Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional
dystrophin in the muscle cells. Major advances have led to the development of gene …

Dementia poses a growing challenge for health services but remains stigmatized and under‐
recognized. Digital technologies to aid the earlier detection of dementia are approaching …

Nonalcoholic fatty liver disease (NAFLD) is becoming a frequent liver disease, especially in
patients with metabolic syndrome and especially in Western countries. Complications of …

IJNS | Free Full-Text | Towards Next-Generation Sequencing (NGS)-Based Newborn
Screening: A Technical Study to Prepare for the Challenges Ahead Next Article in Journal …

Background Screening for lung cancer with low radiation dose computed tomography
(LDCT) has a strong evidence base. The European Council adopted a recommendation in …

Countries' increases in testing capacity during the first waves of the COVID-19 pandemic,
coupled with reductions in case numbers between waves, have resulted in shifts from …

The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases
eligible for population-based screening. With the introduction of next-generation sequencing …

Determining the scope of a newborn screening program is a challenging health policy issue.
Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical …

A recent report on screening in the UK proposed that the responsibility for recommendations
on population and targeted screening programmes should be held by one new integrated …

Background Observational studies using large-scale databases and biobanks help improve
prevention and treatment of sudden cardiac arrest (SCA) but the lack of guidance on data …