Results 31 to 40 of about 8,287 (164)

Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634) [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Introduction. The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the ...
Ješić Maja D., Tančić-Gajić Milina, Ješić Miloš M., Živaljević Vladan, Sajić Silvija, Vujović Svetlana, Damjanović Svetozar   +6 more
doaj   +1 more source

A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family

Diagnostics, 2023
This paper illustrates a rare syndrome of multiple endocrine neoplasia type 2A (MEN2A) in a family of three generations. In our case, the father, son and one daughter developed phaeochromocytoma (PHEO) and medullary thyroid carcinoma (MTC) over a period ...
Lan Chen, Jing-Xin Zhang, Dong-Ge Liu, Hong-Gang Liu   +3 more
doaj   +1 more source

Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
Although technological progress revolutionized detection of genetic predisposition to medullary thyroid cancer (MTC), carriers of mutations of disparate risks may not have benefitted alike from screening.This investigation aimed at assessing the achievements of screening for multiple endocrine neoplasia type 2A (MEN 2A) in Germany and identifying ...
Andreas, Machens, Henning, Dralle
openaire   +2 more sources

A Vietnamese MEN2A syndrome patient with C634G germline mutation of the RET proto-oncogene

Journal of Clinical and Translational Endocrinology Case Reports, 2019
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare, autosomal dominant disease. It is characterized by complete penetrance of medullary thyroid carcinoma (MTC), lower prevalence of pheochromocytoma, hyperparathyroidism, and sometimes cutaneous ...
Pham Le Bich Hang, Nguyen Thi Thanh Hoa, Dao Duc Phong, Mac Thi Thom, Nguyen Dang Ton, Le Thi Thu Hien, Nong Van Hai, Nguyen Hai Ha   +7 more
doaj   +1 more source

MEN 2A WITH PRIMARY HYPERPARATHYROIDISM AND INTRATHYROIDAL PARATHYROID TISSUE: A RARE CASE REPORT

Atatürk Üniversitesi Tıp Fakültesi Cerrahi Tıp Bilimleri Dergisi, 2023
Multiple endocrine neoplasia type 2 (MEN Type 2) syndrome (Sipple syndrome) is a syndrome associated with mutations in the autosomal dominant inherited RET protooncogene.
İlyas Çapoğlu, Arzu Bilen, Sare Şipal, Zehra Altınkaynak, Sevilay Özmen, İbrahim Karabulut, Rabia Selen   +6 more
doaj  

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

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, EarlyView.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

The Turkish Journal of Ear Nose and Throat
Objective: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited tumour syndrome and primary hyperparathyroidism (pHPT) is one of the major components of MEN2A.
Hülya Hacışahinoğulları, Onour Chasan, Gamze Bilik Oyman, Ümmü Mutlu, İsmail Cem Sormaz, Gülşah Yenidünya Yalın, Nurdan Gül, Ayşe Kubat Üzüm, Yasemin Giles Şenyürek, Özlem Soyluk Selçukbiricik   +9 more
doaj   +1 more source

Impact of Chemotherapy on Sperm Functional Characteristics in Patients With Testicular Germ Cell Tumours

Andrology, EarlyView.
ABSTRACT Background Testicular germ cell tumours (TGCT) are the most common malignancies among young men and represent a major threat to reproductive health. Both the disease itself and oncological treatments, particularly chemotherapy, can compromise spermatogenesis and semen quality.
Ondrej Sanovec, Ondrej Simonik, Zuzana Kratka, Lukas Ded, Jana Vondrakova, Maryam Qasemi, Barbora Bryndova, Michala Krejci, Daniela Spevakova, Vishma Pratap Sur, Radomir Kren, Tomas Hradec, Pavel Skrobanek, Ludmila Boublikova, Libor Zamecnik, Tomas Buchler, Jiri Neuzil, Pavla Postlerova, Katerina Komrskova   +18 more
wiley   +1 more source

RESULTADO DE DIAGNÓSTICO PRECOZ Y CIRUGÍA PROFILÁCTICA EN CARCINOMA MEDULAR HEREDITARIO DEL TIROIDES

Revista Médica Clínica Las Condes, 2018
Resumen: El cáncer medular de tiroides (CMT) es un tumor originado en las células parafoliculares tiroideas. En el 25% de los casos, los CMT son hereditarios y ocurren en el contexto de las neoplasias endocrinas múltiples tipo 2 (NEM2) A y B.
José Miguel Domínguez R-T
doaj   +1 more source