Double or nothing: Ancient duplications in the amylase locus drove human adaptation.

Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.

Bosniak Classification of Cystic Renal Masses Version 2019: Proportion of Malignancy by Class and Subclass-Systematic Review and Meta-Analysis.

Bosniak classification version 2019 (v2019) was a major revision to version 2005 (v2005) that defined cystic renal mass subclasses based on wall or septa features. To determine the proportion of malignancy within cystic renal masses stratified by Bosniak classification v2019 class and feature-based subclass. MEDLINE and EMBASE databases were searched on July 24, 2023 for studies published in 2019 or later that reported cystic renal masses that underwent renal-mass CT or MRI, were assessed using Bosniak v2019, and had a reference standard (histopathology indicating benignity or malignancy or ≥5-year imaging follow-up indicating benignity).

Multiple Sclerosis Fatigue Self-Management: Strategies and Influencing Factors 5 Years After a Multimodal Intervention.

Background: Fatigue: Take Control (FTC) is a multimodal self-management program. Results of a previous clinical trial showed its effectiveness at improving fatigue related to multiple sclerosis (MS). The objectives of this study were to use the very long-term data from the FTC study to understand fatigue management strategies used 5 years after enrollment, identify facilitators and barriers to utilizing strategies, and explore the potential relationships between the strategy used and fatigue outcomes.

Cost-effectiveness of radiofrequency echographic multi-spectrometry for the diagnosis of osteoporosis in the United States.

Radiofrequency echographic multi-spectrometry (REMS) is an innovative, non-ionizing diagnostic technique that has shown high accuracy and precision, making it a promising alternative to DXA for osteoporosis diagnosis in clinical settings. With economic considerations playing an increasingly crucial role in healthcare decisions, this study aims to evaluate the cost-effectiveness and economic impact of improved osteoporosis diagnosis using REMS followed by treatment in the United States. A microsimulation-based Markov model was constructed to estimate the cost per quality-adjusted life year (QALY) gained (in US$2022) for REMS followed by treatment vs no diagnosis and treatment in US women aged 50 yr and older with osteoporosis.

A flexible and scalable synthesis of 4'-thionucleosides.

4'-Thionucleosides (thNAs) are synthetic nucleoside analogues that have attracted attention as leads for drug discovery in oncology and virology. Here we report a thNA synthesis that relies on a scalable α-fluorination and aldol reaction of α-heteroaryl acetaldehydes followed by a streamlined process involving carbonyl reduction, mesylate formation and a double displacement reaction using NaSH. We demonstrate the multigram preparation of 4'-thio-5-methyluridine and highlight the production of purine and pyrimidine thNAs as well as C2'-modified thNAs.