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Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.
Transl Pediatr
December 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.
View Article and Find Full Text PDFMultifocal osteochondromatous proliferation and paraneoplastic hematologic dyscrasia in the context of latent Epstein-Barr virus reactivation: a case of oncologic and infectious pathophysiology.
Skeletal Radiol
January 2025
College of Medicine/Radiology Department, October 6, University, 217G Pyramid Gardens, Cairo, Egypt.
This case report describes a 15-year-old male with multifocal osteochondromatous proliferation and paraneoplastic hematologic dyscrasia, linked to latent Epstein-Barr virus reactivation. Radiographic and advanced imaging revealed widespread skeletal lesions consistent with osteochondromatosis. Hematologic evaluation indicated pancytopenia with dysplastic megakaryocytes and marrow infiltration.
View Article and Find Full Text PDFSex-specific response of intramuscular fat to diet-induced obesity in rats.
Sci Rep
January 2025
Human Performance Lab, University of Calgary, Calgary, AB, Canada.
Metabolic abnormalities associated with excess adiposity in obesity contribute to many noncommunicable diseases, including sarcopenic obesity. Sarcopenic obesity is the loss of muscle mass coupled with excess fat mass and fatty infiltrations in muscle tissue called myosteatosis. A diet-induced obesity model was developed to study fat infiltration in muscle tissue.
View Article and Find Full Text PDFBasic research for ultrasound-guided injection into skeletal muscle lesions in an experimental animal model.
Bone Joint Res
January 2025
Department of Medicine for Sports and Performing Arts, Osaka University Graduate School of Medicine, Suita, Japan.
Aims: Ultrasound-guided injection techniques are expected to enhance therapeutic efficacy for skeletal muscle injuries and disorders, but basic knowledge is lacking. The purpose of this study was to examine the diagnostic accuracy of ultrasound for abnormal skeletal muscle lesions, and to examine the distribution patterns of solution and cells injected into abnormal muscle lesions under ultrasound guidance.
Methods: A cardiotoxin (CTX)-induced muscle injury model was used.
Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease.
Acta Neuropathol Commun
January 2025
Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4 autoantibodies as a biomarker of immune-mediated RMD (iRMD), though the underlying disease-mechanisms remain poorly understood.
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