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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 PDFHemorrhagic Shock Due to a Gastrointestinal Stromal Tumor in a Patient With Neurofibromatosis Type 1: A Case Report.
Cureus
December 2024
Trauma Institute, Saint Francis Health System, Tulsa, USA.
Gastrointestinal stromal tumors (GISTs), though rare, are associated with neurofibromatosis (NF) type 1 and may cause significant gastrointestinal bleeding. A 42-year-old male with NF1 presented with severe hematochezia and underwent initial non-contrast CT, which was negative for abnormalities. Subsequent endoscopies and PillCam studies also revealed no clear bleeding source.
View Article and Find Full Text PDFComparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring.
Sci Rep
January 2025
Department of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
To compare 1D (linear) tumor volume calculations and classification systems with 3D-segmented volumetric analysis (SVA), focusing specifically on their effectiveness in the evaluation and management of NF2-associated vestibular schwannomas (VS). VS were clinically followed every 6 months with cranial, thin-sliced (< 3 mm) MRI. We retrospectively reviewed and used T1-weighted post-contrast enhanced (gadolinium) images for both SVA and linear measurements.
View Article and Find Full Text PDFT-Cell Prolymphocytic Leukemia With PDGFRB Rearrangement in the Setting of Neurofibromatosis Type 1.
Int J Lab Hematol
January 2025
Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
A 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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