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http://dx.doi.org/10.1371/journal.ppat.1005240 | DOI Listing |
Neuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Electronics Engineering, College of Engineering, Chang Gung University, Taoyuan City, 330, Taiwan.
Reconfigurable modular robots can be used in application domains such as exploration, logistics, and outer space. The robots should be able to assemble and work as a single entity to perform a task that requires high throughput. Selecting an optimum assembly position with minimum distance traveled by robots in an obstacle surrounding the environment is challenging.
View Article and Find Full Text PDFCureus
November 2024
Obstetrics and Gynecology, Employees' State Insurance Corporation (ESIC) Medical College and Hospital, Faridabad, Faridabad, IND.
As space travel evolves from brief missions to longer expeditions, and with the rise of space tourism, there is increasing interest in understanding how space travel affects human reproductive physiology and the feasibility of procreation in space. Space travel presents various potential hazards to reproductive health such as exposure to ionizing radiation, exposure to changes in gravity, psychological stress, and disruptions to the endocrine and urogenital systems, as well as the circadian rhythm. This article explores how cosmic radiation and microgravity impact both female and male gametogenesis, embryogenesis, and reproductive physiology.
View Article and Find Full Text PDFERJ Open Res
November 2024
Erasmus MC, University Medical Center Rotterdam, Department of Radiology and Nuclear Medicine, Rotterdam, The Netherlands.
Aim: Bronchiectasis (BE) is a disease defined by irreversible dilatation of the airway. Computed tomography (CT) plays an important role in the detection and quantification of BE. The aim of this study was three-fold: 1) to assess bronchus-artery (BA) dimensions using fully automated software in a cohort of BE disease patients; 2) to compare BA dimensions with semi-quantitative BEST-CT (Bronchiectasis Scoring Technique for CT) scores for BE and bronchial wall thickening; and 3) to explore the structure-function relationship between BA-method lumen dimensions and spirometry outcomes.
View Article and Find Full Text PDFJ Clin Med
November 2024
Department of Medicine V, LMU University Hospital, LMU Munich, Comprehensive Pneumology Center, Member of the German Center for Lung Research (DZL), 80336 Munich, Germany.
Chronic obstructive pulmonary disease (COPD) is commonly associated with ageing, with the prevalence and severity increasing by age. Smoking-induced premature ageing is thought to contribute to COPD, particularly lung emphysema. This study aimed to explore the relationship between lung function impairment and skin texture, as a marker of biological or premature ageing, in COPD patients.
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