Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Anesthesia for patients with muscular dystrophy is a great challenge to the anesthesiologists. A 56-year-old female with muscular dystrophy was diagnosed as having colon cancer. Since surgical intervention was indicated, epidural anesthesia with double catheters was performed. The entire anesthetic course was uneventful. Based on the experience obtained, it is concluded that epidural anesthesia offers a good alternative to general anesthesia for major abdominal surgery complicated by muscular dystrophy.
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PMID:Epidural anesthesia for major abdominal surgery complicated by muscular dystrophy--a case report. 272 87

Although Ca in small quantities plays a fundamental role in cell activation, excessive intracellular Ca accumulation results in severe cellular damage and is a major factor in the pathophysiology of multiple diseases. Paradoxically, high Ca intake may be beneficial in unrelated disorders such as arterial hypertension, nephrolithiasis and in the prevention of colon cancer. Parathyroid hormone (PTH) could be the link capable to explain this paradox. PTH stimulates cellular calcium influx. Under normal conditions, this effect takes place only in target tissues for the hormone, but in the presence of altered cell-membrane permeability for calcium, normal plasma PTH may be detrimental, enhancing cellular calcium influx. Thus, the suppression of PTH secretion by a high Ca intake would result in a reduced PTH-induced cellular Ca accumulation in genetically predisposed tissues with a loose cellular Ca control. Thus, parathyroid ablation in dystrophic hamster reduces the elevated muscle Ca observed in muscular dystrophy and causes histological improvement without altering the serum Ca concentration. The amount of dietary Ca required is not firmly established, but anthropological observations suggest a daily intake of approximately 1600 mg, much higher than the present average Ca intake in Western societies. Thus, a higher Ca intake would be beneficial in the treatment, and more importantly, in the prevention of multiple diseases.
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PMID:[New perspectives in calcium metabolism]. 820 35

Approximately 17% of the human genome is comprised of long interspersed nuclear element 1 (LINE-1, L1) non-LTR retrotransposons. L1 retrotransposition is known to be the cause of several genetic diseases, such as hemophilia A, Duchene muscular dystrophy, and so on. The L1 retroelements are also able to cause colon cancer, suggesting that L1 transposition could occur not only in germ cells, but also in somatic cells if innate immunity would not function appropriately. The mechanisms of L1 transposition restriction in the normal cells, however, are not fully defined. We here show that antiretroviral innate proteins, human APOBEC3 (hA3) family members, from hA3A to hA3H, differentially reduce the level of L1 retrotransposition that does not correlate either with antiviral activity against Vif-deficient HIV-1 and murine leukemia virus, or with patterns of subcellular localization. Importantly, hA3G protein inhibits L1 retrotransposition, in striking contrast to the recent reports. Inhibitory effect of hA3 family members on L1 transposition might not be due to deaminase activity, but due to novel mechanism(s). Thus, we conclude that all hA3 proteins act to differentially suppress uncontrolled transposition of L1 elements.
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PMID:All APOBEC3 family proteins differentially inhibit LINE-1 retrotransposition. 1743 59