Trouble Areas Flashcards by Andrei Lojek

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)

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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

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Fabry disease

F: Alpha-galactosidase–>ceramide trihexoside (XR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Gaucher disease

G: Glucocerebrosidase –> glucocerebroside (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Niemann-Pich disease

NP: Sphingomyelinase –> sphingomyelin (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Tay-Sachs disease

TS: Hexosaminidase A –> GM2 ganglioside (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Krabbe disease

K: Galactocerebrosidase –>galactocerebroside, psychosine (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Metachromatic Leukodystrophy

ML: Arylsulfatase A –> cerebroside sulfate (sulfatides) (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hurler syndrome

Hurl: Alpha-L-iduronidase –> heparan sulfate, dermatan sulfate (AR)

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Name the deficient enzyme/accum. substrate/inheritance pattern in:
Hunter syndrome

Hunt: Iduronate sulfatase –> heparan sulfate, dermatan sulfate (XR)

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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.

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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.

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Gene: ALK
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?

Oncogene; receptor tyrosine kinase; lung adenocarcinoma

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Gene: BCR-ABL
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?

Oncogene; tyrosine kinase; CML, ALL

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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

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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

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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)

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Gene: c-MYC
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?

Oncogene; transcription factor; Burkitt lymphoma

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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

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Gene: JAK2
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?

Oncogene; tyrosine kinase; chronic myeloproliferative disorders

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Gene: KRAS
Is it an oncogene/tumor suppressor?
What is its gene product?
What is the associated neoplasm?

Oncogene; GTPase; colon, lung, pancreatic cancer

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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)

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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)

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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