Results 51 to 60 of about 38,110 (241)

Glomus Tumors and Neurofibromatosis: A Newly Recognized Association

Plastic and Reconstructive Surgery, Global Open, 2014
Background: Glomus tumors are painful benign tumors arising from the neuromyoarterial elements of the glomus body, typically in a subungual location. Historically, glomus tumors have been considered isolated or sporadic, not typically associated with ...
Bridget Harrison, MD, Douglas Sammer, MD
doaj   +1 more source

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type I: Diagnosis after Intestinal Occlusion Secondary to Adhesions after an Episode of Pancreatitis

Revista Brasileira de Cancerologia, 2023
Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically
Pamela Viana e Silva, Thiago Menezes Costa, Renanna Najara Veras Rodrigues, Carlos Anselmo Lima   +3 more
doaj   +1 more source

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]

, 2013
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO, Nicita F, PAOLINO, MARIA CHIARA, PARISI, Pasquale, PERSECHINO, Severino, Torrente I, VILLA, MARIA PIA   +6 more
core   +2 more sources

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Oral manifestations in neurofibromatosis type I: A case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to
Ashwinirani Suragimath, Shobha Channabasappa Bijjargi, Abhijeet R Sande, Veerendra S Patil   +3 more
doaj   +1 more source

Microsurgical autologous fibula transfer as an optimal method for closure of extensive bone defects in children with neurofibromatosis

Гений oртопедии, 2023
Introduction Pseudarthrosis and bone defects are the most common consequence of neurofibromatosis type I in children, a rare hereditary disease. Destruction of bone tissue leads to severe deformities and impaired function of the limbs.
Sergey I. Golyana, Tatiana I. Tikhonenko, Natalia S. Galkina, Denis Yu. Grankin   +3 more
doaj   +1 more source

NEUROFIBROMATOSIS TYPE I : CASE REPORT

Journal of Evolution of Medical and Dental Sciences, 2014
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuro ectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I(NF-1), known as well as Recklinghausen's disease, we have presented a case report of 10 year old boy with complain of scalp ...
Neha Gupta, Poonam Gupta, Baberwal M C, Hemant Mishra   +3 more
openaire   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Generalized metabolic bone disease in Neurofibromatosis type I [PDF]

Molecular Genetics and Metabolism, 2008
Skeletal abnormalities are a recognized component of Neurofibromatosis type I (NF1) but a generalized metabolic bone defect in NF1 has not been fully characterized thus far. The purpose of this study was to characterize at the densitometric, biochemical and pathological level the bone involvement in NF1 patients. Using dual energy X-ray absorptiometry (
BRUNETTI PIERRI, NICOLA, Doty SB, Hicks J, Phan K, Mendoza Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, Smith EO, Ellis KJ, Lee B.   +13 more
openaire   +3 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source