Results 21 to 30 of about 1,058 (195)
Journal of Pediatric and Neonatal Individualized Medicine, 2016 Selected Lectures of the 12th International Workshop on Neonatology • 10 P PEDIATRICS: NOTES FOR THE FUTURE • Cagliari (Italy) • Cagliari (Italy) • October 19th-22nd, 2016 LECT 1. NEONATAL CONGENITAL HEART DISEASE: WHAT'S NEW? • S.
--- Various Authors
doaj +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons +8 more
wiley +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Engineering the Future of Restorative Clinical Peripheral Nerve Surgery
Advanced Healthcare Materials, EarlyView.What if damaged nerves could regenerate more effectively? This review unveils cutting‐edge strategies to restore nerve function, from biomaterial scaffolds and bioactive molecules to living engineered tissues. By accelerating axonal regrowth, preserving Schwann cells, and enhancing connectivity, these approaches are reshaping nerve repair—offering new ...
Justin C. Burrell +5 more
wiley +1 more source
Advanced Materials, EarlyView.In this study, a vaginal specific ECM hydrogel (vECM) is developed, optimized for intravaginal topical administration, and evaluated for mitigatation of vaginal atrophy associated with menopause. When applied in a rat model of menopause, vECM improves vaginal epithelial thickness and stem cell phenotype, and despite topical application, vECM also ...
Emma I. Zelus +6 more
wiley +1 more source
Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine
Advanced Science, EarlyView.Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang +4 more
wiley +1 more source
Wearable Bioelectronics for Home‐Based Monitoring and Treatment of Muscle Atrophy
Advanced Science, EarlyView.As an inevitable disease, muscle atrophy has received more attention. Because the factors that induce this disease are diverse, achieving a complete cure is still impossible. Wearable bioelectronics provides a more comfortable, low‐cost, and efficient way of home care for the monitoring and treatment of muscle atrophy. Therefore, this review summarizes
Shuai Zhang +4 more
wiley +1 more source
Bidirectional Interaction Between the Brain and Bone in Traumatic Brain Injury
Advanced Science, EarlyView.Traumatic brain injury (TBI) disrupts the blood–brain barrier and activates neuroimmune responses, causing metabolic disturbances and long‐term bone mass loss. Concurrent fractures accelerate healing and enhance osteogenesis but disrupt regulatory mechanisms, leading to altered bone dynamics and exacerbating neuroinflammation, complicating recovery ...
Wei Zhang, Jun Zou, Lingli Zhang
wiley +1 more source