Aplicación del programa “PAEJA” y Grafomotricidad en niños de 5 años de la Institución Educativa Pública Huaycán Ate, 2014

La investigación “Aplicación del programa PAEJA y Grafomotricidad en niños de cinco años de la institución educativa inicial Nº 167; de HUAYCAN, del distrito de Ate- 2014”: tiene por objetivo demostrar la eficacia del programa PAEJA para estimular la habilidad grafo motora en niños de 5 años de edad, en el nivel pre-escolar con finalidad preventiva para el desarrollo de la capacidad de la escritura. El estudio es aplicado, cuantitativo, utiliza el método experimental, y el método hipotético deductivo en el análisis de la información y de los datos. Para la observación del desempeño grafo motor se ha elaborado una prueba cuya confiabilidad en el coeficiente de Kuder-Richardson obtuvo el valor KR-20 = .78 determinándose apta para aplicarse en el experimento. El diseño de la investigación es cuasi experimental, con dos grupos experimental y control, medición pre test y post test. Los resultados obtenidos a través de la Prueba: “t” de student, alcanzó el valor= 71.842.y una significación estadística S.E.= .000, determinando la aprobación de la hipótesis general alternativa que dice: “El programa “PAEJA” es eficaz para intervenir en la corrección de los errores de tipo grafo motricidad, en los niños de 5 años de una Institución Educativa Inicial de Huaycán, del distrito de Ate

Biochemicka a molekularni podstata mitochondrialnich onemocneni.

Available from STL Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi

Aplicación del programa “PAEJA” y Grafomotricidad en niños de 5 años de la Institución Educativa Pública Huaycán Ate, 2014

TesisLima NorteEscuela de PosgradoInnovaciones pedagógicasLa investigación “Aplicación del programa PAEJA y Grafomotricidad en niños de cinco años de la institución educativa inicial Nº 167; de HUAYCAN, del distrito de Ate- 2014”: tiene por objetivo demostrar la eficacia del programa PAEJA para estimular la habilidad grafo motora en niños de 5 años de edad, en el nivel pre-escolar con finalidad preventiva para el desarrollo de la capacidad de la escritura. El estudio es aplicado, cuantitativo, utiliza el método experimental, y el método hipotético deductivo en el análisis de la información y de los datos. Para la observación del desempeño grafo motor se ha elaborado una prueba cuya confiabilidad en el coeficiente de Kuder-Richardson obtuvo el valor KR-20 = .78 determinándose apta para aplicarse en el experimento. El diseño de la investigación es cuasi experimental, con dos grupos experimental y control, medición pre test y post test. Los resultados obtenidos a través de la Prueba: “t” de student, alcanzó el valor= 71.842.y una significación estadística S.E.= .000, determinando la aprobación de la hipótesis general alternativa que dice: “El programa “PAEJA” es eficaz para intervenir en la corrección de los errores de tipo grafo motricidad, en los niños de 5 años de una Institución Educativa Inicial de Huaycán, del distrito de Ate

The Population Diversity of Candidate Genes for Resistance/Susceptibility to Coronavirus Infection in Domestic Cats: An Inter-Breed Comparison

Feline coronavirus (FCoV) is a complex pathogen causing feline infectious peritonitis (FIP). Host genetics represents a factor contributing to the pathogenesis of the disease. Differential susceptibility of various breeds to FIP was reported with controversial results. The objective of this study was to compare the genetic diversity of different breeds on a panel of candidate genes potentially affecting FCoV infection. One hundred thirteen cats of six breeds were genotyped on a panel of sixteen candidate genes. SNP allelic/haplotype frequencies were calculated; pairwise FST and molecular variance analyses were performed. Principal coordinate (PCoA) and STRUCTURE analyses were used to infer population structure. Interbreed differences in allele frequencies were observed. PCoA analysis performed for all genes of the panel indicated no population substructure. In contrast to the full marker set, PCoA of SNP markers associated with FCoV shedding (NCR1 and SLX4IP) showed three clusters containing only alleles associated with susceptibility to FCoV shedding, homozygotes and heterozygotes for the susceptibility alleles, and all three genotypes, respectively. Each cluster contained cats of multiple breeds. Three clusters of haplotypes were identified by PCoA, two clusters by STRUCTURE. Haplotypes of a single gene (SNX5) differed significantly between the PCoA clusters

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We aimed to analyze 219 genes in 1333 Czech OC patients and 2278 population-matched controls using next-generation sequencing. We revealed germline mutations in 18 OC/BC predisposition genes in 32.0% of patients and in 2.5% of controls. Mutations in BRCA1/BRCA2, RAD51C/RAD51D, BARD1, and mismatch repair genes conferred high OC risk (OR > 5). Mutations in BRIP1 and NBN were associated with moderate risk (both OR = 3.5). BRCA1/2 mutations dominated in almost all clinicopathological subgroups including sporadic borderline tumors of ovary (BTO). Analysis of remaining 201 genes revealed somatic mosaics in PPM1D and germline mutations in SHPRH and NAT1 associating with a high/moderate OC risk significantly; however, further studies are warranted to delineate their contribution to OC development in other populations. Our findings demonstrate the high proportion of patients with hereditary OC in Slavic population justifying genetic testing in all patients with OC, including BTO

ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk in heterozygous carriers