Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genkyst cohort and confirmed that renal survival associated with PKD2 mutations was approximately 20 years longer than that associated with PKD1 mutations. The median age at onset of ESRD was 58 years for PKD1 carriers and 79 years for PKD2 carriers. Regarding the allelic effect on phenotype, in contrast to previous studies, we found that the type of PKD1 mutation, but not its position, correlated strongly with renal survival. The median age at onset of ESRD was 55 years for carriers of a truncating mutation and 67 years for carriers of a nontruncating mutation. This observation allows the integration of genic and allelic effects into a single scheme, which may have prognostic value.

The coronavirus disease 2019 (COVID-19) pandemic has caused a huge demand for alcoholbased hand rubs, medical gloves, face masks, and gowns in healthcare and from the public. More and more hospitals face a serious shortage of these articles. We propose a risk-adapted approach to ensure adequate patient and healthcare worker safety for as long as possible.

The results provide to our knowledge the first data on the role of colonized patients as potential sources of P. jirovecii in a context of nosocomial acquisition of the fungus.

The cardinal symptoms of primary SS (dryness, pain, and fatigue, best assessed using the ESSPRI) are stronger predictors of HRQOL impairment than systemic involvement (assessed by the ESSDAI) and should be used as end points in future therapeutic trials focusing on patients' well-being. New consensual and data-driven response criteria are needed for primary SS studies.

SUMMARY A systematic literature review was performed to assess the impact of surgical-staff behaviors on the risk of surgical site infections. Published data are limited, heterogeneous, and weakened by several methodological flaws, underlying the need for more studies with accurate tools. OBJECTIVE To assess the current literature regarding the impact of surgical-staff behaviors on the risk of surgical-site infection (SSI). DESIGN Systematic literature review. METHODS We searched the Medline, EMBASE, Ovid, Web of Science, and Cochrane databases for original articles about the impact of intraoperative behaviors on the risk of SSI published in English before September 2013. RESULTS We retrieved 27 original articles reporting data on number of people in the operating room (n=14), door openings (n=14; number [n=6], frequency [n=7], reasons [n=4], or duration [n=3]), surgical-team discipline (evidence of distraction; n=4), compliance with traffic measures (n=6), or simulated behaviors (n=3). Most (59%) articles were published in 2009-2013. End points were the 30-day SSI rate (n=8), air-particle count (n=2), or microbiological air counts (n=6); 11 studies were only descriptive. Number of people in the operating room and SSI rate or airborne contaminants (particle/bacteria) were correlated in 2 studies. Door openings and airborne bacteria counts were correlated in 2 observational studies and 1 experimental study. Two cohort studies showed a significant association between surgeon interruptions/distraction or noise and SSI rate. The level of evidence was low in all studies. CONCLUSIONS Published data about the impact of operating-room behaviors on the risk of infection are limited and heterogeneous. All studies exhibit major methodological flaws. More studies with accurate tools should be performed to address the influence of operating room behaviors on the infectious risk.

Microbiological culture technique, mainly incubation duration, strongly influenced the results of endoscope sampling. Samples should be cultured for more than 2 days to improve the detection of contaminated endoscopes. Particular attention should be paid to endoscopes older than 2 years and to those that are not stored in storage cabinets for heat-sensitive endoscopes.

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BackgroundCystic fibrosis (CF) is an autosomal recessive disorder whose incidence has long been estimated as 1/2500 live births in Caucasians. Expanding implementation of newborn screening (NBS) programs now allows a better monitoring of the disease incidence, what is essential to make reliable predictions for disease management. This study assessed time trends in the birth incidence of CF over a long period (35 years: 1975-2009) in an area where CF is frequent (Brittany, France) and where NBS has been implemented for more than 20 years.MethodsThis study enrolled CF patients born in Brittany between January 1st 1975 and December 31st 2009 (n = 483). Time trends in incidence were examined using Poisson regression and mainly expressed using the average percent change (APC).ResultsThe average number of patients born each year declined from 18.6 in the late 1970's (period 1975-79) to 11.6 nowadays (period 2005-09). The corresponding incidence rates dropped from 1/1983 to 1/3268, which represented a decline close to 40% between these two periods (APC = -39.3%, 95% CI = -55.8% to -16.7%, p = 0.0020). A clear breakpoint in incidence rate was observed at the end of the 1980's (p < 0.0001). However, the incidence rate has remained quite stable since that time (annual APC = -1.0%, 95% CI = -3.0% to 1.1%, p = 0.3516).ConclusionsThis study provides an accurate picture of the evolution of the incidence of a genetic disease over a long period and highlights how it is influenced by the health policies implemented. We observed a 40% drop in incidence in our area which seems consecutive to the availability of prenatal diagnosis.