Results 51 to 60 of about 107,215 (206)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Respectful language in intrapartum and newborn care

The Lancet Global Health, 2021
Claudia Ravaldi, Alfredo Vannacci, Caroline Homer   +2 more
doaj   +1 more source

Healthcare professionals’ needs when providing perinatal bereavement care: A qualitative study

Journal of Education and Health Promotion
BACKGROUND: Caring for and supporting bereaved parents with fetal loss requires preparation, training, and attention to a set of needs of health workers to provide optimal services.
Giti Atashsokhan, Maryam Farjamfar, Ahmad Khosravi, Mahboobe Taher, Khadige Abadian, Afsaneh Keramat   +5 more
doaj   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Perinatal Grief in the Indian Context: Conceptualizing and Companioning the Grieving Process

Journal of Psychiatry Spectrum
Reproductive loss takes many forms and is almost always a significant loss. In the Indian context, grieving over stillbirths is disenfranchised as the perinatal loss itself is shrouded in stigma, blame, discrimination, mistreatment, or misplaced guilt ...
Yamini Devendran, Vaishalee Saravanan, Veena A. Satyanarayana, C. Savitha, Gayathri Devi, Geetha Desai   +5 more
doaj   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari, Adam C. Frank, Ravi Bansal, Flora M. Vaccarino, Robert A. King, Paul Lombroso, Lawrence Scahill, James F. Leckman, Bradley S. Peterson   +8 more
wiley   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Postnatal craniomandibular growth in Harbor seals (Phoca vitulina vitulina)

The Anatomical Record, EarlyView.
Postnatal ontogeny in Harbor seals (Phoca vitulina vitulina). Cranium and mandible grow rapidly until 5 years of age, followed by a deceleration and finally a stagnation. Abstract As secondarily aquatic carnivores, seals display several phenotypic differences compared to their terrestrial relatives.
Elisabeth Steinbach, Julia Schaar, Christine Böhmer   +2 more
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source