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Clinical and molecular characteristics of KPC-producing Klebsiella pneumoniae bloodstream infections: results of a multicentre study.
J Glob Antimicrob Resist
January 2025
Infectious Disease Clinic, Dept. Of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy; Infectious Disease, Azienda Sanitaria Pesaro-Urbino, Pesaro, Italy.
Objectives: KPC-producing Klebsiella pneumoniae (KPC-Kp) is a great cause of concern and it is often associated with bloodstream infections (BSIs) and a high mortality rate. We identified the risk factors of KPC-Kp BSIs observed in three Italian hospitals and studied the epidemiology of KPC-Kp strains.
Methods: We performed a retrospective analysis of KPC-Kp BSIs from 2014 to 2019 in three hospitals in Central Italy (Ancona, Pesaro-Fano, and Perugia).
A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.
Cancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
View Article and Find Full Text PDFA genomic variation map provides insights into potato evolution and key agronomic traits.
Mol Plant
January 2025
Inner Mongolia Potato Engineering and Technology Research Centre, Key Laboratory of Herbage and Endemic Crop Biology, Ministry of Education, School of Life Sciences, Inner Mongolia University, Hohhot 010021, China. Electronic address:
Hybrid potato breeding based on diploid inbred lines is transforming the way of genetic improvement of this staple food crop, which requires a deep understanding of potato domestication and differentiation. Here, we resequenced 314 diploid wild and landrace accessions to generate a variome map of 47,203,407 variants. Using the variome map, we discovered the reshaping of tuber transcriptome during potato domestication, characterized genome-wide differentiation between landrace groups Stenotomum and Phureja, and identified a jasmonic acid biosynthetic gene possibly affecting tuber dormancy period.
View Article and Find Full Text PDFGenetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Int J Mol Sci
January 2025
Endocrinology Research Center, Moscow 117292, Russia.
Analyzing the genetic architecture of hereditary forms of diabetes in different populations is a critical step toward optimizing diagnostic and preventive algorithms. This requires consideration of regional and population-specific characteristics, including the spectrum and frequency of pathogenic variants in targeted genes. As part of this study, we used a custom-designed NGS panel to screen for mutations in 28 genes associated with the pathogenesis of hereditary diabetes mellitus in 506 unrelated patients from Russia.
View Article and Find Full Text PDFThe causal relationship between steroid hormones and risk of stroke: evidence from a two-sample Mendelian randomization study.
Mol Brain
January 2025
Xuanwu Hospital, China-America Institute of Neurology, Capital Medical University, No. 45, Changchun Street, Xicheng District, Beijing, China.
It is unclear how steroid hormones contribute to stroke, and conducting randomized controlled trials to obtain related evidence is challenging. Therefore, Mendelian randomization (MR) technique was employed in this study to examine this association. Through genome-wide association meta-analysis, the genetic variants of steroid hormones, including testosterone/17β-estradiol (T/E2) ratio, aldosterone, androstenedione, progesterone, and hydroxyprogesterone, were acquired as instrumental variables.
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