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  1 / 230 MEDLINE  
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PMID:29400031
Autor:Gotlib J; Poissonnet G; Bozec A; Ianessi A; Santini J; Dassonville O
Título:[Ectopic thyroid basi-lingual: A case report].
Fuente:Rev Laryngol Otol Rhinol (Bord); 136(3):117-9, 2015.
ISSN:0035-1334
País de publicación:France
Idioma:fre
Resumen:Introduction: The thyroid ectopic gland is a rare anomaly, especially when it's a lingual thyroid. It is characterized by aspecific clinical presentation, causing a diagnostic problem. The diagnosis is based on a combination of imaging techniques as well as histological examination. Case presentation: We are presenting a case of a patient with thyroid basi-lingual treated surgically. Discussion: The low incidence of ectopic lingual thyroid , and their clinical variability requires radiological and isotopic investigations. Conclusion: The diagnosis of this disease is primarily histological. The management of these ectopic thyroid is surgical.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  2 / 230 MEDLINE  
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PMID:29381957
Autor:Ma A; Liu H
Dirección:Peking Union Medical College Hospital, No.1 Shuaifuyuan Wangfujing Dongcheng District, Beijing, China.
Título:Ectopic thyroid of the pancreas: A case report and literature review.
Fuente:Medicine (Baltimore); 96(47):e8707, 2017 Nov.
ISSN:1536-5964
País de publicación:United States
Idioma:eng
Resumen:RATIONALE: Ectopic thyroid is commonly found in the neck region. Intra-abdominal ectopic thyroid is extremely rare, with only 2 cases reported in the pancreatic region. Very few reports have described detailed imaging findings of intra-abdominal ectopic thyroid. PATIENT CONCERNS: A 73-year-old woman with aggravated recurrent right upper quadrant pain was found to have a retroperitoneal mass at the head of pancreas. Abdominal computed tomography (CT) showed a well-defined, high attenuated (56HU) mass measured of 60 × 50 mm in diameter, that exhibited heterogeneous contrast enhancement throughout the 3 phases. DIAGNOSIS: Neuroendocrine neoplasm was suspected. INTERVENTIONS: Following discussions with the patient, she refused fine needle aspiration cytology; however, she underwent total resection of the mass and had an uneventful clinical course. Histopathological examination showed thyroid tissue with TTF-1 and TGB positivity, and BRAF negativity, indicating a benign variant. OUTCOMES: The patient had no signs of relapse with normal thyroid hormone levels after 2 years of follow up. LESSONS: Ectopic thyroid tissue should be considered when patients present with similar imaging findings in abdomen. We review all reported cases of abdominal ectopic thyroid tissue to provide specific evidence for the diagnosis and treatment of this rare entity.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  3 / 230 MEDLINE  
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PMID:29390584
Autor:Wang LJ; Liu CM; Chen X; Zhang L; Zhou HW
Dirección:Department of Radiology, The First Hospital of Jilin University.
Título:An intracardiac accessory thyroid gland mimicking cardiac tumor: A case report and literature review.
Fuente:Medicine (Baltimore); 96(51):e9465, 2017 Dec.
ISSN:1536-5964
País de publicación:United States
Idioma:eng
Resumen:RATIONALE: An accessory thyroid gland (ATG) in the right ventricle is an extremely rare condition. Described herein are histological findings of ATG in the right ventricle found in a patient with a normal cervical thyroid gland. PATIENT CONCERNS: A 53-year-old woman was referred to our hospital after experiencing intermittent precordial pain for 2 years. DIAGNOSES: The mass in the right ventricle was diagnosed pathologically as ATG. INTERVENTIONS: Complete excision was performed because of the patient's intermittent precordial pain and to exclude the possibility of malignancy. OUTCOME: The patient's pain was resolved. No recurrence was observed during the 6-month follow-up. LESSONS: After review and analysis of the case, we found that plain and contrast-enhanced computed tomography scans showed that the mass had a similar intensity and enhancement to a cervical thyroid gland, which we think may be a useful clue for making a preoperative diagnosis of ATG.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE; REVIEW


  4 / 230 MEDLINE  
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PMID:29238947
Autor:Szczepanek-Parulska E; Hernik A; Ruchala M
Título:Thyroid ectopy - diagnostic and therapeutic challenges before and in the era of TSH neonatal screening.
Título:Ektopia tarczycy ­ wyzwania diagnostyczne i terapeutyczne przed wprowadzeniem przesiewowego badania TSH noworodków i po nim..
Fuente:Endokrynol Pol; 68(6):708-721, 2017.
ISSN:2299-8306
País de publicación:Poland
Idioma:eng
Resumen:Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood. Introduction of neonatal screening for congenital hypothyroidism does not guarantee that all patients with thyroid ectopy will be correctly diagnosed and properly treated due to the possibility of falsely negative result of TSH screening or lack of compliance from parents. Visualization of an ectopic thyroid on ultrasound examination may be challenging for unexperienced sonographists; muscles in the thyroid bed may be misdiagnosed as heterogeneous and hypoechogenic thyroid gland with features suggesting autoimmune thyroid disease. Thyroid scintiscan is crucial for confirmation of the diagnosis of thyroid ectopy. In conclusion, hypothyroidism due to thyroid developmental anomaly should be taken into consideration in case of hypothyroidism and normal thyroid autoantibodies in a patient at any age.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE; REVIEW
Nombre de substancia:9002-71-5 (Thyrotropin)


  5 / 230 MEDLINE  
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PMID:28455095
Autor:Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
Dirección:Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China; Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China.
Título:Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Fuente:Clin Chim Acta; 470:36-41, 2017 Jul.
ISSN:1873-3492
País de publicación:Netherlands
Idioma:eng
Resumen:BACKGROUND: The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD). We aimed to identify candidate gene mutations in CH patients with athyreosis and to establish the genotype-phenotype correlations in a Chinese population. METHODS: The exons and flanking sequences of NKX2.1, FOXE1, NKX2.5, PAX8, and TSHR were screened by next-generation sequencing and further confirmed by direct Sanger sequencing. The mutation frequencies were calculated and compared against databases. The relationship between genotype and phenotype was also determined. RESULTS: Seven variants were detected in TSHR-p.P52T, p.G132R, p.M164K, p.R450H, p.C700E, p.A522V, and p.R528S. The p. G132R, p. M164K and p. R528S variants were first identified in public databases. Five variants (p.G44D, p.G360V, p.R401Q, p.L418I, and p.E453Q) were found in NKX2.1 and one variant (p.P243T) was detected in FOXE1. In addition, one variant (p.N291I) was found in NKX2.5 and two variants (p.A355V and c.-26G>A) were detected in PAX8. CONCLUSIONS: Our study indicated that TSHR mutations have phenotypic variability and has further expanded the mutation spectrum of TSHR. We also revealed that the rate of NKX2.1, FOXE1, NKX2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
Nombre de substancia:0 (FOXE1 protein, human); 0 (Forkhead Transcription Factors); 0 (Homeobox Protein Nkx-2.5); 0 (NKX2-1 protein, human); 0 (NKX2-5 protein, human); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Receptors, Thyrotropin); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors)


  6 / 230 MEDLINE  
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PMID:28761619
Autor:Chahed H; Kharrat G; Bechraoui R; Marrakchi J; Mediouni A; Amor MB; Zainine R; Beltaief N; Besbes G
Dirección:Department of Oto-Rhino-Laryngology and Cervico-Facial Surgery of 'Rabta' Hospital Tunisia, Medecine Faculty, El ManarUniversity, Tunisia.
Título:Ectopic thyroid tissue: unusual differential diagnosis of cervical paraganglioma.
Fuente:Pan Afr Med J; 27:43, 2017.
ISSN:1937-8688
País de publicación:Uganda
Idioma:eng
Resumen:Ectopic thyroid tissue (ETT) lateral to the midline is rare. Its occurrence in the carotid bifurcation is exceptional. We present a 45 years woman who consulted with a slow growing right cervical swelling. Clinical examination Ultrasonography, contrast enhanced CT and cervical MRI concluded to a paraganglioma. Intra-operatively, the tumor didn't have the characteristic aspect of a paraganglioma. Complete excision was performed. Histology concluded to an ectopic micro-vesicular thyroid adenoma.Previous literature was reviewed to summarize clinical and radiologic characteristics of such rare entity. Despite its rarity, ETT must be included in the differential diagnosis of cervical paraganglioma.
Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE


  7 / 230 MEDLINE  
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PMID:28666345
Autor:Szczepanek-Parulska E; Zybek-Kocik A; Wartofsky L; Ruchala M
Dirección:Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Título:Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Fuente:J Clin Endocrinol Metab; 102(9):3124-3137, 2017 Sep 01.
ISSN:1945-7197
País de publicación:United States
Idioma:eng
Resumen:Context: Thyroid hemiagenesis (THA) constitutes a rare, congenital disorder that is characterized by an absence of one thyroid lobe. Because the pathogenesis and clinical significance of this malformation remain undefined, specific clinical recommendations are lacking, especially for asymptomatic cases. Evidence Acquisition: The PubMed database was searched (years 1970 to 2017), and the following terms were used to retrieve the results: "thyroid hemiagenesis," "thyroid hemiaplasia," "one thyroid lobe agenesis," and "one thyroid lobe aplasia." Subsequently, reference sections of the retrieved articles were searched. Evidence Synthesis: There is a noticeable susceptibility of subjects with THA to develop additional thyroid and nonthyroidal pathologies. In pathogenesis of concomitant thyroid pathologies, a chronic elevation in thyroid-stimulating hormone values may play an important role. Thus far, genetic studies failed to find a common genetic background of the anomaly, and the potential underlying cause was identified in a minority of the cases. Conclusions: Patients with THA are prone to develop additional thyroid pathologies and theoretically might benefit from l-thyroxine treatment to lower the thyrotropin levels to those observed in the normal population. However, further research should be done to ascertain whether such intervention early in life would prevent development of associated thyroid conditions. At least, increased vigilance should be maintained to reveal all of the concomitant disorders as soon as possible during follow-up examinations. Application of high-throughput technologies enabling a genome-wide search for novel factors involved in thyroid embryogenesis might be the next step to expand the knowledge on THA pathogenesis.
Tipo de publicación:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
Nombre de substancia:0 (DNA-Binding Proteins); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (TTF1 protein, human); 0 (Transcription Factors); EC 3.4.25.1 (Proteasome Endopeptidase Complex); Q51BO43MG4 (Thyroxine)


  8 / 230 MEDLINE  
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PMID:28390009
Autor:Budny B; Szczepanek-Parulska E; Zemojtel T; Szaflarski W; Rydzanicz M; Wesoly J; Handschuh L; Wolinski K; Piatek K; Niedziela M; Ziemnicka K; Figlerowicz M; Zabel M; Ruchala M
Dirección:Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
Título:Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Fuente:Endocrine; 56(2):279-285, 2017 May.
ISSN:1559-0100
País de publicación:United States
Idioma:eng
Resumen:PURPOSE: Human thyroid development is a complex and still unexplained process. Thyroid hemiagenesis is a congenital anomaly, where one of the thyroid lobes fails to develop. In the majority of patients with thyroid hemiagenesis, the genetic background remains unknown. The aim of the study was to search for novel genetic contributors to the etiology of thyroid hemiagenesis. METHODS: A cohort of 34 sporadic patients diagnosed with thyroid hemiagenesis and one three-generation family were subjected to comprehensive genomic examination. Initially, targeted screening of associated transcription factors, known to be linked to thyroid development, was performed. As a next step, genomic examinations were applied using high-resolution microarrays, whereas for the thyroid hemiagenesis family, additionally the whole exome sequencing was performed. RESULTS: Screening of transcription factors revealed no causative mutations in the studied cohort. Genomic examinations revealed the presence of four recurrent defects (three deletions and one duplication) affecting highly conservative proteasome genes PSMA1, PSMA3, and PSMD3. In a thyroid hemiagenesis family a splice site mutation in a proteasome gene PSMD2 (c.612T > C cDNA.1170T > C, g.3271T > C) was found in both affected mother and daughter. CONCLUSIONS: Our results shed a new light on etiology of thyroid hemiagenesis, so far suspected to be linked only to mutations in the genes directly involved in the thyroid development. We demonstrated, for the first time, that genomic alterations in proteasome-associated genes co-occur in patients presenting this developmental anomaly.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (PSMD2 protein, human); 0 (TNF Receptor-Associated Factor 2); EC 3.4.25.1 (PSMA1 protein, human); EC 3.4.25.1 (PSMA3 protein, human); EC 3.4.25.1 (Proteasome Endopeptidase Complex); EC 3.4.25.1 (proteasome activator PA700 subunit p58, human)


  9 / 230 MEDLINE  
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PMID:28025328
Autor:Carré A; Stoupa A; Kariyawasam D; Gueriouz M; Ramond C; Monus T; Léger J; Gaujoux S; Sebag F; Glaser N; Zenaty D; Nitschke P; Bole-Feysot C; Hubert L; Lyonnet S; Scharfmann R; Munnich A; Besmond C; Taylor W; Polak M
Dirección:INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Título:Mutations in BOREALIN cause thyroid dysgenesis.
Fuente:Hum Mol Genet; 26(3):599-610, 2017 Feb 01.
ISSN:1460-2083
País de publicación:England
Idioma:eng
Resumen:Congenital hypothyroidism is the most common neonatal endocrine disorder and is primarily caused by developmental abnormalities otherwise known as thyroid dysgenesis (TD). We performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced a cohort of 134 probands with TD to identify genetic factors predisposing to the disease. We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the BOREALIN gene in TD-affected families. Borealin is a major component of the Chromosomal Passenger Complex (CPC) with well-known functions in mitosis. Further analysis of the missense mutations showed no apparent effects on mitosis. In contrast, expression of the mutants in human thyrocytes resulted in defects in adhesion and migration with corresponding changes in gene expression suggesting others functions for this mitotic protein. These results were well correlated with the same gene expression pattern analysed in the thyroid tissue of the patient with BOREALIN-p.R114W. These studies open new avenues in the genetics of TD in humans.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (CDCA8 protein, human); 0 (Cell Cycle Proteins)


  10 / 230 MEDLINE  
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PMID:27815158
Autor:Gardell AM; von Hippel FA; Adams EM; Dillon DM; Petersen AM; Postlethwait JH; Cresko WA; Buck CL
Dirección:Department of Biological Sciences, University of Alaska Anchorage, Anchorage, AK 99508, USA.
Título:Exogenous iodide ameliorates perchlorate-induced thyroid phenotypes in threespine stickleback.
Fuente:Gen Comp Endocrinol; 243:60-69, 2017 Mar 01.
ISSN:1095-6840
País de publicación:United States
Idioma:eng
Resumen:Perchlorate is a ubiquitous environmental contaminant that has widespread endocrine disrupting effects in vertebrates, including threespine stickleback (Gasterosteus aculeatus). The target of perchlorate is thyroid tissue where it induces changes in the organization, activation, and morphology of thyroid follicles and surrounding tissues. To test the hypothesis that some phenotypes of perchlorate toxicity are not mediated by thyroid hormone, we chronically exposed stickleback beginning at fertilization to perchlorate (10, 30, 100ppm) or control water with and without supplementation of either iodide or thyroxine (T ). Stickleback were sampled across a one-year timespan to identify potential differences in responses to treatment combinations before and after sexual maturation. We found that most thyroid histomorphological phenotypes induced by perchlorate (follicle proliferation, reduced follicle area (adults only), colloid depletion, thyrocyte hypertrophy (subadults only)) were significantly ameliorated by exogenous iodide supplementation. In contrast, treatment with exogenous T did not correct any of the thyroid-specific histopathologies induced by perchlorate. Whole-body thyroid hormone concentrations were not significantly affected by perchlorate exposure; however, supplementation with iodide and T significantly increased T concentrations. This study also revealed an increased erythrocyte area in the thyroid region of perchlorate-exposed adults, while lipid droplet number increased in perchlorate-exposed subadults. Increased erythrocyte area was ameliorated by both iodide and T , while neither supplement was able to correct lipid droplet number. Our finding on lipid droplets indicates that exposure to perchlorate in early development may have obesogenic effects.
Tipo de publicación:JOURNAL ARTICLE
Nombre de substancia:0 (Iodides); 0 (Perchlorates); Q51BO43MG4 (Thyroxine); VLA4NZX2P4 (perchlorate)



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