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Uncommon Extradural Spinal Fibrolipoma in a Child: A Case Report.
Cureus
January 2025
Neurosurgery, University of Kinshasa, Kinshasa, COD.
Pediatric spinal tumors include a variety of developmental lesions and uncommon neoplasms that differ significantly from those seen in adults. These conditions are underreported in the sub-Saharan medical literature. We present the case of a 10-year-old girl brought by her family to the University Teaching Hospital of Kinshasa in the Democratic Republic of Congo with progressive lower limb functional impairment.
View Article and Find Full Text PDFNon-linear interactions of lower limb clinical measures associated with asymptomatic Achilles tendon pathology in ballet dancers.
J Athl Train
January 2025
Federal University of São Carlos, São Paulo, Brazil. Department of Physiotherapy.
Context: Tendon abnormalities on imaging are commonly observed in individuals with Achilles tendinopathy. Those abnormalities can also be present in asymptomatic individuals, which is an important risk factor for developing tendon symptoms. Ballet dancers are particularly vulnerable due to the high loads placed on their Achilles tendons.
View Article and Find Full Text PDFIdentification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
Ital J Pediatr
January 2025
Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
Background: Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.
View Article and Find Full Text PDFA novel frameshift variant in the gene is associated with recessive oculodentodigital dysplasia.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Hospital das Clínicas - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
Background: Oculodentodigital dysplasia (ODDD) is a rare syndrome that causes a constellation of facial, ophthalmic, dental, and limb abnormalities. Variants in the gap junction alpha-1 () gene have been described in patients with ODDD. Hereby we present the ocular manifestations in a patient with recessive ODDD due to a novel homozygous frameshift variant in .
View Article and Find Full Text PDFAn iliac arteriovenous fistula associated with leg swelling 2 years after the removal of a hemodialysis catheter: A case report.
Medicine (Baltimore)
January 2025
The Third Hospital of Mianyang, Sichuan Mental Health Center, Mianyang, Sichuan, China.
Rationale: Temporary central venous catheters are commonly used for patients who require emergency hemodialysis. In rare instances, this procedure can result in a very serious complication known as arteriovenous fistula (AVF). Although some cases of femoral arteriovenous fistula have been reported previously in the literature; however, the incidence of iliac AVF precipitated by a hemodialysis catheter is exceedingly uncommon.
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