Het Ogilvie-syndroom bij oudere patiënten met multiproblematiek

Twee patiënten presenteren zich met het Ogilvie-syndroom, een acute intestinale pseudo-obstructie zonder mechanische obstructie. Bij beide patiënten was er sprake van multi-problematiek met infectie, elektrolietstoornissen en functionele achteruitgang. Dit ziektebeeld komt vooral voor bij zieke patiënten vanaf 60 jaar met multimorbiditeit die in het ziekenhuis of verpleeghuis verblijven. Met de vergrijzing zal de incidentie van dit ziektebeeld waarschijnlijk toenemen, met name bij de kwetsbare oudere patiënt. De precieze pathofysiologie is onbekend, maar er zijn in de literatuur aanwijzingen voor een multicausaal model dat autonome disregulatie van het colon veroorzaakt. Vroege herkenning en adequate behandeling kan het risico op complicaties en overlijden sterk doen verminderen, afhankelijk van de onderliggende comorbiditeit

Gastrointestinal Endoscopic Terminology Coding (GET-C): A WHO-Approved Extension of the ICD-10

Technological developments have greatly promoted interest in the use of computer systems for recording findings and images at endoscopy and creating databases. The aim of this study was to develop a comprehensive WHO-approved code system for gastrointestinal endoscopic terminology. The International Classification of Diseases, 10th edition (ICD-10), and the ICD-10 clinical modification (ICD-10-CM) were expanded to allow description of every possible gastrointestinal endoscopic term under conditions defined by the WHO. Classifications of specific gastrointestinal disorders and endoscopic locations were added. A new chapter was developed for frequently used terminology that could not be classified in the existing ICD-10, such as descriptions of therapeutic procedures. The new extended code system was named Gastrointestinal Endoscopic Terminology Coding (GET-C). The GET-C is a complete ICD-10-related code system that can be used within every endoscopic database program for all specific endoscopic terms. The GET-C is available for free at http://www.trans-it.org/

Porcine Y-chromosome variation is consistent with the occurrence of paternal gene flow from non-Asian to Asian populations

Altres ajuts: CERCA Programme/Generalitat de Catalunya.Pigs (Sus scrofa) originated in Southeast Asia and expanded to Europe and North Africa approximately 1 MYA. Analyses of porcine Y-chromosome variation have shown the existence of two main haplogroups that are highly divergent, a result that is consistent with previous mitochondrial and autosomal data showing that the Asian and non-Asian pig populations remained geographically isolated until recently. Paradoxically, one of these Y-chromosome haplogroups is extensively shared by pigs and wild boars from Asia and Europe, an observation that is difficult to reconcile with a scenario of prolonged geographic isolation. To shed light on this issue, we genotyped 33 Y-linked SNPs and one indel in a worldwide sample of pigs and wild boars and sequenced a total of 9903 nucleotide sites from seven loci distributed along the Y-chromosome. Notably, the nucleotide diversity per site at the Y-linked loci (0.0015 in Asian pigs) displayed the same order of magnitude as that described for autosomal loci (~0.0023), a finding compatible with a process of sustained and intense isolation. We performed an approximate Bayesian computation analysis focused on the paternal diversity of wild boars and local pig breeds in which we compared three demographic models: two isolation models (I models) differing in the time of isolation and a model of isolation with recent unidirectional migration (IM model). Our results suggest that the most likely explanation for the extensive sharing of one Y-chromosome haplogroup between non-Asian and Asian populations is a recent and unidirectional (non-Asian > Asian) paternal migration event

Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits

The great tit HapMap project: a continental‐scale analysis of genomic variation in a songbird

A major aim of evolutionary biology is to understand why patterns of genomic diversity vary within taxa and space. Large-scale genomic studies of widespread species are useful for studying how environment and demography shape patterns of genomic divergence. Here, we describe one of the most geographically comprehensive surveys of genomic variation in a wild vertebrate to date; the great tit (Parus major) HapMap project. We screened ca 500,000 SNP markers across 647 individuals from 29 populations, spanning ~30 degrees of latitude and 40 degrees of longitude – almost the entire geographical range of the European subspecies. Genome-wide variation was consistent with a recent colonisation across Europe from a South-East European refugium, with bottlenecks and reduced genetic diversity in island populations. Differentiation across the genome was highly heterogeneous, with clear ‘islands of differentiation’, even among populations with very low levels of genome-wide differentiation. Low local recombination rates were a strong predictor of high local genomic differentiation (FST), especially in island and peripheral mainland populations, suggesting that the interplay between genetic drift and recombination causes highly heterogeneous differentiation landscapes. We also detected genomic outlier regions that were confined to one or more peripheral great tit populations, probably as a result of recent directional selection at the species' range edges. Haplotype-based measures of selection were related to recombination rate, albeit less strongly, and highlighted population-specific sweeps that likely resulted from positive selection. Our study highlights how comprehensive screens of genomic variation in wild organisms can provide unique insights into spatio-temporal evolutionary dynamics

Incidence of duodenal ulcers and gastric ulcers in a Western population: Back to where it started

BACKGROUND/OBJECTIVES: As recently as 40 years ago, a decline in the incidence of peptic ulcers was observed. The discovery of Helicobacter pylori had a further major impact on the incidence of ulcer disease. Our aim was to evaluate the trends in the incidence and bleeding complications of ulcer disease in the Netherlands

New endoscopic techniques for obscure gastrointestinal bleeding

The case of a postmenopausal woman with a congenital aortic stenosis is presented. She presented with severe iron deficiency anemia. After negative extensive gastrointestinal analysis, she was treated with octreotide for six months. After cessation of octreotide, anemia rapidly recurred. A second capsule endoscopy and a double balloon enteroscopy were performed, and an intestinal vascular malformation was found. After surgical segment resection, the patient had stable, normal levels of hemoglobin and no complaints after 14 months of follow-up