Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study.

This article obtains an overview of the health status of children and adolescents with neurofibromatosis type 1 (NF1) with a focus on the clinical course of the disease, neuropsychodiagnostic findings, and their impact on quality of life (QoL). In this observational study, data were collected from 24 children and adolescents with NF1 who were cared for at the University Hospital in Innsbruck, Austria, from 2008 to 2022. Data were collected every 6 to 12 months from routine check-ups, including clinical features and imaging findings.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases transfer ADP-ribose from NAD to the target protein, and ADP-ribosylhydrolases, such as ADPRHL2, reverse the reaction. We used exome sequencing to identify five different bi-allelic pathogenic ADPRHL2 variants in 12 individuals from 8 families affected by a neurodegenerative disorder manifesting in childhood or adolescence with key clinical features including developmental delay or regression, seizures, ataxia, and axonal (sensori-)motor neuropathy.

Imaging-based disease pattern in a consecutive series of cranial CTs and MRIs in a rural and an urban Tanzanian hospital: a comparative, retrospective, neuroradiological analysis.

The prevalence of neurological diseases and cranial pathologies in sub-Saharan Africa remains a very little investigated field. This study aims at providing an imaging-based overview of cranial pathologies in two Tanzanian hospitals and at identifying possible differences in the spectrum of diseases between rural and urban African populations. At rural Haydom Lutheran Hospital (Manyara region) the data of 726 patients were included in a retrospective survey.

Prevalence and pattern of spinal pathologies in a consecutive series of CTs/MRIs in an urban and rural Tanzanian hospital--a retrospective neuroradiological comparative analysis.

The prevalence of spinal pathologies in sub-saharan Africa has received little attention so far. The aim of the survey was to investigate and compare the prevalence pattern of spinal lesions in two different populations of Tanzania, one coming from the urban and semi-urban catchment area of Aga Khan Hospital in Dar es Salaam and the other coming from the rural catchment area of Haydom Lutheran Hospital in Mbulu, northern Tanzania. At the Aga Khan Hospital a total number of 1163 patients were included in the survey.