Results 111 to 120 of about 55,225 (233)

Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]

, 2016
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
core   +2 more sources

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, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup   +4 more
doaj   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Bone absorption and deformity in mandible as initial symptom and manifestation of neurofibromatosis type 1: A case report and literature review

Oral Oncology Reports
Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited genodermatosis disease and tumor susceptibility syndrome with a prevalence of 1/6000–1/3000 reported in most epidemiological studies and 1/3333–1/2558 in live births.
Lini Deng, Yi Wang, Xianwang Xiang, Chuanjun Chen   +3 more
doaj   +1 more source

The Efficacy of Pharmacotherapy Intervention on Anthropometric Outcomes in Survivors of Childhood Brain Tumors: An Updated Systematic Review and Meta‐Analysis

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, Lawrence Mbuagbaw, Joseph Beyene, Marwa Akola, Sarah Burrow, M. Constantine Samaan, Lehana Thabane, Adam Fleming, Donna L. Johnston, Shahrad R. Rassekh, Laura Banfield, Russell J. de Souza   +11 more
wiley   +1 more source

Equatorial Staphyloma Associated with Neurofibromatosis Type 1

Case Reports in Ophthalmology, 2016
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye
Yoshiaki Shimada, Masayuki Horiguchi
doaj   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Transfusion‐related alpha‐gal syndrome: Two new cases expanding the demographic and geographic spectrum, and evidence of a diagnostic gap in allergic transfusion reaction evaluation

Transfusion, EarlyView.
Abstract Background Transfusion‐related alpha‐gal syndrome (TRAGS) has recently been proposed as a cause of allergic transfusion reactions (ATRs) in which alpha‐gal‐specific IgE in sensitized group O (or potentially group A) recipients reacts with epitopes on group B or AB plasma‐containing components.
Mackenzie Foster, Miriam Brown, Angela Mueller, Toufik Tahiri, Kaycie Atchison, Deva Sharma, Cosby A. Stone Jr., Jonathan Tucci, Garrett S. Booth, Jeremy W. Jacobs   +9 more
wiley   +1 more source

Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano, Alexander Yelak, Walid Kaadan, Shlomo Caduri, Rivka Friedland, Orli Michaeli, Gad Dotan, Osnat Konen   +7 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source