A large-scale in vivo screen to investigate the roles of human genes in Drosophila melanogaster.

Understanding the signaling pathways in which genes participate is essential for discovering the etiology of diseases in humans. The model organism, Drosophila melanogaster, has been crucial in understanding the signaling pathways in humans, given the evolutionary conservation of a significant number of genes between the two species. Genetic screens using Drosophila are a useful way of testing large number of genes to study their function and roles within signaling pathways. We conducted a large-scale genetic screen to identify which human genes cause an alteration in the morphology of the Drosophila eye. The GMR-Gal4 was employed to activate a single UAS-human gene in the eye tissue. In total, we screened 802 UAS-human gene stocks, corresponding to 787 human protein-coding genes, for the ability to influence eye development. We found that overexpression of 64 human genes were capable of disrupting eye development, as determined by phenotypic changes in eye texture, size, shape, bristle morphology, and ommatidia organization. Subsequent analysis revealed that the fly genome encodes proteins that are homologous to a majority of the 64 human genes, raising the possibility that overexpression of these transgenes altered eye development by altering the activity of evolutionarily conserved developmental signaling pathways. Consistent with this hypothesis, a secondary screen demonstrated that overexpression of fly homologs produced phenotypes that mimicked those produced by overexpression of the human gene. Our screening has identified 64 human genes capable of inducing phenotypes in the fly, offering a foundation for ongoing research aimed at understanding functionally conserved pathways across species.

Efficacy of the combination of water aerobics and metacognitive training on psychological and physical health variables and their relationship with SP1 and SP4 biomarkers in people with psychosis: a study protocol.

Background: Metacognitive Training (MCT) is widely used and effective in reducing positive symptoms in psychosis. Physical exercise, such as Water Aerobics (WA), improves general health, quality of life and symptoms as a low impact activity that allows social interactions. Preliminary results suggest a relationship between dopamine and psychotic symptoms, through SP transcription factors, SP1 and SP4 biomarkers. The aims of the project are to evaluate the efficacy of a combined intervention (WA and MCT) for psychosis to improve psychotic symptoms, physical health, and transcription levels of SP biomarkers. Materials and methods: This is a unicentric randomized controlled trial of three parallel intervention groups: MCT, WA and combined intervention. The estimated sample will be 48 patients with a psychotic spectrum disorder diagnosis. The assessment will be performed at baseline and at 2-months' follow-up. Instruments used in the assessment will include clinical, cognitive, metacognitive, social cognitive and psychosocial variables. Discussion: This will be the first study investigating the impact of the combination of MCT and WA in psychosis. Moreover, it will be the first study analyzing changes in the transcriptional biomarkers SP1 and SP4 after interventions. The results of this study may have clinical implications contributing to the improvement of treatment selection. Clinical trial registration: https://clinicaltrials.gov/, identifier: NCT05455593.

Probiotics in autism spectrum disorders: a systematic review of clinical studies and future directions.

CONTEXT: It is hypothesized that gut dysbiosis, a typical feature of patients with autism spectrum disorder (ASD), could be involved in the origin of this neurodevelopmental disorder. Therefore, the use of probiotics to restore gastrointestinal (GI) equilibrium might be a promising therapeutic strategy due to its capacity to balance the gut-brain axis and behavioral responses. OBJECTIVE: To summarize current knowledge on the use of probiotics to treat core clinical ASD symptoms and concomitant GI signs, compare the design of published studies with those of ongoing trials, assess the near future of this field, and provide recommendations for improving novel studies. DATA SOURCES: The literature search was conducted in February 2020 and updated in March 2021, using a broad range of bibliographic and clinical trial-specific databases. DATA EXTRACTION: Data were extracted using a standardized form, and articles reporting on 28 clinical studies (already published or still ongoing) were included. The risk of bias in clinical studies was evaluated using the Cochrane Collaboration Risk of Bias Assessment tool for randomized trials and the Risk of Bias in Nonrandomized Studies-Interventions tool for nonrandomized trials. RESULTS: The results suggest that probiotics improve ASD-like social deficits, GI symptoms, and gut microbiota profile. However, inconsistencies among studies and their methodological limitations make it difficult to draw any conclusions regarding the efficacy of probiotics in ASD. This review provides specific suggestions for future research to improve the quality of the studies. CONCLUSIONS: Although ongoing studies have improved designs, the available knowledge does not permit solid conclusions to be made regarding the efficacy of probiotics in ameliorating the symptoms (psychiatric and/or GI) associated with ASD. Thus, more high-quality research and new approaches are needed to design effective probiotic strategies for ASD.

Invasive disease caused simultaneously by two different serotypes of Streptococcus pneumoniae: a microbiological appreciation.

We report a clinical case of a child with an invasive pneumococcal disease caused by two different pneumococcal serotypes that belonged to different sequence types. She was a 15-month-old girl with pneumonia and pleural effusion in which S. pneumoniae colonies with different morphologies grew, one from the blood culture (characteristic greyish appearance) and the other from the pleural fluid (mucoid appearance). The isolate from blood was serotype 22 F (ST698/CC698/GPSC61), while the isolate from the pleural fluid was serotype 3 (ST180/CC180/GPSC12). The patient fully recovered after treatment with intravenous ampicillin followed by oral amoxicillin.

Rendimiento del ensayo de amplificación mediada por transcriptasa (TMA) Procleix SARS-CoV-2 para el diagnóstico de COVID-19 en “pools” de muestras nasofaríngeas. Pequeño estudio piloto / Performance of the Procleix SARS-CoV-2 transcriptase-mediated amplification (TMA) assay for the diagnosis of COVID-19 in nasopharyngeal sample pools. Small pilot study

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Identification of Streptococcus pneumoniae lytA, plyA and psaA genes in pleural fluid by multiplex real-time PCR / Identificación de los genes lytA, plyA y psaA de Streptococcus pneumoniae en líquido pleural mediante una técnica de PCR múltiple en tiempo real

INTRODUCTION: The aim was to evaluate the utility of a multiplex real-time PCR to detect Streptococcus pneumoniae lytA, plyA and psaA genes in pleural fluid (PF). METHODS: A collection of 81 PF samples was used. Sixty were considered positive for S. pneumoniae according to previous results (54 by an in-house lytA gene PCR and eight by universal rRNA PCR). RESULTS: The sensitivity for detection of the lytA, plyA and psaA genes by multiplex PCR was 100% (60/60), 98.3% (59/60) and 91.7% (55/60), respectively. The detection of all three genes was negative in 21 samples formerly confirmed as negative for S. pneumoniae (100% specificity) by the other procedures (9 by in-house lytA PCR and 12 by rRNA PCR). CONCLUSIONS: The use of this multiplex PCR may be a useful option to identify S. pneumoniae directly in PF samples

INTRODUCCIÓN: El objetivo fue evaluar la utilidad de una técnica de PCR múltiple para detectar los genes lytA, plyA y psaA de Streptococcus pneumoniae en líquido pleural. MÉTODOS: Se empleó una colección de 81 muestras de líquido pleural. Sesenta habían sido consideradas positivas para S. pneumoniae según resultados previos (54 por una prueba casera de PCR para el gen lytA y 8 por una PCR universal rRNA). RESULTADOS: La sensibilidad de la técnica para la detección de los genes lytA, plyA y psaA fue respectivamente 100% (60/60), 98,3% (59/60) y 91,7% (55/60). La detección de los tres genes resultó negativa en 21 muestras negativas (especificidad 100%) por los otros procedimientos (9 por la prueba casera de PCR para lytA y 12 por la PCR rRNA). CONCLUSIONES: El uso de esta técnica de PCR múltiple puede ser una opción útil para la detección directa de S. pneumoniae en líquido pleural

Diagnóstico serológico de parotiditis epidémica: valor de la titulación de IgG específica / Serological diagnosis of mumps: Value of the titration of specific IgG

Introducción: El objetivo del estudio fue determinar un punto de corte de la titulación de IgG mediante ELISA en el diagnóstico de parotiditis. Métodos: Se estudiaron sueros de 85 casos de parotiditis (confirmados por PCR en saliva) y de 2.351 controles de la población de la Comunidad de Madrid. Resultados: La detección de IgM fue positiva en 21 casos (sensibilidad del 24,7). El mejor punto de corte de IgG correspondía a títulos ≥4.900 (sensibilidad del 64,7% y especificidad del 86,1%). De 42 pacientes vacunados con ≥1 dosis de triple vírica se detectó IgM en 4, mientras que la detección de IgG ≥4.900 fue positiva en 29 (sensibilidad del 69,0%). Conclusiones: Un resultado de IgG ≥4.900 fue casi 5 veces más probable en un paciente con parotiditis que en otro sujeto no infectado. La detección de títulos elevados de IgG frente a parotiditis puede mejorar el rendimiento diagnóstico de la IgM en vacunados (AU)

Introduction: The aim of this study was to evaluate a cut-off point of the titration of IgG by ELISA in the diagnosis of mumps. Methods: A study was made of serum samples from 85 mumps cases (confirmed by PCR in saliva) and 2,351 controls of the general population of the Region of Madrid. Results: The IgM detection was positive in 21 cases (sensitivity of 24.7%). The best cut-off point corresponded to IgG titres ≥4,900 (sensitivity of 64.7% and specificity of 86.1%). Among 42 patients immunised with at least one dose of measles mumps, rubella vaccine IgM was detected in 4 cases. However, the detection of IgG ≥4,900 was positive in 29 (sensitivity of 69.0%). Conclusions: An IgG result of ≥4.900 was almost 5 times more probable in a patient with mumps than in a non-infected patient. The detection of high titres of IgG against mumps could improve the IgM results in vaccinated people (AU)

Estimulador del nervio vago: tratamiento en 158 pacientes pediátricos con un largo seguimiento / Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up

Objetivo. Describir una población pediátrica de pacientes con epilepsia farmacorresistente tratada con estimulador del nervio vago en un hospital nacional de pediatría, evaluando la eficacia, la tolerabilidad y la seguridad del tratamiento. Pacientes y métodos. Se realizó un análisis retrospectivo de 158 pacientes pediátricos seguidos por epilepsia refractaria al tratamiento farmacológico y no farmacológico, incluida la cirugía, que fueron tratados con estimulador del nervio vago entre los años 2001 y 2015. Se excluyeron pacientes con encefalopatías evolutivas y cardiopatías congénitas. Resultados. Se incluyeron 158 pacientes (80 varones) con una edad media de implante de 11,4 años y un tiempo de evolución de epilepsia preimplante de 9,5 años. El tiempo de seguimiento fue de 1-15 años (mediana: 6,9 años); la edad actual de los pacientes, 2-31 años (mediana: 14,1 años). A los 24 meses postimplante, un 66,5% de los pacientes presentó una mejoría mayor o igual al 50% de las crisis previas. Sólo tres pacientes (1,8%) presentaron efectos adversos graves, 26 (16,4%) mostraron efectos adversos menores y 129 (81,8%) no mostraron efectos adversos al tratamiento. Conclusión. La terapia con estimulador del nervio vago en esta serie pediátrica con epilepsia refractaria fue eficaz, bien tolerada y segura (AU)

Aim. To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. Patients and methods. A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded. Results. 158 patients (80 male) were included, with a mean age at implantation of 11.4 years and a mean age at evolution of epilepsy of 9.5 years. Time of follow-up: 1-15 years (median: 6.9 years). Patient’s age at this time: 2-31 years (median: 14.1 years). Effectiveness: 66.5% of patients showed more or equal at 50% of seizure control at 24 months of implant. Just three patients showed severe side effects (1.8%). Minor side effects were seen in 26 patients (16.4%). Without side effects: 129 (81.8%). Conclusion. Vagus nerve stimulation is an effective, tolerable and safe therapy in our pediatric series with refractory epilepsy (AU)

Estudio poblacional de seroprevalencia de anticuerpos frente al virus de la hepatitis A en la Comunidad de Madrid, 2008-2009 / Population study of seroprevalence of antibodies against hepatitis A virus in the Community of Madrid, 2008-2009

INTRODUCCIÓN: Las encuestas de seroprevalencia permiten conocer el nivel de endemicidad del virus de la hepatitis A (VHA). El objetivo de este estudio es estimar la seroprevalencia (SP) de anticuerpos frente al VHA por grupos de edad y compararlos con los obtenidos en las anteriores encuestas. METODOLOGÍA: Estudio observacional de tipo transversal. La población diana está constituida por los residentes de 2-60 años de edad de la Comunidad de Madrid. Se ha realizado un muestreo por conglomerados bietápico, con estratificación de las unidades de primera etapa. Tras la firma del consentimiento informado, a cada participante se le extrajo una muestra de suero para el estudio y se recogieron datos sociodemográficos mediante un cuestionario. RESULTADOS: La SP de anticuerpos frente a hepatitis A es de 46,8% (IC95%: 44,6-49,0). La SP aumenta con la edad. Es mayor en la población procedente de países de mayor endemicidad y en la población con menor nivel de estudios y clase social más baja. Con relación a la encuesta anterior se observa un incremento de la SP en los menores de 30 años y un descenso a partir de esa edad. Si se considera sólo la población autóctona y procedente de países de muy baja endemicidad, el incremento es estadísticamente significativo en el grupo de 2-5 años. CONCLUSIONES: Nuestra región presenta un nivel de endemicidad muy bajo por lo que, siguiendo las recomendaciones de la OMS, la vacunación debe ser dirigida a grupos específicos de riesgo

INTRODUCTION: Seroprevalence surveys enable the level of endemicity of hepatitis A (HAV) to be assessed. The aim of this study was to estimate the seroprevalence (SP) antibody against HAV by age group, and compare it with those obtained in previous surveys. METHODS: Observational cross-sectional study. The target population consists of residents from 2 to 60 years old in the Community of Madrid. Two-stage cluster sampling was performed with stratification of first stage units. After signing the informed consent, a serum sample was extracted from each participant and sociodemographic data were collected by a questionnaire. RESULTS: SP antibodies to hepatitis A is 46.8% (95% CI 44.6 to 49.0). The SP increases with age. It is higher in the population from more endemic countries and people with less education and lower social class. In relation to the previous survey, SP increased in the population under 30 years old, and a decline after that age is observed. If only the autochthonous population and from countries with very low endemicity is observed, the increase is statistically significant in the 2-5 years age group. CONCLUSIONS: Our region has a very low level of endemicity thus, following the recommendations of WHO, vaccination should be targeted at specific risk groups

Adaptation and validation of the Spanish Version of the "Survey Work-Home Interaction - NijmeGen" (SWING) to Spanish speaking countries / Adaptación y validación de la versión española de la "Survey Work-Home Interaction - NijmeGen" (SWING) en países hispanohablantes

The purpose of this study is the adaptation and validation of the "Survey Work-Home Interaction - NijmeGen" (SWING) developed by Geurts and colleagues to Spanish speaking countries (SWING-SSC). In order to analyze the questionnaire’s psychometric properties, confirmatory factor analysis (CFA) was carried out with a sample of 203 employees from various Spanish-speaking countries. Criterion related validity was tested by examining correlations between the SWING-SSC, and the theoretically relevant variables: health, role conflict, role clarity and supervisor support. Finally, reliability was tested analyzing the internal consistency of the scales. The analyses carried out indicate that SWING-SSC has good psychometric properties. In addition, the present results support the relation of the construct with health, role conflict, role clarity, and supervisor support. This study offers evidence for a sound work-life balance measure that contributes to the encouragement adequate conditions in the workplace, to reduce the conflict between the two spheres of professional and personal life, and to enhance positive relationships

El propósito de este estudio es adaptar y validar la "Survey Work-Home Interaction - NijmeGen" (SWING), desarrollada por Geurts y colaboradores, a países de habla hispana (SWING-SSC). Con el fin de analizar las propiedades psicométricas del cuestionario, se llevó a cabo un análisis factorial confirmatorio (AFC) con una muestra de 203 empleados de diferentes países de habla hispana. La validez de criterio se puso a prueba mediante el examen de las correlaciones entre el SWING-SSC y otras variables teóricas relevantes: salud, conflicto de rol, claridad de rol y apoyo del supervisor. Finalmente, se puso a prueba la fiabilidad analizando la consistencia interna de las escalas. Los análisis realizados indican que el SWING-SSC tiene buenas propiedades psicométricas. Además, los resultados apoyan la relación del constructo con la salud, el conflicto de rol, la claridad de rol, y el apoyo del supervisor. Este estudio ofrece evidencia de una medida del equilibrio entre trabajo y vida que contribuye al fomento de las condiciones adecuadas en el lugar de trabajo, para reducir el conflicto entre las dos esferas de la vida profesional y personal, y para fomentar las relaciones positivas

Detección de rotavirus G9P[8] como agente causante de un brote de gastroenteritis en una residencia de ancianos / Detection of a rotavirus G9P[8] outbreak causing gastroenteritis in a geriatric nursing home

Introducción: el objetivo de este trabajo es describir un brote de gastroenteritis por rotavirus en una residencia de personas mayores. Materiales y métodos: Se estudiaron heces de 8 sujetos. La detección antigénica se realizó mediante enzimoinmunoanálisis de adsorción (ELISA). La caracterización molecular se efectuó mediante reacción en cadena de la polimerasa en tiempo real. Resultados: Se detectó rotavirus en 6 enfermos. La tipificación demostró un genotipo común (G9P[8]).Conclusión: Este brote entre personas mayores sugiere una pérdida de inmunidad debido a la edad o una carencia de protección frente a un genotipo emergente (AU)

Introduction: The aim of this study was to describe an outbreak of gastroenteritis due to rotavirus in a geriatric nursing home. Method: Stool samples from 8 patients were studied. Antigen detection was carried out by ELISA, and molecular typing was performed by RT-PCR. Results: Rotavirus antigen was detected in 6 patients. Typing demonstrated a common genotype (G9P[8]).Conclusion: The outbreak detected in elderly persons suggests a loss of immunity with age or a lack of protection against an emergent genotype (AU)