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Now showing 1 - 10 of 3346
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    Global prevalence of genetic carriers for ARMC5- and KDM1A-associated primary bilateral macronodular adrenal hyperplasia: insights from a large multiethnic genomic database
    (2026-01-01) Charoenngam N.; Wannachalee T.; Charoenngam N.; Mahidol University
    Purpose: To estimate the global prevalence of genetic carriers of primary bilateral macronodular adrenal hyperplasia (PBMAH)-associated variants in ARMC5 and KDM1A using a large genomic database. Methods: We analyzed sequencing data from 807,162 unrelated individuals in gnomAD v4.1. Two prespecified variant-selection strategies were applied. Strict criteria included ARMC5 and KDM1A variants classified as pathogenic/likely pathogenic (P/LP) in ClinVar/LOVD and germline P/LP variants reported in the literature. Liberal criteria included all strict variants plus rare predicted deleterious variants (nonsense, frameshift, loss of start codon and splice-disrupting variants predicted to be deleterious by in silico analysis) and PBMAH-reported somatic ARMC5 variants from the literature as candidate germline susceptibility alleles. Carrier prevalence was estimated by aggregating allele frequencies of qualifying variants overall and by ancestry. Results: For ARMC5, estimated carrier prevalence was 37.5/100,000 under strict criteria and 64.1/100,000 under liberal criteria. Prevalence varied by ancestry, highest in East Asian individuals (strict: 111.4/100,000; liberal: 173.7/100,000) and lowest in Middle Eastern (strict: 0; liberal: 33.0/100,000) and Ashkenazi Jewish groups (strict: 6.8; liberal: 27.0/100,000). For KDM1A, only three variants met strict criteria; liberal criteria yielded an estimated carrier prevalence of 33.8/100,000, highest in Middle Eastern (66.0/100,000) and lowest in Finnish (6.2/100,000). Several variants were enriched in specific ancestries (e.g., ARMC5 p.Arg454Trp in East Asians; ARMC5 p.Arg879Trp and KDM1A p.Arg196AsnfsTer6 in non-Finnish Europeans). Conclusion: Population-scale data suggest PBMAH genetic susceptibility due to ARMC5 and KDM1A variants may be more common than implied by clinical series and differs across ancestries, underscoring the need for improved variant curation and phenotype-linked studies.
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    Early subcutaneous basal insulin with intravenous insulin infusion for diabetic ketoacidosis management: A systematic review and meta-analysis of randomised controlled trials
    (2025-01-01) Thammakosol K.; Vongtangton P.; Numthavaj P.; Auttara-atthakorn A.; Sriphrapradang C.; Thammakosol K.; Mahidol University
    Aims: To evaluate the effectiveness and safety of early initiation of subcutaneous (SC) basal insulin in combination with intravenous insulin infusion (IVII), compared with IVII alone, for the management of diabetic ketoacidosis (DKA). Materials and Methods: A systematic search of PubMed, Embase, Scopus, and the Cochrane Library was conducted to identify randomised controlled trials (RCTs) comparing early initiation of long- or ultra-long-acting basal insulin plus IVII versus IVII alone in DKA management. Studies published up to 6 September 2025, were included. Meta-analysis was performed using mean difference (MD) for continuous outcomes and risk ratio for dichotomous outcomes, both with a 95% confidence interval (CI). The primary outcome was time to DKA resolution. Secondary outcomes included total intravenous insulin use, rebound hyperglycemia, hypoglycemia, hypokalemia, length of hospital stay (LOS), and mortality. A one-stage individual participant data meta-analysis was also conducted when individual-level data were available. Results: Eight RCTs including 468 participants (256 receiving early SC basal insulin plus IVII; 212 receiving IVII alone) were included. Baseline characteristics were comparable across studies. Early SC basal insulin significantly reduced time to DKA resolution (MD −4.02 h, 95%CI −5.52 to −2.52, p <0.001) and total intravenous insulin dose until DKA resolution (MD −19.2 units, 95%CI −28.99 to −9.26, p <0.001). No significant differences were observed between groups for rebound hyperglycemia, safety outcomes, LOS, or in-hospital mortality. Conclusions: Early SC basal insulin in combination with IVII significantly accelerates DKA resolution and reduces total IVII requirements, without increasing the risk of adverse events, including hypoglycemia or hypokalemia.
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    ALSFRS-R forecasting: A reliable clinical tool? A translational challenge
    (2026-01-01) Zhao D.; Zhao D.; Mahidol University
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    The Goiter of Nan: Historical iodine deficiency through Lanna mural art
    (2026-01-01) Sriphrapradang C.; Sriphrapradang C.; Mahidol University
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    Ustekinumab Dose Optimization in Ulcerative Colitis: Is More Always Better?
    (2025-01-01) Chaemsupaphan T.; Limsrivilai J.; Chaemsupaphan T.; Mahidol University
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    Expert comments
    (2005-07-01) S. Fucharoen; The Institute of Science and Technology for Research and Development, Mahidol University
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    Author's Response
    (2011-01-01) Nopadol Chaikum; Mahidol University
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    Use of newer insulins in developing countries problems and perspectives
    (1997-12-01) S. Tandhanand; Mahidol University