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A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants.
BMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
View Article and Find Full Text PDFWhite matter functional and structural alterations of spinocerebellar ataxia type 3: A longitudinal MRI study.
Neuroscience
December 2024
Department of Radiology, Xiangya Hospital of Central South University, Changsha, 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, 410008, China; National Engineering Research Center of Personalized Diagnostic and Therapeutic Technology, Xiangya Hospital of Central South University, Changsha, 410008, China; Hunan Engineering Research Center for Intelligent Medical Imaging, Changsha, 410078, Hunan, China; FuRong Laboratory, Changsha, 410078, Hunan, China. Electronic address:
Widespread white matter (WM) microstructural abnormalities have been reported in patients with spinocerebellar ataxia type 3 (SCA3) using diffusion tensor imaging (DTI), whereas the ability of DTI to detect WM degeneration over short-term period remains insufficiently explored. Additionally, WM dysfunction remains entirely unknown in this disease. This study aims to investigate WM structural and functional alterations in SCA3, and provide promising progression biomarkers for short-term clinical trials.
View Article and Find Full Text PDFCT Angiography of the Upper Extremities: Review of Acute Arterial Entities.
Radiographics
January 2025
From the Mallinckrodt Institute of Radiology, Washington University in St. Louis School of Medicine, 510 S Kingshighway Blvd, St. Louis, MO 63110.
Historically, evaluation of the upper extremity vasculature was performed using digital subtraction angiography. With the advancement of cross-sectional imaging and submillimeter isotropic data acquisition, CT angiography (CTA) has become an excellent noninvasive diagnostic tool for evaluation of the vasculature of the upper extremities. CTA allows quick evaluation of vessel patency and irregularity and achievement of the anatomic detail needed in preoperative planning.
View Article and Find Full Text PDFCervical spine infection arising from chronic paronychia: A case report and review of literature.
World J Orthop
December 2024
Department of Orthopedics and Spine Surgery, Guangxi University of Traditional Chinese Medicine Affiliated International Zhuang Hospital, Nanning 530201, Guangxi Zhuang Autonomous Region, China.
Background: Cervical spine pyogenic infection (CSPI) is a rare and challenging form of spinal infection that is typically caused by pyogenic bacteria and primarily affects the cervical vertebral bodies and surrounding tissues. Given its nonspecific symptoms, such as fever and neck pain, early diagnosis is crucial to prevent severe complications, including spinal cord injury. We report a previously unreported case of acute CSPI arising from chronic paronychia, exploring its diagnostic and therapeutic challenges through a review of the current literature.
View Article and Find Full Text PDFArticle Synopsis
- Meniscal extrusion (ME) is a significant predictor of knee joint degeneration, but existing classifications primarily use numerical assessments without considering the underlying causes of ME.
- Evidence suggests that ME can arise from various conditions, including acute tears, chronic degeneration, and even joint loading or anatomical issues that are not necessarily indicative of pathology.
- A new qualitative classification is proposed to categorize ME into paraphysiological, pathological, and degenerative types, with an emphasis on adapting clinical management based on these distinct categories.
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