Results 161 to 170 of about 49,489 (300)

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

open access: yesClinical Genetics, EarlyView.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts   +8 more
wiley   +1 more source

Dual Role of Natural Killer Cells in Early Pregnancy: Immunopathological Implications and Therapeutic Potential in Recurrent Spontaneous Abortion and Recurrent Implantation Failure

open access: yesCell Proliferation, EarlyView.
This article elaborates on the role of NK cells in early pregnancy from multiple perspectives, including molecular mechanisms and therapeutic interventions. It also discusses how NK cell dysfunction contributes to RSA and RIF, aiming to provide insights for future research on NK cell mechanisms and clinical treatment of RSA and RIF.
Defeng Guan   +5 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve   +26 more
wiley   +1 more source

Patient Agitation in the Intensive Care Unit: A Concept Analysis

open access: yesJournal of Advanced Nursing, EarlyView.
ABSTRACT Aim Exploring the concept of patient agitation in the intensive care unit. Background Patient agitation in the intensive care unit is of widespread concern and linked to negative outcomes for patients, staff, and family members. There is currently no consensus on what constitutes agitation in the intensive care context, hindering effective and
Anne Mette N. Adams   +7 more
wiley   +1 more source

Clinical value of high‐frequency ultrasound and serum miR‐92a‐3p in diabetic peripheral neuropathy

open access: yesJournal of Diabetes Investigation, EarlyView.
Serum miR‐92a‐3p and CSAs of median, ulnar, and tibial nerves are elevated in DPN patients. Their combination has high diagnostic significance in identifying DPN in T2DM patients and assessing its severity. ABSTRACT Aims/Introduction Cross‐sectional area (CSA) by high‐frequency ultrasound (HF‐US) detects morphologic changes in neuropathy. microRNA (miR)
Chunmei Qiao   +6 more
wiley   +1 more source

Association Between Breastfeeding and Neurodevelopment at 6 Years of Age in the French PELAGIE Birth Cohort

open access: yesJournal of Midwifery &Women's Health, EarlyView.
Introduction Breastfeeding has been shown to be associated with improved child cognitive performance, but the causality of this association is still debated because it tends to disappear when accounting for maternal cognitive performance and socioeconomic status.
Marion Monperrus   +12 more
wiley   +1 more source

Home - About - Disclaimer - Privacy