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Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Lancet Respir Med
December 2024
Division of Infection, Immunity and Respiratory Medicine, University of Manchester, Manchester, UK. Electronic address:
Background: The goal of cystic fibrosis transmembrane conductance regulator (CFTR) modulators is to reach normal CFTR function in people with cystic fibrosis. Vanzacaftor-tezacaftor-deutivacaftor restored CFTR function in vitro and in phase 2 trials in participants aged 18 years and older resulting in improvements in CFTR function, as measured by sweat chloride concentrations and lung function as measured by spirometry. We aimed to evaluate the efficacy and safety of vanzacaftor-tezacaftor-deutivacaftor compared with standard of care elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older.
View Article and Find Full Text PDFBackground: Diarrhoeal diseases claim more than 1 million lives annually and are a leading cause of death in children younger than 5 years. Comprehensive global estimates of the diarrhoeal disease burden for specific age groups of children younger than 5 years are scarce, and the burden in children older than 5 years and in adults is also understudied. We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to assess the burden of, and trends in, diarrhoeal diseases overall and attributable to 13 pathogens, as well as the contributions of associated risk factors, in children and adults in 204 countries and territories from 1990 to 2021.
View Article and Find Full Text PDFNon-coding RNA Networks in Infection.
Methods Mol Biol
December 2024
Institute for Lung Research, Philipps University, Marburg, Germany.
In the face of global health challenges posed by infectious diseases and the emergence of drug-resistant pathogens, the exploration of cellular non-coding RNA (ncRNA) networks has unveiled new dimensions in infection research. Particularly microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) have emerged as instrumental players in ensuring a balance between protection against hyper-inflammatory conditions and the effective elimination of pathogens. Specifically, ncRNAs, such as the miRNA miR-155 or the lncRNAs MaIL1 (macrophage interferon-regulatory lncRNA 1), and LUCAT1 (lung cancer-associated transcript 1) have been recurrently linked to infectious and inflammatory diseases.
View Article and Find Full Text PDFPersonality associations with online vs. offline social capital and well-being variables.
BMC Psychol
December 2024
Department of Molecular Psychology, Institute of Psychology and Education, Ulm University, Helmholtzstr. 8/1, 89081, Ulm, Germany.
Social capital is an important construct in diverse scientific disciplines for understanding health promotion, entrepreneurship, and economic growth. In an increasingly digitalized world, social capital can be established and used in both online and offline contexts. Previous research suggests that personality might be relevant to an understanding of individual differences in social capital.
View Article and Find Full Text PDFGenetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
medRxiv
December 2024
Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
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