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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFEmployment of a Newly Defined In Vitro Fertilization Protocol to Determine the Cytoskeletal Machinery, DNA Damage, and Subsequent DNA Repair Resulting from Endocrine Disruption by Hexavalent Chromium in Rat Metaphase II Oocytes.
Curr Protoc
December 2024
Department of Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas.
These protocols describe a detailed method to determine the DNA damage and F-actin and microtubule defects of metaphase II oocytes caused by hexavalent chromium, Cr(VI), an endocrine disrupting chemical (EDC). The protocol provides systematic steps to determine protein expression encoded by pluripotency proteins such as Oct4, Nanog, and Cdx2 during early embryonic development. Occupational or environmental exposure to EDCs has significantly increased infertility in both men and women.
View Article and Find Full Text PDFSex and APOE ε4 allele differences in longitudinal white matter microstructure in multiple cohorts of aging and Alzheimer's disease.
Alzheimers Dement
December 2024
Vanderbilt Memory and Alzheimer's Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Introduction: The effects of sex and apolipoprotein E (APOE)-Alzheimer's disease (AD) risk factors-on white matter microstructure are not well characterized.
Methods: Diffusion magnetic resonance imaging data from nine well-established longitudinal cohorts of aging were free water (FW)-corrected and harmonized. This dataset included 4741 participants (age = 73.
Intraoperative OCT evaluation of the stability and centering of carlevale IOL with different intrascleral fixation techniques.
Eur J Ophthalmol
December 2024
Department of Ophthalmology, ARNAS Civico Hospital, Palermo, Italy.
Background: To evaluate intrascleral plug stability and correct centring of the IOL in three different surgical techniques using intraoperative anterior segment OCT.
Methods: This retrospective scientific study was conducted by reviewing patient records from the Ophthalmology Unit at the Civico Hospital of Palermo, covering the period between 2021 and 2022. Three distinct groups of patients, each consisting of 7 eyes from 7 individual patients, were included in this study.
ORACLE: An analytical approach for T, T, proton density, and off-resonance mapping with phase-cycled balanced steady-state free precession.
Magn Reson Med
December 2024
Department of Diagnostic, Interventional and Pediatric Radiology (DIPR), Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Purpose: To develop and validate a novel analytical approach simplifying , , proton density (PD), and off-resonance quantifications from phase-cycled balanced steady-state free precession (bSSFP) data. Additionally, to introduce a method to correct aliasing effects in undersampled bSSFP profiles.
Theory And Methods: Off-resonant-encoded analytical parameter quantification using complex linearized equations (ORACLE) provides analytical solutions for bSSFP profiles.
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