Hutchinson-Gilford syndrome, also known as progeria, is a rare genetic disorder that causes premature and accelerated ageing from the neonatal period. The disease is caused by de novo mutations in the LMNA gene. Patients present with a range of symptoms, including skin, bone, joint and cardiac disorders, as well as characteristic facial dysmorphia.
View Article and Find Full Text PDFIntroduction: Children with focal epilepsy often present with executive functions (EFs) deficits. EFs deficits can contribute to adaptive challenges and have a negative impact on academic achievement. The purpose of this study was to investigate the EFs profiles of children diagnosed with frontal lobe epilepsy or temporal lobe epilepsy.
View Article and Find Full Text PDFThe proposal for a regulation on the European Health Data Space (EHDS) contains provisions that would significantly change health data management systems in European member states (MS). This article presents results of a country mapping exercise conducted during the Joint Action 'Towards the European Health Data Space' (TEHDAS) in 2022. It presents the state-of-play of health data management systems in 12 MS and their preparedness to comply with the EHDS provisions.
View Article and Find Full Text PDFDev Med Child Neurol
March 2025
This commentary is on the original article by Eyre et al. on pages 392–404 of this issue.
View Article and Find Full Text PDFBackground: There is substantial evidence on the associations between a positive nurse practice environment and improved nurse and patient outcomes, as well as the factors that mediate these associations, in high-income countries and in hospital settings. The knowledge gaps in African and primary health care settings motivated this empirical study.
Objective: The objective of this study was to examine the impact of the dimensions of the nurse practice environment, specifically human resource management, foundations for nursing care, and participation in clinic affairs, on job outcomes and standards of care.