The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases

The SIB Swiss Institute of Bioinformatics (www.isb-sib.ch) provides world-class bioinformatics databases, software tools, services and training to the international life science community in academia and industry. These solutions allow life scientists to turn the exponentially growing amount of data into knowledge. Here, we provide an overview of SIB's resources and competence areas, with a strong focus on curated databases and SIB's most popular and widely used resources. In particular, SIB's Bioinformatics resource portal ExPASy features over 150 resources, including UniProtKB/Swiss-Prot, ENZYME, PROSITE, neXtProt, STRING, UniCarbKB, SugarBindDB, SwissRegulon, EPD, arrayMap, Bgee, SWISS-MODEL Repository, OMA, OrthoDB and other databases, which are briefly described in this article

Devenir des patients atteints de polykystose hépatorénale traités en première intention par dialyse péritonéale. Expérience du pôle de dialyse à domicile depuis 1997.

We extracted data from the French Speaking Registry of Peritoneal Dialysis and retrospectively studied peritonitis and the outcome of 30 patients with polycystic kidney disease firstly treated with peritoneal dialysis within our dialysis unit since 1997. There were 15 men and 15 women with a mean age of 54 years. Eighty-five per-cent of the patients had hepatic impairment. Ten patients did not suffer from comorbidities. Charlson comorbidity index was greater than or equal to 4 in five patients. Most of the patients was treated with automated peritoneal dialysis during the night. Only one patient was not autonomous with peritoneal dialysis. The whole medical monitoring lasted 836 months, representing an average of 28 months per patient. Eleven patients had a total of 24 peritonitis, 9 with gram negative bacillus. The incidence of peritonitis was one episode every 35 months-patient. Peritonitis was responsible for sudden admission in hemodialysis unit in two cases and death in one case. Fifteen patients (50%) benefited from renal transplantation. Only one patient had to undergo nephrectomy prior to renal transplantation. Seven patients were admitted to hemodialysis unit (the median duration time on peritoneal dialysis was 36 months). Four patients died. Four patients are currently treated with peritoneal dialysis. In conclusion, this retrospective study points out that peritoneal dialysis, especially automated peritoneal dialysis, is a good option for patients with polycystic kidney disease necessitating dialysis.Nous avons, à l’aide du Registre de Dialyse Péritonéale de Langue Française, étudié rétrospectivement les infections péritonéales et le devenir des trente patients atteints de polykystose rénale autosomique dominante de l’adulte pris en charge en dialyse péritonéale depuis 1997 dans notre unité.   Il s’agissait de 15 hommes et 15 femmes, âgés en moyenne de 54 ans. L’atteinte hépatique était présente chez 85% d’entre eux. Dix patients n’avaient aucune morbidité. Le score de comorbidité Charlson était supérieur ou égal à 4 chez cinq patients. La majorité des patients était traitée par dialyse péritonéale automatisée nocturne. Un seul patient était non autonome en dialyse. Le temps cumulé de suivi pour l’ensemble des patients était de 836 mois soit en moyenne 28 mois par patient. Onze patients ont présenté au moins une infection péritonéale. Le nombre total d’infections péritonéales était de 24 dont 9 à bacille gram négatif. L’incidence des infections péritonéales était d’un épisode tous les 35 mois-patient. L’infection péritonéale a été responsable du transfert en hémodialyse de deux patients et du décès d’un patient. Quinze patients (50%) ont bénéficié d’une transplantation rénale. Un seul patient a nécessité une néphrectomie préparatoire à la transplantation. Sept patients ont été transférés en hémodialyse avec une médiane de traitement en dialyse péritonéale de 36 mois. Quatre patients sont décédés. Quatre patients sont actuellement traités en dialyse péritonéale.   En conclusion, ce travail rétrospectif montre que la dialyse péritonéale, particulièrement la dialyse péritonéale automatisée nocturne, est une bonne option de traitement en dialyse pour les patients atteints de polykystose rénale

Hypercalcémie sévère de la sarcoïdose et exposition solaire.

National audienc

The clinical status and survival in elderly dialysis: example of the oldest region of France.

International audienceBACKGROUND: The number of elderly (>=75 years) patients with end-stage renal disease (ESRD) has increased markedly, including in the Limousin region, which has the oldest population in France. We retrospectively compared outcomes in elderly and non-elderly ESRD patients who started dialysis during two time periods. METHODS: Baseline clinical characteristics, care, and survival rates were assessed in 557 ESRD patients aged >=75 and =75 years, respectively. Dialysis was started in 2002--2004 and 2005--2007 by 197 and 146 patients =75 years, respectively. Median age (73.4 years [interquartile range [IQR] 61.7-79.5 years] vs 69.5 years [IQR 57.4-77.4 years] p = 0.001) and the proportion aged >=75 years (44.7% vs 32.8%, p = 0.004) were significantly higher in 2005--2007 than in 2002--2004. Improved initial status during 2005--2007 was observed only in patients >=75 years, with a decrease in some co-morbidities, improved walking and better preparation for dialysis. Mortality rates were significantly lower in 2005--2007 than in 2002--2004 (hazard ratio 0.81, 95% confidence interval 0.69-0.95; p = 0.008), with the difference due to factors associated with clinical status and care. CONCLUSIONS: Improved initial clinical status and better preparation for dialysis, accompanied by increased survival, were observed for patients >=75 years who started dialysis more recently, perhaps because of early referral to a nephrologist

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late development of chronic interstitial nephritis leading to progressive renal failure. A locus for FJHN was previously identified on chromosome 16p12 close to the MCKD2 locus, which is responsible for a variety of autosomal-dominant medullary cystic kidney disease (MCKD2). UMOD, the gene encoding the Tamm-Horsfall/uromodulin protein, maps within the FJHN/MCKD2 critical region. Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. A mutation in UMOD has been identified in 11 FJHN families (10 missense and one in-frame deletion)-10 of which are novel-clustering in the highly conserved exon 4. The consequences of UMOD mutations on uromodulin expression were investigated in urine samples and renal biopsies from nine patients in four families. There was a markedly increased expression of uromodulin in a cluster of tubule profiles, suggesting an accumulation of the protein in tubular cells. Consistent with this observation, urinary excretion of wild-type uromodulin was significantly decreased. The latter findings were not observed in patients with FJHN without UMOD mutations. In conclusion, this study points to a mutation clustering in exon 4 of UMOD as a major genetic defect in FJHN. Mutations in UMOD may critically affect the function of uromodulin, resulting in abnormal accumulation within tubular cells and reduced urinary excretion

Stations routières en Gaule romaine

Ce dossier ambitionne de renouveler la documentation sur les stations routières en Gaule romaine et dans les provinces voisines. Le sujet, qui intéresse autant l’histoire politique que l’histoire économique, méritait en effet un nouvel éclairage, à la lumière de données archéologiques récentes qui concernent une période comprise entre la fin de l’époque républicaine et l’Antiquité tardive. Les vocables employés dans les sources écrites pour désigner des établissements d’accueil des voyageurs, si difficiles à cerner soient-ils, sont mis à l’épreuve des faits archéologiques par les chercheurs. L’étude circonstanciée de l’architecture des établissements de bord de route, avec la mise en évidence de modèles architecturaux susceptibles de ressortir, pour certains, d’une politique d’équipement routier de l’État romain, constitue l’essentiel des contributions présentées dans ce dossier. Des recherches micro-régionales démontrent par ailleurs la fréquence et la variété des établissements d’accueil des voyageurs le long des routes des Gaules