Results 61 to 70 of about 86,851 (276)

Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada

Orphanet Journal of Rare Diseases
Background and objectives Neurofibromatosis type 1 (NF1) is a multisystemic disease, characterized by cutaneous manifestations and peripheral nerve sheath tumors.
Ajith Sivadasan, Alejandro Hernandez, Elisa Candido, Patricia C. Parkin, Karen Tu, Meg Mendoza, Carolina Barnett-Tapia   +6 more
doaj   +1 more source

An innovative resection of giant neurofibromas

Chinese Journal of Plastic and Reconstructive Surgery
Background: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang, Xuan Yu, Yihui Gu, Wei Wang, Chengjiang Wei, Bin Gu, Jun Yang, Qingfeng Li   +7 more
doaj   +1 more source

Neurofibromatosis 1 [PDF]

European Journal of Human Genetics, 2006
Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis.
openaire   +2 more sources

Deciphering and Targeting the Schwannoma‐Neuron‐Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain

Advanced Science, EarlyView.
We established patient‐derived SWN cell lines and orthotopic PDX models that recapitulate patient pain phenotypes, alongside a novel intravital DRG imaging platform to track macrophage infiltration and neuronal pain responses. Using these models, we define HMGB1–CCL2–IL‐6 signaling crosstalk driving pain and identify EGF signaling as a key regulator of
Zhenzhen Yin, Limeng Wu, Yanling Zhang, Yao Sun, Grace Y. Lee, Simeng Lu, Xing Gao, John W. Chen, Sonu Subudhi, William Ho, Chao Zhu, Jun Ren, Gino B. Ferraro, Alona Muzikansky, Anat Stemmer‐Rachamimov, Jianren Mao, Scott R. Plotkin, Lei Xu   +17 more
wiley   +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

The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation. [PDF]

, 2017
Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs).
Castillon, Guillaume A, Cimino, Patrick J, Ellisman, Mark H, Gianino, Scott M, Gutmann, David H, Lee, Da Yong, Ma, Yu, Pan, Yuan, Solga, Anne C, Toonen, Joseph A   +9 more
core   +3 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

Journal of Medical Case Reports, 2012
Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu, Choi Young, Gwoo Sangeon, Park Yo, Yang Song I, Kim Jeong   +5 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

A literature review on surgery for cervical vagal schwannomas [PDF]

, 2015
Cervical vagal schwannoma is a benign, slow-growing mass, often asymptomatic, with a very low lifetime risk of malignant transformation in general population, but diagnosis is still a challenge.
A Peyvandi, A Ziadi, AL Moroni, BK Lahoti, D Biswas, E Langner, EN Callum, GC Kang, Giada Pattaro, Gianfranco Silecchia, Giuseppe Cavallaro, H Liu, J Valentino, JL Roh, KC Chiun, KR Hwang, L Rogers, Marcello Avallone, MG Chiofalo, MJ Gibber, MK Bhayani, MR Sreevatsa, NG McGuire, Olga Iorio, R Bilancia, R Matsuo, R Yasumatsu, RI Rückert, RM Lee, RS Murley, SH Kim, T Ogawa   +31 more
core   +2 more sources