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Deficiency of adenosine deaminase 2 (DADA2) with recurrent ischemic stroke, fever and cutaneous changes: A case report.
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Department of Neurology, Peking Union Medical College Hospital, 100730, Beijing, China.
Individualized morphological covariation network aberrance associated with seizure relapse after antiseizure medication withdrawal.
Neurol Sci
January 2025
Epilepsy Center, Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
This study intents to detect graphical network features associated with seizure relapse following antiseizure medication (ASM) withdrawal. Twenty-four patients remaining seizure-free (SF-group) and 22 experiencing seizure relapse (SR-group) following ASM withdrawal as well as 46 matched healthy participants (Control) were included. Individualized morphological similarity network was constructed using T1-weighted images, and graphic metrics were compared between groups.
View Article and Find Full Text PDFThe value of non-punctate echogenic foci in the ultrasonic diagnosis of thyroid nodules.
Endocrine
January 2025
Department of General Surgery, Tianjin Medical University General Hospital, Tianjin, China.
Purpose: To evaluate the diagnostic value of different subtypes of non-punctate echogenic foci in thyroid malignancy.
Methods: Retrospective research of 342 thyroid nodules with calcification was performed. The echogenic foci were divided into punctate echogenic foci (type I) and non-punctate echogenic foci (type II), and type II were further divided into four subtypes: macrocalcification (type IIa), continuous peripheral calcification (type IIb), discontinuous peripheral calcification (type IIc) and isolated calcification (type IId).
New insights into the interplay between MALAT1 and miRNA-155 to unravel potential diagnostic and prognostic biomarkers of Behçet's disease.
Clin Rheumatol
January 2025
Biochemistry Department, Faculty of Pharmacy, Cairo University, Cairo, 11562, Egypt.
The current study was deployed to evaluate the role of metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and miR-155, along with the inflammatory markers, TNFα and IL-6, and the adhesion molecule, cluster of differentiation 106 (CD106), in Behçet's disease (BD) pathogenesis. The study also assessed MALAT1/miR-155 as promising diagnostic and prognostic biomarkers for BD. The current retrospective case-control study included 74 Egyptian BD patients and 50 age and sex-matched controls.
View Article and Find Full Text PDFMulticenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Mol Diagn Ther
January 2025
Istituto Europeo di Oncologia, IRCCS, Via Adamello 16, 20139, Milan, Italy.
Background: Predicting response to targeted cancer therapies increasingly relies on both simple and complex genetic biomarkers. Comprehensive genomic profiling using high-throughput assays must be evaluated for reproducibility and accuracy compared with existing methods.
Methods: This study is a multicenter evaluation of the Oncomine™ Comprehensive Assay Plus (OCA Plus) Pan-Cancer Research Panel for comprehensive genomic profiling of solid tumors.
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