Term
| Familial Adenomatous Polyposis |
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Definition
| mutation of APC on 5q21, adenomatous polyps in teens/twenties, 100% malignant risk by age 60, thyroid lesions |
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Term
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Definition
| relative with FAP, mutation in exons 1-4 |
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Term
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Definition
| <100 polyps by 50-55 years, mutations in exons 3-4/15 |
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Term
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Definition
| osteomas/fibromas/desmoid tumors |
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Term
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Definition
| colon cancer/medulloblastomas |
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Term
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Definition
| 40% no explained genetic basis (HNPCC), 60% DNA MMR abnormal (Lynch), risk for endometrial/upper GI/upper urinary/ovarian/pancreaticobiliary carcinoma, lymphocytes in tumor, chrons-like inflammation, mucinous pattern, signet ring cells, medullary growth pattern |
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Term
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Definition
| BRCA1 germline mutations, graded on histology/hormonal expression, therapy/prognosis/predictors of response based on ER/PR/HER2 |
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Term
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Definition
| 95% SCCs due to high-risk HPV (16,18,31,33,45), 40-70% adenocarcinomas due to HPV 18, CIN-1 (10-30% HPV 6&11), CIN-2 (60-80% HPV 16,18,31,33, 1-5% HPV 6&11) |
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Term
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Definition
| test with southern blot for band pattern (probe with J-probe), test with PCR, rule out polyclonal response to H pylori |
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Term
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Definition
| Bcl-2 (18) translocated to heavy chain, t(14;18) |
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Term
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Definition
| c-myc (8) translocated to IgH (4)/ IgLk (20)/ IgLl (22) |
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Term
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Definition
| test for gamma-chain gene rearrangements, use PCR to test clonality |
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Term
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Definition
| translocation of c-abl (9q34) with BCR (22q11) is Philadelphia chromosome, test with FISH and RT-Q-PCR of BCR/abl mRNA |
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Term
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Definition
| mutations in GATA-1 more common, causes megakaryocytic malignancy |
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Term
| Acute Intermittent Porphyria |
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Definition
| defect of porphobilinogen deaminase, accumulation of porphobilinogen/d-ALA, treat with sugar and synthetic heme (hemin) |
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Term
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Definition
| defect of uroporphyrinogen decarboxylase, accumulation of uroporphyrin, 90% related to HCV/alcohol/hereditary hemachromotosis/liver disease |
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Term
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Definition
| 5 P's- painful abdomen, pink urine, polyneuropathy, psychological disturbance, precipitated by drugs |
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Term
| Hereditary hemochromatosis |
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Definition
| defect of hepcidin, bronze diabetes/diastolic heart failure/micronodular cirrhosis/arthropathy of iron in joints/erectile dysfunction, men affected earlier, treat with phlebotomy |
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Term
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Definition
| heme contains Fe3+, can't bind O2, blood turns blue color, treated with methylene blue |
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Term
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Definition
| heme (red/purple), becomes bilverdin IXa (green), becomes bilirubin IXa (yellow) |
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Term
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Definition
| too much bilirubin to conjugate, accumulates in tissues |
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Term
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Definition
| decreased bilirubin conjugation, accumulates in tissues |
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Term
| Dihydropyramidine dehydrogenase (DPD) deficiency |
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Definition
| 10% of population, unable to metabolize pyrimidine metabolites, causes fatal reaction with 5-FU therapy |
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Term
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Definition
| DNA synthesis in blone marrow is disrupted, due to B12/folate deficiency, hypersegmented neutorphils, angular chelitis |
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Term
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Definition
| autoantibodies to parietal cells, no intrinsic factor made to help absorb B12, more common in women/elderly, associated with autoimmune thyroiditis/vitiligo/adrenal |
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Term
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Definition
| due to gastric resection or bypass/vegan diet/bacterial small bowel blind loop/ileal damage/diphyllobothrium latum, neurologic sequelae |
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Term
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Definition
| due to increased utilization/hemolytic anemia/exfoliative dermatitis/pregnancy and infancy |
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Term
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Definition
| due to Pb&Zn/hereditary d-ALA synthase deficiency (X-linked)/isoniazid/EtOH/Cu&pyridoxine deficiency |
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Term
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Definition
| due to polycythemia vera/cigarettes/psychological stress/COPD/high altitudes/hemoglobinopathy |
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Term
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Definition
| 6 Glu-Val mutation in B hemoglobin chain, severity of disease due to decreased HbA, intra-erythrocytie deoxyHbS polymerization, sickling causes vaso-occlusion, decreased RBC survival (15-25 days), aplastic crisis with B19 parvovirus, a-thalassemia/HbF reduce symptoms, Hb heterozygosity/B-thalassemia increase clinical severity |
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Term
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Definition
| fever, pain, leukocytosis, pulmonary HTN/infiltrate |
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Term
| Vaso-occlusion of sickle cell disease |
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Definition
| occlusion causes hypoxemia/necrosis/pain, usually in bone/abdomen/extremities/back, infarction of cerebrovasculature (stroke), autosplenectomy by 6-8 years |
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Term
| Clinical findings of sickle cell |
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Definition
| leg ulcers/smelly infections, dactylitis from infarcts in bones, most severe 6-18mo when HbF declines, less severe after 6yr when peripheral hematopoiesis decreases |
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Term
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Definition
| more common in africans/asians, silent carrier 3a, minor 2a, HbH 1a, hydrops fetalis 0a |
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Term
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Definition
| double heterozygotes for a-thal1 and a-thal2, significant unstable B4 proportion, Hb barts (g4) in infants/neonates, variable hemolytic anemia, golf-ball RBCs with supra-vital stain |
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Term
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Definition
| homozygous for a-thal1 (no a-chains), die in-utero/hours after birth, massive extramedullary hematopoiesis, sever anemia causes CHF/massive body edema, looks similar to Rh- hemolytic disease |
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Term
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Definition
| borderline anemia (hct-35%), severe microcytosis (MCV-60fL), incrased RBCs, increased HbA2, genetic counseling if partner has B+/Bo, normal Fe/TIBC/ferritin |
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Term
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Definition
| 100% HbF, dependent on RBC transfusions, become symptomatic at 6mo, increased Fe uptake, failure to thrive, splenomegaly, extramedullary erythropoiesis, Fe overloads from multiple transfusions, mortality from iron damage to pancreas/liver/myocardium/adrenals, increased risk of diabetes/cirrhosis/CHF/adrenal insufficiency/no puberty, need early iron chelation, splenectomy to decrease hemolysis, folic acid suplements, allogeneic BMT if possible |
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Term
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Definition
| homozygous B+, bone deformities from extramedullary hematopoiesis, iron overload after transfusions, leg ulcers |
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Term
| Clinical findings of hemolytic anemia |
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Definition
| jaundice/scleral icterus/pallor/fatigue/weakness/headache/fever/chills/orange or red urine/splenomegaly |
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Term
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Definition
| spectrin deficiency, defect in RBC membrane is less deformable, lose fragments when subjected to shear forces during splenic sequestration, low MCV, splenomegaly/marrow erythroid hyperplasia/reticulocytosis/cholelithiasis, splenectomize to correct anemia |
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Term
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Definition
| X-linked, RBCs injured by oxidants, heinz bodies of denatured globins, precipates cause intravascular hemolysis, bite-cells from splenic macrophages, due to drugs/infections/fava beans/acidosis |
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Term
| Paroxysmal Nocturnal Hemoglobinuria (PNH) |
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Definition
| acquired membrane defect secondary to mutation of myeloid stem cells, associated with abnormal complement, occurs during primary bone marrow failure, acute intravascular hemolysis, thrombosis and infection due to platelet/granulocyte defects, deficiency of PIG, detect with flow cytometry for CD59, supportive therapy with allogeneic stem cell transplant |
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Term
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Definition
| antibodies or complement against normal/abnormal RBC membrane, inducible by drugs/exogenous agents/transfusions, must determine temperature dependence of activity of antibody |
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Term
| Hemolytic disease of fetus and newborn |
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Definition
| IgG crosses placenta and causes hemolysis |
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Term
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Definition
| median age mid-60s, asymptomatic macrocytic anemia |
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Term
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Definition
| almost any systemic infection, bacterial/viral/ricketts/parasites |
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Term
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Definition
| increased Hgb (Men Hgb>20, women Hgb>18), must be explained, EPO usually elevated due to low O2 tension, often due to CO of smoking, testosterone and altitude-induced, obstructive sleep apnea induces EPO/Hgb during night hypoxia |
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Term
| Physiological Neutrophilia |
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Definition
| due to heat/acute anorexia/exercise/seizures/epinephrine/pain/nausea/vomiting/anxiety/labor |
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Term
| Pathological neutrophilia |
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Definition
| due to acute infection/inflammation/intoxication/metabolic disorders/malignant neoplasm/hemorrhage/leukemoid reaction (30,000/ul) |
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Term
| Chronic Granulomatous Disease |
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Definition
| decreased oxidative burst, deficiency of phagocyte oxidase, cytoplasmic (AR) and membrane (X-linked) forms |
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Term
| Myeloperoxidase Deficiency |
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Definition
| defect MPO-H2O2, decreased microbial killing |
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Term
| Leukocyte Adhesion Deficiency type 1 |
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Definition
| mutation in B chain of CD11/CD18, |
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Term
| Leukocyte Adhesion Deficiency type 2 |
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Definition
| mutation of fucosyl transferase (no sialyl-lewis X synthesis) |
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Term
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Definition
| decreased leukocyte function, mutation in lysosomal membrane traffic |
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Term
| Hyperimmunoglobulin E Syndrome |
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Definition
| decreased Tcell IFN-g, abnormal chemotaxis, increased susceptibility to staphylococcal infections |
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Term
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Definition
| due to aplastic anemia/bone marrow toxins/SLE/marrow infiltrates/chemo/radiation/congenital disorders/hypersplenism/immune destruction |
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Term
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Definition
| due to parasites/allergies/dermatitis/CML/drug reactions/ hypereosinophilic syndrome/chronic myeloproliferation |
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Term
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Definition
| due to acute severe infection/glucocorticoids/epinephrine/prostaglandins |
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Term
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Definition
| due to CML/allergies/hypothyroidism/chronic renal failure/radiation/splenectomy |
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Term
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Definition
| due to glucocorticoids/acute stress/infection/hyperthyroidism |
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Term
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Definition
| good sign after chemo, due to myelodysplasia, collagen vascular disease (SLE)/infections/sarcoidosis/Gaucher's disease/CCl4 poisoning |
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Term
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Definition
| due to aplastic anemia/glucocorticoids/hairy cell leukemia |
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Term
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Definition
| due to acute bacteria (pertuss, brucellosis)/viral (measles, mums, rubella, roseola)/infectious mononucleosis (CMV, EBV)/chronic infections (TB, syphilis, fungus)/ALL/CLL/drug reactions/hepatitis |
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Term
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Definition
| due to congenital immunodeficiency/AIDS/glucocorticoids/chemo/radiation/infiltrative malignancies |
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