Valoración clínica, epidemiológica y del diagnóstico de Enfermería del síndrome de Usher

Introduction: Usher syndrome is a heterogeneous group of hereditary diseases, which manifests itself clinically by associating sensorineural hearing loss with blindness, a fact that makes patients suffering from this disease require special nursing care.Objective: to assess the clinical, epidemiological and nursing diagnostic status of Usher syndrome in Pinar del Río between 2016 and 2018.Methods: observational, descriptive and cross-sectional research. The target group consisted of 63 patients and the sample of 55 who met the inclusion criteria. The variables analyzed were: age, gender, best corrected central visual acuity, type of sensorineural hearing loss, clinical type of Usher syndrome and nursing diagnosis.Results: 56.3 % of patients were male, 60 % of patients suffered from Usher Type II, 38.2 % presented values of central visual acuity better corrected between 0.7 -1.0, in 43.6 % of patients the sensorineural hearing loss was moderate; 100 % of cases presented as a nursing diagnosis the deterioration of the ability of movement, followed by deterioration of tissue integrity and risk of falling (85.5 %).Conclusions: male gender predominated in the assessment and the age group of 61 years and older, with better corrected central visual acuity between 0.7-1.0 and moderate sensorineural hearing loss; and the clinical type of Usher II was the most frequent, as well as the diagnosis of nursing involving impaired ability to move.Introducción: El síndrome de Usher es un heterogéneo grupo de enfermedades hereditarias, que se manifiesta clínicamente por asociar pérdida auditiva neurosensorial con la ceguera, hecho este que hace que los pacientes que lo padecen requieran de cuidados de Enfermería especiales.Objetivo: valorar clínica, epidemiológica y del diagnóstico de Enfermería con  síndrome de Usher, en Pinar del Río entre los años 2016 y 2018.Métodos: investigación observacional, descriptiva y transversal. El universo estuvo conformado por 63 pacientes y la muestra por 55 que cumplieron los criterios de inclusión. Las variables analizadas fueron: edad, sexo, agudeza visual central mejor corregida, tipo de pérdida auditiva neurosensorial, forma clínica del síndrome de Usher y diagnóstico de Enfermería.Resultados: el 56,3 % de los pacientes fueron masculinos, el 60% de los pacientes presentaron USH Tipo II, el 38,2 % presentó valores de la agudeza visual central mejor corregida entre 0,7 -1,0, en el 43,6 % de los pacientes la pérdida auditiva neurosensorial fue moderada; el 100 % de los casos presentaron como diagnóstico de Enfermería deterioro de la habilidad de traslación, seguido del deterioro de la integridad tisular y riesgo de caída (85,5 %).Conclusiones: el sexo masculino predominó en la evaluación y el grupo etario de 61 años y más, con una agudeza visual central mejor corregida entre 0,7-1,0 y una pérdida auditiva neurosensorial moderada; y la forma clínica de Usher II la más frecuente, así como el diagnóstico de Enfermería de deterioro de la habilidad de traslación

Miradas colectivas del departamento de Nariño, de los municipios de Pasto, Ricaurte y Taminango

tabla1: Descripción del proyecto elaborado por los estudiantesTeniendo en cuenta la problemática encontrada en el desarrollo del trabajo Miradas Colectivas Del Departamento De Nariño, De Los Municipios De Pasto, Ricaurte Y Taminango. de investigación, con el presente proyecto (propuesta) se pretende prevenir o disminuir el consumo de sustancias psicoactivas en los adolescentes de 25 familias pertenecientes a 5 comunidades diferentes (barrio San Vicente, barrio el Tejar, barrio Santa Mónica en Pasto Nariño; Vereda la Honda en el municipio de San Lorenzo en Nariño y Vereda Sabanetas del Municipio de Guachanè en Cauca), las cuales fueron seleccionadas para ser partícipes de esta investigación, lo anterior a partir del acompañamiento y orientación familiar que permita concientizar a los padres de familia y comunidad sobre la importancia de cuidar y educar a los hijos de forma responsable bajo un ambiente donde se practique toda clase de valores, donde se oriente y se eduque en lo relacionado con las causas y consecuencias del consumo de sustancias psicoactivas como estrategia clave para formar personas integras con capacidad para elegir. De acuerdo a los resultados que se obtuvieron dieron como resultado diferentes perspectivas en el largo del proceso de investigación llevado a cabo por el grupo de estudio 52, se logró identificar estas problemáticas que en si afectan al entorno familiar y comunidad en general, lo que ha generado constante preocupación y estrés en los padres de familia y en la comunidad al no encontrar una alternativa de solución efectiva que permita disminuir o eliminar dicho problema. Una vez analizado las diferentes propuestas pudimos evidenciar las problemáticas que se presentan en nuestra sociedad y que se vive en el día a día, son problemáticas que afectan a la familia y a diferentes contextos en donde los individuos se desenvuelven. Actualmente podemos evidenciar como la familia se va desintegrando, los padres están perdiendo la autoridad, no hay buena comunicación para la resolución de conflictos, la violencia prima en muchos hogares por tal razón los sujetos desde pequeños manifiestan conductas agresivas, otros caen en las drogas, la comunicación no asertiva al igual es una forma de violencia que maltrata, humilla y daña la autoestima. La familia como se ha mencionado anteriormente debe ser el pilar para el fortalecimiento y la buena crianza de los hijos desde que estos son pequeños en pro de mejorar la educación, el aprendizaje, las relaciones familiares, escolares y sociales, en las diferentes propuestas aquí encontradas coincidimos que la familia es y debe ser el primer ente socializador. Teniendo en cuenta estos análisis de resultados, por los cuales las estrategias lúdicas y gestión de recursos, ejecución, charlas de concientización, desarrollo de talleres, y concertación de actividades con el psicólogo en formación nos contribuyó a que las comunidades ya antes mencionadas, resultara muy benéfico para la comunidad en general ya que no solo se trabajará con los adolescentes sino también con los padres de familia quienes son los principales responsables de cuidar y educar a sus hijos, por lo tanto el desarrollo del proyecto generara un aprendizaje significativo.Taking into account the problems encountered in the development of the collective views of the Department of Nariño, the Municipalities of Pasto, Ricaurte and Taminango. This project aims to prevent or reduce the use of psychoactive substances in adolescents from 25 families belonging to 5 different communities (San Vicente neighborhood, El Tejar neighborhood, Santa Mónica neighborhood in Pasto Nariño, Vereda la Honda In the municipality of San Lorenzo in Nariño and Vereda Sabanetas of the Municipality of Guachanè in Cauca), which were selected to be participants in this investigation, the above based on the accompaniment and family orientation to raise awareness among parents and community about The importance of caring for and educating children in a responsible manner under an environment where all kinds of values ​​are practiced, where they are guided and educated in the causes and consequences of the consumption of psychoactive substances as a key strategy to form integral people with Ability to choose. According to the results obtained, they resulted in different perspectives in the length of the research process carried out by study group 52, it was possible to identify these problems that in themselves affect the family environment and community in general, which has Generated constant worry and stress in parents and in the community, because they did not find an alternative solution that would reduce or eliminate this problem. Once analyzed the different proposals we were able to show the problems that are present in our society and that are lived in the day to day, they are problematic that affect to the family and to different contexts in which the individuals develop. At the moment we can show how the family is disintegrating, the parents are losing the authority, there is no good communication for the resolution of conflicts, the violence premium in many homes for that reason the subjects from small they manifest aggressive behaviors, others they fall in the drugs, Non-assertive communication is a form of violence that mistreats, humiliates and damages self-esteem. The family as mentioned above should be the pillar for strengthening and good parenting since the children are small in order to improve education, learning, family, school and social relationships, in the different proposals found here We agree that the family is and should be the first socializing entity. Taking into account these results analyzes, through which the ludic strategies and management of resources, execution, awareness talks, workshops, and concertation of activities with the psychologist in formation contributed to the communities already mentioned above, Beneficial for the community in general as it will not only work with adolescents but also with parents who are primarily responsible for caring and educating their children, therefore the development of the project will generate significant learning

La importancia del grafismo infantil en la situación odontológica

El dibujo infantil es un medio de expresión muy importante en los niños. Si bien las características de un grafismo infantil evolucionan con su crecimiento, con el desarrollo de su psicomotricidad fina y su desarrollo cognitivo, es a través de sus dibujos que los niños expresan sentimientos, emociones, deseos y miedos. La situación odontológica causa en ellos, un conjunto de sensaciones que pueden ser manifestadas a través de su grafismo, permitiéndonos a través de su interpretación, anticiparnos a la conducta que puede tener el niño durante la consulta así como sus conocimientos sobre la odontología, para poder efectuar un abordaje efectivoFacultad de Odontologí

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Optimasi Portofolio Resiko Menggunakan Model Markowitz MVO Dikaitkan dengan Keterbatasan Manusia dalam Memprediksi Masa Depan dalam Perspektif Al-Qur`an

Risk portfolio on modern finance has become increasingly technical, requiring the use of sophisticated mathematical tools in both research and practice. Since companies cannot insure themselves completely against risk, as human incompetence in predicting the future precisely that written in Al-Quran surah Luqman verse 34, they have to manage it to yield an optimal portfolio. The objective here is to minimize the variance among all portfolios, or alternatively, to maximize expected return among all portfolios that has at least a certain expected return. Furthermore, this study focuses on optimizing risk portfolio so called Markowitz MVO (Mean-Variance Optimization). Some theoretical frameworks for analysis are arithmetic mean, geometric mean, variance, covariance, linear programming, and quadratic programming. Moreover, finding a minimum variance portfolio produces a convex quadratic programming, that is minimizing the objective function ðð¥with constraintsð ð 𥠥 ðandð´ð¥ = ð. The outcome of this research is the solution of optimal risk portofolio in some investments that could be finished smoothly using MATLAB R2007b software together with its graphic analysis

Differential cross section measurements for the production of a W boson in association with jets in proton–proton collisions at √s = 7 TeV

Measurements are reported of differential cross sections for the production of a W boson, which decays into a muon and a neutrino, in association with jets, as a function of several variables, including the transverse momenta (pT) and pseudorapidities of the four leading jets, the scalar sum of jet transverse momenta (HT), and the difference in azimuthal angle between the directions of each jet and the muon. The data sample of pp collisions at a centre-of-mass energy of 7 TeV was collected with the CMS detector at the LHC and corresponds to an integrated luminosity of 5.0 fb[superscript −1]. The measured cross sections are compared to predictions from Monte Carlo generators, MadGraph + pythia and sherpa, and to next-to-leading-order calculations from BlackHat + sherpa. The differential cross sections are found to be in agreement with the predictions, apart from the pT distributions of the leading jets at high pT values, the distributions of the HT at high-HT and low jet multiplicity, and the distribution of the difference in azimuthal angle between the leading jet and the muon at low values.United States. Dept. of EnergyNational Science Foundation (U.S.)Alfred P. Sloan Foundatio

Penilaian Kinerja Keuangan Koperasi di Kabupaten Pelalawan

This paper describe development and financial performance of cooperative in District Pelalawan among 2007 - 2008. Studies on primary and secondary cooperative in 12 sub-districts. Method in this stady use performance measuring of productivity, efficiency, growth, liquidity, and solvability of cooperative. Productivity of cooperative in Pelalawan was highly but efficiency still low. Profit and income were highly, even liquidity of cooperative very high, and solvability was good

Juxtaposing BTE and ATE – on the role of the European insurance industry in funding civil litigation

One of the ways in which legal services are financed, and indeed shaped, is through private insurance arrangement. Two contrasting types of legal expenses insurance contracts (LEI) seem to dominate in Europe: before the event (BTE) and after the event (ATE) legal expenses insurance. Notwithstanding institutional differences between different legal systems, BTE and ATE insurance arrangements may be instrumental if government policy is geared towards strengthening a market-oriented system of financing access to justice for individuals and business. At the same time, emphasizing the role of a private industry as a keeper of the gates to justice raises issues of accountability and transparency, not readily reconcilable with demands of competition. Moreover, multiple actors (clients, lawyers, courts, insurers) are involved, causing behavioural dynamics which are not easily predicted or influenced. Against this background, this paper looks into BTE and ATE arrangements by analysing the particularities of BTE and ATE arrangements currently available in some European jurisdictions and by painting a picture of their respective markets and legal contexts. This allows for some reflection on the performance of BTE and ATE providers as both financiers and keepers. Two issues emerge from the analysis that are worthy of some further reflection. Firstly, there is the problematic long-term sustainability of some ATE products. Secondly, the challenges faced by policymakers that would like to nudge consumers into voluntarily taking out BTE LEI