Results 51 to 60 of about 12,658 (224)

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

Cell death pathways as therapeutic targets in rhabdomyosarcoma [PDF]

, 2012
Resistance of rhabdomyosarcoma to current therapies remains one of the key issues in pediatric oncology. Since the success of most cytotoxic therapies in the treatment of cancer, for example, chemotherapy, depends on intact signaling pathways that ...
Fulda, Simone
core   +1 more source

Pelvic rhabdomyosarcoma causing urinary obstruction

Journal of Pediatric Surgery Case Reports, 2021
Introduction: This is a unique and rare case of a huge pelvic tumour in a child whom primarily presented as acute urinary retention and haematuria after a fall.
Harinthiran V, Zubaidah S, Mohd Shahrulsalam Ms, M.R. Hassan, Ruzaimie Noor, M.N. Tarmizi   +5 more
doaj   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Defining an embryonal rhabdomyosarcoma endotype [PDF]

Molecular Case Studies, 2020
Rhabdomyosarcoma (RMS) is the most common childhood soft-tissue sarcoma. The largest subtype of RMS is embryonal rhabdomyosarcoma (ERMS) and accounts for 53% of all RMS. ERMS typically occurs in the head and neck region, bladder, or reproductive organs and portends a promising prognosis when localized; however, when metastatic the 5-yr overall survival
Cora A. Ricker, Kenneth Crawford, Kevin Matlock, Melvin Lathara, Bernard Seguin, Erin R. Rudzinski, Noah E. Berlow, Charles Keller   +7 more
openaire   +2 more sources

Skull Base Surgery in the Pediatric Population—The 2nd International Collaborative Study (1995–2015)

Head &Neck, EarlyView.
ABSTRACT Background The current study presents the efforts of a global collaborative group to review the management and outcomes of malignant tumors of the skull base in the pediatric population worldwide. Patients and Methods A total of 28 institutions contributed data on 3061 patients. From this, there were 64 pediatric patients (2.1%).
Dan M. Fliss, Omer J. Ungar, Helena Levyn, Cristina Valero, Dauren Adilbay, Alana Eagan, Junting Zheng, Mithat Gonen, Marc A. Cohen, Snehal Patel, Ian Ganly, Prathamesh Pai, Paolo Castelnuovo, Fang Ju Gao, Cesare Piazza, Piero Nicolai, Benedict J. Panizza, James Bowman, Catherine Barnett, Luiz P. Kowalski, Ronaldo N. Toledo, John DeAlmeida, Ian Witterick, Philippe Herman, Walter Fontanella, Gregorio Sanchez Aniceto, Sefik Hosal, Serdar Ozer, Subramania Iyer, Richard Harvey, C. Rene Leemans, Jan‑Jaap Hendrickx, Marcelo Figari, Luis Boccalatte, Ichi Nibu, Peter Clarke, Catherine Rennie, Yiming Zhu, Claudio Cernea, Sergio Goncalves, Rodney Schlosser, Fernando Dias, Zoukaa Sargi, Shahzada Ahmed, Wojciech Golusinski, Se Heon Kim, Shirley Y. Su, Shaan M. Raza, Franco DeMonte, Ehab Hanna, Jatin P. Shah   +50 more
wiley   +1 more source

Long-term renal function and hypertension in adult survivors of childhood sarcoma [PDF]

, 2018
Aim: Little data is available on long-term renal impairment in survivors from childhood sarcoma. We investigated the prevalence of renal impairment and hypertension after very long-term follow-up in survivors who reached adulthood after treatment for ...
Andreoli, Gianmarco, Bonci, Enea, Celani, Camilla, Marrucci, Oriana, Pedetti, Valeria, Schiavetti, Amalia, Varrasso, Giulia   +6 more
core   +1 more source

Can Response Outcomes Predict Survival in Paediatric Patients Receiving Treatment for Relapsed and Refractory Rhabdomyosarcoma? Results From the Living‐REFoRMS Systematic Review

International Journal of Cancer, EarlyView.
Although existing research suggests a limited relationship between survival outcomes and radiological response rates in children with newly diagnosed rhabdomyosarcoma, there is little evidence in the relapsed/refractory setting. Using aggregate data collected from the Living‐REFoRMS dataset of early‐phase trials, the authors established that ...
Preethi Muthukumar, Lucy Shepherd, Sumayya Anwer, Connor Evans, Jessica E. Morgan   +4 more
wiley   +1 more source

PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines [PDF]

, 2018
PARP inhibitors (PARPi) are used in a wide range of human solid tumours but a limited evidence is reported in rhabdomyosarcoma (RMS), the most frequent childhood soft-tissue sarcoma.
Camero, S, Camicia, L, Ceccarelli, S, De Felice, F, Dominici, C, Mannarino, O, Marampon,, Marchese, C, Megiorni, F, Mollace, Mg, Pizer, B, Pizzuti, Antonio, Pontecorvi, P, Schiavetti, A, Shukla, R, Tombolini, V, Vescarelli, E   +16 more
core   +1 more source

Diagnostic and therapeutic approaches of para‐testicular SCRMS in an adolescent patient: A case report

UroPrecision, EarlyView.
Abstract Background Para‐testicular rhabdomyosarcoma (RMS) is a rare and aggressive malignancy primarily affecting children and adolescents, with peak incidence between ages 2 and 5 years. Of the histological variants of RMS, the spindle cell type of RMS is particularly uncommon, accounting for approximately 5% of cases.
Kholoud Alabassi, Yaser M. Ata, Khaled Murshed, Ibrahim A. Khalil, Noheir M. Taha, Khalid Al Rumaihi   +5 more
wiley   +1 more source