Trouble Areas Flashcards
Name the typical appearance of: Histoplasmosis Blastomycosis Coccidioidiomycosis Paracoccidioidomycosis.
Histo: Ovoid cells within macrophages; Blasto: broad based budding (RBC size); Coccidio: spherule filled with endosomes; Paracrypto: budding yeast w/ captain’s wheel formation (larger than RBC)
What are the Neural Crest Cell derivatives in the: Nervous synstem Bones/skin Endocrine system Heart
Nervous: Pia, Arachnoid, PNS (dorsal root ganglia, cranial nerves, autonomic ganglia, Schwann cells)
Bones/Skin: Skull bones, Odontoblasts, Melanocytes
Endocrine: Chromaffin cells of adrenal medulla, Parafollicular cells of thyroid (C cells)
Heart: Endocardial cushion, Aorticopulmonary septum
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Fabry disease
F: Alpha-galactosidase–>ceramide trihexoside (XR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Gaucher disease
G: Glucocerebrosidase –> glucocerebroside (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Niemann-Pich disease
NP: Sphingomyelinase –> sphingomyelin (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Tay-Sachs disease
TS: Hexosaminidase A –> GM2 ganglioside (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Krabbe disease
K: Galactocerebrosidase –>galactocerebroside, psychosine (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Metachromatic Leukodystrophy
ML: Arylsulfatase A –> cerebroside sulfate (sulfatides) (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hurler syndrome
Hurl: Alpha-L-iduronidase –> heparan sulfate, dermatan sulfate (AR)
Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hunter syndrome
Hunt: Iduronate sulfatase –> heparan sulfate, dermatan sulfate (XR)
How many oncogenes must be mutated to cause cancer? (Dominant/recessive?) When an oncogene is mutated, does the cell gain or lose fxn? How does this affect cancer risk? Does overexpression or underexpression lead to cancer?
Only 1 must be lost (dominant mutation) to cause a gain of fxn mutation that increases cancer risk.
Bottomline: A mutation of an oncogene results in increased activity of the gene (overexpression) that leads to too much protein/product that enhances growth, resulting in neoplasia.
How many tumor suppressor genes must be lost to cause cancer? When a tumor suppressor gene is mutated, does the cell gain or lose fxn? How does this affect cancer risk? Does overexpression or underexpression lead to cancer?
2 tumor suppressor genes must be lost (recessive mutation) to cause loss of fxn mutation that increases cancer risk.
Bottomline: A mutation of a tumor suppressor gene results in decreased activity of the gene (underexpression) that leads to a deficiency in protein/product that inhibits growth, resulting in neoplasia.
Gene: ALK
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; receptor tyrosine kinase; lung adenocarcinoma
Gene: BCR-ABL
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; CML, ALL
Gene: BCL-2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; antiapoptotic molecule; follicular and diffuse large B cell lymphoma
Gene: BRAF
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; serine/threonine kinase; melanoma, non-Hodgkin lymphoma
Gene: c-KIT
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; cytokine receptor; gastrointestinal stromal tumor (GIST)
Gene: c-MYC
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Burkitt lymphoma
Gene: HER2/neu (c-erbB2)
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; breast and gastric carcinomas
Gene: JAK2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; chronic myeloproliferative disorders
Gene: KRAS
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; GTPase; colon, lung, pancreatic cancer
Gene: MYCL1
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Lung tumor (notice L in MYCL1)
Gene: MYCN
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; transcription factor; Neuroblastoma (notice N in MYCN)
Gene: RET
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?
Oncogene; tyrosine kinase; MEN 2A and 2B, medullary thyroid cancer
Gene: BRCA1/BRCA2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; DNA repair protein; Breast and ovarian cancer
Gene: CDKN2A
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; p16 (blocks G1–>S phase); Melanoma, pancreatic cancer
Gene: DCC
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; DCC (deleted in colon cancer); Colon cancer
Gene: DPC4/SMAD4
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; DPC (deleted in pancreatic cancer); pancreatic cancer
Gene: MEN1
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Menin; MEN1 (11q) (pituitary tumor, pancreatic endocrine tumor [Zollinger ellison, insulinoma, VIPoma, glucagonoma], parathyroid adenomas) - aka Werner syndrome
Gene: NF1
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Ras GTPase activating protein (neurofibromin); Neurofibromatosis type 1
Gene: NF2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Merlin (schwannomin) protein; Neurofibromatosis type 2
Gene: PTEN
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; no gene product; Breast cancer, prostate cancer, endometrial cancer
Gene: Rb
Is it an oncogene/tumor suppressor?
What is its fxn?
What is the associated neoplasm/condition?
Tumor suppressor; Inhibits E2F - blocks G1 –> S phase; Retinoblastoma, osteosarcoma
Gene: TP53
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; p53: activates p21 –>blocks G1 –> S phase
Gene: TSC1
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Hamartin protein; Tuberous sclerosis
Gene: TSC2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Tuberin protein; Tuberous sclerosis
Gene: VHL
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; Inhibits hypoxia inducible factor 1a; von Hippel-Lindau disease, renal cell carcinoma
Gene: WT1/WT2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; no gene product; Wilms Tumor (nephroblastoma)
Gene: APC
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm/condition?
Tumor suppressor; no gene product; Colorectal cancer (associated w/ FAP)
Which G-protein linked 2nd messengers are Gq, Gs, and Gi linked? Describe how each fxns.
Gq: Cutesies (QCs) HAVe 1 M&M; H1, alpha 1, V1, M1, M3
Gq stims. PLC, PLC cleaves lipids to PIP3, PIP3 cleaved to DAG and IP3, DAG activates PKC, IP3 increases calcium
Gs: B1 - 3, D1, H2, V2
Gs upregs adenylyl cyclase, makes cAMP from ATP, cAMP activates PKA, PKA elevates calcium (heart) and inhibits MLCK (SM)
Gi: MAD 2’s: M2, alpha 2, D2
Gi inhibits adenylyl cyclase
OD Rx: Amphetamines (basic)
NH4Cl (ammonium chloride - acidify urine)
OD Rx: Antimuscarinic/anticholinergics
Phsostigmine, control hyperthermia
OD Rx: Arsenic
Dimercaperol, succimer (dimercaprolsuccinic acid)
OD Rx: ß-blockers
Saline, atropine, glucagon
OD Rx: Copper (also Wilson’s disease)
Penicillamine (chelating agent), trientine (copper chalating agent for chronic hepatopathies like Wilson’s)
OD Rx: Cyanide
Nitrate + thiosulfate (infusion of sodium nitrite produces cyanmetHb, followed by infusion of thiosulfate to produce thiocyanate, which is excreted.), hydroxycobalamin
OD Rx: Gold (myochrisine)
Penicillinamine, dimercaprol (BAL), succimer
OD Rx: Heparin
Protamine sulfate (binds heparin ionically)
OD Rx: Iron
Deferoxamine, deferasirox, deferiprone
OD Rx: Lead
EDTA, dimercaprol, succimer, penicillamine
OD Rx: Mercury
Dimercaprol, succimer
OD Rx: Methanol, ethylene glycol
Fomeprizole > ethanol, dialysis
OD Rx: Methemoglobin
Methylene blue, vitamin C
OD Rx: Salicylates
NaHCO3 (alkalinize urine), dialysis
OD Rx: TCAs
NaHCO3 (sodium replacement)
OD Rx: Warfarin
Fresh frozen plasma (immediately), Vitamin K (delayed effect)
Drugs that cause agranulocytosis
CCPMCG - Can Cause Pretty Major Collapse of Granulocytes
Clozapine, Carbamazepine, Propylthiouracil, Methimazole, Colchicine, Ganciclovir
Drugs causing aplastic anemia
CMNBCP - Can’t Make New Blood Cells Properly
Carbamazepine, Methimazole, NSAIDs, Benzene, Chloramphenicol, Propylthiouracil