Comprehensive genomic analysis reveals molecular heterogeneity in pediatric ALK-positive anaplastic large cell lymphoma.

Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that accounts for 10-15% of childhood lymphomas. Despite the observation that more than 90% of pediatric cases harbor the anaplastic lymphoma kinase (ALK) rearrangement resulting in aberrant ALK kinase expression, there is significant clinical, morphologic, and biological heterogeneity. To gain insights into the genomic aberrations and molecular heterogeneity within ALK-positive ALCL (ALK+ ALCL), we analyzed 46 pediatric ALK+ ALCLs by whole-exome sequencing, RNA sequencing, and DNA methylation profiling.

Obstructive sleep apnea in 12 to 24 months old toddlers referred for sleep study in a tertiary care center.

Purpose: To assess OSA prevalence, comorbidities, and the influence of sleep stages and body positions on respiratory events distribution in toddlers aged 12-24 months.

Methods: A single center retrospective study that included toddlers aged 12-24 months old who underwent overnight PSG. OSA severity was categorized by obstructive apnea-hypopnea index (OAHI) as mild (1-4.

An advocacy based cross sectional study of healthcare professionals of factors impacting on medication adherence across nine Sub-Saharan African countries.

Background: Adherence to anti-seizure medication (ASM) by people diagnosed with epilepsy in sub-Saharan Africa remains low. The factors for low adherence are not well understood. To improve adherence, it is important to understand the perceptions and views of healthcare professionals delivering epilepsy care to this population.

Evidencing the challenges of care delivery for people with intellectual disability and epilepsy in England by using the Step Together toolkit.

Background: People with intellectual disability (PwID) and epilepsy have increased premature and potentially preventable mortality. This is related to a lack of equitable access to appropriate care. The Step Together guidance and toolkit, developed with patient, clinical, charity and commissioning stakeholders, allows evaluation and benchmarking of essential epilepsy service provision for PwID in eight key domains, at a care system level.