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http://dx.doi.org/10.1016/j.seizure.2022.06.019 | DOI Listing |
Cureus
August 2025
Medicine, Academy of Silesia, Katowice, POL.
We present the case of a 45-year-old Caucasian woman diagnosed with synchronous bicentric breast cancer of differing molecular phenotypes in the same breast. The first tumor, an invasive ductal carcinoma (G1), was estrogen and progesterone receptor-positive and HER2-negative, with a low proliferative index (Ki67 10%). A second lesion, located in a different quadrant and appearing within weeks after biopsy, exhibited a triple-negative phenotype and a higher proliferative index (Ki67 30%).
View Article and Find Full Text PDFJAC Antimicrob Resist
October 2025
Department of Medicine, Weill Cornell Medicine, New York, NY, USA.
Background And Objectives: The β-lactam/β-lactamase inhibitor combinations ampicillin-sulbactam (SAM) and amoxicillin-clavulanate (AMC) are frequently used to treat Enterobacterales infections and are often assumed to be interchangeable, leading some clinical microbiology laboratories to report antimicrobial susceptibility testing (AST) results for only one of these agents. Given differences in β-lactamase inhibition between sulbactam and clavulanate, we hypothesized that the activities of SAM and AMC may differ.
Methods: To understand the prevalence of discordant SAM and AMC susceptibility results in Enterobacterales species, we analysed AST results obtained by broth microdilution (MicroScan WalkAway, Beckman Coulter) for Enterobacterales isolates recovered from clinical specimens between 2018 and 2022 at an academic medical centre in New York City.
Transfusion
September 2025
Department of Human Genetics, The University of Utah School of Medicine, Salt Lake City, Utah, USA.
Background: Although blood group variation was first described over a century ago, our understanding of the genetic variation affecting antigenic expression on the red blood cell surface in many populations is lacking. This deficit limits the ability to accurately type patients, especially as serological testing is not available for all described blood groups, and targeted genotyping panels may lack rare or population-specific variants.
Study Design And Methods: Here, we perform serological assays across 24 antigens and whole genome sequencing on 100 Omanis, a population underrepresented in genomic databases.
Adv Sci (Weinh)
September 2025
Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Key Laboratory of Mental Health of the Ministry of Education, Guangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired Intelligence, Guangdong-Hong Kong Joint Laboratory for Psychiatric Diso
Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable psychiatric disorders with complex genetic and environmental underpinnings. Allele-specific expression (ASE) has emerged as a critical mechanism linking noncoding genetic variants to disease risk through epigenetic and environmental modulation. Here, whole-genome and transcriptome analyses of monozygotic twin pairs discordant for BPD or SCZ are performed, identifying that noncoding genetic variants drive differential ASE patterns of long noncoding RNAs (lncRNAs) in affected individuals compared to their unaffected co-twins.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2025
Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Background: Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have been reported. The descriptions have often focused on the phenotype, emphasizing differences or similarities.
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