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1.
Endocrine ; 83(1): 69-76, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38051418

RESUMEN

PURPOSE: Hyperglycemia is associated with abnormalities of lipoproteins. The aim of this study was to analyze, in patients with Type 1 Diabetes (T1D), the association of glycemic control with lipid profile, focusing on glycemic variability and time in range obtained from Continuous Glucose Monitoring (CGM). METHODS: We performed a retrospective cohort in patients with T1D. We analyzed clinical parameters, HbA1c, CGM and lipid profile in two moments 6 to 18 months apart. We evaluated the association of HbA1c and CGM metrics with lipid profile in cross-sectional (n = 242) and longitudinal (n = 90) analyses. RESULTS: The mean age of the study population was 36.6 ± 12.6 years, 51.7% were male, and the mean diabetes duration was 16.8 ± 10.3 years. In the cross-sectional analysis, higher HbA1c, higher glucose management indicator (GMI), higher time above range and lower time in range were associated with higher triglyceride levels. In the longitudinal analysis, an increase in time below range was associated with a decrease of HDL cholesterol. In both analyses, an increase in the coefficient of variability (CV) was associated with a significant decrease of HDL cholesterol. HbA1c and CGM were not associated with total cholesterol or LDL cholesterol. CONCLUSIONS: We observed a negative association between CV and HDL cholesterol levels and a positive association between hyperglycemia metrics and triglyceride levels. These findings suggest that CGM parameters may be a helpful tool to guide the improvement of both glycemic control and lipid profile in T1D.


Asunto(s)
Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Hiperglucemia , Humanos , Masculino , Adulto Joven , Adulto , Persona de Mediana Edad , Femenino , Diabetes Mellitus Tipo 1/complicaciones , Glucemia/análisis , Hemoglobina Glucada , Diabetes Mellitus Tipo 2/complicaciones , Estudios Retrospectivos , Automonitorización de la Glucosa Sanguínea , HDL-Colesterol , Estudios Transversales , Hiperglucemia/complicaciones , Triglicéridos
2.
Diabetol Metab Syndr ; 15(1): 244, 2023 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-38008747

RESUMEN

BACKGROUND/ OBJECTIVE: To evaluate the association of CGM parameters and HbA1c with diabetes complications in patients with Type 1 Diabetes (T1D). METHODS: Patients with T1D using the CGM system Freestyle Libre were included in this analysis. The association of CGM-metrics and HbA1c with diabetes complications (any complication, microvascular complications, or macrovascular complications) was assessed using logistic regression unadjusted and adjusted for age, sex, and diabetes duration (model 1), and further adjusted for hypertension and dyslipidemia (model 2). RESULTS: One hundred and sixty-one patients with T1D were included. The mean (± SD) age was 37.4 ± 13.4 years old and the median T1D duration was 17.7 ± 10.6 years. Time in range (TIR) was associated with any complication and microvascular complications in the unadjusted model and in the adjusted models. TIR was associated with retinopathy in the unadjusted model as well as in model 1, and was associated with macrovascular complications only in the unadjusted model. HbA1c was associated with any complications, microvascular complications, and retinopathy in the unadjusted model but not in the adjusted models. HbA1c was associated with macrovascular complications in the unadjusted model and in the adjusted model 1. CONCLUSIONS: In this cross-sectional analysis of patients with T1D using intermittent scanned CGM, TIR, and HbA1c were associated with complications of diabetes. TIR may be a better predictor than HbA1c of any complication and microvascular complications, while HbA1c may be a better predictor of macrovascular complications.

3.
Eur Thyroid J ; 12(4)2023 07 12.
Artículo en Inglés | MEDLINE | ID: mdl-37235699

RESUMEN

Aim: The prevalence of thyroid nodules and the risk of thyroid cancer in patients with Graves' disease is uncertain. We aimed to evaluate the prevalence of thyroid nodules and cancer in patients with Graves' disease. Methods: Retrospective observational study of adult subjects with Graves' disease (positive autoantibodies thyrotropin receptor antibodies (TRAbs)) between 2017 and 2021 at our center was done. We evaluated the prevalence of thyroid nodules and cancer in this population and characterized the predictive factors for thyroid malignancy using linear and logistic regression models. Results: We evaluated a total of 539 patients with Graves' disease during a median follow-up of 3.3 years (25th-75th percentiles 1.5-5.2 years). Fifty-three percent had thyroid nodules and 18 (3.3%) were diagnosed with thyroid cancer (12 papillary microcarcinomas). All tumors were classified using TNM classification as T1, and only one had lymph node metastasis; there were no recordings of distant metastasis. Sex, age, body mass index, smoking, TSH, and TRAbs levels were not significantly different between patients with and without thyroid cancer. Patients with multiple nodules on ultrasound (OR 1.61, 95%CI 1.04-2.49) and with larger nodules (OR 2.96, 95%CI 1.08-8.14, for 10 mm increase in size) had a greater risk of thyroid cancer diagnosis. Conclusion: Patients with Graves' disease had a high prevalence of thyroid nodules and their nodules had a significant risk of thyroid cancer. The risk was higher in those with multiple and larger nodules. Most had low-grade papillary thyroid cancer. More studies are needed to clarify the clinical relevance of these findings.


Asunto(s)
Enfermedad de Graves , Neoplasias de la Tiroides , Nódulo Tiroideo , Adulto , Humanos , Nódulo Tiroideo/epidemiología , Neoplasias de la Tiroides/epidemiología , Enfermedad de Graves/complicaciones , Cáncer Papilar Tiroideo/epidemiología , Estimulante Tiroideo de Acción Prolongada
4.
Acta Diabetol ; 60(7): 881-889, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36964201

RESUMEN

AIMS: Exercise is an important practice for control in type 1 diabetes (T1D). This study aims to assess de association between exercise and glycemic management in people with T1D and to identify the main barriers to exercise in T1D. METHODS: We evaluated 95 people with T1D treated with insulin pump therapy. Participants answered a questionnaire about 1) exercise habits, 2) usual adjustments in insulin and food intake with exercise and 3) main barriers to exercise. Continuous glucose monitoring (CGM) was used to evaluate time in range (TIR), time below range (TBR) and time above range (TAR) during the last 60 days before the evaluation. CGM data during, before (2 h before) and after (24 h after) the last bout of exercise was also evaluated. RESULTS: The mean age was 30.1 ± 12.1 years, and 51.6% were women. Participants that reported practicing exercise (55.8%) had a higher TIR (59.6 ± 16.3 vs. 48.7 ± 15.7, p = 0.012) and a lower TAR (32.6 ± 15.8 vs. 45.4 ± 17.7, p = 0.006). Comparing with the 60 days CGM data, the TBR was lower in the 2 h before exercise (- 1.8 ± 3.8, p = 0.0454) and TAR was lower during (- 16.9 ± 33.6, p = 0.0320) and in the 24 h after (- 8.7 ± 17.2, p = 0.032) the last bout of exercise. The absence of adjustments on insulin and food intake was associated with higher TBR after the exercise (13.44 ± 3.5, p < 0.05). Eating before the exercise and turning off the pump during the exercise were associated with lower TBR after exercise (food booster: - 7.56 ± 3.49, p < 0.05; turning off insulin pump - 8.87 ± 3.52, p < 0.05). The main barriers reported for exercise practicing were fear of hypoglycemia, lack of free time and work schedule. CONCLUSION: Exercise was associated with better glycemic management in people with T1D. Addressing common barriers may allow a higher adherence to exercise in T1D.


Asunto(s)
Diabetes Mellitus Tipo 1 , Humanos , Femenino , Adolescente , Adulto Joven , Adulto , Masculino , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hipoglucemiantes/uso terapéutico , Estudios Transversales , Glucemia , Automonitorización de la Glucosa Sanguínea , Insulina/uso terapéutico , Ejercicio Físico
5.
Eur Thyroid J ; 12(2)2023 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36622057

RESUMEN

Objective: Previous trials show that selenium could be a very useful tool in the control and treatment of autoimmune thyroid diseases. In this cross-sectional study, through a survey, we aim to evaluate Portuguese endocrinologists' perception and pattern of prescription of selenium supplements in these diseases and verify its agreement with current guidelines. Methods: The endocrinologists registered in the Portuguese Medical Association were sent an email with a web-based questionnaire, regarding their knowledge and use of selenium supplements in thyroid autoimmune pathology. Results: A total of 105 physicians (33% of the total) submitted the survey. The selenium serum concentration in the general population was unknown to 80% of respondents. Over a third of respondents have never prescribed selenium for autoimmune thyroid disease. However, 89% are not afraid of recommending it, and 61% indicate Graves' orbitopathy as the pathology they would supplement. In Hashimoto's thyroiditis, 36% of respondents use selenium occasionally or frequently, and this percentage rises to 60% in Graves' disease. Conclusions: Although recommendations only encompass mild Graves' orbitopathy, selenium is prescribed across the spectrum of autoimmune thyroid diseases, probably due to recent studies that consistently show improvement of biochemical hallmarks in these patients. Further investigation is required on the impact of selenium supplements on primarily clinical outcomes and to identify disorders and/or patients who will benefit the most. Also, there is still insufficient knowledge of this field in the medical community, and evidence-based practice should continue to be promoted by endocrinology societies.


Asunto(s)
Enfermedad de Graves , Oftalmopatía de Graves , Enfermedad de Hashimoto , Selenio , Humanos , Selenio/uso terapéutico , Oftalmopatía de Graves/complicaciones , Estudios Transversales , Enfermedad de Hashimoto/tratamiento farmacológico , Enfermedad de Graves/tratamiento farmacológico , Suplementos Dietéticos , Encuestas y Cuestionarios
6.
Eur Thyroid J ; 11(4)2022 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-35900859

RESUMEN

Objective: To understand whether thyroid cells can be directly infected by the SARS-CoV-2 virus and to establish a putative correlation with the expression of the host entry machinery: ACE-2, TMPRSS2, and furin. Methods: We assessed the presence of SARS-CoV-2 virus at the gene level by RT-PCR, viral RNA transcripts localization by in situ hybridization, and by detecting viral proteins by immunohistochemistry for the nucleocapsid and the spike proteins. Furthermore, we also described the immunoexpression of key host factors for virus entry in the COVID-19 thyroid samples. Results: We performed RT-PCR for SARS-CoV-2 in all autopsy specimens and detected viral genome positivity in 13 of 15 thyroid tissues and in a lung specimen. In 9 of the 14 positive samples, we were also able to confirm SARS-CoV-2 signal by in situ hybridization. Immunohistochemistry for the viral nucleocapsid and spike protein was also positive for ten and nine of the RT-PCR-positive cases, respectively, but revealed a lower sensitivity. We also described, for the first time in a COVID-19 series, the immunohistochemical expression of ACE-2, TMPRSS2, and furin in the thyroid. Conclusions: Our results obtained in thyroid specimens from deceased COVID-19 patients indicate that thyrocytes can be directly infected by SARS-CoV-2 since we detected the presence of SARS-CoV-2 genome in follicular cells. Nevertheless, we did not find a clear correlation between the presence of viral genome and the expression of the host factors for virus entry, namely ACE-2, TMPRSS2, and furin.

7.
Endocrine ; 75(1): 119-128, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34339007

RESUMEN

PURPOSE: Insulin pump therapy has become the preferential treatment for type 1 diabetes (T1D) as it mimics the physiological secretion of insulin better than multiple daily injections. However, not all patients improve with insulin pump therapy. This study aims to determine the predictors of the effectiveness of insulin pumps in T1D. METHODS: We conducted a retrospective observational study of patients who started insulin pumps. Data from four timepoints (before, at 6, 12, and 36 months) were evaluated for outcomes of glycemic control and safety. The association of baseline predictors with outcomes was analyzed using linear and logistic regression models. RESULTS: We evaluated 136 patients (57.4% females, age 36 ± 12 years, duration of T1D 14 ± 9 years). During the follow-up, there was a mean decrease of HbA1c of 0.9 ± 1.2%. The improvement in HbA1c was independent of sex, age, and duration of T1D. Higher baseline HbA1c, family history of diabetes, and not being treated with statins were predictors of improvement in HbA1c. Not being treated with statins and higher baseline HbA1c predicted improvement in HbA1c without worsening hypoglycemia. History of hypoglycemia was a predictor of severe hypoglycemia. Family history, higher baseline HbA1c, and psychological/psychiatric disorders were predictors of ketoacidosis. CONCLUSION: Benefits of insulin pump were independent of sex, age, and duration of T1D. Baseline HbA1c, family history of diabetes, treatment with statins, history of hypoglycemia, and psychological/psychiatric disorders were predictors of outcomes, and may allow the identification of patients who benefit most from insulin pump therapy or who are at increased risk of complications.


Asunto(s)
Diabetes Mellitus Tipo 1 , Adulto , Glucemia , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Hemoglobina Glucada/análisis , Humanos , Hipoglucemiantes , Insulina , Sistemas de Infusión de Insulina , Masculino , Persona de Mediana Edad , Adulto Joven
8.
Case Rep Endocrinol ; 2019: 3196283, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31737376

RESUMEN

INTRODUCTION: Adrenocorticotropic hormone (ACTH) ectopic production is a rare cause of Cushing syndrome (CS). The most commonly associated tumours are small-cell lung carcinoma along with bronchial and thymic carcinoids. To date, only 5 cases have been published in the literature featuring ectopic ACTH secretion from metastatic acinic cell carcinoma (ACC) of the parotid gland. We hereby describe a very uncommon case of ectopic CS (ECS) unveiling a metastatic parotid ACC. CASE PRESENTATION: A 46-year-old man with hypertension and dyslipidemia diagnosed 4-months before, as well as new-onset diabetes mellitus unveiled 1-month earlier, was referred to emergency department for hypokalemia. Hormonal study and dynamic biochemical tests performed indicated ECS. Imaging and cytological findings pointed toward a likely primary right parotid malignancy with liver metastases. Somatostatin receptor scintigraphy has shown an increased uptake in the parotid gland and mild expression in liver metastasis. The patient underwent right parotidectomy, and histopathologic examination confirmed ACC. Meanwhile, hypercortisolism was managed with metyrapone, ketoconazole, and lanreotide. Despite chemotherapy onset, a rapid disease progression and clinical course deterioration was observed. CONCLUSION: The present report highlights a rare ECS, exposing a metastatic parotid ACC, with an aggressive and challenging clinical course, representing the first case whose diagnosis of ECS came prior to ACC.

9.
Thyroid ; 29(9): 1302-1315, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31426718

RESUMEN

Background: Several single-nucleotide polymorphisms (SNPs) are known to increase the risk of Hashimoto's thyroiditis (HT); such SNPs reside in thyroid-specific genes or in genes related to autoimmunity, inflammation, and/or cellular defense to stress. The transcription factor Nrf2, encoded by NFE2L2, is a master regulator of the cellular antioxidant response. This study aimed to evaluate the impact of genetic variation in NFE2L2 on the risk of developing HT. Methods: In a case-control candidate gene association study, functional SNPs in the NFE2L2 promoter (rs35652124, rs6706649, and rs6721961) were examined either as independent risk factors or in combination with a previously characterized HT risk allele (rs28665122) in the gene SELENOS, encoding selenoprotein S (SelS). A total of 997 individuals from the north of Portugal (Porto) were enrolled, comprising 481 HT patients and 516 unrelated healthy controls. SELENOS and NFE2L2 SNPs were genotyped using TaqMan® assays and Sanger sequencing, respectively. Odds ratios (ORs) were calculated using logistic regression, with adjustment for sex and age. Expression of SelS was analyzed by immunohistochemistry in thyroid tissue from HT patients and control subjects. Molecular interactions between the Nrf2 and SelS pathways were investigated in thyroid tissues from mice and in rat PCCL3 thyroid follicular cells. Results: When all three NFE2L2 SNPs were considered together, the presence of one or more minor alleles was associated with a near-significant increased risk (OR = 1.43, p = 0.072). Among subjects harboring only major NFE2L2 alleles, there was no increased HT risk associated with heterozygosity or homozygosity for the SELENOS minor allele. Conversely, in subjects heterozygous or homozygous for the SELENOS risk allele, the presence of an NFE2L2 minor allele significantly increased HT risk by 2.8-fold (p = 0.003). Immunohistochemistry showed reduced expression of SelS in thyroid follicular cells of HT patients. In Nrf2 knockout mice, there was reduced expression of SelS in thyroid follicular cells; conversely, in PCCL3 cells, reducing SelS expression caused reduced activity of Nrf2 signaling. Conclusions: The NFE2L2 promoter genotype interacts with the SELENOS promoter genotype to modulate the risk of HT in a Portuguese population. This interaction may be due to a bidirectional positive feedback between the Nrf2 and SelS pathways.


Asunto(s)
Predisposición Genética a la Enfermedad , Enfermedad de Hashimoto/genética , Proteínas de la Membrana/genética , Factor 2 Relacionado con NF-E2/genética , Polimorfismo de Nucleótido Simple , Selenoproteínas/genética , Animales , Células Cultivadas , Haplotipos , Enfermedad de Hashimoto/etiología , Humanos , Ratones , Ratones Endogámicos C57BL , Regiones Promotoras Genéticas , Riesgo
10.
Diagnostics (Basel) ; 8(4)2018 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-30287753

RESUMEN

Selenium is an essential micronutrient that is required for the synthesis of selenocysteine-containing selenoproteins, processing a wide range of health effects. It is known that the thyroid is one of the tissues that contain more selenium. The "selenostasis" maintenance seems to contribute to the prevention of immune mediated thyroid disorders. Prospective, observational studies, randomized, controlled studies evaluating selenium supplementation, and review articles that are available in Medline and PubMed have undergone scrutiny. The differences concerning methodology and results variability have been analyzed. Several authors support the idea of a potential efficacy of selenium (mainly selenomethionine) supplementation in reducing antithyroperoxidase antibody levels and improve thyroid ultrasound features. In mild Graves' orbitopathy, selenium supplementation has been associated with a decrease of the activity, as well as with quality of life improvement. Future research is necessary to clearly understand the selenium supplementation biologic effects while considering the basal selenium levels/biomarkers, selenoprotein gene polymorphisms that may be involved, underlying comorbidities and the major clinical outcomes.

11.
BMC Res Notes ; 11(1): 249, 2018 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-29685177

RESUMEN

OBJECTIVE: We aimed to characterize hypoglycaemia episodes and patients examined by a Pre-hospital Medical Emergency Unit (PH) and in the Emergency Department (ED) of our hospital. RESULTS: We identified 86 episodes of severe hypoglycaemia (PH: n 37; ED: n 49; both: n 12). Hypoglycaemia accounted for 4.7% of all emergency calls attended by the PH (n 793) and 0.11% of all ED episodes (n 54,366). Among episodes examined by the PH, 64.5% of involved patients had type 2 diabetes and 54.1% were not referred to the ED. Transportation of the patient to the ED was more likely in type 2 diabetes (p = 0.014). Among episodes evaluated in the ED 66.1% of the patients were more than 65 years old and 81.4% had type 2 diabetes. 66% of the patients were insulin treated. One-third of examined patients were admitted to the ward, the majority having type 2 diabetes.


Asunto(s)
Diabetes Mellitus Tipo 2/terapia , Servicios Médicos de Urgencia/estadística & datos numéricos , Servicio de Urgencia en Hospital/estadística & datos numéricos , Hipoglucemia/terapia , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Diabetes Mellitus Tipo 2/complicaciones , Servicios Médicos de Urgencia/economía , Servicio de Urgencia en Hospital/economía , Femenino , Humanos , Hipoglucemia/etiología , Masculino , Persona de Mediana Edad , Adulto Joven
12.
Pituitary ; 18(6): 777-81, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25800168

RESUMEN

PURPOSE: Most pituitary lesions are detected during the investigation of symptoms associated with hormonal dysfunction and vision abnormalities. When the lesion is identified in an image performed for reasons not related to the tumor, the term incidentaloma applies. Our aim was to describe the diagnosis behind pituitary incidentalomas, patient characteristics and their follow up. METHODS: We searched for the terms "pituitary", "hypophysis" and "incidentaloma" in the requisitions and reports of all CTs and MRIs performed between 1st September 2008 and 30th October 2013. We retrieved demographic data as well as information regarding presentation and follow-up. RESULTS: We detected 71 pituitary incidentalomas, 3 in children/adolescents. In adult patients, mean age was 51.6 ± 18.46 years and 42 were female (61.8 %). The most frequent reason for imaging was headache (33.8 %). The image that first detected the incidentaloma was CT scan in 63.2 and 17.6 % patients presented symptoms that could have led to earlier diagnosis. Pituitary adenoma is the most prevalent lesion (n 48; 70.6 %), followed by Rathke's cleft cyst (n 9; 13.2 %). Hormonal evaluation revealed hypopituitarism in 14 patients and hypersecretion in 6: 5 prolactinomas and 1 somatotroph adenoma. Twenty-one (28.8 %) patients underwent surgery and there was no malignancy. CONCLUSIONS: In concordance with available literature, adenomas are the most frequent incidentally found pituitary lesions. Hormonal dysfunction is quite prevalent, including symptomatic presentations, which suggests that there seems to be a low sensitivity for the diagnosis of pituitary disease.


Asunto(s)
Neoplasias Hipofisarias/diagnóstico , Adulto , Anciano , Quistes del Sistema Nervioso Central/diagnóstico , Quistes del Sistema Nervioso Central/diagnóstico por imagen , Femenino , Adenoma Hipofisario Secretor de Hormona del Crecimiento/diagnóstico , Adenoma Hipofisario Secretor de Hormona del Crecimiento/diagnóstico por imagen , Cefalea/diagnóstico , Cefalea/diagnóstico por imagen , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Neoplasias Hipofisarias/diagnóstico por imagen , Prolactinoma/diagnóstico , Prolactinoma/diagnóstico por imagen , Radiografía
13.
PLoS One ; 9(8): e105492, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25127106

RESUMEN

BACKGROUND: Autoimmune thyroid disease (AITD) comprises diseases including Hashimoto's thyroiditis and Graves' disease, both characterized by reactivity to autoantigens causing, respectively, inflammatory destruction and autoimmune stimulation of the thyroid-stimulating hormone receptor. AITD is the most common thyroid disease and the leading form of autoimmune disease in women. Cytokines are key regulators of the immune and inflammatory responses; therefore, genetic variants at cytokine-encoding genes are potential risk factors for AITD. METHODS: Polymorphisms in the IL6-174 G/C (rs1800795), TNFA-308 G/A (rs1800629), IL1B-511 C/T (rs16944), and IFNGR1-56 T/C (rs2234711) genes were assessed in a case-control study comprising 420 Hashimoto's thyroiditis patients, 111 Graves' disease patients and 735 unrelated controls from Portugal. Genetic variants were discriminated by real-time PCR using TaqMan SNP genotyping assays. RESULTS: A significant association was found between the allele A in TNFA-308 G/A and Hashimoto's thyroiditis, both in the dominant (OR = 1.82, CI = 1.37-2.43, p-value = 4.4×10(-5)) and log-additive (OR = 1.64, CI = 1.28-2.10, p-value = 8.2×10(-5)) models. The allele C in IL6-174 G/C is also associated with Hashimoto's thyroiditis, however, only retained significance after multiple testing correction in the log-additive model (OR = 1.28, CI = 1.06-1.54, p-value = 8.9×10(-3)). The group with Graves' disease also registered a higher frequency of the allele A in TNFA-308 G/A compared with controls both in the dominant (OR = 1.85, CI = 1.19-2.87, p-value = 7.0×10(-3)) and log-additive (OR = 1.69, CI = 1.17-2.44, p-value = 6.6×10(-3)) models. The risk for Hashimoto's thyroiditis and Graves' disease increases with the number of risk alleles (OR for two risk alleles is, respectively, 2.27 and 2.59). CONCLUSIONS: This study reports significant associations of genetic variants in TNFA and IL6 with the risk for AITD, highlighting the relevance of polymorphisms in inflammation-related genes in the etiopathogenesis of AITD.


Asunto(s)
Enfermedad de Graves/genética , Enfermedad de Hashimoto/genética , Interleucina-6/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Factores de Riesgo
14.
J Clin Endocrinol Metab ; 99(4): E719-23, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24471570

RESUMEN

CONTEXT: The association between selenium and inflammation and the relevance of selenoproteins in follicular thyroid cell physiology have pointed to a putative role of selenoproteins in the pathogenesis of autoimmune thyroid diseases. OBJECTIVE: The aim of this study was to evaluate the role of a promoter variation in SEPS1, the selenoprotein S gene, in the risk for developing Hashimoto's thyroiditis (HT). DESIGN: A case-control study was performed to assess the association of genetic variation in the SEPS1 gene (SEPS1 -105G/A single-nucleotide polymorphism, rs28665122) and HT. SETTING: The study was conducted in north Portugal, Porto, in the period of 2007-2013. PATIENTS OR OTHER PARTICIPANTS: A total of 997 individuals comprising 481 HT patients and 516 unrelated controls were enrolled in the study. MAIN OUTCOME MEASURES: Genetic variants were discriminated by real-time PCR using TaqMan single-nucleotide polymorphism genotyping assays. RESULTS: There is a significant association between the SEPS1 -105 GA and AA genotypes and HT [odds ratio (OR) 2.24, confidence interval (CI) 1.67-3.02, P < 5.0 × 10(-7), and OR 2.08, CI 1.09-3.97, P = .0268, respectively]. The A allele carriers are in higher proportion in the patient group than in the control population (46.2% vs 28.1%, P < 5.0 × 10(-7)) with an OR (CI) of 2.22 (1.67-2.97). The proportion of patients carrying the A allele is significantly higher in male patients with HT, representing a 3.94 times increased risk (P = 7.9 × 10(-3)). CONCLUSION: Our findings support the existence of a link between SEPS1 promoter genetic variation and HT risk.


Asunto(s)
Predisposición Genética a la Enfermedad , Enfermedad de Hashimoto/genética , Proteínas de la Membrana/genética , Regiones Promotoras Genéticas/genética , Selenoproteínas/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Adulto Joven
15.
Acta Med Port ; 25(6): 454-60, 2012.
Artículo en Portugués | MEDLINE | ID: mdl-23534599

RESUMEN

Hypoglycemia is one of the greatest limitations regarding the treatment of diabetes, as well as one of the most expensive. Its relevance goes beyond the episode itself or the rare sequel. The occurrence of hypoglycemia is frequently followed by treatment adjustments involving the glycemic target, which can result in long term diabetes complications. Its medium and long term consequences are not yet understood in light of recent studies, which have renewed fears regarding an increased cardiovascular risk with its occurrence. Controversy around its definition, as well as serious methodological limitations, led to disparities between the results of the multiple studies of incidence and costs. The low adhesion of a significant number of diabetic patients to glycemic self-monitoring during symptomatic episodes leads to diagnostic uncertainty and, occasionally, to a worsening of the glycemic control. The health-care based studies result in great underestimation of its incidence given the fact that many episodes are mild in nature, and some severe hypoglycemic episodes are treated by the patient's family or friends. Recent studies revealed that a significant number of severe hypoglycemic episodes treated by health-care professionals doesn't involve transportation to an Emergency Department. The same data suggest that the largest portion of the direct and indirect costs of diabetic hypoglycemia is related to the episodes that are treated at the Hospital, particularly if the patient is admitted in the ward. In the past decades a great investment has been made in the development of multiple strategies for the avoidance of hypoglycemia, namely the continuous blood glucose monitoring devices, as well as new drugs. In spite of the efforts, hypoglycemia remains as one of the most important problems in the treatment of diabetes.


Asunto(s)
Complicaciones de la Diabetes/terapia , Hipoglucemia/complicaciones , Hipoglucemia/terapia , Humanos , Índice de Severidad de la Enfermedad
16.
Cutan Ocul Toxicol ; 30(2): 147-53, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21091384

RESUMEN

A 43-year-old female with antiphospholipid syndrome and Graves' disease developed a cutaneous leukocytoclastic vasculitis associated with antineutrophil cytoplasmic antibody (ANCA) against myeloperoxidase (MPO-ANCA) and proteinase-3 (PR3-ANCA), whilst treated with propylthiouracil (PTU). The skin lesions were progressively resolved after withdrawal of PTU and treatment with oral steroids. Patch testing with PTU at 1%, 5%, and 10% in petrolatum was positive at 48 h. Despite positive ANCA titers after 1 year of follow-up, the patient maintains complete clinical remission. PTU is a common antithyroid drug, which has been known to induce ANCA-positive vasculitis. Although most patients with this rare side effect have a good outcome, some fatal cases have been reported. Therefore, patients treated with PTU should be carefully followed and monitored, not only for their thyroid state but also for early detection of potential serious complications of this drug. Early diagnosis and prompt cessation of PTU therapy are essential to improve the outcome. Also key aspects of PTU-induced ANCA-positive vasculitis are reviewed.


Asunto(s)
Anticuerpos Anticitoplasma de Neutrófilos/metabolismo , Antitiroideos/efectos adversos , Propiltiouracilo/efectos adversos , Vasculitis Leucocitoclástica Cutánea/inducido químicamente , Adulto , Antitiroideos/administración & dosificación , Antitiroideos/uso terapéutico , Femenino , Enfermedad de Graves/tratamiento farmacológico , Humanos , Dosificación Letal Mediana , Propiltiouracilo/administración & dosificación , Propiltiouracilo/uso terapéutico , Pruebas Cutáneas , Vasculitis Leucocitoclástica Cutánea/patología
17.
Acta Med Port ; 24(6): 1041-50, 2011.
Artículo en Portugués | MEDLINE | ID: mdl-22713200

RESUMEN

Thyroid associated orbitopathy is a clinical entity with pathogenic mechanisms not fully understood, and appears in about 90% of cases in association with hyperthyroidism of Graves' disease. Its approach involves the recognition of typical features and the exclusion of other diseases in the less common presentations. The treatment is conditioned by the determination of the activity and severity of the disease. The restoration of the euthyroid state and avoiding of hypothyroidism are essential in mitigating the progression of orbitopathy. Glucocorticoid intravenous therapy is the treatment of choice in the active phase and surgical treatment in the inactive phase. Radiotherapy and cyclosporine in combination with corticosteroids are alternatives when monotherapy is insufficient in the active phase. Treatment should be instituted in specialized centers, with ophthalmologists and endocrinologists acting in synergy to avoid consequences of delays in intervention and in optimizing therapy.


Asunto(s)
Enfermedades Orbitales/etiología , Enfermedades de la Tiroides/complicaciones , Árboles de Decisión , Humanos , Enfermedades Orbitales/diagnóstico , Enfermedades Orbitales/terapia , Selección de Paciente , Índice de Severidad de la Enfermedad
18.
Acta Med Port ; 24 Suppl 2: 147-56, 2011 Dec.
Artículo en Portugués | MEDLINE | ID: mdl-22849898

RESUMEN

BACKGROUND: Continuous subcutaneous insulin infusion (CSII) and multiple daily injections (MDI) represent two strategies of intensive insulin therapy, obtaining a strict metabolic control. The importance of such rigorous metabolic control in reducing the frequency and severity of diabetes long-term complications was highlighted by the Diabetes Control and Complication Trial (DCCT). AIM: To review the experience in the use of ISCI at Hospital São João, comparing it with the therapeutic modality of MID, regarding metabolic control, weight and body mass index (BMI), microalbuminuria, frequency of adverse events, lipid profile and quality of life. METHODS: This retrospective, observational study included 25 type 1 diabetic patients followed-up on Endocrinology outpatient at Hospital São João, receiving CSII for more than 3 months after they were treated with MDI also for a period exceeding 3 months. For both periods of treatment, clinical data were obtained on the quality of glycaemic control (assessed by the levels of glycated hemoglobin--A1c), lipid profile, weight and body mass index (BMI) and microalbuminuria. To evaluate the impact on quality of life we used the ADDQoL questionnaire. A questionnaire was also used to determine the frequency of adverse events (severe hypoglycemia and ketoacidosis). RESULTS: The sample of 25 subjects with mean age of 33.35 ± 9.59 years, with a duration of disease, on average, of 17.1 ± 8.15 years and receiving ISCI for an average of 2.48 ± 1 08 years, obtained a decrease of 1.1% (p = 0.001) on the median value of A1c between 3 and 6 months of treatment when compared to MDI, reduction sustained throughout the analyzed period. The variation of the daily insulin requirements after pump placement was 12.75 units of insulin (p = 0.015), equivalent to a decrease of 0.20 units/kg (p = 0.023). The median of the distribution of BMI decreased 0.48 kg/m2 (p = 0.507) during CSII. The parameters of lipid profile and microalbuminuria showed no trend upward or downward after institution of CSII. The score obtained in the ADDQoL questionnaire was greater with CSII, the difference between the medians of the score distribution, before and after pump placement, was 0.056 (p = 0.92). There was a subjective perception of reduced frequency of adverse events with ISCI. CONCLUSION: The introduction of CSII allowed optimization of metabolic control, reduction of the daily insulin requirements and achievement of a higher level of satisfaction with no change in lipid profile, no weight gain and without increasing the frequency of adverse events.


Asunto(s)
Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hipoglucemiantes/administración & dosificación , Insulina/administración & dosificación , Adulto , Femenino , Humanos , Infusiones Subcutáneas , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
19.
Acta Med Port ; 23(1): 63-76, 2010.
Artículo en Portugués | MEDLINE | ID: mdl-20353708

RESUMEN

Cushing's syndrome is a diagnostic challenging endocrinous entity. Many laboratorial examinations are available for the study of these patients. Available examinations are not absolutely trustworthy for its diagnosis, so that, very often, it is necessary to conjúgate informations from different laboratory tests. In this revision one exposes the current evidence and the suggestions of different authors in the laboratorial diagnosis of Cushing's syndrome and the differential diagnosis in patients with biochemical confirmed diagnosis.


Asunto(s)
Síndrome de Cushing/diagnóstico , Ritmo Circadiano , Técnicas de Laboratorio Clínico , Diagnóstico Diferencial , Humanos
20.
Acta Med Port ; 22(5): 599-608, 2009.
Artículo en Portugués | MEDLINE | ID: mdl-19944044

RESUMEN

In the post-partum period the immune alterations are associated with the multiple autoimmune diseases relapse. After birth, immune-tolerance variation slowly disappear, and is observed a return to a normal state - after an exacerbation period - of autoimmune reactivity, during which a great increase in T cells and autoantibodies is observed. In this period - 3 to 9 months after birth - the thyroid autoimmune disease relapses or reappears. The reactivation of the immune system in the post-partum period unchains an acute phase of celular destruction which characterizes the post-partum thyroiditis.


Asunto(s)
Trastornos Puerperales , Tiroiditis , Femenino , Humanos , Trastornos Puerperales/epidemiología , Trastornos Puerperales/etiología , Trastornos Puerperales/fisiopatología , Tiroiditis/epidemiología , Tiroiditis/etiología , Tiroiditis/fisiopatología
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