Pharmacological Approaches in Neurofibromatosis Type 1-Associated Nervous System Tumors
Neurofibromatosis type 1 is an autosomal dominant genetic disease and a common tumor predisposition syndrome that affects 1 in 3000 to 4000 patients in the USA.
Abeer Gharaibeh +4 more
core +1 more source
Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination
Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Tine Gregersen +5 more
doaj +1 more source
Neurofibromatosis Type 1 and Sporadic Optic Gliomas
The natural history of sporadic optic gliomas was compared with that of optic gliomas associated with neurofibromatosis type 1 (NF1) in a study using a Children’s Tumor Registry (CTR) and an NF1 Database (NF1DB) at St Mary’s Hospital, Manchester, UK.
J Gordon Millichap
doaj +1 more source
MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.
P. de Blank +31 more
semanticscholar +1 more source
Brain tumors in neurofibromatosis type 1
AbstractAs a cancer predisposition syndrome, individuals with neurofibromatosis type 1 (NF1) are at increased risk for the development of both benign and malignant tumors.
Amanda de Andrade Costa, D. Gutmann
semanticscholar +1 more source
Beyond protective factors and normal IQ in preterm children: More executive disorders than expected
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau +9 more
wiley +1 more source
An example of an alternative method of communication of a patient with neurofibro-matosis in the socio-cultural environment [PDF]
The article presents a case of severe, systemic disease neurofibromatosis type 1 inherited in an autosomal dominant pattern, the patient 62 years. Summarized data of the etiology, pathogenesis, clinical picture.
Eremina M.G., Muratova D.S., Utz S.R.
doaj
Treatment of ADHD in Neurofibromatosis Type 1
The cognitive and behavioral problems and effects of treatment of attention deficit hyperactivity disorder (ADHD) in 20 children with NF1 and ADHD were compared to 26 control children with NF1, 14 controls with ADHD, and 14 controls with normal ...
J Gordon Millichap
doaj +1 more source
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
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
A rare case of neurofibromatosis - type 1
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

