Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Introduction In humans, heterozygous loss-of-function mutations in NKX2-1 gene (OMIM #600635) have been reported to cause a complex phenotype called brain-lung-thyroid (BLT) syndrome (OMIM #610978) [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. The BLT
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Dear Editor We thank Drs. Paschou and Vryonidou for their kind remarks about our paper [ 1 ]. The main discussion point they raise is about the similarities between the features of medullary thyroid carcinoma (MTC) and intestinal
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Established Facts Distant tumor spread from differentiated thyroid cancer is rare. The most common metastatic sites include bone and lung. Metastases to brain, eye, breast, liver, kidney, muscle, and skin are infrequent
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Neurofibromatosis Expert Team, Maastricht University Medical Centre, Maastricht, The Netherlands
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Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands
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Department of Radiology and Nuclear Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands
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populations without a known predisposition to or diagnosis of thyroid disease who underwent 18 F-FDG PET/computed tomography (CT) as “control” groups: (1) patients with sarcoidosis and (2) patients with early stage lung cancer. We hypothesized that patients
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putative transmembrane domains and both, the N- and the C-terminal domains, are located intracellularly [ 20 , 21 ]. In humans, MCT8 mRNA was found to be highly expressed in liver, kidney, heart, placenta, lung, thyroid as well as in brain and pituitary
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What Is Known about This Topic? • Reported cases of hypertrophic osteoarthropathy (HOA) as a paraneoplastic syndrome associated with thyroid cancer are very rare. We report the first case of an unusual presentation of HOA and follicular
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normalization of serum TSH, T 4 and T 3 concentrations lack sufficient T 3 in discrete brain areas due to a variability/defect in D 2 and/or D 3 pathways or thyroid hormone transport in the brain. Deiodinase Pathways Loss-of-function mutations have
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Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal
Nova Medical School: Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisbon, Portugal
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Established facts Patients with radioactive iodine-refractory differentiated thyroid cancer account for two-thirds of patients with distant metastasis. In the past years, novel targeted therapies directed to specific genes have been
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multiple organs including lungs, bones and liver, and more rarely brain, skin and breast, and are frequently associated with persistent disease in the neck [ 6 ]. In patients with recurrent disease, an acceptable quality of life can usually be maintained
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Introduction Multiple endocrine neoplasia 2A (MEN2A) syndrome is an autosomal dominant disorder that includes medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. MTC is the most common manifestation (90–100%) of MEN2A