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)

Two appetite stimulants, megestrol acetate and cyproheptadine were administered in a randomized trial to 14 patients who had no evidence of opportunistic infection or malabsorption but were wasted (had lost more than 5 kg body weight) as a result of human immunodeficiency virus (HIV) infection. Energy intakes were calculated from a 7 day weighed dietary record. Mean energy intakes per kilogramme body weight were similar in both treatment groups (greater than 34 kcal/kg) and were higher than that in well British males. Energy intakes increased by just over 500 kcal during both treatments, but fell to pretreatment levels after therapy. Patients in both treatment groups gained a moderate amount of weight. Megestrol acetate was associated with impotence in 4 patients. Insufficient calorie intake alone is not a common cause of wasting associated with HIV and the role of appetite stimulants is likely to be limited.
Int J STD AIDS
PMID:Megestrol acetate vs cyproheptadine in the treatment of weight loss associated with HIV infection. 150 60

The hemodynamic effects induced by thiopental and a decrease in blood ionized calcium are uniform. This investigation was undertaken to show a possible decrease in ionized blood calcium during induction of general anesthesia with thiopental. Twenty-four patients aged 19-79 years (median 57) were studied. None had any known parathyroid disease, malabsorption, or chronic renal insufficiency, and none were receiving calcium channel blockers. For the analysis of blood Ca++, pH, and PCO2, blood samples were drawn anaerobically into a heparinized syringe from an i.v. cannula. A special heparin solution was used (S4500 Radiometer, Copenhagen) to avoid the influence of heparin on the Ca++ determination. The initial 2 ml were discarded. No samples were drawn in the first 3 min after removal of the tourniquet. A maximum of 100 ml isotonic saline was infused between the two samplings. The infusion was stopped for at least 30 s before sampling. PCO2, B-Ca++, and pH were measured directly using the ABL 4 (Radiometer, Copenhagen) and the ICA 1 ionized calcium analyzer (Radiometer, Copenhagen). The standard deviation of repeated measurements of B-Ca++ within a short time using the same sample is 0.01 mmol/l on the ICA 1. The samples were drawn just before and 2 min after thiopental injection (median 5.9 mg/kg) was started. The pulse and blood pressure were simultaneously measured. The individual Ca++ measurements are shown in Table 1. The results of the investigation are shown in Table 2.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Effect of thiopental Na on the concentration of calcium ions in blood]. 366 52

We measured plasma levels of all the antioxidant-micronutrients in subjects with HIV infection and controls. Plasma levels of all the carotenoids, including lutein, cryptoxanthin, lycopene, alpha-carotene and beta-carotene as well as vitamins A, C and E and cholesterol were assayed in 35 subjects with HIV infection and 38 controls. We found a significant depletion of all the carotenoids (P < 0.001) and vitamin C (P < 0.01) and cholesterol (P < 0.001) but not vitamins A or E in HIV-infected subjects. Further analysis of the HIV-infected subjects revealed that plasma levels of 4 of the groups of carotenoids and cholesterol were correlated with CD4 count but that beta-carotene and vitamins A, C and E were not. These results are reviewed in the light of the published literature and we conclude that these abnormalities of antioxidant-micronutrients are likely to reflect a metabolic phenomenon associated with HIV infection. However, an additional contribution to these deficiencies from malabsorption later in HIV disease cannot be ruled out.
Int J STD AIDS
PMID:Antioxidant-micronutrients and HIV infection. 911 64

Severe lactic acidosis has been increasingly reported as a potentially fatal complication of HIV treatment. We report on an asymptomatic HIV-infected woman treated with stavudine, lamivudine and indinavir for one year. She was hospitalized because of progressive dispnoea, oedema, cyanosis and severe lactic acidosis. Arterial blood pH was 6.98, bicarbonate 4.4 mmol/l (normal value 22-26), blood lactate: 29.7 mmol/l (normal value <2.2). Hepatic function was normal. She had an impressively rapid response (within a few hours) to empirical treatment with thiamine (100 mg i.v.). No evidence of sepsis or malabsorption were identified and vitamin B1 level was not tested before thiamine infusion. Three months later she was re-started successfully on nelfinavir plus nevirapine. The rapid response to thiamine infusion deserves a careful attention and such an approach should be considered in similar cases as a support treatment of this potentially life-threatening complication of HIV therapy.
Int J STD AIDS 2001 Jun
PMID:Severe lactic acidosis and thiamine administration in an HIV-infected patient on HAART. 1136 26

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large subunit of microsomal triglyceride transfer protein (MTP; OMIM 157147). To date at least 33 MTP mutations have been identified in 43 ABL patients. We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into the possible effects of such treatments. We review the range of clinical, biochemical and molecular perturbations in ABL.
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PMID:Abetalipoproteinemia: two case reports and literature review. 1861 Dec 56

Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.582C>A) and the long-term follow-up of four ABL subjects treated with vitamin E. The good outcome of the early-treated patients contrasts with severe ataxia and retinopathy observed in the patient with delayed treatment. In conclusion, early diagnosis and early management are essential to prevent the manifestations following the fat-soluble vitamin deficiencies.
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PMID:Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. 1906 57

Autoimmune diseases are characterised by lymphoproliferation in target tissues with B and T lymphocytes often arranged in pseudofollicles, mimicking the structure of peripheral lymph nodes. Target organ tissue damage produces the clinical phenotype which may be diverse ranging from autoimmune endocrinopathies to malabsorption (coeliac disease) to structural damage within bones and joints (rheumatoid arthritis). Recently, B cell depletion has been shown to be effective in many autoimmune conditions suggesting a common pathological origin for these conditions which might be triggered by an autoimmune B cell that has escaped deletion. We postulate that a mutation in a transcription factor early in B cell development might allow persistence and foster proliferation of a clone of autoimmune B cells, capable of producing autoantibodies. A similar common mutation within the JAK2 tyrosine kinase gene has recently been described associated with the myeloproliferative disorders which are also characterised by diverse clinical disease phenotypes. There is considerable evidence that autoimmune diseases could be indolent lymphoproliferative disorders of B-cell origin, extending the forbidden clone hypothesis first proposed in the 1950s.
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PMID:B cell lymphoproliferation and organ-directed self-recognition to explain autoimmunity: back to the past. 2040 69

All organisms have devised strategies to counteract energy depletion and promote fitness for survival. We show here that cellular energy depletion puts into play a surprising strategy that leads to absorption of exogenous fuel for energy repletion. The energy-depletion-sensing kinase AMPK binds, phosphorylates, and activates the transcriptional coactivator SRC-2, which in a liver-specific manner promotes absorption of dietary fat from the gut. Hepatocyte-specific deletion of SRC-2 results in intestinal fat malabsorption and attenuated entry of fat into the blood stream. This defect can be attributed to AMPK- and SRC-2-mediated transcriptional regulation of hepatic bile acid (BA) secretion into the gut, as it can be completely rescued by replenishing intestinal BA or by genetically restoring the levels of hepatic bile salt export pump (BSEP). Our results position the hepatic AMPK-SRC-2 axis as an energy rheostat, which upon cellular energy depletion resets whole-body energy by promoting absorption of dietary fuel.
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PMID:Cellular energy depletion resets whole-body energy by promoting coactivator-mediated dietary fuel absorption. 2119 40

Abetalipoproteinemia (ABL; OMIM 200100) and homozygous hypobetalipoproteinemia (HHBL; OMIM 107730) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein (apo) B-containing lipoprotein particles due to mutations either in both alleles of the MTP (alias MTTP) gene encoding microsomal triglyceride transfer protein (MTP) or both alleles of the APOB gene itself in the case of ABL and HHBL, respectively. Clinical diagnosis is based on signs and symptoms, acanthocytosis on blood smear, and virtually absent apo B-containing lipoproteins, including chylomicrons, very low density lipoprotein and low density lipoprotein. Obligate heterozygote parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, while heterozygous parents of HHBL patients typically have half normal levels of apo B-containing lipoproteins consistent with autosomal co-dominant inheritance. Definitive diagnosis involves sequencing the MTP and APOB genes, for which >30 and >60 mutations have been described for ABL and HHBL, respectively. Follow-up includes monitoring for ophthalmologic, neurologic, hematologic, and hepatic complications, as well as compliance with treatment. Investigations include lipid profile, serum transaminases, markers for lipid-soluble vitamins, and periodic instrumental assessment of ocular and neurological function. Mainstays of treatment include adherence to a low-fat diet, and supplementation with essential fatty acids and high oral doses of fat soluble vitamins. Prognosis is variable, but early diagnosis and strict adherence to treatment can recover normal neurological function and halt disease progression.
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PMID:Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. 2428 38