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What are 4 known causes of developmental disorders and what might they result in?
- Fetal alcohol syndrome: Growth retardation, Facial abnormalities ( maxillary hypoplasia, etc.), Mental retardation
- Rubella: Microcephaly, Microphthalmia, Cardiac defects
- Thalidomide
- Radiation exposure
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Klinefelter syndrome
- 47, XXY - Tall male, infertile, testicular atrophy
- Genetic chromosomal abnormality
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Turner syndrome
45, X - Short female, web neck, infertility, streak gonads
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Down syndrome
Trisomy 21; Congenital heart disease (40%), 15x increase in risk for leukemia; male infertility; Early Alzheimer changes in CNS
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Marfan syndrome
- defective fibrillin protein—think of Abe Lincoln Floppy valve syndrome; dissecting aortic, aneurysms; Eye disorders (cataracts, detached retina)
- Autosomal dominant
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Ehler Danlos syndrome
- Think rubber man—hypermobility and hyper-elasticity; Defect in collagen gene; fragility of blood vessels
- Autosomal dominant
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Osteogenesis imperfecta
- Defect in collagen type 1; bones break easily; Can have blue sclerae; dentinogenesis imperfecta
- Autosomal dominant
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Achondroplasia
- dwarfism (short limbs); defect in endochondral ossification, affects long bones; mutation of gene encoding the receptor for fibroblast growth factor
- Autosomal dominant
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Adult polycystic kidney disease
- gene on chromosome 16; progressive cystic dilation of renal tubules which become non-functional—renal failure in 3rd or 4th decade.
- Autosomal dominant
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Huntington disease
- Expanded CAG nucleotide repeat chromosome 4; Progressive dementia, chorea (involuntary movements), and affective outbursts.
- Autosomal dominant
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Familial hypercolesterolemia
Low density lipoprotein cannot be removed from circulation leading to accelerated atherosclerosis and deposits of cholesterol in tissues (xanthomas)
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Cystic fibrosis
most common lethal autosomal recessive disorder of humans; almost exclusively affects Caucasians; involves the lack of transport of chloride across the cell membrane; affects bronchial glands (mucus buildup) and pancreas (dilation of ducts with thick mucus leading to pancreatic fibrosis), decreased function, and malabsorption of nutrients due to deficiency of digestive enzymes)
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PKU
high serum phenylalanine; mental deterioration
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Lysosomal storage diseases
- Tay Sachs---hexosaminidase deficiency
- Gauchers---Glucocerebrosidase deficiency
- Nieman Pick—Sphingomyelinase deficiency
- Hurlers—alpha-L-Iduronidase deficiency
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What are the main causes of Esophagitis?
- Reflux of stomach acid (GERD)
- Over-eating
- Smoking-alcohol
- Autoimmune diseases with epithelial sloughing
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What are the complications associated with Esophagitis?
- Peptic ulcers
- Esophageal strictures (causes difficulty swallowing)
- Barrett’s esophagus - Metaplasia of squamous epithelium to columnar glandular epithelium; predisposes to development of adenocarcinoma
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Esophageal carcinoma types and prognosis
Squamous cell--upper 2/3rds--most common worldwide Adenocarcinoma-lower 1/3 --about 50% of cases in US Prognosis: 5% five year survival
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Achalasia
- Lack of neural ganglion cells
- Symptoms: difficulty swallowing; esophageal spasms; regurgitation
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Esophageal webs and strictures
Causes difficulty swallowing
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Hiatal hernia
- most common--stomach herniates through diaphragm into esophagus
- Complication of portal hypertension/ liver cirrhosis (often due to Hepatitis C)
- Rupture causes life-threatening bleeding
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Paraesophageal hernia
- herniates alongside the esophagus varices
- Complication of portal hypertension/ liver cirrhosis (often due to Hepatitis C)
- Rupture causes life-threatening bleeding
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Mallory Weiss syndrome
Esophageal laceration due to vomiting; seen in alcoholics
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Zenkers diverticulum
blind pouch in esophagus just above esophageal sphincter; dysphagia (difficulty swallowing)
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Pyloric stenosis
- Congenital or acquired; 1 in 1000 births;
- Causes difficulty in passage of food; projectile vomiting
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Acute gastritis
- Superficial inflammation of stomach
- Due to NSAIDS, alcohol, aaspirin
- Can be erosive may vomit up blood (Hematemesis)
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Chronic Gastritis
- More common with age
- 3 causes: Infectious--Helicobacter, Autoimmune---causes pernicious anemia-antibodies or intrinsic factor or parietal cells; achlorhydria (lack of gastric acid secretion), Reactive--post partial gastrectomy
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Morphology of Helicobacter gastritis/ infections
- Mucin layer depletion
- Atrophy of gastric glands
- Mixed inflammatory infiltrates
- Intestinal metaplasia
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Peptic ulcers
- Ulcers of esophagus, stomach, and/or duodenum
- Multifactorial etiology: Helicobacter; stress, NSAIDs, radiation, vascular insufficiency, smoking, primary hyperparathyroidism
- Complications: hemorrhage, adhesions, perforation, strictures
- NOT a precursor to carcinoma
- Zollinger-Ellison syndrome: peptic ulcers secondary to Gastrin secreating pancreatic tumor
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Gastric adenocarcinoma
- Not common in US---more common in Asia, Scandinavian countries; more frequent with Blood type A
- Aggressive: tends to spread to adjacent organs
- Risk factors: smoked foods, chronic gastritis, H pylori
- Bilateral involvement of the ovaries by metastatic stomach cancer is called a Krukenberg tumor
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Stomach lymphomas are typically of what variant?
- MALT (mucous-associated lymphoid tissue)
- Originates from B cells in the marginal zone of the MALT
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Meckels Diverticulum
Most common anomaly of small intestine; Rules of twos; can be complicated with ulceration
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Crohns disease
- Chronic inflammatory condition of any part of GI tract;
- Skip lesions of involvement
- Young people 2nd and 3rd decades
- Symptoms: pain diarrhea, fever
- Transmural inflammation
- Strictures; fistulae, non-caseating granulomas
- Linear ulcerations; cobblestone appearance
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Ulcerative colitis
- Limited to large bowel; continuous progression from rectal area
- Crypt abscess; pseudopolyps; red granular appearance to colon mucosa involved
- Not Transmural-shallow ulceration; can have extra-intestinal manifestation also such as polyarthritis
- Chronic diarrhea with passage of blood and mucus; cramping
- Complications: Colon cancer risk increased; perforation
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Steatorrhea
malabsorption syndrome resulting in fatty stools
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Celiac disease
- gluten (gliadin) sensitivity; villous atrophy, flat mucosa; chronic inflammation; growth retardation--failure to thriveMalabsorption syndrome
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Whipple's disease
- small intestine; Tropheryma whippeli bacillus in PAS positive macrophages; arthralgias, cardiac, neurologic symptoms
- Malabsorption syndrome
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Hirshsprung's disease
Dilation of colon (megacolon) and absence of ganglion cells; always involves the rectal area; constipation/ blockage
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Entamoeba histolytica
flask shaped ulcers in colon; liver abscesses
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Which type of intestinal polyps are most likely to have malignant transformation?
Villous adenomas (they are also the least common type of polyp)
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What are 3 examples of multiple polyposis syndrome?
- Gardner syndrome
- Familial polyposis
- Turcot syndrome
- (all have very high malignant potential)
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What are the predisposing factors for colon cancer?
- Adenomatous polyps
- Inherited polyposis syndrome
- Longstanding ulcerative colitis
- Genetic factors
- Low fiber, high animal fat diet
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Volvulus
twisting of the bowel
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Intussusception
telescoping of the bowel; mostly occurs in kids <4
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Herniation
protrusion of bowel from its normal position through a defect in the abdominal cavity wall
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Diverticula
Blind pouches in colonic wall; can be due to lack of fiber
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Diverticulitis
Inflammation of diverticula; colicky pain; rectal bleeding
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Viral Hepatitis
ballooning degeration; hepatocytes necrosis (Councilman bodies); Piecemeal necrosis in chronic hepatitis; Ground glass hepatocytes-Hepatits B;
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Alcoholic hepatitis
fatty change, focal liver cell necrosis, neutrophil infiltrates; Mallory bodies
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Hep A
no carrier state; no relation to cancer; oral fecal transmission
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Hep B
most infectious of the bloodborne Hepatitis virus
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Hep C
85% proceed to chronic infection
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Hep D
Requires Hep B presence to infect
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Hep E
transmitted oral fecal like Hep A
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How do you detect/determine if someone is a hepatitis carrier?
HBsAg in serum more than 6 months
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Cirrhosis
- Associated with higher incidence of hepatocellular carcinoma
- Many types of cirrhosis
- Primary biliary cirrhosis due to autoimmune origin; anti-mitochondrial antibodies; middle aged women; severe obstructive jaundice, itching, elevated cholesterol
- Secondary biliary cirrhosis due to extrahepatic biliary obstruction; bile stasis
- Alcoholic cirrhosis: starts with fatty change (steatosis); can proceed to inflammation with necrosis and Mallory bodies; can finally proceed to cirrhosis
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Hemochromatosis
- excess iron absorption and severe iron overload;
- autosomal recessive; increased serum iron and transferrin
- Can cause cirrhosis
- Bronze diabetes=triad of diabetes mellitus, cirrhosis, and increased skin pigmentation
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Hemosiderosis
local or systemic deposition of hemosiderin without organ damage
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Wilson's disease
- Autosomal recessive disorder of copper metabolism
- Decreased serum ceruloplasmin
- Kayser Fleischer rings in cornea
- Liver disease ranging from chronic hepatitis to cirrhosis
- Involvement of basal ganglia---motor signs
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Alpha 1 antitrypsin deficiency
- One of the most common causes of childhood cirrhosis
- Inability to inhibit protease enzymes
- Can have effects on lungs and liver
- Increased risk for hepatocellular carcinoma
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Adenomas of liver
- Benign tumor
- Related to oral contraceptive use
- Rupture can result in severe hemorrhage
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Hepatocellular carcinoma
- Most common Primary malignancy of liver
- Associated with cirrhosis (especially HBV and HepC)
- Aflatoxin B exposure
- Increased serum alpha fetoprotein
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Hemangiosarcoma
associated with thorotrast dye, arsenic, or polyvinyl chloride
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What is the most common malignancy of the liver?
Metastatic malignancy
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Acute Pancreatitis
- Predisposed by alcohol intake and gallstones
- Increased serum amylase
- Severe abdominal pain
- Hypocalcemia
- 20% mortality
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Chronic pancreatitis
- Progressive parenchymal fibrosis
- Associated with alcoholism/cholecystitis
- Can have calcifications
- May have pseudocysts
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Pancreatic carcinoma
- Most often in the head of pancreas
- Causes obstructive jaundice
- Abdominal pain radiating to the back
- Poor prognosis; early metastases
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Gallstones
- Five F’s (female, fertile, fat, over age forty, flatulent)
- Most are cholesterol/ calcium stones in U.S.
- Attacks often precipitated by a fatty meal
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Type 1 Diabetes
- Also called juvenile diabetes—begins early in life usually before age 30; sudden onset
- Due to a failure in insulin synthesis by Beta cells of pancreatic islets
- May be caused by a genetic predisposition complicated by autoimmune inflammation (destroys Beta cells) triggered by a viral infection or environmental factors
- Unless insulin is replaced: Carbohydrate intolerance with hyperglycemia; polyuria, polydipsia, weight loss despite increased appetite
- Can lead to ketoacidosis, coma, and death
- TYPE 1:Usually before age 30
- Sudden onset
- Normal body weight
- HLA associations; familial history < 20%)
- Antibodies to beta cells
- Inflammation (insulitis), loss of Beta cells, fibrosis
- Reduced serum insulin levels
- 90% exhibit complication of diabetes with 20 years
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Type 2 diabetes
- Characteristically begins in middle age
- Due to increased insulin resistance
- Gradual onset
- Etiologic factors: Positive family history, High concordance among twins, Mild to moderate obesity
- Clinical/LAB: Normal to increased serum insulin, Mild carbohydrate intolerance, Ketoacidosis is unusual —precipitated by infection or surgery
- Usually after age 30
- Gradual onset
- Obese
- No HLA assoc.; familial history more common (60%)
- No antibodies
- Non-specific islet changes and amyloidosis
- Normal to elevated serum insulin
- Less common to have complications than type 1 diabetes
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Anatomic changes in the kidney seen with diabetes
- Increased thickness of GBM/ more permeable
- Diffuse glomerulosclerosis/ Kimmelsteil Wilson disease
- Arteriolar lesions
- Pyelonephritis/ papillary necrosis
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Anatomic changes to cardiovascular seen with diabetes
- Increased atherosclerosis
- Myocardial infarctions more common
- Peripheral vascular insufficiency
- Gangrene of extremities
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Anatomic changes to the eye seen with diabetes
- Cataracts more common
- Diabetic (proliferative) retinopathy-exudates, microaneurysms
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Anatomic changes to the nervous system seen with diabetes
Peripheral neuropathy—numb toes and other woes
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Anatomic changes seen in the liver with diabetes
Fatty changes
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Anatomic changes to the skin seen with diabetes
- Xanthomas
- Abscesses/ fungal lesions - increased tendency toward infection
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