Skeletal abnormalities of eight patients with Satoyoshi's syndrome, a rare condition of unknown etiology characterized by progressive muscle spasms, alopecia, and diarrhea, were studied radiographically. Various skeletal changes were observed including metaphyseal lesions, slipping of multiple epiphyses, cystic lesions, acroosteolysis and osteolysis, bone fragmentation at tendinous insertions, fatigue fractures, and early osteoarthrosis. This wide range of lesions is likely to be due to repeated injuries to the growth plates, epiphyses, and tendon attachments in the growing skeleton caused by recurrent vigorous muscle spasms.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00198390 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Image-guided Interventions for Core Muscle Injury and Other Disorders in the Pubic Symphysis.
Radiographics
February 2025
Department of Medical Imaging, The Ottawa Hospital, 501 Smyth Rd, Ottawa, ON, Canada K1H 8L6 (D.V.F., J.L.); Department of Radiology, Radiation Oncology and Medical Physics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada (D.V.F., J.L.); Ottawa Hospital Research Institute, Ottawa, Ontario, Canada (D.V.F., J.L.); and Department of Radiology, St. Paul's Hospital, University of British Columbia, Vancouver, British Columbia, Canada (T.M.).
Formerly termed or , core muscle injury (CMI) encompasses abnormality of structures within the so-called core, which is essentially the hip, abdomen, and pubis. Compared with data on image-guided procedures of other joints, information regarding procedures performed to address CMI and other disorders of the pubic symphysis is lacking. These procedures can be daunting given the joint's small size, surrounding critical neurovascular structures, and three-dimensional anatomy.
View Article and Find Full Text PDFReport of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFConstruction of a rodent neural network-skeletal muscle assembloid that simulate the postnatal development of spinal cord motor neuronal network.
Sci Rep
January 2025
Key Laboratory for Stem Cells and Tissue Engineering Ministry of Education, Guangdong Provincial Key Laboratory of Brain Function and Disease, Institute of Spinal Cord Injury, Department of Histology and Embryology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
Neuromuscular diseases usually manifest as abnormalities involving motor neurons, neuromuscular junctions, and skeletal muscle (SkM) in postnatal stage. Present in vitro models of neuromuscular interactions require a long time and lack neuroglia involvement. Our study aimed to construct rodent bioengineered spinal cord neural network-skeletal muscle (NN-SkM) assembloids to elucidate the interactions between spinal cord neural stem cells (SC-NSCs) and SkM cells and their biological effects on the development and maturation of postnatal spinal cord motor neural circuits.
View Article and Find Full Text PDFSporadic and Recurrent Exertional Rhabdomyolysis.
Vet Clin North Am Equine Pract
January 2025
Michigan State University, Large Animal Clinical Sciences, College of Veterinary Medicine, East Lansing, MI, USA. Electronic address:
Horses are particularly susceptible to developing exertional rhabdomyolysis (ER) characterized by muscle stiffness, pain, and reluctance to move. Diagnosis requires establishing abnormal increases in serum creatine kinase activity when horses exhibit clinical signs. The 2 main categories of ER include sporadic ER arising from extrinsic causes and chronic ER that arises from intrinsic continuous or episodic abnormalities in muscle function.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!