Results 101 to 110 of about 39,307 (247)
, 2015 Carmen Sílvia Miguel, Tiffany M Chaim-Avancini, Maria Aparecida Silva, Mario Rodrigues LouzãAdult Attention Deficit Hyperactivity Disorder Program (PRODATH), Institute of Psychiatry, University of São Paulo, São Paulo ...
Louzã MR +3 more
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Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani +12 more
wiley +1 more source
Constipation in adults with neurofibromatosis type 1
Orphanet Journal of Rare Diseases, 2017 Background Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times ...
Cecilie Ejerskov +4 more
doaj +1 more source
A rare case of neurofibromatosis - type 1
Asian Journal of Neurosurgery, 2015 Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant familial tumor syndrome. Glioblastoma is a malignant brain tumor but is a rare occurrence in patients with NF1. Here, we report a rare occurrence of glioblastoma in a 60-year-old man with NF1, who presented with headache, neck pain, and gait unsteadiness ...
Varghese, Prithvi +1 more
openaire +3 more sources
Hypopituitarism Associated with Neurofibromatosis Type 1: Report of One Case
, 2009 Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a wide range of clinical manifestations. Hydrocephalus unrelated to brain tumors is rare in neurofibromatosis type 1.
王崇怡;楊千立;朱麗雯;蔡文友 +1 more
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We present the case of successful endovascular abdominal aortic aneurysm repair (EVAR) in a 55-year-old male who presented with a ruptured infrarenal aortic pseudoaneurysm, formed after spontaneous avulsion of the inferior mesenteric artery. The avulsion
Nikolaos Krinos +16 more
core +1 more source
Multiple Bilateral Choroidal Nevi in Case of Neurofibromatosis Type 1
, 2021 Neurofibromatosis type 1 is a disease with many clinical manifestations, some of which are seen in the eyes. Multiple choroidal nevi are rarely reported in association with neurofibromatosis-I (NF1).
Ryan Harpole; Logan Dehoff; Ramiro Maldonado; Padmaja Sudhakar
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A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Building a precision therapeutics program at a tertiary care children's hospital
Pediatric Investigation, EarlyView.
Luke Hamilton +8 more
wiley +1 more source
Obesity Reviews, EarlyView.ABSTRACT Introduction Many survivors of childhood brain tumors face long‐term adverse health outcomes like obesity. Uncertainties surround the effect of interventions to manage obesity‐related outcomes in survivors of childhood brain tumors. The goal of this updated systematic review and meta‐analysis was to provide the best estimate of the treatment ...
David Hart +11 more
wiley +1 more source