Biotechnological challenges: The scope of genome editing

CRISPR/Cas9 can be considered as the biotechnological breakthrough of the century. Genome editing technologies have developed in a vertiginous way. While the genome editing of species, including animals, plants and bacteria has become a commonly used method, the application of CRISPR-Cas9 in human embryos has led to debates and in-terdisciplinary discussions. This brings multiple challenges for both scientists and those who must regulate the use of these techniques.Fil: Lima, Natacha Salomé. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Psicología; ArgentinaFil: Ramos Martínez, Gustavo Antonio. Medicina Reproductiva Fertilis, Laboratorio de Biología de la Reproducción; Argentin

Las problemáticas reproductivas en clave de género y derechos humanos

Este avance de investigación analiza las problemáticas reproductivas contemporáneas en clave de género y derechos humanos. Comienza por definir el contexto de la medicina reproductiva como una plataforma tecnológica global donde los derechos de las mujeres han sido conquistados al calor de la lucha de los movimientos sociales. Describe brevemente el cambio de paradigma que promovió una ampliación de los derechos sexuales y (no) reproductivos de las mujeres, y los desafíos que actualmente encuentran las mujeres mayores de 40 años que recurren a la reproducción asistida. El último apartado analiza las implicancias de las movilidades reproductivas a partir del caso de una mujer que realizó un procedimiento de gestación por sustitución en Ucrania durante el COVID y antes de la guerra. Los resultados preliminares demuestran que, si bien se constata la ampliación de los derechos, es necesario armonizar el entorno legislativo e incorporar estándares de derechos para fortalecer las prácticas.This research update analyzes contemporary reproductive problems in terms of gender and human rights. It begins by defining the context of reproductive medicine as a global technological platform where women's rights have been conquered in the heat of the struggle of social movements. Briefly describes the paradigm shift that promoted an expansion of women's sexual and (non) reproductive rights, and the challenges currently encountered by women over 40 who resort to assisted reproduction. The last section analyzes the implications of reproductive mobilities based on the case of a woman who underwent a surrogacy procedure in Ukraine during COVID and before the war. Preliminary results show that, although the expansion of rights is verified, it is necessary to harmonize the legislative environment and incorporate rights standards to strengthen practices.Fil: Lima, Natacha Salomé. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Psicología. Instituto de Investigaciones; ArgentinaFil: Ramos Martínez, Gustavo Antonio. Fertilis Medicina Reproductiva; Argentina. Red Latinoamericana de Reproducción Asistida; Argentina. Universidad de Belgrano; Argentin

Rethinking autonomy, risk and responsibility in the application of genetic engineering therapies in the latin american context

En los últimos años, las técnicas de ingeniería genética han registrado transformaciones sin precedentes. Este trabajo parte de analizar tres escenarios controversiales: i) la modificación genómica en la línea somática; ii) la transferencia del huso meiótico; y iii) el diagnóstico genético preimplantatorio para monosomías (PGT-m) y para enfermedades poligénicas (PGT-p). En la primera parte se describen y problematizan las posibles aplicaciones a nivel clínico. En la segunda parte se considera la reformulación del alcance del principio de autonomía, de la noción de riesgo y responsabilidad reproductiva, a partir de la resignificación que, en este contexto, tiene la noción de terapéutica y de salud.In recent years, genetic engineering techniques have undergone unprecedented transformations. This work starts from analyzing three controversial scenarios: i) the genomic modification in the somatic line; ii) the meiotic spindle transfer; and iii) the preimplantation genetic diagnosis for monosomies (PGT-m) and its possible use for polygenic diseases (PGT-p). In the first part, the possible applications at a clinical level are described and problematized. The second part considers the reformulation of the scope of the principle of autonomy, the notion of risk and reproductive responsibility from analyzing the legislative trend in the Latin American context. In order to review the arguments emanating from the judicial sentences issued to approve the coverage of preimplantation genetic diagnosis in Argentina, it is concluded that the notions of therapy and health have been questioned and should be specified for the application of therapies or diagnostic techniques that involve genetic engineering.Fil: Lima, Natacha Salomé. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rodriguez Iturburu, Mariana Ines. Red Latinoamericana de Reproducción Asistida; Argentina. Universidad de Buenos Aires. Facultad de Derecho; ArgentinaFil: Ramos Martínez, Gustavo Antonio. Fertilis Medicina Reproductiva; Argentina. Red Latinoamericana de Reproducción Asistida; Argentin

Perspectivas de la edición genética (CRISPR/Cas9)

La posibilidad de introducir cambios permanentes en el genoma humano a partir de técnicas como CRISPR/Cas ha renovado la reflexión ética y bioética sobre lasperspectivas del desarrollo científico y su incidencia en el ámbito humano. En esta oportunidad se abordará, desde una perspectiva biológica, las aplicaciones del sistema CRISPR/Cas como herramienta de edición genómica y sus aplicaciones potenciales. Luego, el fenómeno será analizado desde las perspectivas éticas yjurídicas, con especial atención en la protección de la dignidad humana, el resguardo de la integridad y la diversidad genética. Se analizará el alcance del principio precautorio para profundizar la reflexión sobre el desarrollo tecnológico. Por último, se concluye que deberían analizarse cuidadosamente los usos de estas tecnologías, no para prohibirlas de un modo absoluto, sino para conocer y evaluar los riesgos y eventualmente los beneficios de su implementación.The possibility of introducing permanent changes in the human genome through CRISPR/Cas techniques has renewed the ethical and bioethical reflection on the perspectives of the scientific developments and its incidence on the human background. In this opportunity, the application of the CRISPR/Cas system as a genomic editing tool and its potential applications will be addressed from a biological perspective. Then, the phenomenon will be analyzed form the ethical and legal perspectives, with special attention on the protection of human dignity, respect for personal integrity and genetic diversity. The scope of the precautionary principle will be analyzed to deepen the reflection on the technological development. Finally, it is concluded that the uses of these technologies an absolute way, but to know and assess the risks and eventually the benefits of their implementation.Fil: Lima, Natacha Salomé. Universidad de Buenos Aires. Facultad de Psicología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Ramos Martínez, Gustavo Antonio. Universidad de Buenos Aires; ArgentinaFil: Soberón, María Victoria. Universidad Nacional de La Plata; ArgentinaFil: Cornejo Plaza, María Isabel. Universidad de Chile; Chil

First results of archaeological research in the Colorado-Negro interfluvium (Pichi Mahuida department, Río Negro province, Argentina)

En este trabajo se presentan los resultados de las primeras investigaciones arqueológicas realizadas en el interfluvio ubicado entre los cursos medios de los ríos Colorado y Negro (Provincia de Río Negro, Argentina). En esta extensa planicie árida se encuentran lagunas temporarias en las que se concentra el material arqueológico, principalmente en superficie. Con el fin de comprender las estrategias humanas de uso del espacio y la intensidad de las ocupaciones se llevaron a cabo estudios distribucionales y, en menor medida, excavaciones arqueológicas. La información generada fue discutida a la luz de las expectativas arqueológicas derivadas del modelo de uso del espacio propuesto por Borrero y colaboradores (2008). Los resultados obtenidos indican que el registro arqueológico localizado en torno a estas lagunas efímeras es principalmente el efecto de un uso del espacio planificado y redundante. Asimismo, algunos sectores de estas lagunas fueron utilizados más intensa y repetidamente, sugiriendo casos de redundancia específica. Si bien no se cuenta con fechados radiocarbónicos, la presencia de cerámica permite vincular las ocupaciones humanas al menos al Holoceno Tardío. La evidencia discutida revela la importancia de este espacio interfluvial en los circuitos de asentamiento y movilidad de las sociedades cazadoras-recolectoras en torno a dos de los principales ríos norpatagónicos.This paper presents the first results of the archaeological investigations carried out in the interfluvium located between the middle courses of the Colorado and Negro rivers (Río Negro province, Argentina). This is an extensive arid plain with many temporary lagoons in which archaeological material is concentrated, mainly on the surface. Our analysis included distributional studies and, to a lesser extent, archaeological excavations, in order to understand the human strategies of space use and occupational intensity. The generated information is discussed in the light of archaeological expectations derived from the space use model proposed by Borrero and colleagues (2008). The results obtained indicate that the archaeological record located around these ephemeral lagoons is mainly the result of a planned and redundant use of space. Furthermore, some sectors of these lagoons were used more intensively and repeatedly, suggesting cases of specific redundancy. Although radiocarbon dates could not be obtained, the presence of pottery relates human occupations at least to the Late Holocene. The evidence discussed reveals the importance of this interfluvial space in the settlement and mobility strategies of the hunter-gatherer societies that inhabited two of the main northern Patagonian rivers.Fil: Martinez, Gustavo Adolfo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Santos Valero, María Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Alcaraz, Ana Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Borges Vaz, Erika. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Stoessel, Luciana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Flensborg, Gustavo Ariel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; ArgentinaFil: Ramos Martínez, Gustavo Antonio. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Geología de Costas y del Cuaternario. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto de Geología de Costas y del Cuaternario; ArgentinaFil: Rafuse, Daniel Joseph. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tandil. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano. Universidad Nacional del Centro de la Provincia de Buenos Aires. Investigaciones Arqueológicas y Paleontológicas del Cuaternario Pampeano; Argentin

Assessing the coupling between local neural activity and global connectivity fluctuations: Application to human intracranial electroencephalography during a cognitive task

Cognitive-relevant information is processed by different brain areas that cooperate to eventually produce a response. The relationship between local activity and global brain states during such processes, however, remains for the most part unexplored. To address this question, we designed a simple face-recognition task performed in patients with drug-resistant epilepsy and monitored with intracranial electroencephalography (EEG). Based on our observations, we developed a novel analytical framework (named “local–global” framework) to statistically correlate the brain activity in every recorded gray-matter region with the widespread connectivity fluctuations as proxy to identify concurrent local activations and global brain phenomena that may plausibly reflect a common functional network during cognition. The application of the local–global framework to the data from three subjects showed that similar connectivity fluctuations found across patients were mainly coupled to the local activity of brain areas involved in face information processing. In particular, our findings provide preliminary evidence that the reported global measures might be a novel signature of functional brain activity reorganization when a stimulus is processed in a task context regardless of the specific recorded areasPeer ReviewedPostprint (published version

Caracterización hidrogeoquímica del acuífero Jerez, estado de Zacatecas, México

Para llevar a cabo la caracterización hidrogeoquímica y determinación de la calidad del agua del acuífero Jerez se realizó la toma de 29 muestras de agua subterránea, de las cuales se determinaron las concentraciones de aniones y cationes mayores, así como elementos traza, en laboratorios de la Universidad Autónoma de San Luis Potosí. Esta información permitió, mediante diagramas de Piper y Stiff, la definición de tres grupos de agua: bicarbonatada sódica, bicarbonatada mixta y bicarbonatada cálcica. La primera tiene el mayor tiempo de residencia relativa en el acuífero, circula a través del medio fracturado, compuesto por rocas volcaniclásticas, además considerando que tiene los mayores promedios de F y temperatura del sistema, se infiere la presencia de un sistema de flujo regional; la segunda de las familias tiene temperaturas moderadas, circula por el medio granular y se le relaciona probablemente con sistemas de flujo intermedio; por último, la familia bicarbonatada cálcica posee las menores concentraciones de Cl, firma que la categoriza con sistemas de flujo local, circula por el medio granular y es la de menor tiempo de residencia relativa del acuífero. En términos generales, el agua es de buena calidad, ya que las concentraciones de STD, SO4 , N-NO3 y Cl están dentro de los límites permisible de la NOM-127- SSA1-1994, 2000; no obstante, respecto a los iones As y F, su concentración en algunos pozos localizados en las porciones centro y NE del acuífero rebasan la normatividad oficial, lo que sugiere su prohibición de uso como agua potable

HTLV-1 infection in solid organ transplant donors and recipients in Spain

HTLV-1 infection is a neglected disease, despite infecting 10-15 million people worldwide and severe illnesses develop in 10% of carriers lifelong. Acknowledging a greater risk for developing HTLV-1 associated illnesses due to immunosuppression, screening is being widely considered in the transplantation setting. Herein, we report the experience with universal HTLV testing of donors and recipients of solid organ transplants in a survey conducted in Spain. All hospitals belonging to the Spanish HTLV network were invited to participate in the study. Briefly, HTLV antibody screening was performed retrospectively in all specimens collected from solid organ donors and recipients attended since the year 2008. A total of 5751 individuals were tested for HTLV antibodies at 8 sites. Donors represented 2312 (42.2%), of whom 17 (0.3%) were living kidney donors. The remaining 3439 (59.8%) were recipients. Spaniards represented nearly 80%. Overall, 9 individuals (0.16%) were initially reactive for HTLV antibodies. Six were donors and 3 were recipients. Using confirmatory tests, HTLV-1 could be confirmed in only two donors, one Spaniard and another from Colombia. Both kidneys of the Spaniard were inadvertently transplanted. Subacute myelopathy developed within 1 year in one recipient. The second recipient seroconverted for HTLV-1 but the kidney had to be removed soon due to rejection. Immunosuppression was stopped and 3 years later the patient remains in dialysis but otherwise asymptomatic. The rate of HTLV-1 is low but not negligible in donors/recipients of solid organ transplants in Spain. Universal HTLV screening should be recommended in all donor and recipients of solid organ transplantation in Spain. Evidence is overwhelming for very high virus transmission and increased risk along with the rapid development of subacute myelopathy

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Evolving trends in the management of acute appendicitis during COVID-19 waves. The ACIE appy II study

Background: In 2020, ACIE Appy study showed that COVID-19 pandemic heavily affected the management of patients with acute appendicitis (AA) worldwide, with an increased rate of non-operative management (NOM) strategies and a trend toward open surgery due to concern of virus transmission by laparoscopy and controversial recommendations on this issue. The aim of this study was to survey again the same group of surgeons to assess if any difference in management attitudes of AA had occurred in the later stages of the outbreak. Methods: From August 15 to September 30, 2021, an online questionnaire was sent to all 709 participants of the ACIE Appy study. The questionnaire included questions on personal protective equipment (PPE), local policies and screening for SARS-CoV-2 infection, NOM, surgical approach and disease presentations in 2021. The results were compared with the results from the previous study. Results: A total of 476 answers were collected (response rate 67.1%). Screening policies were significatively improved with most patients screened regardless of symptoms (89.5% vs. 37.4%) with PCR and antigenic test as the preferred test (74.1% vs. 26.3%). More patients tested positive before surgery and commercial systems were the preferred ones to filter smoke plumes during laparoscopy. Laparoscopic appendicectomy was the first option in the treatment of AA, with a declined use of NOM. Conclusion: Management of AA has improved in the last waves of pandemic. Increased evidence regarding SARS-COV-2 infection along with a timely healthcare systems response has been translated into tailored attitudes and a better care for patients with AA worldwide