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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFSafe Implementation of Treatments in Stroke: a study on intravenous thrombolysis in patients over 80 years of age with acute ischaemic stroke.
BMJ Open
January 2025
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Objectives: To investigate the safety and efficacy outcomes of intravenous thrombolysis (IVT) in patients aged >80 years with acute ischaemic stroke (AIS) after IVT was approved in this patient population in several European and non-European countries during 2018-2019.
Design: This is an observational registry study using prospectively collected data from the Safe Implementation of Treatment in Stroke (SITS) registry. Comparisons will be performed between patients treated post-approval (July 2018 to December 2021) period with those treated pre-approval (June 2015 to June 2018) period using propensity score matching (PSM).
Comparison of the safety and efficacy of dual antiplatelet therapy versus tenecteplase in patients with minor nondisabling acute ischemic stroke.
Sci Rep
January 2025
Center for Rehabilitation Medicine, Department of Neurology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, Zhejiang, China.
To evaluate the safety and efficacy of dual antiplatelet therapy (DAPT) versus tenecteplase in minor non-disabling acute ischemic stroke. This retrospective observational study utilized data from our stroke database. All consecutive patients with minor non-disabling acute ischemic stroke treated with either DAPT or tenecteplase between January 2020 and June 2023 were included in the analysis.
View Article and Find Full Text PDFMolecular and phylogenetic analyses of the first complete genome sequence of Duck hepatitis A virus genotype 2 from India.
Gene
January 2025
National Institute of Animal Biotechnology, Hyderabad, Telangana 500032, India; Regional Center for Biotechnology (RCB), Faridabad, Haryana, India. Electronic address:
Duck viral hepatitis (DVH) caused by duck hepatitis A virus (DHAV) is a highly contagious and economically important disease of ducklings worldwide. In many parts of the globe, disease outbreaks are reported in spite of vaccinations, probably due to antigenic diversity among DHAV genotypes. We previously reported the first isolation of DHAV-2 (Genotype -2) from ducklings in Tamil Nadu, India.
View Article and Find Full Text PDFSuperabsorbent wound dressings for the management of highly exuding wounds: a literature review.
J Wound Care
January 2025
Coloplast A/S, Holtedam 1, Humlebæk, Denmark.
Exudate management is essential for creating a moist wound environment that promotes optimal healing, especially in highly exuding wounds, where choosing an appropriate wound dressing to handle high volumes of exudate is a key part of the wound management strategy. Superabsorbent wound dressings (SWDs) have been designed to absorb and retain large amounts of exudate. Thus, they are advocated for management of wounds with moderate-to-high levels of exudate to reduce the risk of leakage and damage to the periwound skin.
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