The imprint of global climate cycles in the Fuentillejo maar-lake record during the last 50 ka cal BP (central Spain)

We have analysed the geochemical (element analysis), mineralogical and sedimentary facies to characterize the sedimentary record in Fuentillejo maar-lake in the central Spanish volcanic field of Campo de Calatrava and thus be able to reconstruct the cyclicity of the sedimentary and paleoclimatic processes involved. The upper 20 m of core FUENT-1 show variations in clastic input and water chemistry in the lake throughout the last 50 ka cal BP. Being a closed system, the water level in this maar-lake depends primarily on the balance between precipitation and evaporatio

Anthracological evidence suggests naturalness of Pinus pinaster in inland southwestern Iberia

The study of well-preserved archaeological charcoals in the pre-Roman Iron Age settlement of Castillejos II (Badajoz, Spain) is used to reconstruct environmental conditions and land-use practices in vegetation landscapes in the southwest of the Iberian Peninsula before the arrival of Roman civilization. The results support that, while evergreen Quercus forests dominated during the Holocene, Pinus pinaster existed as a natural element of southwestern Iberian Peninsula vegetation. Although its presence could be linked to anthropogenic disturbance or fire history, it is suggested that P. pinaster populations survived during the Holocene in the region, mixed with oaks or in monospecific stands in mountain enclaves. This hypothesis contrasts with previous assumptions that P. pinaster was not autochthonous in the area

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Background: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Results: Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5–40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106–136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03–2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68–3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25–2.34) versus 2.25 (1.62–3.00) in patients not treated with ERT. Conclusions: The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams

‘Trendy’ cities: exploring the adoption of different types of social media by Portuguese municipalities

What are the determinants of social media adoption by local government? This ongoing research provides a tentative answer to this question by analysing the 308 municipalities in Portugal. Extending previous analyses of Facebook and/or Twitter usage levels, we examine why local governments adopt a particular social media platform. More concretely, we explore, with statistical analyses, the determinants of the adoption of different types of social media. We investigate the adoption of three extremely popular social media (i.e. Facebook, Twitter and YouTube) as well as possible alternatives to those, more popular, applications. Since these platforms have distinct natures and can serve diverse purposes, we examine to what extent aspects such as local government’s commitment to transparency and participation, administrative capacity, media landscape, and socio-demographic and economic factors can explain the adoption of certain social media platforms. The results show that, indeed, demographic characteristics and administrative capacity are important factors for the adoption of less popular social media. Surprisingly, we also observe a geographical difference in municipalities’ social media adoption, with the south, in this regard, being ‘trendier’, or more innovative, than the north.This paper is a result of the project “SmartEGOV: Harnessing EGOV for Smart Governance (Foundations, methods, Tools)/NORTE-01-0145-FEDER-000037”, supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (EFDR). António Tavares acknowledges the financial support of the Portuguese Foundation for Science and Technology and the Portuguese Ministry of Education and Science through national funds [Grant No. UID/CPO/0758/2019]

Therapeutic implications of selecting the SCORE (European) versus the D'AGOSTINO (American) risk charts for cardiovascular risk assessment in hypertensive patients

Background: No comparisons have been made of scales estimating cardiovascular mortality and overall cardiovascular morbidity and mortality. The study objectives were to assess the agreement between the Framingham-D'Agostino cardiovascular risk (CVR) scale and the chart currently recommended in Europe (SCORE) with regard to identification of patients with high CVR, and to describe the discrepancies between them and the attendant implications for the treatment of hypertension and hyperlipidaemia. Methods: A total of 474 hypertensive patients aged 40-65 years monitored in primary care were enrolled into the study. CVR was assessed using the Framingham-D'Agostino scale, which estimates the overall cardiovascular morbidity and mortality risk, and the SCORE chart, which estimates the cardiovascular mortality risk. Cardiovascular risk was considered to be high for values ≥ 20% and ≥ 5% according to the Framingham-D'Agostino and SCORE charts respectively. Kappa statistics was estimated for agreement in classification of patients with high CVR. The therapeutic recommendations in the 2007 European Guidelines on Cardiovascular Disease Prevention were followed. Results

An analysis of local and global solutions to address Big Data imbalanced classification: a case study with SMOTE preprocessing

Addressing the huge amount of data continuously generated is an important challenge in the Machine Learning field. The need to adapt the traditional techniques or create new ones is evident. To do so, distributed technologies have to be used to deal with the significant scalability constraints due to the Big Data context. In many Big Data applications for classification, there are some classes that are highly underrepresented, leading to what is known as the imbalanced classification problem. In this scenario, learning algorithms are often biased towards the majority classes, treating minority ones as outliers or noise. Consequently, preprocessing techniques to balance the class distribution were developed. This can be achieved by suppressing majority instances (undersampling) or by creating minority examples (oversampling). Regarding the oversampling methods, one of the most widespread is the SMOTE algorithm, which creates artificial examples according to the neighborhood of each minority class instance. In this work, our objective is to analyze the SMOTE behavior in Big Data as a function of some key aspects such as the oversampling degree, the neighborhood value and, specially, the type of distributed design (local vs. global).Instituto de Investigación en Informátic

Documento de posición sobre las necesidades y niveles óptimos de vitamina D

IntroducciónEn los últimos años se ha producido un notable interés por la vitamina D, no sólo por su importancia crucial en el metabolismo mineral óseo, sino también por los efectos extraóseos, cada vez mejor conocidos. Asi mismo, se ha constatado la existencia de valores séricos bajos de vitamina D, por debajo de lo deseable, en diferentes poblaciones, tanto sanas como enfermas, y se discute cuáles serían los niveles óptimos de vitamina D en sangre. Por todo ello, la Sociedad Española de Investigación Ósea y Metabolismo Mineral (SEIOMM), conjuntamente con todas las Sociedades Científicas implicadas en el estudio del metabolismo óseo, han elaborado el presente documento de posición sobre las necesidades y niveles óptimos de vitamina D

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

<p>Abstract</p> <p>Background</p> <p>Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D₃(1,25(OH)₂D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the <it>PHEX </it>gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies.</p> <p>Methods</p> <p>Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the <it>PHEX </it>gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test.</p> <p>Results</p> <p>Mutations in the <it>PHEX </it>gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%), most of them resulted in a truncated PHEX protein (83.3%) and were family specific (88.9%). Tubular reabsorption of phosphate (TRP) and 1,25(OH)₂D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013).</p> <p>Conclusions</p> <p><it>PHEX </it>gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious <it>PHEX </it>mutations had lower TRP and 1,25(OH)₂D levels suggesting that the <it>PHEX </it>type of mutation might predict the XLHR phenotype severity.</p