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WKU N324: Pathophysiology exam 2
Terms in this set (475)
Endocrine disorders are related to what?
excess of specific hormone, deficiency of specific hormone, and a receptor defect
Signs/symptoms depend on what?
which hormone is effected
Cause of endocrine disorders are related to what?
tumors (common), genetic alterations, trauma or infections of the brain/meninges, lifestyle behaviors
What is hypopituitarism?
insufficient amounts of pituitary hormone(s)
What is the most common cause of hypopituitarism?
brain tumors with signs/symptoms of visual disturbance and headaches
What are select diseases of hypopituitarism?
dwarfism and diabetes insipidus
What is dwarfism?
decrease in growth hormone; short stature, delayed growth, and development
What is diabetes insipidus?
decrease ADH (antidiuretic hormone - vasopressin)
What causes dehydration and circulatory collapse?
excessive urination (polyuria), excessive thirst (polydipsia)
What is hyperpituitarism?
excessive amounts of pituitary hormone(s);
What are select diseases of hyperpituitarism?
gigantism, acromegaly, syndrome of inappropriate antidiuretic hormone (SIADH), hyperprolactinemia, Cushing's disease/syndrome, hyperthyroidism
What is gigantism?
increased growth hormone before puberty causes excessively tall stature
What is acromegaly?
increased growth hormone after puberty causes increased bone size
What is syndrome of inappropriate antidiuretic hormone (SIADH)?
increased ADH causes increased renal water retentions, which leads to fluid volume overload
What is hyperprolactinemia?
increased prolactin causes menstrual dysfunction and galactorrhea (inappropriate lactation)
What is Cushing's disease/syndrome?
increased ACTH (adrenocorticotropic hormone) causes increased cortisol
What is hyperthyroidism?
increased TSH causes increased T3 and T4, which causes hypermetabolic state (speeds everything up)
What is Diabetes Mellitus (DM)?
- a group of conditions characterized by hyperglycemia resulting from defects in insulin production, insulin action, or both
- impaired insulin production/action results in: abnormal carbohydrate, protein, and fat metabolism
What is associated with acute and chronic conditions of nearly all body systems?
What are the general manifestations of diabetes mellitus?
hyperglycemia; glucosuria; polyuria, polydipsia, polyphagia; weight loss, blurred vision, fatigue; sexual dysfunction; paresthesia/pain of hands and feet
What are acute problems of DM?
hyperglycemia, diabetic ketoacidosis, hypoglycemia
What are chronic problems of DM?
- hypertension/cardiovascular disease: heart attacks and stroke
- diabetic retinopathy: blindness
- renal failure: diabetic neuropathy
- pregnancy complications
- increased susceptibility to infections and delayed hearing: amputations
- erectile dysfunction in men
Who is affected DM Type 1?
children and young adults
What is the onset for DM Type 1?
often abrupt; after viral infection - environmental trigger
What are the clinical manifestations of DM Type 1?
cannot be prevented - exact cause is unknown; polyuria, polydipsia, polyphagia; autoimmune reaction destroys pancreatic beta cells
What are complications associated with DM Type 1?
early in disease process, often severe; insulin - Endogenous excretion is absent or very low; treatment - life-long replacement with exogenous insulin injections
What is DM Type 2?
impaired glucose metabolism; pancreas gradually loses ability to produce insulin
Who is typically affected by DM Type 2?
adults > 40 years old
What is the onset of DM Type 2?
What are clinical manifestations of DM Type 2?
insulin resistance initially; patient is often obese; polyuria, polydipsia, polyphagia
What may be present at DM Type 2 diagnosis?
What are risk factors associated with DM Type 2?
advancing age, physical inactivity, obesity
Who are high risk groups for DM Type 2?
African and Native Americans, Hispanics, Asians, Native Hawaiians, Pacific Islanders; family history and history of gestational DM
What is Gestational Diabetes (GDM)?
a form of impaired glucose function (glucose intolerance) of the mother during pregnancy
What are clinical manifestations of gestation diabetes mellitus?
often mild and the mother doesn't know that she has it; usually the doctor orders tests performed at mid-pregnancy to detect it
What are risk factors associated with GDM?
- family or person health history, excessive weight
- race/ethnicity: Black, Hispanic, American Indian, Asian
What are complications associated with GDM for the new born baby?
may have excessive birth weight, born prematurely, develop low blood sugar; DM Type 2 later in life
What are complications associated with GDM for the mom?
high blood sugar and high blood pressure during pregnancy/delivery; 40%-60% develop DM in 5-10 years
What is metabolic syndrome?
not a form of diabetes, but related; a cluster of 3 or more risk factors occurring together
What are clinical manifestations fo metabolic syndrome?
hyperglycemia, high blood pressure, hypercholesterolemia, increased waist circumference
What are complications of metabolic syndrome?
increased risk of cardiovascular disease, DM, and stroke
What is Goiter?
visible enlargement of the thyroid gland, unilateral or bilateral; can be caused by iodine deficiency - uncommon in the US due to iodized salt
Is goiter malignant?
In what in goiter occur?
in hyperthyroidism, hypothyroidism, and normal thyroid states
What does goiter often cause?
decreased T3, T4 - stimulating increased TSH production
Increased TSH in goiter may lead to what?
enlarge thyroid enlargement
What is hypothyroid?
thyroid produces insufficient amounts of T3 and T4 - may be a result of hypothalamus, pituitary, or thyroid dysfunction
- decreased metabolism
What are clinical manifestations of hypothyroid?
fatigue, bradycardia, cold intolerance, unexplained with gain without diet changes
What causes hypothyroid?
autoimmune thyroiditis (aka Hashimoto's thyroiditis); iatrogenic (surgery, certain drugs, radiation, etc.)
What requires life-long thyroid hormone replacement?
What are complications of hypothyroid (Myxedema Coma)?
- severe hypothyroidism leading to decreased mental status, hypothermia, and other symptoms related to slowing in function of multiple organs
- rare and life-threatening advanced hypothyroidism
- marked hypotension, bradycardia, respiratory depression, hypothermia, lethargy and coma
What is hyperthyroid?
excessive levels of thyroid hormone
- increased metabolism
What are clinical manifestations of hyperthyroid?
intolerance (very sensitive) to heat, excessive sweating (diaphoresis); tachycardia, unintentional weight loss, increased appetite
What are causes of hyperthyroid?
excessive iodine intake; Grave's disease - autominnue disorder; nonmalignant thyroid tumors; thyroid inflammation; taking too much thyroid hormone replacement
What are complications of hyperthyroid?
thyroid crisis (storm) - thyrotoxicosis
- life threatening
What may occur with infection or stress?
sudden worsening of hyperthyroidism
- decreased mental alertness
- abdominal pain
- tachycardia and heart failure
What is hypoparathyroidism?
(disorders of parathyroid gland)
condition in which the parathyroid gland does not produce sufficient amounts of PTH
What are clinical manifestations associated with hypoparathyroidism?
reflect electrolyte (low serum calcium) and pH imbalances
- paresthesias (numbness/tingling) on fingertips, toes, and lips
- muscle twitching or spasms (tetany)
- patty hair loss, brittle nails
- dry, coarse skin
- anxiety or nervousness
- depression or mood swings, memory loss
What are causes of hypoparathyroidism?
- congenital defects: lacking one or more of the usual 4 parathyroid glands
- damage to the parathyroid glands following surgery, radiation, autoimmune conditions, hypomagnesemia, metabolic alkalosis
What are complications of hypoparathyroidism?
hypocalcemia, hyperphosphatemia, hypomagnesemia, and metabolic alkalosis
What is hyperparathyroidism?
(disorder of parathyroid gland)
condition of excessive PTH production by the parathyroid glands
What are clinical manifestations of hyperparathyroidism?
reflect electrolyte (high serum calcium) and pH imbalances
- osteoporosis, bone pain, pathological fractures
- renal calculi (kidney stones)
- flaccid muscles, hypertension
- abdominal pain, nausea, vomiting, constipation, anorexia
What are complications of hyperparathyroidism?
hypercalcemia, hypophosphatemia, hypermagnesemia, and metabolic acidosis
What is pheochromocytoma?
(disorder of adrenal glands)
rare tumor of the adrenal medulla that excretes epinephrine and nonepinephrine
What are clinical manifestations of pheochromocytoma?
hypertension, tachycardia, chest pain, profound diaphoresis; sudden onset of severe headache, anxiety
What are complications of pheochromocytoma?
hypertensive crisis, stroke, renal failure, psychosis, and seizures
What is Cushing's Disease/Syndrome?
(disorder of adrenal glands)
adrenal cortex; condition of excessive amounts of glucocorticoids (cortisol - sugar)
What are clinical manifestations fo Cushing's Disease/Syndrome?
- truncal obesity; fatty pads between shoulder (buffalo bump), round/full (moon) face, thin legs and arms
- thin skin that bruises easily, delayed wound healing
- insulin resistance, hypertension
What are causes of Cushing's Disease/Syndrome?
iatrogenic from ingestion of glucocorticoid medications; adrenal tumors that secrete glucocorticoids; pituitary tumors that secrete ACTH and cortisol; paraneoplastic syndrome
What is Addison's Disease?
adrenal cortex; deficiency of adrenal cortex hormones (aldosterone - salt; cortisol - sugar)
What are clinical manifestations of Addison's disease?
- hypotension (low blood pressure), hypoglycemia (low blood sugar), unintentional weight loss
- hyperpigmentation, salt cravings
What are causes of Addison's disease?
- autoimmune conditions, infections, tumors, pituitary dysfunction that results in insufficient ACTH levels
- weakness, fatigue, ELECTROLYTE IMBALANCE (hyperkalemia, hyponatremia)
Who is at a higher risk for cleft lip and cleft palate?
Native Americans, Hispanics, Asian
Who is at a higher risk for cleft lip? (male/female)
Who is at a higher risk for cleft palate? (male/female)
What is cleft lip?
results from failure of the maxillary processes and nasal elevations or upper lip to fuse during development; may be unilateral or bilateral
What is cleft palate?
results from failure of the hard and soft palate to fuse during development, creating an opening between the oral and nasal cavity; teeth and nasal malformations are often present
What are multifactorial causes of cleft lip and palate?
genetic mutations, drugs, toxins, viruses, vitamin deficiencies, cigarette smoking, and maternal diabetes
If severe, what can cleft lip and palate cause?
HIGH RISK FOR ASPIRATION; some nutritional deficits, feeding and speech difficulties, ear infections, and hearing problems
What is Pyloric Stenosis?
(disorder of upper GI tract)
narrowing or blocking of the pyloric sphincter; the pyloric sphincter muscle fibers become thick and stiff, making it difficult for the stomach to empty food into the small intestines
What is the most common cause of obstruction in infancy?
What are signs/symptoms of pyloric stenosis?
hard olive-shaped mass in RUQ of abdomen; projectile vomiting (infants); wave-like stomach contractions; persistent hunger, failure to gain weight
What is dysphagia?
(disorder of upper GI tract)
What are signs/symptoms of dysphagia?
HIGH risk for aspiration; sensation of something stuck in throat; choking, coughing; food pocketing in cheeks; delayed or painful swallowing
What are causes of dysphagia?
mechanical obstructions: congenital atresia, esophageal stenosis or stricture, esophageal diverticula, tumors
neurological alterations/diseases: stroke, traumatic brain injury, Parkinson's disease, Alzheimer's disease, and muscular dystrophy
What is vomiting?
(disorder of upper GI tract)
involuntary/voluntary forceful ejection of chyme from the stomach up through the esophagus and out the mouth, reverse peristalsis
What is the vomiting reflex?
stimulus to vomiting (emetic) center in the medulla; hyper salivation, pallor, sweat, tachycardia; glottis closes to protect the trachea, soft palate rises to close off the nasopharyngeal airway; deep inspiration, diaphragm contracts; gastroesophageal sphincter (LES) and fundus of stomach relaxes; abdominal muscles contract forcefully against the diaphragm - forces chyme upward into the esophagus; reverse peristalsis (anti peristalsis) ejects chyme out of mouth
What are signs/symptoms of vomiting?
color of emesis can determine source
What is hematemesis?
bright red or coffee-ground appearance; can occur in any conditions that cause upper GI bleeding
What is a yellow or green colored vomitus?
What is a deep brown colored vomitus?
What is partially digested food vomitus?
What is projectile vomitus?
a condition that should be investigated because it could be caused by increased intracranial pressure or pyloric stenosis
What are causes of vomiting?
can be protective or a sign of increased intracranial pressure; often associated with severe pain; may be preceded by nausea and/or retching; sometimes associated with small or large bowel obstruction
What are complications of vomiting?
fluid, electrolytes, and pH imbalances; aspiration, aspiration pneumonia
What is Hiatal Hernia (HH)?
(disorder of upper GI tract)
a stomach section protrudes upward through an opening in the diaphragm toward the lung; can be small or large
What are signs/symptoms of Hiatal Hernia?
chest pain (MOST COMMON); indigestion, heartburn; frequent belching; nausea; strictures; dysphagia
What are causes of Hiatal Hernia?
weakness of the diaphragm, increased intrathoracic or intra-abdominal pressure, abdominal trauma, congenital defects
What are risk factors associated with Hiatal Hernia?
smoking, advanced age
What are complications of Hiatal Hernia?
reflux of chyme into pouch or esophagus; may develop gastroesophageal reflux disease (GERD)
What is Gastroesphageal Reflux Disease GERD)?
(disorder of upper GI tract)
stomach contents periodically back up (reflux) from the stomach into the esophagus; back flow with decreased Lower Esophageal sphincter pressure or increase stomach pressure
What are signs/symptoms of GERD?
heart burn, epigastric pain; dysphagia, nausea, vomiting, dry cough; laryngitis, pharyngitis; sensation of lump in throat
What are caused of GERD?
alcohol consumption, smoking; hiatal hernia, obesity, pregnancy; certain foods and medications
What are complications of GERD?
esophagitis, ulcers, strictures; esophageal cancer; chronic pulmonary disease
What is gastritis?
(disorder of upper GI tract)
inflammation of the stomach's mucous lining
What are signs/symptoms of gastritis?
reflect inflammation of the mucosal lining; indigestion, heartburn, nausea, vomiting; epigastric pain, abdominal cramping
What are the 3 types of gastritis?
acute, chronic, gastroenteritis
What is acute gastritis?
mild, transient irration or severe ulceration with hemorrhage
What is chronic gastritis?
Helicobacter pylori (H. pylori) is the common cause; onset gradually and lasts months to years
What is gastroenteritis?
stomach bug; inflammation of gastric/intestines related to infection from contaminated food or water, such as e.coli, salmonella, rotavirus, and amoebas; may be the result of an allergic reaction (notice in eyes and nose)
What are the risks of gastritis?
long-term use fo NSAIDS (ibuprofen - common drugs that people take often); genetic vulnerability (can run in families); lifestyle behaviors (smoking, alcohol); stress from surgery, major burns, or infections (may increase susceptibility)
What are complications of acute gastritis?
gastric ulcer and gastrointestinal bleeding
What are complications of chronic gastritis?
peptic ulcers, gastric ulcers, anemia, gastrointestinal bleeding
What is Peptic Ulcer Disease (PUD)?
(disorder of GI tract)
break/ulceration in the protective mucosal lining of the lower esophagus, stomach, or duodenum; ulcers usually develop due to an imbalance between excessive acid production and decreased mucus production
What are signs/symptoms of PUD?
indigestion, heartburn, nausea, vomiting; epigastric pain, abdominal cramping; dark, tarry stools, blood in vomitus (hematemesis); local tissue ischemia (minimizes blood flow to that area and tissue begins to die due to lack of blood/oxygen), tissue acidosis; decreased gastric motility
What are 3 types of ulcers?
duodenal, gastric, and stress
What are duodenal ulcers?
most common type of peptic ulcer (80%); excessive acid production; H. pylori infection; epigastric pain relieved with eating
What are gastric ulcers
less frequent but more deadly; associated with malignancy, use of NSAIDS; epigastric pain worse with eating
What are stress ulcers?
develops because of a major physiological stressor on body - hemorrhage is often the first indicator; large burns, trauma, sepsis; most frequently develop in stomach
What are 2 types of stress ulcers?
Curling's ulcers: large burns
Cushing's ulcers: head injury
What are complications of all ulcers?
GI hemorrhage, obstruction, perforation, peritonitis
What is Cholelithiasis?
(disorder of gallbladder)
gallstones (calculi) - may vary in size and shape
What are signs/symptoms of Cholelithiasis?
biliary colic: abdominal cramps/pain after fatty meal;
abdominal dissension, nausea/vomiting, jaundice, clay colored stools (gray) due to lack of bile in stools, fever and leukocytosis
What are risk factors of Cholelithiasis?
classic signs: female, fat, flatulent, fertile
What is Cholecystitis?
(disorder of gallbladder)
inflammation of the gallbladder; stone can enter the cystic duct, or common bile duct, and obstruct bile flow
What is hepatitis?
(disorder of liver)
inflammation of the liver
What causes hepatitis?
infections (usually viral - spread via oral/fecal route or blood-borne); alcohol; medications (Tylenol, antibiotics); autoimmune disease
Types of hepatitis can be what?
- acute, chronic, or fulminant
- active or non-active
- viral or non-viral
What are types of viral hepatitis?
A, B, C, D, E
What types of hepatitis are transmitted through contaminated food and water?
A and E
What type of hepatitis is transmitted through unprotected sex/mother-to-child transmission?
What type of hepatitis is transmitted through unprotected sex/blood borne transmission with no vaccine in the US?
What type of hepatitis infection only occurs if a patient is infected with hepatitis B?
Viral hepatitis infections account for what percentage of all hepatitis?
What are signs/symptoms of acute viral hepatitis in the prodromal stage?
2 weeks after exposure, viral-like symptoms; nausea/vomiting, anorexia, low grade fever, headache, malaise
What are signs/symptoms of acute viral hepatitis in the icteric stage?
1-2 weeks after prodromal, lasts up to 6 weeks; jaundice, dark tea-colored urine, clay colored stools, RUQ abdominal pain, hepatomegaly
What are signs/symptoms of acute viral hepatitis in the recovery stage?
jaundice fades 6-8 weeks after exposure; liver may be enlarged for 3 months
What are complications for all types of hepatitis?
liver failure, liver cancer, cirrhosis of the liver
What is chronic hepatitis?
continued hepatic disease lasting LONGER THAN 6 months; symptom severity and disease progression depend on degree of liver damage
What is fulminant hepatitis?
an uncommon, rapidly progressing arm that can quickly lead to liver failure, hepatic encephalopathy, or death WITHIN 3 WEEKS
What is Cirrhosis?
(disorder of liver)
chronic, progressive, irreversible, diffuse damage to the liver resulting in decreased liver function
What cause cirrhosis?
chronic alcohol abuse is the most frequent cause in the US; hepatitis and all factors leading to hepatitis
What are signs/symptoms and complications of cirrhosis?
- portal hypertension: pressure in the hepatic artery & portal vein causes scare tissue, blood backs up and cause portal hypertension
- portal hypertension leads to varies (over-stretched blood vessels) and ascites (fluid accumulation in peritoneal cavity)
- veins in esophagus engorge with blood; high risk for GI bleeding
- bile accumulated in liver: inflammation necrosis, bile can't get into duct and enter blood stream causing jaundice
- unable to filter toxins & waste: ammonia builds up and causes mental status changes
What is pancreatitis?
inflammation of the pancreas
- pancreatic injury cause pancreatic enzymes to leak into pancreatic tissue, which leads to autodigestion; leads to edema, vascular damage, hemorrhage, and necrosis
- pancreatic tissue is replaced by fibrosis: this causes exocrine and endocrine changes and dysfunction of islet of Langerhands
What are the two types of pancreatitis?
chronic pancreatitis and acute pancreatitis
What are the manifestations fo chronic pancreatitis?
tend to be insidious; upper abdominal pain, indigestion, weight loss without trying, Steatorrhea (fatty, frothy stools with very foul odor), flatulence, constipation
What are the manifestations of acute pancreatitis?
usually sudden and severe; right upper abdominal pain radiates to back, worse after eating, may lessen if patient leans forward or pulls knees to chest; nausea/vomiting, low-grade fever, mild jaundice
What are complications of acute pancreatitis?
diabetes mellitus, infection, shock, blood clotting disorder, renal failure, malnutrition, abscess
What are the two types of diarrhea?
(disorder of lower GI tract)
acute diarrhea and chronic diarrhea
What is acute diarrhea?
generally infectious and accompanied by cramping, fever, nausea, and vomiting; often caused by viral/bacterial infections or certain medications
What is chronic diarrhea?
- last longer than 4 weeks
- inflammatory bowel diseases: Crohn's disease, ulcerative colitis
- malabsorption syndromes ( celiac disease), endocrine disorders (thyroid disorders)
- chemotherapy and radiation
What are clinical manifestations of diarrhea that originate in the small intestine?
large loose stools, provoked by eating, right lower quadrant abdominal pain
What are clinical manifestations of diarrhea that originate in the large intestine?
small frequent stools, pain and cramping in lower left quadrant abdominal pain
What are clinical manifestations of diarrhea with blood in stools?
- frank blood: bright red blood on the surface of stool
- occult blood: small amount of blood hidden in the stool
- melena: dark, tarry appearing; arises from GI bleeding higher in the GI tract
What is constipation?
(disorder of lower GI tract)
change in bowel pattern characterized by infrequent passage of stool in reference to the individual's typical bowel pattern
What are clinical manifestations of constipation?
inability to pass stool after 10 minutes of straining or pushing to expel feces; no BM for 3 days; hypoactive bowel sounds
What are causes of constipation?
low fiber diet, inadequate intake of fluids and physical activity; delaying urge to defecate; laxative abuse; stress; diseases/conditions of the bowels; certain medications (Fe supplements, narcotics); neurologic diseases (stroke, spinal cord injuries); colon cancer
What are complication of constipation?
hemorrhoids, rectal bleeding, anal fissure or fistula, intestinal obstruction, diverticulitis
What is mechanical intestinal obstruction?(disorder of lower GI tract)
physical barriers: foreign bodies, tumors, adhesions, hernias, intussusception, volvulus, strictures
What is functional intestinal obstruction?
(disorder of lower GI tract)
also called paralytic ileum; chyme and gas accumulate at the site of the blockage; serum electrolytes and protein increases, causing abdominal distention and pain; intestinal blood flow can become impaired, leading to strangulation and necrosis; intestinal contents can seep into the abdomen as the pressure increases
What are complications of intestinal obstruction?
perforation, pH imbalances, fluid disturbances, shock, and death
What are clinical manifestations of intestinal obstruction?
abdominal pain/cramping and distention; nausea and vomiting; diarrhea or constipation; decreased or absent bowel sounds; borborygmi or tinkling sounds; restlessness, diaphoresis, tachycardia, shock
What is appendicitis?
(disorder of lower GI tract)
inflammation of the vermiform appendix; most often caused by infection
What are clinical manifestations of appendicitis?
often begins as sharp abdominal pain, which gradually intensifies (over about 12-18 hours), and becomes localized to the lower right quadrant of abdomen (McBurney point - hip); fever, leukocytosis, abdominal guarding, nausea/vomiting, anorexia; pain will temporarily subside if the appendix ruptures, and the pain will return and escalate
What are complications of appendicitis?
abscesses, peritonitis, gangrene, and death
What is peritonitis?
(disorder of lower GI tract)
inflammation of the peritoneum (membrane that lines abdominal wall and abdominal organs - hot abdomen/belly)
What are causes of peritonitis?
chemical irritation: ruptured gallbladder or spleen
direct organism invasion: appendicitis, pelvic inflammatory disease, peritoneal dialysis
What are clinical manifestations of peritonitis?
abdominal pain with abdominal rigidity; nausea and vomiting, decreased peristalsis, distended abdomen, board-hard abdomen; fever malaise, leukocytosis; decreased peristalsis and bowel sounds
What are complications of peritonitis?
sepsis and shock (tachycardia, hypotension, restlessness, diaphoresis - rapid onset and/or not detected early), death
What is celiac disease?
(disorder of lower GI tract)
inherited, autoimmune, malabsorption disorder; defect in intestinal enzymes that breakdown gliadin (product of gluten digestions); GLUTEN FOODS (oats, wheat, barely, rye); leads to decreased enzyme production and less surface area for nutrient absorption
What are clinical manifestations of celiac disease?
abdominal pain, bloating, gas, and indigestion; multiple clinical manifestations secondary to nutritional deficits
What is inflammatory bowel disease?
(disorder of lower GI tract)
includes chronic inflammation of the GI tract, usually the intestines
What are the two types of inflammatory bowel disease?
Crohn's disease and Ulcerative colitis
What is Crohn's disease?
patchy areas of inflammation that skip around on the bowel (different parts are affected - skip lesions); cobblestone appearance; intestinal lumen becomes narrowed and potentially obstructed
What are clinical manifestations of Crohn's disease?
abdominal cramping and pain (typically in the right lower quadrant); diarrhea, melena (blood in stool)
What are complications of Crohn's disease?
malnutrition, anemia (iron-deficiency is common); fistulas, adhesions, intestinal obstructions, perforation of the affected area in the intestines
What is ulcerative colitis?
refers to colon; progressive, condition of the rectum and colon mucosa; begins in rectal area and works its way up - no skipping around; causes epithelium loss, surface erosion, and ulceration that begins in the rectum and extends to the entire colon
What are clinical manifestations of ulcerative colitis?
diarrhea (usually frequent - as many as 20 daily); watery stools with blood and mucus
What are complications of ulcerative colitis?
necrosis and occur and result in abscesses; ulcers combine, creating large areas of stripped mucosa that results in an inadequate surface area for absorption
What are characteristics of Crohn's disease and ulcerative colitis?
periods of exacerbations and remissions; fluid, electrolyte, and pH imbalances develop; can be painful, debilitating, and life-threatening
What is irritable bowel syndrome (IBS)?
(disorder of lower GI tract)
chronic, non-inflammatory, GI condition characterized by exacerbations associated with stress; includes alterations in bowel pattern and abdominal pain not explained by structural or biochemical abnormalities; less serious that inflammatory bowel disease and does not cause permanent intestinal damage
What triggers irritable bowel disease?
hormone changes and GI infections; stress; foods (chocolate, alcohol, diary products, veggies, fruits, carbonated beverages
What are clinical manifestations of IBD?
stress/mood disorders often worsen symptoms; abdominal distention, fullness/bloating; intermittent abdominal pain exacerbated by eating and relieved by defecation; chronic and frequent constipation or diarrhea; bowel urgency
What is diverticular disease?
(disorder of lower GI tract)
outwardly bulging pouches of the intestinal wall through muscles layers - commonly in the sigmoid colon
What causes diverticular disease?
associated with low-fiber diet and poor bowel habits that result in chronic constipation; more common is developed countries where processed foods and low-fiber diets are typical
What is diverticulosis?
asymptomatic diverticular disease; multiple diverticula present
What is diverticulitis?
diverticula have become inflamed usually due to retained fecal matter; can result in potential fatal obstructions, infection, abscess, perforation, peritonitis, hemorrhage, and shock
What are clinical manifestations of diverticulitis?
abdominal cramping followed by passing blood; abdominal tenderness (left lower quadrant), abdominal distention; constipation, nausea, vomiting; can develop low-grade fever and leukocytosis
What is oral cancer?
(cancers of GI tract)
usually squamous cell carcinoma; most occur on the tongue and mouth floor
What are risk factors associated with oral cancer?
smoking and/or alcohol consumption; viral infections (especially the human papilloma virus)
What are clinical manifestations of oral cancer?
usually appears initially as painless, whitish thickening that develops into a nodule/ulcerative lesion that persists, does not heal, and bleeds easily; a lump, thickening, or soreness in the mouth, throat, or tongue as well as difficulty chewing or swallowing; multiple lesions may be present
What is the prognosis for oral cancer?
very treatable if caught early, but most causes are advanced upon diagnosis; often metastasizes to neck lymph nodes and esophagus
What is esophageal cancer?
(cancers of GI tract)
squamous cell carcinoma or adenocarcinoma; usually occurs in the distal esophagus
What are risk factors associated with esophageal cancer?
associated with chronic ERD, achalasia, hiatal hernia; alcohol abuse, tobacco use (smoke and smokeless); obesity
What are complications of esophageal cancer?
tumors grow on the circumference of the esophagus creating a stricture; tumors can grow out into the lumen of the esophagus, creating an obstruction ; respiratory compromise; esophageal bleeding
What are clinical manifestations of esophageal cancer?
often asymptomatic until disease has advanced; dysphagia, chest pain, weight loss, halitosis, and hematemesis
What is the prognosis for esophageal cancer?
usually asymptomatic early, delaying identification and treatment; late diagnosis = poor prognosis
What is liver cancer?
(cancers of GI tract)
primary tumors are caused by chronic cirrhosis of the liver or hepatitis; most comply secondary tumor that metastasizes from the breast, lungs, or other GI structures
What are clinical manifestations of liver cancer?
often asymptomatic or produce mild symptoms; anorexia, nausea, vomiting, weight loss; abdominal pain (right upper quadrant of abdomen); enlargement of liver (hepatomegaly) and spleen (splenomegaly); jaundice, edema, ascites
What are the risk factors and prognosis for liver cancer?
more frequent in males, Asians, and Pacific islanders; 5 years survival rate is 17%
What is pancreatic cancer?
(cancers of GI tract)
aggressive malignancy that can quickly metastasize; adenocarcinoma - most common that invades nearby structures (stomach, intestines, spleen, liver, kidneys)
What are risk factors and prognosis for pancreatic cancer?
family history, obesity, chronic pancreatitis, long-standing diabetes mellitus, cirrhosis, alcohol abuse, and tobacco use; 5 year survival rate is 7% - cancer has metastasized quickly and no reliable screening tool
What are the clinical manifestations of pancreatic cancer?
progressive upper abdominal pain that may radiate to the back; jaundice, dark urine, clay-colored stools; indigestion, anorexia, weight loss; hyperglycemia, and increased clotting tendencies
What is colorectal cancer?
(cancers of GI tract)
most often develops from an adenomatous polyp; very common and fatal in the US and worldwide
What are risk factors and prognosis of colorectal cancer?
associated with excessive dietary intake of fat, calories, red meat, processed meat, and alcohol as well as decreased fiber intake; family history, advancing age, obesity, tobacco use, physical inactivity, and inflammatory bowel disease; overall 5 year survival rate is 90% when localized to large intestine - otherwise 65%
What are clinical manifestations of colorectal cancer?
often asymptomatic until disease is advanced; lower abdominal pain and tenderness, blood in the stool (occult or frank); diarrhea, constipation, often will notice a change in their normal bowel habits; intestinal obstruction, narrow stools; unexplained anemia (usually iron-deficiency), unintentional weight loss
What is the immune system?
body's defense against disease-causing organisms, malfunctioning cells, and foreign particles
What is immunocompetence?
intact/functioning immune system
What is the first line of defense?
skin, mucous membranes, secretions of skin and mucous membranes
How does the first line of defense work?
nonspecific; distinguishes self from non-self; does NOT distinguish between pathogens
How does the skin act as a first line of defense?
the dead, outer layer of skin (epidermis), forms a shield against invaders and secretes chemicals that kill potential invaders; she between 40-50 thousand skin cells every day
How does the mucus and cilia act as a first line of defense?
as you breathe in, foreign particles and bacteria bump into mucus throughout your respiratory system and become stuck; hair-like structures called cilia sweep this mucus into the throat for coughing or swallowing
What are other forms of the first line of defense?
oral cavity, respiratory cavity, GI tract, eyes, vagina
What is the second line of defense?
phagocytic WBCs, inflammatory response, pyrogens, interferons, complement proteins
How does the second line of defense work?
responds to antigens that penetrate the first line
How to WBCs act as the second line of defense?
if invaders actually get within the body, then WBCs begin their attack; WBCs normally circulate throughout the blood, but will enter the body's tissues if invaders are detected
What are cellular components of inflammation?
neutrophils: phagocytes, short life span
monocytes and macrophages: monocytes mature into macrophages, longer lifespan
eosinophils: allergic reaction, parasites
Which WBCs are involved in inflammation?
neutrophils, monocytes, and eosinophils
What is an inflammatory response?
provides immediate protection against the effects of tissue injury and "invaders"; ability of the body to mount an inflammatory response is critical to health and well-being; tissue damage may result from excessive inflammatory response
What begins an inflammatory response?
injured body cells release chemicals called cytokines (histamine)
What is involved in an inflammatory response?
capillaries dilate: leads to edema, mobilization of WBCs to the infected area; pyrogens are released, reach hypothalamus, and temperature rises (pyrogens elevate temperature); pain receptors activated; Was flock to infected area like sharks to blood
What are key characteristics of inflammatory response?
rapid, non-specific, includes cellular and chemical activity, triggered by mast cells - histamine release
What causes visible symptoms and can rid the body of harmful organisms?
What is the vascular phase of the second line of defense?
arterioles spasm and constrict; vasodilation; increased capillary permeability; white blood cells adhere to the inner walls of vessels
What are cardinal signs of inflammation?
erythema, heat, edema, pain, and altered function
What is the most important second line of defense?
What are benefits of inflammation for second line of defense?
limit and control tissue damage by preventing the spread of inflammation to healthy tissue, prevent and limit infection and further damage, initiate adaptive immune response, initiate healing
How do pyrogens work as a second line of defense?
released by macrophages, stimulates the hypothalamus, results in an increase in body temperature
How to interferons work as a second line of defense?
proteins released from cells infected by viruses, bind to receptors on the plasma membranes of uninfected cells, these uninfected cells produce an enzyme that inhibits viral replication, when virus enter the uninfected cell it cannot replicate and spread; DO NOT protect cells already infected - they STOP the spread
What are the major functions of complement proteins as a second line of defense?
embed in the plasma membrane of the bacterial cells and causes cells to swell, burst, and die; stimulate vasodilation in the infected area; increase permeability of vessels; chemotaxis - attracting macrophages, monocytes, and neutrophils to the infected area; bind to microbes and form a rough outer coat that promotes phagocytosis
What is the third line of defense?
How to antibodies act as the third line of defense?
most infections never make it past the first and second levels of defense, but those that do trigger the production and release of antibodies; each antibody binds only to one specific binding site, known as an antigen
What are antibodies?
proteins that latch onto, damage, clump, and slow foreign particles
How does the immune system act as a third line of defense?
it is specific, develops over time, uses memory system, distinguished self from non-self AND between pathogens, self-regulation and self-limiting, essential for survival, must be able to distinguish self from non-self, antigens
What are adaptive defenses for the third line defense?
T cells: thymus, attack antigen directly
B cells: bone marrow, produce antibodies
What are humoral defenses for the third line of defense?
immunoglobulins and mediated defenses
What is IgG?
main defense against bacteria; crosses the placenta to give passive immunity to fetus (lasts about 6 months); most abundant immunoglobulin
What is IgM?
first immunoglobulin it elevate; latest immunoglobulin; first Ig produced during the initial response to an antigen
What is IgA?
found in saliva, tears, and breast milk - give to baby via passive immunity; found in mucosal areas (gut, respiratory tract, and urogenital tract); prevents colonization
What is IgE?
involved in allergies and protects against parasitic worms; binds to allergens and triggers histamine realize from mast cells and basophils
What is mediated third line of defense?
different T cell classifications: Helper T cells (Th) - CD4
What is immunity?
resistance to a disease; two types: active and passive immunity
What is a form active immunity?
YOU produce the antibodies; your body has been exposed to the antigen in the past either through exposure to the actual disease-causing antigen (the body fought, won, and remembers) or planned exposure to a form of the antigen that has been killed or weakened (body detects, eliminated, and remembers)
How are vaccines involved in active immunity?
antigens are deliberately introduced into the immune system to produce immunity and because the bacterial has been killed or weakened, minimal symptoms occur; several diseases have been eradicated or severely limited, such as polio and smallpox
How long does active immunity last?
depends on the antigen; some disease-causing bacteria multiply into new forms that the body doesn't recognize, requiring annual vaccinations (flu shot); booster shot - reminds the immune system of the antigen; others last for a lifetime (chicken pox)
What is a form of passive immunity?
you DON'T produce the antibodies; a mother will pass immunities onto her baby during pregnancy through the placenta, these antibodies will protect the baby for a short period of time following birth while the immune system develops; lasts until antibodies die
What is hypersensitivity?
an inflated or inappropriate response to an antigen; can included allergy (exaggerated response to environmental agents), autoimmunity (response directed at one's own cells), and alloimmunity (response directed against beneficial foreign tissues - transplant reactions)
What is immediate hypersensitivity reaction?
occurs within minutes or hours, reactions initiated by Ab or Ab-Ag complexes; anaphlaxis - severe immediate reaction
What is delayed hypersensitivity reaction?
may take several hours, initiated by cell-mediated response, contact dermatitis and graft rejection
What is type I hypersensitivity?
Rapid Hypersensitivity Reaction - anaphlaxis
results from an increase in production of IgE antibodies; vary in severity and manner of exposure; local vs. widespread systemic reaction; examples: reactions to specific allergies such as latex, insect sting/bite, iodine, shellfish, nuts, drugs, etc.
What are neuro anaphylactic shock symptoms?
sensation of impending doom, anxiety, restlessness, drowsiness, seizures
What are respiratory anaphylactic shock symptoms?
hoarse voice, wheezing, stridor
What are cardiovascular anaphylactic shock symptoms?
hypotension, dysrhythmias, angioedema
What are gastrointestinal anaphylactic shock symptoms?
severe cramps, nausea, diarrhea
What can result in cardiac arrest and death without immediate intervention?
What is type II hypersensitivity?
tissue specific and immediate type reactions; IgG and IgM antibodies; lysis of blood cells occur because of the activation of the complement system; examples: blood transfusion reaction and erythroblastosis fetalis (hemolytic disease of the newborn)
What is type III hypersensitivity?
excess antigens produce immune complexes in the blood which may lodge in small vessels (kidney, skin, joints); circulating antigen-antibody complexes accumulate and are deposited in the tissue; triggers the complement system and inflammation; results in an inflammatory response that damages tissues and/or blood vessels; examples: Systemic Lupus Erythematosus (SLE), Rheumatoid Arthritis (RA)
What is the Raynaud phenomenon in type III hypersensitivity?
form of serum sickness - circulation to fingers/toes is blocked by immune complexes; trigger: temperature extremes; localized pallor, numbness, cyanosis
What is type IV hypersensitivity?
delayed reaction; cell-mediated tissue reaction rather than antibody mediated; examples: transplant reactions, tuberculin reactions, contact dermatitis
What happens in autoimmune disorders?
immune system losses the ability to recognize self, defenses are directed against host, can affect any tissue, mechanism that triggers this response is not clear
What are known characteristics of autoimmune disorders?
genetic play a role; more prevalent in females; onset is frequently associated with an abnormal stressor, either physical or psychological; frequently progressive, relapsing-remitting disorders characterized by period of exacerbation and remission
What is Systemic Lupus Erythematosus (SLE)?
chronic inflammatory condition; remission and exacerbations - stressors tend to trigger; may affect connective tissue of any body organ; disease progression varies from mild to severe; more common in women; cause is unclear, but thought that B cells are activated to produce autoantibodies and autoantigens that combine to form immune complexes, which attack the body's own tissues
What are signs/symptoms of Systemic Lupus Erythematosus?
mimics Rheumatoid Arthritis, photosensitivity, butterfly rash, alopecia; renal, hematologic, CV, pulmonary, neurologic, ocular, GI
What is immunodeficiency?
impaired function of one or more components of immune or inflammatory response; render the person susceptible to a disease that is normally prevented; opportunistic infections; hallmark: tendency to develop unusual or recurrent, severe infections
What is HIV/AIDS
AIDS is a deadly, sexual transmitted disease caused by the human immunodeficiency virus (HIV); destroys helper T cells (CD4) that regulate normal immune response; transmission: blood and bodily fluids
What are symptoms of HIV/AIDS?
swollen lymph glands; unususal lesions on the tongue, skin rashes, and bumps; nausea, vomiting, diarrhea; cough and shortness of breath; chronic fatigue; fever, chills, and night sweats; rapid weight loss; blurred or distorted vision
DD or Dd genotype are Rh-positve
dd genotype are Rh-negative
What is atrophy?
cell becomes smaller from underuse
What is hypertrophy?
cell becomes enlarged from overuse
What is hyperplasia?
cell stressor causes the number of the cells to be increased
What is metaplasia?
cell has all the right organelles, all the right size, but the shape of the cell changes
(this is worrisome because it might become cancer/dysfunctional)
What is dysplasia?
"pre-cancerous"; changes in the organelles (e.g., enlarged nucleus)
When does cell injury and death occur?
if the cell is unable to maintain homeostasis; may have reversible or irreversible injury
What is the #1 cause of death to a cell?
What is hypoxia?
deficiency of oxygen circulation
What causes hypoxia?
ischemia (reduced blood flow); cardiorespiratory failure; decreased O2 carrying capacity (anemia, carbon monoxide poisoning - hemoglobin prefers CO2 over O2; acute blood loss - leading to decrease in oxygen-carrying capacity)
What types of cell injury are physical agents?
mechanical trauma (crush injury, stabbing, GSW, car wreck); extremes in temperature (burns & extreme cold); sudden changes in atmospheric pressure; radiation; electrical shock
What types of cell injury are chemical agents and drugs?
glucose (it's more severe to have a low glucose than a high glucose); O2 at high concentrations (when a patient receives more than 60% of oxygen for more than 60 min., it starts to cause damage to cells); poisons; recreational drugs (alcohol effects liver, cocaine effects heart - vasoconstriction, clumps platelets); environmental pollutants
What types of cell injury are infectious agents?
virus/viral agents - the body doesn't recognize these, so there's no immune response
What types of cell injury are immunologic reactions?
autoimmune diseases (e.g., lupus)
What are other types of cell injury?
genetic derangements/mutations and nutritional imbalances
What is necrosis?
"cell homicide"; swelling of cytoplasmic organelles leads to rupture of plasma membrane; moderate chromatin condensation
What are the 6 types of necrosis?
What is coagulative necrosis?
infarcts to any tissue except the brain due to loss of blood/decreased blood flow (e.g., myocardial infarction - dead cells in heart); proteins denature and aggregate
What is liquefactive necrosis?
enzymatic digestion of cellular components; seen in infections and brain infarcts (if brain is involved, it MUST be liquefactive); due to lots of neutrophils around releasing their toxic contents, "liquefying the tissue"
What type of necrosis involves the brain?
What is caseous necrosis?
due to the body trying to wall off and kill the bug with macrophages; seen in tuberculosis and granuloma (starts in the lungs and spreads to the body, lesions brain, gut, liver); "cheese-like" appearance on the area of necrosis
What is fat necrosis?
immune reactions in vessels (vasculature injury); immune complexes (antigen-antibody complexes) and fibrin are deposited in vessel walls
What is gangrenous necrosis?
an entire limb loses blood supply and dies (usually the lower leg); skin looks black and dead; underlying tissue is in varying stages of decomposition
What type of necrosis is most obvious to the naked eye?
What is gangrene?
a condition that involves the death and decay of tissue, usually in the extremities due to loss of blood supply
What type of gangrene has no infection?
What type of gangrene has a bacterial infection?
What is apoptosis?
cellular suicide; rounding-up of the cell, retraction of pseudopods, reduction of cellular and nuclear volume, nuclear fragmentation, minor modification of cytoplasmic organelles, plasma membrane blabbing, engulfment by resident phagocytes
What are the two types of apoptosis?
physiological apoptosis and pathological apoptosis
What is physiological apoptosis?
hormone-dependent: endometrial cells shed on estrogen withdrawal, breast duct regression after weaning
neutrophils: (PMNs) disappear in acute inflammation
cytotoxic T-cells: eliminate virus-infected cells
What is pathological apoptosis?
radiation and anticancer drugs: damage DNA and apoptosis follows
hypoxia: apoptosis (if mild) or necrosis if the hypoxia is severe or prolonged
decreased cell death: lymphomas
virus related: EBV, HIV, HPV
What is increased apoptosis?
neurodegenerative diseases (Parkinson's disease, ALS); ischemia injury; death of virus-infected cells (hepatitis); AIDS (death of unaffected CD4 cells);
microorganisms include apoptosis
What is cancer?
body's cells begin to divide without stopping and spread to surrounding tissues; disease resulting in problems with growth, division, cell differentiation
What is malignant cancer?
tumors that can spread into, or invade, nearby tissues; as these tumors grow, some cancer cells can break off and travel to distant places in the body through the blood/lymph system and form new tumors far from the original tumor; these can grow back once removed
What is benign cancer?
tumors that do NOT spread into, or invade, nearby tissues; can sometimes be quite large and usually DON'T grow back once removed
What are some differences between cancer cells and normal cells?
cancer cells are less specialized than normal cells: normal cells mature into very distinct cell type with specific functions, cancer cells do not
cancer cells are able to ignore signals that normally tell cells to stop dividing or progress to apoptosis
cancer cells can influence the microenvironment and evade/hide from the immune system
tumors can use the immune system to stay alive and grow
What type of cells mature into very distinct cell types with specific functions?
What type of cells are able to ignore signals that normally tell cells to stop divided or progress to apoptosis?
What type of cells can influence the microenvironment?
What type of cells can evade/hide from the immune system?
What can use the immune system to stay alive and grow?
What is carcinoma?
most common type of cancer formed from epithelial cells
What are different types of carcinoma?
Adenocarcinoma, basal cell carcinoma, squamous cell carcinoma, transitional cell carcinoma
What is the most common type of cancer cell?
What is sarcoma?
caner of bone and soft tissue (muscle, fat, blood vessels, lymph vessels, & fibrous tissue); osteosarcoma is the most common cancer of bone (usually of the lower extremities)
What is the most common bone cancer (usually of the lower extremities)?
What is leukemia?
large number of abnormal WBCs (leukocytosis); begins in blood - forming tissue of the bone marrow; four types: ALL, AML, CML, CLL
What is lymphoma?
abnormal lymphocytes build up in lymph nodes and lymph vessels; symptoms are large, painless lymph nodes
What are two types of lymphoma?
Hodgkin lymphoma and Non-Hodgkin lymphoma
What are the 7 warning signs of cancer?
Change in bowel or bladder habits
A sore that does not heal
Unusual bleeding or discharge
Thickening or lump in breast or other area
Indigestion or difficulty swallowing (dysphagia/esophageal)
Obvious change in a wart or mole (most common with melanoma)
Nagging cough or hoarseness
How is pain a sign/symptom of cancer?
structure is enlarging and compressing another organ
How is fatigue a sign/symptom of cancer?
impacts the bone marrow
How is cachexia a sign/symptom of cancer?
deterioration, weight loss, loss of muscle mass
How is anemia a sign/symptom of cancer?
bone marrow is impacted
How is leukopenia/thrombocytopenia a sign/symptom of cancer?
loss of WBCs
How is infection a sign/symptom of cancer?
impacts immune system heavily
What is Stage 1 of cancer?
cancer is confined to the organ of origin; earliest stage of caner
What is Stage 2 of cancer?
cancer that is locally invasive
What is Stage 3 of cancer?
cancer that has spread to regional structures such as lymph nodes
What is Stage 4 of cancer?
cancer that has spread to distant sites; becomes metastasized; latest/worst stage of cancer
What is Tumor Staging?
the TNM staging system evaluates the tumor size, nodal involvement, and metastatic progress
What does TNM stand for?
T: primary tumor site; higher number means more extensive tissue invasion
N: node involvement; higher number means more nodes involved
M: presence of distant metastases
What is Stage 0 according to TNM staging?
a pollock - not in the cell
What is Stage 1 according to TNM staging?
cancer goes through the initial epithelium cells, but hasn't reached basement membrane or cell wall; pollock should be removed
What are tumor cell markers?
substances produced by both benign and malignant cells
What are tumor cell markers used for?
screen and identify individuals at risk for cancer, help diagnose the specific type of tumor in individuals, and follow clinical course of cancer
What is genetics?
study of heredity
What is congenital alterations?
birth defects; usually develop during the prenatal phase of life and are apparent at birth or soon after
What is a DNA molecule?
backbone of sugar and phosphate, composed to 2 polymers of nucleotides; the molecule resembles a spiral staircase fo complementary base pairs
What do genes to?
constitute distinct regions on the chromosome; each gene codes for a protein product - differences in proteins bring about differences between individuals (DNA - RNA - protein)
What are somatic cells?
all cells other than gametes;
46 chromosomes in 23 pairs;
22 pairs are autosomes;
1 pair is sex chromosomes
What are gametes?
sperm and ovum cells
What are haploid cells?
only one member of each chromosome pair; total of 23 chromosomes
What is a gene?
a unit of heredity that is transferred from a parent to offspring and is held to determine some characteristic of the offspring
What is an allele?
discrete version of the same gene
What is genotype?
the Genes of an organism for one specific trait
What is phenotype?
the Physical appearance of a trait in an organism
What is a dominant trait?
a genetic feature that "hides" the recessive trait in the phenotype of an individual
What is a recessive trait?
a trait that is covered over (or dominated)
What is homozygous?
two alleles that are the same for a trait (pure)
What is heterozygous?
two different alleles for a trait (hybrid)
What is a Punnett Square?
standard way of working out what the possible offspring of two parents will be; it is a helpful tool to show allelic combinations and predict offspring ratios
What is punnett square analysis?
predicts patterns of inheritance
Mendel developed what two basic rules of inheritance?
Law of Segregation and Law of Independent Assortment
What is the law of segregation?
reproductive cells carry only one copy of each gene
What is the law of independent assortment?
genes for different traits are separated from each other independently during meiosis; applies in most cases
Family pedigrees are used to do what?
determine patterns of inheritance and individual genotypes
What are inherited genetic disorders?
most mutations usually involve recessive alleles
Most sex-linked human disorders are due to what?
What are some examples of sex-linked human disorders?
hemophilia: red-green color blindness
Sex-linked human disorder traits appear mostly in males or females? Why?
males; if a male receives a single x-linked recessive allele from his mother, he will have the disorder; while a female has to receive the allele from both parents to be affected
A high incidence of hemophilia has plagued who?
the royal families of Europe
What is Marfan Syndrome?
a single gene mutation on chromosome 15 (autosomal dominant); elastin and collagen defects resulting in ocular, skeletal, and cardiovascular disorders
(ex: Michael Phelps, Abraham Lincoln)
What are signs/symptoms of Marfan Syndrome?
tall and slender build/ disproportionately long arms, legs, and fingers; breastbone that protrudes outward or dips down; high, arches palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine and flat feet
What are complications of Marfan Syndrome?
cardiovascular: aortic aneurysm, aortic dissection, valve malformations
eye problems: lens dislocation, retinal detachment (leads to blindness), early-onset glaucoma or cataracts
skeletal complications: spine, chest
What is Neurofibromatosis?
tumors that develop in the nervous system, neurogenic tumors arise from Schwann cells; there is no cure
What is type I neurofibromatosis?
results from a mutation on chromosome 17; usually appears in childhood, evident at birth or shortly thereafter
What are signs/symptoms of type 1 neurofibromatosis?
cafe au lait spots, freckling in armpits or groin area, Lisch nodules (tiny bumps on iris), neurofibromas, bone deformities, learning disabilities, optic glioma (tumor of the optic nerve), larger than average head size, short stature; neurological, skeletal, respiratory/CV, and vision problems; pheochromocytoma
(mild to moderate)
What is type 2 neurofibromatosis?
results from a mutation on chromosome 22, much less common than type 1, acoustic neuromas in both ears, signs/symptoms appear in late teen/early adult years
What are signs/symptoms of type 2 neurofibromatosis?
gradual hearing loss, ringing in the ears, poor balance, headaches, partial or total deafness, facial nerve damage, vision problems, weakness or numbness of extremities, meningiomas
What is Phenylketonuria (PKU)?
causes phenylalanine to build up in the body - dangerous buildup can develop when a person with PKU eats foods that contain protein (patient must be on a strict diet forever - first 4 years are the most vital); can eventually lead to serious health problems
What are signs/symptoms of Phenylketonuria (PKU)?
musty odor in the breath, skin, or urine; skin rash (eczema); seizures; microcephaly; intellectual disability; hyperactivity; delayed development; psychiatric disorders; behavioral, emotional, and social problems
What are complications of Phenylketonuria (PKU)?
irreversible brain damage, seizures and tremors, major health and developmental problems
What is Fragile X Syndrome?
Martin-Bell syndrome; most common hereditary cause of mental disability in boys; chronic disorder where FMR1 gene is true off and does not produce FMRP, which is essential for normal brain development
What are signs/symptoms of Fragile X Syndrome?
developmental delays, stuttering, intellectual and learning disabilities, impulsiveness, attention difficulties, autism, hyperactivity, seizures, depression, difficulty sleeping, large forehead or ears with prominent jaw, elongated face; protruding ears, forehead, and chin; loose or flexible joints; flat feet
What is Down Syndrome?
Trisomy 21; most common genetic chromosomal disorder and cause of learning disabilities in children; more likely to occur in offspring of women over 35 years of age
Which sex-linked disorder is most likely to occur in offspring of women over 35 years of age?
What are signs/symptoms of Down Syndrome?
flattened face, small head, short neck, protruding tongue, upward standing eyelids (palpebral fissures), unusually shaped or small ears, poor muscle tone; broad, short hands with a single crease in the palm; relatively short fingers and small hands and feet, Brushfield's spots
What are complications of Down Syndrome?
80% are born with heart defects (a hole in the heart), GI defects, immune disorders, sleep apnea, obesity, spinal problems, leukemia, dementia, seizures, ear infections; hearing, vision, and dental problems
What is Turner Syndrome?
XO: only one sex chromosome (1 X chromosome, no Y chromosome)
What are signs/symptoms of Turner Syndrome?
short, thick neck and stature; do not undergo puberty - no breathing development; cardiac and renal defects, ear infections, brown spots are noticeable at birth
What is Klinefelter Syndrome?
What are signs/symptoms of Klinefelter Syndrome?
testis and prostate are underdeveloped; no facial hair; breast development; long arms and legs, big hands and feet; can be mentally retarded; tends to be expressed violently: 40% of people in prison have this
What is anemia?
deficiency in the oxygen-carrying capacity of the blood due to a diminished erythrocyte mass
What can cause anemia?
erythrocyte loss (bleeding), decreased erythrocyte production, increase erythrocyte destruction
What causes a decrease in erythrocyte production?
low erythropoietin (people with kidney disease won't make enough) and decreased marrow response to erythropoietin
What is hemolysis?
an increase in erythrocyte destruction
What is the normal hemoglobin level for men?
14 - 18 mL/g
What is the normal hemoglobin level for women?
12 - 16 mL/g
Who might have higher hemoglobin counts?
patients living in high altitudes, smokers and patients living in areas with highly polluted air, endurance athletes
Who might have lower hemoglobin counts?
African-Americans have 0.5 - 1 g/dL lower hemoglobin than do Caucasians; elderly patients (slowed erythropoiesis); pregnant women (hemodilution because of 30% increased cardiac output)
Why are older adults more susceptible to anemia?
decreased blood volume, lower levels of plasma proteins, bone marrow produces fewer blood cells with age; lymphocytes become less reactive and lose immune function, antibody levels and responses are lower and slower, hemoglobin levels fall
What are some symptoms of anemia?
due to decreased oxygenation: tachypnea and tachycardia; exertion dyspnea; dyspnea at rest; fatigue; bonding pulses (4+ on scale); lethargy, confusion
due to decreased volume: fatigue, tachycardia, headaches, muscle cramps, postural dizziness (changing positions quickly), syncope (most significant than postural dizziness - can lead to fainting)
What will every patient with anemia be?
fatigued and pale (pallor)
What is the only low type of anemia deficiency?
What is iron-deficiency anemia?
loss of iron or inadequate intake of iron; the supply of iron necessary to produce hemoglobin is inadequate to see the demand of hemoglobin production
What causes iron-deficiency anemia?
blood loss (e.g., GI bleeders) and low dietary intake
What is mean corpuscular volume (MCV)?
80 - 100
If a patient has a MCV below 80, what does that result in?
What can iron-deficiency anemia manifest as?
PICA: the tendency to eat ice, clay, starch, crunchy materials
Where is iron absorbed?
What can iron-deficiency anemia present with?
beeturia (dark red urine), chelitis (sores around side of mouth), dysphagia (difficulty swallowing), and koilonychias of the nails (spooning of nails)
What are complications of iron-deficiency anemia?
mentation, immune response (increased risk for infection), heart & lung, and pregnancy
What is Folic Acid Deficiency Anemia?
RBCs are unable to mature because fo inadequate levels of folic acid/folate
What causes Folic Acid Deficiency Anemia?
diet (includes vitamins and what you take in), GI disease (chronic diarrhea), medication side effect, and over consumption of alcohol
What are signs and symptoms of Folic Acid Deficiency Anemia?
MCV of 120+, gray hair, mouth sores, tongue swelling (bright red tongue that hurts and may cause people to not eat as much)
What are complications of Folic Acid Deficiency Anemia?
decreased WBCs & platelets, and serious birth defects of spinal cord and brain (folic acid is important for the development of the neuro tube)
What is Pernicious Anemia?
results from a lack of intrinsic factor leading to inadequate absorption of vitamin B12
What are causes of Pernicious Anemia?
autoimmune, genetic, and ethanol related gastritis
Who is at risk for Pernicious Anemia?
type 1 diabetics, vegetarian (may have vitamin B12 problems), over 60 years old, and surgery
What are symptoms of Pernicious Anemia?
neuropsychiatric symptoms (psychiatric or neuro problems), spastic ataxia, psychosis, loss of vibratory sense, dementia, memory loss, peripheral neuropathy, depression, MCV greater than 120
What are complications of Pernicious Anemia?
gastric cancer; nerve damage; digestive tract problems (diarrhea, vomiting); memory problems, confusion, or other neurological symptoms; heart damage
What is Hemolytic Anemia?
excessive destruction of erythrocytes (RBCs) related to antibody-antigen reaction; disorder of immune system leading to destruction of erythrocytes
What are symptoms of Hemolytic Anemia?
jaundice (unconjugated bilirubin), splenomegaly & hepatomegaly, and dark urine (more bilirubin)
What is the only type of anemia that is jaundice instead of pale?
Who is more like to get an autoimmune disease?
What are complications with Hemolytic Anemia?
kidney failure, shock (due to blood loss); spleen and liver become enlarged (because they are trying to take in dead RBCs and recycle them)
What is Sickle Cell Anemia?
genetic type of hemolytic anemia where erythrocytes have an abnormal crescent or thick shape; the shape prevents the cells from traveling smoothly through vessels
Who is Sickle Cell Anemia most commonly found in?
African Americans; it is hereditary with no cure (autosomal recessive)
What are triggers that put Sickle Cell Anemics at high risk?
high altitude, dehydration, cold, and infection
What are complications of Sickle Cell Anemia?
arterial occlusion leads to infarcts (stroke, MI), pain crises (usually opioids manage pain), acute chest syndrome (a potentially life-threatening condition that causes chest pain, coughing, difficulty breathing, and fever)
What is Aplastic Anemia?
failure of bone marrow to produce blood components
What is Pancytopenia?
lack of erythrocytes, leukocytes, and platelets because of bone marrow suppression (associated with Aplastic Anemia)
What are causes of Aplastic Anemia?
chemotherapy, radiation, viruses, autoimmune disease, and toxins (some chemicals/drugs can cause bone marrow suppression)
What are symptoms of Aplastic Anemia?
skin rash, cold feeling in feet and hands, cardiovascular (dysrhythmia, heart failure), infection, bleeding
If a patient has cold hands and feet, what could the be a symptom of?
What will the blood count blood like in a person with Aplastic Anemia?
normal MCV with low hemoglobin
What is Polycythemia vera?
bone marrow produces too many RBCs (only one that has higher than gender specific hemoglobin values)
Which disorder of RBCs has higher than gender specific hemoglobin values?
What causes Polycythemia vera?
Who is at risk for Polycythemia vera?
elderly, diabetes, hypertension, smoking, and elevated cholesterol
(the last 4 are important for heart disease)
What are symptoms fo Polycythemia vera?
enlarged spleen (splenomegaly), mucous membranes are reddened, bloodshot eyes, palms are deep red color (erythema)
What is a complication of Polycythemia vera?
thrombosis (increased risk of clotting)
What is Thalassemia?
RBCs are fragile, thin, and form defective hemoglobin; defect in either the alpha or beta chains of hemoglobin, leading to ineffective erythropoiesis and hemolysis
Where is alpha-thalassemia prevalent?
Africa, Mediterranean, Middle East, Asia
Where is beta-thalassemia prevalent?
Mediterranean, Southeast Asia, India, and Pakistan
What are symptoms of Thalassemia?
bone deformities, especially in the face; dark urine; delayed growth and development; excessive tiredness and fatigue; yellow or pale skin
What is a complication of Thalassemia?
What is Mononucleosis?
"kissing disease"; caused be Epstein-Barr virus (EBV) which elevates monocyte count
What are symptoms of Mononucleosis?
fatigue, sore throat, swollen glands (adenopathy), and high fever
What are complications of Mononucleosis?
secondary infection (strep throat, sinus infections, tonsillitis), splenomegaly (physical limitations to prevent spleen rupturing), hepatitis, cardiac inflammation, meningitis/Guillain-Barre (inflammation of the ear around the brain and spinal cord; viral vs. bacterial - can be life threatening)
What is Leukemia?
too many WBCs that aren't mature; malignant neoplasms of blood-forming organs because fo abnormal production of immature leukocytes
How can Leukemia be classified?
acute (affects children, progresses rapidly and may be fatal)
chronic (older adults, often asymptomatic, and may not be lethal)
What is Myelogenous Leukemia?
affecting bone marrow
What is Lymphocytic Leukemia?
affecting lymph nodes
What is Acute Lymphocytic Leukemia (ALL)?
ALL CHILDREN; MOST PROMINENT IN CHILDREN (only 10% of adult-onset leukemia); responds well to therapy and carries a good prognosis
What is Acute Myelogenous Leukemia (AML)?
most common ADULT-onset acute leukemia; has 8 subtypes (most common is acute promyelocytic leukemia (APL), which is most curable AML and is most common in ADULTS); responses fairly well to treatment
What is Chronic Lymphocytic Leukemia (CLL)?
most common type of chronic leukemia; appears to be associated with genetic predisposition; greatest incidence in people over 50; survival times less than 19 months for advanced stage // less than 10 years for early stage; responds poorly to treatment
What is Chronic Myelogenous Leukemia (CML)?
20% of adult-onset leukemia; greatest incidence in people over 50; Philadelphia chromosome abnormality in all leukemic cells
What is the hallmark of Chronic Myelogenous Leukemia (CML)?
Philadelphia chromosome (may also be present in ADULT ALL)
What are neurological symptomsof Leukemia?
fatigue, headache, and fever
What are cardiovascular symptoms of leukemia?
tachycardia at basal activity levels (viscosity of blood), may have murmurs of bruits, slow capillary refill, orthostatic hypotension, and palpitations
What are respiratory symptoms of leukemia?
dyspnea on exertion
What are GI symptoms of Leukemia?
bleeding gums, nausea, anorexia, weight loss, reduced bowel sounds, constipation, enlarged liver/spleen (leukemia cells trapped)
What are renal symptoms of Leukemia?
hematuria (blood in urine)
What are musculoskeletal symptoms of Leukemia?
marrow is damaged and bone reabsorbs, which causes bone pain and joint swelling/pain
What are integumentary symptoms of leukemia?
ecchymoses, petechiae, open infected lesions, and pallor of conjunctivae/nail beds/palmar creases and around mouth
What are complications of leukemia?
severe infection and tumor lysis syndrome
What is Hemophilia A?
x-linked hereditary bleeding disorder; lack protein necessary for clot formation - Factor VIII deficiency; male children with disease from asymptomatic mothers
What is the most common type of Hemophilia?
What is Hemophilia B?
x-linked recessive; Factor IX deficiency
What is Von Willebrand's Disease?
deficiency in clotting factor and platelet function; also called angiohemophilia; hereditary; affects females and males
Out of the three types of Von Willebrand's Disease, which is the most serious?
What are symptoms of Von Willebrand's Disease?
easy bruising, excessive nose bleeds, bleeding from the gums; abnormally heavy bleeding during menstruation
What are complications of Von Willebrand's Disease?
anemia (iron deficiency anemia); swelling and pain, if abnormal bleeding occurs in the joints and soft tissue; death from hemorrhage
What is Thrombocytopenia?
decrease in platelets, leading to inability to normally clot blood; less than 150,000 platelets
All patients with Thrombocytopenia will be symptomatic once they reach what?
less than 80,000 platelets
When does spontaneous bleeding occur for patients with Thrombocytopenia?
at 20,000 platelet count
(patient would then be given platelets)
What are symptoms of Thrombocytopenia?
petechiae; abnormal bleeding in skin, mucous membranes, and internal organs; ecchymoses; GI hemorrhages; epistaxis; hematuria
What is Disseminated Intravascular Coagulation (DIC)?
widespread coagulation inside the vasculature; abnormal clotting followed by abnormal bleeding; clotting/bleeding leads to ischemia
What usually follows major trauma such as complicated childbirth, surgery, tissue destruction, septicemia, snakebites, or shock?
Disseminated Intravascular Coagulation (DIC)
Who is at a high risk for Disseminated Intravascular Coagulation (DIC)?
patients with multiple births, oncology, massive trauma, long surgical procedures, septic patients
What are symptoms of Disseminated Intravascular Coagulation (DIC)?
petechiae, ecchymosis, hematoma, hematuria, GI bleeding
What is life threatening and has a 40% - 60% mortality rate?
Disseminated Intravascular Coagulation (DIC)
What are complications of Disseminated Intravascular Coagulation (DIC)?
hypovolemic shock, acute renal failure, infection, ARDS (acute respiratory distress syndrome)
If a patient is O-, who can they not receive from?
A or B antigens
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