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The Digestive System - Mrs Frank Science Wiki
The Digestive System - Mrs Frank Science Wiki

... absorbs most of the water in the mixture that has entered its realm and changes the liquid into waste material called feces, or stool. Whole grains, fruits, and vegetables contain a carbohydrate called cellulose, otherwise known as fiber. Humans cannot digest cellulose. Fiber keeps the stool soft an ...
Inborn errors of metabolism – Small molecule disease Intro
Inborn errors of metabolism – Small molecule disease Intro

... hydroxylase, an enzyme that converts phenylalanine to tyrosine. Treatment is lifetime phenylalanine restriction. Most children are normal at birth, but the hallmark is severe intellectual disability if untreated. And, unlike many other ‘small molecule’ diseases, Developed by Dustin Jacobson and Dr. ...
The Liver Lecture (PowerPoint)
The Liver Lecture (PowerPoint)

Diseases - Website of Neelay Gandhi
Diseases - Website of Neelay Gandhi

... structural abnormality in β-globin Hemolytic and painful vaso-occlusive crises => pain in bones, chest and abdomen Mechanism cannot tolerate high protein concentrations when deoxy Forms long filamentous polymers that readily precipitate Mutation is Glu6β to Val (charged to hydrophobic) Valine intera ...
Diapositiva 1
Diapositiva 1

... • Large amount of blood flow throughout this organ • Controls both metabolic (larger to smaller molecules and anabolic reactions (smaller to larger molecules ...
40_Biochemical functions of liver
40_Biochemical functions of liver

... [1] In the resting state, the heme iron is trivalent. Initially, the substrate binds near the heme group. [2] Transfer of an electron from FADH2 reduces the iron to the divalent form that is able to bind an O2 molecule. [3] Transfer of a second electron and a change in the valence of the iron red ...
Trace Elements Table
Trace Elements Table

Animal Nutrition and Digestive System
Animal Nutrition and Digestive System

... and alcohol consumption. Prolonged heavy consumption of alcohol can cause damage to the liver, varying from mild to severe, and fat build up. If diagnosed with cirrhosis, one should not drink any alcohol. Hepatitis damages the liver over a long period of time, possibly causing cirrhosis if not caugh ...
The Digestive System - Mounds Park Academy Blogs
The Digestive System - Mounds Park Academy Blogs

... produce insulin. • For some reason, which seems to have a genetic tendency, these cells stop producing insulin in some people. • This usually occurs in young children and teens. • This is called Juvenile onset Diabetes.(Type 1 Diabetes) • These people afflicted with this disease will need to take in ...
Protein synthesis in the Liver and the Urea Cycle
Protein synthesis in the Liver and the Urea Cycle

... upregulation in the order of 20 times has been demonstrated. This can be due to either increased intake as with body builders – high protein low fat diets - or in starvation because muscle proteins are being broken down with the amino acid carbon skeletons providing the energy. Thus the amount of am ...
Measurement of Enzymes and Their Clinical Significance
Measurement of Enzymes and Their Clinical Significance

... Alkaline Phosphatase (ALP) • ALP frees inorganic phosphate from an organic phosphate monoester, resulting in the production of an alcohol at an alkaline pH • Maximum activity at pH of 9.0- 10.0 ...
Hepatitis
Hepatitis

Arsani William - Cystic Fibrosis
Arsani William - Cystic Fibrosis

... TESTING  ...
Inborn Errors of Metabolism: Disorder of Adults?
Inborn Errors of Metabolism: Disorder of Adults?

... evaluated? There are four parts to the evaluation of an IEM: A. History, family history: One of the most important clue is a history of deterioration after an initial period of apparent good health ranging from hours to weeks. Developmental delay, particularly missing milestones may be present. Ano ...
Examination and Assessment of the Pediatric Patient
Examination and Assessment of the Pediatric Patient

... imbalance in the substances that make up bile. For instance, cholesterol stones may develop as a result of too much cholesterol in the bile. Another cause may be the inability of the gallbladder to empty ...
Chapter 5: Digestive System - respiratorytherapyfiles.net
Chapter 5: Digestive System - respiratorytherapyfiles.net

... imbalance in the substances that make up bile. For instance, cholesterol stones may develop as a result of too much cholesterol in the bile. Another cause may be the inability of the gallbladder to empty ...
Nutrition and Crohn`s Disease
Nutrition and Crohn`s Disease

... There is no special diet for people with Crohn’s disease; nor are there dietary factors known at this time to worsen or cause an increase in disease activity. Rather, the recommended diet for Crohn’s disease is a balanced diet focusing on adequate calories, protein, vitamins, minerals, and fluid. Th ...
AADC Gene Therapy for Parkinson`s Disease
AADC Gene Therapy for Parkinson`s Disease

... increase dopamine production in the brain. It is the third study of its kind. The study will also assess the effect of the treatment on clinical tests, such as mobility. •What is AADC? AADC is an enzyme in the brain that converts levodopa into dopamine which the brain can use to improve Parkinson’s ...
AAO 2008 Grand Rounds Outline
AAO 2008 Grand Rounds Outline

... i. Ocular manifestations are frequently the first sign of demyelinating disease. Optic neuritis is most commonly associated, but ocular misalignment, ...
Genetics and Inborn Errors of Metabolism and Failure to Thrive
Genetics and Inborn Errors of Metabolism and Failure to Thrive

... • A form of hyperphenylalaninemia, defined as plasma phenylalanine value above 120 uM (2 mg/dl). • Untreated, PKU can result in severe to profound mental retardation and behavioral difficulties. The severity of the disease can vary with each affected person. • Mild or moderate PKU are less severe fo ...
Anatomical changes - University of Washington School of Nursing
Anatomical changes - University of Washington School of Nursing

Spring 2014 Exam 1 OMSI CLIs 2-7
Spring 2014 Exam 1 OMSI CLIs 2-7

... Tumors of the intestine grow into the lumen and are subjected to repeat trauma by the fecal stream The friable neovascular tumor ulcerates and bleeds Guaiac chemistry (most common) performed on the stool to detect blood peroxidase-like activity of hgb, which catalyzes reaction of peroxide and a chro ...
View Sample Report
View Sample Report

... Fasano, A. (2012) Zonulin, regulation of tight junctions, and autoimmune diseases. Annals of the New York Academy of Sciences. Vol.1258(1):25-33. Pacifico, L; Bonci, E; Marandola, L et al. (2014) Increased circulating zonulin in children with biopsy-proven nonalcoholic fatty liver disease. World Jou ...
When & How To Do a Basic Neurologic Evaluation of Your Patient
When & How To Do a Basic Neurologic Evaluation of Your Patient

... Family History ’ Similar condition ’ Eye diseases ’ Medical problems Ex: Leber’s, migraines, MS, have genetic predispositions and should be considered. ...
Degenerative Changes in the Cerebral Cortex in
Degenerative Changes in the Cerebral Cortex in

... diffusion due to cerebral edema combined with occlusive pressure on cerebral blood vessels has been proposed to account for some of the degenerative changes [Fell, 1987]. It has also been suggested that decreased activity of copper containing enzymes contribute largely to the pathophysiology of the ...
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Wilson's disease



Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, the child may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older people have been described. Wilson's disease occurs in 1 to 4 per 100,000 people. It is named after Samuel Alexander Kinnier Wilson (1878–1937), the British neurologist who first described the condition in 1912.
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