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Intercomparison of in-well, depth profile and online soil gas measurements for estimating petroleum natural source zone depletion rates: Will in-well gas samples suffice?
J Hazard Mater
January 2025
BP Australia Pty Ltd, Melbourne, Victoria 3000, Australia.
Natural Source Zone Deletion (NSZD) is a viable long-term management option for sites impacted by petroleum hydrocarbon fuels. NSZD rate estimation methods for petroleum mass losses often use soil gas gradients of oxygen, carbon dioxide, methane or vapour concentrations through the vadose zone. Seeking greater efficiencies, we investigated if existing short-screened wells are reliable for representative sampling of soil gases in a vadose zone undergoing NSZD.
View Article and Find Full Text PDFCase Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.
Nat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFLoss of phosphatase and tensin homolog () increases Lysyl oxidase-like 2 () expression enhancing the growth of fallopian tube epithelial cells as three-dimensional spheroids.
Cancer Pathog Ther
January 2025
Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois, Chicago, IL 60607, USA.
Background: High-grade serous ovarian cancer (HGSOC) accounts for 70-80% of all ovarian cancer-related deaths. Multiple studies have suggested that the fallopian tube epithelium (FTE) serves as the cell of origin of HGSOC. Phosphatase and tensin homolog () is a tumor suppressor and its loss is sufficient to induce numerous tumorigenic changes in FTE, including increased migration, formation of multicellular tumor spheroids (MTSs), and ovarian colonization.
View Article and Find Full Text PDFChronic Lymphocytic Leukemia: 2025 Update on the Epidemiology, Pathogenesis, Diagnosis, and Therapy.
Am J Hematol
January 2025
Department I of Internal Medicine and Medical Faculty, University of Cologne, Köln, Germany.
Disease Overview: Chronic lymphocytic leukemia (CLL) is the most frequent type of leukemia. It typically occurs in older patients and has a highly variable clinical course. Leukemic transformation is initiated by specific genomic alterations that interfere with the regulation of proliferation and apoptosis in clonal B-cells.
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