Télémédecine et Dialyse

National audienceLes données de la littérature font état d'expériences très marginales de télémédecine en dialyse péritonéale (DP). Ces expériences se limitent à la transmission de données et/ou d'images par les nouvelles voies de communication. Cette étude présente une application originale et innovante de la télémédecine dans le domaine de la DP. Le système DIATELIC (Surveillance Interactive et Coopérative des Dialysés) ajoute à l'optimisation de la transmission de données via intra/internet, un système expert élaboré détectant des anomalies d'apparition progressive voire imperceptible. Ce système expert "intelligent" utilise 5 règles d'interprétation simultanée utilisant des données initiales simples: Poids, tension artérielle (TA), TA différentielle, TA orthostatique, Ultrafiltration péritonéale. Ces règles déclenchent des alertes à partir de valeurs fixes pré- établies, mais également à partir des valeurs moyennes mesurées pendant les 15 jours précédents. L'utilisation routinière de ce système, opérationnel depuis plus d'un an, est concluante. Pour le médecin, l'utilisation d'un tel système change radicalement le suivi du malade en DP. L'accès quotidien aux données du malade se rapproche plus d'une surveillance de type hospitalière, et la messagerie intégrée facilite les contacts. Pour le malade, une impression de sécurité est constamment rapportée, le système expert prévenant à la fois le centre et le patient en cas d'anomalie. La télémédecine, en plein développement, représentera probablement un enjeu de santé publique majeur lorsque les études du rapport coût/bénéfice auront démontré son utilité

Telemedicine and dialysis

Colloque avec actes et comité de lecture. internationale.International audienceInformation found in the literature presents only marginal experiences concerning telemedicine in regards to peritoneal dialysis (PD). These experiences are limited to the transmission of data and/or images using new methods of communication. This article presents a new and innovative application of telemedicine in the field of PD and describes its characteristics in comparison to other telemedicine systems. In addition to optimizing the transmission of data via intra/internet, the DIATELIC (Interactive and Cooperative Monitoring of Dialysis Patients) system has an expert system designed to detect anomalies which can appear progressively and imperceptibly. This intelligent expert system uses six rules of interpretation simultaneously using basic initial data: Weight, blood pressure, differential blood pressure, orthostatic blood pressure, peritoneal ultrafiltration. These rules enable the system to give warning signs based on values which are pre-established or calculated using the averages of the previous 15 days. Routine use of this system operational now for over a year is conclusive. For the doctor, this system radically changes the way medical team follow-up on the patient. Daily access to the information concerning the patient resembles more a hospital-like setting and the integrated message service facilitates the contacts. For the patient, the sense of security derived from the expert system which notifies both the center and the patient in case of an anomaly is often mentioned. Telemedicine, which is in full development, will likely represent a major revolution for the public health system when the studies on the cost/benefit ratio reveal its utility

Effects of eight neuropsychiatric copy number variants on human brain structure

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

eChronic/eNephro : Evaluation d'un système de Télésurveillance pour la prise en charge des patients atteints de Maladie Rénale Chronique

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