Term
| rate limiting enzyme for: urea cycle |
|
Definition
| carbomyl phosphate synthetase I |
|
|
Term
| rate limiting enzyme for: hexose monophosphate pathway |
|
Definition
| glucose6-phsophate dehydrogenase |
|
|
Term
| rate limiting enzyme for: fatty acid synthesisi |
|
Definition
|
|
Term
| rate limiting enzyme for: Beta-oxidation of FA |
|
Definition
| carnitine acyltransferase |
|
|
Term
| rate limiting enzyme for: |
|
Definition
|
|
Term
| rate limiting enzyme for: choelsterol synthesis |
|
Definition
|
|
Term
| rate limiting enzyme for: bile acid synthesis |
|
Definition
|
|
Term
| rate limiting enzyme for: heme synthesis |
|
Definition
|
|
Term
| rate limiting enzyme for: glycolysis |
|
Definition
|
|
Term
| rate limiting enzyme for: gluconeogenesis |
|
Definition
| fructose-1,6-bisphosphate |
|
|
Term
| rate limiting enzyme for: TCA cycle |
|
Definition
|
|
Term
| rate limiting enzyme for: glycogen synthesis |
|
Definition
|
|
Term
| rate limiting enzyme for: glycogenolysis |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Uropporphyrinogen decarboxylase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: alpha-galactosidase A |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Glucocerebrosidase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Sphingomyelinase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Hexosaminidase A |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Galactocerebrosidase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Arylsulfatase A |
|
Definition
| Meachromatic leukodystrophy |
|
|
Term
| Enzyme deficiency/defect associated with: alpha-L iduronidase (complete) |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: alpha-L iduronidase (partial) |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Iduronate sultase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Glucose-6-phosphatase |
|
Definition
| Von Gierke's disease (type I) |
|
|
Term
| Enzyme deficiency/defect associated with: Lysosomal alpha-1,4-glucosidase |
|
Definition
| Pompe's disease (Type II) |
|
|
Term
| Enzyme deficiency/defect associated with: Debranching enzyme (a-1,6, glucosidase) |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Skeletal muscle glycogen phophorylase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Cystathione synthase deficiency |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Homocysteine methyltransferase deficiency |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Hereditary defect of renal tubular amino acid transporter for cystein, orinthien, lysine and arginince int eh PCT of the kidneys |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Blocked degradation of branched amino acids (Ile, Leu, Val) due to dec a-ketoacid dehydrogenase |
|
Definition
| Maple syrup urine diesease |
|
|
Term
| Enzyme deficiency/defect associated with: Defective neutral amino acid transporter on reanl and intestinal epithelial cells |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Decrease phenylalanine hydroxylase |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: decrease tetrahydrobiopterin cofactor |
|
Definition
|
|
Term
| Enzyme deficiency/defect associated with: Congenital deficiency of homogentistic acid oxidase |
|
Definition
|
|
Term
| Deficiency of either: tyrosinase or tyrosine transporters |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Deficiecny of galactokinase |
|
Definition
|
|
Term
| Absence of galactose-1-phosphate uridyltransferase |
|
Definition
|
|
Term
| NADPH oxidase deficiecncy |
|
Definition
| Chronic granulomatous disease |
|
|
Term
| Pyruvate dehydrogenase deficiency |
|
Definition
| Causes backup of substrate (pyruvate and alanine), resulting in lactic acidosis. Can be congenital or acquired (as in alcoholics due to B1 deficiency) |
|
|
Term
| Microdeletion of Ch 7 (including ELN (elastin) gene) |
|
Definition
|
|
Term
|
Definition
| DiGeorge syndrome, Velocardiofacial syndrome |
|
|
Term
| Microdeletion of short arm of Ch5 |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Trinucleotide repeat of CGG |
|
Definition
|
|
Term
| Trinucleotide repeat of GAA |
|
Definition
|
|
Term
| Trinucleotide repeat of CAG |
|
Definition
|
|
Term
| Trinucleotide repeat of CTG |
|
Definition
|
|
Term
| AR defect in CFTR on Ch7, deletion of Phe508 |
|
Definition
|
|
Term
|
Definition
|
|
Term
| NF2 gene on chromosome 22 |
|
Definition
|
|
Term
| Gene defect in type IV collagen |
|
Definition
|
|
Term
| a1-antitrypsin deficiency |
|
Definition
|
|
Term
| Defect in type I collagen |
|
Definition
|
|
Term
| Defect in type III collagen |
|
Definition
| Ehlers Danlos Type IV (Vascular) |
|
|
Term
|
Definition
| Ehlers Danlos Type III (hypermobility) |
|
|
Term
| Defect in Type VII collagen |
|
Definition
| Epidermolysis Bullosa Dystrophica |
|
|
Term
| mutation in a copper-binding ATPase |
|
Definition
|
|
Term
| defect in laminin 5 or laminin 6 |
|
Definition
| Junctional Epidermolysis Bullosa |
|
|
Term
|
Definition
| Congenital Muscular Dystrophy |
|
|
Term
| Deficiency of CD40L on activated T cells |
|
Definition
| X-linked hyper-IgM syndrome |
|
|
Term
| Deficiency of a tyrosinase kinase that blocks B cell maturation |
|
Definition
| Bruton X-linked ypo-gamma globulinemia |
|
|
Term
| Absence of CD18 (common beta chain of integrins) |
|
Definition
| leukocyte qdhesion deficiency |
|
|
Term
| Failure of TAP 1 molecules to transport peptides to ER |
|
Definition
|
|
Term
| Failure of MCH Class II expression, defects in transcription factors |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Deficiency in MAC complex |
|
Definition
| Recurrent meningococcal and gonococcal infections |
|
|
Term
| Adenosine deaminase deficiency |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Defect in LYST (lysosomal regulator trafficking) |
|
Definition
|
|
Term
| Triad: eczema, recurrent "cold" staph aureus abscess, coarse facial features |
|
Definition
|
|
Term
| Inherited lysosomal storage disorder: failure of addition of mannose-6-phosphate to lysosome proteins |
|
Definition
|
|
Term
| Autoantibody: antinuclear antibodies (ANA) |
|
Definition
|
|
Term
| Autoantibody: Anti-ds-DNA, anti-Smith |
|
Definition
|
|
Term
| Autoantibody: antihistone |
|
Definition
|
|
Term
| Autoantibody: Anti-IgG (rheumatoid factor) |
|
Definition
|
|
Term
| Autoantibody: Anticenromere |
|
Definition
|
|
Term
| Autoantibody: Anti-Scl-70 (anti-DNA topoisomerase I) |
|
Definition
|
|
Term
| Autoantibody: Antimitochondrial |
|
Definition
| Primary billiary cirrhosis |
|
|
Term
| Autoantibody: Antigliadin, antiendomysial |
|
Definition
| Celiac disease (glutten insensitivity) |
|
|
Term
| Autoantibody: Anti-basement membrane |
|
Definition
|
|
Term
| Autoantibody: Anti-desmoglin |
|
Definition
|
|
Term
| Autoantibody: Antimicrosomal, antithyroglobulin |
|
Definition
|
|
Term
|
Definition
| Polymyositis, dermatomyositis |
|
|
Term
| Autoantibody: Anti-SS-A (anti-Rho) |
|
Definition
|
|
Term
| Autoantibody: Anti-SS-B (Anti-La) |
|
Definition
|
|
Term
| Autoantibody: Anti-U1 RNP (ribonucleotide) |
|
Definition
| Mixed connective tissue disease |
|
|
Term
| Autoantibody: Anti-smooth muscle |
|
Definition
|
|
Term
| Autoantibody: Anti-glutamate decarboxylase |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Other vasculititis: microscopic polyangitis, Churg-Strauss syndrome |
|
|
Term
| Autoantibody: Anti-TSH receptors |
|
Definition
|
|
Term
| Transplant rejection: Hyperacute rejection |
|
Definition
| Occurs w/in minutes. Type II hypersensitivity reaction due to the presence of PREFORMED ANTI-DONOR antibodies in the transplant recipient. Features: occludes graft vessels, causing ischemia and necrosis. The grft tissue NEVER becomes vascularized |
|
|
Term
| Transplant rejection: Acute |
|
Definition
| Occurs weeks later b/c of Cell mediated immunity due to CTLs reacting against FOREIGN MCHs. Reversible w/ immunosuppressants (e.g. cyclosporine, OKT4). Features: vasculitis of graft vessels w/ dense interstitial lymphocytic infiltrate |
|
|
Term
| Transplant rejection: Chronic |
|
Definition
| Occurs months to years. Class I-MCh (non-self) is perceived by CTLs as class I-MHC (self) presenting a non-self antigen. Feature: Irreversible. T cell and Ab-mediated vascular damage (obliterative vascular fibrosis); fibrosis of graft tissue and blod vessels. Features: maculopapular rash. Liver damage: jaundice, increaed levels of AST, ALT, Alk phosphoate, bilirubin. GI: diarhea, intestinal bleeding, abdominal cramping, and or ileus. in severe cases will get desquamation. |
|
|
Term
| Transplant rejection: Graft versus host disease |
|
Definition
| Onset varies; usually occurs w/in 1 week of transplant. Grafted immunocompetent T cells proliferate in the irradiated immunocompromised disease host and reject cells w/ "foreign" proteins, resulting in severe organ dysfunction. The Grafted T cells become sensitized against the host MCH antigens. |
|
|
Term
| What are the characteristics of apoptosis? |
|
Definition
| Cell shrinkage, nuclear shirnkage and basophilia (pyknosis), membrane blebbing, nuclear fragmentation (karyorrhexis), nuclear fading (karyolysis), and formation of apoptotic bodies (get phagocytosed) |
|
|
Term
| What are the characteristics of irreversible cell injury? |
|
Definition
| Calcium influx which leads to caspase activation, damage to plasma membrane, rupture of the lysosome, mitochondria permeability increases, pyknosis (nuclear shrinking w/ basophilia), karyolysis (nuclear fading) or karyorrhexis (nuclear fragmentation) of the nucles |
|
|
Term
| What are the neutrophil chemotactic factors? |
|
Definition
| C5a, IL-8, LTB4, kallikrein |
|
|
Term
| How do leukocytes roll and then bind to the endothelium? |
|
Definition
| Rolling is due to upregulation of both E (endothelial) and P (platelet) selectin on the endothelial cell and then Sialyl Lewis X on the leukocyte binds to the selection. Binding to the endothelial cells is mediated by LFA-1 (integrin) binding to ICAM-1 on the endothelial cell. pg 247 first aid. |
|
|
Term
| What are the cellular injury byproducts detected in serum for: cardiac myocytes |
|
Definition
|
|
Term
| What are the cellular injury byproducts detected in serum for: skeletal muscle |
|
Definition
|
|
Term
| What are the cellular injury byproducts detected in serum for: hepatocytes |
|
Definition
|
|
Term
| What are the cellular injury byproducts detected in serum for: salivary amylase |
|
Definition
|
|
Term
| What are the cellular injury byproducts detected in serum for: pancreatic exocrine cells |
|
Definition
|
|
Term
| What are the cellular injury byproducts detected in serum for: RBCS |
|
Definition
| LDH, haptoglobin, bilirubin |
|
|
Term
| What induces and maintains granuloma formation in granulomatous diseases? |
|
Definition
| Th1 cells secrete IFN-g --> activate Macrophages. TNF-a secreted from macrophages. Anti-TNF-alpha drugs can breadk dowon granulomas, leading to disseminated disease. |
|
|
Term
| Hyperplasia, metaplasia, dysplasia are reversible or irreversible? |
|
Definition
|
|
Term
| Anaplasia, neoplasia and desmoplasia are reversible or irreversible? |
|
Definition
|
|
Term
| Does the "sarcoma" ending implicate benign or malignancy? |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Down syndrome |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Xeroderma pigmentosum, albinism |
|
Definition
| Melanoma, BCC and especially SCC of the skin |
|
|
Term
| Neoplasm associated w/ the following condition: chronin atrophic gastritis, pernicious anemia, postsurgical gastric remnants |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Tuberous sclerosis (facial angiofibroma, seizures, mental retardation, ash-leaf spots) |
|
Definition
| Astrocytoma, angiomyolipoma and cardiac rhabdomyoma |
|
|
Term
| Neoplasm associated w/ the following condition: Actinic keratosis |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Barrett's esophagus (chornic GI reflux) |
|
Definition
| Esophageal adenocarcinoma |
|
|
Term
| Neoplasm associated w/ the following condition: Plummer vinson syndrome (atrophic glossitis, esophageal webs, anemia; all due to iron deficiency) |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Cirrhosis (alcoholic, Hep B or C) |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Ulcerative colitis (as well as Crohn's disease) |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Paget's disease of the bone |
|
Definition
| Secondary osteosarcoma and fibrosarcoma |
|
|
Term
| Neoplasm associated w/ the following condition: Immunodeficiency states |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: AIDS |
|
Definition
| Aggressive malignant lymphomas (non-Hodgkin's) and KS |
|
|
Term
| Neoplasm associated w/ the following condition: Autoimmune diseases (e.g. Hashimoto's thyroiditis, myasthenia gravis) |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Acanthosis nigrans (hyperpigmentation and epidermal thickening) |
|
Definition
| Visceral malignancy (stomach, lung, uterus) |
|
|
Term
| Neoplasm associated w/ the following condition: Dysplastic nevus |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Radiation exposure |
|
Definition
| Papillary thyroid cancer, breast, leukemia |
|
|
Term
| Neoplasm associated w/ the following condition: Achalasia |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Sjogren's syndrome |
|
Definition
|
|
Term
| Neoplasm associated w/ the following condition: Ataxia-telangicetasia |
|
Definition
| Telangiectasia, leukemias, lymphomas |
|
|
Term
| Associated tumor w/ oncogene: abl |
|
Definition
|
|
Term
| Associated tumor w/ oncogene: c-myc |
|
Definition
|
|
Term
| Associated tumor w/ oncogene:bcl-2 |
|
Definition
| Follicular and undifferentiated lymphomas (inhibits apoptosis) |
|
|
Term
| Associated tumor w/ oncogene: erb-B2 |
|
Definition
| Breast, ovarian, and gastric carcinomas |
|
|
Term
| Associated tumor w/ oncogene: ras |
|
Definition
| Most common oncogene mutated. Colon carcinoma |
|
|
Term
| Associated tumor w/ oncogene: L-myc |
|
Definition
| Lung tumor (Small cell lung cancer) |
|
|
Term
| Associated tumor w/ oncogene: N-myc |
|
Definition
| Neuroblastoma (adrenal tumor w/ Homer wright pseudorosettes) |
|
|
Term
| Associated tumor w/ oncogene: ret |
|
Definition
| Papillary thyroid carcinoma in association w/ MEN IIa/IIb |
|
|
Term
| Associated tumor w/ oncogene: c-kit |
|
Definition
| Gastrointestinal stroma tumors (GIST) |
|
|
Term
| Associated tumor w/ tumor suppressor gene: Rb |
|
Definition
| Retinoblastoma, osteosarcoma |
|
|
Term
| Associated tumor w/ tumor suppressor gene: p53 |
|
Definition
| Most huma cancers, Li Fraumeni syndrome |
|
|
Term
| Associated tumor w/ tumor suppressor gene:BRCA-1 |
|
Definition
| Breast and ovarian cancer |
|
|
Term
| Associated tumor w/ tumor suppressor gene: BRCA-2 |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: p16 |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: APC |
|
Definition
| Colorectal cancer (associated w/ FAP) |
|
|
Term
| Associated tumor w/ tumor suppressor gene: WT1 |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: NF1 |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: NF2 |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: DPC |
|
Definition
|
|
Term
| Associated tumor w/ tumor suppressor gene: DCC |
|
Definition
|
|
Term
| HIGH YIELD Tumor markers: PSA |
|
Definition
| Prostate-specific Ag. Use to screen for prostate carcinoma. Can also be elevated in BPH and prostatitis |
|
|
Term
| HIGH YIELD Tumor markers: Prostatic acid phoshpatase |
|
Definition
|
|
Term
| HIGH YIELD Tumor markers: CEA |
|
Definition
| Carcinoembryoninc antigen. Non-specific, but made by 70% of colorectal and pancreatic cancers; also made by gastric, breast, and thyroid medullary carcinomas |
|
|
Term
| HIGH YIELD Tumor markers: alpha-fetoprotein |
|
Definition
| Normally made by the fetuas. Hepatocellular carcinomas. Nonseminomatous germ cell tumors of the testis (e.g. yok sac tumor) |
|
|
Term
| HIGH YIELD Tumor markers: Beta-hCG |
|
Definition
| Hydatidiform moles, choriocarcinomas, and gestational trophoblastic tumors |
|
|
Term
| HIGH YIELD Tumor markers: CA-125 |
|
Definition
| Ovarian, malignant epithelial tumors |
|
|
Term
| HIGH YIELD Tumor markers: S-100 |
|
Definition
| Melanoma, neural tumors, schwannomas |
|
|
Term
| HIGH YIELD Tumor markers: Alkaline phosphatase |
|
Definition
| Metastases to bone, obstructive bilary disease, Paget's disease of bone |
|
|
Term
| HIGH YIELD Tumor markers: Bombesin |
|
Definition
| Adrenal neuroblastoma, lung and gastric cancer |
|
|
Term
| HIGH YIELD Tumor markers: TRAP |
|
Definition
| Tartrate-resistant acid phosphatase. Hairy cell leukemia (B cell neoplasm) |
|
|
Term
| HIGH YIELD Tumor markers: CA-19-9 |
|
Definition
| Pancreatic adenocarcinoma |
|
|
Term
| HIGH YIELD Tumor markers: Calcitonin |
|
Definition
| Thyroid medullary carcinoma |
|
|
Term
| Associated tumor w/ chemical carcinogen: aflatoxins (Aspergillus) |
|
Definition
|
|
Term
| Associated tumor w/ chemical carcinogen: Vinyl chloride |
|
Definition
|
|
Term
| Associated tumor w/ chemical carcinogen: CCl4 |
|
Definition
| Centrilobular nerosis, fatty change |
|
|
Term
| Associated tumor w/ chemical carcinogen: Nitrosamines (smoked foods) |
|
Definition
|
|
Term
| Associated tumor w/ chemical carcinogen: Cigarette smoking |
|
Definition
| SCC of the larynx, SCC and small cell carcinoma of the lung, Renal cell carcinoma, Transitional cell carcinoma (bladder) |
|
|
Term
| Associated tumor w/ chemical carcinogen: Asbestos |
|
Definition
| Mesothelioma and bronchogenic carcinoma |
|
|
Term
| Associated tumor w/ chemical carcinogen: Arsenic |
|
Definition
| SCC of the skin, angiosarcoma in the liver |
|
|
Term
| Associated tumor w/ chemical carcinogen: Naphthalene (aniline) dyes |
|
Definition
| Transitional cell carcinoma (bladder) |
|
|
Term
| Associated tumor w/ chemical carcinogen: Alkylating agents |
|
Definition
|
|
Term
| What is the paraneoplastic effect associated ACTH or ACTH-like peptide? What is the effect? |
|
Definition
| Small cell lung carcinoma; Cushing's syndrome |
|
|
Term
| What is the paraneoplastic effect associated w/ ADH? What is the effect? |
|
Definition
| Small cell lung carcinoma and intracranial neoplasms; SIADH (hyponatremia and decreased serum osmolarity) |
|
|
Term
| What is the paraneoplastic effect associated w/ Erythropoietin? What is the effect? |
|
Definition
| Renal call carcinoma, heamgioblastoma, hepatocellular carcinoma, pheochromocytoma; Polycythemia |
|
|
Term
| What is the paraneoplastic effect associated w/ PTH-related peptide, TGF-Beta, TNF, IL-1? What is the effect? |
|
Definition
| Squamous cell lung carcinoma, renal cell carcinoma, breast cancer and MM; hypercalcemia |
|
|
Term
| What is the paraneoplastic effect associated w/ Abs against presynaptic Ca channels at NMJ? What is the effect? |
|
Definition
| Thymoma, small cell lung carcinoma; Lambert-Eaton syndrome (muscle weakness that improves w/ use) |
|
|
Term
| What is the paraneoplastic effect associated w/ Hyperuricemia due to excess nucleic acid turnons (ie.e, cytotoxic therapy)? What is the effect? |
|
Definition
| Leukemias and lymphomas; Gout, urate nephropathy |
|
|
Term
| What are psammoma bodies and where are they found? |
|
Definition
| They're laminated, concentric, calcific spherules that look like "rings on a tree." Found in: papillary adenocarcinoma of thyroid, serous papillary cystadenocarcinoma of ovary, meningioma, malignant mesothelioma |
|
|
Term
| What diseases are associated w/ DNA repair enzymes? |
|
Definition
| HNPCC, Xeroderma pigmentosum and Ataxia-Telangiectasia |
|
|
Term
| Know these: what are the #1-3 incidence of cancer in men and women? |
|
Definition
| Men: 1. prostate, 2. lung, 3. colon/rectum. Women: 1. breast, 2. lung, 2 colon/rectum, 4. uterus |
|
|
Term
| Know these: what are the #1-4 mortality due to cancer in men and women? |
|
Definition
| Men: 1. Lung, 2. prostate, 3. colon.4. pancreatic Women: 1. Lung, 2. breast, 3. colon, 4 pancreatic. |
|
|
Term
| What are the most common primary tumors to metastasize to the brain in order? |
|
Definition
| Lung > breast > kidney (renal cell carcinoma) > Skin (melanoma) |
|
|
Term
| What are the most common primary tumors to metastasize to the liver in order? |
|
Definition
| Colon > stomach > pancreas, breast, lung |
|
|
Term
| What are the most common primary tumors to metastasize to the bone in order? |
|
Definition
| Prostate, breast > lung > thryoid, testes |
|
|
