Block 1 - Diseases And Drugs

Front 1

Congenital Nephrogenic Diabetes Insipidus (CNDI)

Back 1

Aquaporin-2 (AQP2) channel does not reach apical surface of renal tubule, preventing reabsorption of water and causes excessive urine volume.

Front 2

Drug: Sulfonylurea-based

Back 2

Blocking of K(ATP) channels in pancreatic beta cells, stimulating insulin secretion

Front 3

Neonatal Congenital Hyperinsulinemia (PHHI)

Back 3

Nonfunctional K(ATP) channel causes excessive insulin, low glucose, and may eventually lead to diabetic coma.

Front 4

Malignant Hyperthermia (MH)

Back 4

Mutation of RyR receptor in skeletal muscle causes activation of receptor without an action potential during general anaesthetic state. Causes sustained muscle contraction leading to glycogen degradation, rhabdomyolysis, and proteolysis.

Front 5

Drug: Ventalin

Back 5

Treats asthma by affecting beta adrenergic agonist, triggering cAMP pathway. This results in smooth muscle relaxation.

Front 6

Toxin: Cholera

Back 6

Triggers adenylyl cyclase in cAMP mechanism, which leads to secretion of Cl- and K+ into the lumen of the small intestine. Osmotic pressure pushes water with ions, leading to diarrhea and rapid dehydration.

Front 7

Chronic Myeloid Leukemia (CML)

Back 7

Non-receptor cytosolic TRK (tyrosine receptor kinase) is constitutively activated. This causes uncontrolled cell proliferation of white blood cells.

Treated with TRK inhibitor.

Front 8

Muscular Dystrophy

Back 8

Genetic actin and calcium abnormalities. This leads to progressive muscle wasting.

Front 9

Severe/Uncontrolled Asthma

Back 9

Stimulation of airways leads to hypertrophy and hyperplasia of airway smooth muscle. This leads to increase contractility and narrowing of the airway lumen, as well as inflammation and increased mucous production.

Front 10

Toxin: Tetrodotoxin

Back 10

Blockage of voltage-gated sodium channels in pre-synaptic nerve, preventing neurotransmitter release. Causes paralysis.

Front 11

Toxin: Botulinum (botox)

Back 11

Prevents ACh secretion, causing flaccid paralysis because vesicles can't fuse to the membrane

Front 12

Toxin: Organophosphate

Back 12

Inhibition of AChE (enzyme that breaks down ACh), causing ACh to remain in the synaptic cleft instead of being deactivated.

Front 13

Myasthenia Gravis

Back 13

Autoimmune disease that causes antibodies to block nicotinic ACh receptors in the NMJ. This prevents nerve impulses from triggering muscle contractions, causing paralysis.

Front 14

Pilocytic Astrocytoma (PA)

Back 14

Brain tumour development due to BRAF point mutation at point 1799.

Front 15

Rheumatoid Arthritis

Back 15

Long term auto-immune disease. Inflammation from disease can cause thermoregulation dysfunction.

Front 16

SIADH (Syndrome of Inappropriate ADH Secretion)

Back 16

Continued ADH secretion despite increased plasma volume and decreased plasma osmolality. Causes hyponatremia (low K), reduced urine output, increased urine osmolality, and continued renal Na+ secretion.

Front 17

Amyloidosis

Back 17

Protein misfolding results in fibrillars (extracellular deposits) in brain or during chronic inflammation. Shows up with Congo red staining as fine non-branching fibrils, intercalated between folds of beta sheets.

Front 18

Cystic Fibrosis

Back 18

Misfolding of CTFR due to a mutation in F508, preventing Cl from being moved out of respiratory cell and causing buildup in airways and decreasing osmotic pressure through cell.

Front 19

Scurvy

Back 19

Vitamin C (ascorbate) deficiency preventing HyP and HyL synthesis (hydroxylation of collagen), causing collagen denaturation into gelatin.

Front 20

Prion Disease

Back 20

Protein permeates neuronal cells and induces structural changes by causing natural proteins to misfold into beta sheets.

Front 21

Scrapie

Back 21

Prion disease that causes a conformational change of PrPc into PrPsc (scrapie), leading to increase beta sheet formation.

Front 22

Cri-Du-Chat Syndrome

Back 22

Deletion on Chromosome #5 causes morphological changes. Baby cry sounds like a cat meow.

Front 23

Williams-Beuren Syndrome

Back 23

Deletion on Chromosome #7 causes Gestalt face morphology as well as SVAS (supravalvular aortic stenosis) as well as ELN (elastin) mutation.

Front 24

Down syndrome

Back 24

Trisomy 21; 3 copies of 231 genes. 50% do not survive birth.

Front 25

Patau Syndrome

Back 25

Trisomy 13; 99% results in miscarriage, if not, polydactyly among other symptoms.

Front 26

Goitre

Back 26

Iodine deficiency

Front 27

Addison's Disease

Back 27

Inability of adrenal glands to release cortisol causes ACTH to increase above normal levels. ACTH stimulates melanocytes and causes them to induce pigmentation.

Front 28

Fibrous Dysplasia

Back 28

Seen with cafe au lait spots (white discolouration) and endocrinopathy that results in precocious puberty, hyperthyroidism, excess growth hormones, and excess cortisol.

Front 29

McCune Albright Syndrome

Back 29

Non-inheritable genetic condition affecting bone, skin, and endocrine tissue. It is caused by a post-zygotic mutation in gene for stimulatory G-protein alpha. Causes constitutive activation of hormone receptors.

Front 30

Acromegaly

Back 30

Adenocarcinoma on the anterior pituitary tbc