DISEASE AND CAUSES
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PATHOPHYSIOLOGY
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SIGNS AND SYMPTOMS
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Galactosemia
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- Inherited autosomal recessive defects
- Inability to metabolize galactose
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Galactose-1-phosphate and galactose accumulates in the tissues leading to decreased hepatic output of glucose and hypoglycemia. |
- Vomiting and diarrhea
- Jaundice and hepatomegaly
- Mental retardation, malnourishment, progressive hepatic failure, and death
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Gallbladder and bile duct carcinoma
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- Rare cancer in patients with cholecystitis
- Rapidly progressive and fatal
- Cause of extrahepatic bile duct carcinoma unknown
- Presents with ulcerative colitis
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Direct extension to liver, cystic and common bile ducts, stomach and colon causes obstructions and consequent progressive, profound jaundice and epigastric and right upper quadrant pain. |
Difficult to distinguish from cholecystitis
- Pain in epigastrium or upper right quadrant
- Weight loss, anorexia
- Nausea, vomiting, and jaundice
- Pruritus, skin excoriations, chills, and fever
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Gas gangrene
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Local infection in devitalized tissue due to
Clostridium perfringens
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Bacteria produce hydrolytic enzymes and toxins that destroy connective tissue and cellular membranes and cause gas bubbles to form in muscle cells. Enzymes also lyse RBC membranes, destroying their oxygen-carrying capacity. |
- Myositis and soft-tissue anaerobic cellulitis
- Crepitus
- Severe localized pain, swelling, and distortion
- Bullae and necrosis form after 36 hours
- Skin over wound may rupture, exposing dark red or black necrotic muscle and a foul-smelling watery or frothy discharge
- Intravascular hemolysis
- Thrombosis of blood vessels
- Toxemia
- Hypovolemia
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Gastric cancer
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- Cause unknown; often associated with gastritis resulting from gastric cancer
- May be genetic in people with type A blood
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An increase in nitrosoamines damages the DNA of mucosal cells, promoting metaplasia and neoplasia. |
In early stage:
- Chronic dyspepsia and epigastric discomfort
In later stage:
- Weight loss, anorexia, fullness after eating, anemia, and fatigue
- Dysphagia, vomiting, and blood in stool
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Gastritis
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- Chronic ingestion of irritating foods, aspirin, other nonsteroidal anti-inflammatory agents, caffeine, corticosteroids, and poisons and endotoxins released by infecting bacteria
- Chronic gastritis associated with peptic ulcer disease or gastrostomy, causing chronic reflux of pancreatic secretions
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An acute or chronic inflammation of gastric mucosa produces mucosal bleeding, edema, hemorrhage and erosion. |
Onset rapid following ingestion
- Epigastric discomfort, indigestion, cramping, anorexia, nausea, vomiting, and hematemesis
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Gaucher's disease
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- Autosomal recessive disease caused by decreased activity of the enzyme glucocerebrosides
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The most common lipidosis, causes an abnormal accumulation of glucocerebrosides in reticuloendothelial cells and results in infiltration of the bone marrow, hepatomegaly, and skeletal complications. |
Key signs include hepatosplenomegaly and bone lesions.
In type I:
- Thinning of cortices, pathologic fractures, collapse of hip joints, vertebral compression, severe episodic and pain in legs, arms, and back
- Fever, abdominal pain, respiratory problems, easy bruising and bleeding, and anemia
In type II:
- Motor dysfunction and spasticity at 6 to 7 months
- Strabismus, muscle hypertonicity, retroflexion of head, neck rigidity, dysphagia, laryngeal stridor, hyperreflexia, and seizures
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Giant cell arteritis
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- Immune-mediated process
- Possible infectious etiology
- Genetic factors apparent with HLA-DR4 genotype; twice as common in women; incidence increases sharply with age
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Lymphocytes, plasma cells, and multinucleated giant cells infiltrate affected vessels. Patchy or segmental changes overcome the medium and large arteries of the head and neck and may extend into the carotids and aorta. A cell-mediated immune response directed toward antigens in or near the elastic tissue component of the arterial wall may account for this disorder. |
- Continuous, throbbing temporal headache
- Ischemia of masseter muscles, tongue, and pharynx
- Necrosis and ulceration of scalp
- Ocular or orbital pain
- Transient loss of vision, visual field defects, blurring, and hallucinations
- Tender, red, swollen, and nodular temporal arteries with diminished pulses
- Sudden blindness
- Pale, swollen optic disk surrounded by pericapillary hemorrhage
- Depression, weight loss, and fever
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Gilbert's disease
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- Genetic defect resulting in reduced bilirubin UDP-glucuronosyltransferase-1
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Impaired hepatic bilirubin clearance results in hyperbilirubinemia. |
- Mild jaundice without dark urine
- Nausea and vomiting
- Portal hypertension, ascites, and skin or endocrine changes
- Abdominal pain, anorexia, and malaise
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Globoid cell leukodystrophy
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- Galactosylceramidase deficiency
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Deficiency leads to rapid cerebral demyelination with large globoid bodies in the white matter and CNS. |
- Irritability, rigidity, blindness, tonic-clonic seizures, deafness, and mental deterioration
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Goodpasture's syndrome
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- Cause unknown; associated with exposure to hydrocarbons or type 2 influenza
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Abnormal production of autoantibodies directed against alveolar and glomerular basement membranes leads to immune-mediated inflammation of lung and kidney tissues. |
- Bloody sputum
- Anemia
- Cough
- Dyspnea
- Hematuria
- Peripheral edema
- Elevated serum creatinine and protein levels
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