Results 51 to 60 of about 27,346,886 (339)

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1

Clinics, 2008
OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients.
Karin Soares Gonçalves Cunha, Eliane Porto Barboza, Eliene Carvalho da Fonseca   +2 more
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [PDF]

PLoS ONE, 2018
BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso   +10 more
doaj   +1 more source

Dynamic contrast-enhanced MRI and sequential CT findings of metaplastic breast carcinoma in neurofibromatosis type 1: A case report

Radiology Case Reports, 2023
Metaplastic breast carcinoma in neurofibromatosis type 1 is extremely rare. There are few reports about dynamic contrast-enhanced MRI findings and sequential CT findings of metaplastic breast carcinoma in neurofibromatosis type 1.
Saya Ando, MD, Shuichi Ito, MD, Kazuna Kawabata, MD, PhD, Mitsunori Kanagaki, MD, PhD, Yoichiro Hijikata, MD, Marina Kiso, MD,PhD, Sadatoshi Tsuzuki, MD, Hiroyuki Kimura, MD, PhD   +7 more
doaj   +1 more source

Pediatric neurofibromatosis 1 and parental stress: a multicenter study

Neuropsychiatric Disease and Treatment, 2014
Background Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is ...
M. Esposito, R. Marotta, M. Roccella, B. Gallai, L. Parisi, S. Lavano, M. Carotenuto   +6 more
semanticscholar   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

A multicenter study of neurofibromatosis type 1 utilizing deep learning for whole body tumor identification

npj Digital Medicine
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body
Cheng-Jiang Wei, Yan Tang, Yang-Bai Sun, Tie-Long Yang, Cheng Yan, Hui Liu, Jun Liu, Jing-Ning Huang, Ming-Han Wang, Zhen-Wei Yao, Ji-Long Yang, Zhi-Chao Wang, Qing-Feng Li   +12 more
doaj   +1 more source

Anesthetic management of a patient with type 1 neurofibromatosis and an occult pheochromocytoma: a case report

Brazilian Journal of Anesthesiology, 2023
Neurofibromatosis type 1 is a complex genetic disorder affecting multiple organ systems. Cardiovascular manifestations include hypertension, often associated with concomitant pheochromocytoma.
Polyxeni Theodosopoulou, Constantinos Nastos, Anteia Paraskeva   +2 more
doaj   +1 more source

Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma [PDF]

, 2018
Conventional differential expression analyses have been successfully employed to identify genes whose levels change across experimental conditions.
Bush, Erin C, Duron, Christina, Gutmann, David H, Hardin, Johanna, Ma, Yu, Pan, Yuan, Radunskaya, Ami, Sims, Peter A   +7 more
core   +5 more sources