Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
The Importance of Artificial Intelligence Literacy in Nursing and Midwifery to Achieve the Sustainable Development Goals: Perspectives From the 80th Session of the United Nations General Assembly. [PDF]
J Nurs ScholarshO'Connor S +8 more
europepmc +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
A Homogeneously Catalyzed Paired Electrolytic Cell for Hydrogen Peroxide Production
Angewandte Chemie, EarlyView.Cu(tmpa) and Sn‐TMPyP are compatible and efficient catalysts for 2e−‐ORR and 2e−‐WOR, respectively, which have been employed to assemble an efficient paired electrochemical cell for H2O2 production. The presence of a carbonate buffer is essential to achieve a high activity in the anode compartment, while control over mass transport is essential for a ...
Caterina Trotta +7 more
wiley +2 more sources
Women's Satisfaction with Midwifery-Led Continuity of Care: Insights from Antenatal, Intrapartum, and Postnatal Experiences in the Sidama Region, Ethiopia. A Non-Randomized Control Trial. [PDF]
Health Serv InsightsFikre R +3 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Midwives' competence and confidence in Kenya: a sequential explanatory study design. [PDF]
BMC Health Serv ResEdna T, Doreen K, Bob M.
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This study employs an intersectionality‐informed latent class analysis (LCA) to examine the hidden diversity of discouraged workers in Australia. Drawing on nationally representative data from the Household, Income and Labour Dynamics in Australia Survey, we identified six empirically distinct subgroups defined by intersecting demographic and ...
Sora Lee, Woojin Kang
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu +7 more
wiley +1 more source