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1.
Sci Rep ; 11(1): 16453, 2021 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-34385479

RESUMO

Our aim was to evaluate whether fatty liver index (FLI) is associated with the risk of type 2 diabetes (T2DM) development within the Spanish adult population and according to their prediabetes status; additionally, to examine its incremental predictive value regarding traditional risk factors. A total of 2260 subjects (Prediabetes: 641 subjects, normoglycemia: 1619 subjects) from the Di@bet.es cohort study were studied. Socio-demographic, anthropometric, clinical data and survey on habits were recorded. An oral glucose tolerance test was performed and fasting determinations of glucose, lipids and insulin were made. FLI was calculated and classified into three categories: Low (< 30), intermediate (30-60) and high (> 60). In total, 143 people developed diabetes at follow-up. The presence of a high FLI category was in all cases a significant independent risk factor for the development of diabetes. The inclusion of FLI categories in prediction models based on different conventional T2DM risk factors significantly increase the prediction power of the models when all the population was considered. According to our results, FLI might be considered an early indicator of T2DM development even under normoglycemic condition. The data also suggest that FLI could provide additional information for the prediction of T2DM in models based on conventional risk factors.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus Tipo 2/complicações , Hepatopatia Gordurosa não Alcoólica/complicações , Adulto , Biomarcadores/metabolismo , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
2.
Sci Rep ; 10(1): 2765, 2020 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-32066839

RESUMO

Our aim was to determine the incidence of type 2 diabetes mellitus in a nation-wide population based cohort from Spain (di@bet.es study). The target was the Spanish population. In total 5072 people older than 18 years,were randomly selected from all over Spain). Socio-demographic and clinical data, survey on habits (physical activity and food consumption) and weight, height, waist, hip and blood pressure were recorder. A fasting blood draw and an oral glucose tolerance test were performed. Determinations of serum glucose were made. In the follow-up the same variables were collected and HbA1c was determined. A total of 2408 subjects participated in the follow-up. In total, 154 people developed diabetes (6.4% cumulative incidence in 7.5 years of follow-up). The incidence of diabetes adjusted for the structure of age and sex of the Spanish population was 11.6 cases/1000 person-years (IC95% = 11.1-12.1). The incidence of known diabetes was 3.7 cases/1000 person-years (IC95% = 2.8-4.6). The main risk factors for developing diabetes were the presence of prediabetes in cross-sectional study, age, male sex, obesity, central obesity, increase in weight, and family history of diabetes. This work provides data about population-based incidence rates of diabetes and associated risk factors in a nation-wide cohort of Spanish population.


Assuntos
Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Obesidade/epidemiologia , Adulto , Idoso , Glicemia , Pressão Sanguínea , Peso Corporal , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/patologia , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/patologia , Jejum , Feminino , Teste de Tolerância a Glucose , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/complicações , Obesidade/patologia , Fatores de Risco , Espanha/epidemiologia
3.
J Endocrinol Invest ; 42(8): 941-949, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30707410

RESUMO

OBJECTIVE: Thyroid hormone resistance (RTH ß) is a rare genetic disorder characterized by an altered response of target tissue to the action of thyroid hormone. Few studies on RTH ß have been carried out in southern European populations. We aimed to describe the clinical and genetic characteristics at the time of diagnosis in a Spanish cohort of patients with genetically confirmed RTH ß, with ages ranging from newborns to adults. METHODS: Retrospective multicenter study of 28 patients who were genetically confirmed as RTH ß. Clinical and biochemical data were collected from the reference centers, and the studied variables included age, sex, anthropometric data, clinical characteristics and biochemical results. In the Basque country, a simultaneous analysis of TSH and T4 is carried out in the program for the screening of inborn errors of metabolism. A molecular analysis of the thyroid hormone beta (THRB) gene was performed. RESULTS: The total cohort included 20 adults and eight pediatric patients (six newborns). Of the total, 5 (17.8%) were diagnosed by clinical characteristics (goiter, hypertension or tachycardia), 13 (46.4%) were analyzed in the context of a family study and 10 (35.7%) were diagnosed after obtaining an altered fT4 and/or TSH level in a biochemical analysis performed due to clinical symptoms unrelated to RTH ß. Four of the newborns included in the series were diagnosed by the result of neonatal screening, which allows us to estimate a minimum local incidence of RTH ß of 1/18,750 live newborns. The genetic analysis showed the presence of 12 different heterozygous mutations in the THRB gene. CONCLUSIONS: We report the clinical and genetic characteristics of a Spanish RTH ß cohort, from neonates to adults. We also describe one novel mutation in the THRB gene as the cause of the disease. The simultaneous analysis of TSH and T4 carried out in the program for the screening of inborn errors of metabolism facilitates the early diagnosis of RTH ß in newborns and has allowed us to estimate a minimum local incidence of RTH of 1/18,750 live newborns.


Assuntos
Biomarcadores/análise , Resistência a Medicamentos/genética , Mutação , Receptores beta dos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico , Hormônios Tireóideos/efeitos adversos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Espanha/epidemiologia , Síndrome da Resistência aos Hormônios Tireóideos/induzido quimicamente , Síndrome da Resistência aos Hormônios Tireóideos/epidemiologia , Síndrome da Resistência aos Hormônios Tireóideos/genética , Adulto Jovem
4.
Artigo em Inglês | MEDLINE | ID: mdl-29899992

RESUMO

Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results. LEARNING POINTS: Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.Treatment has been well tolerated and no side effects have been detected.

5.
Gene ; 651: 44-48, 2018 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-29408271

RESUMO

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance, an early clinical onset and a primary defect in ß-cell function. Mutations in the GCK and HNF1A genes are the most common cause of MODY among Caucasians. The etiology of MODY in Tunisia stills a challenge for researchers. The aim of this study was to screen for mutations in GCK, HNF1A, HNF4A and INS genes in North African Tunisians subjects, in whom the clinical profile was very suggestive of MODY. A total of 23 unrelated patients, with clinical presentation of MODY were tested for mutations in GCK, HNF1A, HNF4A and INS genes, using Denaturing High Performance Liquid Chromatography (DHPLC), Multiplex Ligation-depend Probe Amplification (MLPA) and sequencing analysis. We identified the previously reported mutation c-169C > T in one patient as well as a new mutation c-457C > T in two unrelated patients. No mutations were detected in the HNF1A and INS genes. Despite restrictive clinical criteria used for selecting patients in this study, the most common genes known for MODY do not explain the majority of cases in Tunisians. This suggests that there are others candidate or unidentified genes contributing to the etiology of MODY in Tunisians families.


Assuntos
Diabetes Mellitus Tipo 2/genética , Glucoquinase/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Mutação , Adulto , Feminino , Frequência do Gene , Quinases do Centro Germinativo , Fator 4 Nuclear de Hepatócito/genética , Humanos , Masculino , Polimorfismo Genético , Regiões Promotoras Genéticas , Proteínas Serina-Treonina Quinases , Tunísia , Adulto Jovem
6.
Diabet Med ; 34(5): 662-666, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27353285

RESUMO

AIMS: To assess the prevalence of diabetes mellitus and impaired glucose metabolism in the Basque Country and their relationship with cardiovascular risk factors. METHODS: A population-based, cross-sectional, cluster sampling design study was carried out in an adult (≥18 years) Basque population. A total of 847 participants completed a questionnaire on personal and family medical history and lifestyle. Anthropometric variables and blood pressure were measured and biochemical analysis and an oral glucose tolerance test (75 g) were also performed. RESULTS: The total prevalence of diabetes was 10.6% (95% CI 8.65-12.95). Among them 6.3% (95% CI 4.79-8.22) had previously been diagnosed and 4.3% (95% CI 3.04-5.92) were not aware that they had diabetes. Impaired glucose tolerance was present in 7.2% (95% CI 5.53-9.15) and impaired fasting glucose in 3.8% (95% CI 2.64-5.37) of the population. In total, 21.6% of the population had some type of glucose metabolism disturbance, with a higher rate among men (28.3 vs 16.3%; P<0.001) and with the rate increasing with age. Risk factors independently associated with the development of diabetes were: male sex [odds ratio 4.58 (95% CI 2.34-8.97)]; abdominal obesity [odds ratio 2.80 (95% CI 1.47-5.36)]; high triglyceride levels [odds ratio 2.46 (95% CI 1.26-4.81)]; hypertension [odds ratio 2.40 (95% CI 1.16-4.96)]; family history of diabetes [odds ratio 2.30 (95% CI 1.25-4.24)]; high LDL cholesterol levels [odds ratio 1.83 (95% CI 1.01-3.31)] and older age [odds ratio 1.08 (95% CI 1.05-1.10)]. CONCLUSIONS: The prevalence of diabetes in the Basque Country was lower than in Spain and was independently associated with family history of diabetes and with cardiovascular risk factors such as abdominal obesity, hypertension, high LDL cholesterol levels and high triglyceride levels, which were also observed in those with prediabetes.


Assuntos
Diabetes Mellitus/epidemiologia , Intolerância à Glucose/epidemiologia , Adulto , Idoso , Doenças Cardiovasculares/epidemiologia , Estudos Transversais , Diabetes Mellitus/sangue , Feminino , Intolerância à Glucose/sangue , Teste de Tolerância a Glucose , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade Abdominal/epidemiologia , Estado Pré-Diabético/epidemiologia , Prevalência , Fatores de Risco , Espanha/epidemiologia
7.
Artigo em Inglês | MEDLINE | ID: mdl-27804851

RESUMO

BACKGROUND: Studies in adults show that central obesity increases the likelihood of Type 2 diabetes (T2DM). OBJECTIVE: To determine the association between waist circumference (WC) and non-traditional risk factors such as magnesium (Mg), phosphorus, and uric acid in indigenous children living at high altitudes. METHODS: A total of 354 (166 M) indigenous school children, aged 9.6 + 2.3 years, were enrolled in a cross-sectional study in November 2011. Central obesity was defined as WC > 90th percentile according to age and sex. Low Mg and phosphorus levels were defined as serum Mg <1.8 mg/dL and phosphorus <2.4 mg/dL . Hyperuricemia was defined as serum uric acid > 7 mg/dL. RESULTS: The prevalence of central obesity was 6.8% (24/354). None of the children had hyperuricemia or low P levels. HypoMg was identified in 21.7% (57/263). There was a significant association between WC (z-score) and Mg (r-015), uric acid (r0.28), phosphorus (r-0.30), HOMA-IR (r0.49), Triglycerides (r0.24), and HDL-C (r0.24). However, calcium, sodium, and potassium were not significantly associated with WC. As z-WC quartiles increased Mg and phosphorus levels significantly decreased, whereas uric acid levels increased. Multiple linear regression analysis showed that z-WC was associated significantly and directly with uric acid (B0.31), triglycerides (B0.004), and HOMA-IR (B0.35); and inversely with Mg (B-0.83) and phosphorus (B-0.25), adjusted for confounding variables (R2 0.34). CONCLUSION: Our results indicate that central obesity was significantly and inversely associated with Mg and phosphorus and directly with uric acid in indigenous school children. Supplementation with Mg and/or phosphorus could prevent future cardiovascular disease. Prospective and randomized studies should be performed to confirm these findings.

8.
Eur J Endocrinol ; 174(6): 717-26, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27188453

RESUMO

CONTEXT: Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic ß-cells. OBJECTIVE: To characterize clinically and genetically CHI patients in Spain. DESIGN AND METHODS: We included 50 patients with CHI from Spain. Clinical information was provided by the referring clinicians. Mutational analysis was carried out for KCNJ11, ABCC8, and GCK genes. The GLUD1, HNF4A, HNF1A, UCP2, and HADH genes were sequenced depending on the clinical phenotype. RESULTS: We identified the genetic etiology in 28 of the 50 CHI patients tested: 21 had a mutation in KATP channel genes (42%), three in GLUD1 (6%), and four in GCK (8%). Most mutations were found in ABCC8 (20/50). Half of these patients (10/20) were homozygous or compound heterozygous, with nine being unresponsive to diazoxide treatment. The other half had heterozygous mutations in ABCC8, six of them being unresponsive to diazoxide treatment and four being responsive to diazoxide treatment. We identified 22 different mutations in the KATP channel genes, of which ten were novel. Notably, patients with ABCC8 mutations were diagnosed earlier, with lower blood glucose levels and required higher doses of diazoxide than those without a genetic diagnosis. CONCLUSIONS: Genetic analysis revealed mutations in 56% of the CHI patients. ABCC8 mutations are the most frequent cause of CHI in Spain. We found ten novel mutations in the KATP channel genes. The genetic diagnosis is more likely to be achieved in patients with onset within the first week of life and in those who fail to respond to diazoxide treatment.


Assuntos
Hiperinsulinismo Congênito/diagnóstico , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Proteínas Serina-Treonina Quinases/genética , Receptores de Sulfonilureias/genética , Pré-Escolar , Hiperinsulinismo Congênito/genética , Análise Mutacional de DNA , Feminino , Quinases do Centro Germinativo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Espanha
11.
J Endocrinol Invest ; 37(2): 143-8, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24497213

RESUMO

BACKGROUND: Traumatic brain injury (TBI) is a common event in childhood. It is a recognised cause of hypopituitarism both in adult and paediatric patients. Routine endocrine evaluation has been proposed for adult TBI-survivors; nevertheless, incongruous data have been reported in children. AIM: The goal of this study was to describe the prevalence of pituitary dysfunction after TBI in a cohort of children. MATERIAL/SUBJECTS AND METHODS: This is a cross-sectional study comprising retrospective medical record review and prospective testing. Children with brain injury discharged from the Paediatric Intensive Care Unit from year 2004 to 2009 were recruited. Height and weight were recorded, systemic examination was performed and baseline pituitary function tests were undertaken. Provocative tests were performed only if abnormal basal levels were detected. RESULTS: Thirty-six patients were collected; the mean age at assessment was 7.2 years and the mean interval since injury 3.3 years. All patients had skull fracture or intracranial haemorrhage; 36.6 % of them had moderate to severe TBI. No abnormalities were found on examination. Low serum IGF 1 levels were detected in four patients and two patients had low serum cortisol levels with inappropriately normal plasma ACTH concentrations. No evidence of pituitary dysfunction was observed in these patients after clinical follow-up, repeated baseline hormone levels or dynamic function tests. CONCLUSIONS: No endocrine sequelae have been detected in this population. The routine endocrine evaluation in children with mild to moderate TBI might not be justified, according to our findings.


Assuntos
Lesões Encefálicas/complicações , Lesões Encefálicas/diagnóstico , Técnicas de Diagnóstico Endócrino , Testes Diagnósticos de Rotina , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Adolescente , Lesões Encefálicas/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Hipopituitarismo/epidemiologia , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos
12.
Ann Nutr Metab ; 62(4): 339-46, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23838479

RESUMO

BACKGROUND AND AIMS: Mediterranean diet (MedDiet) is causally related to diabetes and is a dietary pattern recommended to individuals with diabetes. We investigated MedDiet adherence in individuals with prediabetes and unknown (PREDM/UKDM) or known diabetes (KDM) compared to those with normal glucose metabolism (NORMAL). METHODS: This was a national, population-based, cross-sectional, cluster-sampling study. MedDiet adherence was scored (MedScore, mean ± SD 24 ± 5) using a qualitative food frequency questionnaire. Logistic regression was used to examine the association between MedScore and PREDM/UKDM or KDM versus control subjects. RESULTS: We evaluated 5,076 individuals. Mean age was 50 years, 57% were female, 826 (582/244) were PREDM/UKDM, 478 were KDM and 3,772 were NORMAL. Mean age increased across MedScore tertiles (46, 51 and 56 years, p < 0.0001). Higher age-adjusted adherence to MedDiet (5-unit increment in the MedScore) was associated with lower and nondifferent odds (OR, 95% CI) of prevalent PREDM/UKDM (0.88, 0.81-0.96, p = 0.001) and KDM (0.97, 0.87-1.07, p = 0.279), respectively, compared to individuals in the NORMAL group. CONCLUSIONS: In a representative sample of the whole Spanish population, MedDiet adherence is independently associated with PREDM/UKDM. Therapeutic intervention may be, in part, responsible for the lack of differences in adherence observed between the KDM and NORMAL groups. However, reverse causation bias cannot be ruled out in cross-sectional studies.


Assuntos
Glicemia/análise , Diabetes Mellitus/epidemiologia , Dieta Mediterrânea , Cooperação do Paciente , Estado Pré-Diabético/epidemiologia , Adulto , Idoso , Análise de Variância , Estudos de Casos e Controles , Estudos Transversais , Inquéritos sobre Dietas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Espanha/epidemiologia
13.
Eur J Clin Nutr ; 67(9): 911-6, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23859999

RESUMO

BACKGROUND: Despite the marked increase in cardiovascular risk factors in Spain in recent years, the prevalence and incidence of cardiovascular diseases have not risen as expected. Our objective is to examine the association between consumption of olive oil and the presence of cardiometabolic risk factors in the context of a large study representative of the Spanish population. SUBJECTS AND METHODS: A population-based, cross-sectional, cluster sampling study was conducted. The target population was the whole Spanish population. A total of 4572 individuals aged ≥ 18 years in 100 clusters (health centers) were randomly selected with a probability proportional to population size. The main outcome measures were clinical and demographic structured survey, lifestyle survey, physical examination (weight, height, body mass index, waist, hip and blood pressure) and oral glucose tolerance test (OGTT) (75 g). RESULTS: Around 90% of the Spanish population use olive oil, at least for dressing, and slightly fewer for cooking or frying. The preference for olive oil is related to age, educational level, alcohol intake, body mass index and serum glucose, insulin and lipids. People who consume olive oil (vs sunflower oil) had a lower risk of obesity (odds ratio (OR)=0.62 (95% confidence interval (CI)=0.41-0.93, P=0.02)), impaired glucose regulation (OR=0.49 (95% CI=0.28-0.86, P=0.04)), hypertriglyceridemia (OR=0.53 (95% CI=0.33-0.84, P=0.03)) and low HDL cholesterol levels (OR=0.40 (95% CI=0.26-0.59, P=0.0001)). CONCLUSIONS: The results show that consumption of olive oil has a beneficial effect on different cardiovascular risk factors, particularly in the presence of obesity, impaired glucose tolerance or a sedentary lifestyle.


Assuntos
Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/prevenção & controle , Intolerância à Glucose/sangue , Intolerância à Glucose/dietoterapia , Óleos de Plantas/administração & dosagem , Adulto , Idoso , Glicemia/metabolismo , Pressão Sanguínea , Índice de Massa Corporal , Peso Corporal , Doenças Cardiovasculares/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Análise por Conglomerados , Estudos Transversais , Feminino , Teste de Tolerância a Glucose , Humanos , Hipertrigliceridemia/sangue , Hipertrigliceridemia/prevenção & controle , Insulina/sangue , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/prevenção & controle , Razão de Chances , Azeite de Oliva , Prevalência , Fatores de Risco , Comportamento Sedentário , Espanha/epidemiologia , Óleo de Girassol , Triglicerídeos/sangue
15.
Minerva Endocrinol ; 38(1): 17-28, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23435440

RESUMO

Multiple endocrine neoplasia type 1 (MEN1; formerly known as Wermer syndrome) is a rare disorder characterized by the combined occurrence of two or more tumors involving parathyroid, pancreatic islets and anterior pituitary glands; some other tumors have also been described. In most cases it is inherited in an autosomic dominant manner but it may occur sporadically. The MEN1 gene (MEN1) is located on chromosome 11q13, it is composed of ten exons that encode a 610 amino acid protein called menin. Menin, with no homology to any other known protein, interacts with several different proteins and plays an important role in regulation of cell growth, cell cycle, genome stability and synapse plasticity. Familiar MEN1 has a high degree of penetrance with clinical or biochemical manifestations of the disease in 80% and 98%, respectively, by the fifth decade. Clinical manifestations are related to tumor localizations and their secretory products. Hyperparathyroidism is the most common feature of MEN1 (95% of patients), pancreatic islet tumors or pancreatic NET (neuroendocrine tumor) occur in 40-70% and pituitary tumors in 30-40% of MEN 1 patients. In addition, other tumors, such as adrenal cortical tumors, carcinoid tumors, lipomas, angiofibromas, colagenomas and meningiomas may be present. Occurrence of de novo mutations appear in 10% of all patients with MEN1. A correlation between genotype and phenotype has not been found and, even more, combinations of these tumors may be different in members of the same family. Untreated patients have a decreased life expectancy, with a 50% probability of death by the age of 50 years and the cause of death is mostly directly related to MEN1, being the most important causes malignant pancreatic neuroendocrine tumors (NET) and thymic carcinoids. Treatment for each type of endocrine tumor is generally similar as in non-MEN1 associated tumors, but results are less successful according to multiplicity of tumors, higher metastatic disease, larger and more aggressive tumors and more resistant to treatment. The prognosis might improve by preclinical tumor diagnosis and appropriated treatment.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Biomarcadores/metabolismo , Diagnóstico Precoce , Éxons , Genótipo , Humanos , Neoplasia Endócrina Múltipla Tipo 1/epidemiologia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/terapia , Mutação , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/terapia , Neoplasias das Paratireoides/epidemiologia , Neoplasias das Paratireoides/genética , Neoplasias das Paratireoides/terapia , Fenótipo , Neoplasias Hipofisárias/epidemiologia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/terapia , Prevalência , Prognóstico , Proteínas Proto-Oncogênicas/genética , Espanha/epidemiologia
16.
Int J Endocrinol ; 2012: 872305, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22848215

RESUMO

Objective. To evaluate the association between diabetes mellitus and health-related quality of life (HRQOL) controlled for several sociodemographic and anthropometric variables, in a representative sample of the Spanish population. Methods. A population-based, cross-sectional, and cluster sampling study, with the entire Spanish population as the target population. Five thousand and forty-seven participants (2162/2885 men/women) answered the HRQOL short form 12-questionnaire (SF-12). The physical (PCS-12) and the mental component summary (MCS-12) scores were assessed. Subjects were divided into four groups according to carbohydrate metabolism status: normal, prediabetes, unknown diabetes (UNKDM), and known diabetes (KDM). Logistic regression analyses were conducted. Results. Mean PCS-12/MCS-12 values were 50.9 ± 8.5/ 47.6 ± 10.2, respectively. Men had higher scores than women in both PCS-12 (51.8 ± 7.2 versus 50.3 ± 9.2; P < 0.001) and MCS-12 (50.2 ± 8.5 versus 45.5 ± 10.8; P < 0.001). Increasing age and obesity were associated with a poorer PCS-12 score. In women lower PCS-12 and MCS-12 scores were associated with a higher level of glucose metabolism abnormality (prediabetes and diabetes), (P < 0.0001 for trend), but only the PCS-12 score was associated with altered glucose levels in men (P < 0.001 for trend). The Odds Ratio adjusted for age, body mass index (BMI) and educational level, for a PCS-12 score below the median was 1.62 (CI 95%: 1.2-2.19; P < 0.002) for men with KDM and 1.75 for women with KDM (CI 95%: 1.26-2.43; P < 0.001), respectively. Conclusion. Current study indicates that increasing levels of altered carbohydrate metabolism are accompanied by a trend towards decreasing quality of life, mainly in women, in a representative sample of Spanish population.

17.
J Clin Endocrinol Metab ; 97(7): E1294-306, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22549935

RESUMO

CONTEXT: Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI). OBJECTIVE: A group of 100 46,XY DSD and two POI was studied for NR5A1 mutations and their impact. DESIGN: Clinical, biochemical, histological, genetic, and functional characteristics of the patients with NR5A1 mutations are reported. SETTING: Patients were referred from different centers in Spain, Switzerland, and Turkey. Histological and genetic studies were performed in Barcelona, Spain. In vitro studies were performed in Bern, Switzerland. PATIENTS: A total of 65 Spanish and 35 Turkish patients with 46,XY DSD and two Swiss 46,XX patients with POI were investigated. MAIN OUTCOME: Ten novel heterozygote NR5A1 mutations were detected and characterized (five missense, one nonsense, three frameshift mutations, and one duplication). RESULTS: The novel NR5A1 mutations were tested in vitro by promoter transactivation assays showing grossly reduced activity for mutations in the DNA binding domain and variably reduced activity for other mutations. Dominant negative effect of the mutations was excluded. We found high variability and thus no apparent genotype-structure-function-phenotype correlation. Histological studies of testes revealed vacuolization of Leydig cells due to fat accumulation. CONCLUSIONS: SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype. Testes histology is characteristic for fat accumulation and degeneration over time, similar to findings observed in patients with lipoid congenital adrenal hyperplasia (due to StAR mutations). Genotype-structure-function-phenotype correlation remains elusive.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Transtorno 46,XY do Desenvolvimento Sexual/genética , Mutação Puntual , Insuficiência Ovariana Primária/genética , Fator Esteroidogênico 1/genética , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Adolescente , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Dados de Sequência Molecular , Fenótipo , Mutação Puntual/fisiologia , Insuficiência Ovariana Primária/complicações , Adulto Jovem
18.
Clin Nutr ; 31(6): 882-8, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22560740

RESUMO

BACKGROUND & AIMS: To date no nation-wide study has yet been undertaken in Spain to estimate the iodine deficiency. The aim was to evaluate iodine intake and its conditioning factors in a representative sample of the whole adult population. METHODS: The Di@bet.es Study is a national, cross-sectional, population-based survey conducted in 2009-2010 in Spain. RESULTS: The median urinary iodine (UI) was 117.2 µg/L. Iodized salt (IS) was consumed by 43.9% of the population. The median UI in those who consumed IS and in those who did not consume IS was 131.1 and 110.8 µg/L respectively (p<0.0001). The likelihood of having UI levels above 100 µg/L was significantly associated with the intake of IS (OR=1.47) and milk at least once a day (OR=1.22). Within each individual autonomous communities, the median UI levels in those who consumed IS correlated significantly with the median levels of those who did not consume IS (r=0.76, p=0.001). CONCLUSIONS: Though strictly speaking, Spain should be considered within the category of a country having an adequate iodine intake, the current value is too close to the cut point and does not guarantee that those groups with a greater need for iodine will have the required intake of iodine.


Assuntos
Iodo/administração & dosagem , Iodo/deficiência , Iodo/urina , Desnutrição/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , Cloreto de Sódio na Dieta/administração & dosagem , Espanha/epidemiologia , Adulto Jovem
19.
Diabetologia ; 55(1): 88-93, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21987347

RESUMO

AIMS/HYPOTHESIS: The Di@bet.es Study is the first national study in Spain to examine the prevalence of diabetes and impaired glucose regulation. METHODS: A population-based, cross-sectional, cluster sampling study was carried out, with target population being the entire Spanish population. Five thousand and seventy-two participants in 100 clusters (health centres or the equivalent in each region) were randomly selected with a probability proportional to population size. Participation rate was 55.8%. Study variables were a clinical and demographic structured survey, lifestyle survey, physical examination (weight, height, BMI, waist and hip circumference, blood pressure) and OGTT (75 g). RESULTS: Almost 30% of the study population had some carbohydrate disturbance. The overall prevalence of diabetes mellitus adjusted for age and sex was 13.8% (95% CI 12.8, 14.7%), of which about half had unknown diabetes: 6.0% (95% CI 5.4, 6.7%). The age- and sex-adjusted prevalence rates of isolated impaired fasting glucose (IFG), isolated impaired glucose tolerance (IGT) and combined IFG-IGT were 3.4% (95% CI 2.9, 4.0%), 9.2% (95% CI 8.2, 10.2%) and 2.2% (95% CI 1.7, 2.7%), respectively. The prevalence of diabetes and impaired glucose regulation increased significantly with age (p < 0.0001), and was higher in men than in women (p < 0.001). CONCLUSIONS/INTERPRETATION: The Di@bet.es Study shows, for the first time, the prevalence rates of diabetes and impaired glucose regulation in a representative sample of the Spanish population.


Assuntos
Diabetes Mellitus/epidemiologia , Intolerância à Glucose/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Diabetes Mellitus/etnologia , Feminino , Intolerância à Glucose/etnologia , Transtornos do Metabolismo de Glucose/epidemiologia , Transtornos do Metabolismo de Glucose/etnologia , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Distribuição por Sexo , Espanha/epidemiologia , Adulto Jovem
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