Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients

Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma.pt). Molecular genetic testing to detectGLAgene mutations was performed. After the multiplex polymerase chain reactions technique for DNA amplification, direct sequencing of the complete sequence ofGLAgene was completed. From a cohort of 292 patients with JIA (188 females, 104 males), mutations were identified in 5 patients (all female). Four patients had the mutation D313Y, a rareGLAvariant, which is associated with low enzymatic levels in plasma, but normal lysosomal levels. One patient presented the missense mutation R118C, which was previously described in Mediterranean patients with FD. This is the first screening of FD mutations in a cohort of JIA patients. No "classic" pathogenic FD mutations were reported. The late-onset FD-associated mutation, R118C, was found in a frequency of 0.34% (1/292).publishersversionpublishe

a Portuguese and Brazilian collaborative analysis

OBJECTIVE: To investigate the relationship between body mass index (BMI) and disease activity in patients with Juvenile Idiopathic Arthritis (JIA). METHODS: Patients with JIA, aged ≤18 years, registered at the Rheumatic Diseases Portuguese Register (Reuma.pt) in Portugal and Brazil were included. Age- and sex-specific BMI percentiles were calculated based on WHO growth standard charts and categorized into underweight (P 97). Disease activity was assessed by Juvenile Arthritis Disease Activity Score (JADAS-27). Uni- and multivariate analyses were performed. RESULTS: A total of 275 patients were included. The prevalence of underweight, normal weight, overweight and obesity was 6.9%, 67.3%, 15.3% and 10.5%, respectively. Underweight patients had significantly higher number of active joints (p <0.001), patient's/parent's global assessment of disease activity (PGA) (p=0.020), physician's global assessment of disease activity (PhGA) (p <0.001), erythrocyte sedimentation rate (ESR) (p=0.032) and overall higher JADAS-27 (p <0.001), compared to patients with normal weight, overweight and obesity. In the multivariate regression, underweight persisted significantly associated with higher disease activity, compared to normal weight (B=-9.430, p <0.001), overweight (B=-9.295, p=0.001) and obesity (B=-9.120, p=0.001), when adjusted for age, gender, country, ethnicity, JIA category and therapies used. The diagnosis of RF- (B=3.653, p=0.006) or RF+ polyarticular JIA (B=5.287, p=0.024), the absence of DMARD therapy (B=5.542, p <0.001) and the use of oral GC (B=4.984, p=0.002) were also associated with higher JADAS-27. CONCLUSION: We found an independent association between underweight and higher disease activity in patients with JIA. Further studies are needed to understand the underlying mechanisms of this association.publishersversionpublishe

Estimativa de potenciais técnicos de energia renovável em Portugal: eólico, solar fotovoltaico, solar concentrado, biomassa e oceanos

Executive Summary: There is a clear need to accelerate the energy transition, including the implementation of renewable electricity production plants, as well as the increase in consumption of other renewable energy carriers in buildings, industry, transport and other sectors. This work provides key information to make this transition possible, that is, the technical renewable energy potentials for Portugal. The aim is thus to contribute to policy support, as well as to decision-making by various Portuguese stakeholders (public and private) in the domains of energy, energy transition and greenhouse gases emissions mitigation. The work presents the technical renewable energy potentials for Portugal to: (i) decentralized solar photovoltaic (PV) plants in artificialized (or built-up) areas; (ii) centralized solar PV plants in non-artificialized (or natural) areas; (iii) concentrated solar power; (iv) onshore wind; (v) offshore wind (floating and fixed); (vi) bioenergy, and (vii) solar thermal. The wave energy primary energy resource potential is also presented (not the technical potential). The technical potential values of renewable energy sources (RES) presented are dynamic values, given the substantial uncertainty associated with their estimation. The study identifies technical RES potentials i.e., the technically viable energy generation achievable from a specific technology, considering the primary energy resource available and the geographic, environmental and land use limitations. RES economic potentials represent the fraction of RES technical potential that is economically viable, but they are not presented in this work. Likewise, this report does not address market potential, that translate the capacity and energy generation that the market effectively manages to implement. The presented RES technical potentials include the total capacity currently installed in the country. The technical potentials are estimated mostly for mainland Portugal, in most cases with a spatial disaggregation of at least NUT2 and sometimes for NUT5 and/or type of building. Despite adopting an approach based on a territorial analysis in which some areas of the country are excluded, this potential does not correspond to the work done in mapping less-sensitive areas towards future definition of RES “Go-To Areas”. The decentralized solar PV potential in artificialized areas is divided into 6 area types: industrial areas; commercial buildings; residential and mixed-use buildings; villas; health, education, cultural, tourist and military buildings, and other land uses (including parking lots and patios, ports, waste and wastewater treatment infrastructure, sports facilities, among others). It is estimated a technical potential of 23.33 GW that could generate up to 36.84 TWh/year. This potential is distributed throughout the entire territory of mainland Portugal but is higher in the North and Center regions. The RES technical potential for centralized solar PV was estimated as a range of values that translate the uncertainty associated with using different levels of concern in excluding certain areas in which solar PV can be deployed (for example to safeguard ecosystems, water resources, agriculture or archaeological heritage). The centralized solar PV potential varies between 168.82 GW and 45.63 GW. The maximum threshold of installed capacity could generate 278.11 TWh/year of electricity. The value is high and reflects on the one hand, the excellence of the solar resource throughout the country, and on the other, the large size of the considered areas. The CSP potential is 62.6 GW with a corresponding electrical production potential of 183.61 TWh/year. It is mainly located in the Alentejo region, although other areas have also been identified in other regions of the country. The wind onshore technical potential is 15.7 GW, that could generate 37.13 TWh/year, taking into account the safeguarding of various areas for the protection of ecosystems and also social acceptability issues. In the case of offshore wind and considering a capacity density of 4 MW/km2 for floating offshore and 5.5 MW/km2 for fixed offshore, a total of 36 GW and 2 GW are obtained, respectively. This capacity could generate up to 126.14 TWh/year (floating offshore) or 6.31 TWh/year (fixed offshore). The solar thermal energy potential focused residential and service buildings (such as nursing homes, barracks, etc., tourism, hospitals, indoor swimming pools and other sports facilities). The potential is of 0.95 GWt and 0.95 TWh/year for service buildings, 7.26 GWt and 5.84 TWh/year for residential buildings. For industry there is a potential of 1.06 GWt, which could generate up to 1.15 TWh/year for applications up to 160 ºC. The total technical potential of solar thermal is 9.25 GWt and 7.93 TWh/year of thermal energy generated, with a substantial weight of residential buildings in the total value. Potential values are disaggregated by NUTS III and type of building. In terms of biomass and bioenergy potential, annual values of forest biomass, agricultural biomass, agro-industrial waste, urban waste and wastewater treatment are estimated, totaling around 58 TWh/year. Regarding the production of biofuels (HVO and FAME) it is estimated that the annual production of domestic used oils and other similar residues is 1.4 TWh/year. The use of oils from food crops such as soybean, sunflower and rapeseed is limited by European (and national) policy guidelines and is 2.1 TWh/year. Regarding wave energy, the resource potential is estimated between 1.4 GW for 80 m bathymetry and 4.8 for 20 m bathymetry. There are substantial uncertainties associated with the presented values, inherent to the methodological approach considered. Nevertheless, these estimates are a valuable starting point to be refined and improved in subsequent updates.N/

Data from Reuma.pt

Introduction. This study aimed to assess the genetic determinants of poor outcome in Portuguese patients with juvenile idiopathic arthritis (JIA). Methods. Our study was conducted in Reuma.pt, the Rheumatic Diseases Portuguese Register, which includes patients with JIA. We collected prospectively patient and disease characteristics and a blood sample for DNA analysis. Poor prognosis was defined as CHAQ/HAQ >0.75 at the last visit and/or the treatment with biological therapy. A selected panel of single nucleotide polymorphisms (SNPs) associated with susceptibility was studied to verify if there was association with poor prognosis. Results. Of the 812 patients with JIA registered in Reuma.pt, 267 had a blood sample and registered information used to define "poor prognosis." In univariate analysis, we found significant associations with poor prognosis for allele A of TNFA1P3/20 rs6920220, allele G of TRAF1/C5 rs3761847, and allele G of PTPN2 rs7234029. In multivariate models, the associations with TRAF1/C5 (1.96 [1.17-3.3]) remained significant at the 5% level, while TNFA1P3/20 and PTPN2 were no longer significant. Nevertheless, none of associations found was significant after the Bonferroni correction was applied. Conclusion. Our study does not confirm the association between a panel of selected SNP and poor prognosis in Portuguese patients with JIA.publishersversionpublishe

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

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