- marasmus (wasting syndrome): skin lesions, fatty liver, acute protein-energy malnutrition
with decreased arm circumference, weight per length or bmi
2. Deformation: disruption in organ morphogenesis occurring after embryonic period;
extrinsic force limits normal organ development
3. Vascular changes in chronic htn: - hyaline arteriolosclerosis: protein deposition in
vessel walls
- Hyperplastic arteriosclerosis (arteriolitis): concentric thickening of vessel wall w/ laminar
appearance caused by proliferation of smooth muscle cells
- mutation in macrophage colony stimulating factor
13. Achondroplasia: human dwarfism
- ad mutation in fibroblast growth factor receptor 3 (fgfr3) gene
14. Porphyria cutanea tarda: severe cutaneous photosensitivity with blistering &
hyperpigmentation after exposure to sunlight
- decreased activity of uroporphyringoen decarboxylase enzyme in the production of heme
15. Cd8+ t lymphocytes: responsible for clearing a virus
- Class i mhc receptors present a virus to cd8+ t cell on an apc
, 3
- Cd8+ t cell has a specific tcr for the virus; responds by secreting inflammatory mediators (to
attract other cells) perforin/granzyme or interacting with fas/fasl to trigger apoptosis
16. Class ii mhc: are on the surface of antigen-presenting cells (apcs), including b cells
- trigger cd4+ t cells, which recruit cd8+ cytotoxic t cells
17. Pku: deficiency of phenylalanine hydroxylase
- supplementation of tyrosine is required for synthesis of catecholamines (norepinephrine,
epinephrine & dopamine)
18. Leuprolide: gnrh agonist used for the treatment of prostate cancer
- decreased lh & testosterone release
19. Production of progesterone during pregnancy: - first 7-10 weeks: corpus luteum
(stimulating by hcg from placenta)
- recurrent infections with catalase (+) organisms: s. Aureus, aspergillus & nocardia
21. Mpo deficiency: recurrent candida infections
22. Wiskott-aldrich syndrome: mutation in was gene; abnormal cytoskeleton of b & t cells
- eczema, recurrent respiratory infections, thrombocytopenia
23. Chediak-higashi syndrome: mutation in lyst (lysosomal trafficking gene regulator) which
causes accumulation of large cytoplasmic granules that cannot fuse with lysosomes
- Increase of bacterial, viral, and fungal infections
- Albinism, photophobia, silver hair
24. Coccidioidomycosis: fungal infection endemic to southwest us & california
- respiratory illness, fever, fatigue, cough, arthralgia
25. Lambert-eaton myasthenic syndrome (lems): auto-immune; antibodies formed against
voltage gated ca2+ channels at nmj; impaired presynaptic ach release
- Sx: skeletal muscle weakness in limbs (improves w/ activity)
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