Results 51 to 60 of about 13,060,359 (252)

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito   +8 more
wiley   +1 more source

Novel inflammatory markers for predicting adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome: a retrospective case‒control study

open access: yesBMC Pregnancy and Childbirth
Objective To investigate the potential predictive value of novel inflammatory markers for adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome (PCOS). Methods A retrospective case‒control study was conducted.
Na Pan   +6 more
doaj   +1 more source

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

open access: yesBMC Medical Genomics, 2023
Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris.
Yanan Wang   +3 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova   +9 more
wiley   +1 more source

Generative Artificial Intelligence Utilization and Perspectives Among Reproductive‐Age Women With Systemic Autoimmune and Rheumatic Diseases

open access: yesArthritis Care &Research, EarlyView.
Objective Reproductive‐age women with systemic autoimmune and rheumatic diseases (SARDs) have unique information needs related to their SARDs and reproductive health. We sought to understand their use of and receptivity to current and hypothetical generative artificial intelligence (AI) tools for health information‐seeking. Methods We conducted a cross‐
Mariam Arif   +5 more
wiley   +1 more source

GDNF‐Enriched Small Extracellular Vesicle‐Loaded ROS‐Scavenging Hydrogel Promotes Neural Regeneration After Spinal Cord Injury

open access: yesAdvanced Healthcare Materials, EarlyView.
A glial cell line‐derived neurotrophic factor (GDNF)‐enriched small extracellular vesicle‐loaded reactive oxygen species (ROS)‐scavenging hydrogel integrates sustained neurotrophic delivery with local modulation of oxidative and inflammatory stress after spinal cord injury. The composite hydrogel improves local vesicle retention, protects neural tissue,
Xingyu Zhu   +13 more
wiley   +1 more source

Chemical Screening Identifies Danofloxacin as a Self‐Renewal Agonist of Embryonic Stem Cells through Alleviation of HDAC1‐Mediated Deacetylation of Tert and Prdm10

open access: yesAdvanced Science, EarlyView.
This study identified Danofloxacin as a novel supporter of the maintenance of mouse embryonic stem cell (ESC) pluripotency. It functions partially by inhibiting HDAC1, which increases specific histone acetylation marks and activates key genes like Tert and Prdm10.
Yan Zhang   +8 more
wiley   +1 more source

Targeted Restoration of the Microbial Tryptophan Oxidative Pathway Ameliorates Autism‐Like Behavioral and Synaptic Deficits

open access: yesAdvanced Science, EarlyView.
ABSTRACT Autism Spectrum Disorder (ASD) is associated with gut microbiota dysbiosis, yet the contribution of specific microbial metabolic pathways remains unclear. Reanalysis of a public ASD cohort revealed reduced functional potential in microbial tryptophan oxidative metabolism.
Rui Guo   +14 more
wiley   +1 more source

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