224 research outputs found
Pharmacogenetics of ugt genes in North African populations
Cytochrome P450 (CYP450), sulfotransferase (SULT), and glucuronidase (UGT) enzymes play roles in the phase I and phase II metabolism of most clinically prescribed drugs. As polymorphisms in these genes may alter enzyme activities, most prescribed drugs will differ in their efficacy and side effects. In prior work, we showed that besides polymorphisms in CYP450, those in SULT and UGT also give rise to different serum levels of some drug metabolites than detected in wild-type carriers of the genes [1]. [...
Potential signals of natural selection in the top risk loci for coronary artery disease: 9p21 and 10q11
Background: Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations. Objective: In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection. Results: The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD. Conclusions: The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations
Prognostic value of biomarkers after cardiopulmonary bypass in pediatrics: The prospective PANCAP study
Objective:To assess the usefulness of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide as predictors of need for mechanical ventilation and postoperative complications (need for inotropic support and bacterial infection) in critically ill pediatric patients after cardiopulmonary bypass. Design:A prospective, observational study Setting: Pediatric intensive care unit. Patients: Patients under 18 years old admitted after cardiopulmonary bypass. Measuraments and main results: Serum levels of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide were determined immediately after bypass and at 24-36 hours. Their values were correlated with the need for mechanical ventilation, inotropic support and bacterial infection. One hundred eleven patients were recruited. Septal defects (30.6%) and cardiac valve disease (17.1%) were the most frequent pathologies. 40.7% required mechanical ventilation, 94.6% inotropic support and 15.3% presented invasive bacterial infections. Pro-adrenomedullin and pro-atrial natriuretic peptide showed significant high values in patients needing mechanical ventilation. Cut-off values higher than 1.22 nmol/L and 215.3 pmol/L, respectively for each biomarker, may indicate need for mechanical ventilation with an AUC of 0.721 and 0.746 at admission and 0.738 and 0.753 at 24-36 hours, respectively but without statistical differences. Pro-adrenomedullin and procalcitonin showed statistically significant high values in patients with bacterial infections. Conclusions: After bypass, pro-adrenomedullin and pro-atrial natriuretic peptide are suitable biomarkers to predict the need for mechanical ventilation. Physicians should be alert if the values of these markers are high so as not to progress to early extubation. Procalcitonin is useful for predicting bacterial infection. This is a preliminary study and more clinical studies should be done to confirm the value of pro-adrenomedullin and pro-atrial natriuretic peptide as biomarkers after cardiopulmonary bypass
Genetic differentiation of North-East Argentina populations based on 30 binary X chromosome markers
Alu insertions, INDELs, and SNPs in the X chromosome can be useful not only for revealing relationships among populations but also for identification purposes. We present data of 10 Alu insertions, 5 INDELs, and 15 SNPs of X-chromosome from three Argentinian north-east cities in order to gain insight into the genetic diversity of the X chromosome within this region of the country. Data from 198 unrelated individuals belonging to Posadas, Corrientes, and Eldorado cities were genotyped for Ya5DP62, Yb8DP49, Ya5DP3, Ya5NBC37, Ya5DP77, Ya5NBC491, Ya5DP4, Ya5DP13, Yb8NBC634, and Yb8NBC102 Alu insertions, for MID193, MID1705, MID3754, MID3756 and MID1540 Indels and for rs6639398, rs5986751, rs5964206, rs9781645, rs2209420, rs1299087, rs318173, rs933315, rs1991961, rs4825889, rs1781116, rs1937193, rs1781104, rs149910, and rs652 SNPs. No deviations from Hardy-Weinberg equilibrium were observed for Posadas and Corrientes. However, Eldorado showed significant values, and it was found to have an internal substructuring with two groups of different origin, one showing higher similarity with European countries, and the other with more similarities to Posadas and Corrientes. Fst pairwise genetic distances emerged for some markers among the studied populations and also between our data and those from other countries and continents. Of particular interest, Alu insertions demonstrated the most differences, and could be of use in ancestry studies for these populations, while INDELs and SNPs variation were informative for differentiation within the country
Computer-based applications aimed at youth and adults with intellectual disability for the development of support areas
The use of Information and Communication Technologies is widely spread in all fields, including education. In the case of young people and adults with intellectual disabilities, it seems obvious that applications should serve to improve those supports to provide in the different functional areas. In this manuscript, 56 computer applications, in English and/or in Spanish, have been found by means of the search and study of reviews, scientific articles and web pages. Then, its connection with the support areas was evaluated by identifying the link for each computer application with each of the nine support areas. The findings confirm that the digital divide continues to increase and, in some cases, the treatment of the proposed activities promoting a childlike picture of this group is maintained. We found a low level of awareness of the support areas among developers and an imbalance in the applications, since some areas have great coverage while others have a residual presence. Promoting the consideration of the support areas among developers and further training for both educators and youth and adults with intellectual disabilities in order to reach a more productive use of ICT is recommended. Podemos decir que el uso de las TecnologĂas de la InformaciĂłn y ComunicaciĂłn está generalizado en todos los ámbitos, incluido el de la educaciĂłn. En el caso concreto de los jĂłvenes y adultos con discapacidad intelectual, parece obvio que las aplicaciones informáticas deben servir para mejorar los apoyos a prever en las distintas áreas funcionales. En el artĂculo se han localizado 56 aplicaciones informáticas, en inglĂ©s y/o español, a travĂ©s del estudio de revisiones, artĂculos cientĂficos y páginas web. Posteriormente se ha evaluado su relaciĂłn con las áreas de apoyo, identificando el vĂnculo de cada aplicaciĂłn informática con cada una de las nueve áreas. Los resultados obtenidos corroboran que la brecha digital sigue aumentando y, en algunos casos, se mantiene un tratamiento de las actividades propuestas que promociona la imagen infantil del colectivo. Encontramos un escaso conocimiento de las áreas de apoyo entre los desarrolladores y un desequilibrio en las aplicaciones, dado que algunas áreas cuentan con una gran cobertura mientras otras tienen una presencia residual. Se recomienda la promociĂłn de las áreas entre los desarrolladores informáticos y más formaciĂłn de educadores y de jĂłvenes y adultos con discapacidad intelectual, para un empleo más productivo de las TIC
Human diversity in Jordan: polymorphic alu insertions in general jordanian and bedouin groups
Jordan, located in the Levant region, is an area crucial for the investigation of human migration between Africa and Eurasia. However, the genetic history of Jordanians has yet to be clarified, including the origin of the Bedouins today resident in Jordan. Here, we provide new genetic data on autosomal independent markers in two Jordanian population samples (Bedouins and the general population) to begin to examine the genetic diversity inside this country and to provide new information about the genetic position of these populations in the context of the Mediterranean and Middle East area. The markers analyzed were 18 Alu polymorphic insertions characterized by their identity by descent, known ancestral state (lack of insertion), and apparent selective neutrality. The results indicate significant genetic differences between Bedouins and general Jordanians (p = 0.038). Whereas Bedouins show a close genetic proximity to North Africans, general Jordanians appear genetically more similar to other Middle East populations. In general, these data are consistent with the hypothesis that Bedouins had an important role in the peopling of Jordan and constitute the original substrate of the current population. However, migration into Jordan in recent years likely has contributed to the diversity among current Jordanian population groups
Genetic Risk Score of NOS Gene Variants Associated with Myocardial Infarction Correlates with Coronary Incidence across Europe
Coronary artery disease (CAD) mortality and morbidity is present in the European continent in a four-fold gradient across populations, from the South (Spain and France) with the lowest CAD mortality, towards the North (Finland and UK). This observed gradient has not been fully explained by classical or single genetic risk factors, resulting in some cases in the so called Southern European or Mediterranean paradox. Here we approached population genetic risk estimates using genetic risk scores (GRS) constructed with single nucleotide polymorphisms (SNP) from nitric oxide synthases (NOS) genes. These SNPs appeared to be associated with myocardial infarction (MI) in 2165 cases and 2153 controls. The GRSs were computed in 34 general European populations. Although the contribution of these GRS was lower than 1% between cases and controls, the mean GRS per population was positively correlated with coronary incidence explaining 65-85% of the variation among populations (67% in women and 86% in men). This large contribution to CAD incidence variation among populations might be a result of colinearity with several other common genetic and environmental factors. These results are not consistent with the cardiovascular Mediterranean paradox for genetics and support a CAD genetic architecture mainly based on combinations of common genetic polymorphisms. Population genetic risk scores is a promising approach in public health interventions to develop lifestyle programs and prevent intermediate risk factors in certain subpopulations with specific genetic predisposition
Pre-operative anxiolysis in children through a combined pharmacological therapy with hydroxyzine and a non-pharmacological distraction technique with a clown (SONRISA): study protocol for randomised double-blind clinical trial.
Background
Surgery can generate significant stress and anxiety in up to 70% of the paediatric population. There are several pharmacological and non-pharmacological strategies to reduce pre-operative anxiety in children, however, they have several side effects and the available information about them is contradictory. The role of clowns and hydroxyzine in the management of anxiety is controversial, with some studies supporting and others contraindicating both strategies.
Methods
We propose a randomised double-blind, controlled clinical trial that will evaluate the effectiveness of both interventions (hydroxyzine and clowns), alone or in combination, to reduce pre-operative anxiety (using the modified Yale scale of preoperative anxiety) in children aged 2–16 years undergoing outpatient surgery (n = 188).
Subjects will be randomised into two groups – (1) standard procedure (parental accompaniment) combined with placebo or (2) standard procedure combined with preoperative hydroxyzine. After randomisation, they will be divided by chance into two further groups, depending on the presence of clowns on the patient’s surgery day. Control of pre-operative anxiety will be determined in the four groups by a modified Yale scale of preoperative anxiety and cortisol levels. Compliance of children during induction of anaesthesia, time until anaesthesia recovery, presence of postoperative delirium and use of analgesia until discharge will be also assessed. For additional information, the children, parents and healthcare professionals involved in the study will complete a satisfaction survey.
Conclusions
This study aims to gather evidence on which of these four therapeutic options achieves the highest reduction of pre-operative anxiety with the best safety profile to allow paediatricians and anaesthesiologists to use the most effective and safe option for their patients.post-print781 K
Impact of the implementation of best practice guidelines on nurse's evidence-based practice and on nurses' work environment: research protocol
Abstract Aim: To determine the impact of the Best Practice Spotlight Organization® initia- tive on nurses' perception of their work environment and their attitudes to evidence- based practice. Design: Quasi-experimental, multicentre study. The intervention is the participation in Best Prectice Spotilight Organizations to implement Best Practice Guidelines. Methods: The study will include seven centres in the interventional group and 10 in the non-equivalent control group, all of them belonging to the Spanish national health system. The Practice Environment Scale of the Nursing Work Index, and the Health Sciences Evidence-Based Practice Questionnaire will be administered to a sample of 1,572 nurses at the beginning of the programme and at 1 year. This 3-year study started in April 2018 and will continue until December 2021. Statistical analy- ses will be carried out using the SPSS 25.0. This project was approved by the Drug Research Ethics Committee of the Parc de Salut Mar and registered in Clinical Trials. Discussion: The study findings will show the current state of nurses' perception of their work environment and attitudes to evidence-based practice, and possible changes in these parameters due to the programme. Impact: The findings could provide a strong argument for health policymakers to scale up the Best Practice Spotlight Organization® initiative in the Spanish national health system
Analysis of Genomic Regions Associated With Coronary Artery Disease Reveals Continent-Specific Single Nucleotide Polymorphisms in North African Populations.
ACKGROUND: In recent years, several genomic regions have been robustly associated with coronary artery disease (CAD) in different genome-wide association studies (GWASs) conducted mainly in people of European descent. These kinds of data are lacking in African populations, even though heart diseases are a major cause of premature death and disability. METHODS: Here, 384 single nucleotide polymorphisms (SNPs) in the top four CAD risk regions (1p13, 1q41, 9p21, and 10q11) were genotyped in 274 case-control samples from Morocco and Tunisia, with the aim of analyzing for the first time if the associations found in European populations were transferable to North Africans. RESULTS: The results indicate that, as in Europe, these four genetic regions are also important for CAD risk in North Africa. However, the individual SNPs associated with CAD in Africa are different from those identified in Europe in most cases (1p13, 1q41, and 9p21). Moreover, the seven risk variants identified in North Africans are efficient in discriminating between cases and controls in North African populations, but not in European populations. CONCLUSIONS: This study indicates a disparity in markers associated to CAD susceptibility between North Africans and Europeans that may be related to population differences in the chromosomal architecture of these risk regions
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