 2 for CLL
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lymphocytosis + splenomegaly
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RAI stage 3 for CLL
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lymphocytosis + anemia
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RAI stage 4 for CLL
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lymphocytosis + thrombocytopenia; ave survival 19 months
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CLL peripheral smear
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abundance of small, normal appearing lymphocytes and ruptured smudge cells
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3 phases of CML
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chronic, accelerated, and blast phases
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Amciximab
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binds glycoprotein receptor Iib/IIIa on activated platelets and prevents aggregation; Rx in acute coronary syndrome and PCTA
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ITP cause in kids and adults
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usually follows URI in kids and resolves, tends to be chronic in adults
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Multiple Myeloma labs
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hypercalcemia, elevated alkaline phosphatase, elevated protein gap (normal 3-4)
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finateride
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5-alpha reductase inhibitor; Rx benign prostatic hypertrophy
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Ewing sarcoma
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peaks in teens; neural origin; onion skin; primitive neuroectodermal tumor; Rx surgical and chemo
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osteosarcoma
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most common bone cancer in kids; mesoderm derivation; associated with osterogenesis imperfecta
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aniline dye or naphthalene exposure associated with what cancer
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transitional cell carcinoma of bladder
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arsenic exposure associated cancer
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angiosarcoma of liver
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asbestos exposure associated cancer
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bronchogenic carcinoma, mesothelioma
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nitrosamines associates cancer
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esophageal and stomach cancer; found in many smoked foods
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CHOP regimen for lymphoma
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cyclophosphamide, hydroxydanorubicin (or danorubicin or azathioprine), oncovin (vincristine), and prednisone
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FOLFOX regimen for colorectal cancer
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fluorouracil, leucovorin, oxaliplatin
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Rx M3 type of AML
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vitamin A
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Mycosis fungoides
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cutaneous T-cell lymphoma; >45 yo; malignant lymphoma of CD4 memory T cells that extravasate into dermis and are surrounded by Langerhan cells (Pautrier's microabscesses)
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Hodgkin staging
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a=no constitutional symptoms, b=symptoms; stage 1=localized to single node, II=multiple sites same side of diaphragm, 3=more than 2 sites on both sides of diaphragm, IV=disseminated
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ADAMTS13
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aka con Willebrand factor-cleaving protease; deficient in TTP and allows for more thrombogenic environment
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diagnosis of HIT (heparin induced thrombocytopenia)
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serotonin release assay
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JAK2 mutations
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polycythemia vera, essential thrombocytopenia, and myelofibrosis
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Stage 1 Breast cancer
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<2 cm
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Stage 2 Breast cancer
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2a=involvement of 1-3 axillary nodes; 2b=2-5 cm in size
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Stage 3 Breast cancer
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involves axillary lymphadenopathy
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Stage 4 Breast Cancer
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includes distant metastasis
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tumor markers for recurrent breast cancer
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CEA, CA15-3 and CA27-29
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confirmation of lead poisoning
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free erythrocyte protoporphyrin in serum
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