Results 91 to 100 of about 54,369 (243)

Neurofibromatosis and insulinoma [PDF]

, 1995
A 45-year-old man with neurofibromatosis presented with recurrent seizures due to hypoglycaemia caused by an insulinoma. The attacks were abolished after the successful removal of the insulinoma.
Lam, KSL, K S Lam, Fung, JWK, J W Fung
core   +1 more source

Accelerated long‐term forgetting in children with neurofibromatosis type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib, Melanie Porter, Jonathan M Payne, Shelley Arnold, Kristina M Haebich, Dinberu Shebeshi, Suncica Lah, Michael Gascoigne, Natalie A Pride   +8 more
wiley   +1 more source

Surgical excision of Genitourinary neurofibromatosis complicated by enlarged scrotum and penis: A case report

Urology Case Reports
Neurofibromatosis, the most common neurocutaneous syndrome, is characterized by numerous neural crest tumors and abnormal skin pigmentation. Genitourinary neurofibromatosis in children is extremely rare and bladder involvement is relatively common.
Jiaqi An, Jianwei Wang, Zhengqing Bao
doaj   +1 more source

Beyond protective factors and normal IQ in preterm children: More executive disorders than expected

Journal of Neuropsychology, EarlyView.
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, Jean‐Baptiste Muller, Amanda Guerra, Cécile Boscher, Anne Frondas, Jean‐Christophe Rozé, Cyril Flamant, Clair‐Yves Boquien, Laure Simon, Arnaud Roy   +9 more
wiley   +1 more source

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, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M., Ronald Poulsen R., Cristián Mardones S.   +2 more
doaj  

Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex

Journal of Patient-Reported Outcomes
Background Almost all patients with Neurofibromatosis type 1 (NF1) develop cutaneous neurofibroma (cNF), benign dermal tumours that have a large impact on the patient’s Quality of Life (QoL).
Britt A. E. Dhaenens, Sarah A. van Dijk, Laura Fertitta, Walter Taal, Pierre Wolkenstein, Rianne Oostenbrink   +5 more
doaj   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +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

Neurofibromatosis [PDF]

Proceedings of the Royal Society of Medicine, 1930
J. M. Alexander, W. G. Wyllie
openaire   +4 more sources