Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An eight-month-old Border collie was presented with anorexia, cachexia, failure to thrive and stupor. Laboratory tests demonstrated a mild anaemia, neutropenia, proteinuria and hyperammonaemia. Serum bile acid concentrations were normal, but an ammonia tolerance test (ATT) was abnormal. The dog responded to symptomatic therapy for hepatoencephalopathy. When a low serum cobalamin (vitamin B12) concentration and methylmalonic aciduria were noted, the dog was given a supplement of parenteral cobalamin. Two weeks later, a repeat ATT was normal. Cobalamin supplementation was continued every two weeks, and all clinical signs, except for proteinuria, resolved despite withdrawing all therapy for hepatoencephalopathy. A presumptive diagnosis of hereditary selective cobalamin malabsorption was made, based on the young age, Border collie breed, low serum cobalamin concentration and methylmalonic aciduria. Although hereditary selective cobalamin malabsorption in Border collies, giant schnauzers, Australian shepherd dogs and beagles has previously been reported in North America, to the authors' knowledge this is the first report of the condition in the UK and the first to document an abnormal ATT in a cobalamin-deficient dog.
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PMID:Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie. 1603 51

Since the discovery of vitamins, there has been an increasing interest at relating vitamins with particular diseases. In particular, for vitamin A its singular importance has been determined in multiple vital functions, and its relationship with diseases, both in deficit and in excess, is nowadays completely demonstrated. In developed countries, vitamin deficiency-related diseases have been greatly reduced; however, in some patients with particular features they must be kept in mind. This is the case of a 45 year-old man, with a history of chronic alcoholism, non insulin-dependent diabetes meIlitus and cholecystectomy with a high biliary drainage secondary to emphysematous cholecystitis and perivesicular abscess. He complains of bilateral ocular pain, photophobia, and decreased visual acuity besides a history of pasty, sticky and foul-smelling feces. He is admitted in the Ophthalmology Department and bilateral corneal ulceration is diagnosed. A consultation to the Nutrition Department is made because of cachexia. Severe caloric and mil protein hyponutrition is observed with a BMI of 18.2 and a 23% weight loss for the last 6 months, fat-soluble vitamins (A, D and E) deficit, mild fat malabsorption, and macrocytic and hypochromic anemia. The patient's diet is supplemented with a special hyperproteinic and hypercaloric diet for diabetics, deficient vitamins and pancreatic enzymes to improve absorption are administered, and glycemia is controlled with insulin. Four months later, the patient is assessed and has a BMI of 20, anemia has resolved and from an ophthalmologic viewpoint the course is favorable, the ulcers improve and visual acuity is almost completely recovered. In chronic alcoholic patients with a low dietary intake and clinical complications with nutritional repercussions (pancreatitis that produces malabsorption or cholecystectomy with biliary percutaneous drainage) we should not forget that micronutrients deficits may explain the etiology of other associated diseases, in the present case corneal ulceration.
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PMID:[Bilateral corneal ulceration as a result of caloric-protein malnutrition and vitamin A deficit in a patient with chronic alcoholism, chronic pancreatitis and cholecystostomy]. 1604 34

Pellagra is a systemic disturbance caused by a cellular deficiency of niacin, resulting from inadequate dietary nicotinic acid and/or its precursors, the essential amino-acid tryptophan. In Europe and North America cases of pellagra are rarely encountered, but in some developing countries this disease is frequent, and is the most frequent clinical feature of nutritional deficiency of adult. The principal causes of pellagra are: nutritional niacin deficiency; chronic alcoholism; gastro-intestinal malabsorption; some medications (5-fluoro-uracil, isoniazid, pyrazinamide ehtionamide, 6-mercaptopurine, hydantoins, phenobarbital and chloramphenicol). The diagnosis of pellagra is based on the patient's history and the presence of "3 D syndrome": dermatitis, diarrhea, and dementia. The dermatitis caused by pellagra is a bilaterally symmetrical erythema at the sites of solar exposure. The dermatitis begins in the form of an erythema with acute or intermittent onset gradually changing to an exsudative eruption on the dorsa of the hand, face, neck, and chest with pruritus and burning. Acute dermatitis of pellagra resembles sunburn in the first stages, sometimes with vesicles and bullae. The gastro-intestinal disturbances are: anorexia, nausea, epigastric discomfort and chronic or recurrent diarrhea. Anorexia and malabsorbative diarrhea lead to a state of malnutrition and cachexia. Stools are typically watery, but occasionally can be bloody and mucoid. Neuropsychologic manifestation included photophobia, asthenia, depression, hallucinations, confusions, memory loss and psychosis. As pellagra advances, patient become disoriented, confused and delirious; then stuporous and finally die. Pathological changes in the skin is non-specific, there are no chemical tests available to definitively diagnose pellagra. However low levels of urinary excretion of N-methylnicotinamide and pyridone indicates niacin deficiency. The treatment of pellagra consisted to exogenous administration of niacin or nicotinamide cures. Topical management of skin lesions with emollients may reduce discomfort. The therapy should also include other B vitamins, zinc and magnesium as well as a diet rich in calories. The prevention is based in the nutritional education (food sources of niacin: eggs, bran, peanuts, meat, poultry, fish, red meat, legumes and seeds), and the eviction of alcohol.
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PMID:[Pellagra]. 1620 85

Systemic sclerosis (SSc) is a chronic connective tissue disease characterized by fibrosis and destruction of the microvasculature. Increased deposition of collagen and other extracellular matrix components affects not only the skin but most of the internal organs including lungs, heart, kidneys and the gastrointestinal (GI) tract. Within the GI tract, esophageal involvements are most frequently seen features. However, abnormalities in the small intestine, colon and anorectum may also occur. A retrospective study was performed to investigate the frequency and clinical relevances of GI involvement in patients with SSc. Charts of altogether 246 SSc patients were reviewed. This patient population included 40 males and 206 females, with a mean age of 54.2 years. In general, 176 of 246 patients (71.5%) had GI symptoms. Esophageal involvement including gastro-esophageal reflux disease (GERD), aperistalsis, pseudodiverticuli, etc. was the most common (62.6%). In addition, diseases of the stomach (31.7%), dysfunctions of the colon and anorectum (11.4%), as well as sclerosis of the biliary tract and other pancreato-biliary disorders (9.8%) also occurred. Diarrhea and malabsorption resulted in cachexia and other secondary complications leading to death in two cases. Our results support that GI manifestations are rather common in SSc. Apart from the esophagus, other GI complications in SSc are usually mild, however, early recognition is necessary to improve quality of life.
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PMID:Gastrointestinal manifestations in Hungarian scleroderma patients. 1677 Jun 15

Chronic heart failure is a complex catabolic state that carries a devastating prognosis. The transition from stable disease to cardiac cachexia is not well understood. Mechanisms that maintain the wasting process involve neurohormones and pro-inflammatory cytokines, which contribute to an imbalance in anabolic and catabolic pathways. A decrease in food intake alone rarely triggers the development of a wasting process, but dietary deficiencies in micronutrients and macronutrients contribute to the progression of the disease. Malabsorption from the gut as a result of bowel wall edema and decreased bowel perfusion also plays an important role. This article describes the complex interplay of hormonal systems in energy balance in patients with chronic heart failure as well as other factors such as malabsorption and dietary deficiencies that contribute to the wasting process. Finally, therapeutic approaches are discussed. These include dietary advice, ongoing studies, and future possibilities.
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PMID:Nutrition, metabolism, and the complex pathophysiology of cachexia in chronic heart failure. 1703 72

On December 13th and 14th a group of scientists and clinicians met in Washington, DC, for the cachexia consensus conference. At the present time, there is no widely agreed upon operational definition of cachexia. The lack of a definition accepted by clinician and researchers has limited identification and treatment of cachectic patient as well as the development and approval of potential therapeutic agents. The definition that emerged is: "cachexia, is a complex metabolic syndrome associated with underlying illness and characterized by loss of muscle with or without loss of fat mass. The prominent clinical feature of cachexia is weight loss in adults (corrected for fluid retention) or growth failure in children (excluding endocrine disorders). Anorexia, inflammation, insulin resistance and increased muscle protein breakdown are frequently associated with cachexia. Cachexia is distinct from starvation, age-related loss of muscle mass, primary depression, malabsorption and hyperthyroidism and is associated with increased morbidity. While this definition has not been tested in epidemiological or intervention studies, a consensus operational definition provides an opportunity for increased research.
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PMID:Cachexia: a new definition. 1871 96

Impaired functioning of the gastrointestinal system may also contribute to malnutrition and cardiac cachexia (CC) in patients with chronic heart failure (CHF). Targets for future interventions include the deranged hormonal systems involved in energy balance as well as malabsorption from the gut and dietary supplementation. Other targets are the inhibition of proteasome-dependent protein degradation and the direct inhibition of pro-inflammatory pathways. The beneficial effects of ACE inhibitors, aldesterone inhibitors and beta-blockers in preventing or delaying the collagen deposition in the small intestine wall need to be elucidated. We strongly believe that by improving our understanding of the role of the gut in CC will lead to the development of novel therapeutic strategies in the near future.
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PMID:The small intestine: a critical linkage in pathophysiology of cardiac cachexia. 2111 52

Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by high plasma low-density lipoprotein (LDL)-cholesterol and premature coronary artery disease. Many factors, such as illness, high-dose statin therapy or a strict vegan diet can cause hypobetalipoproteinaemia (HBL). The more common secondary causes of HBL in the hospital setting include cachexia, intestinal malabsorption, malnutrition, severe liver disease and hyperthyroidism. We report a case of HBL in a 43-year-old man with previously demonstrated marked hypercholesterolaemia who attended a lipid disorders clinic for FH cascade screening. Surprisingly, a lipid profile taken at that time showed low plasma LDL-cholesterol and apolipoprotein B concentrations of 1.6 mmol/L and 0.61 g/L, respectively. He was not on lipid-lowering therapy. DNA sequencing showed that he was heterozygous for the LDLR gene mutation (C677R) present in other affected family members. Of interest, his serum transaminases were increased by approximately 3-fold and hepatitis serology and genotyping confirmed a diagnosis of hepatitis C virus (HCV) infection. In summary, we describe a case of HBL secondary to chronic HCV infection in a patient with FH, confirmed by mutational analysis.
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PMID:Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia. 1948 12

Nutritional support is becoming a mainstay of the comprehensive therapeutic approach to patients with chronic diseases. Chronic heart failure (CHF) and chronic obstructive pulmonary disease (COPD) are frequently associated with the progressive development of malnutrition, due to reduced energy intake, increased energy expenditure and impaired anabolism. Malnutrition and eventually cachexia have been shown to have a negative influence on the clinical course of CHF and COPD, and to impinge on patients' quality of life. Nutritional support in these patients should be therefore considered, particularly to prevent progressive weight loss, since restoration of lean and fat body mass may not be achievable. In CHF and COPD patients, the gastrointestinal tract is normally accessible and functioning. Although recent reports suggest that heart failure is associated with modifications of intestinal morphology, permeability and absorption, the clinical relevance of these are still not clear. Oral supplementation and enteral nutrition should represent the first choices when cardiopulmonary patients need nutritional support, particularly given the potential complications and economic burden of parenteral nutrition. This appropriately preferential enteral approach partly explains the lack of robust clinical trials of the role of parenteral nutrition in CHF and COPD patients. Based on the available evidence collected via PubMed, Medline, and SCOPUS searches, it is recommended that parenteral nutrition is reserved for those patients in whom malabsorption has been documented and in those in whom enteral nutrition has failed.
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PMID:ESPEN Guidelines on Parenteral Nutrition: on cardiology and pneumology. 1951 64

Cachexia is a distressing and debilitating condition, affecting significant numbers of patients with advanced disease and causing significant distress; it is the primary cause of death in about 20% of all patients with cancer. Though cachexia is most commonly associated with particular tumours, such as head and neck, gastrointestinal tract, pancreas, central nervous system and lung, it may affect any patient with any tumour at any site; no patient and no tumour are excluded. Its origin is both complex and multifactorial, appearing to reflect both reduced nutrient availability and increased nutritional demand, resulting from metabolic and pathphysiological changes, functional inability to ingest or utilize nutrients related perhaps to mechanical interference (e.g. obstruction, malabsorption, surgical intervention), treatment-related toxicity or social and psychological factors. This article offers an overview of the cachectic process, considering its pathophysiology and the factors contributing to its development before considering its diagnosis and impact on individuals. Although guidelines for its clinical management are provided, the article does not provide specialist advice; support will be needed from a dietitian or clinical nurse specialist.
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PMID:A difficult clinical problem: diagnosis, impact and clinical management of cachexia in palliative care. 1964 46


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