Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The molecular genetics of the autosomal recessive disorder pycnodysostosis was studied in five independent families from an outbred Caucasian population. We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis: a one base transition in exon8, c926T > C, causing a single amino acid substitution leucine-->proline, L309P; A 3' splice site mutation in intron 2, c121-1G > A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G > A leading to residue G79E. In three of the families patients were homozygous for 926T > C. In the remaining two families patients were heterozygous for 926T > C and 121-1G > A in one case, and for 926T > C and 236G > A in the other case. Assays using genomic DNA were developed for all three mutations. We tested 150 healthy control persons and observed the mutation frequencies: 0 to 300 for 121-1G > A and 236G > A and 1 to 150 for 926T > C. One patient from each family was haplotyped with eight microsatellite markers surrounding the cathepsin K gene on chromosome 1q21. A very rare, P = 1.8 x 10(-6) to P = 0.0004, and highly preserved area around the presumed disease locus was common to all the patients. This haplotype was found on seven chromosomes identical by state, IBS, out of the possible eight carrying the 926T > C mutation. Founder effect, locus homogeneity, and allele heterogeneity regarding pycnodysostosis within this population are discussed. Finally, the first pregnancy and delivery described in a patient with pycnodysostosis is reported.
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PMID:Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population. 1087 63

Hypnosis treatment often improves irritable bowel syndrome (IBS), but the costs and reliance on specialized therapists limit its availability. A 3-month home-treatment version of a scripted hypnosis protocol previously shown to improve all central IBS symptoms was completed by 19 IBS patients. Outcomes were compared to those of 57 matched IBS patients from a separate study receiving only standard medical care. Ten of the hypnosis subjects (53%) responded to treatment by 3-month follow-up (response defined as more than 50% reduction in IBS severity) vs. 15 (26%) of controls. Hypnosis subjects improved more in quality of life scores compared to controls. Anxiety predicted poor treatment response. Hypnosis responders remained improved at 6-month follow-up. Although response rate was lower than previously observed in therapist-delivered treatment, hypnosis home treatment may double the proportion of IBS patients improving significantly across 6 months.
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PMID:Hypnosis home treatment for irritable bowel syndrome: a pilot study. 1631 85

Despite the accumulation of efficacy data for cognitive-behavioral treatment of Irritable Bowel Syndrome (IBS), efforts to investigate methods for increasing access to psychological treatments are in their infancy. The current study examined the efficacy of self-administered treatment in comparison to a wait list control. Twenty-eight participants monitored gastrointestinal (GI) symptoms and completed measures of quality of life (QOL) and psychological distress prior to randomized assignment to self-help treatment or wait list. Wait listed participants later received treatment. A 3 month post-treatment follow-up was included. Seven participants completed immediate treatment; nine the wait list. The self-help treatment significantly decreased composite GI symptom scores in comparison to the wait list, but did not lead to significant improvements in QOL or distress. In the entire treated sample, including wait list crossovers, analyses showed significant improvement in abdominal pain, average GI symptoms, and perceived health and well-being. Interpretation of these results should be considered in the context of several limitations, including small sample size, brief baseline symptom monitoring, and high drop out rate. Despite these limitations, this study is an important first step in empirically validating low-cost, self-administered treatments as a first line psychological intervention for IBS.
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PMID:Preliminary study of a self-administered treatment for irritable bowel syndrome: comparison to a wait list control group. 1756 25

The antinociceptive mechanism underlying protease-activated receptor-4 (PAR(4)) activation was studied in Fast Blue-labelled dorsal root ganglia (DRG) neurons from mouse colon which expressed transcript for PAR(4). Whole cell perforated patch clamp recordings were obtained from these neurons and the effects on neuronal excitability of PAR(4) activating peptides (AP) and reverse peptides (RP) were examined. A 3-min application of PAR(4)-AP (100 micromol L(-1)) markedly suppressed the number of action potential discharged at twice rheobase for up to 60 min. PAR(4)-RP had no effect. PAR(4) application suppresses the excitatory effects of PAR(2). These findings demonstrated that activation of PAR(4) on colonic DRG neurons suppresses their excitability, suggesting these receptors could provide important targets for modifying pain in colonic GI disorders such as IBS and IBD.
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PMID:Activation of protease-activated receptor-4 inhibits the intrinsic excitability of colonic dorsal root ganglia neurons. 1956 87