Results 111 to 120 of about 62,771 (244)

Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]

open access: yes, 2019
Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T   +4 more
core  

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

A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1

open access: yesSAGE Open Medicine, 2019
Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning.
Alice Heaney   +6 more
doaj   +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

Manifestaciones clínicas y neurorradiológicas en los adultos con neurofibromatosis tipo 1

open access: yesNeurología, 2013
Resumen: Introducción: La neurofibromatosis tipo 1 es el trastorno neurocutáneo más frecuente. La mayoría de las series de casos publicadas son sobre la población pediátrica. Material y métodos: Estudio transversal de los casos de neurofibromatosis tipo
P.E. Jiménez Caballero   +5 more
doaj   +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

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

open access: yesFEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig   +7 more
wiley   +1 more source

Cerebellar Cystic Metastasis—An Unusual Presentation of Prostate Adenocarcinoma Dissemination: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Although prostate cancer is among the most common malignant tumors in men, brain metastases from prostatic cancer are infrequent. Brain dissemination is especially rare with the most frequent histological type of prostatic adenocarcinoma. We present a case of a cystic‐hemorrhagic cerebellar metastasis with a solid enhancing component in a ...
Mia Smoljan Basuga   +5 more
wiley   +1 more source

Successful Haplo‐Hematopoietic Stem Cell Transplantation for Juvenile Myelomonocytic Leukemia in a Child With Underlying Thrombocytopenia‐Absent Radius Syndrome: A Unique Case

open access: yesCancer Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background Thrombocytopenia‐absent radius (TAR) syndrome is a rare congenital disorder characterized by bilateral radial aplasia with preserved thumbs and early‐onset thrombocytopenia. While hematologic and skeletal abnormalities define the condition, its association with hematologic malignancies is extremely rare, with only a few reported ...
Sondus Al Sharidah   +3 more
wiley   +1 more source

Neurofibromatosis type 1: Surgical Perspectives

open access: yesThe Annals of African Surgery, 2011
Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut.
Nthumba PM, MMed(Surg),FCS(ECSA), Plastic Surgery Fellowship   +1 more
doaj  

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