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| http://dx.doi.org/10.1136/jmg.4.1.12 | DOI Listing |
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Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFAssociations between health, productive performance and oral fluid biomarkers in commercial pig farms.
Porcine Health Manag
December 2024
Pig Development Department, Animal and Grassland Research and Innovation Centre, Teagasc Moorepark, P61C996, Fermoy, Co. Cork, Ireland.
Background: Oral fluid contains analytes that may be reflective of health and welfare in pig herds. Additionally, oral fluid collection is a more convenient and cost-effective option when compared to blood sampling, increasing the potential of oral fluid as a non-invasive alternative tool. While a growing number of biomarkers can be measured in porcine oral fluid, the use of these analytes to compare commercial herds in veterinary practice is still limited.
View Article and Find Full Text PDFIdentification of progressive pulmonary fibrosis: consensus findings from a modified Delphi study.
Respir Res
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National Jewish Health, Denver, USA.
Background: We sought consensus among practising respiratory physicians on the prediction, identification and monitoring of progression in patients with fibrosing interstitial lung disease (ILD) using a modified Delphi process.
Methods: Following a literature review, statements on the prediction, identification and monitoring of progression of ILD were developed by a panel of physicians with specialist expertise. Practising respiratory physicians were sent a survey asking them to indicate their level of agreement with these statements on a binary scale or 7-point Likert scale (- 3 to 3), or to select answers from a list.
Association between serum total indoxyl sulfate, intraperitoneal inflammation, and peritoneal dialysis technique failure: a 3-year prospective cohort study.
BMC Nephrol
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Head Doctor of the Dialysis Medical Center LLC, "Nephrocenter", Dovzhenka 3, Kyiv, 03057, Ukraine.
Background: The impact of protein-bound uremic toxins, specifically indoxyl sulfate (IS) on peritoneal dialysis (PD) complications remains controversial. This study aimed to explore the link between serum total IS (tIS) levels, proinflammatory cytokines in serum and peritoneal dialysis effluent (PDE), and PD technique survival.
Methods: In this prospective cohort study, 84 patients were followed up for three years and analyzed.
Objective: The objective of this study was to identify serum complement factor-based biomarkers indicative of clinical efficacy in patients with first-episode schizophrenia (SCZ) following treatment with aripiprazole.
Methods: The retrospective study cohort comprised 40 patients diagnosed with first-episode SCZ (SCZ group) and 40 healthy individuals (control group). Quantitative analyses were conducted on five complement factors, namely complement component 1 (C1), C2, C3, C4, and the 50% hemolytic complement (CH50).
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