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| http://dx.doi.org/10.5698/1535-7511-15.6.347 | DOI Listing |
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Objective: To summarize antiretroviral therapy (ART) use in the setting of end-stage kidney disease (ESKD).
Design: Cross-sectional analysis.
Methods: Descriptive analysis of ART regimens and dose of nucleoside/nucleotide reverse-transcriptase inhibitors (NRTI) in people with HIV and ESKD (dialysis, kidney transplantation, or estimated glomerular filtration rate (eGFR) <15 mL/min/1.
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance.
Hum Genet
January 2025
TCS Research, Tata Consultancy Services, Hyderabad, India.
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here we report an improved method for predicting the VUS of Arylsulfatase A (ARSA) gene as part of the Critical Assessment of Genome Interpretation challenge (CAGI6). Our method uses a transfer learning approach that leverages a pre-trained protein language model to predict the impact of mutations on the activity of the ARSA enzyme, whose deficiency is known to cause a rare genetic disorder, metachromatic leukodystrophy.
View Article and Find Full Text PDFMucus plays an integral role for the barrier function of many epithelial tissues. In the human airways, mucus is constantly secreted to capture inhaled microbes and pollutants and cleared away through concerted ciliary motion. Many important respiratory diseases exhibit altered mucus flowability and impaired clearance, contributing to respiratory distress and increased risk of infections.
View Article and Find Full Text PDFA Qualitative Exploration of Emotional Experiences in Patients with Thin Endometrium Undergoing Repeated Cancellations of Frozen-Thawed Embryo Transfer Cycles.
Int J Womens Health
January 2025
Reproductive Medicine Center, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou City, Zhejiang Province, People's Republic of China.
Objective: The aim of this study was to investigate the emotional experience of patients with thin endometrium (TE) who have repeatedly cancelled their cycles due to unsuitability for embryo implantation during the endometrial preparation phase of freeze-thaw embryo transfer (FET). The overall aim is to improve management strategies and quality of life for these patients.
Methods: A descriptive phenomenological methodology was utilized to conduct in-depth, semi-structured interviews with ten patients diagnosed with TE who had experienced repeated FET cancellations between January and June 2024.
Impact of sleep deprivation on dynamic functional connectivity states.
Handb Clin Neurol
January 2025
Faculty of Psychology, Vita-Salute San Raffaele University, Milan, Italy; Department of Neurology, Sleep Disorders Center, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Sleep deprivation (SD) is an experimental procedure to study the effects of sleep loss on the human brain. Neuroimaging techniques, such as functional magnetic resonance imaging (fMRI) and electroencephalography (EEG), have been pivotal in studying these effects. The present chapter aims to retrace the state of the art regarding the literature that examines the SD effects on the brain through functional connectivity (FC) evaluated in fMRI and EEG settings, separately.
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