Results 31 to 40 of about 1,223 (121)

Multiple Sclerosis and MEN2 Neoplasia in a Female Patient: A Unique Co-Existence with Expanded Immunological Interest and Therapeutical Challenges, before and after Patient’s COVID-19 Infection

Biomedicines, 2022
Multiple sclerosis (MS) and its various comorbidities that may be observed are of great interest due to the complexity of MS pathophysiology and all of the immunological changes that follow. The incidence of cancer in MS has been investigated for several
Nikolaos Markoglou, George Simeakis, Maria Alevizaki, Georgios Velonakis, Theofanis Chatzistamatiou, Maria Spyropoulou-Vlachou, Catherine Stavropoulos-Giokas, Leonidas Stefanis, Maria Anagnostouli   +8 more
doaj   +1 more source

A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract

Case Reports in Medicine, 2012
Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait.
Banafshe Shahnazari, Aria Aghamaleki, Bagher Larijani, Mohammad Reza Mohajeri Tehrani, Hasan Rafati, Abdolreza Babamahmoodi   +5 more
doaj   +1 more source

PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential

iScience, 2020
Summary: The RET proto-oncogene encodes receptor tyrosine kinase, expressed primarily in tissues of neural crest origin. De-regulation of RET signaling is implicated in several human cancers.
Leena Yadav, Elina Pietilä, Tiina Öhman, Xiaonan Liu, Arun K. Mahato, Yulia Sidorova, Kaisa Lehti, Mart Saarma, Markku Varjosalo   +8 more
doaj   +1 more source

Molecular Modelling Studies on Pyrazole Derivatives for the Design of Potent Rearranged during Transfection Kinase Inhibitors

Molecules, 2021
RET (rearranged during transfection) kinase, one of the receptor tyrosine kinases, plays a crucial role in the development of the human nervous system.
Swapnil P. Bhujbal, Seketoulie Keretsu, Seung Joo Cho   +2 more
doaj   +1 more source

New mutations associated with Hirschsprung disease

Anales de Pediatría (English Edition), 2020
Introduction: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus.
Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera-García   +6 more
doaj   +1 more source

Ocular manifestations as diagnostic clues in multiple endocrine neoplasia type 2B: A case-based approach

Indian Journal of Ophthalmology. Case Reports
Multiple endocrine neoplasia (MEN) comprises a group of inherited disorders affecting multiple endocrine glands, classified into MEN1, MEN2A, MEN2B, and MEN3 based on the pattern of glandular involvement.
Bhakti Gade, Satish Shitole, Ashwini Sonkamble, Mehendi Nagda   +3 more
doaj   +1 more source

Cushing disease in a patient with multiple endocrine neoplasia type 2B

Journal of Clinical and Translational Endocrinology Case Reports, 2017
Context: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma.
Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A. Stratakis, Brigitte Widemann, Maya Lodish   +9 more
doaj   +1 more source

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience

Endocrine Oncology, 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 ...
José V Lima Jr, Nilza M Scalissi, Kelly C de Oliveira, Susan C Lindsey, Caroline Olivati, Elisa Napolitano Ferreira, Claudio E Kater   +6 more
doaj   +1 more source

Nuevas mutaciones asociadas a la enfermedad de Hirschsprung

Anales de Pediatría, 2020
Resumen: Introducción: La enfermedad de Hirschsprung está causada por un defecto de la migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico.
Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera García   +6 more
doaj   +1 more source

Asymptomatic Medullary Thyroid Carcinoma With Isolated Carcinoembryonic Antigen Elevation in a Patient With Chronic Kidney Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Medullary thyroid carcinoma (MTC) is rare and typically presents with a palpable nodule. We report a 64‐year‐old asymptomatic woman with chronic kidney disease (CKD) diagnosed with MTC after incidental procalcitonin elevation on routine labs, highlighting procalcitonin as an atypical clue and the need to distinguish tumor‐related from CKD ...
Orhan Altınyüzük, Bartu Ediz, Serkan Feyyaz Yalın, Ergün Parmaksız   +3 more
wiley   +1 more source