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A conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.
Proc Natl Acad Sci U S A
January 2025
Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.
Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.
View Article and Find Full Text PDFComparing integrative ventilatory and renal acid-base acclimatization in lowlanders and Tibetan highlanders during ascent to 4,300 m.
Proc Natl Acad Sci U S A
January 2025
Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, AB T3E 6K6, Canada.
With over 14 million people living above 3,500 m, the study of acclimatization and adaptation to high altitude in human populations is of increasing importance, where exposure to high altitude (HA) imposes a blood oxygenation and acid-base challenge. A sustained and augmented hypoxic ventilatory response protects oxygenation through ventilatory acclimatization, but elicits hypocapnia and respiratory alkalosis. A subsequent renally mediated compensatory metabolic acidosis corrects pH toward baseline values, with a high degree of interindividual variability.
View Article and Find Full Text PDFThe development of preterm infants from low socio-economic status families: The combined effects of melatonin, autonomic nervous system maturation and psychosocial factors (ProMote): A study protocol.
PLoS One
January 2025
Department of Neonatology/Neonatal Intensive Care Unit, University Hospital of Heraklion, School of Medicine, University of Crete, Heraklion, Crete, Greece.
Preterm births constitute a major public health issue and a chronic, cross-generational condition globally. Psychological and biological factors interact in a way that women from low socio-economic status (SES) are disproportionally affected by preterm delivery and at increased risk for the development of perinatal mental health problems. Low SES constitutes one of the most evident contributors to poor neurodevelopment of preterm infants.
View Article and Find Full Text PDFNew Productive Force: The Preliminary Report of First Craniofacial Surgical Robot IST Multicenter Clinical Trial in China.
J Craniofac Surg
January 2025
Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, School of Medicine, Shanghai Jiao Tong University.
Background: This paper presents the authors' team's research on a craniofacial surgical robot developed in China. Initiated in 2011 with government funding, the craniofacial surgical robot project was officially launched in Shanghai, developed jointly by the Ninth People's Hospital affiliated with Shanghai Jiao Tong University School of Medicine and the Shanghai Jiao Tong University medical-engineering team. Currently, based on multiple rounds of model surgeries, animal experiments, and clinical trials, our team is applying for approval as a Class III medical device from the National Medical Products Administration (NMPA).
View Article and Find Full Text PDFUltrasound pupillometry for the detection of a relative afferent pupillary defect (RAPD): Systematic evaluation in patients with optic neuritis and comparison with infrared video pupillometry.
PLoS One
January 2025
Department of Neurology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Purpose: A relative afferent pupillary defect (RAPD) is a characteristic clinical sign of optic neuritis (ON). Here, we systematically evaluated ultrasound pupillometry (UP) for the detection of an RAPD in patients with ON, including a comparison with infrared video pupillometry (IVP), the gold standard for objective pupillometry.
Materials And Methods: We enrolled 40 patients with acute (n = 9) or past (n = 31) ON (ON+), 31 patients with multiple sclerosis (MS) without prior ON, and 50 healthy controls (HC) in a cross-sectional observational study.
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