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http://dx.doi.org/10.1007/s10238-025-01732-w | DOI Listing |
Biol Open
September 2025
Departments of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, R3T 2N2, Canada.
The GM2 gangliosidoses are lysosomal storage disorders exhibiting a spectrum of neurological phenotypes ranging from childhood death to debilitating adult-onset neurological impairment. To date, no mouse model harbouring a specific human mutation causing GM2 gangliosidosis has been created. We used CRISPR/Cas9 to generate knockin (KI) mice with the common adult-onset Hexa Gly269Ser variant as well as knockout (KO) mice with Hexa mutations expected to cause complete HexA deficiency.
View Article and Find Full Text PDFPhys Chem Chem Phys
September 2025
Department of Chemistry and Sustainable Technology, University of Eastern Finland, Joensuu Campus, Yliopistokatu 7, FI-80100, Joensuu, Finland.
Accurate thermodynamic calculations for aluminum alkyls require proper treatment of low-frequency vibrations poorly described by the harmonic approximation (HA). Here, we present a systematic investigation of hindered rotation and out-of-plane bending in aluminum trichloride (ATC) and its methyl derivatives, employing advanced computational methods to perform anharmonic entropy corrections, such as torsional eigenvalue summation (TES), the extended two-dimensional torsion method (E2DT), the multi-structural approximation with torsional anharmonicity (MS-T), and Fourier grid Hamiltonian (FGH). Our results reveal distinct structure-dependent behaviors: monomers exhibit near-free methyl rotations where the HA overestimates entropy by 20-30 J K mol, while dimers show more hindered rotations adequately described by the HA around room temperature.
View Article and Find Full Text PDFJ Electrocardiol
August 2025
Computational Physics Laboratory, Tampere University, P.O. Box 600, FI-33014 Tampere, Finland. Electronic address:
The QT interval is a key indicator in assessing arrhythmia risk, evaluating drug safety, and supporting clinical diagnosis in cardiology. The QT interval is significantly influenced by heart rate so it must be accurately corrected to ensure reliable clinical interpretation. Conventional correction formulas, such as Bazett's formula, are widely utilized but often criticized for inaccuracies, either under- or overcorrecting QT intervals in different physiological conditions.
View Article and Find Full Text PDFPublic Health Rep
September 2025
Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.
View Article and Find Full Text PDFNat Protoc
September 2025
Department of Physics, Technical University of Denmark, Kongens Lyngby, Denmark.
Scanning probe microscopy (SPM) is a powerful technique for mapping nanoscale surface properties through tip-sample interactions. Thermal scanning-probe lithography (tSPL) is an advanced SPM variant that uses a silicon tip on a heated cantilever to sculpt and measure the topography of polymer films with nanometer precision. The surfaces produced by tSPL-smooth topographic landscapes-allow mathematically defined contours to be fabricated on the nanoscale, enabling sophisticated functionalities for photonic, electronic, chemical and biological technologies.
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