Sobrecarga laboral en el personal de enfermería

Este problema se plantea, en base a la situación que viene ocurriendo a lo largo de los años 2008, 2009 y 2010, en el Sanatorio y Clínica Rivadavia de la ciudad de San Luis. Las enfermeras del sector de adulto de esta institución, sufren una sobrecarga laboral en cuanto al número de pacientes que deben atender, desde 15,18 y hasta 20 pacientes con diferentes patologías y cirugías. El número de enfermeras por guardia, es el mínimo, no el indispensable, teniendo en cuenta la cantidad de pacientes con que se trabaja. Si se ausenta una enfermera por algún motivo, los cuales generalmente están relacionados con diferentes enfermedades, no hay remplazo para la misma, las enfermeras no quieren hacer recargos por cansancio físico y en varias ocasiones dos enfermeras se han tenido que hacer cargo de todo el sector adulto, incluida la guardia. A su vez, se ven obligadas a realizar algunas tareas que no les corresponden, como llevar los pedidos médicos al laboratorio, rayos o camillar, por órdenes de los directivos. Durante los años 2008 y 2010 se han presentado una serie de renuncias en el personal de enfermería de esta institución. El personal renunciante tienen edades que van desde los 22 a los 40 años aproximadamente, y con una antigüedad laboral de 2 a 5 años. Estas personas fueron contratadas previamente a sus renuncias, para diferentes sectores del subsistema público. A consecuencia de estas renuncias, el personal con el que contaban había disminuido notablemente, la exigencia de la empresa era mayor y los directivos tardaban en contratar nuevo personal. Todo lo mencionado precedentemente indica que existe una problemática que afecta al personal de enfermería y que se supone podría estar relacionada con la sobrecarga laboral que a diario vivencian las enfermeras y que merece ser considerado para buscar soluciones a la misma.Fil: Aguilera, Carina Raquel. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Escuela de Enfermería..Fil: Vargas, Cinthia Lorena. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Escuela de Enfermería.

Diseño e Implementación de un Sistema Contable en la MIPYME de Calzado SAM – LOP ubicada en el Municipio de Estelí durante segundo trimestre del año 2014

Se decidió abordar la temática de de un sistema contable en la MIPYME Calzado Sam-Lop, ya que se analizaron las problemáticas existentes en dicha empresa, mirando así la necesidad y el interés por aplicar la contabilidad con respecto a la transformación del cuero y sus derivados, por parte del propietario, ya que trabajan de forma empírica, dándole uso a los conocimientos que tienen. Los cálculos de sus costos de materia prima, mano de obra, y la depreciación de maquinaria no son registrados y aplicados a los artículos elaborados. El negocio mejorará durante transcurra el tiempo y se obtendrá un mayor crecimiento en el mercado nacional y se introducirá en el mercado internacional al implementar un sistema contable. El desarrollo de este tema permitirá conocer la manera de cómo registren sus gastos, costos, inversiones, fuentes de funcionamiento y las utilidades y/o pérdida. Según la información que se obtenga se podrá diseñar el sistema contable que les permitirá mantener sus registros adecuados según la actividad de la empresa y la forma más adecuada para aplicar las leyes que rigen a un negocio con fines lucrativos como son los impuestos en la DGI y Alcaldía Municipal y aplicación del código del trabajo. La realización de esta investigación será de beneficio para su propietario, pues contará con una base para el mejoramiento de la toma de decisiones en donde reducirá los costos y maximizará las ganancias con una certeza más razonable, contando con una contabilidad formal. También los beneficios que obtendrá en el presente y en un futuro con respecto a sus proveedores cuando éstos les soliciten información actualizada sobre su situación financiera, para algún desembolso mayor a los que ya han recibido. La presente investigación, servirá de referencia a los maestros como fuente de información, al público en general

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Síndrome de Angelman; FenotipoSíndrome d'Angelman; FenotipAngelman syndrome; PhenotypeAngelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10–15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.This work is supported by Instituto de Salud Carlos III (MG, PI16/01411), Asociación Española de Síndrome de Angelman (EG), Institut d’investigació i innovació Parc Taulí I3PT (CA, CIR2016/025, CIR2018/021) and Ministerio de Economía y Competitividad (XD, SAF2016-14 80255-R). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Background Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other allele.Case presentation We report here a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5'UTR upstream region and exons 1 and 2 of the FXN gene by MLPA.Conclusions With this case, we want to raise awareness about the potentially higher prevalence of intragenic deletions and underline the essential role of parental sample testing in providing accurate genetic counselling

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Introduction: TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked by the identification of both a previously unreported and a rarely encountered TULP1 variant. Methods: Whole-exome sequencing was performed to identify potential causative variants. The pathogenicity of the identified TULP1 variants was evaluated through in silico predictors and a minigene splice assay, specifically designed to assess the effect of the unreported TULP1 variant. Results: We identified two TULP1 gene variants in a patient exhibiting unusual and symmetrical alterations in both retinas, characterized by an increase in autofluorescence along the distribution of retinal vessels. These variants included a known rare missense variant, c.1376T>C, and a novel splice site variant, c.822G>T. For the latter variant (c.822G>T), we conducted a minigene splice assay that demonstrated the incorporation of a premature stop codon. This finding suggests a likely activation of the nonsense-mediated mRNA decay mechanism, ultimately resulting in the absence of protein production from this allele. Segregation analysis confirmed that these variants were in trans. Discussion: Our data support that individuals with biallelic TULP1 variants may present with a unique pattern of macular degeneration and periarteriolar vascular pigmentation. This study highlights the importance of further clinical and molecular characterization of TULP1 variants to elucidate genotype-phenotype correlations in the context of inherited retinal dystrophies

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Background Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phenotypic features include pre- and postnatal short stature, small hands and feet, muscular hypotonia, motor delay, feeding difficulties, weight gain, premature puberty along and precocious puberty. Methods An exon array comparative genomic hybridization was performed on a patient affected by psychomotor and language delay, muscular hypotonia, relative macrocephaly, and small hand and feet at two years old. At 6 years of age, the proband presented with precocious thelarche. Genes dosage and methylation within the 14q32 region were analyzed by MS-MLPA. Bisulfite PCR and pyrosequencing were employed to quantification methylation at the four known imprinted differentially methylated regions (DMR) within the 14q32 domain: DLK1 DMR, IG-DMR, MEG3 DMR and MEG8 DMR. Results The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. Relative hypermethylation of the two maternally methylated intervals, DLK1 and MEG8 DMRs, was observed along with normal methylation level at IG-DMR and MEG3 DMR, resulting in a phenotype consistent with TS14. Additional family members with the deletion showed modest methylation changes at both the DLK1 and MEG8 DMRs consistent with parental transmission. Conclusion We describe a girl with clinical presentation suggestive of Temple syndrome resulting from a small paternal 14q32 deletion that led to DLK1 whole-gene deletion, as well as hypermethylation of the maternally methylated DLK1-DMR

New genetic drivers in hemorrhagic hereditary telangiectasia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. Importantly, the genetic cause of 8% of patients with clinical HHT remains unknown. Here, we present new putative genetic drivers of HHT. Methods: To identify new HHT genetic drivers, we performed exome sequencing of 19 HHT patients and relatives with unknown HHT genetic etiology. We applied a multistep filtration strategy to catalog deleterious variants and prioritize gene candidates based on their known relevance in endothelial cell biology. Additionally, we performed in vitro validation of one of the identified variants. Results: We identified variants in the INHA, HIF1A, JAK2, DNM2, POSTN, ANGPTL4, FOXO1 and SMAD6 genes as putative drivers in HHT. We have identified the SMAD6 p.(Glu407Lys) variant in one of the families; this is a loss-of-function variant leading to the activation of the BMP/TGFβ signaling in endothelial cells. Conclusions: Variants in these genes should be considered for genetic testing in patients with HHT phenotype and negative for ACVRL1/ENG mutations

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome : case report and review of the literature

Altres ajuts: The financial support for carrying out this work was received from Fundació Parc Taulí- Institut d'Investigació i Innovació Parc Taulí I3PT (CIR2015/040), Asociación Española de Síndrome de Angelman [...].Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11.2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel UBE3A intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the UBE3A deletion in the two patients. A review of the clinical features of previously reported patients with whole UBE3A gene or partial intragenic deletions is presented here together with these two new patients. Although rare, UBE3A intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for UBE3A intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the UBE3A gene

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked by the identification of both a previously unreported and a rarely encountered TULP1 variant.Methods: Whole-exome sequencing was performed to identify potential causative variants. The pathogenicity of the identified TULP1 variants was evaluated through in silico predictors and a minigene splice assay, specifically designed to assess the effect of the unreported TULP1 variant.Results: We identified two TULP1 gene variants in a patient exhibiting unusual and symmetrical alterations in both retinas, characterized by an increase in autofluorescence along the distribution of retinal vessels. These variants included a known rare missense variant, c.1376T>C, and a novel splice site variant, c.822G>T. For the latter variant (c.822G>T), we conducted a minigene splice assay that demonstrated the incorporation of a premature stop codon. This finding suggests a likely activation of the nonsense-mediated mRNA decay mechanism, ultimately resulting in the absence of protein production from this allele. Segregation analysis confirmed that these variants were in trans.Discussion: Our data support that individuals with biallelic TULP1 variants may present with a unique pattern of macular degeneration and periarteriolar vascular pigmentation. This study highlights the importance of further clinical and molecular characterization of TULP1 variants to elucidate genotype–phenotype correlations in the context of inherited retinal dystrophies

Resultados da participação do Paraguai no estudo nutritionDay 2021

Each year, nutritionDay (nDay) provides de opportunity to analyze the intention to optimize nutritional and metabolic support and compare results with those obtained in the region and in the world. The aim of this study is to present the most relevant results of nDay in inpatient hospital wards and Intensive Care Units in 2021.El nutritionDay (nDay) ayuda a analizar cada año la intención de optimizar el soporte nutricional y metabólico, y comparar los resultados con los obtenidos en la región y en el mundo. El objetivo de este estudio es presentar los resultados más relevantes del nDay en las salas de internación de hospitales y unidades de cuidados intensivos (UCI) en 2021.O nutritionDay (nDay) ajuda a analisar a cada ano a intenção de otimizar o suporte nutricional e metabólico e comparar os resultados com os obtidos na região e no mundo. O objetivo deste estudo é apresentar os resultados mais relevantes do nDay nas unidades de internação hospitalar e unidades de terapia intensiva (UTI) em 2021