Infant Bronchiolitis Endotypes and the Risk of Developing Childhood Asthma: Lessons From Cohort Studies

Severe bronchiolitis (i.e., bronchiolitis requiring hospitalization) during infancy is a heterogeneous condition associated with a high risk of developing childhood asthma. Yet, the exact mechanisms underlying the bronchiolitis-asthma link remain uncertain. Birth cohort studies have reported this association at the population level, including only small groups of patients with a history of bronchiolitis, and have attempted to identify the underlying biological mechanisms. Although this evidence has provided valuable insights, there are still unanswered questions regarding severe bronchiolitis-asthma pathogenesis. Recently, a few bronchiolitis cohort studies have attempted to answer these questions by applying unbiased analytical approaches to biological data. These cohort studies have identified novel bronchiolitis subtypes (i.e., endotypes) at high risk for asthma development, representing essential and enlightening evidence. For example, one distinct severe respiratory syncytial virus (RSV) bronchiolitis endotype is characterized by the presence of Moraxella catarrhalis and Streptococcus pneumoniae, higher levels of type I/II IFN expression, and changes in carbohydrate metabolism in nasal airway samples, and is associated with a high risk for childhood asthma development. Although these findings hold significance for the design of future studies that focus on childhood asthma prevention, they require validation. However, this scoping review puts the above findings into clinical context and emphasizes the significance of future research in this area aiming to offer new bronchiolitis treatments and contribute to asthma prevention. (AU)

Biodegradation characteristics and genomic analysis of a newly isolated indole-degrading strain Pseudomonas aeruginosa Jade-X / Características de biodegradación y análisis genómico de una cepa degradante de indol recientemente aislada Pseudomonas aeruginosa Jade-X

Indole is a typical heterocyclic compound derived from tryptophan widespread in nature. Pseudomonas aeruginosa is one of the most common opportunistic pathogens everywhere in the world. Indole and P. aeruginosa will encounter inevitably; however, the indole transformation process by P. aeruginosa remains unclear. Herein, an indole-degrading strain of P. aeruginosa Jade-X was isolated from activated sludge. Strain Jade-X could degrade 1 mmol/L indole within 48 h with the inoculum size of 1% (v/v). It showed high efficiency in indole degradation under the conditions of 30–42 °C, pH 5.0–9.0, and NaCl concentration less than 2.5%. The complete genome of strain Jade-X was sequenced which was 6508614 bp in length with one chromosome. Bioinformatic analyses showed that strain Jade-X did not contain the indole oxygenase gene. Three cytochrome P450 genes were identified and up-regulated in the indole degradation process by RT-qPCR analysis, while cytochrome P450 inhibitors did not affect the indole degradation process. It suggested that indole oxidation was catalyzed by an unraveled enzyme. An ant gene cluster was identified, among which the anthranilate 1,2-dioxygenase and catechol 1,2-dioxygenase genes were upregulated. An indole-anthranilate-catechol pathway was proposed in indole degradation by strain P. aeruginosa Jade-X. This study enriched our understanding of the indole biodegradation process in P. aeruginosa.(AU)

Comparative genomics of Brucella abortus and Brucella melitensis unravels the gene sharing, virulence factors and SNP diversity among the standard, vaccine and field strains / La genómica comparada de Brucella abortus y Brucella melitensis revela el intercambio de genes, los factores de virulencia y la diversidad de SNP entre las cepas estándar, vacunales y de campo

Brucella abortus and Brucella melitensis are the primary etiological agents of brucellosis in large and small ruminants, respectively. There are limited comparative genomic studies involving Brucella strains that explore the relatedness among both species. In this study, we involved strains (n=44) representing standard, vaccine and Indian field origin for pangenome, single nucleotide polymorphism (SNP) and phylogenetic analysis. Both species shared a common gene pool representing 2884 genes out of a total 3244 genes. SNP-based phylogenetic analysis indicated higher SNP diversity among B. melitensis (3824) strains in comparison to B. abortus (540) strains, and a clear demarcation was identified between standard/vaccine and field strains. The analysis for virulence genes revealed that virB3, virB7, ricA, virB5, ipx5, wbkC, wbkB, and acpXL genes were highly conserved in most of the Brucella strains. Interestingly, virB10 gene was found to have high variability among the B. abortus strains. The cgMLST analysis revealed distinct sequence types for the standard/vaccine and field strains. B. abortus strains from north-eastern India fall within similar sequence type differing from other strains. In conclusion, the analysis revealed a highly shared core genome among two Brucella species. SNP analysis revealed B. melitensis strains exhibit high diversity as compared to B. abortus strains. Strains with absence or high polymorphism of virulence genes can be exploited for the development of novel vaccine candidates effective against both B. abortus and B. melitensis.(AU)

Stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6: hereditary cancer syndrome?

We present the case of a 69-year-old male diagnosed with stage IV perihilar cholangiocarcinoma with loss of expression of MSH2 and MSH6 proteins, but somatic wild type MSH2 and MSH6 genes with Oncomine Comprehensive Assay (OCA) genomic sequencing panel. In his cancer family history, there was a maternal aunt with sigmoid colon adenocarcinoma also missing MSH2 and MSH6 protein expression. Subsequently, we will discuss whether or not we are facing a hereditary cancer syndrome. (AU)

KRAS mutations in pancreatic cancer: could we talk about a risk factor for the development of thromboembolic phenomena?

The oncogenic KRAS mutation is associated with increased tissue factor expression and thus hypercoagulability. In this regard, numerous studies published in the last decade have shown that KRAS mutations are an important risk factor for the development of thromboembolic phenomena in neoplasms of the digestive tract, such as colorectal cancer. On the other hand, some recently published studies suggest that KRAS mutations are also associated with an increased risk of developing thromboembolic phenomena in pancreatic cancer. Based on these premises, we have conducted a single-centre retrospective study on a cohort of patients with pancreatic cancer. Our aim is to demonstrate whether there is an association between the presence of KRAS mutations in our cohort of pancreatic cancer patients and an increased risk of developing thromboembolic phenomena. (AU)

Real-world genomic profiling of acute myeloid leukemia and the impact of European LeukemiaNet risk stratification 2022 update

Backgroung Acute myeloid leukemia (AML) is a myeloid neoplasm associated with a high morbidity and mortality. The diagnosis, risk stratification and therapy selection in AML have changed substantially in the last decade with the progressive incorporation of clinically relevant molecular markers. Methods In this work, our aim was to describe a real-world genomic profiling experience in AML and to demonstrate the impact of the European Leukemia Net 2022 update on risk stratification in AML. Results and Discussion One hundred and forty-one patients were evaluated with an amplicon-based multi-gene next-generation sequencing (NGS) panel. The most commonly mutated genes were FLT3, DNMT3A, RUNX1, IDH2, NPM1, ASXL1, SRSF2, NRAS, TP53 and TET2. Detection of FLT3 ITD with NGS had a sensitivity of 96.3% when compared to capillary electrophoresis. According to ELN 2017, 26.6%, 20.1%, and 53.3% of patients were classified as having a good, moderate, or unfavorable risk. When ELN 2022 was used, 15.6%, 27.8%, and 56.6% of patients were classified as favorable, moderate, or unfavorable risk, respectively. When ELN 2022 was compared to ELN 2017, thirteen patients (14.4%) exhibited a different risk classification, with a significant decrease in the number of favorable risk patients, what has immediate clinical impact. Conclusions In conclusion, we have described a real-world genomic profiling experience in AML and the impact of the 2022 ELN update on risk stratification (AU)

Comparative genomic analysis of Halomonas campaniensis wild-type and ultraviolet radiation-mutated strains reveal genomic differences associated with increased ectoine production / El análisis genómico comparativo de cepas mutadas por radiación ultravioleta y de tipo salvaje de Halomonas campaniensis revela diferencias genómicas asociadas con una mayor producción de ectoína

Ectoine is a natural amino acid derivative and one of the most widely used compatible solutes produced by Halomonas species that affects both cellular growth and osmotic equilibrium. The positive effects of UV mutagenesis on both biomass and ectoine content production in ectoine-producing strains have yet to be reported. In this study, the wild-type H. campaniensis strain XH26 (CCTCCM2019776) was subjected to UV mutagenesis to increase ectoine production. Eight rounds of mutagenesis were used to generate mutated XH26 strains with different UV-irradiation exposure times. Ectoine extract concentrations were then evaluated among all strains using high-performance liquid chromatography analysis, alongside whole genome sequencing with the PacBio RS II platform and comparison of the wild-type strain XH26 and the mutant strain G8-52 genomes. The mutant strain G8-52 (CCTCCM2019777) exhibited the highest cell growth rate and ectoine yields among mutated strains in comparison with strain XH26. Further, ectoine levels in the aforementioned strain significantly increased to 1.51 ± 0.01 g L−1 (0.65 g g−1 of cell dry weight), representing a twofold increase compared to wild-type cells (0.51 ± 0.01 g L−1) when grown in culture medium for ectoine accumulation. Concomitantly, electron microscopy revealed that mutated strain G8-52 cells were obviously shorter than wild-type strain XH26 cells. Moreover, strain G8-52 produced a relatively stable ectoine yield (1.50 g L−1) after 40 days of continuous subculture. Comparative genomics analysis suggested that strain XH26 harbored 24 mutations, including 10 nucleotide insertions, 10 nucleotide deletions, and unique single nucleotide polymorphisms. Notably, the genes orf00723 and orf02403 (lipA) of the wild-type strain mutated to davT and gabD in strain G8-52 that encoded for 4-aminobutyrate-2-oxoglutarate transaminase and NAD-dependent succinate-semialdehyde dehydrogenase, respectively. Consequently, these genes may be involved in increased ectoine yields. These results suggest that continuous multiple rounds of UV mutation represent a successful strategy for increasing ectoine production, and that the mutant strain G8-52 is suitable for large-scale fermentation applications.(AU)

SEOM-GEICAM-SOLTI clinical guidelines for early-stage breast cancer (2022)

Breast cancer is the leading cause of cancer in women in Spain and its annual incidence is rapidly increasing. Thanks to the screening programs in place, nearly 90% of breast cancer cases are detected in early and potentially curable stages, despite the COVID-19 pandemic possibly having impacted these numbers (not yet quantified). In recent years, locoregional and systemic therapies are increasingly being directed by new diagnostic tools that have improved the balance between toxicity and clinical benefit. New therapeutic strategies, such as immunotherapy, targeted drugs, and antibody–drug conjugates have also improved outcomes in some patient subgroups. This clinical practice guideline is based on a systematic review of relevant studies and on the consensus of experts from GEICAM, SOLTI, and SEOM (AU)

SEOM–GEICAM–SOLTI clinical guidelines in advanced breast cancer (2022)

Advanced breast cancer represents a challenge for patients and for physicians due its dynamic genomic changes yielding to a resistance to treatments. The main goal is to improve quality of live and survival of the patients through the most appropriate subsequent therapies based on the knowledge of the natural history of the disease. In these guidelines, we summarize current evidence and available therapies for the medical management of advanced breast cancer (AU)

Medicina de precisión en inmunoterapia y cáncer de pulmón / Precision medicine in immunotherapy and lung cancer

La incorporación a la práctica clínica de los fármacos que inhiben el punto de control inmunitario (ICI, del inglés immunocheckpoint inhibitors), como los anticuerpos monoclonales que se dirigen al antígeno 4 asociado a linfocitos T citotóxico (CTLA-4) y la proteína de muerte celular programada 1 (PD1) y su ligando (PD-L1), han representado un gran avance en el tratamiento de distintos tipos de cáncer, especialmente el cáncer de pulmón de célula no pequeña (CPCNP), el subtipo de cáncer de pulmón más frecuente. A pesar de que la inmunoterapia se ha convertido en el estándar de tratamiento en varios tipos de cáncer, ya sea sola o en combinación con quimioterapia, no todos los pacientes responden a estos fármacos. Algunos de ellos incluso sufren de una acusada progresión tumoral durante el tratamiento. Es por ello por lo que existe la necesidad clínica de identificar biomarcadores predictivos que presenten una elevada sensitividad y especificidad. En el caso de los tratamientos basados en PD1/PD-L1, hoy en día se utiliza como biomarcador los niveles tumorales de PD-L1, aunque su capacidad de predecir la respuesta a estas nuevas drogas es ciertamente limitada. En este trabajo de revisión se describirá lo que se conoce actualmente acerca de la interacción dinámica entre la célula tumoral y el sistema inmunológico durante la carcinogénesis, haciendo especial énfasis en la descripción de las estrategias moleculares que utiliza la célula tumoral para evitar una eficiente respuesta antitumoral por el sistema inmune del huésped. Se hará hincapié en aquellas alteraciones génicas deletéreas en componentes del complejo mayor de histocompatibilidad y en moléculas mediadoras de la respuesta a interferón gamma (IFNg). (AU)

The inclusion into cancer clinical settings of the so-called immune-checkpoint inhibitors (ICIs), such as those targeting the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and the programmed cell death 1 (PD-1) and its ligand (PD-L1), has represented a breakthrough in cancer treatment, especially in non-small cell lung cancer (NSCLC), the most common type of lung cancer. Despite becoming the standard of care in some cancers, either alone or in combination with chemotherapy, a proportion ofpatients do not respond while others progress during treatment. Therefore, there is a clinical need to identify accurate predictive biomarkers and to develop novel therapeutic strategies based on ICIs. The current marker used to predict response to ICI treatments are the levels of PD-L1, but this is a quite inaccurate biomarker. In this review it will be described what is currently known about the dynamic interaction between the cancer cell and the immune system during carcinogenesis, with a particular focus on the description of the functions and alterations that preclude the host immunoresponse in cancer. We emphasize the deleterious gene alterations in components of the major histocompatibility complex and of the response to IFNγ. The role of other gene alterations, such as those of common oncogenes and tumor suppressors, and of the epigenetic alterations will also be discussed, in detail. Finally, we discuss the potential use of the tumor’s genetic profile to predict response to ICIs. (AU)

Asthma Exacerbations: The Genes Behind the Scenes

The clinical and socioeconomic burden of asthma exacerbations (AEs) constitutes a major public health problem. In the last 4 years, there has been an increase in ethnic diversity in candidate-gene and genome-wide association studies of AEs, which in the latter case led to the identification of novel genes and underlying pathobiological processes. Pharmacogenomics, admixture mapping analyses, and the combination of multiple “omics” layers have helped to prioritize genomic regions of interest and/or facilitated our understanding of the functional consequences of genetic variation. Nevertheless, the field still lags behind the genomics of asthma, where a vast compendium of genetic approaches has been used (eg, gene–environment interactions, next-generation sequencing, and polygenic risk scores). Furthermore, the roles of the DNA methylome and histone modifications in AEs have received little attention, and microRNA findings remain to be validated in independent studies. Likewise, the most recent transcriptomic studies highlight the importance of the host–airway microbiome interaction in the modulation of risk of AEs. Leveraging -omics and deep-phenotyping data from subtypes or homogenous subgroups of patients will be crucial if we are to overcome the inherent heterogeneity of AEs, boost the identification of potential therapeutic targets, and implement precision medicine approaches to AEs in clinical practice (AU)

La carga clínica y socioeconómica de las exacerbaciones asmáticas (EA) representa un importante problema de salud pública. En los últimos cuatro años, ha aumentado la diversidad étnica en los estudios de asociación de genes candidatos y del genoma completo (GWAS) de las EA, lo que, en este último caso, ha llevado a la identificación de nuevos genes y procesos fisiopatológicos subyacentes. La farmacogenómica, los análisis de mapeo por mezcla y la combinación de múltiples capas "ómicas" han contribuido a priorizar regiones genómicas de interés y/o comprender las consecuencias funcionales de la variación genética. A pesar de esto, el campo todavía está en desarrollo en comparación con la genómica del asma, donde se ha utilizado un amplio compendio de enfoques genéticos (por ejemplo: interacciones gen-ambiente, secuenciación de nueva generación o puntuaciones de riesgo poligénico). Además, el papel de la metilación del ADN y las modificaciones de las histonas en las EA se ha explorado escasamente, y los hallazgos relacionados con los microARNs aún no se han validado en estudios independientes. Asimismo, los estudios transcriptómicos más recientes destacan la importancia de la interacción entre el microbioma de las vías respiratorias y el huésped en la modulación del riesgo de las EA. La integración de datos ómicos y de fenotipado profundo de subtipos o subgrupos homogéneos de pacientes será crucial para superar la heterogeneidad inherente de las EA e impulsar la identificación de dianas terapéuticas potenciales y la implementación de la medicina de precisión para las EA en la práctica clínica (AU)

Noticia singular. Un cambio de era hacia la digitalización: ¿en qué ha cambiado la Enfermería? / Singular news. A change of era towards digitization: how has Nursing changed?

Vivimos en una época en la que somos testigos de cómo la tecnología transforma el mundo que nos rodea y la forma que teníamos hasta ahora de vivir y de trabajar. Una era que supone un cambio inmenso en la relación entre tecnología y seres humanos donde las competencias digitales tienen cada vez más relevancia. Pero, ¿en qué consiste exactamente esta nueva etapa en la que nos adentramos?.(AU)

Avances en genética clínica y sus retos actuales / Advances in clinical genetics and its current challenges

Los grandes avances en el desarrollo de las tecnologías genómicas y su incorporación a la práctica clínica habitual está suponiendo un cambio en el que la información genética de un individuo tiene cada vez mayor relevancia en su atención médica. Esto es lo que se conoce como medicina genómica. Su implementación no está exenta de barreras, entre la cuales se encuentran las dificultades en el asesoramiento e interpretación de los datos genómicos, una formación deficiente de los profesionales y los pacientes en este campo, un acceso desigual a unidades con experiencia y una falta de perfiles profesionales e infraestructuras necesarias para la incorporación de las tecnologías genómicas en la práctica clínica habitual. En este artículo se revisan los avances y retos de la medicina genómica. (AU)

The great advances in the development of genomic technologies and their incorporation into routine clinical practice is bringing about a change in which an individual's genetic information is becoming increasingly relevant to their medical care. This is known as genomic medicine. Its implementation is not without barriers, including difficulties in the assessment and interpretation of genomic data, deficient training of professionals and patients in this field, unequal access to units with expertise, and a lack of professional profiles and infrastructures necessary for the incorporation of genomic technologies into routine clinical practice. This article reviews the advances and challenges of genomic medicine. (AU)

Cribado neonatal genómico. Perspectiva de la Comisión de ética de la Asociación Española de Genética Humana. Parte II: Aspectos Éticos, Legales y Sociales (AELS) de la Introducción de las Tecnologías de Secuenciación Masiva (NGS) en un programa de cribado neonatal de Salud Pública / Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program

La secuenciación genómica es una tecnología extraordinariamente atractiva, tanto como lo es la idea de poder aplicarla a todos los recién nacidos, estableciendo con ello una etapa de cuidados médicos para toda la vida y acciones preventivas a medida del genoma de cada niño. En la parte I de este artículo se analizaron las limitaciones y oportunidades que presentan las tecnologías de secuenciación de nueva generación (NGS). La parte II relaciona el conocimiento científico con los aspectos éticos, legales y sociales (AELS) de su introducción en un programa de cribado neonatal de salud pública de aplicación universal a población vulnerable y asintomática, que debe ser guiada por los principios fundamentales de “no hacer daño” y de actuar “en el mejor interés del niño”. Para ello se contemplan en primer lugar los principios éticos de la medicina y de la salud pública que rigen el cribado neonatal, a continuación se resumen los principales aspectos de nuestro marco legal al respecto y finalmente en el ámbito social se analizan la influencia del imperativo tecnológico, la de los actores comerciales, los grupos de apoyo de pacientes y por último la perspectiva de los padres y aspectos psicosociales. Las conclusiones son que en este contexto la secuenciación genómica completa no debe ser implementada como cribado neonatal universal, sin embargo el uso de las NGS podría ser una oportunidad para ampliar los programas incluyendo enfermedades infantiles tratables que no pudiesen ser detectadas con otros métodos. Realizando para ello una aproximación dirigida a enfermedades/genes concretos, a fin de identificar variantes genómicas bien conocidas, altamente penetrantes confiriendo riesgo elevado de enfermedad prevenible o tratable, para la cual el tratamiento deba iniciarse en el periodo neonatal.(AU)

Genome sequencing is a very attractive technology as it is also the idea of sequencing children at birth, with the aim to establish medical care and preventive actions during their whole life, tailored to the genome of each newborn. Part I of this article analyses limitations and opportunities of next generation sequencing technologies (NGS). Part II relates scientific knowledge with ethical, legal and social issues (ELSIs) concerning its application to a newborn screening program. This program is offered universally to a vulnerable and asymptomatic population and must be guided by principles of “do not harm” and to act in the “best interest of child”. With this purpose, this article considers, first of all, ethical principles of bioethics and public health that govern newborn screening. Then it summarizes main issues of our legal framework. And finally, in social context, it analyzes influences of technological imperative, commercial actors and patient ́s advocacy groups, as well as parent’s perspective and psychosocial aspects. In this context, conclusion is that whole genome sequencing should not be implemented as universal newborn screening. Nevertheless, the use of NGS could be an opportunity to extend these programs, including treatable infantile diseases that cannot be detected with other technologies. That means realizing a directed approach in order to identify well known genomic variants, highly penetrant, that confer a high risk of preventable or treatable diseases for which treatment must begin at the neonatal period. The implementation of such directed genomic screening should follow current evidence based model for newborn screening.(AU)

Consideraciones éticas sobre CRISPR/Cas9: Uso terapéutico en embriones y futura gobernabilidad / Consideracionsètiques sobreCRISPR/Cas9: Ús terapèutic en embrions i futura governabilitat / Ethical considerations on CRISPR/Cas9: Therapeutic use in embryos and future governance

La técnica de edición genética CRISPR-Cas9 ha hecho una revolución dentro de la ciencia y también ha generado discusiones sobre su uso en humanos, tanto anivel de seguridad como ético y político. En este trabajo, argumento que no es posible realizar ediciones genómicas para un uso terapéutico de la técnica CRISPR-Cas9 en embriones con enfermedades monogénicas que se convertirán en futuros niños o niñas hasta que no se garantice mayor seguridad y eficacia. Para ello, considero que debe haber un balance entre la prevención en su uso terapéutico y su uso en investigación. En primer lugar, explico los diferentes posibles usos de la técnica CRISPR-Cas9 diferenciando su uso terapéutico, (práctica validada y práctica no validada); su uso para mejoramiento y su uso en investigación. En segundo lugar, analizo cuales son los riesgos de realizar ediciones genómicas para uso terapéutico. Además, enumero una serie de consideraciones éticas a tener en cuenta en el futuro en caso de que esta técnica sea aprobada. En tercer lugar, evalúo los consensos internacionales dados hasta el momento y describo el caso de Argentina, su prohibición y los problemas que genera a la hora de hacer investigaciones. En cuarto lugar, analizo las diferentes alternativas reproductivas existentes y realizo un análisis de riesgo/beneficio para su posible uso. Por último, evalúo una posible objeción a mi trabajo explicando que este no contempla la libertad reproductiva de los futuros padres/madres. En respuesta a ello, considero que se genera un conflicto entre los principios de autonomía y no maleficencia.(AU)

The CRISPR-Cas9 gene editing technique has made a revolution in science and has also generated discussions about its use in humans, both at the safety, ethical and political levels. In this paper, I argue that it is not possible to perform gene editing fortherapeutic use of the CRISPR-Cas9 technique in embryos with monogenic diseases that will become future children until greater safety and efficacy are guaranteed. To this end, I consider that there must be a balance between prevention in its therapeutic use and its use in research. First, I explain the different possible uses of the CRISPR-Cas9 technique, differentiating its therapeutic use (validated practice and non-validated practice), its use for improvement and its use in research. Secondly, I analyzethe risks of performing gene editing for therapeutic use. In addition, I list a series of ethical considerations to be considered in the future in case this technique is approved. Thirdly, I evaluate the international consensus reached so far and describethe case of Argentina, its prohibition and the problems it generates at the time of doing research. Fourthly, I analyze the different existing reproductive alternatives and perform a risk/benefit analysis for their possible use. Finally, I evaluate a possible objection to my work by explaining that it does not contemplate the reproductive freedom of prospective parents. In response, I consider that a conflict between the principles of autonomy and non-maleficence is generated.(AU)

La tècnica d'edició genètica CRISPR-Cas9 ha fet una revolució dins de la ciència i també ha generat discussions sobre el seu ús en humans, tant a nivell de seguretat com ètic i polític. En aquest treball, argument que no és possible realitzar edicions genòmiques per a un ús terapèutic de la tècnica CRISPR-Cas9 en embrions amb malalties monogèniques que es convertiran en futurs nens o nenes fins que no es garanteixi major seguretat i eficàcia. Per a això, considero que ha d'haver-hi un balanç entre la prevenció en el seu ús terapèutic i el seu ús en recerca. Enprimer lloc, explico els diferents possibles usos de la tècnica CRISPR-Cas9 diferenciant el seu ús terapèutic, (pràctica validada i pràctica no validada); el seu ús per a millorament i el seu ús en recerca. En segon lloc, analitzo quals són els riscos de realitzar edicions genòmiques per a ús terapèutic. A més, enumero una sèrie de consideracions ètiques a tenir en compte en el futur en cas que aquesta tècnica sigui aprovada. En tercer lloc, avaluo els consensos internacionals daus fins al moment i descricel cas de l'Argentina, la seva prohibició i els problemes que genera a l'hora de fer recerques. En quart lloc, analitzo les diferents alternatives reproductives existents i realitzo una anàlisi de risc/beneficio per al seu possible ús. Finalment, avaluo una possible objecció al meu treball explicant que aquest no contempla la llibertat reproductiva dels futurs pares/mares. En resposta a això, considero que es genera un conflicte entre els principis d'autonomia i no maleficència.(AU)

Forecasting COVID-19 Infection Trends and New Hospital Admissions in Spain due to SARS-CoV-2 Variant of Concern Omicron / Estimación de las tendencias de infección por COVID-19 y de nuevos ingresos hospitalarios en España debido a la variante Ómicron del SARS-CoV-2

No disponible

Genetic platforms: Do we do what we know? or do we know what we do? / Plataformas genéticas: ¿hacemos lo que sabemos? o ¿sabemos lo que hacemos?

Molecular and genomic pathology is an essential cornerstone of diagnosis in breast disease, to such an extent that genetic information is already included in therapeutic decision-making. There are now various commercial platforms available in the clinic, generally with little or no agreement in the genes included, in their technical basis, in the definition of risk groups, in the information they provide, in their indications or in the protocols required to use them. Objective To evaluate the use and knowledge of these platforms. Material and methods An eleven-question survey was conducted targeting breast units accredited by the SESPM in Spain at that time. Results 26 units out of the 36 surveyed responded and data was obtained that can guide the use of the platforms and serve as a starting point towards gaining a deeper knowledge of them. Conclusions The indications approved by the Autonomous Regions need to be re-evaluated. There is insufficient evidence to base decisions about the axilla on the platforms. MammaPrint® is the only platform with level of evidence 1a for N1–3 patients. It also identifies a subgroup of patients who may not require hormonal treatment. (AU)

La enfermedad molecular y genómica constituye un pilar irrenunciable del diagnóstico en enfermedad mamaria, de tal manera que la información genética ha sido ya integrada en la toma de decisiones terapéuticas. Actualmente, existen diferentes plataformas comerciales disponibles en la clínica, generalmente con pocas o nulas coincidencias en los genes incluidos, en su fundamento técnico, en la definición de grupos de riesgo, en la información que proporcionan, en sus indicaciones y en el circuito requerido para la realización de las mismas. Objetivo Evaluar el uso y conocimiento de dichas plataformas. Material y métodos Se realizó una encuesta de 11 preguntas dirigidas a las unidades de mama acreditadas en España por la SESPM en ese momento. Resultados Respondieron 26 unidades de 36 encuestadas y se obtuvieron datos que pueden ser orientativos acerca del uso de las plataformas y pueden servir como punto de partida para profundizar en su conocimiento. Conclusiones Es necesario re-evaluar indicaciones aprobadas por las CC.AA. No existe evidencia suficiente para tomar decisiones sobre la axila en función de la plataforma. MammaPrint® es la única plataforma con evidencia IA para pacientes N1-3. Además, identifica un subgrupo de pacientes que pueden no requerir tratamiento hormonal. (AU)

Sesión científica celebrada el 26 de noviembre de 2020 para conmemorar los premios nobel en fisiología o medicina y en química 2020 / Scientific session held on november 26, 2020 to commemorate the nobel awards in physiology or medicine and in chemistry 2020

No disponible