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| http://dx.doi.org/10.1016/j.jaci.2013.08.049 | DOI Listing |
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Efficacy of Repeated Low-Level Red Light (RLRL) Therapy in Managing Childhood Myopia: A Systematic Review and Meta-Analysis.
J Clin Med
December 2024
Faculty of Physics, University of Warsaw, Pasteura 5, 02-093 Warszawa, Poland.
: As Repeated Low-Level Red Light (RLRL) therapy is becoming increasingly prevalent in clinical practice, mainly in the Far East, largely due to its child-friendly nature and the feasibility of home use, this study aims to conduct a systematic review and meta-analysis to evaluate the efficacy of RLRL therapy in managing childhood myopia, specifically in relation to axial length (AL) and spherical equivalent refraction (SER), across a larger group of children aged from 6 to 16 years. : A systematic literature search was performed using PubMed, Scopus, and Web of Science to access relevant databases and to locate outcome studies. Eligibility criteria included publication type, participant characteristics, and outcomes report.
View Article and Find Full Text PDFNovel Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies.
Int J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFLangerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.
View Article and Find Full Text PDFIdentifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy.
Gene Ther
January 2025
Departments of Pediatrics and Neurology, Emory University, Atlanta, 30322, Georgia.
Spinal muscular atrophy (SMA) is a progressive disease that affects motor neurons, with symptoms usually starting in infancy or early childhood. Recent breakthroughs in treatments targeting SMA have improved both lifespan and quality of life for infants and children with the disease. Given the impact of these treatments, it is essential to develop methods for managing treatment-induced changes in disease characteristics.
View Article and Find Full Text PDFA Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
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