Results 1 to 10 of about 1,223 (121)

Coexistence of Multiple Endocrine Neoplasia Type 2B and Centri‐Acinar Emphysema With Alpha‐1 Antitrypsin Deficiency: A Case Report [PDF]

Respirology Case Reports
Alpha‐1 antitrypsin deficiency (AATD) is a hereditary disorder that reduces a key lung‐protective protein, predisposing individuals to early‐onset emphysema.
Mohammad Javad Mohammadifard, Abolfazl Taghinejad, FatemehAlsadat AghaeiMeybodi   +2 more
doaj   +3 more sources

Case Report: a rare pediatric case series of multiple endocrine neoplasia type 2B presenting with laryngotracheal involvement [PDF]

Frontiers in Endocrinology
BackgroundMultiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant genetic disorder caused by activating germline mutations in the RET proto-oncogene, typically arising during embryogenesis.
Zhibo Xie, Jiarui Chen, Hongming Xu, Xiaoyan Li   +3 more
doaj   +2 more sources

p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease [PDF]

Endocrine Journal
Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant disorder caused by germline pathogenic RET variants. On the other hand, Charcot–Marie–Tooth disease (CMT) is a hereditary neurological disorder, characterized by distal muscle ...
Mami Sato, Rei Kubota, Shinya Uchino, Takayuki Morita, Ryoyu Niikuni, Teruhisa Udagawa, Yoshiya Hagiwara, Miyako Tanaka, Miku Sato, Yuta Tezuka, Kei Omata, Yoshikiyo Ono, Kazuhiro Haginoya, Noriaki Nakashima, Keisei Fujimori, Takanori Ishida   +15 more
doaj   +2 more sources

Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review [PDF]

Reports
Background and Clinical Significance: Ganglioneuromatosis is a benign proliferation of mature ganglion cells, Schwann cells, and nerve fibers within the enteric or autonomic nervous system.
Catalin-Bogdan Satala, Alina-Mihaela Gurau, Gabriela Patrichi, Daniela Mihalache   +3 more
doaj   +2 more sources

A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion

Case Reports in Endocrinology, 2020
Background. Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and
Raffaele Ciampi, Laura Valerio, Carlotta Giani   +2 more
exaly   +2 more sources

Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing’s syndrome: case report and a systematic review [PDF]

Frontiers in Endocrinology
BackgroundMultiple endocrine neoplasia type 2 (MEN 2)-related ectopic Cushing’s syndrome (ECS) continues to present a clinical challenge due to its rarity and complexity.
Wei Wang, Wei-Ying Chen, Mei-Xian Zhang, Mei-Xian Zhang, Zhen-Yu Chen, Zhi-Lie Cao, Jun-Wei Wang, Wu-Gen Yao, Jian-Qiang Zhao, Fei-Ping Li, Hong-Yuan Yu, Jun Lu, Xiao-Ping Qi, Xiao-Ping Qi   +13 more
doaj   +2 more sources

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation—a homozygous female patient and heterozygous identical twins: a systematic review of literature [PDF]

Frontiers in Endocrinology
BackgroundGermline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized.SummaryWe report two MEN2A families—a homozygous female patient and heterozygous male ...
Xiao-Ping Qi, Xiao-Ping Qi, Yu-Ting Weng, Zhen-Yu Chen, Mei-Xian Zhang, Xiao-Ling Yang, Zhi-Lie Cao, Zhi-Lie Cao, Xue-Xing Zhang, Wen-Bo Zhu, Hong-Yuan Yu, Wei-Ying Chen, Ji-Ya Chen, Fei-Ping Li   +13 more
doaj   +2 more sources

Atypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Medullary thyroid carcinoma (MTC) constitutes 5–10% of thyroid malignancies but accounts for 15% of thyroid cancer-related mortality. Twenty percent of MTC are hereditary and are part of familial MTC or multiple endocrine neoplasia (MEN) syndromes ...
Ananda Mohan Chakraborty, Jayaditya Ghosh, Liza Das, Rajender Kumar, Uma Nahar, Debajyoti Chatterjee, Sanja Medenica, Ashutosh Rai, Pinaki Dutta   +8 more
doaj   +2 more sources

Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature

Biomedical Papers, 2022
Background. We describe early and typical nonendocrine symptoms of Multiple Endocrine Neoplasia type 2B (MEN2B) presented in our patients with de novo M918T mutation in the RET proto-oncogene in early childhood, however, the diagnosis of MEN2B and ...
Renata Pomahacova, Petra Paterova, Eva Nykodymova, Eliska Vaclavikova, Pavla Sykorova, Katerina Personova, Ramir Katra, Ivan Subrt, Josef Sykora   +8 more
doaj   +1 more source

Jesu li bubrežne malformacije jedno od obilježja sindroma MEN2B? – prikaz bolesnika i pregled literature

Liječnički vjesnik, 2023
Sindrom multiple endokrine neoplazije 2B (MEN2B) rijetka je autosomno dominatno nasljedna bolest uzrokovana mutacijama protoonkogena RET. Karakteriziran je pojavom medularnog karcinoma štitnjače već od rane, nerijetko dojenačke dobi, feokromocitoma koji ...
Anita Špehar Uroić, Nataša Rojnić Putarek, Lucija Kolega Mrkić, Sanja Kusačić-Kuna, Ana Merkler Šorgić, Jadranka Sertić, Sanja Perić, Nevena Krnić   +7 more
doaj   +1 more source