Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Mise en place d'une stratégie de caractérisation d'E. coli pathogène dans des eaux destinées à la production d'eau d'alimentation

Présentation à la journée scientifique annuelle de la Zone Atelier Moselle (ZAM

Long-Term Infectivity of Chikungunya Virus Stored in the Dark at 4°C

International audienceWe call into question the established dogma that viruses with envelopes and RNA genomes have limited stability by demonstrating the staggering long-term viability, ∼2 years, of chikungunya virus when stored in liquid environments at +4°C in the dark. We contend that our understanding of the infectivity of a variety of enveloped viruses requires a new approach to identify under standardized conditions the primary determinants of their viability

United Kingdom National Ophthalmology Database Study of Vitreoretinal Surgery:report 1; case mix, complications, and cataract

AIM: To report the vitreoretinal (VR) surgical case mix in the United Kingdom, the intraoperative complication rate of pars plana vitrectomy (PPV), and the incidence of post-vitrectomy cataract extraction. METHODS: Participating hospitals prospectively collected ophthalmic data using a single electronic medical record system, with automatic extraction of anonymised data to a national database. This study included the subset of 11 618 VR operations undertaken on 9619 eyes, of 8741 patients, over 8 years, from 27 sites. Surgical data included the indication for surgery, all procedure elements, and whether or not an intraoperative complication occurred. Post-vitrectomy cataract data were also analysed. The main outcome measures were a description of the indications for surgery, intraoperative PPV complication rate, and percentage of eyes undergoing post-vitrectomy cataract surgery (PVCS). RESULTS: The most common indications for VR intervention were retinal breaks and rhegmatogenous retinal detachment (48.5%), macular hole (9.8%), epiretinal membrane (9.6%), and diabetic eye disease (7.3%). Overall, 7.8% of PPVs had at least one intraoperative complication—the most common were iatrogenic retinal breaks (3.2%), and lens touch (1.2–1.6% of phakic eyes). PVCS occurred in 50.2, 68.7, and 74.0% of eyes at 1, 2, and 3 years, respectively. CONCLUSION: VR surgery is undertaken for a wide range of conditions, but a small number of diagnoses encompass the majority of cases. Intraoperative PPV complications are not uncommon, and post-vitrectomy cataract is to be expected in most phakic eyes