Term
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Definition
| Affects 1:50,000 male live births; females are carriers. Maps to Xq28; 80% of affected individuals have mutation in MTM 1 gene which encodes for myotubularin protein lipid phosphatase. Centrally located nucleus in skeletal muscle which resembles fetal stage of development. Diagnosed by “floppy” male infant followed by needle biopsy. It is characterized by neonatal low muscle tone w/ delayed developmental milestones (esp. head control, crawling & walking). Disease is usually fatal within first 2 years of life due to respiratory failure. No cure. |
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Term
| Duchenne’s muscular dystrophy |
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Definition
| Muscular dystrophies are congenital muscle diseases characterized by severe muscle weakness, atrophy and destruction of muscle fibers. Duchenne’s is the most severe form of muscular dystrophy. X-linked genetic condition that results in progressive muscular weakness associated w/ absence of dystrophin. Disruption of sarcolemma leads to entry of Ca++ into muscle cell which ultimately leads to necrosis of muscle fiber. Primarily affects boys with onset b/w 3-5. Characterized by progressive weakness w/ falls, large calf muscles and difficulty standing. Laboratory finding is increased serum creatine kinase levels. Patients in wheelchair by 12, respirator by 20, and death from pneumonia or heart complications around 20. |
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Term
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Definition
| Food poisoning caused by Clostridium botulinum toxin which inhibits release of ACh at NMJ. Characterized by muscle paralysis, vomiting, nausea and visual disorders. Incidence is rare but fatal if untreated. Treatment (Tx): involves hospitalization, antibiotics, antitoxin. Weaponized by US (WWII) and Iraq (1990). |
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Term
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Definition
| Autoimmune disease in which antibodies (Abs) are produced against α- Ach receptors. Abs bind and block receptors inhibiting normal nerve-muscle interaction. Progression of disease associated w/ ↓ in # of NMJs. Characterized by extreme muscle weakness, most common symptom is weakness of the eye muscles. Affects 20:100,000. Tx: include thymectomy, AChesterase drugs, immunosuppressive drugs, plasmapheresis (removal of Abs) & IV immune globulin |
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Term
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Definition
| Irreversible necrosis of cardiac muscle cells due to prolonged ischemia (> than 20 min). Detect lactic dehydrogenase-1 and creatine kinase (MB) in serum. Can be fatal if there is extensive damage to cardiac muscle. Tx: bypass surgery. LM- 24hr ischemia- eosinophilic cytoplasm, lacks striations and pyknotic (shrinking) nuclei; 3 day ischemia- necrotic, neutrophils. |
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Term
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Definition
| (Myophosphorylase deficiency) - Autosomal recessive muscle disease that interferes with processing of carbohydrates (CHOs). Affects breakdown of glycogen to glucose by myophoshporylase. Onset age is usually child to adult & is not progressive. Characterized by cramps, muscle weakness & pain w/exercise. Tx: behavior modification. |
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Term
| Pompe’s disease (Acid maltase deficiency) |
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Definition
| Loss of acid maltase in muscle leads to inability to process CHOs. Affects storage and breakdown of glycogen in lysosomes (AKA lysosomal storage disease). In absence of acid maltase glycogen is not converted to glucose causing an accumulation of glycogen. Onset in infants and is usually fatal by 2; child and adult onset less severe. Characterized by slow progressive weakness in respiratory muscles, hips, upper leg and arms, shoulders and cardiac involvement in children. |
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Term
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Definition
| cancer characterized by swelling or lump arising from skeletal muscle. 3 types: embryonal, alveolar, or anaplastic. Embryonal is most common and has the best prognosis. Tx: Chemo, radiation, or surgery. |
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Term
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Definition
| is an inflammation of the paranasal sinuses, maxillary sinus most often involved in adults, ethmoid sinus in children. Blockage of drainage via paralysis of ciliary elevator or viral/bacterial upper respiratory infection or deviated septum. Results in fever, nasal congestion, pain over sinus. |
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Term
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Definition
| chronic obstructive pulmonary disease. The defective Cl- channel protein in the bronchial epithelium causes decreased Cl- secretion and increased Na+ and water reabsorption from the lumen. As a result, the “mucociliary escalator” malfunctions with consequent accumulations of a thick viscous mucous secretion. This causes clogging of the lumen of the bronchial tree and subsequently obstructs airflow. In addition, because fluid remains trapped in the lungs, individuals have frequent respiratory tract infections. Children with Cystic Fibrosis develop polyps in ethmoid sinus halitosis. |
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Term
| Respiratory Distress Syndrome |
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Definition
| previously called “hyaline membrane disease”, is a syndrome caused in premature infants by developmental insufficiency of surfactant production and structural immaturity in the lungs. It can also result from a genetic problem with the production of surfactant associated proteins. Causes include prematurity, maternal diabetes, cesarean section resulting in poor O2 exchange because of ↑ surface tension of alveoli alveoli collapse. Grossly the lungs exhibit Purple-Red lungs due to bleeding. Microscopic, alveoli lined by hyaline membranes. Decreased synthesis of surfactant results in alveolar collapse. |
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Term
| Alpha 1-Antitrypsin Deficiency leading to Emphysema |
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Definition
| Alpha 1-Antitrypsin is produced in the liver and it inactivates neutrophil elastase (enzyme that degrades elastin). Deficiency of Alpha 1-Antitrypsin leads to destruction of the alveolar wall by excess lysis of elastin and other structural proteins in the alveolar septa. Elastic fibers replaced by CT causing thickening of vessel wall. These events lead to emphysema. Emphysema is a lung condition characterized by permanent enlargement of the air spaces distal to the terminal bronchiole. Thus, significant area for gas exchange is lost. |
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Term
| Adult Respiratory Distress Syndrome |
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Definition
| Type I alveolar cells are damaged and the denuded space is replaced by the deposition of proteins, fibrin, and cellular debris, producing hyaline membranes. Injury to the surfactant-producing type II cells contributes to alveolar collapse causing poor exchange of O2. Causes of ARDS include acute injury to the lung, commonly resulting from sepsis, trauma, and severe pulmonary infections. |
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Term
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Definition
| loss of lung volume due to inadequate expansion of the air spaces (collapse). The most common cause of atelectasis is an obstruction of a large bronchus. Smaller airways can also become blocked. The obstruction may be caused by a plug of mucus, a tumor, or an inhaled foreign object inside the bronchus. Alternatively, the bronchus may be blocked by something pressing from the outside, such as a tumor, enlarged lymph nodes, or a significant amount of fluid or air in the pleural space. When an airway becomes blocked, the air in the small air sacs of the lung (alveoli) beyond the blockage is absorbed into the bloodstream, causing the alveoli to shrink and retract. The collapsed lung tissue commonly fills with blood cells, serum, and mucus and becomes infected. |
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Term
| Early Stages of Acute Pneumonia |
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Definition
| Alveoli fill with exudates containing WBCs and RBCss, referred to as hepatization because the lung resembles the liver. The lung has enlarged capillaries giving it a red color, lacks alveoli or actually that are functional because they are swollen or filled with neutrophils, rbcs, and fibrin. Hepatization red (enlarged capillaries), firm (lack of air spaces), and heavy (presence of exudant w/i alveoli). |
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Term
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Definition
| 90% are pleural. Affects mesothelial cells and can replace underlying tissue (ex. alveoli). |
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Term
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Definition
| A disease of large and muscular (medium-sized) arteries that results in the progressive accumulation within the intima of smooth m. cells, lipids, and CT. Can cause ischemic heart disease, myocardial infarction, stroke, and gangrene of the limbs. An initial structural abnormality of atherosclerosis: Fatty Streak – elevated lesions in the intima that contain accumulations of intracellular and extracellular lipid. Macrophages filled with lipid (foam cells) accumulate. Smooth m. cells also contain lipid. Fibrous cap contains: foam cells, sm. m. cells, lymphocytes, increased synthesis of collagen and proteoglycans. Advanced stages include thrombosis, thinning of tunica media, calcifications, necrotic masses. Figure 13.12 page 376 is super helpful. |
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Term
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Definition
| consists of absence or irregular elastin-associated fibrillin microfibrils. Faulty tunica media = vessels dissect. Mitral valve disorders = prolapse or redundant. Changes in chordae tendinae b/c elastin located here. Causes arachnodactyly, displacement of lens of eye and aortic problems. |
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Term
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Definition
| dilation of an artery with a diameter of at least 50% greater than the normal size of the artery. Could be caused by atherosclerosis – most commonly seen in abdominal aorta; a mycotic aneurysm; or a syphilitic aneurysm. In latter, the T. pallidum obliterates the vaso vasorum. |
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Term
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Definition
| an intra vascular mass (clot) attached to vessel wall and is composed of varying proportions of coagulation factors, rbcs, and platelets. Can be caused by endothelial cell injury, especially arterial thrombi. |
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Term
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Definition
| Detached mass (clot, fat, gas) carried through the blood to distant site. These lodge in various places: atrium, microvasculature throughout body, pulmonary system. |
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Term
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Definition
| It occurs in about 25% of the population. Defined by a sustained DBP >90 mmHg or sustained SBP > 140 mmHg. Multiplication of smooth mms occurs and tunica media increases in thickness, smooth mms cells accumulate lipid. Intimal thickening occurs in a fat- free diet. Smooth muscle hyperplasia AND cardiac muscle hyperplasia…less elasticity mms work harder cardiac mms hyperplasia. |
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Term
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Definition
| characteristic acute myocardial (and pericardial) rheumatic lesion. The body has a central region of degenerated collagen, surrounded by lymphocytes, plasma cells, some neutrophils, and histiocytes. Ribbon-like (caterpillar like) nucleus (evident owl’s eye) and eosinophilic cytoplasm. This cell is a large histiocyte and may be multinucleated. |
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Definition
| a result from seeing skin arterioles contracting or going into vasospasm; usually involves fingers and toes; usually associated with another autoimmune disease (ex. scleroderma). |
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Term
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Definition
| Open sores on lining of esophagus, stomach and/or small intestine. It is called peritonitis when the ulcers penetrate gastrointestinal wall. There is usually a burning pain that increases on an empty stomach. Caused by bacterial/fungal infection (ex. Helicobacter pylori (1/5 <30 yr). Aggravated by stress, smoking or spicy food. Tx. Antifungals; hydrogen pump inhibitors |
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Term
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Definition
| Disruption of formation of RBC in bone marrow due to deficiency of vitamin B12, or can be caused by autoimmune gastritis (90%) which produce Abs against H/K ATPase à decrease in HCl in gastric juice (achlorhydria: lack of parietal cells) & lack of synthesis of intrinsic factor. Onset usually after age 30. 2% of 60 or older. Anaerobic gram-negative bacteria and parasitic tapeworms also produce symptoms of p.a. Liver has extensive stores of Vit B12, so the disease is often not recognized until long after significant changes in gastric mucosa have occurred. Tx: monthly injection of vitamin B12. |
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Term
| Zollinger-Ellison Syndrome |
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Definition
| Tumor of pancreas secretes gastrin à increase HCl production by stomach à formation of peptic ulcers in numerous, unusual regions of stomach & duodenum. Hyperplasia and hypertrophy of fundic region. Complications include: fulminant (sudden onset) stomach ulceration, diarrhea (gastrin causes inhibition of water and electrolyte absorption in intestine), steatorrhea (inability to absorb fat due to inactivation of pancreatic lipase by low pH), and hypokalemia. Usually resistant to treatment & returns upon conclusion. Tx includes: proton-pump inhibitors & surgery. Rare disorder 1:1,000,000 |
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Term
| Gastric reflux & Barrett’s esophagus |
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Definition
Gastric reflux: low pH, digestive enzymes in esophagus heartburn. Burning sensation below & behind sternum; Tx– antiacids & acid-blocking drugs
Barrett’s Esophagus: due to a change in epithelium (metaplasia) of esophagus (from stratified squamous to simple columnar) – this change is not accompanied by new symptoms. Patients at high risk for esophageal adenocarcinomas (risk is 30 – 125X higher); usually found late and thus not curable. |
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Term
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Definition
| Results from destructive effects of certain glutens (esp., rye & wheat) on intestinal villi (villous atrophy). Also, decreased surface area is available for absorption. Tx: remove rye & wheat from diet. Affects 1 in 120-300; seen as failure to thrive in infants. |
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Term
| Inflamatory bowel disease |
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Definition
Includes ulcerative colitis & Crohn’s disease (CD).
Ulcerative colitis affects mucosa of large intestine. Symptoms: diarrhea, pain, periodic relapses.
CD affects any segment of intestinal tract. CD is chronic inflammatory process, with immune system cells (lymphocytes, neutrophils, and macrophages) producing cytokines damaging intestinal mucosa, progressing into submucosa and muscularis externa. Results in obstructions of bowels AND deep ulcerations in gut wall. Onset: adolescence/early adulthood. Symptoms: nausea, fever, weakness, chills, anorexia, weight loss, diarrhea, abd pain, relapses. Side effects: malnutrition, fistulas. Tx: corticosteroids, Abs, and anti-inflamatories. No cure. |
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Term
| Hirshsprung’s disease (congenital megacolon) |
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Definition
| Caused by mutation in 1 – 4 genes preventing migration & differentiation of neural crest cells into neurons of enteric nervous system. Seen also w/Down’s syndrome. AKA aganglionosis or anganglionic megacolon. Aganglionic segment is permanently contracted & therefore does not allow entry of contents resulting in abnormal form of constipation. Seen shortly after birth infant abdomen becomes distended and little meconium is eliminated. Biopsy of mucosa and submucosa confirms diagnosis thick and irregular nerve bundles and lack of ganglion cells. Symptoms: delayed initial bowel movement in newborns, vomiting, constipation, abdominal distension, possible rupture of cecum. Tx: surgical removal of affected/non-innervated region of colon (‘pull-thru” surgery: cut out defective colon, resection healthy colon). |
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Definition
| 2nd highest cause of cancer death in US (3rd most frequent in men; 2nd in women); 140,000 US cases diagnosed yearly. Commonly affects people > 55. Usually arises from adenomatous polyps. May be asymptomatic for many years. Rectal bleeding frequently present. Probably diet related (high-fat, refined CHOs and low in fiber). Tx: surgery with or without chemo and radiation therapy. |
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Term
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Definition
| 80% of tumors are benign, most tumors of main salivary glands orginate in parotid (most minor salivary gland tumors originate in the palate); most are pleomorphic containing ducts, CT elements (ground substance and collagen), and myoepithelial cells. B/c of nerve involvement, numbness/pain of innervated muscles can occur. Most common tx is surgical removal. |
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Term
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Definition
| an inflammatory condition of the exocrine pancreas that results from injury to acinar cells. Acinar cell injury and duct obstruction are the major initiators. Some causes: (1) secretion against obstruction (gallstone); (2) inappropriate activation of proenzymes; (3) AIDS; (4) ethanol. Most common causes are alcohol abuse and bile duct obstruction. Inflammation caused by inappropriate pancreatic enzyme release results in: increased serum amylase (observed f/diagnostic test), affects lipase (observed f/fat necrosis), and vascular destruction (observed by protease action). All three consequences acute pancreatitis. |
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Term
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Definition
| 80% of CF patients have visible secretory abnormalities of the pancreas; CF causes mucous inspissation (thickening f/dehydration) in ducts and secondary atrophy of exocrine glands, atrophy of glands form dehydrated secretions that block lumens. Look at CF in Respiratory 7 in ’07 too. |
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Term
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Definition
| hepatocytes in zone 3 (closest to central vein) undergo ischemic necrosis, i.e. congestive heart failure when they do not receive proper oxygen. No change in zones 1 & 2. When due to hypoxia can also be called cardiac cirrhosis, with minimal nodular regenerations of hepatocytes. |
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Term
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Definition
| a. swollen (ballon cells) hepatocytes in centrilobular region, b. Mallory bodies (clinical correlation pg 63) in hepatocytes, c. neutrophils present, d. collagen deposited (fibrosis) around central vein, e. some hepatocytes become fat cells. |
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Term
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Definition
| death of hepatocytes leading to scarring or increased production of collagen destroying normal architecture, characterized by replacement of liver tissue by scar tissue and regenerative nodules, eventually leading to loss of liver function. Common causes include: alcoholism and hepatitis C. |
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Term
| Cholycystitis (inflammation of the gall bladder) |
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Definition
| gallstone impacted in cystic duct leading to: 1) thickened muscular layer due to trying to overcome pressure, 2) impaired breakdown of fat, 3) high pressure in gall bladder rearranges mucosa. Extreme cases may result in necrosis and rupture. |
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Term
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Definition
| Prominent cause of xerostomia (e.g. “Doctor, I can’t swallow dry crackers.”) Seen in 10% of general adult population. Part of diagnosis involves an inner lip biopsy. Positive biopsy= aggregates of 50 lymphocytes adjacent to mucous acini/4mm2 of gland. Lymphocytes eventually replace acini. |
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