RESUMO
PURPOSE: The influence of Hashimoto's thyroiditis (HT) on calcitonin (Ct) production is unresolved question. The aim of this study was to explore if basal Ct levels are influenced by the presence/severity of HT or correlated with clinical phenotypes of HT patients. METHODS: We included 467 HT patients and 184 control participants, from Croatian Biobank of HT patients (CROHT), in this retrospective study. Calcitonin levels between HT patients and controls were compared using Mann-Whitney test. Ct levels between two subgroups of HT patients, divided by intake of levothyroxine (LT4) therapy, were additionally tested to take into account the illness severity. Spearman rank correlation test was used to analyze correlations between Ct levels and 14 relevant phenotypes. RESULTS: We have not detected significant differences in median Ct levels between HT patients and controls (2.2 vs 2.35 pg/mL, respectively, P = 0.717) nor in-between two subgroups of HT patients (P = 0.347). We have not detected statistically significant correlations between Ct levels and clinical phenotypes, although we identified three weak nominal correlations: negative correlation of Ct with TgAb in all HT patients (r = - 0.1, P = 0.04); negative correlation of Ct with age in subgroup of HT patients without LT4 therapy (r = - 0.13, P = 0.04); positive correlation of Ct with BSA in subgroup of HT patients on LT4 therapy (r = 0.16, P = 0.042). CONCLUSION: Our results suggest that HT patients of all disease stages preserve Ct production as healthy individuals and there is no need for Ct measurements in the absence of a nodule. Additional confirmation and clarification of observed nominal correlations are needed due to potential clinical relevance of TgAb and age-dependent Ct decrease in HT women.
Assuntos
Autoanticorpos/sangue , Calcitonina , Doença de Hashimoto , Hormônios Tireóideos , Tiroxina/uso terapêutico , Adulto , Fatores Etários , Bancos de Espécimes Biológicos , Variação Biológica da População , Calcitonina/biossíntese , Calcitonina/sangue , Croácia/epidemiologia , Feminino , Doença de Hashimoto/sangue , Doença de Hashimoto/diagnóstico , Doença de Hashimoto/tratamento farmacológico , Doença de Hashimoto/imunologia , Terapia de Reposição Hormonal/métodos , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Hormônios Tireóideos/imunologia , Hormônios Tireóideos/uso terapêuticoRESUMO
PURPOSE: Hashimoto's thyroiditis (HT) is the most common form of autoimmune thyroid diseases. Current knowledge of HT genetics is limited, and not a single genome-wide association study (GWAS) focusing exclusively on HT has been performed to date. In order to decipher genetic determinants of HT, we performed the first GWAS followed by replication in a total of 1443 individuals from Croatia. METHODS: We performed association analysis in a discovery cohort comprising 405 cases and 433 controls. We followed up 13 independent signals (P < 10-5) in 303 cases and 302 controls from two replication cohorts and then meta-analyzed results across discovery and replication datasets. RESULTS: We identified three variants suggestively associated with HT: rs12944194 located 206 kb from SDK2 (P = 1.8 × 10-6), rs75201096 inside GNA14 (P = 2.41 × 10-5) and rs791903 inside IP6K3 (P = 3.16 × 10-5). Genetic risk score (GRS), calculated using risk alleles of these loci, accounted for 4.82% of the total HT variance, and individuals from the top GRS quartile had 2.76 times higher odds for HT than individuals from the lowest GRS quartile. CONCLUSIONS: Although discovered loci are implicated with susceptibility to HT for the first time, genomic regions harboring these loci exhibit good biological candidacy due to involvement in the regulation of the thyroid function and autoimmunity. Additionally, we observe genetic overlap between HT and several related traits, such as hypothyroidism, Graves' disease and TPOAb. Our study adds a new knowledge of underlying HT genetics and sets a firm basis for further research.
Assuntos
Biomarcadores/análise , Estudo de Associação Genômica Ampla , Doença de Hashimoto/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Seguimentos , Predisposição Genética para Doença , Genótipo , Doença de Hashimoto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Adulto JovemRESUMO
PURPOSE: Hashimoto's thyroiditis (HT) as a chronic autoimmune disease of the thyroid gland is the most common cause of hypothyroidism. Since HT and hypothyroidism are closely related, the main aim of this study was to explore the association of established hypothyroidism single-nucleotide polymorphisms (SNPs) with HT. METHODS: The case-control dataset included 200 HT cases and 304 controls. Diagnosis of HT cases was based on clinical examination, measurement of thyroid antibodies (TgAb, TPOAb), hormones (TSH and FT4) and ultrasound examination. We genotyped and analysed 11 known hypothyroidism-associated genetic variants. Case-control association analysis was performed in order to test each SNP for the association with HT using logistic regression model. Additionally, each SNP was tested for the association with thyroid-related quantitative traits (TPOAb levels, TgAb levels and thyroid volume) in HT cases only using linear regression. RESULTS: We identified two genetic variants nominally associated with HT rs3184504 in SH2B3 gene (P = 0.0135, OR = 0.74, 95% CI = 0.57-0.95) and rs4704397 in PDE8B gene (P = 0.0383, OR = 1.32, 95% CI = 1.01-1.74). The SH2B3 genetic variant also showed nominal association with TPOAb levels (P = 0.0163, ß = -0.46) and rs4979402 inside DFNB31 gene was nominally associated with TgAb levels (P = 0.0443, ß = 0.41). CONCLUSIONS: SH2B3 gene has previously been associated with susceptibility to several autoimmune diseases, whereas PDE8B has been associated with TSH levels and suggested to modulate thyroid physiology that may influence the manifestation of thyroid disease. Identified loci are novel and biologically plausible candidates for HT development and represent good basis for further exploration of HT susceptibility.
Assuntos
3',5'-AMP Cíclico Fosfodiesterases/genética , Biomarcadores/metabolismo , Doença de Hashimoto/genética , Hipotireoidismo/genética , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Proteínas Adaptadoras de Transdução de Sinal , Autoanticorpos/sangue , Estudos de Casos e Controles , Seguimentos , Doença de Hashimoto/complicações , Doença de Hashimoto/patologia , Humanos , Hipotireoidismo/etiologia , Hipotireoidismo/patologia , Peptídeos e Proteínas de Sinalização Intracelular , Fenótipo , PrognósticoRESUMO
Some patients with ectopic thyroid gland or athyreotic patients have one or more cysts in empty thyroid bed. The origin of these cysts is uncertain. We present the patient with lingual thyroid gland and small cyst in empty thyroid bed featuring the diagnostic algorithm used and discussing the possible etiologic scenarios.
Assuntos
Coristoma , Cistos , Tireoide Lingual/patologia , Humanos , CintilografiaRESUMO
Baseline levels of cadmium and lead were determined in muscle tissue and liver of hake (Merluccius merluccius) and red mullet (Mullus barbatus), two commercially important fish species from the eastern Adriatic. Concentrations of trace metals in liver (Cd: 6-183 microg kg(-1) w. wt. ; Pb: 39-970 microg kg(-1) w. wt.) were within the range of recently published data for the Mediterranean. In the muscle tissue, cadmium concentrations (4.1-29 microg kg(-1) w. wt.) were among the lowest reported values for the Mediterranean, whereas lead levels (49-158 microg kg(-1) w. wt.) were within the range of values reported for various coastal areas of the Mediterranean. Presented data on cadmium and lead content in the studied fish species provide no proof of the general pollution of the Adriatic. Obtained data were tested in relation to fish length. Metal concentrations in liver decreased with the increase in fish size, whereas no significant correlation was found between trace metal levels in the muscle tissue and the length of both species. Relationships between metal concentrations and sex were also tested, but they gave no significant results. A comparison of contaminant concentrations in the edible tissue of hake and red mullet with the Croatian legislation shows that the consumption of their meat is not harmful for humans, not even for the most endangered population from the coastal region.
Assuntos
Cádmio/análise , Contaminação de Alimentos , Chumbo/análise , Smegmamorpha , Animais , Cádmio/farmacocinética , Feminino , Peixes , Humanos , Chumbo/farmacocinética , Fígado/química , Masculino , Músculo Esquelético/química , Saúde Pública , Valores de Referência , Medição de Risco , Distribuição TecidualRESUMO
Kastela Bay, located on the central part of east Adriatic coast, is heavily contaminated by mercury. The main source of contamination was a chlor-alkali plant, which was operating for 40 years since 1949. Previous studies showed that mercury concentrated in the sediment close to the plant is being dispersed throughout the bay by remobilization processes. Subsequent remobilization of mercury buried in the sediment may be harmful to various marine organisms. In order to assess the availability of remobilised mercury to marine organisms and to assess the health risk of consumption of shellfish species from the bay, a monitoring programme was initiated in September 1997. One thousand six hundred specimens of mussels (Mytilus galloprotincialis) of the same size and age, collected in a very clean area, were transferred to four stations in the bay 1.5 m above the sea bottom. Every month during the summer period and every second month in the winter period, 50 mussels were taken from each station for the analysis of mercury and monomethylmercury (MeHg) content. The results obtained during 1 year of biomonitoring suggest that the equilibrium concentration in transplanted mussels was established in a relative short period of time. The digestive gland is preferential organ for the accumulation of total mercury. Seasonal variation of mercury content both in the whole soft tissue, and organs (gills and digestive gland) was observed at all stations. However, methyl mercury is more concentrated in soft tissues than in digestive gland and gills, despite the fact that it is absorbed through these organs. The mercury levels in tissues were below accepted limits for human consumption. Obtained results showed that the implantation of mussels in an area containing sediment contaminated by mercury may be a good monitoring tool for the assessment of the availability of remobilised mercury to marine organisms.
Assuntos
Bivalves , Monitoramento Ambiental/métodos , Mercúrio/análise , Poluentes Químicos da Água/efeitos adversos , Poluentes Químicos da Água/análise , Animais , Indústria Química , Contaminação de Alimentos , Humanos , Mercúrio/efeitos adversos , Mercúrio/farmacocinética , Saúde Pública , Medição de Risco , Distribuição Tecidual , Poluentes Químicos da Água/farmacocinéticaRESUMO
Rupture of the oesophagus (Boerhaave's syndrome) is a rare complication of forceful or suppressed vomiting. Postoperative nausea and vomiting is common but does not usually lead to life-threatening complications. A case of oesophageal rupture in a man who experienced postoperative nausea and vomiting after an uncomplicated procedure is described in this report. Delayed diagnosis mandated conservative treatment. The clinical presentation, diagnosis and management of oesophageal rupture is discussed.