A methodological proposal and tool support for the HL7 standards compliance in the development of health information systems

Health information systems are increasingly complex, and their development is presented as a challenge for software development companies offering quality, maintainable and interoperable products. HL7 (Health level 7) International, an international non-profit organization, defines and maintains standards related to health information systems. However, the modelling languages proposed by HL7 are far removed from standard languages and widely known by software engineers. In these lines, NDT is a software development methodology that has a support tool called NDT-Suite and is based, on the one hand, on the paradigm of model-driven engineering and, on the other hand, in UML that is a widely recognized standard language. This paper proposes an extension of the NDT methodology called MoDHE (Model Driven Health Engineering) to offer software engineers a methodology capable of modelling health information systems conforming to HL7 using UML domain models

Use of Principal Component Analysis to Combine Genetic Merit for Heat Stress and for Fat and Protein Yield in Spanish Autochthonous Dairy Goat Breeds

We studied the effect of the Temperature Humidity Index (THI) (i.e., the average of temperature and relative humidity registered at meteorological stations) closest to the farms taken during the test day (TD), for total daily protein and fat yields (fpy) of the three main Spanish dairy goats. The data were from Florida (11,244 animals and 126,825 TD), Malagueña (12,215 animals and 141,856 TD) and Murciano Granadina (5162 animals and 62,834 TD) breeding programs and were studied by different linear models to estimate the nature of the fpy response throughout the THI and the weeks of lactation (Days in Milk, DIM) trajectories. The results showed an antagonism between THI and DIM, with a marked depression in the fpy level in animals kept in the hot zone of the THI values (THI > 25) compared with those in the cold zone (THI ≤ 16), with a negative impact equivalent to production of 13 to 30 days. We used a Reaction Norm model (RN), including THI and DIM as fixed covariates and a Test Day Model (TDM), to estimate the genetic (co)variance components. The heritability and genetic correlations estimated with RN and TDM showed a decreased pattern along the scale of THI and DIM, with slight differences between breeds, meaning that there was significant genetic variability in the animal’s ability to react to different levels of THI, which is not constant throughout the DIM, showing the existence of genotype-environment interaction. The breeding values (BV) of all animals for each level of THI and DIM were subject to a principal component analysis, and the results showed that 89 to 98% of the variance between the BV was explained by the two first eigenvalues. The standardized BV were weighted with the corresponding eigenvector coefficients to construct an index that showed, in a single indicator, the most complete expression of the existing genetic variability in the animals’ ability to produce fpy along the trajectories of THI and DIM. This new option will make it easier to select animals which are more productive, and with better adaptability to heat stress, as well as enabling us to exploit genetic variations in the form of the response to heat stress to be adapted to different production systems

Genetic Parameters of Somatic Cell Score in Florida Goats Using Single and Multiple Traits Models

A total of 1,031,143 records of daily dairy control test of Spanish Florida goats were used for this study. The database was edited, and only the records of the first three lactations were kept. The final database contained 340,654 daily-test somatic cell counts from 27,749 daughters of 941 males and 16,243 goats. The evolution of this count in the last 14 years was analyzed following French and American international associations’ criteria for the risk of mastitis in goats, and confirmed the slight increase in SCS in the last years and the importance of this problem (50% of dairy control tests show a risk of suffering mastitis). For the genetic analysis, the SCS records were log-transformed to normalize this variable. Two strategies were used for the genetic analysis: a univariate animal model for the SCS assuming that SCS does not vary throughout the parities, and a multi-character animal model, where SCS is not considered as the same character in the different parities. The heritabilities (h2) were higher in the multiple traits models, showings an upward trend from the first to the third parity (h2 between 0.245 to 0.365). The genetic correlations of the same trait, as well as between breeding values (GVs) between different parities, were different from unity. The breeding values (EBVs) obtained for both models were subjected to a PCA: the first eigenvector (λ1) explained most of the variations (between 74% to 90%), while the second λ2 accounted for between 9% to 20% of the variance, which shows that the selection will be proportionally favorable but not equivalent in all parities and that there are some variations in the type of response

Litio como terapia neuroprotectora en el modelo appsl/ps1m146l de la enfermedad de Alzheimer

El litio se utiliza desde hace varias décadas en el tratamiento de trastornos bipolares y la depresión, y recientemente se debate su uso potencial en patologías neurodegenerativas como la enfermedad de Alzheimer (AD)

Sustainability indicator for the prevention of potential thermal interferences between groundwater heat pump systems in urban aquifers

The steady increase of geothermal systems using groundwater is compromising the renewability of the geothermal resources in shallow urban aquifers. To ensure sustainability, scientifically-based criteria are required to prevent potential thermal interferences between geothermal systems. In this work, a management indicator (balanced sustainability index, BSI) applicable to groundwater heat pump systems is defined to assign a quantitative value of sustainability to each system, based on their intrinsic potential to produce thermal interference. The BSI indicator relies on the net heat balance transferred to the terrain throughout the year and the maximum seasonal thermal load associated. To define this indicator, 75 heating-cooling scenarios based in 23 real systems were established to cover all possible different operational conditions. The scenarios were simulated in a standard numerical model, adopted as a reference framework, and thermal impacts were evaluated. Two polynomial regression models were used for the interpolation of thermal impacts, thus allowing the direct calculation of the sustainability indicator developed as a function of heating-cooling ratios and maximum seasonal thermal loads. The BSI indicator could provide authorities and technicians with scientifically-based criteria to establish geothermal monitoring programs, which are critical to maintain the implementation rates and renewability of these systems in the cities

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

Background The enteric nervous system (ENS) is entirely derived from neural crest and its normal development is regulated by specific molecular pathways. Failure in complete ENS formation results in aganglionic gut conditions such as Hirschsprung's disease (HSCR). Recently, PROKR1 expression has been demonstrated in mouse enteric neural crest derived cells and Prok-1 was shown to work coordinately with GDNF in the development of the ENS. Principal Findings In the present report, ENS progenitors were isolated and characterized from the ganglionic gut from children diagnosed with and without HSCR, and the expression of prokineticin receptors was examined. Immunocytochemical analysis of neurosphere-forming cells demonstrated that both PROKR1 and PROKR2 were present in human enteric neural crest cells. In addition, we also performed a mutational analysis of PROKR1, PROKR2, PROK1 and PROK2 genes in a cohort of HSCR patients, evaluating them for the first time as susceptibility genes for the disease. Several missense variants were detected, most of them affecting highly conserved amino acid residues of the protein and located in functional domains of both receptors, which suggests a possible deleterious effect in their biological function. Conclusions Our results suggest that not only PROKR1, but also PROKR2 might mediate a complementary signalling to the RET/GFRα1/GDNF pathway supporting proliferation/survival and differentiation of precursor cells during ENS development. These findings, together with the detection of sequence variants in PROKR1, PROK1 and PROKR2 genes associated to HSCR and, in some cases in combination with RET or GDNF mutations, provide the first evidence to consider them as susceptibility genes for HSCR.This work was supported by Fondo de Investigación Sanitaria, Spain (PI070080, PI1001290 and PI071315 for the E-Rare project), Consejería de Innovación Ciencia y Empresa de la Junta de Andalucía (CTS 2590) and Consejería de Salud de la Junta de Andalucía (PI0249-2008). The CIBER de Enfermedades Raras is an initiative of the ISCIII. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Peer reviewe

Efficiency analysis of the visibility of Latin American universities and their impact on the ranking web

The study analyzes the factors that contribute to the technical efficiency of the visibility of the universities included in the Top100 of the Latin American Universities Ranking Web published by Webometrics database in January, 2017. Data Envelopment Analysis (DEA) was used to calculate the contributions of input variables to efficiency. As data sources for inputs, the study considers the academic data published on the web of each university, the content and profiles displayed from Google Scholar (GS), data by university published in ResearchGate as a scientific network, and finally, data from social networks as Twitter and Facebook accounts of the respective institutions. The postgraduate offer, visibility in GS, and the use of scientific and social networks contribute favorably to the web positioning of Latin American universities

Protective Role of the Interleukin 33 rs3939286 Gene Polymorphism in the Development of Subclinical Atherosclerosis in Rheumatoid Arthritis Patients

OBJECTIVES: To determine whether the interleukin-33 (IL-33)-interleukin-1 receptor like 1 (IL-1RL1) signaling pathway is implicated in the risk of subclinical atherosclerosis in patients with rheumatoid arthritis (RA). METHODS: A total of 576 Spanish RA patients from Northern Spain were genotyped for 6 well-known IL33-IL1RL1 polymorphisms (IL33 rs3939286, IL33 rs7025417, IL33 rs7044343, IL1RL1 rs2058660, IL1RL1 rs2310173 and IL1RL1 rs13015714) by TaqMan genotyping assay. The presence of subclinical atherosclerosis was determined by the assessment of carotid intima-media thickness (cIMT) by carotid ultrasound (US). RESULTS: RA patients carrying the TT genotype of the IL33 rs3939286 polymorphism had lower cIMT values than those homozygous for the CC genotype (mean ± standard deviation (SD): 0.71 ± 0.14 mm versus 0.76 ± 0.16 mm, respectively) while patients carrying the CT genotype had intermediate cIMT values (mean ± SD: 0.73 ± 0.17 mm). Moreover, RA patients carrying the mutant allele T of the IL33 rs3939286 polymorphism exhibited significantly lower cIMT values than those carrying the wild allele C (mean ± SD: 0.72 ± 0.16 mm versus 0.75 ± 0.18 mm respectively; p = 0.04). The association of both genotype and allele frequencies of IL33 rs3939286 and cIMT levels remained statistically significant after adjustment for sex, age at the time of US study, follow-up and center (p = 0.006 and p = 0.0023, respectively), evidencing that the potential effect conferred by IL33 rs3939286 may be independent of confounder factors. No association with other IL33-IL1RL1 genetic variants was observed. CONCLUSIONS: In conclusion, our results may suggest a potential protective effect of the IL33 rs3939286 allele T in the risk of subclinical atherosclerosis in patients with RA

The role of premorbid iq and age of onset as useful predictors of clinical, functional outcomes, and recovery of individuals with a first episode of psychosis

Background: premorbid IQ (pIQ) and age of onset are predictors of clinical severity and long-term functioning after a first episode of psychosis. However, the additive influence of these variables on clinical, functional, and recovery rates outcomes is largely unknown. Methods: we characterized 255 individuals who have experienced a first episode of psychosis in four a priori defined subgroups based on pIQ (low pIQ < 85; average pIQ = 85) and age of onset (early onset < 18 years; adult onset = 18 years). We conducted clinical and functional assessments at baseline and at two-year follow-up. We calculated symptom remission and recovery rates using the Positive and Negative Symptoms of Schizophrenia Schedule (PANSS) and the Global Assessment Functioning (GAF or Children-GAF). We examined clinical and functional changes with pair-wise comparisons and two-way mixed ANOVA. We built hierarchical lineal and logistic regression models to estimate the predictive value of the independent variables over functioning or recovery rates. Results: early-onset patients had more severe positive symptoms and poorer functioning than adult-onset pa-tients. At two-year follow-up, only early-onset with low pIQ and adult-onset with average pIQ subgroups differed consistently, with the former having more negative symptoms (d = 0.59), poorer functioning (d = 0.82), lower remission (61% vs. 81.1%), and clinical recovery (34.1% vs. 62.2%). Con-clusions: early-onset individuals with low pIQ may present persistent negative symptoms, lower functioning, and less recovery likelihood at two-year follow-up. Intensive cognitive and functional programs for these individuals merit testing to improve long-term recovery rates in this subgroup. © 2021 by the authors. Licensee MDPI, Basel, Switzerland