Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent attacks of abnormal involuntary movements that are triggered by sudden movement, intention to move, or acceleration. A 10-year-old boy presented with paroxysmal, involuntary twisting movements of the left upper and lower limbs, precipitated by sudden body movements, lasting for 10-15 seconds and subsiding spontaneously. On examination, choreiform movements were observed, which were precipitated by sudden movements during some activities. The patient responded to carbamazepine with complete subsidence of the movements. The diagnosis of PKD was further confirmed by genetic testing. A high suspicion index helps in the prompt and early diagnosis of this rare entity.
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http://dx.doi.org/10.7759/cureus.42037 | DOI Listing |
J Biochem Mol Toxicol
February 2025
Department of Gynecologic Oncology, Zhejiang Cancer Hospital, Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang, China.
TWIST1 is aberrantly expressed in ovarian cancer (OC). MFAP2 is a downstream target of TWIST1, and we previously found MFAP2 facilitated OC development by activating FOXM1/β-catenin. We planned to investigate the mechanisms of TWIST1 in OC.
View Article and Find Full Text PDFJ Orthop Case Rep
January 2025
Department of Trauma and Orthopaedic Surgeon, Cork University Hospital, Ireland.
Introduction: In this article, we report a unique case of head-stem dissociation in a metal-on-metal total hip replacement which utilized an Exeter stem. Although metallosis and pseudotumor formation are well recognized complications of metal-on-metal hip replacements, head-stem dissociations are rare with few being reported in literature. To the best of our knowledge, this case report is the first to report this occurrence in an Exeter stem.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
January 2025
Department of Integrative Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Mitochondrial ribosomal protein S23 (MRPS23), encoded by a nuclear gene, is a well-known driver of proliferation in cancer. It participates in mitochondrial protein translation, and its expression association has been explored in many types of cancer. However, MRPS23 expression associations are rarely reported in breast cancer (BC).
View Article and Find Full Text PDFBioinspir Biomim
January 2025
Intelligent Robotics Institute, School of Mechatronical Engineering, Beijing Institute of Technology, Beijing 100081, People's Republic of China.
The wings of birds contain complex morphing mechanisms that enable them to perform remarkable aerial maneuvers. Wing morphing is often described using five wingbeat motion parameters: flapping, bending, folding, sweeping, and twisting. However, the specific impact of these motions on the aerodynamic performance of wings throughout the wingbeat cycle, and their potential to inform engineering applications, remains insufficiently explored.
View Article and Find Full Text PDFSci Rep
January 2025
Human Movement Biomechanics Research Group, Department of Movement Sciences, KU Leuven, Leuven, Belgium.
The treatment of Achilles tendinopathy is challenging, as 40% of patients do not respond to existing rehabilitation protocols. These protocols neglect individual Achilles tendon (AT) characteristics, which are crucial for healing of the tendon tissue. Although prior studies suggest an optimal strain for AT regeneration (6% tendon strains), it is unclear if current protocols meet this condition.
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