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| http://dx.doi.org/10.1136/bmjdrc-2023-003899 | DOI Listing |
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A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.
Gastric Cancer
January 2025
Division of Pathology, Shizuoka Cancer Center, Shizuoka, Japan.
CTNNA1 codes α-1 catenin, a molecule that functions in intercellular adhesion in combination with E-cadherin (coded by CDH1). A germline pathogenic variant (GPV) of CTNNA1 increases the risk of hereditary diffuse gastric cancer (HDGC); however, this GPV has not been reported in Japan. A 35-year-old Japanese man with an advanced gastric cancer underwent comprehensive genome profiling (CGP), which led to the detection of a CTNNA1 GPV (p.
View Article and Find Full Text PDFAssociation Between Type 2 Diabetes Onset Age and Risk of Cardiovascular Disease and Mortality: Two Cohort Studies from United Kingdom and Hong Kong.
Diabetes Metab
January 2025
Department of Family Medicine and Primary Care, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong; Centre for Safe Medication Practice and Research, Department of Pharmacology and Pharmacy, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong; Advanced Data Analytics for Medical Science (ADAMS) Limited, Hong Kong S.A.R., China. Electronic address:
Objective: This study evaluated the association between age of onset of type 2 diabetes mellitus (T2DM) and risk of cardiovascular disease (CVD) and mortality.
Method: Two retrospective cohort studies were conducted using the electronic health record from United Kingdom (UK) and Hong Kong (HK) (2008-2013) on adults without CVD. 128,918 and 185,646 patients with newly diagnosed T2DM were assigned to the T2DM group, and control group included 5,052,770 and 3,159,396 patients without T2DM in UK and HK cohort, respectively.
Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival.
Front Cell Neurosci
January 2025
Department of Pathology, Case Western Reserve University, School of Medicine, Cleveland, OH, United States.
Creutzfeldt-Jakob disease (CJD) is a rare, fatal, rapidly progressive neurodegenerative disease resulting from an accumulation of misfolded prion proteins (PrP). CJD affects 1-2 new individuals per million each year, and the sporadic type accounts for 90% of those cases. Though the median age at onset and disease duration vary depending on the subtype of sporadic CJD (sCJD), the disease typically affects middle-aged to elderly individuals with a median survival of 4-6 months.
View Article and Find Full Text PDFGenetic variations and clinical significance in young-onset nasopharyngeal cancer: Analysis of EBV interaction with cellular receptor variants and viral glycoproteins.
Heliyon
January 2025
Faculty of Medicine, University of Surabaya, Surabaya, 60292, Indonesia.
Nasopharyngeal cancer (NPC), although rare in young individuals worldwide, is significantly influenced by the Epstein-Barr virus (EBV). Considering EBV's widespread prevalence, understanding its role in NPC's future occurrence, disease progression, clinical symptoms, metastatic tendencies, and prognosis is crucial. In this study, we extensively analyzed two young patients with NPC, who displayed distinct clinical features.
View Article and Find Full Text PDFAnalysis of the risk of death and its associated risk factors in Chinese patients with young-onset type 2 diabetes.
Front Endocrinol (Lausanne)
January 2025
Department of Endocrinology, Huai'an Hospital Affiliated to Xuzhou Medical University and Huai'an Second People's Hospital, Huai'an, Jiangsu, China.
Objectives: To examine the association between the age at onset of diabetes and the risk of all-cause mortality in a population of individuals diagnosed with type 2 diabetes mellitus (T2DM) and to identify risk factors associated with all-cause mortality in young-onset T2DM (YOD) patients in China.
Methods: This study utilized a cohort of 9759 patients who were diagnosed with T2DM and who were registered and enrolled in the National Basic Public Health Service Management Program in Qinghe District (now Qingjiangpu District) and Huai'an District, Huai'an City, Jiangsu Province, China. The patients were observed from November 2013 to July 2014, and all-cause mortality data were obtained by comprehensive matching with the Huai'an City Resident Mortality Database as of December 31, 2019.
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