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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Am J Med Genet A
December 2024
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.
View Article and Find Full Text PDFAnomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.
J Neurosurg Pediatr
November 2024
3Neurosurgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Objective: The exact association between the frequently present anomalous intracranial venous vasculature, emissary collaterals, ventriculomegaly, and increased intracranial pressure (ICP) in children with Apert and Crouzon syndromes remains an enigma. This study aimed to evaluate the association between the aberrant venous system and ventricle size and increased ICP, and to assess the development of the venous structures over time.
Methods: This retrospective cohort study included all patients with Apert or Crouzon syndrome with available CT venography (CTV) scans of the brain.
Revision Surgery Following Primary Reconstruction for Hand Syndactyly.
J Hand Surg Am
December 2024
Division of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address:
Article Synopsis
- The study investigates the rate and risk factors for reoperation after syndactyly reconstruction in children, focusing on complications such as web creep and scar contracture.
- Out of 514 web spaces analyzed from 231 children over a mean follow-up of 6 years, about 12.8% underwent revision surgery, with the first web space (thumb-index) being the most commonly reoperated.
- Key risk factors for revision included complete syndactyly, prior complications, and involvement of the first web space, while age at primary reconstruction did not significantly affect revision risk.
[Long-Term Outcome of Digital Defect Reconstruction using Cross-Finger Flaps].
Handchir Mikrochir Plast Chir
December 2024
Plastische- und Handchirurgische Klinik, Universitätsklinikum Erlangen, Erlangen, Germany.
Article Synopsis
- Cross-finger flaps are a valuable technique in finger reconstruction, particularly for repairing palmar digital and fingertip defects, although long-term results are understudied.
- A study involving 35 patients showed no significant difference in range of motion (ROM) between the reconstructed and donor fingers compared to the uninjured hand, but there was a noticeable difference in sensory function.
- Patients reported high satisfaction levels for both functionality (average score of 8.1/10) and aesthetics (average score of 7.7/10), with some experiencing persistent pain during stress on the reconstructed finger but no pain at rest.
Graftless Syndactyly Release.
Tech Hand Up Extrem Surg
June 2024
Department of Plastic and Reconstructive Surgery, Royal Hospital for Children and Young People, Edinburgh, Scotland, UK.
Syndactyly release aims to address skin deficits by resurfacing web spaces and sides of digits to allow independent digital motion while minimizing the risk of web creep and scar contractures. Conventional methods include the use of a dorsal and interdigitating flaps with full-thickness skin grafts. More recently, there have been several descriptions of "graftless" syndactyly release without skin grafts, thus avoiding a further (usually distant) donor site.
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