Month: <span>July 2025</span>
Month: July 2025

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy

Ital J Pediatr. 2025 Jul 8;51(1):214. doi: 10.1186/s13052-025-02058-9. ABSTRACT BACKGROUND: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder caused …

Liberation from continuous renal replacement therapy due to renal recovery in adults and children: a literature review and Delphi consensus on clinical practice

Crit Care. 2025 Jul 8;29(1):287. doi: 10.1186/s13054-025-05517-1. ABSTRACT BACKGROUND: There is no current consensus on the appropriate timing for discontinuing continuous renal replacement therapy (CRRT). …

Aging modulates the immunosuppressive, polarizing and metabolic functions of blood-derived myeloid-derived suppressor cells (MDSCs)

Immun Ageing. 2025 Jul 8;22(1):29. doi: 10.1186/s12979-025-00524-w. ABSTRACT BACKGROUND: Immunosenescence describes the gradual remodeling of immune responses, leading to disturbed immune homeostasis and increased susceptibility …

Exploring Suicide-Related Internet Use Among Suicidal Mental Health Patients in the United Kingdom: Cross-Sectional Questionnaire Study

JMIR Ment Health. 2025 Jul 8;12:e70458. doi: 10.2196/70458. ABSTRACT BACKGROUND: The dual nature of suicide-related internet use (SRIU) as preventative or harmful is well-documented, but …

Influence of Personal Traits, Social Relationships, and External Resources on the Development of Emotional Resilience in Children From East London: Protocol for an Observational Accelerated Longitudinal Cohort Study

JMIR Res Protoc. 2025 Jul 8;14:e70797. doi: 10.2196/70797. ABSTRACT BACKGROUND: Emotional resilience is a dynamic process by which individuals may prevent, overcome, and thrive following …

Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data

Ultrasound Obstet Gynecol. 2025 Jul 8. doi: 10.1002/uog.29290. Online ahead of print. ABSTRACT OBJECTIVES: To evaluate: (i) the performance of the National Health Service (NHS) …