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27 Cards in this Set

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Autosomal Dominant Disorders

Gilbert's disease, Osteogenesis imperfecta, Treacher collins syndrome, Tuberous sclerosis, Hereditary haemorrhagic telangiectasia, Hereditary elliptocytosis, Hereditary spherocytosis, Huntington's disease, Achondroplasia, Antithrombin III deficiency, Marfan's syndrome, Marble bone disease, Von willebrand disease, Idiopathic hypoparathyroidism, Neurofibromatosis, C1 esterase inhibitor deficiency, Ehlers-danlos syndrome, Peutz-jegher's syndrome, Polycystic kidney disease (adult), Protein C deficiency, Intestinal polyposis

GOT2H4A2M2 VINCE P3I

Autosomal Recessive Disorders

Phenylketonuria, Cystic fibrosis, Sickle cell disease, Homocystinuria, Albinism (oculocutaneous), Alkaptonuria, Galactosaemia, Gaucher's disease, Glycogen storage disease, Wilson's disease, Endemic goitrous cretinism, Bartter's syndrome, Xeroderma pigmentosum.

PC SHA2G3 WEB X

X-Linked Dominant Disorders

Von Willebrand's disease, X-linked hypophosphataemic Rickets

VWX Rickets

X-linked Recessive Disorders

Becker's muscular dystrophy, Hunter's syndrome, Testicular feminisation syndrome, Fabry's disease, red-green Colour blindness, G6PDD, Wiskcott-aldrich syndrome, Haemophilia A & B, Duchenne's Muscular Dystrophy

BeckHun Test Fab Colour Glue Whisk & Haem Douche

Restriction Enzymes

Hind III & EcoRI

Eco Helicopter

Blotting

NoRthern = RNA


Southern D = DNA


Western = protein

R


D


Pro-west

Genomic Imprinting Disorders

Beckwith-wiedemann syndrome, Angelman syndrome, prader Willi syndrome, myotonic dystrophy

Beckwith Angel Willy & Dystrophy

Mitochondrial Disorders

Kearn Sayre's, Leber's optic atrophy, MELAS, Progressive external ophthalmoplegia, MERRF



MELAS = Mitochondirial Myopathy, Encephalopathy, Lactic Acidosis, Stroke



MERRF = Myoclonic Epilepsy with Ragged Red Fibres

KS LoaM PeoM

Oncogenes

Ras (sporadic tumours, rhabdomyosarcomas)


C-myc (Burkitt's lymphoma)


N-myc (Neuroblastoma)


SRC (Sarcoma)


Fas ligands, Caspases = apoptosis


Bax, Bad, Bak = cell death


Bcl-2 = inhibits apoptosis by p53

Rasism like rabies is everywhere


See Mike Burke? No, Mike Neuro.


S_RC_ _ _


Fast Capsizes


B = Bad


BLoCk cell death


Tumour Suppression Genes

NF-1 (Neurofibromatosis)


BRCA-1 (Breast/Ovarian Ca)


Rb (Retinoblastoma)


VHL (von Hippel Lindau)


p53

NB RsVP

Enzyme Deficiencies

Gaucher's disease (Gluco-cerebro-cidase deficiency)


Tay Sachs Disease (Hexos-aminidase A deficency)


Niemann Pick Disease (Sphingo-myelinase deficiency)


Metachromatic Leukodystrophy (Aryl-sulphatase deficiency)


Hurler's syndrome (Iduronidase deficiency)

Gluco gauch


Sax Hex


Pick Spin Go


Metachrome Aryl


Hurler's ID

Causes of Retinitis Pigmentosa

Lawrence Moon Biedl syndrome, Friedrich's ataxia, Usher's disease, Refsum's disease, Kearn Sayre's syndrome, Alport's syndrome

LaMB FURKSA

G Protein Receptors

FSH, Adrenergic receptor, Retinal rhodopsin receptor, TSH, Muscarinic ACh receptor, ACTH, GABA receptors

FART MAG

Diseases with G Protein Second Messenger Abnormalities

McCune Albright syndrome, Pituitary Adenoma, Cholera, Albright's Hereditary Osteodystrophy

MA PA CAH

TK Receptors

VEGF


IGF-1


Insulin


PDGF


Epidermal Growth Factor


Macrophage colony stimulating factor

VI2PE MCSF

X-linked Immunodeficiency

SCID - severe combined immunodeficiency


Bruton's hypogammaglobulinaemia

X Brute Skid

Prion Diseases

CKD, Kuru, Scrapie (BSE)

KiCK & Scrape

Drugs with Zero Order Kinetics

Fluoxetine


Alcohol


Phenytoin

FAP

Liver Enzyme Inducers

Carbamazepine, Rifampicin, Alcohol, Phenytoin, Barbiturates, Sulphonylureas

CRAP BS

Liver Enzyme Inhibitors

Omeprazole, Amiodarone, Allopurinol, Ketoconazole, Disulfuram, Erythromycin, Valproate, Isoniazid, Ciprofloxacin, Cimetidine, Ethanol, Sulphonamides

OA2K DEVIC2ES

Drugs that cause Lupus

Chlorpromazine, Hydralazine, Isoniazide, Procainamide, Penicillamine, Sulfasalazine, Methyldopa, Quinidine

CHIP2S MQ

Drugs that cause Gynaecomastia

Nifedipine, Oestrogens, Digoxin, Spironolactone, Cimetidine, Verapamil

NODS CV

Drugs that cause Galactorrhoea

Metoclopramide, OCPs, Bromocriptine, Phenothiazines (Chlorpropramide, Thioridazine)

MOB P(CT)

Drugs that cause SIADH

Phenothiazines, SSRIs, Cyclophosphamide, Chlorpropramide, Carbamazepine, Clofibrate, Thiazides, TCAs, Vincristine, Vinblastine

PS C4T2V2

Drugs that cause Hypercalcaemia

Progesterone, Alkaline antacids, DES, Lithium, Estrogens, Thiazides

PADLET

Drugs that cause Anticholinergic Syndrome

TCAs, antihistamines, atropine

Causes of Methaemoglobinaemia

Prilocaine, Antimalarials, Nitrates (including food), Dapsone, Aniline dyes, Sulphonamides

PAN2DAS