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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.
Biomedicines
January 2025
Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).
View Article and Find Full Text PDFAcademic Achievement of Children With Neurofibromatosis Type 1.
Pediatrics
January 2025
University of Texas MD Anderson Cancer Center, Houston, TX.
Background And Objectives: Learning difficulties are frequently reported in children with neurofibromatosis type 1 (NF1), yet little is known about the extent and predictors of their academic functions across ages. We aimed to examine the developmental patterns of academic achievement in these children from childhood to adolescence and how these patterns differ across demographic and NF1-related disease factors.
Methods: This cross-sectional study integrated data of 1512 children with NF1 (mean age, 11.
Disproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS.
Front Pharmacol
January 2025
Department of Oncology, Zibo Municipal Hospital, Zibo, ShanDong, China.
Background: Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder with limited treatment options. Selumetinib, a MEK1/2 inhibitor, has emerged as a promising therapy for inoperable NF1-related plexiform neurofibromas.
Methods: Our retrospective pharmacovigilance study utilized the FDA Adverse Event Reporting System (FAERS) to comprehensively evaluate Selumetinib's safety profile in real-world settings.
Selumetinib for children with neurofibromatosis type 1 and plexiform neurofibromas that can't be removed by surgery, and impact on how the condition affects caregivers: a plain language summary.
J Comp Eff Res
January 2025
Head of the 3rd Neuropsychiatric Department of the Research Clinical Institute of Childhood of the Moscow Region, Moscow, Russia.
What Is This Summary About?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas.
View Article and Find Full Text PDFA rare presentation of neurofibromatosis mimicking leprosy.
J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
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