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The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous prevalence study, 847 people older than 18 years were randomly selected from all over the Basque Country and were invited to answer a medical questionnaire, followed by a physical examination and an oral glucose tolerance test. In the reassessment, the same variables were collected and the resulting cohort comprised 517 individuals of whom 43 had diabetes at baseline. The cumulative incidence of diabetes was 4.64% in 7 years and the raw incidence rate was 6.56 cases/1000 person-years (95%CI: 4.11–9.93). Among the incident cases, 59% were undiagnosed. The most strongly associated markers by univariate analyses were age > 60 years, dyslipidaemia, prediabetes and insulin resistance. We also found association with hypertension, obesity, family history of diabetes and low education level. Multivariate analysis adjusted for age and sex showed that a set of risk factors assessed together (dyslipidaemia, waist-to-hip-ratio and family history of diabetes) had great predictive value (AUC-ROC = 0.899, 95%CI: 0.846–0.953, p = 0.942), which suggests the need for early intervention before the onset of prediabetes. [ABSTRACT FROM AUTHOR]

The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder of calcium metabolism were screened for mutations by Next-Generation Sequencing (NGS). A targeted panel for disorders of calcium and phosphorus metabolism was designed to include 65 genes associated with these disorders. We observed two variants of uncertain significance (p.(Ser487Phe) and p.Asn315Asp), one likely pathogenic (p.Val382Met) and one benign variant (p.Ala393_Gln395dup) in the GCM2 gene in the heterozygous state in five families (two index cases had hypocalcemia and hypoparathyroidism, respectively, and three index cases had primary hyperparathyroidism). Our study shows the utility of NGS in unravelling the genetic origin of some disorders of the calcium and phosphorus metabolism, and confirms the GCM2 gene as an important element for the maintenance of calcium homeostasis. Importantly, a novel variant in the GCM2 gene (p.(Ser487Phe)) has been found in a patient with hypocalcemia. [ABSTRACT FROM AUTHOR]

The aim of the study is to assess the prevalence of metabolic syndrome (MetS) in Spain using specific cutoff points for waist circumference (WC) (>94.5 cm for men and >89.5 cm for women) and evaluating the influence of several socio-demographic and economic factors. Data on MetS were obtained from a national study of 4,727 subjects from 18 to 90 years of age, conducted in Spain between 2009 and 2010 (The di@bet.es study). MetS was defined applying the new Harmonized definition (evaluating the use of abdominal obesity (AO) as a obligatory criterion for MetS or not) as well as with other widely used criteria. Results were then compared with data from previous studies. Multiple logistic regression models were used to evaluate the influence of different social factors. The age-standardized MetS prevalence was 38.37 % (CI 35.74-40.99) in men and 29.62 % (CI 27.56-31.69) in women, when AO was required as a diagnostic criterion; 42.13 % (CI 39.37-44.89) and 32.31 % (CI 30.15-34.47) in men and women, respectively, if AO was not considered mandatory. Prevalence of MetS increased with age ( p < 0.001 for trend). Women with a lower educational level were more likely to have MetS (OR 4.4; 95 % CI: 2.84-6.7) as compared with those with a higher educational level. Subjects with MetS had a worse physical quality of life. The combination of AO, hypertension and carbohydrate alterations was the most common MetS' pattern. A high prevalence of MetS was detected in the Spanish population especially in men, the elderly and women with a low educational level. [ABSTRACT FROM AUTHOR]