Patterns of postmeal insulin secretion in individuals with sulfonylurea- treated KCNJ11 neonatal diabetes show predominance of non- KATP- channel pathways

Insulin secretion in sulfonylurea-treated KCNJ11 permanent neonatal diabetes mellitus (PNDM) is thought to be mediated predominantly through amplifying non-KATP-channel pathways such as incretins. Affected individuals report symptoms of postprandial hypoglycemia after eating protein/fat-rich foods. We aimed to assess the physiological response to carbohydrate and protein/fat in people with sulfonylurea-treated KCNJ11 PNDM.This article is freely available via Open Access. Click on the Publisher URL to access the full-text via the publisher's site

Children's daily travel to school in Johannesburg-Soweto, South Africa: geography and school choice in the Birth to Twenty cohort study

This paper has two aims: to explore approaches to the measurement of children’s daily travel to school in a context of limited geospatial data availability, and to provide data regarding school choice and distance travelled to school in Soweto-Johannesburg, South Africa. The paper makes use of data from the Birth to Twenty cohort study (n=1428) to explore three different approaches to estimating school choice and travel to school. Firstly, straight-line distance between home and school is calculated. Secondly, census geography is used to determine whether a child's home and school fall in the same area. Thirdly, distance data are used to determine whether a child attends the nearest school. Each of these approaches highlights a different aspect of mobility, and all provide valuable data. Overall, primary school aged children in Soweto-Johannesburg are shown to be travelling substantial distances to school on a daily basis. Over a third travel more than 3km, one-way, to school, 60% attend schools outside of the suburb in which they live, and only 18% attend their nearest school. These data provide evidence for high levels of school choice in Johannesburg-Soweto, and that families and children are making substantial investments in pursuit of high quality educational opportunities. Additionally, these data suggest that two patterns of school choice are evident: one pattern involving travel of substantial distances and requiring a higher level of financial investment, and a second pattern, involving choice between more local schools, requiring less travel and a more limited financial investment

The impact of educational attainment on household poverty in South Africa: A case study of Limpopo province

Poverty is a phenomenon that is multidimensional in nature and its meaning varies from one individual to another (Alkire and Foster 2011; Batana 2013; Bossert, Chakravarty, and D'Ambrosio 2013; Jansen et al. 2015). It can be seen as a failure to attain certain capabilities, absolute or relative,2 or a lack of income to meet a certain standard of living in a given society (Jansen et al. 2015). It can be chronic or temporary3, is often linked with underdevelopment, economic exclusion and vulnerabilities, and sometimes closely correlated with inequality (Mbuli 2008; Van der Berg 2008; Jansen et al. 2015). The definition of poverty employed determines its measurement

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 ± 12.4 years, range 0.1-45). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed. MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%) and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed. This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of 'neuro-MEDopathies'