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| http://dx.doi.org/10.1016/j.jdcr.2023.04.006 | DOI Listing |
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Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
HGG Adv
January 2025
Department of Biology, Brigham Young University, Provo, UT, 84061, USA; Simmons Center for Cancer Research, Brigham Young University, Provo, UT 84602, USA. Electronic address:
Using rare cancer predisposition alleles derived from The Cancer Genome Atlas (TCGA) and high cancer prevalence (14% of participants) in All of Us (version 6), we assessed the impact of these rare alleles on cancer occurrence in six broad groups of genetic similarity provided by All of Us: African/African American (AFR), Admixed American/Latino (AMR), East Asian (EAS), European (EUR), Middle Eastern (MID), or South Asian (SAS). We observed that germline susceptibility to cancer consistently replicates in EUR-like participants but less so in other participants. We found that All of Us participants from the EUR (p = 1.
View Article and Find Full Text PDFEnhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Orphanet J Rare Dis
January 2025
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.
Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
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Comprehensive analysis of targetable mutations and tumor microenvironment in urachal cancer.
NPJ Precis Oncol
January 2025
University of California, Irvine, Orange, CA, 92868, USA.
Urachal cancer, a rare malignancy, generally presents in the clinical setting with advanced stages of disease. Systemic treatment with chemotherapy is generally utilized in this setting. However, there remains a paucity of data on the effectiveness of immune checkpoint inhibitors or targeted therapies for urachal cancer.
View Article and Find Full Text PDFMitochondrial HMG-CoA synthase deficiency.
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Clinical Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium. Electronic address:
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) deficiency is a rare, potentially life-threatening autosomal recessive disorder resulting from mutations in the HMGCS2 gene, leading to impaired ketogenesis. We systematically reviewed the clinical presentations, biochemical and genetic abnormalities in 93 reported cases and 2 new patients diagnosed based on biochemical findings. Reported onset ages ranged from 3 months to 6 years, mostly before the age of 3.
View Article and Find Full Text PDFA new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.
Thromb Res
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Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:
Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.
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