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http://dx.doi.org/10.4103/singaporemedj.SMJ-2022-171 | DOI Listing |
Genet Med
December 2024
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN. Electronic address:
Purpose: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) with genetic data to understand which decisions may affect performance.
View Article and Find Full Text PDFAm J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFMed Sci Monit
December 2024
Department of Neurology, HangZhou Third People's Hospital, Hangzhou, Zhejiang, China.
BACKGROUND This study aimed to analyze the risk factors of central nervous system (CNS) infection caused by reactivation of varicella zoster virus (VZV) and provide reference for the prevention and early diagnosis of VZV-associated CNS infection. MATERIAL AND METHODS A prospective study was conducted on 1030 patients with acute herpes zoster (HZ) admitted to our hospital from January 2021 to June 2023. According to clinical manifestations and auxiliary examinations, they were divided into HZ group of 990 patients and VZV-associated CNS infection group of 40 patients.
View Article and Find Full Text PDFSci Rep
December 2024
Hepatobiliary and Pancreatic Medical Treatment Center, People's Hospital of Xinjiang Uygur, Autonomous Region, Tianchi road, Urumqi, 830011, China.
With the advancement of precise hepatobiliary surgery concepts, the diagnostic and therapeutic approaches for hepatic echinococcosis have undergone significant transformations. However, whether these changes have correspondingly improved patient outcomes remains unclear. A retrospective analysis of these changes will provide crucial guidance for the prevention and treatment of hepatic echinococcosis.
View Article and Find Full Text PDFJ Cardiovasc Transl Res
December 2024
Department of Clinical Laboratory, Henan Provincial People's Hospital, Zhengzhou, China.
This study explored the early diagnosis and prognostic value of copeptin in non-ST-segment elevation acute coronary syndrome (NSTE-ACS). 171 patients with chest pain or myocardial ischemia symptoms were enrolled. Patients with NSTE-ACS were further divided into the non-ST-elevation myocardial infarction (NSTEMI) and unstable angina (UA).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!