Dificultades en el Aprendizaje : Unificación de Criterios Diagnósticos. I. Definición, Características y tipos

El libro plantea que las Dificultades en el Aprendizaje se refieren a un grupo de trastornos que frecuentemente suelen confundirse entre sí. Las razones fundamentales de tal confusión son: la falta de una definición clara, los solapamientos existentes entre los diferentes trastornos que integran las Dificultades en el Aprendizaje, sobre todo cuando median aspectos de privación educativa y social, y, en tercer lugar, la heterogeneidad de la población escolar a la que se refieren

Genetic Structure of the Spanish Population

<p>Abstract</p> <p>Background</p> <p>Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias.</p> <p>Results</p> <p>In this study we have sampled over 800 unrelated individuals from the population of Spain, and have genotyped them with a genome-wide coverage. We have carried out linkage disequilibrium, haplotype, population structure and copy-number variation (CNV) analyses, and have compared these estimates of the Spanish population with existing data from similar efforts.</p> <p>Conclusions</p> <p>In general, the Spanish population is similar to the Western and Northern Europeans, but has a more diverse haplotypic structure. Moreover, the Spanish population is also largely homogeneous within itself, although patterns of micro-structure may be able to predict locations of origin from distant regions. Finally, we also present the first characterization of a CNV map of the Spanish population. These results and original data are made available to the scientific community.</p

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

BACKGROUND: Non-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNP)s from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8)), and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11)). Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599), 8q24 (rs10505477), 8q24.21(rs6983267), 11q13.4 (rs3824999) and 14q22.2 (rs4444235). CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk

To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in a new sample. In Stage I, all suggestive single-nucleotide polymorphisms (at P <0.001) in a previously reported GWAS of seven independent studies (8082 Alzheimer's disease (AD) cases; 12 040 controls) were selected, and in Stage II these were examined in an in silico analysis within the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium GWAS (1367 cases and 12904 controls). Six novel signals reaching P <5 × 10 −6 were genotyped in an independent Stage III sample (the Fundació ACE data set) of 2200 sporadic AD patients and 2301 controls. We identified a novel association with AD in the adenosine triphosphate (ATP) synthase, H+ transporting, mitochondrial F0 (ATP5H)/Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus, which reached genome-wide significance in the combined discovery and genotyping sample (rs11870474, odds ratio (OR)=1.58, P =2.6 × 10 −7 in discovery and OR=1.43, P =0.004 in Fundació ACE data set; combined OR=1.53, P =4.7 × 10 −9). This ATP5H / KCT D2 locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions, such as hypoxia or glucose deprivation

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Proyecto de turismo vivencial en la provincia de La Unión Cotahuasi, Arequipa

Tesi

Milk yield prediction at late lactation in reproductive rabbit does

Separating kits and mother to determine milk yield at 4th wk of lactation (MY4) could have negative consequences on the training and development of young rabbits. In this work, a total of 313 lactation curves (28 d long), taken from 2 different trials, were used to fit regression models to estimate MY4. In both trials, females were subjected to a semi-intensive reproductive rhythm [insemination at 11 d post-partum (dpp) and weaning at 28 dpp], but diets, genetic types, parity order and day of controls were slightly different. The models included variables which, according to the bibliography, are related to milk yield and are often recorded in joint management (without separation of litters  rom mothers), such as litter size at weaning (LSW; both linear and quadratic), joint energy intake of doe plus litter at 4th wk of lactation (JEI; both linear and quadratic), perirenal fat thickness change (ΔPFTd) and milk yield at 3rd wk (MY3). The overlapping degree (OL) between current lactation and next pregnancy was included as a dummy variable, as well as their interactions with quantitative traits. To fit these models, 3  procedures were proposed to obtain accurate equations with biological meaning: Eq1, multiple linear regression (MLR) of data; Eq2, MLR with previous smoothing of sample distribution; and Eq3, MLR with previous smoothing and avoiding redundant samples and collinearities among variables. MY3 had a positive and relevant linear effect on MY4 for the 3 equations obtained (responsible for 39 to 50% of MY4 prediction). JEI had also a relevant role in MY4 prediction (28 to 61%), its positive effect being linear on Eq1, quadratic on Eq2 and both linear and quadratic on Eq3. ΔPFTd and LSW related traits were only included in Eq3, with a low relative weight, and OL inclusion did not improve prediction in any equation. Predicting MY4 was possible with the variables used, although certain precautions must be taken. Traditional MLR seems to predict central values properly, but extreme values poorly, whereas pre-treatment of data to smooth the dependent variable distribution appears to improve prediction of extreme values.</p