Term
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Definition
lysosomal storage disease
alpha-l-iduronidase defect, affects nervous system |
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Definition
lysosomal storage disease
hexosaminadase A defect, affects skeletal and nervous systems |
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Definition
lysosomal storage disease
heparan sulfate sulfamidase defect,affects skeletal and nervous systems |
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Term
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Definition
lysosomal storage disease
beta-o-glycosidase defect, affects liver and spleen |
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Term
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Definition
lysosomal storage disease
phosphotransferase defect, affects skeleton and nervous system |
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Term
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Definition
immobile cilia disorder from disorganized microtubles and MAPs. affects respiratory cilia- allows buildup of accumulated secretions
also may cause sterility |
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Term
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Definition
| drug that binds MTs and prevents polymerization, used in gout tx to prevent tissue deposits |
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Term
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Definition
| binds MTs and inhibits mitotic spindle formation, used in cancer therapy |
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Term
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Definition
| drug used in breast cancer treatment to stabilize MTs and prevent depolymerization- arrests cell division |
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Term
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Definition
| binds (+) end actin polymers, inhibits lymphocyte migration, phagocytosis and cell division |
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Term
| Phalloidin/other mushroom toxins |
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Definition
binds/stabilizes actin filaments to prevent depolymerization
use w/ flourescein dyes to stain actin filaments in lab
prolonged exposure may disrupt F/G actin equilibrium= cell death |
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Term
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Definition
| produces neurofibrillary triangles containing neurofilaments and MAPs- defect in proper assembly of IFs |
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Term
| Alcoholic liver cirrhosis |
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Definition
| Mallory bodies in liver resulting from eosinophilic intracytoplasmic inclusions comprised of keratin IFs |
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Term
| Primary ciliary dyskinesia (immotile cilia syndrome) |
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Definition
| group of autosomal recessive hereditary disorders, includes Kartagener's syndrome and Young's syndrome |
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Term
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Definition
malfunction of radial spokes and dynein arms of cilia making it immotile. Results in chronic respiratory distress, otitis media and persistent cough/asthma
may cause infertility in males from defects of sperm and ductus deferens, but females w/ disease can still be fertile |
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Term
| Polycystic kidney disease |
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Definition
| inability to open calcium channels, cysts build up |
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Term
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Definition
| Internal organs on wrong sides of body- from cilia rotating in counterclockwise direction instead of clockwise in embryo |
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Term
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Definition
| fluid accumulation on brain from immotile cilia |
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Term
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Definition
bacteria that causes food poisoning
binds claudins of junctional complexes and prevents binding there, have a leak
diarrhea/dehydration results from fluid moving into intestinal lumen |
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Term
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Definition
House mite feces can break down zonula occludens junctions if inhaled
results in impaired respiratory epithelium and exposure to allergens, asthma attacks |
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Term
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Definition
bacteria that may cause gastric ulcers/carcinomas
binds extracellular domains of zonula occludens junctions and disrupts barrier |
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Term
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Definition
may use junction adhesion molecules to cause infant enteritis
attachment/endocytosis results in apoptosis of cells |
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Term
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Definition
chromosomal analysis used to dx genetic disorders
extract whole, living chromosome and hybridize w/ fluorescent probes (FISH) |
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Term
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Definition
Type I collagen defect
repeated fractures after trauma, brittle bones, abnormal teeth, thick skin, weak tendons, blue sclerae and progressive hearing loss |
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Term
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Definition
Type II collagen disorder
short stature, decreased joint mobility, ocular changes leading to blindness, wide metaphyses and joint abnormalities on x-ray |
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Term
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Definition
Type III collagen disorder
hypermobility of digit joints, pale think skin, bruise easily, early morbidity/mortality from blood vessel/organ rupture |
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Term
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Definition
Type IV collagen disorder
hematauria from structural changes in glomerular basement membrane of kidneys, progressive hearing loss and ocular lesions |
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Term
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Definition
type IV collagen disorder
no anchoring fibrils- severe blistering and scarring of skin after trauma |
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Term
| Multiple epiphysial dysplasia (MED) |
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Definition
type IX collagen disorder
skeletal deformities from impaired endochondral ossification and premature degenerative joint disease |
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Term
| Schnid metaphyseal chondrodysplasia |
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Definition
Type X collagen disorder
skeletal deformities from modifications of vertebral bodies/metaphyses of long bones |
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Term
| Strickler's syndrome type II |
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Definition
Type XI collagen disorder
craniofacial skeletal deformities, severe, myopia, retinal detachments and hearing loss |
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Term
| Gen. atrophic benign epidermolysis bullosa (GABEB) |
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Definition
type XII collagen disorder
blistering skin disease with dermal/epidermal separation from faulty hemidesmosomes, skin/nail atrophy and alopecia |
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Term
| Fibrillin microfilaments and sun exposure |
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Definition
MFs undergo extensive remodeling after extensive sun exposure
fibers become sparse/truncated, have aberrant nonfunctional elastic fibers
results in decreased skin elasticity and deep wrinkles |
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Term
| Degenerative joint disease |
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Definition
chronic joint pain, especially in weight-bearing joints. Deformity of joints and destruction of articular cartilage, decreased water and proteoglycan content
creates new articular surface on bone itself- pain and joint fusion, decreased mobility |
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Term
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Definition
| joint inflammation, varying degrees of disability and pain |
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Term
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Definition
| calcification of articular cartilage, leads to decreased range of motion |
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Term
| Rheumatoid arthritis/tuberculosis |
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Definition
| immune responses/infectious diseases damage cartilage. may be helped w/ joint replacement |
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Term
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Definition
| buildup of acid crystals in joints- very painful and decreases range of motion. may often be a side effect of HTN meds |
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Term
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Definition
| Calcium deficiency in bone during growth so matrix doesn't calcify normally. From insufficient calcium or vitamin D, adult form is called osteomalacia |
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Term
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Definition
osteoclast activity > osteoblast activity, bone is diminished
increases levels of cytokines and enhanced osteoclast activity from decreased estrogen make this common in postmenopausal women |
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Term
| Vitamin A deficiency/toxicity |
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Definition
deficiency: suppresses endochondral ossification
toxicity: fragility and fractures of long bones |
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Term
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Definition
| scurvy- production of uncalcifiable collagen. Seen in sailors......arrrgh |
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