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57 Cards in this Set

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  • Back
Kartagener’s syndrome
results from hereditary defects in the ciliary dynein, prohibited from functioning properly, are susceptible to lung infections, immotile sperm for men (sterile), also affect some women’s ciliary beating of egg to uterus
pemphigus vulgaris
autoantibodies that act against desmosomal proteins, disrupts cell adhesion, leading to blistering, controlled with systemic steroids
nonsyndromic deafness and erythrokeratodermia variabilis (skin disorder)
caused by mutations in connexin genes (which is linked to dysfunctional migration of neural crest during development), result in defects in the formation of the pulmonary vessels of the heart
transformation of one epithelial type into another epithelial type
malignant tumors arising from epithelia
malignant tumors arising from glandular epithelial cells, common in older people
released by staphylococcus aureus, enzyme that cleaves hyaluronic acid into small fragments, converts gel state of the ECM to a sol state
elevated growth due to excessive accumulation of collagen during wound healing
deficiency of vitamin C, alpha chains of tropocollagen are unable to form stable helices, first affect CT with high turnover of collagen
Ehlers-Danlos Syndrome
deficiency in lysyl hydroxylase, results in abnormal crosslinks among tropocollagen molecules, results in hypermobile joints and hyperextensive skin
Marfan syndrome
have a defect in the gene on chromosome 15 that codes for fibrillin, elastic fibers do not develop properly, predisposed to fatal rupture of the aorta
leukocyte adhesion deficiency
autosomal recessive disorder, incapable of synthesizing the beta chain of WBC integrins, leukocytes cannot adhere to the endothelium and cannot migrate to sites of inflammation, difficulaty in fighting bacterial disease
wound healing and fibroblasts
fibroblasts may undergo cell division (which they normally don’t) during wound healing, may differentiate into adipose cells, chondrocytes, or osteoblasts
hay fever
suffer from the effects of histamine release, causes localized edema from INC permeability of small blood vessels, makes for feeling of being stuffed up
suffer from difficulty in breathing as a result of bronchospasm caused by leukotrienes released by the lungs
systemic anaphylaxis
a systemic and sever immediate hypersensitivity response to a second dose of an allergen (insect stings, antibiotics), may cause anaphylactic shock
anaphylactic shock
includes shortness of breath and a sudden DEC in blood pressure
accumulation of excess tissue fluid within loose CT, can result from excessive release of histamine and leukotrienes C4 and D4, or obstruction of venous and lymph vessels
hypertrophic obesity
results from the accumulation and storage of fat in unilocular fat cells, may INC their size by as much as 4 fold
hypercellular obesity
results from an overabundance of adipocytes, usually more severe obesity, may be brought on by overfeeding babies, INC there # of adipoctyes
regulates the appetite center of the hypothalamus, if inactive have a voracious appetite
common benign tumors of adipoctyes
are malignant tumors of adipoctyes
levels of cartilage regeneration
poor except in children, if large defect in cartilage, dense CT is used to repair a scar
alkaline phosphatase
rich in osteoblast cell membranes, used in monitoring bone formation since it is released in large amounts during this time
genetic disorder where osteoclasts do not possess a ruffled border, have INC bond density, may result in anemia, blindness and deafness
bone grafts
used when a bone fracture is so sever that the leftover bone cannot form a callus
bone autografts
transplant recipient is donor as well
transplants from different individuals of the same species
grafts from different species
occurs bec. of an excess in somatotropin production, abnormal increase in bone deposition w/o normal bone resorption
decreasing bone mass, more serious after menopause when estrogen secretion drops appreciably
deficiency in vitamin D in infants and children, calcium absorption decreases even with increased levels of uptake, signs of the disease include deformed bo
adult version of rickets, especially prevalent in pregnant women as the fetus has an excess demand for Ca2+ from the mother
deficiency of vitamin C in individuals, may lead to deficiency in collagen production, causing a reduction of bone matrix
rigor mortis
stiffening of the joints after death, may last as long as three days, lack of ATP to bind to S1 subfragment so muscles stay in contracted form
caused by ingestion of improperly preserved canned foods, toxin released by clostridium botulinum interferes with the release of acetylcholine
myasthenia gravis
autoimmune disease in which autoantibodies attach to acetylcholine receptors, blocking their availability to acetylcholine, causes weakening of the skeletal muscles
may also bind to acetylcholine receptors causing paralysis and eventual death due to respiratory compromise
used for cosmetic purposes, clostridium botulinum is an inhibitor of acetylcholine release by motor fibers, diminishes frown lines that the contraction of muscle fibers would otherwise produce
simple reflex arc
an example of the function of muscle spindles, tapping the patellar tendon causes a stretch reflex in the muscle spindles
cardiac hypertrophy
not an INC in number of muscle fibers, but a growth in their length and width, dead muscle tissue is replaced by fibrous CT
Spina bifida
a defective closure of the spinal column
spina bifida anterior
defective closure of the vertebrae
failure of the dervelopmental anterior neuropore to close, not compatible with life
may result from abnormal migration of cortical cells, which disrupts normal interneuronal functioning
Hirschsprung disease (aka congenital megacolon)
caused by failure of the neural crest cells to invade the wall of the gut, thus the gut lack Auerbach’s plexus, this leads to dilation and hypertrophy of the colon
mode of transfer for certain viruses (herpes simplex and rabies virus)
retrograde axonal transport, allows for the spread of the virus from one neuron to the next, how toxins are also transported from the periphery into the CNS
AIDS/HIV and effect on microglial cells
microglial cells are found in large populations in the brain in individuals with AIDS or HIV, HIV attacks microglial cells, which then produce cytokines toxic to neurons
multiple sclerosis (MS)
disease affecting myelin, 1.5X more common in females than in males, demyelination in the CNS, leads to random, multifocal inflammation edema, and demyelination of axons
radiation therapy and chemotherapy
may both lead to demyelination of the brain or spinal cord
Guillain-Barre Syndrome
immune disorder that produces inflammation and reapid demyelination within the peripheral nerves and motor nerves arising from the ventral roots, associated with respiratory and/or GI infection, symptoms include muscle weakness
Huntington’s chorea
hereditary condition, begins as flicking of the joints that progresses to severe distortions, dementia, and motor dysfunction, loss of GABA producing cells and eventual loss of acetylcholine-secreting cells
Parkinson’s disease
crippling disease related to the absence of dopamine, characterized by muscular rigidity, constant tremor, slow movement and a mask-like face and difficult voluntary movement
hypertonic solution that opens the tight junctions of the capillary endothelial cells for administration of therapeutic drugs
transferring receptors
permit drugs acess across the blood brain barrier and into the CNS
swelling of brain tissue, leads to enlargement of the head in the fetus and neonate, impairment of mental and muscular functions and death