HLA-A*11:01:46 has one synonymous nucleotide change from HLA-A*11:01:01:01 at nucleotide 807 (codon 245 Alanine).
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http://dx.doi.org/10.1111/tan.13690 | DOI Listing |
Pancreatology
January 2025
Center for Gastroenterology, Department of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary; Hungarian Centre of Excellence for Molecular Medicine - University of Szeged, Translational Pancreatology Research Group, Szeged, Hungary. Electronic address:
Background/objectives: Loss-of-function chymotrypsin C (CTRC) variants increase the risk for chronic pancreatitis (CP) by reducing protective pancreatic CTRC activity. Variants in the 5' upstream region that includes the promoter might affect CTRC expression but have not been investigated to date. The aim of the present study was to address this knowledge gap.
View Article and Find Full Text PDFArab J Gastroenterol
January 2025
Endemic Medicine Department, Faculty of Medicine, Helwan University, Cairo, Egypt; Liver Disease Research Center, College of Medicine, King Saud University, Riyadh 11411, Saudi Arabia. Electronic address:
Personalized medicine is an emerging field that provides novel approaches to disease's early diagnosis, prevention, treatment, and prognosis based on the patient's criteria in gene expression, environmental factors, lifestyle, and diet. To date, hepatocellular carcinoma (HCC) is a significant global health burden, with an increasing incidence and significant death rates, despite advancements in surveillance, diagnosis, and therapeutic approaches. The majority of HCC lesions develop in patients with liver cirrhosis, carrying the risks of mortality associated with both the tumor burden and the cirrhosis.
View Article and Find Full Text PDFHipertens Riesgo Vasc
January 2025
Hospital Pharmacist Manager, Pharmaceutical Department, Asl Napoli 3 Sud., Italy. Electronic address:
Statins are crucial for both the prevention and management of atherosclerotic cardiovascular disease (ASCVD). However, even with optimized statin therapy, a significant residual risk of ASCVD remains, highlighting the need for innovative approaches to lipid-lowering therapies (LLT) that more effectively target low-density lipoprotein cholesterol (LDL-C) and other atherogenic lipoproteins. Recently, novel pharmacologic agents have been introduced for the management of dyslipidemia.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
December 2024
The application of standardized criteria to evaluate treatment efficacy is crucial for guiding therapeutic decisions, assessing prognosis, and interpreting outcomes in treating multiple myeloma (MM). The unique characteristics of MM make its response assessment more complex compared with other malignancies. It primarily depends on serum and urine M protein levels, combined with the number of plasma cells in the bone marrow and comprehensive imaging findings.
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