Results 111 to 120 of about 38,064 (238)

Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]

open access: yes, 2006
Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C.   +5 more
core   +1 more source

Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors

open access: yesJournal of the European Academy of Dermatology and Venereology, EarlyView.
In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie   +3 more
wiley   +1 more source

Global consensus on the management of melanin hyperpigmentation disorders

open access: yesJournal of the European Academy of Dermatology and Venereology, EarlyView.
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron   +9 more
wiley   +1 more source

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

open access: yesRevista 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.   +2 more
doaj  

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

open access: yes, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C   +6 more
core  

Endoscopic Ultrasound for the Management of Pancreatic Neuroendocrine Tumors: Diagnosis, Treatment, and Future Perspectives

open access: yesJournal of Gastroenterology and Hepatology, EarlyView.
ABSTRACT Pancreatic neuroendocrine tumors (PanNETs) are increasingly diagnosed, reflecting greater clinical awareness, improved imaging, and revised classification. This review summarizes evidence on epidemiology, diagnostic workup, and endoscopic ultrasound (EUS)–guided management of PanNETs, encompassing diagnostic evaluation, tissue acquisition, and
Angelo Bruni   +7 more
wiley   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

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

open access: yesObesity 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

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

open access: yesTransfusion, 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   +9 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

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