De la prevención a la anticipación en biomedicina : la transferencia de órganos y tejidos

Actualmente en las sociedades occidentales, podemos observar nuevas prácticas que son a la vez realidad y ficción en tanto se desarrollan en el terreno de lo posible, lo imaginable y lo óptimo. En el presente artículo, nos centramos en el caso de la transferencia de órganos y tejidos para describir cómo las actantes y prácticas biomédicas implicadas se articulan configurándola como un proceso anticipatorio, es decir, como constante movimiento que aspira a traer futuros móviles al presente. A partir de un estudio de tipo etnográfico en el que exploramos el quehacer cotidiano de un equipo de coordinación de trasplantes Español, empezamos sugiriendo que el acto de donar se inserta como un imperativo más en la cada vez más individualizada gestión de los devenires biológicos de las ciudadanas. En segundo lugar, nos centramos en cómo la articulación del diagnóstico de muerte encefálica funciona en tanto entidad generadora de coherencia entre las diferentes temporalidades que se producen en la transferencia de órganos y tejidos. A continuación, exponemos los mecanismos de optimización que operan en las listas de espera materializando futuros imaginados. Finalmente, con la descripción de la latencia permanente en la que trabajan los equipos de coordinación de trasplantes, damos cuenta de cómo la biomedicina está pasando de generar prácticas insertadas en las lógicas de la prevención a prácticas que obedecen lógicas de preparaciónCurrently, within Western societies, we can see new practices that are at once reality and fiction as they unfold in the terrain of the possible, the imaginable and the optimum. In the present paper, we focus on the case of organ and tissues transfer to describe how those biomedical actants and practices involved are articulated, configuring it as an anticipatory process, namely as a constant movement attempting to bring mobile futures to the present. Drawing on an ethnographic study exploring the everyday activity of a Spanish transplant coordination team,, we begin by suggesting that donation gets inserted as an imperative in the increasingly individualized management of the citizens' biological becomings. Secondly, we turn to how the articulation of the brain death diagnosis functions as an entity capable of creating coherence between the different temporalities produced in the organs and tissues transfer. Then, we show the optimization mechanisms that operate within the waiting lists materializing imagined futures. Finally, by way of describing the permanent latency in which the transplant coordination teams work, we give an account of how biomedicine is turning away from generating practices inserted in a logic of prevention to practices that obey a logic of preparatio

CNVfilteR: an R/bioconductor package to identify false positives produced by germline NGS CNV detection tools.

Germline copy-number variants (CNVs) are relevant mutations for multiple genetics fields, such as the study of hereditary diseases. However, available benchmarks show that all next-generation sequencing (NGS) CNV calling tools produce false positives. We developed CNVfilteR, an R package that uses the single nucleotide variant calls usually obtained in germline NGS pipelines to identify those false positives. The package can detect both false deletions and false duplications. We evaluated CNVfilteR performance on callsets generated by 13 CNV calling tools on 3 whole-genome sequencing and 541 panel samples, showing a decrease of up to 44.8% in false positives and consistent F1-score increase. Using CNVfilteR to detect false-positive calls can improve the overall performance of existing CNV calling pipelines. Availability: CNVfilteR is released under Artistic-2.0 License. Source code and documentation are freely available at Bioconductor (http://www.bioconductor.org/packages/CNVfilteR). Supplementary information: Supplementary data are available at Bioinformatics online

Motor speed predicts stability of cognitive deficits in both schizophrenic and bipolar I patients at one-year follow-up

Background We examined whether motor speed assessed by the finger tapping test predicts generalized and specific stable deficits because of a common patho-genic process in bipolar and schizophrenic patients. Methods: One hundred and two patients underwent a battery of neuropsychological tests. Patients with a score of less than one standard deviation from their siblings' sample in two assessments with an interval of one year were defined as suffering from stable deficits because of a common pathogenic process. In addition to univariate analyses, factor analyses, ordinal logistic regression, and multiple linear regressions were used. A general score was also calculated. Results: No differences were found between schizophrenic and bipolar patients in the deficits of verbal fluency, shift reasoning ability and executive attention. Schizophrenic patients had greater persistent cognitive deficit because of a common pathogenic factor in the verbal memory dimension than bipolar patients. Motor speed predicted the specific deficits of verbal fluency, shift reasoning, executive attention and the general deficit of both bipolar I and schizophrenic patients. Bipolar patients suffered a lesser specific deficit in the verbal memory dimension than schizophrenic patients did, this domain not being predicted by motor speed. Motor speed predicted the generalized deficit and the specific dimensions in which schizophrenic and bipolar patients showed no differences. Conclusions: These results suggest the presence of general and specific stable cognitive deficits because of a common pathogenic factor related to psychomotor slowness. Motor speed seems to be suitable endophenocognitype for schizophrenia and bipolar disorder

Evaluation of a support system for health professionals confined by COVID-19

OBJETIVOS: Evaluar la implementación de un circuito telefónico de apoyo a profesionales sanitarios confinados por COVID-19 en una dirección de Atención Primaria de Barcelona, en España.  MÉTODOS: Estudio observacional, descriptivo y transversal, realizado con profesionales confinados en domicilio entre el 11 de marzo y el 31 de mayo de 2020. Se envió por correo electrónico un cuestionario con 18 preguntas cerradas y una abierta. Se realizó un análisis descriptivo de las respuestas cerradas y un análisis del contenido temático de la pregunta abierta. RESULTADOS: 398 profesionales puntuaron globalmente el circuito con 6,54 en una escala de 1 a 10. El formato de las llamadas realizadas en el circuito de apoyo se estimó con las puntuaciones máximas, la unidad de apoyo psicológico y la coordinación por diferentes colectivos se evaluaron con las puntuaciones más bajas. El análisis del contenido de la pregunta abierta ofrece argumentos explicativos de los resultados cuantitativos.  CONCLUSIONES: El estudio permitió evaluar de manera válida y fiable la implementación de un circuito de apoyo a profesionales confinados, además de reconocer áreas de mejora. OBJECTIVE: To evaluate the implementation of a telephone system in a department of Primary Care in Barcelona, Spain, supporting health professionals confined by COVID-19.  METHODS: We conducted an observational, descriptive, cross-sectional study with confined professionals, between March 11 and May 31, 2020. We emailed a questionnaire with 18 closed-ended questions and one open-ended question and performed a descriptive analysis of the closed-ended answers and an analysis of the thematic content of the open-ended question.  RESULTS: Thirty-nine hundred and ninety-eight professionals evaluated the system overall with a score of 6.54 on a scale of 1 to 10. The evaluation of the format of calls made in the support system had higher scores, while the psychological support unit and the coordination of the different groups had lower scores. The content analysis of the open-ended question provides explanatory arguments for the quantitative results.  CONCLUSIONS: The study allowed a valid and reliable evaluation of the implementation of a support system for confined professionals, in addition to recognizing areas for improvement.

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim of this work is to evaluate CNV calling tools working on gene panel NGS data and their suitability as a screening step before orthogonal confirmation in genetic diagnostics strategies. Five tools (DECoN, CoNVaDING, panelcn.MOPS, ExomeDepth, and CODEX2) were tested against four genetic diagnostics datasets (two in-house and two external) for a total of 495 samples with 231 single and multi-exon validated CNVs. The evaluation was performed using the default and sensitivity-optimized parameters. Results showed that most tools were highly sensitive and specific, but the performance was dataset dependant. When evaluating them in our diagnostics scenario, DECoN and panelcn.MOPS detected all CNVs with the exception of one mosaic CNV missed by DECoN. However, DECoN outperformed panelcn.MOPS specificity achieving values greater than 0.90 when using the optimized parameters. In our in-house datasets, DECoN and panelcn.MOPS showed the highest performance for CNV screening before orthogonal confirmation. Benchmarking and optimization code is freely available at https://github.com/TranslationalBioinformaticsIGTP/CNVbenchmarkeR

Differences in sensorial quality associated to climacteric or non-climacteric behavior in nearisogenic lines of melon

[SPA] Se han estudiado las características organolépticas de sublíneas 5Mx derivadas de una línea casi isogénica (NIL) climatérica con introgresión de la accesión del melón coreano PI161375 (SC) en el fondo genético del cromosoma III de melón parental ´Piel de sapo´ o PS. El objetivo ha sido obtener información acerca de la posición de poligenes responsables de la calidad sensorial global evaluada tras la recolección por los consumidores de melón. Ello permitiría el futuro desarrollo de nuevas variedades mediante la transferencia de dichos poligenes a variedades élite. De las NILs analizadas, sólo 5M7 presentó un comportamiento no climatérico sin diferencias con el PS según un test triangular, mientras que el resto si fueron diferenciadas de PS por los consumidores. En general, la valoración global del fruto y el sabor presentaron una gran correlación. Todas las líneas presentaron mayor valor en aroma que el PS, pero recibieron una de su apreciación valoración global, de su textura y sabor inferior a PS, lo que se atribuye a la producción de aromas diferentes y no característicos del asumido como del tipo ´Piel de Sapo´, o/y a un ablandamiento producido por su carácter climatérico. Las NILs que mostraron un comportamiento climatérico más claro fueron las mejor valoradas por los jueces entre las líneas según un análisis de preferencias. Concretamente la línea climatérica original fue la mejor valorada y se diferenció de PS por su color interno amarillo-anaranjado, un mayor aroma a pulpa de melón, y una pulpa más jugosa dulce y aromática, pero menos fibrosa. El análisis discriminante de las variables analizadas fue capaz de separar líneas climatéricas de no climatéricas. De este mapeo de media resolución se concluye que al menos un QTL parece ser el responsable de las diferencias asociadas a ausencia o presencia de climaterio, y este QTL afectó a las propiedades sensoriales percibidas por los consumidores. [ENG] Organoleptic traits of sub near-isogenic lines (subNILs) of melon derived from climacteric a near-isogenic line with introgression in linkage group III of the Korean accession PI161375 (SC) in the genetic background of the parental line ´Piel de sapo´ was studied. The objective of this study was to obtain information about the location of quantitative trait loci (QTLs) responsible of overall fruit quality evaluated at harvest by melón consumers. This information allows the development of new varieties in the future by transferring such QTLs to elite cultivars. From the ten lines studied, only line 5M7 showed a nonclimacteric behavior and showed no significant differences with PS according to a triangular test. Overall, taste and overall quality of the fruit were highly correlated. The lines had higher aroma scores than PS, but lower texture, taste and overall quality scores, which was related to the different aroma profile of the NILs compared with the traditional PS, and to the softening induced by the climacteric behavior. The NILs with most pronounced climacteric behavior were clearly best scored by the consumers according to the preference tests. Particularly line SC3-5 had the best scores and differed from PS by its yellow to orange flesh, and a juicy, aromatic and sweet flesh. Discriminant analysis of the sensory traits analyzed was able to discriminate climacteric from non-climacteric lines. From this mediumresolution mapping it is concluded the presence of at least one QTL responsible of the absence or presence of the climacteric behavior. This QTL affected the sensory traits perceived by melon consumers.Este trabajo fue financiado por el proyecto BIO-AGR06/02-0011 (Consejería de Educación y Cultura de la CARM), El trabajo de campo, de desarrollo de líneas y marcadores moleculares, y otras facilidades fueron financiadas por los proyectos 00620/PI/04 (Fundación Séneca de la Región de Murcia) y AGL2003-09175-C02-01 y AGL2003-09175-C02--02 (Ministerio de Educación y Ciencia, cofinanciado con fondos FEDER de la UE). J. Obando agradece a la AECI una beca MAE. Agradecemos a la empresa Fitó Semillas el suministro de semillas de melón parental PS, y a Plásticos del Segura S.L. (Murcia, España) el suministro de los liners plásticos. Especial agradecimiento a los consumidores que realizaron la evaluación sensorial del melón y a Claudia Miranda y J.A. Martínez por la asistencia técnica en la recolección de frutos y el análisis sensorial, respectivamente. Al CIFEA-Torre Pacheco, y en particular a su director Plácido Varo (Consejería de Agricultura de la Región de Murcia), por el cultivo. El trabajo constituyó el proyecto fin de carrera de la Ingeniera Técnica Agrícola M.J. Ferrer en la ETSIA

Assessing Face Validity of the HexCom Model for Capturing Complexity in Clinical Practice : a Delphi study

Funding: This research was funded by INSTITUT CATALÀ DE LA SALUT, grant number 7Z19/008.Capturing complexity is both a conceptual and a practical challenge in palliative care. The HexCom model has proved to be an instrument with strong reliability and to be valid for describing the needs and strengths of patients in home care. In order to explore whether it is also perceived to be helpful in enhancing coordinated and patient-centred care at a practical level, a methodological study was carried out to assess the face validity of the model. In particular, a Delphi method involving a group of 14 experts representing the full spectrum of healthcare professionals involved in palliative care was carried out. The results show that there is a high level of agreement, with a content validity index-item greater than 0.92 both with regard to the complexity model and the HexCom-Red, HexCom-Basic, and the HexCom-Clin instruments, and higher than 0.85 regarding the HexCom-Figure and the HexCom-Patient instruments. This consensus confirms that the HexCom model and the different instruments that are derived from it are valued as useful tools for a broad range of healthcare professional in coordinately capturing complexity in healthcare practice

Clinical factors affecting semen improvement after microsurgical subinguinal varicocelectomy: which subfertile patients benefit from surgery?

Background: The exact mechanism of varicocele-related infertility is still elusive, therefore, the current challenges for its management lie in determining which patients stand to benefit most from surgical correction. The authors aimed to assess the clinical factors affecting semen improvement after left microsurgical subinguinal varicocelectomy (MSV) in relation to patient age, ultrasound varicocele grading (USVG), and presence of a right subclinical varicocele (RSV). Methods: From 2010 to 2017 a total of 228 infertile patients underwent left MSV for clinical varicocele. Descriptive statistics were used to describe the cohort and verify the surgical benefit in terms of semen improvement, in addition, subsets of patients were selected according to clinical covariates. Logistic regression modeling was applied to evaluate the presence of RSV, operative time, age, and USVG as explanatory variables. Results: Sperm concentration (SC), progressive sperm motility (PSM), and normal sperm morphology (NSM) increased significantly after surgery (p = 0.002; p = 0.011; p = 0.024; respectively). Mean SC improved after MSV in > 35 year-old patients and the grade 3 USVG group (p = 0.01; p = 0.02; respectively). Logistic regression modeling showed a that the probability of SC improvement was 76% lower in subjects presenting RSV (p = 0.011). In addition, patients with a grade 3 USVG presented a three-times greater probability of SC improvement compared with patients with a lower USVG (p = 0.035). In addition, older patients showed a greater probability of SC improvement after MSV (p = 0.041). Conclusions: MSV is an effective varicocele-related infertility treatment that should also be offered to older patients. In addition, patients with a higher USVG benefit from surgery. In infertile men with an RSV in association with a left clinical disease, a bilateral varicocele repair should be considered

Neurocognitive profile of the post-COVID condition in adults in Catalonia. A mixed method prospective cohort and nested case-control study: Study Protocol

The diagnosis of the post-COVID condition is usually achieved by excluding other diseases; however, cognitive changes are often found in the post-COVID disorder. Therefore, monitoring and treating the recovery from the post-COVID condition is necessary to establish biomarkers to guide the diagnosis of symptoms, including cognitive impairment. Our study employs a prospected cohort and nested case-control design with mixed methods, including statistical analyses, interviews, and focus groups. Our main aim is to identify biomarkers (functional and structural neural changes, inflammatory and immune status, vascular and vestibular signs and symptoms) easily applied in primary care to detect cognitive changes in post-COVID cases. The results will open up a new line of research to inform diagnostic and therapeutic decisions with special considerations for cognitive impairment in the post-COVID condition