Sudden cardiac death in young athletes: Literature review of molecular basis

Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue among medical personnel, sports communities and laypersons alike, and generates significant media attention. The most frequent cause of SCD is a hidden inherited cardiomyopathy, the athletes may not even be aware of. Predictive medicine, by searching the presence of pathogenic alterations in cardiac genes, may be an integrative tool, besides the conventional ones used in cardiology (mainly electro and echocardiogram), to reach a definitive diagnosis in athletes showing signs/symptoms, even borderline, of inherited cardiomyopathy/ channelopathy, and in athletes presenting family history of SCD and/or of hereditary cardiac disease. In this review, we revised the molecular basis of the major cardiac diseases associated to sudden cardiac death and the clinical molecular biology approach that can be used to perform risk assessment at DNA level of sudden cardiac death, contributing to the early implementation of adequate therapy. Alterations can occur in ion channel genes, in genes encoding desmosomal and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton and the nuclear envelope. The advent of next generation sequencing (NGS) technology has provided the means to search for mutations in all these genes, at the same time. Therefore, this molecular approach should be the preferred methodology for the aforementioned purpose

Sperm glyceraldehyde 3-phosphate dehydrogenase gene expression in asthenozoospermic spermatozoa

It has been suggested that the energy required for sperm motility is produced by oxidative phosphorylation while glycolysis seems to be an important source for ATP transmission along the flagellum. Some studies have investigated the chemical and kinetic properties of the enzyme glyceraldehyde 3‐phosphate dehydrogenase to identify any changes in the regulation of glycolysis and sperm motility. In contrast, there are few studies analyzing the genetic basis of hypokinesis. For this reason, we investigated the glyceraldehyde 3‐phosphate dehydrogenase gene in human sperm to evaluate whether asthenozoospermia was correlated with any changes in its expression. Semen examination and glyceraldehyde 3‐phosphate dehydrogenase gene expression studies were carried out on 116 semen samples divided into two groups – Group A consisted of 58 normokinetic samples and Group B of 58 hypokinetic samples. Total RNA was extracted from spermatozoa, and real‐time PCR quantification of mRNA was carried out using specific primers and probes. The expression profiles for the Groups A and B were very similar. The mean delta Ct was as follows – Group A, 5.79 ± 1.04; Group B, 5.47 ± 1.27. Our study shows that in human sperm, there is no difference in glyceraldehyde 3‐phosphate dehydrogenase gene expression between samples with impaired motility and samples with normal kinetics. We believe that this study could help in the understanding of the molecular mechanisms of sperm kinetics, suggesting that hypomotility may be due to a possible posttranscriptional impairment of the control mechanism, such as mRNA splicing, or to posttranslational changes

Plan de igualdad de Oportunidades entre muejres y hombres en una empresa del sector ocio

Desde el origen de los tiempos la mujer ha tenido un papel secundario en la sociedad, si bien ha experimentado una evolución importante en los últimos años, todavía sigue buscando reafirmar su posición tanto a nivel social como laboral. Gracias a los avances y logros en el campo legislativo, las mujeres han tenido más participación en el mercado laboral, pero han sido insuficientes ya que hoy en día no se incorporan de igual forma y con las mismas condiciones que los hombres; suelen tener empleos de menor calidad y más precarios, con menor salario, no tienen mucha posibilidad de progresar o de ascender y se le suelen asignar puesto sin mucha responsabilidad. Una de las notas características cuando se persigue la igualdad de género no es buscar potenciar al sexo femenino poniéndolo en ventaja con respecto al masculino o poner en una situación de superioridad a las mujeres en detrimento a la de los hombres; si no se busca que ambos géneros tengan las mismas condiciones de trabajo, las mismas ventajas salariales, las misma oportunidades de progresar profesionalmente, que existan mecanismos para que pueda haber conciliación entre la vida laboral y familiar y poder eliminar cualquier situación de discriminación o acoso en el ámbito laboral; en resumidas cuentas que ambos puedan acceder a las mismas oportunidades sin que el género imponga limitaciones para el acceso y progreso profesional. Se puede creer que la igualdad de género persigue fines únicamente feministas ya que se ha trabajado más en los derechos de la mujeres, pero todos estos movimientos también van dirigido al colectivo de los hombres, que al igual que las mujeres sufren estereotipos sociales, exclusión laboral e inclusive acosos sexual en la organización, así que la igualdad busca que los hombres puedan tener posibilidades de conciliar la vida familiar con la laboral, poder acceder a puestos tradicionalmente ocupados por mujeres, que pueda acceder a mecanismos contra el acoso laboral y acoso sexual, etcétera. Una de las herramientas más importantes que pueden contar las empresas para logras una igualdad efectiva, es mediante los planes de igualdad donde una vez implantados deberá ser obligatorio respetar la igualdad de trato y de oportunidades en el ámbito laboral y, con esta finalidad, deberá adoptar medidas dirigidas a evitar cualquier tipo de discriminación laboral entre mujeres y hombres. Los planes de igualdad son obligatorios para empresas conformadas por más de doscientos cincuenta trabajadores (BOE, 2007), pero el presente proyecto pretende trabajar con una empresa del sector del ocio conformada por una plantilla de cuarenta y un personas. El principal objetivo es hacer un diagnóstico de la situación actual que presenta la empresa en materia de género y plantear un Plan de Igualdad específico para el contexto de la organización en cuestión, que pueda dar recomendaciones y proponer protocolos para poder mejorar la situación de equidad en los diferentes puestos de trabajo.Facultad de Ciencias de la EmpresaUniversidad Politécnica de Cartagen

Detection of Plasmodium falciparum male and female gametocytes and determination of parasite sex ratio in human endemic populations by novel, cheap and robust RTqPCR assays

The presence of Plasmodium falciparum gametocytes in peripheral blood is essential for human to mosquito parasite transmission. The detection of submicroscopic infections with gametocytes and the estimation of the gametocyte sex ratio are crucial to assess the human host potential ability to infect mosquitoes and transmit malaria parasites

Ciproterone acetato e meningiomi: lo stato dell’arte

L’impiego di ciproterone acetato è stato associato all’insorgenza di meningiomi nella popolazione generale e in quella transgender. Il maggiore rischio sembra correlato alla dose impiegata e al tempo in cui si segue la terapia e più alta è l’incidenza di meningiomi nella popolazione transgender femminile che non nella popolazione generale. Massima attenzione deve essere posta dal clinico a eventuali sintomi presenti e, per minimizzare tale rischio, scegliere il minor dosaggio efficace possibile

Gallbladder adenomyomatosis: imaging findings, tricks and pitfalls

Gallbladder adenomyomatosis (GA) is a benign alteration of the gallbladder wall that can be found in up to 9% of patients. GA is characterized by a gallbladder wall thickening containing small bile-filled cystic spaces (i.e., the Rokitansky-Aschoff sinuses, RAS). The bile contained in RAS may undergo a progressive concentration process leading to crystal precipitation and calcification development. A correct characterization of GA is fundamental in order to avoid unnecessary cholecystectomies. Ultrasound (US) is the imaging modality of choice for diagnosing GA; the use of high-frequency probes and a precise focal depth adjustment enable correct identification and characterization of GA in the majority of cases. Contrast-enhanced ultrasound (CEUS) can be performed if RAS cannot be clearly identified at baseline US: RAS appear avascular at CEUS, independently from their content. Magnetic resonance imaging (MRI) should be reserved for cases that are unclear on US and CEUS. At MRI, RAS can be identified with extremely high sensitivity, but their signal intensity varies widely according to their content. Positron emission tomography (PET) may be helpful for excluding malignancy in selected cases. Computed tomography (CT) and cholangiography are not routinely indicated in the suspicion of GA

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive diagnosis. In this article, we review the current genetic knowledge associated with MDs, focusing on diagnosis of MCM and MDs showing cardiac involvement. We searched for publications on mitochondrial and nuclear genes involved in MCM, mainly focusing on genetic screening based on targeted gene panels for the molecular diagnosis of the MCM, by using Next Generation Sequencing. Here we report twelve case reports, four case-control studies, eleven retrospective studies, and two prospective studies, for a total of twenty-nine papers concerning the evaluation of cardiac manifestations in mitochondrial diseases. From the analysis of published causal mutations, we identified 130 genes to be associated with mitochondrial heart diseases. A large proportion of these genes (34.3%) encode for key proteins involved in the oxidative phosphorylation system (OXPHOS), either as directly OXPHOS subunits (22.8%), and as OXPHOS assembly factors (11.5%). Mutations in several mitochondrial tRNA genes have been also reported in multi-organ or isolated MCM (15.3%). This review highlights the main disease-genes, identified by extensive genetic analysis, which could be included as target genes in next generation panels for the molecular diagnosis of patients with clinical suspect of mitochondrial cardiomyopathies

Electronic health records (EHRs) in clinical research and platform trials: Application of the innovative EHR-based methods developed by EU-PEARL

Electronic health records; Platform trialsRegistros médicos electrónicos; Pruebas de plataformaRegistres mèdics electrònics; Proves de plataformaObjective Electronic Health Record (EHR) systems are digital platforms in clinical practice used to collect patients’ clinical information related to their health status and represents a useful storage of real-world data. EHRs have a potential role in research studies, in particular, in platform trials. Platform trials are innovative trial designs including multiple trial arms (conducted simultaneously and/or sequentially) on different treatments under a single master protocol. However, the use of EHRs in research comes with important challenges such as incompleteness of records and the need to translate trial eligibility criteria into interoperable queries. In this paper, we aim to review and to describe our proposed innovative methods to tackle some of the most important challenges identified. This work is part of the Innovative Medicines Initiative (IMI) EU Patient-cEntric clinicAl tRial pLatforms (EU-PEARL) project’s work package 3 (WP3), whose objective is to deliver tools and guidance for EHR-based protocol feasibility assessment, clinical site selection, and patient pre-screening in platform trials, investing in the building of a data-driven clinical network framework that can execute these complex innovative designs for which feasibility assessments are critically important. Methods ISO standards and relevant references informed a readiness survey, producing 354 criteria with corresponding questions selected and harmonised through a 7-round scoring process (0–1) in stakeholder meetings, with 85% of consensus being the threshold of acceptance for a criterium/question. ATLAS cohort definition and Cohort Diagnostics were mainly used to create the trial feasibility eligibility (I/E) criteria as executable interoperable queries. Results The WP3/EU-PEARL group developed a readiness survey (eSurvey) for an efficient selection of clinical sites with suitable EHRs, consisting of yes-or-no questions, and a set-up of interoperable proxy queries using physicians’ defined trial criteria. Both actions facilitate recruiting trial participants and alignment between study costs/timelines and data-driven recruitment potential. Conclusion The eSurvey will help create an archive of clinical sites with mature EHR systems suitable to participate in clinical trials/platform trials, and the interoperable proxy queries of trial eligibility criteria will help identify the number of potential participants. Ultimately, these tools will contribute to the production of EHR-based protocol design.“EU-PEARL has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 853966-2. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA and CHILDREN'S TUMOR FOUNDATION, GLOBAL ALLIANCE FOR TB DRUG DEVELOPMENT NON PROFIT ORGANISATION, SPRINGWORKS THERAPEUTICS INC.

Factores que determinan los honorarios de auditoria de ONGS: Análisis empírico para España

El objetivo de este trabajo es obtener evidencia sobre los factores que determinan los honorarios derivados de la prestación de servicios de auditoría en entidades sin fines de lucro españolas. Para tal fin, se parte de una base de 200 entidades sin fines de lucro españolas, seleccionando 84 de ellas, en el periodo correspondiente al 2017, y para la cuales se ha reunido información de tipo cuantitativo y cualitativo. Los resultados permiten concluir como los honorarios por la prestación de servicios de auditoria están condicionados por el nivel de presupuesto anual aprobado de la entidad auditada, y por el hecho de que la firma de auditoría pertenezca al grupo de las firmas de auditoría multinacionales Big Four.This paper tries to obtain relevant evidence on factors that determine the fees derived from provision of audit services in Spanish non-profit organizations. For this purpose, this project is based on 200 Spanish non-profit organizations selected during 2017 and for which economic and financial information, of a quantitative and qualitative type has been gathered. The results allow us to conclude how the fees for the provision of audit services are conditioned by the level of approved annual budget of the audited entity, and by the fact that the audit firm belongs to the group of Big Four multinational audit firms