Diagnostic yield of next-generation sequencing in very early-onset inflammatory bowel diseases: a multicenter study (vol 12, pg 1104, 2021)

Transplantation and immunomodulatio

Un diagnostic d’alimentation de ruminants « qui parle aux éleveurs ». Comparaison avec un protocole classique

In livestock farming, managing feed costs is important. In the field, several diagnostic tools are used to assess feeding systems; in some cases, the intent is for livestock farmers to reappropriate the methods. Here, we compared the results obtained using a traditional diagnostic method with the results obtained using OBSALIM (R), a method developed by the farmers' association Eleveurs Autrement. The two methods were independently applied to 17 batches of animals (from beef cattle, dairy cow, and dairy sheep systems). Comparative analysis was carried out at two levels: feeding systems were assessed i) overall (i.e., to detect the presence or absence of ration imbalance) and ii) in greater detail (i.e., to identify underlying factors if imbalance was present). The methods yielded very similar results for the overall assessment. However, the detailed assessment revealed differences between the two approaches.Pour répondre aux enjeux agricoles de demain, la bonne maîtrise des charges d’alimentation est un point important en élevage. Sur le terrain, plusieurs protocoles de diagnostic d’alimentation sont utilisés dont certains reposent sur une réappropriation par les éleveurs. Deux protocoles de diagnostic du système d’alimentation sont ici comparés : un protocole basé sur des indicateurs et outils proposés par les organismes de recherche-développement et un autre utilisé par l’association « Eleveurs Autrement » et basé sur l'outil OBSALIM®. Ces protocoles ont été conduits indépendamment sur 17 lots d’animaux (systèmes bovins lait et viande et ovin lait). La comparaison est réalisée à deux niveaux : i) le diagnostic global (la ration est équilibrée ou à équilibrer), ii) l’analyse détaillée (qui précise le type de déséquilibre). Les conclusions des 2 protocoles sont très proches pour le diagnostic global d’alimentation, bien que l’analyse détaillée montre des différences dans les observations

Diagnostic yield of next-generation sequencing in very early-onset inflammatory bowel diseases: A multicentre study

Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: Predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD