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141 Cards in this Set

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