Zobrazeno 1 - 10
of 1 172
pro vyhledávání: '"SDHD"'
Publikováno v:
Clinical Case Reports, Vol 12, Iss 4, Pp n/a-n/a (2024)
Key Clinical Messages The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual appro
Externí odkaz:
https://doaj.org/article/d228fa403746498ab0416de0a4a28738
Autor:
José V Lima Jr, Nilza M Scalissi, Kelly C de Oliveira, Susan C Lindsey, Caroline Olivati, Elisa Napolitano Ferreira, Claudio E Kater
Publikováno v:
Endocrine Oncology, Vol 3, Iss 1, Pp 1-11 (2023)
Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25–40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were
Externí odkaz:
https://doaj.org/article/68f533451d434d4693946c33b9d66f78
Autor:
Anasuya Guha, Ales Vicha, Tomas Zelinka, Martin Kana, Zdenek Musil, Karel Pacak, Jan Betka, Martin Chovanec, Jan Plzak, Jan Boucek
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHead and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs,
Externí odkaz:
https://doaj.org/article/bb1e272824924da897650e2cb963f172
Autor:
Yunlong Zhang, Yue Ma, Qingqing Liu, Yifei Du, Liang Peng, Jianwu Zhou, Zhenzhen Zhao, Changchun Li, Shan Wang
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Neuroblastoma(NB) is the most common extracranial solid tumor in childhood, and it is now believed that some patients with NB have an underlying genetic susceptibility, which may be one of the reasons for the multiplicity of NB patients within a fami
Externí odkaz:
https://doaj.org/article/f191ec12b423413e935f4c5cd3567989
Autor:
Kota Itagaki, Hirotsugu Notsuda, Tomoyuki Suzuki, Ryota Tanaka, Hiroki Kamada, Kei Omata, Yuta Tezuka, Hideki Ota, Yoshinori Okada, Yoshikatsu Saiki
Publikováno v:
Surgical Case Reports, Vol 8, Iss 1, Pp 1-8 (2022)
Abstract Background Aortopulmonary mediastinal paragangliomas are rare. Complete resection of the tumor is desirable regardless of tumor size in view of the risk of sudden death induced by adjacent organ compression and poor prognosis after partial r
Externí odkaz:
https://doaj.org/article/e4ab7ba92c4e48b8bff6b5560e98b7b6
Akademický článek
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Publikováno v:
BMC Molecular and Cell Biology, Vol 22, Iss 1, Pp 1-11 (2021)
Abstract Background Succinate dehydrogenase (Complex II) plays a dual role in respiration by catalyzing the oxidation of succinate to fumarate in the mitochondrial Krebs cycle and transferring electrons from succinate to ubiquinone in the mitochondri
Externí odkaz:
https://doaj.org/article/b5b4e5ef56e74b91b30b1972c357ff1c
Autor:
Kay Reen Ting, Pei Yi Ong, Samuel Ow Guan Wei, Rajeev Parameswaran, Chin Meng Khoo, Doddabele Srinivasa Deepak, Soo-Chin Lee
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-11 (2020)
Abstract Background Hereditary paraganglioma (PGL) and pheochromocytoma (PCC) syndromes are rare conditions, with limited data on spectrum of causative gene variants of these syndromes in Asian patients. Methods We describe the clinical characteristi
Externí odkaz:
https://doaj.org/article/cb7eba1770604ae8ac290da41d9c73a5
Akademický článek
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Autor:
Franz Sesti, Tiziana Feola, Giulia Puliani, Roberta Centello, Valentina Di Vito, Oreste Bagni, Andrea Lenzi, Andrea M. Isidori, Vito Cantisani, Antongiulio Faggiano, Elisa Giannetta
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
BackgroundParagangliomas (PGLs) are neuroendocrine neoplasms arising from chromaffin cells of sympathetic or parasympathetic paraganglia. Systemic therapies have been used only in metastatic PGLs. Antiangiogenic agents, such as sunitinib, could be a
Externí odkaz:
https://doaj.org/article/55aa3fcdef3c44b88e764e1d95834abd