Results 21 to 30 of about 8,627 (128)

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

open access: yesSrpski 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.   +6 more
doaj   +1 more source

Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy

open access: yesAmerican Journal of Perinatology Reports, 2011
Multiple endocrine neoplasia (MEN) type 2a (Sipple's syndrome) is characterized by medullary thyroid carcinoma and pheochromocytoma, and in a smaller percentage of cases, multiglandular parathyroid hyperplasia.
David M. Sherer   +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

open access: yesDiagnostics, 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   +3 more
doaj   +1 more source

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

open access: yesJournal 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   +7 more
doaj   +1 more source

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

open access: yesAtatürk 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   +6 more
doaj  

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

open access: yesBMC 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   +5 more
doaj   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay   +5 more
wiley   +1 more source

Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

open access: yesThe 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   +9 more
doaj   +1 more source

Thrombotic Microangiopathy After Spontaneous Pheochromocytoma Rupture: A Rare MEN 2A Case

open access: yesEndocrinology Research and Practice, 2020
Pheochromocytoma is an adrenal medulla-derived tumor originating from the chromaffin cells that produce and secrete catecholamines. These tumors usually occur sporadically, but they may also be associated with genetic diseases, such as multiple endocrine
İlker ÇORDAN   +7 more
doaj   +1 more source

Human biomarker navigator

open access: yesiMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li   +29 more
wiley   +1 more source

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