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

Weight loss and wasting are significant contributors to morbidity in patients infected with the human immunodeficiency virus (HIV). The approach to the patient with HIV and weight loss needs to be proactive and comprehensive, as early intervention may be beneficial and the weight loss may be multifactorial. Evaluation for weight loss needs to be directed at any apparent contributing cause and can include dietary evaluation, treatment of intercurrent complicating infections or malignancies, and maximization of HIV therapy. Some patients will also benefit from an evaluation of the gastrointestinal tract to document malabsorption and/or opportunistic enteric infections. It is also prudent to evaluate testosterone levels in male patients. Interventions in the patient who is not able to take in sufficient calories should include dietary advice and/or nutritional supplements, as well as the use of appetite stimulants. Megace (Bristol-Myers Squibb, Princeton, NJ) has been shown to effectively increase appetite, oral intake, and body weight. For the patient with malabsorption and/or diarrhea, treatment of enteric infections should be attempted. These patients may benefit from the replacement of some dietary fat with medium-chain triglycerides, either in a nutritional product or to replace cooking oils. Other patients may benefit from the use of anabolic agents such as growth hormone, nandrolone, testosterone, or oxandrolone, which are all effective at increasing lean body mass. For select patients, agents such as thalidomide might be of benefit, although its mechanism of action is not clear. There are few data from prospective, controlled trials of combinations of these agents, but these studies are underway. It is likely that the optimal interventions for patients will be combinations of agents to improve oral intake and add lean body mass, which will permit a reduction in morbidity from weight loss and an improvement in quality of life for the HIV-infected patient.
 ...
PMID:Single-agent/combination therapy of human immunodeficiency virus-related wasting. 962 91

Selective intestinal malabsorption of vitamin B(12) causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Mediterranean region. The disease can be caused by mutations in either the cubilin (CUBN; MGA1; MIM# 602997) or the amnionless (AMN; MIM# 605799) gene. To explain the peculiar geographical distribution, we hypothesized that mutations in one of the genes would mainly be responsible for the disease in Scandinavia, and mutations in the other gene in the Mediterranean region. We studied 42 sibships and found all cases in Finland to be due to CUBN (three different mutations) and all cases in Norway to be due to AMN (two different mutations), while in Turkey, Israel, and Saudi Arabia, there were two different AMN mutations and three different CUBN mutations. Haplotype evidence excluded both CUBN and AMN conclusively in five families and tentatively in three families, suggesting the presence of at least one more gene locus that can cause MGA. We conclude that the Scandinavian cases are typical examples of enrichment by founder effects, while in the Mediterranean region high degrees of consanguinity expose rare mutations in both genes. We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought.
 ...
PMID:Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. 1502 27