A crowdsourcing database for the copy-number variation of the spanish population

Background: Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants. Results: Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/. Conclusion: SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.This work is supported by Grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation; by the Institute of Health Carlos III (project IMPaCT-Data, exp. IMP/00019, IMP/00009 and PI20/01305), co-funded by the European Union, European Regional Development Fund (ERDF, “A way to make Europe”)

Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease

Computed tomography; Childhood; Interstitial lung diseaseTomografía computarizada; Infancia; Enfermedad pulmonar intersticialTomografia assistida per ordinador; Infància; Malaltia pulmonar intersticialMaking chILD diagnoses on CT is poorly reproducible, even amongst sub-specialists. CT might best improve diagnostic confidence in a multidisciplinary team setting when augmented with clinical, functional and haematological results.Joseph Jacob was supported by Wellcome Trust Clinical Research Career Development Fellowship 209553/Z/17/Z. Andrew Bush is an Emeritus NIHR Senior Investigator and is supported by chILD-EU (FP7, No: 305653) and the European Cooperation in Science and Technology COST A16125. Andre Altmann holds an MRC eMedLab Medical Bioinformatics Career Development Fellowship. This work was supported by the Medical Research Council (grant number MR/L016311/1). Funding information for this article has been deposited with the Crossref Funder Registry

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access

Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients

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

National and regional asthma programmes in Europe.

This review presents seven national asthma programmes to support the European Asthma Research and Innovation Partnership in developing strategies to reduce asthma mortality and morbidity across Europe. From published data it appears that in order to influence asthma care, national/regional asthma programmes are more effective than conventional treatment guidelines. An asthma programme should start with the universal commitments of stakeholders at all levels and the programme has to be endorsed by political and governmental bodies. When the national problems have been identified, the goals of the programme have to be clearly defined with measures to evaluate progress. An action plan has to be developed, including defined re-allocation of patients and existing resources, if necessary, between primary care and specialised healthcare units or hospital centres. Patients should be involved in guided self-management education and structured follow-up in relation to disease severity. The three evaluated programmes show that, thanks to rigorous efforts, it is possible to improve patients quality of life and reduce hospitalisation, asthma mortality, sick leave and disability pensions. The direct and indirect costs, both for the individual patient and for society, can be significantly reduced. The results can form the basis for development of further programme activities in Europe

Versión española del TAPQOL: Calidad de vida relacionada con la salud en niños de 3 meses a 5 años [Spanish version of the TNO-AZL preschool children quality of life questionnaire (TAPQOL)]

Objectives: To obtain a Spanish version of the TNO-AZL Preschool Children Quality of Life Questionnaire (TAPQOL) that would be both semantically and culturally equivalent to the original. Material and methods: The TAPQOL questionnaire was designed to measure health-related quality of life in children aged 3 months to 5 years and contains 43 questions distributed in 12 subdimensions. The Spanish version was obtained by using the forward/back-translation method with expert, bilingual translators. Cognitive debriefing interviews were carried out with the parents of healthy children and with those of children with respiratory disease. Results: During the adaptation phase, four items were modified after input from the authors of the original version to retain the meaning of the original. At the end of the adaptation process, 37 of the 43 items were classified as A, i.e. without difficulty in the adaptation. Four mothers and two fathers participated in the cognitive debriefing interviews. Four had secondary level education, and two had university level education. Their children were aged between 16 and 60 months. The average time taken to complete the questionnaire was 13.5 minutes. No comprehension problems regarding the questionnaire's content were found, and no items were modified after this phase of the study. The mothers of children with respiratory disease considered the questions related to their children's symptoms to be appropriate. Conclusions: The Spanish version of the TAPQOL has proven to be acceptable and culturally equivalent to the original version. Future studies should investigate the psychometric properties of this questionnaire and compare them with those of the original version