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55 Cards in this Set
- Front
- Back
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I cell disease
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laking mannose-6-phosphate tag so lysosomal enzymes are secreted from the cell instead, inclusion bodies
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Pelger-Huet anomaly
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lamin (an IF,nuclus structure) disorder resulting in hyposegmentation of wbcs
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zellweger syndrome
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inability to import newly proteins across peroxisomal membranes, peroxisomal enzymes in cytoplasm are destroyed, myelin syn is affected (plasmalogens/phospholips do not participate)
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von gierke disease
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hepatorenalmagaly, deficiency of G-6-phsophatase to convert glycogen to glucose
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Krabbe (crab a) disease
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galactocerebrosidase deficiency, GALC needed for myelin syn, changing muscle tone, blind, deaf
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stain positive for ubiquitin
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ubiquitin (protein recylcing to proteasome) aggregates of proteins=amyloids; neurofibrillary tangles in alzheimers, lewy bodies in parkinson's, mallory bodies in alcoholic liver cirrhosis
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Alexander disease
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accumulation of cyto inclusions in astrocytes containing GFAP IFs, inclusions called Rosenthal fibers (glial cells); cell breakdown; psychomotor retardation
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atrophy
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cell shrink due to increase catabolism of organelles; increase in lipofuscin; housekeeping genes not affected
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familial hypercholesterolemia
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autosomal dominate, mutation encoding LDL receptors, lose affinity for coated pits so uptake of cholesterol blocked; MI, stroke, midlife death
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MERRF
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myoclonic epilepse with ragged red fibers; point mutation in mito DNA gene encoding for lysine; definicent in oxi phos chain; neurons and m cells affected
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marker enzyme
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used to detect cell injury and activity; 1)creatine kinease MB-isoenzyme increases in acute MI or myocarditis 2)anylase and lipase-acute pancreatitis, lipase more specific 3)amylase-also increase in parotid inflam (mumps_
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Epithelial dysplasia
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in response to persistant injury or mutation, regresses unless cancer, increase in nucleus size, abnormal cell arrangement, hyperplastic squamous
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carcinoma
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from epi cells; in-situ=malignant changes but no invasion thru BM, named by appearance, origin, or organ of development
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primary ciliary dyskinesia
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autosomal recessive; immotile cilia;1) Kartagener's- no dynein arms; respiratory infections, male sterility, situs inversus 2) Young's- no radial spokes, resp infection, situs inversus
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polycystic kidnesy diease
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9+0 cilia; 4th cause of kidney fail; defect in sesnory cilia of collecting ducts; urine bends cilium to open Ca channel-signal transduction pathway to regulate cell cycle; expanding cysts
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Bardet-Biedl Syndrome
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hereogeneous; defects in basal bodies/cilia; signaling pathways do not function; congenital impairment, blind, trunk obesity, cystic kidney, polydactyly, situs inversus, heart
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pleural mesothelioma
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tumors from parietal and visceral serous membranes; exposure to asbestos, latency period
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jnct complexes by bacteria
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target proteins of ZO; enterotoxin of clostridium perfringens binds claudins to form pore; H. pylori binds to junctional adhesion mlc at ZO and redistributes occludin/JAM/ZO-1 to lose polarization
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jnct complexes by viruses/parasites
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target proteins of ZO; Hep C bind claudin so virus internalizes and causes liver cirrhosis; retrovirus bind JAM to internalize virus, children; parasites have serine protease to destroy occludin and ZO-1, vulnerable to allergens
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congenital deafness and cataracts
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mutations in connexin genes; Cx26-deafness (K circulation in cochlear sensory epi); Cx46/Cx50- inherited cataracts (waste from avascular lens); Cx32- X-linked Charcot Marie Tooth Disease, peripheral neuropathy
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bullous pemphigoid (blistering disease)
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autoimmune; Ab against hemidesmosomes, degradation; presence of IgG against BP320; treat w/corticosteriods and immunosuppressives
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Adenocarcinoma
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carcinoma in glandular tissue; cells don't have to appear glandular but do have to have secretory prop; colorectal cancer
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Dupuytren disease
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palma fibromatosis; thickened aponeurosis, too much collagen by myofibroblasts
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osteogenesis imperfecta
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collagen 1 defect; blue sclera-choroidal veins
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marfan syndrome
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defect in FBN1 gene encoding for fibrillin-1 (involving elastic fibers); arachnodactly, tall wing span, painted by Greco, heart attack-valves; affects the eye because xonula fibers suspending the lens
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ehlers-danlos IV
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collagen 3, hypermobility, bv rupture (type 1 ehlers danlos-skin hyperextensibility)
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alport syndrome
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collagen 4, kidney glomerular BM, hematuria is common/earlier manifestation
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hurler syndrome
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increase in two GAGs dermatan sulfate or heparan sulfate; genetic disorder (LSD); deficiency of enzyme iduronidase; dermatan important in CT of skin, bv, heart; heparin important in BL; hepatosplenomagaly, dwarfism, gargoylism
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lipoma
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adipose tissue tumor; tissue of back, thorax, proximal limbs
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keloids
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overgrowth of dense CT after wound healing; more collagen produced; myofibroblasts play role
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multiple myeloma
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sheets of malignant plasma cells (dyscrasia) in bone marrow aspirate; IgM spike; degrades bone marrow of cortical bone
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anaphylaxis
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allergic rxn; degran of mast cells; bronchiole sm contracts; skin edema-hives
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malignant fibrous histiocytoma
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soft tissue tumor; sarcomas-CT or mesenchyme precursors; cells present-fibroblasts, myofibroblasts, macrophages, mesenchymal
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osteomalacia
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lack of calcium or vit D, thick osteoid, bones don't harden, impaired mineralization, adult rickets
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osteoporosis
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bone resorbed by OC, thin trabeculae (spongy bone); imbalance in OB/OC; decreased bone deposition (from PTH); less estrogen increases cytokines and stim OC
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osteopetrosis
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dense trabeculae (thick bone), ruffled border of OC affected; alcohol and estradiol-thin bones; deficiency of capthepsin K (degrade collagen, elastin)/ carbonic anhydrase II, increase bone density
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rickets
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lack of vit D/Ca, body takes Ca and PO4 from bones, bowed legs, big joints
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paget's disease
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uncontrolled OC
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somatotropin/GH1 and IGF1 on cart/bone
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stimulate cartilage and bone formation; chondrocytes in epiphyseal growht plates regulated by IGF-1 (produced by liver in response to GH); oversecretion-gigantism; absence-pituitary dwarfism; oversecretion adult-acromegaly
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osteogenic sarcoma
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malignant OBs, woven bone, increase in alkaline phos; mutation in retinoblastoma gene; knee; radiographic sunburst
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herniated disc
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dehydration of nucleus pulposis or ann. fibrosus; loss of fibrocartilage integrity
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gigantism
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oversecretion of GH in childhood
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osteoarthritis (degenerative joint disease)
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articular cartilage, decreased proteoglycan (H2O), chondrocytes produce IL-1 and TNF-alpha (decrease type 2 collagen and increased MMP); matrix and collagen broken down
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marble bone disease/albers-schongberg disease
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deficiency in carbonic anhydrase, OC lose ftn and bone builds up; pH of howships not effect for enzymes
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Rabies
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virus utilizes axonal transport for travel to site of replication and release; bite puts virus into muscle and then binds ACh receptor and carreid by fast retrograde to cell body and CNS; causes encephalitis; salivary glands use anterograde to infect new victim; negri and lyssa bodies (inclusions)
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botulinum toxin
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inhibits ACh release; decreased receptor stimulation; paralysis of muscle and respiratory distress
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parkinson's disease
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progressive neurologic disorder due to loss of dopaminergic neurons; pigment loss, Lewy bodies (NF and alpha-synuclein); increase glial cells; treat: L-Dopa, cholinergic receptor blockets, amantadine, remove overactive brain, electrodes to destroy thalamus
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hydrocephalus
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immotile cilia on ependymal cells; increase pressure, expand skull bones; shunt to remove excess CSF;
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multiple sclerosis
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CNS demyelination; loss of AP transmission; increase in IgG is CSF, abnorm T cell ftn (loss of oligodendrocytes); changes in lipid/protein cmpts (plaques); treat by decreasing immune with interferon, steroids
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peripheral neruopathy
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PNS demyelination; inherited (charcot-marie-tooth disease, motor and sensory)or by trauma (guillain-barre, autoimmune, from vaccine); use electromyogram or nerve conduction study
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amyotrophic lateral sclerosis (Lou Gherig's)
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muscle atrophy; degeneration of motor neurons of stem and spinal cord; hardening due to astrocytic gliosis; may have mutation is gene superoxide dismutase 1 (convert radicals to H2O2 and O2)
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alzheimer's disease
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neurofibrillar tangles (IF); mutations in presenilin 1/2 and b-amyloid precursor protein; amyloid plaques-disrupt Ca-nueron death; hirano bodies; risk factor by APOE locus, can't removie large b-amyloid
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huntington's disease
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degeneration of cholinergic and GABA-ergic neurons due to CAG repeats (aa glutamate); degenerate basal ganglia neurons
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tay-sachs disease
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accumulation of gangliosides in CNS neurons; autosomal recessive; deficiency in hexosaminidase A causes the accum; red spot in retina, delayed motor, flaccid; distension of CNS/PNS nerve cells with lipid droplets
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shingles
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inflammation of nerves by herpres zoster; reemergence of chicken pox; skin lesions along dermatome (unilateral of single spinal nerve)
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