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Observational gait analysis.
Curr Opin Pediatr
February 2025
Royal Children's Hospital Melbourne, University of Melbourne, Murdoch Children's Research Centre, Parkville, Victoria, Australia.
Purpose Of Review: The review is aimed at practising paediatricians who want to improve their clinical skills in observational gait analysis. Many paediatric complaints relate to problems of walking or limb alignment, and only a small proportion of these are pathological. With a deeper understanding of normal gait and a framework to conduct an observational analysis, the clinician can feel more confident diagnosing and recognizing those walking patterns that need further investigation.
View Article and Find Full Text PDFSegregation of the Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.
Genes (Basel)
October 2024
Department of Pathology, College of Medicine, Qassim University, Buraidah 51452, Saudi Arabia.
Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain and collagen type VI alpha 1 chain ( genes, and 2q37, which harbors the collagen type VI alpha 3 chain () gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia.
View Article and Find Full Text PDFTreatment of rotational tibial malunion after minimal invasive plate osteosynthesis (MIPO): Corrective osteotomy with original plate retention (PR-Osteotomy).
Injury
September 2024
Hip Department (CAD) Gaetano Pini-CTO Orthopedic Institute, University of Milan, P.za Cardinal Ferrari 1, 20122, Milano, Italy.
Background And Purpose: Residual axial and rotational deformities in tibial shaft fracture, after minimally invasive osteosynthesis (MIO) treatment, are widely described in literature. Nevertheless, there is still a lack of evidence about the malunion treatment strategies and results. The aim of our study is to present an innovative technique for tibial shaft malunion: a derotational proximal tibial osteotomy without removing the original plate (Plate-Retaining-Osteotomy: PR-Osteotomy).
View Article and Find Full Text PDFPathological study of progressive supranuclear palsy the cases with mutations in Bassoon.
Neuropathology
October 2024
Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.
View Article and Find Full Text PDFAtypical Foot Swelling in Metastatic Endometrial Carcinoma: Role of FDG PET/CT.
Clin Nucl Med
January 2025
An 83-year-old woman with a history of endometrial carcinoma (EMC), treated with surgery and chemotherapy in August 2020, presented with a 1-year history of left foot swelling, tenderness, and heat. Despite multiple consultations, no diagnosis was made, and she developed painful swelling with a limping gait. A biopsy was done on July 14, 2023, confirmed metastatic EMC.
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