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5.
Diabetes Res Clin Pract ; 137: 56-63, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29278712

RESUMO

AIMS: To assess safety and benefits of continuous subcutaneous insulin infusion (CSII) therapy in a cohort of type 1 diabetes patients in Spain. METHODS: A web-based national registry was created by the Working Group of the Spanish Diabetes Association. All patients on CSII being followed at selected referral centers were included. A cross-sectional analysis was performed. RESULTS: A total of 1275 patients were included. Data completion for patients on CSII was 67 ±â€¯32%. Indications for treatment were suboptimal glycemic control (32%), high glucose variability (24%), preconception care (14%) and hypoglycemia (11%). In the patients on CSII for ≥1 year (n = 843, mean CSII duration of 5 years), HbA1c decreased by 5 mmol/mol (0.5%) in the whole population and by 8 mmol/mol (0.7%) in subjects with suboptimal glycemic control as CSII indication. Percentage of patients achieving HbA1c ≤ 53 mmol/mol (7%) increased from 20% before CSII to 34% at the end of follow-up. Severe hypoglycemia decreased from 29% to 5%. The rate of discontinuation was 9.5%. HbA1c was lower in patients using bolus advisor and temporary basal rates. CONCLUSIONS: CSII was associated with a sustained improvement in glycemic control and a reduction in severe hypoglycemia. The use of advanced CSII settings was related to better glycemic control.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Sistemas de Infusão de Insulina/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 1/patologia , Feminino , Humanos , Hipoglicemiantes/farmacologia , Masculino , Pessoa de Meia-Idade , Espanha , Inquéritos e Questionários , Adulto Jovem
6.
Rev. esp. cardiol. (Ed. impr.) ; 70(6): 444-450, jun. 2017. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-163301

RESUMO

Introducción y objetivos: Poco se conoce acerca de las características de los sujetos con hipercolesterolemia familiar (HF) menores de 18 años, así como del tratamiento hipolipemiante empleado en estos pacientes y la consecución de objetivos lipídicos en la vida real. Nuestro objetivo es valorar la consecución de objetivos de colesterol unido a lipoproteínas de baja densidad (cLDL) en pacientes con HF menores de 18 años incluidos en un gran registro nacional. Métodos: Se analizó a los pacientes menores de 18 años incluidos en un gran registro en marcha de pacientes con diagnóstico genético de HF en España. Se analizó la consecución de los objetivos recomendados de cLDL en plasma a la inclusión y en el seguimiento en relación con el uso de terapia hipolipemiante. Resultados: Se incluyó a 392 individuos menores de 18 años, de los que 217 obtuvieron diagnóstico genético de HF y seguimiento completo. El tiempo de seguimiento medio fue 4,69 [intervalo intercuartílico, 2,48-6,38] años; el 68,2% de los casos con HF tomaban estatinas y el 41,5% de los pacientes tenían el cLDL < 130 mg/dl. El uso de estatinas fue el único predictor de consecución de objetivos de cLDL. Conclusiones: Este estudio demostró que una alta proporción de pacientes con HF menores de 18 años tenía altas concentraciones de cLDL y no lograron alcanzar los objetivos de cLDL recomendados. El uso de estatinas fue el único predictor independiente asociado a conseguir el objetivo de cLDL recomendado. No se detectó ningún problema de seguridad durante el seguimiento. Estos resultados enfatizan que muchos pacientes con HF no están suficientemente controlados y aún es posible mejorar del tratamiento (AU)


Introduction and objectives: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. Methods: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was analyzed in relation to the use of lipid-lowering therapy. Results: We enrolled 392 individuals younger than 18 years. Of these, 217 were molecularly-diagnosed FH patients and had a complete follow-up. The median follow-up time was 4.69 years (interquartile range, 2.48-6.38 years), 68.2% of FH patients were on statins, and 41.5% patients had LDL-C < 130 mg/dL. Statin use was the only predictor of LDL-C goal attainment. Conclusions: This study shows that a high proportion of FH patients younger than 18 years have high LDL-C levels and fail to achieve recommended LDL-C targets. Statin use was the only independent predictor of LDL-C goal achievement. No safety concerns were detected during follow-up. These results indicate that many FH patients are not adequately controlled and that there is still room for treatment improvement (AU)


Assuntos
Humanos , Criança , Adolescente , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Anticolesterolemiantes/uso terapêutico , Doenças Cardiovasculares/epidemiologia , Arteriosclerose/epidemiologia , Marcadores Genéticos
7.
Endocrinol Diabetes Nutr ; 64 Suppl 1: 23-30, 2017 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28440762

RESUMO

Thyroid nodule detection has increased with widespread use of ultrasound, which is currently the main tool for detection, monitoring, diagnosis and, in some instances, treatment of thyroid nodules. Knowledge of ultrasound and adequate instruction on its use require a position statement by the scientific societies concerned. The working groups on thyroid cancer and ultrasound techniques of the Spanish Society of Endocrinology and Nutrition have promoted this document, based on a thorough analysis of the current literature, the results of multicenter studies and expert consensus, in order to set the requirements for the best use of ultrasound in clinical practice. The objectives include the adequate framework for use of thyroid ultrasound, the technical and legal requirements, the clinical situations in which it is recommended, the levels of knowledge and learning processes, the associated responsibility, and the establishment of a standardized reporting of results and integration into hospital information systems and endocrinology units.


Assuntos
Endocrinologia/organização & administração , Unidades Hospitalares , Doenças da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia , Acreditação/normas , Biópsia por Agulha Fina , Certificação/normas , Curadoria de Dados , Endocrinologia/legislação & jurisprudência , Endocrinologia/métodos , Segurança de Equipamentos/normas , Sistemas de Informação Hospitalar , Unidades Hospitalares/legislação & jurisprudência , Unidades Hospitalares/organização & administração , Unidades Hospitalares/normas , Humanos , Hiperparatireoidismo Primário/diagnóstico por imagem , Registros Médicos , Guias de Prática Clínica como Assunto , Prevalência , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/patologia , Ultrassonografia/instrumentação , Ultrassonografia/métodos , Ultrassonografia/normas
8.
Endocrinol. diabetes nutr. (Ed. impr.) ; 64(supl.1): 23-30, mar. 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-171738

RESUMO

La ecografía se ha convertido en un instrumento imprescindible en la asistencia a los pacientes con enfermedades tiroideas. La detección de los nódulos tiroideos se ha incrementado con el uso generalizado de la misma, siendo la herramienta principal para su detección, orientación diagnóstica, seguimiento y, en ocasiones, también terapéutica. Los Grupos de Trabajo de Cáncer de Tiroides y de Técnicas ecográficas de la Sociedad Española de Endocrinología y Nutrición han promovido este documento en el que se resumen los requisitos necesarios para la mejor práctica clínica posible con esta técnica. Los objetivos del trabajo incluyen encuadrar su utilización dentro de la especialidad, los requisitos técnicos y legales necesarios, las situaciones clínicas de su aplicación, los niveles de conocimiento y aprendizaje, la responsabilidad asociada, la comunicación estandarizada de resultados e integración en los sistemas de información hospitalarios, posicionando la técnica ecográfica dentro de la cartera de servicios en las actuales unidades de Endocrinología y Nutrición (AU)


Thyroid nodule detection has increased with widespread use of ultrasound, which is currently the main tool for detection, monitoring, diagnosis and, in some instances, treatment of thyroid nodules. Knowledge of ultrasound and adequate instruction on its use require a position statement by the scientific societies concerned. The working groups on thyroid cancer and ultrasound techniques of the Spanish Society of Endocrinology and Nutrition have promoted this document, based on a thorough analysis of the current literature, the results of multicenter studies and expert consensus, in order to set the requirements for the best use of ultrasound in clinical practice. The objectives include the adequate framework for use of thyroid ultrasound, the technical and legal requirements, the clinical situations in which it is recommended, the levels of knowledge and learning processes, the associated responsibility, and the establishment of a standardized reporting of results and integration into hospital information systems and endocrinology units (AU)


Assuntos
Humanos , Ultrassonografia , Doenças do Sistema Endócrino/diagnóstico por imagem , Estado Nutricional , Nutrição em Saúde Pública , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Sociedades Médicas/organização & administração , Sociedades Médicas/normas , Assistência à Saúde/organização & administração , Assistência à Saúde/normas , Glândula Tireoide/diagnóstico por imagem
9.
Rev Esp Cardiol (Engl Ed) ; 70(6): 444-450, 2017 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27913073

RESUMO

INTRODUCTION AND OBJECTIVES: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. METHODS: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was analyzed in relation to the use of lipid-lowering therapy. RESULTS: We enrolled 392 individuals younger than 18 years. Of these, 217 were molecularly-diagnosed FH patients and had a complete follow-up. The median follow-up time was 4.69 years (interquartile range, 2.48-6.38 years), 68.2% of FH patients were on statins, and 41.5% patients had LDL-C < 130mg/dL. Statin use was the only predictor of LDL-C goal attainment. CONCLUSIONS: This study shows that a high proportion of FH patients younger than 18 years have high LDL-C levels and fail to achieve recommended LDL-C targets. Statin use was the only independent predictor of LDL-C goal achievement. No safety concerns were detected during follow-up. These results indicate that many FH patients are not adequately controlled and that there is still room for treatment improvement.


Assuntos
Anticolesterolemiantes/uso terapêutico , LDL-Colesterol/sangue , Fidelidade a Diretrizes , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Sistema de Registros , Adolescente , Criança , LDL-Colesterol/efeitos dos fármacos , Feminino , Seguimentos , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/epidemiologia , Incidência , Masculino , Estudos Prospectivos , Espanha/epidemiologia , Resultado do Tratamento
10.
Endocrinol. nutr. (Ed. impr.) ; 63(8): 414-420, oct. 2016. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-156271

RESUMO

Antecedentes y objetivo. No existen datos concluyentes sobre la utilidad de las Unidades de alta resolución de tiroides en el manejo de la patología nodular tiroidea. El objetivo del presente estudio fue evaluar el impacto económico y la satisfacción del usuario tras la puesta en marcha de una consulta de alta resolución de nódulo tiroideo (CARNT) en coordinación con Atención Primaria. Pacientes y método. Estudio prospectivo, observacional y descriptivo en 3.726 pacientes (edad media: 61±12 años; 85% mujeres) evaluados en la CARNT durante los años 2014 y 2015. Se evaluaron datos demográficos (sexo y edad), centro y especialidad de derivación, número de ecografías y punciones aspiración aguja fina ecoguiada (PAAF) de tiroides y tipo de consulta. Resultados. En 2014 y 2015 se realizaron 3.726 ecografías cervicales y 926 PAAF con un 3,8% con resultado de muestra insuficiente. De las 1.227 primeras visitas, el 21,5% fueron altas directas sin revisión de resultados con un ahorro medio estimado de 14.354,55 euros. El 41,1% procedían de Atención Primaria, 33,4% de Endocrinología general y el 26,5% de otras especialidades. La reducción en 2014 y 2015 del número de ecografías solicitadas al Servicio de Radiodiagnóstico frente a 2013 fue de un 65,3 y un 59,7%, respectivamente, con un ahorro medio estimado de 137.563,92 euros. La satisfacción media evaluada por el usuario fue de 4,0 puntos (intervalo de confianza 95%: 3,7-4,3) sobre 5 puntos. Conclusiones. Las CARNT en Endocrinología y en coordinación con Atención Primaria es una alternativa viable, coste-eficiente y con una percepción positiva por parte del usuario (AU)


Background and objective. No conclusive data exist on the value of a high resolution thyroid nodule clinic for management of nodular thyroid disease. The aim of this study was to evaluate the economic impact of and user satisfaction with a high resolution thyroid nodule clinic (HRTNC) in coordination with primary care. Patients and method. A prospective, observational, descriptive study was conducted to analyze data from 3,726 patients (mean age 61±12 years; 85% women) evaluated at an HRTNC during 2014 and 2015. Demographic data (sex and age), number of ultrasound examinations and fine needle aspiration cytologies (FNAC), referral center and consultation type were assessed. Results. In 2014 and 2015, 3,726 neck ultrasound examinations and 926 FNACs (3.8% rated as non-diagnostic) were performed. Among the 1,227 patients evaluated for the first time, 21.5% did not require a second endocrine appointment, which resulted in mean estimated savings of 14,354.55 euros. Of all patients, 41.1% were referred from primary care, 33.4% from endocrinology, and 26.5% from other specialties. As compared to 2013, the number of thyroid ultrasound examinations requested decreased by 65.3% and 59.7% in 2014 and 2015 respectively, with mean estimated savings of 137,563.92 euros. Mean user satisfaction assessed was 4.0 points (95% confidence interval, 3.7-4.3) on a 5-point scale. Conclusions. HRTNCs at endocrinology departments, coordinated with primary care, are a viable, cost-effective alternative with a positive user perception (AU)


Assuntos
Humanos , Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Unidades Hospitalares/organização & administração , Satisfação do Paciente/estatística & dados numéricos , Custos Diretos de Serviços/estatística & dados numéricos
11.
Endocrinol Nutr ; 63(8): 414-20, 2016 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27236635

RESUMO

BACKGROUND AND OBJECTIVE: No conclusive data exist on the value of a high resolution thyroid nodule clinic for management of nodular thyroid disease. The aim of this study was to evaluate the economic impact of and user satisfaction with a high resolution thyroid nodule clinic (HRTNC) in coordination with primary care. PATIENTS AND METHOD: A prospective, observational, descriptive study was conducted to analyze data from 3,726 patients (mean age 61±12 years; 85% women) evaluated at an HRTNC during 2014 and 2015. Demographic data (sex and age), number of ultrasound examinations and fine needle aspiration cytologies (FNAC), referral center and consultation type were assessed. RESULTS: In 2014 and 2015, 3,726 neck ultrasound examinations and 926 FNACs (3.8% rated as non-diagnostic) were performed. Among the 1,227 patients evaluated for the first time, 21.5% did not require a second endocrine appointment, which resulted in mean estimated savings of 14,354.55 euros. Of all patients, 41.1% were referred from primary care, 33.4% from endocrinology, and 26.5% from other specialties. As compared to 2013, the number of thyroid ultrasound examinations requested decreased by 65.3% and 59.7% in 2014 and 2015 respectively, with mean estimated savings of 137,563.92 euros. Mean user satisfaction assessed was 4.0 points (95% confidence interval, 3.7-4.3) on a 5-point scale. CONCLUSIONS: HRTNCs at endocrinology departments, coordinated with primary care, are a viable, cost-effective alternative with a positive user perception.


Assuntos
Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Análise Custo-Benefício , Endocrinologia , Departamentos Hospitalares , Humanos , Satisfação Pessoal , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/economia , Nódulo da Glândula Tireoide/patologia , Ultrassonografia
12.
Endocr Pract ; 22(6): 703-7, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26866705

RESUMO

OBJECTIVE: The effects of normocalcemic hyperparathyroidism (NHPT) on bone remain unclear. The objective of this study was to evaluate differences in the trabecular bone score (TBS) of NHPT patients and asymptomatic hypercalcemic hyperparathyroidism (HHPT) patients. METHODS: We performed a prospective study that enrolled consecutive patients with asymptomatic hyperparathyroidism (NHPT and HHPT) with a follow-up ≥1 year at the University Hospital of Valladolid, Spain. Metabolic phosphocalcium plasma and urine parameters were evaluated in ≥2 determinations during follow-up to classify patients as NHPT patients or asymptomatic HHPT patients. A control group was enrolled during the same period. TBS and bone mineral density (BMD) were evaluated. RESULTS: Thirty-nine patients with asymptomatic HPT (24 with NHPT and 15 with HHPT) and 24 controls were recruited. NHPT patients and HHPT patients had a similar mean age, vitamin D level, TBS, and areal BMD (all sites). Compared to controls, symptomatic HPT patients had significantly higher parathyroid hormone (PTH) and calcium levels and significantly lower TBS and areal BMD at all sites (all P<.05). A significant negative relationship between TBS and PTH was found in asymptomatic HPT patients (r = -0.320, P = .043), which remained significant after adjustment for age, sex, and body mass index. CONCLUSION: There was no difference in the TBS between NHPT and HHPT patients. However, there was a reduction in the TBS of patients with asymptomatic HPT that was related to PTH levels but had no repercussion on bone mass. Higher levels of PTH seem to be responsible for this alteration in microarchitecture texture. ABBREVIATIONS: aBMD = areal bone mineral density BMD = bone mineral density BMI = body mass index DXA = dual-energy X-ray absorptiometry HHPT = hypercalcemic hyperparathyroidism HPT = hyperparathyroidism HR-MRI = high-resolution magnetic resonance HR-pQcT = high-resolution peripheral quantitative computed tomography NHPT = normocalcemic hyper-parathyroidism PTH = parathyroid hormone TBS = trabecular bone score 25vitD = 25-hydroxyvitamin D.

13.
Av. diabetol ; 31(3): 81-88, mayo-jun. 2015. tab
Artigo em Espanhol | IBECS | ID: ibc-140303

RESUMO

En España hay un número creciente de personas con diabetes tipo 1 tratadas con la terapia de infusión subcutánea continua de insulina (ISCI), pero no hay directrices nacionales sobre cómo manejar la terapia con bomba de insulina en el ámbito hospitalario. El Grupo de Nuevas Tecnologías de la Sociedad Española de Diabetes ha revisado la literatura y varias directrices internacionales y propone un documento de consenso sobre el manejo de la terapia con bomba de insulina para los pacientes hospitalizados. El documento contiene recomendaciones sobre las indicaciones, las contraindicaciones y los requisitos necesarios para el mantenimiento de la terapia con ISCI en el hospital. Esta revisión proporciona una guía para el manejo de pacientes ISCI en entornos especiales, tales como la sala de urgencias, cirugía, parto y para pacientes pediátricos. Por último, el grupo propone un conjunto de documentos necesarios para establecer una política ISCI en el hospital. En conclusión, la terapia con ISCI se puede utilizar con seguridad en el hospital en pacientes seleccionados después de haberse implementado un protocolo estandarizado (AU)


There is an increasing number of people with type 1 diabetes treated with continuous subcutaneous insulin infusion therapy (CSII) in Spain, but there are no national guidelines on how to manage insulin pump therapy in the hospital setting. The Group on New Technologies in Diabetes of the Spanish Diabetes Society has reviewed the literature and several international guidelines, and proposes a consensus document on the management of insulin pump therapy for inpatients. The document contains recommendations on indications, contraindications and the requirements needed to maintaining CSII therapy. This review provides a guide for the management of CSII patients in special settings such as the emergency room, surgery, delivery, and for pediatric patients. Finally, the group proposes a set of documents needed to establish a CSII policy in the hospital. In conclusion, CSII therapy can safely be used in the hospital in selected patients after the implementation of a standardized protocol (AU)


Assuntos
Feminino , Humanos , Masculino , Sistemas de Infusão de Insulina/classificação , Sistemas de Infusão de Insulina/provisão & distribução , Infusões Subcutâneas/métodos , Infusões Subcutâneas/enfermagem , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/genética , Terapêutica/enfermagem , Terapêutica/normas , Espanha/etnologia , Sistemas de Infusão de Insulina/normas , Sistemas de Infusão de Insulina , Infusões Subcutâneas/psicologia , Infusões Subcutâneas/tendências , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/patologia , Terapêutica/instrumentação , Terapêutica/métodos
15.
J Diabetes Complications ; 29(4): 595-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25825013

RESUMO

BACKGROUND: A polymorphism of GLP-1 R (rs6923761) has potential implications in weight loss and metabolic control. We decide to investigate the role of this polymorphism on metabolic changes and weight loss secondary to treatment with liraglutide. MATERIAL AND METHODS: A population of 90 patients with diabetes mellitus type 2 and overweight, unable to achieve glycemic control (HbA1c>7%) with metformin alone that require initiation of liraglutide treatment in progressive dose to 1.8mg/day subcutaneously, was analyzed. RESULTS: Fifty one patients (56.7%) had the genotype GG and 39 (43.3%) patients; GA (30 patients, 33.3%) or AA (9 patients, 10%) (A allele carriers). In patients with both genotypes, body mass index (BMI), weight and fat decreased. The proportion of the mentioned reductions was higher in the variant allele carriers; BMI (-0.59±2.5kg/m(2) vs. -1.69±3.9kg/m(2); P<0.05), weight (-2.78±2.8kg vs. -4.52±4.6kg; P<0.05) and fat mass (-0.59±2.5kg vs. -1.69±3.9kg; P<0.05). Weight reduction after liraglutide treatment was greater in the A-allele carriers by 2.9kg (95% CI: 0.27-5.64). The decrease of basal glucose, HOMA-R and HbA1c was similar in both genotypes. CONCLUSION: Our data showed better anthropometric parameters in overweight diabetic subjects with the variant allele (A) of rs6923761 GLP-1 R polymorphism. A allele carriers had a greater decrease in weight and fat mass after treatment with liraglutide. The present study is a preliminary observation, and its results need to be replicated with a higher number of patients in different populations.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Receptor do Peptídeo Semelhante ao Glucagon 1/genética , Liraglutida/uso terapêutico , Sobrepeso/tratamento farmacológico , Polimorfismo de Nucleotídeo Único , Perda de Peso/efeitos dos fármacos , Idoso , Glicemia/efeitos dos fármacos , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Feminino , Hemoglobina A Glicada/metabolismo , Humanos , Liraglutida/administração & dosagem , Masculino , Metformina/administração & dosagem , Pessoa de Meia-Idade , Obesidade/complicações , Obesidade/tratamento farmacológico , Obesidade/genética , Obesidade/metabolismo , Sobrepeso/complicações , Sobrepeso/genética , Sobrepeso/metabolismo , Perda de Peso/genética
17.
J Investig Med ; 62(8): 968-74, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25361053

RESUMO

PURPOSE: Type 2 diabetes mellitus (type 2 DM) and maturity-onset diabetes of the young present some similar clinical and biochemical characteristics that make them difficult to differentiate. Currently, the polymorphism T130I (rs1800961) in the HNF4A (hepatocyte nuclear factor 4A) gene has been described as a risk factor to type 2 DM and shows an autosomal dominant inheritance pattern associated to ß-cell function decrease. The aim of the present work was to characterize the phenotypic profile of the T130I carrier and noncarrier relatives included in 3 unrelated families. METHODS: We studied GCK, HNF1A, and HNF4A genes by polymerase chain reaction and sequencing in 3 unrelated subjects from Valladolid, Spain, in which maturity-onset diabetes of the young was suspected. We collected genetic, clinical, and biochemical data from these subjects and their relatives in order to check the presence of the T130I polymorphism. RESULTS: The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. We observed significant differences in glucose metabolism, lipid profile, and Homeostasis Model Assessment index when we compared T130I mutation carriers and noncarriers. Diabetes diagnosed in T130I mutation carriers was related to stressful situations in an earlier age and tightly associated with gestational diabetes. Fasting plasma glucose and HbA(1c) levels increased with age in all carriers (r = 0.69 and r = 0.66, P < 0.01), respectively. CONCLUSIONS: Our study supports the T130I variant in HNF4A as a major susceptibility genotype associated with early-onset type 2 DM. Healthy carriers of this mutation require a stricter control in the population of central Spain.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Fator 4 Nuclear de Hepatócito/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Idade de Início , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/sangue , Família , Feminino , Hemoglobina A Glicada/metabolismo , Heterozigoto , Humanos , Masculino , Mutação/genética , Linhagem , Espanha
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