Atteinte ostéomédullaire dans la sarcoïdose de l'enfant. A propos d'un cas et revue de la littérature

REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1 -Related Myopathies

International audienceSelenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young SEPN1-RM patients who are still able to walk. We report here the cases of two children with SEPN1-RM who presented with SDB at the ages of 7 and 12 years and for whom long-term nocturnal noninvasive ventilation yielded significant improvement. Based upon literature review and our current cases, it seems that there is no obvious relationship between time since SDB onset and outcome of pulmonary function tests or limb muscle weakness. We therefore suggest that sleep-disordered breathing should systematically be screened for in patients with SEPN1-RM, at regular intervals using nocturnal polysomnography

Abnormal bleeding phenotype for mild haemophilia B patients with the p.Ile112Thr variation on the gene for factor IX

International audienc

PHYTOBS dataset - French National Service of Observation for Phytoplankton in coastal waters

The PHYTOBS dataset includes long-term time series on marine microphytoplankton, since 1987, along the whole French metropolitan coast. Microphytoplankton data cover microscopic taxonomic identifications and counts. The whole dataset is available, it includes 25 sampling locations.PHYTOBS network studies microphytoplankton diversity in the hydrological context along French coasts under gradients of anthropogenic pressures. PHYTOBS network allows to analyse the responses of phytoplankton communities to environmental changes, to assess the quality of the coastal environment through indicators, to define ecological niches, to detect variations in bloom phenology, and to support any scientific question by providing data.The PHYTOBS network provides the scientific community and stakeholders with validated and qualified data, in order to improve knowledge regarding biomass, abundance and composition of marine microphytoplankton in coastal and lagoon waters in their hydrological context.PHYTOBS originates of two networks. The historical REPHY (French Observation and Monitoring program for Phytoplankton and Hydrology in coastal waters) supported by Ifremer since 1984 and the SOMLIT (Service d'observation en milieu littoral) supported by INSU-CNRS since 1995. The monitoring has started in 1987 on some sites and later in others.Hydrological data are provided by REPHY or SOMLIT network as a function of site locations

Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients

International audienceThe aim of this study was to estimate the incidence of COVID-19 disease in the French national population of dialysis patients, their course of illness and to identify the risk factors associated with mortality. Our study included all patients on dialysis recorded in the French REIN Registry in April 2020. Clinical characteristics at last follow-up and the evolution of COVID-19 illness severity over time were recorded for diagnosed cases (either suspicious clinical symptoms, characteristic signs on the chest scan or a positive reverse transcription polymerase chain reaction) for SARS-CoV-2. A total of 1,621 infected patients were reported on the REIN registry from March 16th, 2020 to May 4th, 2020. Of these, 344 died. The prevalence of COVID-19 patients varied from less than 1% to 10% between regions. The probability of being a case was higher in males, patients with diabetes, those in need of assistance for transfer or treated at a self-care unit. Dialysis at home was associated with a lower probability of being infected as was being a smoker, a former smoker, having an active malignancy, or peripheral vascular disease. Mortality in diagnosed cases (21%) was associated with the same causes as in the general population. Higher age, hypoalbuminemia and the presence of an ischemic heart disease were statistically independently associated with a higher risk of death. Being treated at a selfcare unit was associated with a lower risk. Thus, our study showed a relatively low frequency of COVID-19 among dialysis patients contrary to what might have been assumed