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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.
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PMID:Clinical features and molecular bases of neuroacanthocytosis. 1218 48

Human size and shape vary widely. Relative obesity or apparent under nutrition may not limit survival into old age. Normal body appearance can mask gross malnutrition, particularly mineral and vitamin deficiency, problems of measurement in the elderly. Obesity is associated with joint degeneration and systemic disease but with reduced incidence of fractures. Undenutrition is associated with skin breakdown, poor wound healing and fractures. Body composition changes due to disease include dysphagia, myxoedema, anaemia, chronic cardiac and renal disease. Skeletal changes include osteoporosis and Paget's disease. Body composition can change due to treatment, control of dietary energy intake and tube-feeding.
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PMID:Body composition and aging: a practising clinician's point of view. 2439 52

Clinical nutrition is emerging as a major area in gastroenterology practice. Most gastrointestinal disorders interfere with digestive physiology and compromise nutritional status. Refeeding syndrome (RS) may increase morbidity and mortality in gastroenterology patients. Literature search using the keywords "Refeeding Syndrome", "Hypophosphatemia", "Hypomagnesemia" and "Hypokalemia". Data regarding definition, pathophysiology, clinical manifestations, risk factors, management and prevention of RS were collected. Most evidence comes from case reports, narrative reviews and scarse observational trials. RS results from the potentially fatal shifts in fluid and electrolytes that may occur in malnourished patients receiving nutritional therapy. No standard definition is established and epidemiologic data is lacking. RS is characterized by hypophosphatemia, hypomagnesemia, hypokalemia, vitamin deficiency and abnormal glucose metabolism. Oral, enteral and parenteral nutrition may precipitate RS. Awareness and risk stratification using NICE criteria is essential to prevent and manage malnourished patients. Nutritional support should be started using low energy replacement and thiamine supplementation. Correction of electrolytes and fluid imbalances must be started before feeding. Malnourished patients with inflammatory bowel disease, liver cirrhosis, chronic intestinal failure and patients referred for endoscopic gastrostomy due to prolonged dysphagia present high risk of RS, in the gastroenterology practice. RS should be considered before starting nutritional support. Preventive measures are crucial, including fluid and electrolyte replacement therapy, vitamin supplementation and use of hypocaloric regimens. Gastroenterology patients must be viewed as high risk patients but the impact of RS in the outcome is not clearly defined in current literature.
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PMID:Refeeding syndrome in the gastroenterology practice: how concerned should we be? 2999 72