Diagnosing cystic fibrosis in South Africa

Cystic fibrosis (CF) occurs in all South Africa’s population groups. While well described in the white and coloured populations, its presence in black African populations is less well known. Recent evidence from the group of CF patients in the Western Cape suggests an incidence of 1 in 3 000 and 1 in 10 300 live births in the white and coloured populations respectively.1 In black South African populations, carrier frequency estimates have been used to project an incidence of 1 in 4 624 live births.2 Further evidence of the presence of CF in these populations is presented in this issue of the Journal. 3 While considering or being aware of the diagnosis is the first step in identifying CF, diagnosing the disease presents challenges at clinical and laboratory levels in South Africa. In simple terms, the diagnosis of CF requires a patient to have suggestive clinical features as well as 2 positive sweat tests and/or 2 identified disease-causing CF transmembrane conductance regulator (CFTR) gene mutations

Des services intégrés de l’enfance pour tous en Angleterre

L’expansion et l’amélioration des services destinés à la petite enfance et aux familles ont été un enjeu politique majeur au Royaume-Uni depuis 1997. Beaucoup a été fait, notamment à travers la stratégie nationale de protection de l’enfance et de nombreuses initiatives gouvernementales comme les programmes Sure Start, Early Excellence et les programmes de proximité dont le but est de développer les services à la petite enfance accessibles à tous les enfants et à toutes les familles, particulièrement dans les communes défavorisées. Ces programmes se donnent pour objectif d’élever le niveau de réussite éducative ; d’accroître l’employabilité et la productivité des parents ; de réduire le nombre d’enfants pauvres ; d’améliorer la santé ; de réduire l’exclusion sociale ; de promouvoir l’égalité des chances ; d’améliorer la qualité des services publics et de garantir leur accès.The expansion and improvement of services for young children and families has been a key aim for the UK Government since 1997. Much work has been done, particularly through the National Childcare Strategy and a range of other Government initiatives, including the Sure Start, Early Excellence and Neighbourhood Nurseries Programmes which aim to develop early childhood services for all children and families, and particularly for those living in disadvantaged communities. These developments are intended to: raise educational achievement; increase parent employment and productivity; reduce child poverty; improving health; reduce social exclusion; promote equal opportunities; improve quality and access to public services.La expansión y la mejora de los servicios destinados a la pequeña infancia y a las familias, han constituido un desafío político de gran importancia en Reino Unido desde el año 1997. Se han registrado grandes avances, concretamente mediante la estrategia nacional de protección de la infancia y múltiples iniciativas gubernamentales, como los programas Sure Start, Early Excellence y los programas de proximidad cuyo objetivo radica en desarrollar los servicios destinados a la pequeña infancia, accesibles a todos los niños y a todas las familias, concretamente en los municipios desfavorecidos. Estos programas se han fijado el objetivo de aumentar el nivel de éxito educativo, mejorar las condiciones de empleo y la productividad de los padres, reducir el número de niños pobres, mejorar la salud, reducir la exclusión social, promover la igualdad de oportunidades, mejorar la calidad de los servicios públicos y garantizar el acceso a los mismos

Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder

Notwithstanding several research efforts in the past years, robust and replicable molecular signatures for autism spectrum disorders from peripheral blood remain elusive. The available literature on blood transcriptome in ASD suggests that through accurate experimental design it is possible to extract important information on the disease pathophysiology at the peripheral level. Here we exploit the availability of a resource for molecular biomarkers in ASD, the Italian Autism Network (ITAN) collection, for the investigation of transcriptomic signatures in ASD based on a discordant sibling pair design. Whole blood samples from 75 discordant sibling pairs selected from the ITAN network where submitted to RNASeq analysis and data analyzed by complementary approaches. Overall, differences in gene expression between affected and unaffected siblings were small. In order to assess the contribution of differences in the relative proportion of blood cells between discordant siblings, we have applied two different cell deconvolution algorithms, showing that the observed molecular signatures mainly reflect changes in peripheral blood immune cell composition, in particular NK cells. The results obtained by the cell deconvolution approach are supported by the analysis performed by WGCNA. Our report describes the largest differential gene expression profiling in peripheral blood of ASD subjects and controls conducted by RNASeq. The observed signatures are consistent with the hypothesis of immune alterations in autism and an increased risk of developing autism in subjects exposed to prenatal infections or stress. Our study also points to a potential role of NMUR1, HMGB3, and PTPRN2 in ASD