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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 PDFCorrection: Acceptability and Initial Adoption of the Heart Observation App for Infants With Congenital Heart Disease: Qualitative Study.
JMIR Form Res
January 2025
Department of Public Health Science, Institute of Health and Society, Faculty of Medicine, University of Oslo, Oslo, Norway.
[This corrects the article DOI: 10.2196/45920.].
View Article and Find Full Text PDFThe impact of lower thoracic versus upper lumbar upper instrumented vertebra in minimally invasive correction of adult spinal deformity.
J Neurosurg Spine
January 2025
15Department of Neurological Surgery, University of California, San Francisco, California.
Objective: The goal of this study was to compare the impact of using a lower thoracic (LT) versus upper lumbar (UL) level as the upper instrumented vertebra (UIV) on clinical and radiographic outcomes following minimally invasive surgery for adult spinal deformity.
Methods: A multicenter retrospective study design was used. Inclusion criteria were age ≥ 18 years, and one of the following: coronal Cobb angle > 20°, sagittal vertical axis > 50 mm, pelvic tilt > 20°, pelvic incidence-lumbar lordosis mismatch > 10°.
Comparing the Accuracy and Reliability of ABC/2 and Planimetry for Vestibular Schwannoma Volume Assessment.
Otol Neurotol
February 2025
Department of Radiology, Yale School of Medicine, New Haven, CT.
Background: Vestibular schwannoma (VS) is a common intracranial tumor that affects patients' quality of life. Reliable imaging techniques for tumor volume assessment are essential for guiding management decisions. The study aimed to compare the ABC/2 method to the gold standard planimetry method for volumetric assessment of VS.
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