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| http://dx.doi.org/10.1038/gim.2016.216 | DOI Listing |
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Mapping Trajectories of Gait Recovery in Clinical Stroke Rehabilitation.
Neurorehabil Neural Repair
January 2025
Department of Human Movement Science, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences, Amsterdam, The Netherlands.
Background: How gait changes during the early stages of stoke rehabilitation, and which patient characteristics are associated with these changes is still largely unknown.
Objective: he first objective was to describe the changes in gait during stroke rehabilitation. Secondly, we determined how various patient characteristics were associated with the rate of change of gait over time.
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Human PBMC-based humanized mice exhibit myositis features and serve as a drug evaluation model.
Inflamm Regen
January 2025
Oncology & Immunology Unit, Research Division, Mitsubishi Tanabe Pharma Corporation, Kanagawa, 227-0033, Japan.
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders characterized by immune cell infiltration of muscle tissue accompanied by inflammation. Treatment of IIMs is challenging, with few effective therapeutic options due to the lack of appropriate models that successfully recapitulate the features of IIMs observed in humans. In the present study, we demonstrate that immunodeficient mice transplanted with human peripheral blood mononuclear cells (hPBMCs) exhibit the key pathologic features of myositis observed in humans and develop graft-versus-host disease.
View Article and Find Full Text PDFRegulatory roles of eugenol in paraquat-altered SNCA/LZTS3/MAPT in the cerebellum of Wistar rats.
Lab Anim Res
January 2025
Anatomy Department, Faculty of Basic Medical Sciences, Alex Ekwueme, Federal University, Ndufu-Alike, Ebonyi State, Nigeria.
Background: The Microtubules-associated protein tau (MAPT), alpha-synuclein (SNCA), and leucine zipper tumor suppressor 3 (LZTS3) genes are implicated in neurodegeneration and tumor suppression, respectively. This study investigated the regulatory roles of eugenol on paraquat-altered genes.
Results: Forty male Wistar rats divided into five groups of eight rats were used.
Risk factors of recurrent periprosthetic joint infection of the knee after two-stage reimplantation.
Knee Surg Relat Res
January 2025
Department of Orthopedics, Seoul National University College of Medicine, Seoul, South Korea.
Introduction: Prosthetic joint infection (PJI) is one of the most common and detrimental complications of total knee replacement arthroplasty (TKA). Despite extensive efforts, including two-stage reimplantation, to eradicate PJI, it still recurs in a substantial number of patients. However, the risk factors of recurrence after two-stage reimplantation of the knee have not been established.
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