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Biochem/Immuno/Path
First Aid outline of Biochem/Immuno/Path
187
Biochemistry
Graduate
04/10/2013

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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
acetyl CoA carboxylase
Term
rate limiting enzyme for: Beta-oxidation of FA
Definition
carnitine acyltransferase
Term
rate limiting enzyme for:
Definition
HMC CoA Synthase
Term
rate limiting enzyme for: choelsterol synthesis
Definition
HMC CoA Reductase
Term
rate limiting enzyme for: bile acid synthesis
Definition
7-alpha-hydroxylase
Term
rate limiting enzyme for: heme synthesis
Definition
aminolevulinate synthase
Term
rate limiting enzyme for: glycolysis
Definition
phosphofructokinase
Term
rate limiting enzyme for: gluconeogenesis
Definition
fructose-1,6-bisphosphate
Term
rate limiting enzyme for: TCA cycle
Definition
isocitrate dehydrogenase
Term
rate limiting enzyme for: glycogen synthesis
Definition
glycogen synthetase
Term
rate limiting enzyme for: glycogenolysis
Definition
glycogen phosphorylase
Term
Enzyme deficiency/defect associated with: Uropporphyrinogen decarboxylase
Definition
porphyria cutanea tarda
Term
Enzyme deficiency/defect associated with: alpha-galactosidase A
Definition
Fabry's disease
Term
Enzyme deficiency/defect associated with: Glucocerebrosidase
Definition
Gaucher's disease
Term
Enzyme deficiency/defect associated with: Sphingomyelinase
Definition
Niemann-Pick Disease
Term
Enzyme deficiency/defect associated with: Hexosaminidase A
Definition
Tay-Sach's disease
Term
Enzyme deficiency/defect associated with: Galactocerebrosidase
Definition
Krabbe's disease
Term
Enzyme deficiency/defect associated with: Arylsulfatase A
Definition
Meachromatic leukodystrophy
Term
Enzyme deficiency/defect associated with: alpha-L iduronidase (complete)
Definition
Hurler's syndrome
Term
Enzyme deficiency/defect associated with: alpha-L iduronidase (partial)
Definition
Schie's syndrome
Term
Enzyme deficiency/defect associated with: Iduronate sultase
Definition
Hunter's syndrome
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
Cori's diease (type III)
Term
Enzyme deficiency/defect associated with: Skeletal muscle glycogen phophorylase
Definition
McArdles diease (Type V)
Term
Enzyme deficiency/defect associated with: Cystathione synthase deficiency
Definition
Homocystinuria
Term
Enzyme deficiency/defect associated with: Homocysteine methyltransferase deficiency
Definition
Homocystinuria
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
Cystinuria
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
Hartnup disease
Term
Enzyme deficiency/defect associated with: Decrease phenylalanine hydroxylase
Definition
Phenylketonuria
Term
Enzyme deficiency/defect associated with: decrease tetrahydrobiopterin cofactor
Definition
Phenylketonuria
Term
Enzyme deficiency/defect associated with: Congenital deficiency of homogentistic acid oxidase
Definition
Alkaptonuria (ochronsis)
Term
Deficiency of either: tyrosinase or tyrosine transporters
Definition
Albinism
Term
defect in fructokinase
Definition
Essential fructosuria
Term
Deficiency in aldolase B
Definition
Fructose intolerance
Term
Deficiecny of galactokinase
Definition
Galactokinase deficiency
Term
Absence of galactose-1-phosphate uridyltransferase
Definition
Classic galactosemia
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
William's syndrome
Term
22q11 deletion syndromes
Definition
DiGeorge syndrome, Velocardiofacial syndrome
Term
Microdeletion of short arm of Ch5
Definition
Cri-du-chat syndrome
Term
Trisomy 21
Definition
Down syndrome
Term
Trisomy 18
Definition
Edward's syndrome
Term
Trisomy 13
Definition
Patau's syndrome
Term
Trinucleotide repeat of CGG
Definition
Fragile X sydrome
Term
Trinucleotide repeat of GAA
Definition
Friedreich's ataxia
Term
Trinucleotide repeat of CAG
Definition
Huntington's disease
Term
Trinucleotide repeat of CTG
Definition
Myotonic dystrophy
Term
AR defect in CFTR on Ch7, deletion of Phe508
Definition
Cystic fibrosis
Term
Fibrilin gene mutation
Definition
Marfan's syndrome
Term
NF2 gene on chromosome 22
Definition
Neurofibromatosis type 2
Term
Gene defect in type IV collagen
Definition
Alport Syndrome
Term
a1-antitrypsin deficiency
Definition
Emphysema or cirrhosis
Term
Defect in type I collagen
Definition
Osteogenesis Imperfecta
Term
Defect in type III collagen
Definition
Ehlers Danlos Type IV (Vascular)
Term
Mutation in Tenascin-X
Definition
Ehlers Danlos Type III (hypermobility)
Term
Defect in Type VII collagen
Definition
Epidermolysis Bullosa Dystrophica
Term
mutation in a copper-binding ATPase
Definition
Menkes’ syndrome
Term
defect in laminin 5 or laminin 6
Definition
Junctional Epidermolysis Bullosa
Term
defect in laminin 2
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
MCH Class I deficiecny
Term
Failure of MCH Class II expression, defects in transcription factors
Definition
MCH Class II deficiency
Term
Deficiency in C1-INH
Definition
Hereditary angioedema
Term
Deficiency in MAC complex
Definition
Recurrent meningococcal and gonococcal infections
Term
Adenosine deaminase deficiency
Definition
SCID
Term
Defects in ATM genes
Definition
Ataxia-telangiectasia
Term
Defect in LYST (lysosomal regulator trafficking)
Definition
Chediak-Higashi syndrome
Term
Triad: eczema, recurrent "cold" staph aureus abscess, coarse facial features
Definition
Job syndrome
Term
Inherited lysosomal storage disorder: failure of addition of mannose-6-phosphate to lysosome proteins
Definition
I cell disease
Term
Autoantibody: antinuclear antibodies (ANA)
Definition
SLE, nonspecific
Term
Autoantibody: Anti-ds-DNA, anti-Smith
Definition
SLE
Term
Autoantibody: antihistone
Definition
drug-induced lupus
Term
Autoantibody: Anti-IgG (rheumatoid factor)
Definition
Rheumatoid arthritis
Term
Autoantibody: Anticenromere
Definition
Scleroderma (CREST)
Term
Autoantibody: Anti-Scl-70 (anti-DNA topoisomerase I)
Definition
Scleroderma (diffuse)
Term
Autoantibody: Antimitochondrial
Definition
Primary billiary cirrhosis
Term
Autoantibody: Antigliadin, antiendomysial
Definition
Celiac disease (glutten insensitivity)
Term
Autoantibody: Anti-basement membrane
Definition
Goodpasture's syndrome
Term
Autoantibody: Anti-desmoglin
Definition
Pemphigus vulgaris
Term
Autoantibody: Antimicrosomal, antithyroglobulin
Definition
Hashimoto's thyroiditis
Term
Autoantibody: Anti-Jo-1
Definition
Polymyositis, dermatomyositis
Term
Autoantibody: Anti-SS-A (anti-Rho)
Definition
Sjogren's syndrome
Term
Autoantibody: Anti-SS-B (Anti-La)
Definition
Sjogren's syndrome
Term
Autoantibody: Anti-U1 RNP (ribonucleotide)
Definition
Mixed connective tissue disease
Term
Autoantibody: Anti-smooth muscle
Definition
Autoimmune hepatitis
Term
Autoantibody: Anti-glutamate decarboxylase
Definition
Type I DM
Term
Autoantibody: c-ANCA
Definition
Wegener's granulomatosis
Term
Autoantibody: p-ANCA
Definition
Other vasculititis: microscopic polyangitis, Churg-Strauss syndrome
Term
Autoantibody: Anti-TSH receptors
Definition
Grave's disease
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
CK, LDH, troponin
Term
What are the cellular injury byproducts detected in serum for: skeletal muscle
Definition
CK, aldolase, LDH
Term
What are the cellular injury byproducts detected in serum for: hepatocytes
Definition
AST, ALT, alk phos, GGT
Term
What are the cellular injury byproducts detected in serum for: salivary amylase
Definition
Amylase
Term
What are the cellular injury byproducts detected in serum for: pancreatic exocrine cells
Definition
Amylase, lipase
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
Reversible
Term
Anaplasia, neoplasia and desmoplasia are reversible or irreversible?
Definition
Irreversible
Term
Does the "sarcoma" ending implicate benign or malignancy?
Definition
Malignancy
Term
Neoplasm associated w/ the following condition: Down syndrome
Definition
ALL, AML (M7)
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
Gastric adenocarcinoma
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
SCC of the skin
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
SCC of the esophagus
Term
Neoplasm associated w/ the following condition: Cirrhosis (alcoholic, Hep B or C)
Definition
Hepatocellular carcinoma
Term
Neoplasm associated w/ the following condition: Ulcerative colitis (as well as Crohn's disease)
Definition
Coloninc adenocarcinoma
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
Malignant lymphomas
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
Lymphoma
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
Malignant lymphoma
Term
Neoplasm associated w/ the following condition: Radiation exposure
Definition
Papillary thyroid cancer, breast, leukemia
Term
Neoplasm associated w/ the following condition: Achalasia
Definition
SCC of the esohagus
Term
Neoplasm associated w/ the following condition: Sjogren's syndrome
Definition
B cell lymphoma
Term
Neoplasm associated w/ the following condition: Ataxia-telangicetasia
Definition
Telangiectasia, leukemias, lymphomas
Term
Associated tumor w/ oncogene: abl
Definition
CML
Term
Associated tumor w/ oncogene: c-myc
Definition
Burkitt's lymphoma
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
Breast cancer
Term
Associated tumor w/ tumor suppressor gene: p16
Definition
Melanoma
Term
Associated tumor w/ tumor suppressor gene: APC
Definition
Colorectal cancer (associated w/ FAP)
Term
Associated tumor w/ tumor suppressor gene: WT1
Definition
Wilm's tumor
Term
Associated tumor w/ tumor suppressor gene: NF1
Definition
Neurofibromatosis type 1
Term
Associated tumor w/ tumor suppressor gene: NF2
Definition
Neurofibromatosis type 2
Term
Associated tumor w/ tumor suppressor gene: DPC
Definition
Pancreatic cancer
Term
Associated tumor w/ tumor suppressor gene: DCC
Definition
Colon cancer
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
Prostate carcinoma
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
Hepatocellular carcinoma
Term
Associated tumor w/ chemical carcinogen: Vinyl chloride
Definition
Angiosarcoma
Term
Associated tumor w/ chemical carcinogen: CCl4
Definition
Centrilobular nerosis, fatty change
Term
Associated tumor w/ chemical carcinogen: Nitrosamines (smoked foods)
Definition
Gastric cancer
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
Leukemia
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
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