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54 Cards in this Set

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  • Back
Myotubular myopathy
defect in lipid phosphatase resulting in embryonic muscle tissue; x-linked; Xq28 mutation in MTM1 gene encoding for myotubularin protein-lipid phosphatase; central nucleus in skeletal muscle
Duchenne's muscular dystrophy
mutation in gene for dystrophin; X-linked (Xp21); can't anchor actin to ECM; disruption of sarcolemma (Ca); increased serum creatine kinase levels
inhibits ACh release at NMJ; foid poisoning by Clostridium botulinum toxin (BOTOX); inhibits ACh at NMJ
Myasthenia gravis
autoimmune disease affecting ACh receptors (antibodies); ptosis (dropping eyelid) and diplopia (double vision)
cancer arising from striated muscle; common in children-embryonal; alveolar-teens; anaplastic-rarer; IF desmin
Central core disease
mutation in ryanodine receptor; poor muscle tone, skeletral deformities; abnormality in myofibers, myosin ATPase will have devoid staining
Nemaline myopathy
defect in nebulin; histology- nemaline bodies/rods (actin and alpha-actinin); muscle weakness, respiratory issues
Desmin-related myopathy
mutation in desmin results in loss of sarcomeric structure (agreggates instead of IF rods); sarcomere misaligned and loss of Z-lines; desmin inclusion bodies;
Myocardial infarction
necrotic death of myocytes from prolonged ischemia (less than 20 min); lactic dehydrogenase-1 and creatine kinase in serum
Pompe's disease (Acid maltase deficiency)
loss of acid maltase in muscle, cannot process carbs, affects glycogen conversion to glucose in lysosomes (LSD)
Naegleria fowleri infection
a protist into CNS via nose, olfactory mucosa and cribriform plate, cause primary amoebic meningoencephalitis (PAM)
maxillary in adults, ethmoid in children; blockage of drainage by paralysis of ciliary elevator, respiratory infection, deviated septum
Cystic Fibrosis
nasal polyps; sweat test, defects CFTR, Cl is degraded in golgi bc protein foldin. decreased Na/Cl in sweat glands, other cells Na reabsorps and water moves in cell (thick mucous)
decreased surfactant; from prematurity, diabetes, C section; atelectasis results in intrapulmonary shunting; collapses alveoli lined by hyaline membranes; failure of Type 2
hyaline membranes appear, Type 1 die and replaced by type 2; intraalveolar edema, mem w/fibrin and cell debris
loss of lung volume bc inadequate expansion, collapse of alveolus
Early acute pneumonia
alveoli fill with wbc/rbc (hepatization); enlarged capillaries, filled with neutrophils, fibrin
malignant tumor in serous membranes, 90% are pleural, exposure to asbestos; spread to pericardium and diaphragm; results in thickening
clara cells protein is marker of bronchiole damage (COPD/asthma); secretion of protein decreases; serum levels increase because leakage across blood-air barrier
permanent dilation of bronchi, destruction of cartilage and elastic tissue, caused by CF,TV,carcinoma,primary ciliary dyskinesia; in lower lobes
A1-antitrypsin deficiency leading to emphysema
emphysema=permanent enlargement of air spaces distal to terminal bronchiole, narrowing of bronchioles, alveolar macrophages in air spaces; this deficiency causes severe emphysema; from liver, degrades elastin and replaced by CT
large and muscular (medium) arteries; accumulation in intima with sm muscle, lipits, CT; fatty streak-macrophages with lipid, T-lymphocytes; fibrofatty plaque-thick fibrous CT
marfan syndrome
death-aortic dissection; fibrillin disorder; faulty tunica media, mitral valve, changes in chordae tendinae
vessel aneurysms
dilation of artery by 50%, weakened vessel wall, artherosclerosis or bacterial/fungal infection; men>55 have abdominal; syphilitic-T.pallidum obliterated vaso vasorum
intravascular mass attached to vessel wall; coagulation factors, rbc, platelets; endothelial cell injury
detached mass carried by blood
multiplication of sm muscle, tunica media increase in thickness, sm m accumulate lipid (narrow lumen), hyperplasia
Aschoff body
lesion of rheumatic myocarditis: degenerated collagen surrounded by lymphocytes, plasma cells, histiocytes; Anitschkow-histiocyte, multinucleated (ribbon), CT of myocardium
Raynaud's phenomenon
reversible ischemia of peripheral arterioles involving fingers and toes; vasospasm; associated with another illness (autoimmune)
defect in lymph transport bc abnormal/damaged; accumulation of fluid and proteins in ECM; chylothorax (accum of fat); chyle accumulate 75-200 ml/hr
giant cell arteritis (GCA)
inflamm vasculitis affecting med and large arteries; visual loss; inflam of aortic arch; segmental or patchy; related to internal elastic lamina; inflam infiltrate in media of arterial wall; extracranial vertebral, superficial temporal, ophthalmic
high levels of ET-1 (endothelin) gene expression
endothelium-induced vasoconstriction (bc decrease NO); endothelial and sm muscle cells; systemic hypertension
Peptic ulcer
open sores in stomach, sm intestine, esophagus; internal bleeding, peritonitis if penetrates organ wall, worse with empty stomach; bacterial infection or medication; treat with antibiotics/proton-pump inhibitors
pernicious anemia
disruption of RBC in bone marrow bc deficiency in Vit B12; antibodies against H/K ATPase so decrease HCl and lack of intrinsic factor
Zollinger-Ellison syndrome
gastrin tumors of pancreatic islets or sm intestine; hyperplasia/hypertrophy; high acid secretion (HCl by parietal); proton-pump inhibitors
gastric reflux
barretts esophagus; strat squamous to simple columnar epi; high risk for esophageal adenocarcinomas; low pH digestive enzymes
gluten enteropathy
destructive effects of certain glutens on intestinal villi; reduces SA for absorption
colorectal carcinoma
age>50, polyps, ulcerative colitis, Crohn disease, from adenomatous polyps, asymptomatic for years, rectal bleeding, gas pain, incomplete bowel emptying, diet-related
diverticulosis-herniation of colon wall, muscosal layers protrude through; diverticulitis-inflammation; 10%>40, 50%>60; low-fiber diet
blockage, previous infection; naval to lower right; 12-18 hrs; mucosal inflam and necrosis
internal hemorrhoids
enlargements of rectal venous plexus; increased venous pressure in portal circulation; 75% of ppl, low fiber, breakdown of CT, pregnancy; red blood
inflammatory bowel disease
ulcerative colitis (muscosa of lg intestine) and Crohn disease (any segment); Crohns is chronic inflam producing cytokines damaging mucosa, granulomas
Hirschsprung disease
congenital megacolon; mutation preventing migration and differentiation of neural crest cells; aganglionosis; permanently contracted and does not allow entry of contents so constipation; thick/irreg nerve bundles, no ganglion cells, 25% newborn obstructions, Downs syndrome
salivary gland tumors
80% benign; originate in parotic; pleomorphic containing ducts, CT, myoepithelial cells; painless
sjogren syndrome
xerostomia (cotton mouth), dry eyes, autoimmune, female dominant; aggregates of 50 lymphocytes adjacent to mucous acini
acute pancreatitis
injury to acinar cells, duct obstruction, secretion against obstruction (gallstone), inapprop activation of proenzymes, AIDs, ethanol; increased serum amalyase, fat necrosis (lipase), vascular destruction (proteases)
cystic fibrosis
mucous inspissation in ducts, secondary atrophy of glands (blocking lumens); cause pacreatic exocrine deficiency; from dehydrated secretions blocking duct lumens
centriolobular necrosis
zone 3 hepatocytes ischemic necrosis, congestive heart failure, around central vein
alcoholic hepatitis
swollen in centrilobular region, mallory bodies, neutrophils, collage deposited around central vein, become fat cells; baloon cells, lipocytes
death of hepatocytes, increased collagen; loss of classic lobule arrangement
gallstones from bile, cholesteral (most common), iron (rbc breakdown), or infections in common bile duct; risk factors: female, fat, forty, fertile
gallstone impacted in cystic duct, inflam and infection; thickened muscular layer, impaired fat breakdown, high pressure rearranges mucosa
role of hepatic stellate cells in portal hypertension
change function/type to lay down matrix (increases), produce collagen and ECM; affect sinusoids (constricted by myofibroblasts)
A1 Anti-trypsin (AAT) deficiency
produced in the liver to protect lung from neutrophil elastase activity; 50% get cirrhosis; accumulates in PAS globules