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Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience.
View Article and Find Full Text PDFTele-rehabilitation for children with physical disabilities: qualitative exploration of challenges in Iran.
BMC Pediatr
January 2025
MD, Pediatrician, Research Professor of Developmental Pediatrics, Pediatric Neurorehabilitation Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Background: Children with physical disabilities (Having this type of disability can be due to any of the reasons such as cerebral palsy, genetic, developmental, neurodevelopment and any other reasons that cause physical disability in the child) need rehabilitation services. Tele-rehabilitation is a practical approach to provide rehabilitation services for children with rapid and continuous access. This approach has been used more recently and overcomes the limitations of conventional rehabilitation, which involves wasting time, traveling distance, and cost.
View Article and Find Full Text PDFVariability in Notification of Positive Newborn Screening Results for Sickle Cell Trait Across the United States.
Adv Hematol
December 2024
Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.
View Article and Find Full Text PDFNon-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.
World J Pediatr
December 2024
Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Purpose: Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.
Methods: A comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents.
Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.
BMC Ophthalmol
December 2024
Department of Ophthalmology, Daegu catholic university school of medicine, Daegu, Korea.
Background: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS.
Case Presentation: A 6-year-old female patient visited our clinic complaining of low vision.
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