Diagnóstico genético de la hipoacusia neurosensorial infantil / Genetic diagnosis of childhood sensorineural hearing loss

Introducción: La hipoacusia neurosensorial (HNS) congénita o de inicio precoz es una de las enfermedades hereditarias más frecuentes en nuestro medio y es la deficiencia sensorial más frecuente. Es importante realizar un estudio etiológico de la hipoacusia y el estudio genético mediante la secuenciación de nueva generación (NGS) es la prueba con mayor rendimiento diagnóstico. Nuestro estudio muestra los resultados genéticos obtenidos en una serie de pacientes con HNS congénita/de inicio precoz bilateral. Material y método: Se incluyeron 105 niños diagnosticados de HNS bilateral a los que se les realizó un estudio genético entre los años 2019 y 2022. El estudio genético consistió en una secuenciación masiva del exoma completo, filtrando el análisis para los genes incluidos en un panel virtual de hipoacusia con 244 genes. Resultados: Se obtuvo un diagnóstico genético en 48% (50/105) de los pacientes. Se detectaron variantes patogénicas y probablemente patogénicas en 26 genes diferentes, siendo los genes más frecuentemente afectados el gen GJB2, USH2A y STRC. De las variantes detectadas 52% (26/50) se asociaron a una hipoacusia no sindrómica, 40% (20/50) una hipoacusia sindrómica y 8% restante (4/50) se podían asociar tanto a una hipoacusia sindrómica como no sindrómica. Conclusiones: El estudio genético constituye una parte fundamental del diagnóstico etiológico de la HNS bilateral. Nuestra serie muestra que el estudio genético de la hipoacusia mediante NGS tiene un alto rendimiento diagnóstico y nos proporciona información de gran utilidad en la práctica clínica.(AU)

Introduction: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. Materials and methods: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). Results: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. Conclusions: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.(AU)

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

INTRODUCTION: The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL. MATERIALS AND METHODS: We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed. RESULTS: 24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes. CONCLUSIONS: Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.

Genetic diagnosis of childhood sensorineural hearing loss.

INTRODUCTION: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. MATERIALS AND METHODS: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). RESULTS: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. CONCLUSIONS: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.

Improving the Aerobic Capacity in Fingerlings of European Sea Bass (Dicentrarchus labrax) through Moderate and Sustained Exercise: A Metabolic Approach.

Sustained swimming induces beneficial effects on growth and energy metabolism in some fish species. However, the absence of a standardized exercise regimen that guarantees an optimal response to physical activity is due to the anatomical, behavioral, and physiological differences among species, and the different conditions of tests applied, which are especially notable for the early stages of cultured species. The objective of this study was to assess the growth and metabolic responses of European sea bass submitted to continuous and moderate exercise exposure, selecting a practical swimming speed from swimming tests of groups of five fingerlings. The exercise-effects trial was carried out with 600 sea bass fingerlings (3-5 g body weight) distributed in two groups (control: voluntary swimming; exercised: under sustained swimming at 1.5 body lengths·s-1). After 6 weeks, growth parameters and proximal composition of both muscles were not altered by sustained swimming, but an increased synthetic capacity (increased RNA/DNA ratio) and more efficient use of proteins (decreased ΔN15) were observed in white muscle. The gene expression of mitochondrial proteins in white and red muscle was not affected by exercise, except for ucp3, which increased. The increase of UCP3 and Cox4 protein expression, as well as the higher COX/CS ratio of enzyme activity in white muscle, pointed out an enhanced oxidative capacity in this tissue during sustained swimming. In the protein expression of red muscle, only CS increased. All these metabolic adaptations to sustained exercise were also reflected in an enhanced maximum metabolic rate (MMR) with higher aerobic scope (AMS) of exercised fish in comparison to the non-trained fish, during a swimming test. These results demonstrated that moderate sustained swimming applied to sea bass fingerlings can improve the physical fitness of individuals through the enhancement of their aerobic capacities.

Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

BACKGROUND: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) presents an unpredictable and uneven clinical development of cerebellar ataxia, neuropathy, and vestibular areflexia. The aim of this study is to report the variability of vestibular test results in genetically confirmed patients with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. METHODS: Caloric testing, video head impulse test (vHIT), and rotatory chair testing were performed in 7 patients who presented pathogenic repeat expansions in the replication factor complex unit 1 gene related to cerebellar ataxia, neuropathy, and vestibular areflexia syndrome. RESULTS: Reduced vestibulo-ocular reflex (VOR) gain was observed in 100% of the patients in rotatory chair testing. Three of them had bilateral areflexia in caloric testing while 2 showed unilateral hypofunction and 2 had no alterations in the test. Only 1 patient had bilateral abnormal vHIT with gains under 0.6 in both ears. CONCLUSION: Genetic testing allows an early diagnosis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, whereby the vestibular system may be affected to different degrees. Rotatory chair testing has a higher sensitivity for the detection of vestibular hypofunction in these patients. Caloric testing can provide additional information. vHIT might underdiagnose patients with mild-to-moderate vestibulopathy.

Cysteamine improves growth and the GH/IGF axis in gilthead sea bream (Sparus aurata): in vivo and in vitro approaches.

Aquaculture is the fastest-growing food production sector and nowadays provides more food than extractive fishing. Studies focused on the understanding of how teleost growth is regulated are essential to improve fish production. Cysteamine (CSH) is a novel feed additive that can improve growth through the modulation of the GH/IGF axis; however, the underlying mechanisms and the interaction between tissues are not well understood. This study aimed to investigate the effects of CSH inclusion in diets at 1.65 g/kg of feed for 9 weeks and 1.65 g/kg or 3.3 g/kg for 9 weeks more, on growth performance and the GH/IGF-1 axis in plasma, liver, stomach, and white muscle in gilthead sea bream (Sparus aurata) fingerlings (1.8 ± 0.03 g) and juveniles (14.46 ± 0.68 g). Additionally, the effects of CSH stimulation in primary cultured muscle cells for 4 days on cell viability and GH/IGF axis relative gene expression were evaluated. Results showed that CSH-1.65 improved growth performance by 16% and 26.7% after 9 and 18 weeks, respectively, while CSH-3.3 improved 32.3% after 18 weeks compared to control diet (0 g/kg). However, no significant differences were found between both experimental doses. CSH reduced the plasma levels of GH after 18 weeks and increased the IGF-1 ones after 9 and 18 weeks. Gene expression analysis revealed a significant upregulation of the ghr-1, different igf-1 splice variants, igf-2 and the downregulation of the igf-1ra and b, depending on the tissue and dose. Myocytes stimulated with 200 µM of CSH showed higher cell viability and mRNA levels of ghr1, igf-1b, igf-2 and igf-1rb compared to control (0 µM) in a similar way to white muscle. Overall, CSH improves growth and modulates the GH/IGF-1 axis in vivo and in vitro toward an anabolic status through different synergic ways, revealing CSH as a feasible candidate to be included in fish feed.

Muscle regeneration in gilthead sea bream: Implications of endocrine and local regulatory factors and the crosstalk with bone.

Fish muscle regeneration is still a poorly known process. In the present study, an injury was done into the left anterior epaxial skeletal muscle of seventy 15 g gilthead sea bream (Sparus aurata) juveniles to evaluate at days 0, 1, 2, 4, 8, 16 and 30 post-wound, the expression of several muscle genes. Moreover, transcripts' expression in the bone (uninjured tissue) was also analyzed. Histology of the muscle showed the presence of dead tissue the first day after injury and how the damaged fibers were removed and replaced by new muscle fibers by day 16 that kept growing up to day 30. Gene expression results showed in muscle an early upregulation of igf-2 and a downregulation of ghr-1 and igf-1. Proteolytic systems expression increased with capn2 and ctsl peaking at 1 and 2 days post-injury, respectively and mafbx at day 8. A pattern of expression that fitted well with active myogenesis progression 16 days after the injury was then observed, with the recovery of igf-1, pax7, cmet, and cav1 expression; and later on, that of cav3 as well. Furthermore, the first days post-injury, the cytokines il-6 and il-15 were also upregulated confirming the tissue inflammation, while tnfα was only upregulated at days 16 and 30 to induce satellite cells recruitment; overall suggesting a possible role for these molecules as myokines. The results of the bone transcripts showed an upregulation first, of bmp2 and ctsk at days 1 and 2, respectively; then, ogn1 and ocn peaked at day 4 in parallel to mstn2 downregulation, and runx2 and ogn2 increased after 8 days of muscle injury, suggesting a possible tissue crosstalk during the regenerative process. Overall, the present model allows studying the sequential involvement of different regulatory molecules during muscle regeneration, as well as the potential relationship between muscle and other tissues such as bone to control musculoskeletal development and growth, pointing out an interesting new line of research in this group of vertebrates.

Clinical and epidemiological features of tuberculosis isolated from critically ill patients / Tuberculosis en la unidad de cuidados intensivos: características clínicas y epidemiológicas

Human tuberculosis is still a major world health concern. In Uruguay, contrary to the world trend, an increase in cases has been observed since 2006. Although the incidence of MDR-resistant strains is low and no cases of XDR-TB were registered, an increase in the number of patients with severe tuberculosis requiring critical care admission was observed. As a first aim, we performed the analysis of the genetic structure of strains isolated from patients with severe tuberculosis admitted to an intensive care unit. We compared these results with those corresponding to the general population observing a statistically significant increase in the Haarlem genotypes among ICU patients (53.3% vs 34.7%; p;<;0.05). In addition, we investigated the association of clinical outcomes with the genotype observing a major incidence of hepatic dysfunctions among patients infected with the Haarlem strain (p;<;0.05). The cohort presented is one of the largest studied series of critically ill patients with tuberculosis.

La tuberculosis (TB) aún representa un problema mayor de salud pública. En Uruguay, contrariamente a la tendencia mundial, se ha observado un incremento en el número de casos desde 2006. Aunque la incidencia de casos de multidrogorresistencia (MDR) es baja y no se han reportados casos de resistencia a fármacos de primera y segunda línea de tratamiento (XDR), se ha observado un incremento en el número de casos con TB grave, que requieren internación en unidad de terapia intensiva (CTI). Como primer objetivo del presente trabajo, se analizó la estructura genética de cepas de Mycobacterium tuberculosis aisladas de pacientes internados en CTI. Comparamos estos resultados con los obtenidos con cepas circulantes en la comunidad. Observamos un incremento estadísticamente significativo del genotipo Haarlem en los pacientes internados en CTI (53,3 vs. 34,7%; p;<;0,05). Además, investigamos la asociación del desenlace clínico con el genotipo, y encontramos una mayor incidencia de disfunción hepática en los pacientes infectados con la cepa Haarlem (p;<;0,05). La cohorte presentada en este trabajo corresponde a una de las series con mayor número de pacientes con tuberculosis que requirieron internación en CTI.

Mitochondrial Adaptation to Diet and Swimming Activity in Gilthead Seabream: Improved Nutritional Efficiency.

Sustained exercise promotes growth in different fish species, and in gilthead seabream we have demonstrated that it improves nutrient use efficiency. This study assesses for differences in growth rate, tissue composition and energy metabolism in gilthead seabream juveniles fed two diets: high-protein (HP; 54% protein, 15% lipid) or high energy (HE; 50% protein, 20% lipid), under voluntary swimming (VS) or moderate-to-low-intensity sustained swimming (SS) for 6 weeks. HE fed fish under VS conditions showed lower body weight and higher muscle lipid content than HP fed fish, but no differences between the two groups were observed under SS conditions. Irrespective of the swimming regime, the white muscle stable isotopes profile of the HE group revealed increased nitrogen and carbon turnovers. Nitrogen fractionation increased in the HP fed fish under SS, indicating enhanced dietary protein oxidation. Hepatic gene expression markers of energy metabolism and mitochondrial biogenesis showed clear differences between the two diets under VS: a significant shift in the COX/CS ratio, modifications in UCPs, and downregulation of PGC1a in the HE-fed fish. Swimming induced mitochondrial remodeling through upregulation of fusion and fission markers, and removing almost all the differences observed under VS. In the HE-fed fish, white skeletal muscle benefited from the increased energy demand, amending the oxidative uncoupling produced under the VS condition by an excess of lipids and the pro-fission state observed in mitochondria. Contrarily, red muscle revealed more tolerant to the energy content of the HE diet, even under VS conditions, with higher expression of oxidative enzymes (COX and CS) without any sign of mitochondrial stress or mitochondrial biogenesis induction. Furthermore, this tissue had enough plasticity to shift its metabolism under higher energy demand (SS), again equalizing the differences observed between diets under VS condition. Globally, the balance between dietary nutrients affects mitochondrial regulation due to their use as energy fuels, but exercise corrects imbalances allowing practical diets with lower protein and higher lipid content without detrimental effects.

Characterization and mitigation of gene expression burden in mammalian cells.

Despite recent advances in circuit engineering, the design of genetic networks in mammalian cells is still painstakingly slow and fraught with inexplicable failures. Here, we demonstrate that transiently expressed genes in mammalian cells compete for limited transcriptional and translational resources. This competition results in the coupling of otherwise independent exogenous and endogenous genes, creating a divergence between intended and actual function. Guided by a resource-aware mathematical model, we identify and engineer natural and synthetic miRNA-based incoherent feedforward loop (iFFL) circuits that mitigate gene expression burden. The implementation of these circuits features the use of endogenous miRNAs as elementary components of the engineered iFFL device, a versatile hybrid design that allows burden mitigation to be achieved across different cell-lines with minimal resource requirements. This study establishes the foundations for context-aware prediction and improvement of in vivo synthetic circuit performance, paving the way towards more rational synthetic construct design in mammalian cells.

Microarray-Based Quality Assessment as a Supporting Criterion for de novo Transcriptome Assembly Selection.

RNA-Sequencing and de novo assembly have enabled the analysis of species with non-available reference transcriptomes, although intrinsic features (biological and technical) induce errors in the reconstruction. A strategy to resolve these errors consists of varying assembling process parameters to generate multiple reconstructions. However, the best assembly selection remains a challenge. Quantitative metrics for quality assessment have been inconsistent when compared with pertinent references. In this paper, a criterion for supporting assembly selection based on mapping DNA microarray hybridized probes to assembly sets is proposed. Mouse and fruit fly RNA-Seq datasets were assembled with standard de novo procedures. Quality assessment was estimated using quantitative metrics and the proposed criterion. The assembly that best mapped to the available reference transcriptomes of these model species provided the highest quality assembly. The hybridized probes identified the best assemblies, whereas quantitative metrics remained inconsistent. For example, subtle probe mapping difference of 0.25 percent, but statistically significant (ANOVA, p < 0.05), enabled the assembly selection that led to identify 3,719 more contigs and led to 1,049 further mapped contigs to the mouse reference transcriptome. The microarray data availability for non-model species makes the proposed criterion suitable for quality assessment of multiple de novo assembly strategies.

Major depressive disorder in Mexican medical students and associated factors: A focus on current and past abuse experiences.

BACKGROUND: Major depressive disorder (MDD) is highly prevalent among medical students (MS). Abuse experiences, as well as stress, are among the factors associated with MDD. However, their association with MDD in MS has been scarcely addressed. METHODS: A cross-sectional study design was used to evaluate the association between MDD and possible risk factors, focusing on current and past abuse experiences inside and outside the academic setting in a large representative MS sample (n = 1,068) using self-report instruments to assess MDD (PHQ-9) and perceived academic stress levels during exam season. RESULTS: Depressive symptom severity directly correlates with levels of perceived academic stress. The prevalence of MDD was 16.2%. A history of emotional abuse during childhood or adolescence, as well as most types of current abuse were associated with MDD. Multiple logistic regression analysis showed that current emotional abuse outside school had the strongest association with MDD in MS, followed by a personal history of depression and suicide attempt, a family history of depression, and perceived academic stress levels. LIMITATIONS: Cross-sectional design, participants represent a specific population, and other variables that could be associated with MDD: comorbid psychiatric disorders, current antidepressant treatment and protective factors (resilience and health-promoting coping strategies) were not evaluated. CONCLUSIONS: MDD is strongly associated with several risk factors that include most types of current and past abuse experiences. Timely identification of individuals at-risk will be critical to establish preventive strategies to limit the impact of MDD in MS and offer prompt therapeutic alternatives when needed.

Perinatal outcomes of pregnancies after homologous artificial insemination a comparison with spontaneous pregnancies / Resultados perinatales de embarazos tras inseminación artificial homóloga frente a embarazos espontáneos

Objective: To establish the association between ovarian stimulation followed by intrauterine insemination and the appearance of major congenital abnormalities and to study infertility as a risk factor. Materials and methods: We performed a retrospective single-center cohort study of 209 patients who gave birth at our center. The patients were classified into 3 groups: 44 patients who received treatment, 22 nontreated infertile women, and 143 nontreated fertile women. Results: Congenital malformation rates were higher in treated infertile women, as was the relative risk (RR) after comparison with nontreated patients taken as single group (RR, 2.81; 95%CI, 1.02-9.46). Nontreated infertile patients did not have an increased RR with respect to nontreated fertile women (RR, 0.88; 95%CI, 0.11-7.9). Logistic regression showed statistically significant differences when treated infertile patients were compared with all nontreated patients taken as a single group (p = 0.048), with a greater risk of major malformations observed in the first group; however, statistical significance was not reached when nontreated fertile women were used as a control group (p = 0.057). As for the remaining variables analyzed, statistical significance was only found for the risk of congenital malformations associated with a body mass index higher than the median (22). Conclusions: There is a statistically significant higher risk (p = 0.048) in infertile treated patients in relation to nontreated patients taken as a group. When treated patients were compared with nontreated fertile patients, the relative risk did not reach statistical significance, probably on account of the small sample size. Consequently, further studies with a larger sample size are needed

Objetivo: analizar la asociación entre la estimulación ovárica seguida de inseminación intrauterina y la aparición de malformaciones mayores, así como la infertilidad como factor de riesgo para malformaciones. Materiales y métodos: se trata de un estudio de cohortes retrospectivo unicéntrico en el que se incluyeron 209 gestantes con parto en este centro. Fueron clasificadas en tres grupos, 44 expuestas a estimulación ovárica e inseminación intrauterina, 22 estériles no expuestas a tratamiento y 143 sanas no expuestas. Resultados: las tasas de malformaciones fueron mayores en estériles expuestas, así como el riesgo relativo respecto a las no expuestas en conjunto [riesgo relativo 2,81; IC95% (1,02-9,46)]. Las pacientes estériles no expuestas no presentaron un aumento del riesgo relativo respecto a las sanas no expuestas [riesgo relativo 0,88; IC95% (0,11-7,9)]. La regresión logística mostró diferencias significativas al enfrentar a las estériles expuestas con los dos grupos no expuestos en conjunto (p = 0,048) con mayor riesgo de malformación mayor en las primeras pero no llegó a la significación si como grupo control se empleaban exclusivamente las pacientes sanas no expuestas (p = 0,057). Respecto al resto de variables estudiadas, únicamente fue significativo para el riesgo de malformaciones congénitas el índice de masa corporal mayor de la mediana (22). Conclusiones: existe un riesgo mayor con significación estadística (p = 0,048) en las expuestas respecto a las pacientes no expuestas en conjunto. Al enfrentar a las pacientes expuestas frente a las fértiles no expuestas, el riesgo no alcanzó significación estadística, probablemente por el escaso número muestral, lo que indica que son necesarios estudios con mayor número de pacientes

Study of variables related to multiple pregnancy in cycles of ovarian Stimulation / Estudio de las variables relacionadas con el embarazo múltiple en ciclos de estimulación ovárica

Introduction: This paper analyzes cycles of ovarian stimulation followed by intrauterine insemination or timed intercourse that resulted in pregnancy. Our objective was to identify characteristics of the patient or ovarian response that are associated with multiple pregnancy. Material and methods: We performed a descriptive retrospective observational study of 261 cycles where pregnancy was achieved by intrauterine insemination or timed intercourse. The sample was obtained from 1,189 infertile couples treated from January 2009 to December 2014. We evaluated features that were potentially associated with multiple pregnancy and dependent on the patient, treatment, and ovarian response. Results: Of all the pregnancies analyzed, 88.9% were singleton and 11.1% multiple (8.4% twins, 2.7% triplet). In the multiple pregnancy group, the average number of intermediate follicles (14-16 mm), follicles measuring ≥ 17 mm, and the total number of follicles on the day human chorionic gonadotropin was administered were higher than for the singleton pregnancy group (p < 0.05). We found no correlation between multiple pregnancy and age, type and diagnosis of infertility, drug used for stimulation, initial and total dose of gonadotropin, number of treatment cycles, and motile sperm count. Conclusions: This study confirms the association between multiple births and increased number of follicles. When follicles were classified by size and multiple pregnancy as twin and triplet, we found that intermediate follicles were significantly associated with twin pregnancy. Consequently, they must be taken into account when deciding to cancel a cycle in order to try to reduce the risk of multiple pregnancy

Introducción: este trabajo analiza los ciclos de estimulación ovárica seguidos de inseminación intrauterina o coito programado que lograron embarazo. El objetivo es identificar las características de la paciente o de la respuesta ovárica asociadas con el embarazo múltiple. Material y métodos: es un estudio observacional retrospectivo descriptivo. Incluye 261 ciclos en los que se ha conseguido embarazo mediante inseminación intrauterina o coito programado. La muestra se ha obtenido de 1.189 parejas infértiles tratadas de enero de 2009 a diciembre de 2014. Se evalúan características potencialmente asociadas con el embarazo múltiple dependientes de la paciente, del tratamiento aplicado y de la respuesta ovárica. Resultados: el 88,9% de los embarazos fueron únicos y el 11,1%, múltiples (8,4% gemelares, 2,7% triples). En el grupo de embarazo múltiple, la media de folículos intermedios (14-16 mm), los folículos con una media de ≥ 17 mm y el total de folículos el día de la gonadotropina coriónica humana fueron mayores respecto al grupo de embarazo único (p < 0,05). No hemos hallado correlación entre embarazo múltiple y edad de la paciente, tipo y diagnóstico de esterilidad, fármaco utilizado en la estimulación, dosis inicial y total de gonadotropina, número de ciclos de tratamiento y recuento de espermatozoides móviles postcapacitación. Conclusiones: este estudio confirma la asociación entre embarazo múltiple y mayor número de folículos. Desglosando los folículos por su tamaño y el embarazo múltiple en gemelar y triple, los folículos intermedios se asocian significativamente a embarazo gemelar, por lo que deben ser tenidos en cuenta en la decisión de cancelación para intentar disminuir el riesgo de embarazo múltiple

Single-cell characterization of metabolic switching in the sugar phosphotransferase system of Escherichia coli.

The utilization of several sugars in Escherichia coli is regulated by the Phosphotransferase System (PTS), in which diverse sugar utilization modules compete for phosphoryl flux from the general PTS proteins. Existing theoretical work predicts a winner-take-all outcome when this flux limits carbon uptake. To date, no experimental work has interrogated competing PTS uptake modules with single-cell resolution. Using time-lapse microscopy in perfused microchannels, we analyzed the competition between N-acetyl-glucosamine and sorbitol, as representative PTS sugars, by measuring both the expression of their utilization systems and the concomitant impact of sugar utilization on growth rates. We find two distinct regimes: hierarchical usage of the carbohydrates, and co-expression of the genes for both systems. Simulations of a mathematical model incorporating asymmetric sugar quality reproduce our metabolic phase diagram, indicating that under conditions of nonlimiting phosphate flux, co-expression is due to uncoupling of both sugar utilization systems. Our model reproduces hierarchical winner-take-all behaviour and stochastic co-expression, and predicts the switching between both strategies as a function of available phosphate flux. Hence, experiments and theory both suggest that PTS sugar utilization involves not only switching between the sugars utilized but also switching of utilization strategies to accommodate prevailing environmental conditions.

Intervenciones eficaces para reducir el absentismo del personal de enfermería hospitalario / Effective interventions to reduce absenteeism among hospital nurses

Objetivo: El objetivo del presente trabajo es seleccionar y sintetizar las intervenciones que han demostrado ser efectivas para reducir el absentismo de enfermería hospitalaria. Métodos: Revisión de tipo scoping review mediante búsqueda bibliográfica en las bases de datos Medline, Web of Science, Cinahl, Embase, Lilacs, Cuiden y Cochrane Library Plus. De un total de 361 textos extraídos, finalmente se seleccionaron 15 estudios para esta revisión. Resultados: La implementación de programas de soporte o entrenamiento físico multifacéticos puede producir resultados positivos en cuanto a la reducción del absentismo de enfermería hospitalaria. Las intervenciones de tipo cognitivo-conductual requieren el desarrollo de estudios con muestras más amplias para ofrecer resultados concluyentes. El establecimiento de sistemas de turnos más flexibles también puede reducir las tasas de ausencia, si bien de nuevo se necesitan estudios con muestras más numerosas. Los programas tendentes a la gestión del cambio desarrollados por la propia enfermería, la gestión participativa de las relaciones profesionales, el soporte proporcionado por los supervisores opuestos a estilos de liderazgo de tipo jerárquico y las remuneraciones que premian la falta de ausencias también pueden conseguir disminuciones en este tipo de indicadores. Conclusiones: El absentismo puede considerarse como un resultado final y una consecuencia del grado de satisfacción de los/las profesionales, y seguramente las intervenciones efectivas para disminuir el absentismo de enfermería hospitalaria lo son porque aumentan la satisfacción laboral de estos/as trabajadores/as (AU)

Objectives: To select and summarize the interventions that have proved effective in reducing absenteeism among hospital nurses. Methods: A scoping review was conducted through a literature search using Medline, Web of Science, Cinahl, Embase, Lilacs, Cuiden and Cochrane Library Plus databases. Of a total of 361 articles extracted, 15 were finally selected for this review. Results: The implementation of multifaceted support or physical training programs can produce positive results in terms of reducing absenteeism among hospital nurses. Cognitive-behavioral type interventions require studies with larger samples to provide conclusive results. Establishing more flexible working shifts may also reduce absenteeism rates, although again studies with larger samples are needed. Programs aimed at managing change developed by nurses themselves, participatory management of professional relations, the support provided by supervisors who are opposed to hierarchical leadership styles, and wage supplements that reward the lack of absence can also reduce these types of indicators. Conclusions: Absenteeism can be considered as a final result and a consequence of the level of job satisfaction. The effectiveness of interventions to reduce absenteeism among hospital nurses will no doubt largely depend on the ability of these interventions to increase the job satisfaction of these workers (AU)

Las experiencias de las personas mayores que viven en hogares para ancianos: la teoría de las "diadas de intercambio" / The Experiences of Older People Living in Nursing Homes: the Theory of "Exchange Dyads" / As experiências das pessoas idosas que vivem em casas de repousos: a teoria das "trocas diádicas"

Objetivo: estudiar las experiencias vitales y el proceso de adaptación social de las personas mayores que viven en hogares para ancianos. Metodología: estudio cualitativo basado en los procedimientos propios de la teoría fundamentada. El emplazamiento han sido los 6 hogares para ancianos de la comarca de la campiña sur de Córdoba, en el sur de España. Los participantes han sido 16 residentes de estos centros. La recogida de información se ha realizado a través de entrevistas en profundidad. Resultados: la categoría central que emerge de los datos se ha denominado teoría de las "díadas de intercambio": en el seno de los hogares para ancianos se establece una situación de intercambio, en la que la persona mayor cede la totalidad o parte de una serie de cualidades, obteniendo a cambio otras que son características de este tipo de instituciones. Estas cualidades que se intercambian pueden organizarse en forma de díadas, siendo la principal la cesión del poder de decisión, a cambio de la obtención de unas condiciones más óptimas de seguridad, díada a través de la cual, incluso, se puede explicar el proceso de ingreso en la institución.

Objective: To study the life experiences and the process of social adaptation of older people living in nursing homes. Method: A qualitative study based on the procedures of grounded theory. The locations were in the 6 nursing homes in a region of the countryside of Cordoba in southern Spain. The participants were 16 residents of these centers. The collection of information has been carried through in-depth interviews. Results: The main category emerging from the data is called "Exchange Dyads Theory": within nursing homes an exchange situation is established. In this one, the older person yields all or part of a series of qualities, obtaining in return other qualities that are typical of this kind of institution. These qualities that are exchanged can be organize in the form of dyads, being the most important the assignment of decision-making power for obtaining a more optimal safety conditions, dyad through which even can explain the process of admission to the institution.

Objetivo: estudar as experiências vitais e o processo de adaptação social das pessoas idosas que vivem em casas de repouso. Método: estudo qualitativo baseado nos procedimentos próprios da teoria fundamentada. Foram escolhidas seis casas de repouso da comarca da campina sul de Córdoba, no sul da Espanha. Os participantes foram 16 residentes desses centros. A coleta de informação se realizou por meio de entrevistas em profundidade. Resultados: a categoria central que emerge dos dados se denominou Teoria das "Trocas Diádicas": no seio das casas de repouso, estabelece-se uma situação de intercâmbio, na qual a pessoa idosa cede a totalidade ou parte de uma série de qualidades, obtendo em troca outras que são características desse tipo de instituições. Essas qualidades que se intercambiam podem se organizar em forma de díadas, sendo a principal cessão do poder de decisão, em troca da obtenção de umas condições melhores de segurança, díada pela qual, inclusive, pode-se explicar o processo de ingresso na instituição.

[Effective interventions to reduce absenteeism among hospital nurses]. / Intervenciones eficaces para reducir el absentismo del personal de enfermería hospitalario.

OBJECTIVES: To select and summarize the interventions that have proved effective in reducing absenteeism among hospital nurses. METHODS: A scoping review was conducted through a literature search using Medline, Web of Science, Cinahl, Embase, Lilacs, Cuiden and Cochrane Library Plus databases. Of a total of 361 articles extracted, 15 were finally selected for this review. RESULTS: The implementation of multifaceted support or physical training programs can produce positive results in terms of reducing absenteeism among hospital nurses. Cognitive-behavioral type interventions require studies with larger samples to provide conclusive results. Establishing more flexible working shifts may also reduce absenteeism rates, although again studies with larger samples are needed. Programs aimed at managing change developed by nurses themselves, participatory management of professional relations, the support provided by supervisors who are opposed to hierarchical leadership styles, and wage supplements that reward the lack of absence can also reduce these types of indicators. CONCLUSIONS: Absenteeism can be considered as a final result and a consequence of the level of job satisfaction. The effectiveness of interventions to reduce absenteeism among hospital nurses will no doubt largely depend on the ability of these interventions to increase the job satisfaction of these workers.

Relación del cuidado que demandan las personas mayores en hogares para ancianos: metaestudio cualitativo / The Care Relationship Required by Seniors in Nursing Homes: A Qualitative Meta-study / Relação do cuidado que exigem as pessoas mais velhas em lares para anciãos

Objetivo: describir que tipo de cuidados y de interacción humana demandan de sus enfermeras las personas mayores que viven en un hogar para ancianos, a partir de la síntesis y el reanálisis de los datos proporcionados por una serie de estudios primarios que han abordado la experiencia de vivir en un hogar para ancianos. Antecedentes: los estudios de tipo cualitativo que han tratado el tema de las experiencias vitales en un hogar para ancianos se han centrado en aspectos como la vida diaria, la calidad de vida, las experiencias de sufrimiento, los cuidados recibidos, la proximidad de la muerte y las relaciones personales. Materiales y métodos: metaestudio cualitativo de tipo análisis de metadatos. Las bases de datos empleadas han sido: ISI Web of Knowledge, CINAHL, EMBASE, LILACS y CUIDEN PLUS. Se han seleccionado 29 estudios. Resultados: las categorías centrales emergentes de los datos han sido: las cualidades personales demandadas al personal cuidador, las intervenciones cuidadoras, la relación personal con los cuidadores y la influencia de la relación persona mayor-cuidador en otros aspectos. Conclusión: con este trabajo hemos pretendido sintetizar las evidencias proporcionadas por una serie de investigaciones primarias tratando de proporcionar un nivel de conocimientos mayor sobre las necesidades de atención de las personas residentes en un hogar para ancianos, siempre a partir de los testimonios, las experiencias y las vivencias de los protagonistas.

Objective: The purpose of the study was to describe the type of care and human interaction required from nurses by elderly persons living in a nursing home, based on a synthesis and reanalysis of data from a number of primary studies on the experience of living in such a facility. Background: Qualitative studies on the experience of living in a nursing home have focused on aspects such as daily life, quality of life, experiences of suffering, the care received, proximity to death and personal relationships. Materials and methods: This is a qualitative meta-study based on meta-data-analysis. ISI Web of Knowledge, CINAHL, EMBASE, LILACS and CUIDEN PLUS were the databases used. Twenty-nine (29) studies were selected. Results: The emerging central data categories were: the personal qualities required of the care-giving staff, the care and attention provided, the personal relationship with caregivers, and the influence the elderly person-caregiver relationship has on other aspects. Conclusion: In synthesizing evidence from by a number of primary studies, this research attempts to provide a higher level of knowledge about the care needs of residents in a nursing home, based invariably on the testimonies, episodes and life experiences of the protagonists.

Objetivo: descrever que tipo de cuidados e de interação humana as pessoas idosas que moram em um lar para anciãos exigem de suas enfermeiras, a partir da síntese e da reanálise dos dados proporcionados por uma série de estudos primários que abordam a experiência de morar em um lar para anciãos. Antecedentes: os estudos de tipo qualitativo que tratam o tema das experiências vitais em um lar para anciãos se centram em aspectos como a vida diária, a qualidade de vida, as experiências de sofrimento, os cuidados recebidos, a proximidade da morte e as relações pessoais. Materiais e métodos: metaestudo qualitativo de tipo análise de metadados. As bases de dados empregadas foram: ISI Web of Knowledge, CINAHL, EMBASE, LILACS e CUIDEN PLUS. Foram selecionados 29 estudos. Resultados: as categorias centrais emergentes dos dados foram: as qualidades pessoais exigidas do pessoal cuidador, as intervenções cuidadoras, a relação pessoal com os cuidadores e a influência da relação pessoa idosa-cuidador em outros aspectos. Conclusão: com este trabalho pretendemos sintetizar as evidências proporcionadas por uma série de pesquisas primárias tentando proporcionar um nível de conhecimentos maior sobre as necessidades de atendimento das pessoas residentes em um lar para anciãos, sempre a partir dos testemunhos, das experiências e das vivências dos protagonistas.

Efecto de la implantación de turnos de enfermería «a demanda» sobre las horas de absentismo / Effect of the introduction of "on demand" nursing shifts on hours of absenteeism

Resumen El objetivo de esta experiencia es estudiar la influencia en el absentismo del personal de enfermería de un nuevo sistema de turnos rotatorios, con la novedad de que tanto la distribución horaria como la planificación y la adjudicación de los turnos se ha hecho según las demandas del propio personal. El lugar de realización ha sido el Hospital Infanta Margarita, de Cabra (Córdoba, España), y la implementación de los nuevos turnos fue durante el primer trimestre de 2011. De un total de 5551 horas absolutas de ausencia por semestre, se ha pasado a 3289 horas. La implantación de este nuevo sistema de turnos «a demanda» parece haber conseguido una reducción notable en el número de horas de ausencia del trabajo. Se trata de una estrategia para tratar de conciliar al máximo la jornada laboral con la vida personal y familiar (AU)

Abstract The objective of this study was to analyze the effect of the introduction of a new system of rotating shifts on nursing absenteeism. The novelty of this system is that both the time distribution and the planning and allocation of shifts is carried out according to the wishes of the participating nurses. This study was performed in the Infanta Margarita Hospital (Cordoba, Spain) and the new shift system was introduced in the first quarter of 2011. The total number of absolute hours of absence decreased from 5551 to 3289 per semester. The implementation of this new "on demand" shift system seems to have significantly reduced hours of absence. This strategy aims to reconcile nurses' working hours with their personal and family lives (AU)