Results 21 to 30 of about 1,223 (121)

A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)—Case Report

Children, 2023
Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome with prevalence estimated at approximately 0.2 per 100,000; it is caused by mutation of the RET proto-oncogene.
Magdalena Mierzwa, Małgorzata Blaska, Marek Hamm, Agnieszka Czarniecka, Jolanta Krajewska, Anna Taczanowska-Niemczuk, Agnieszka Zachurzok   +6 more
doaj   +1 more source

Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

BMC Ophthalmology, 2023
Background Pure mucosal neuroma syndrome (MNS), an autosomal dominant neurocutaneous disorder, is a rare discrete subgroup in multiple endocrine neoplasia (MEN) type 2B, which present without associated endocrinopathies of MEN2B but with typical physical
L Yin, YNZ Wang, J Zhu, CY Tan, C Sun, Y Yao   +5 more
doaj   +1 more source

Coexistence of Slipped Capital Femoral Epiphysis and multiple endocrine neoplasia type 2B (MEN2B) - a case report

Journal of Education, Health and Sport, 2023
Introduction: MEN 2B syndrome is distinguished by the occurrence of medullary thyroid cancer, pheochromocytoma, mucosal neuromas, marfanoid features, and skeletal anomalies, including kyphoscoliosis, joint laxity, pes cavus, and, in a smaller number of ...
Kamila Kędra, Maciej Bielak, Izabela Michalik, Julia Zarańska, Arkadiusz Aab, Karolina Bielak   +5 more
doaj   +1 more source

Streamlining Thyroidectomy Treatment with a Multidisciplinary Approach: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Multiple Endocrine Neoplasia 2 (MEN2) is a rare genetic disorder that affects the endocrine glands and can lead to the development of tumours in the thyroid gland, parathyroid gland, and adrenal glands.
Avilash Mohapatra, Deepanshi Vashishtha, Srikanta Padhan   +2 more
doaj   +1 more source

MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B: A CASE REPORT

Alʹmanah Kliničeskoj Mediciny, 2016
This article provides our own clinical observation of the patient with multiple endocrine neoplasia type 2B (MEN2B) associated with a  germinal mutation in the RET proto-oncogene.
E. A. Troshina, N. V. Mazurina, O. V. Logvinova   +2 more
doaj   +1 more source

Multiple Endocrine Neoplasia in Childhood: An Update on Diagnosis, Screening, Management and Treatment

Endocrines, 2022
Multiple endocrine neoplasia (MEN) is a group of heterogenous syndromes characterized by the occurrence of two or more endocrine gland tumors in a patient or related individuals in the same family.
Marianne Jacob, Dustin Rowland, Oksana Lekarev, Berrin Ergun-Longmire   +3 more
doaj   +1 more source

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. [PDF]

PLoS Genetics, 2012
Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times ...
Soo-Kyung Choi, Song-Ro Yoon, Peter Calabrese, Norman Arnheim   +3 more
doaj   +1 more source

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review

BMC Pediatrics, 2020
Background The occurrence of multiple endocrine neoplasia type 2B (MEN2B) in Asians is very rare. In particular, patients with intractable constipation as the main clinical manifestation are even rarer. Atypical clinical manifestations are likely to lead
Lidan Zhang, Yan Guo, Lei Ye, Wenli Lu, Zhiya Dong, Wei Wang, Yuan Xiao   +6 more
doaj   +1 more source

Bowel Perforation in a Patient with Pheochromocytoma, Multiple Endocrine Neoplasia Type 2B and Diffuse Intestinal Ganglioneuromatosis: A Case Report [PDF]

Journal of Acute Care Surgery
Pheochromocytoma and intestinal ganglioneuromatosis are rare entities, associated with Multiple Endocrine Neoplasia Type 2B (MEN2B), but rarely associated with colonic pseudo-obstruction and ischemia.
Julian Wang, Hilary Meggison, Heather Lochnan, Sylvie D. Aucoin, Nada Gawad   +4 more
doaj   +1 more source

Nervios corneales prominentes como manifestación inicial en el síndrome de neoplasia endocrina múltiple tipo 2B

Revista Mexicana de Oftalmología, 2015
Introducción: El síndrome de neoplasia endocrina múltiple tipo 2B (MEN2B) es una entidad particular dentro de los síndromes de neoplasias endocrinas por la presencia de las características sistémicas.
Vianney Cortés-González, Victoria González-Chávez, Karla L. Robles-López, Cristina Villanueva-Mendoza   +3 more
doaj   +1 more source