Note from the General Editor

Nota del Editor General

In the last years, Artificial Intelligence (AI) has revolutionized the methodologies of scientific research and the writing of scientific papers, as well as the editorial management of scientific journals and academic books. This technology -which allows computers to simulate the human intelligence and capacities for problem resolution- involves the development of algorithms modelled from the processes of decision making of the human brain that can “learn” from the available data to make classifications and predictions.

The benefits of using AI are clear, among them, the increasing efficiency of the processes of investigation, analysis and interpretation of results, and decision making. In the international scientific community, notwithstanding, concerns have been raised on the use of Large Language Models (LLMs) -such as ChatGPT, Google Bard, or Bing– in the activities that are their own. These concerns are principally centered in ethical aspects, and in the authenticity and integrity of the scientific publications due to the possible fraudulent or malicious use of the tools. In fact, challenges have been posed to avoid the damages that can be derived from the use of AI such as reinforcement of biases, lack of data privacy (particularly important in research with human beings), perpetuation of inaccuracies, and the potential to reduce critical thinking due to overconfidence in the tools. The reduction in critical thinking, particularly among the youngest researchers who are more prone to use AI due to their familiarization with technologies, might have undesirable consequences on the advancement of the scientific knowledge and its applications.

For the previously mentioned, the need has arisen to develop guides or protocols for the use of AI in scientific research and writing, and in editorial management to insure an ethical and responsible application. In relation to this point, minimum consensus have been reached by the international community, namely: (a) AI used for the development of a work or the elaboration of a manuscript cannot be cited as an author because only human beings can be responsible for the content of a scientific article; (b) not being legal entities, AI models cannot make statements regarding conflicts of interest or manage copyrights or licenses of use; (c) editors and reviewers are responsible for the evaluations, opinions, and decisions on the manuscripts handled by them. In short, the various actors of the scientific system are fully responsible of their actions -including those performed with AI- and, thus, of any unethical breach.

It is fundamental, then, that users of AI choose the tools according to the benefits that could be obtained from them, but in full knowledge of the limitations and possible damages that might be derived from their improper use. Likewise, it is a must that the international community continue the work on the development of guides and protocols to insure the responsible and ethical use of AI in the scientific field.

Elsa L. Camadro

ARTICLE 1 – research

POPULATION EXPANSION OF Prosopis alba Griseb. (LEGUMINOSAE) IN SOUTHERN SOUTH-AMERICA: PHYLOGEOGRAPHICAL AND ECOLOGICAL APPROACH BASED ON cpDNA SEQUENCES

EXPANSIÓN POBLACIONAL DE Prosopis alba GRISEB. (LEGUMINOSAE) EN EL SUR DE SUDAMÉRICA: APROXIMACIÓN FILOGEOGRÁFICA Y ECOLÓGICA BASADA EN SECUENCIAS DE ADNcp

Bessega C., Pometti C., Saidman B.O., Fortunato R., Santoro C.M., Mcrostie V., Vilardi J.C.

Genealogical relationships among DNA lineages considering their current geographic distributions are useful to infer historical events that have shaped the contemporary distributions of species and their genetic variation. In this study we analyzed the variation of the nadhF-rpl32 intergenic spacer in Prosopis alba Griseb. samples (algarrobo) collected in Chile, Argentina and Bolivia in order to contribute to our understanding of the evolutionary history of this species in southern South-America. We assessed the influence of environmental conditions on the demographic history of them by using a Bayesian ecological clustering (BPEC) approach and simulations based on the theory of coalescence. The results obtained allowed us to identify nine haplotypes. The Tajima (TD= -1.35) and Fu (Fs= -2.36) tests were non-significant, suggesting absence of selection. On the other hand, the disparity between sequences or raggedness (rg=0.021) was also non-significant, compatible with the population expansion. The coalescent analysis using MCMC indicated that the best fit demographic model was the linear growth one, with a time to the most recent common ancestor, for the haplotypes sampled in the present analysis, TMRA=0.0072, that is, roughly 7,000 generations. The BPEC analysis identified two clusters whose distribution partially overlaps in the Atacama Desert (Chile) and allows us to postulate that the species would have expanded to the north and west from the Chaqueña Region in Argentina. The comparison of scenarios by means of ABC (Approximate Bayesian Computation) analyses is in accordance with this result as the cases where the East cluster or the Argentinean samples were postulated as ancestral, yielded the higher posterior probabilities. The analysis performed contributed to the P. alba historical reconstruction throwing light on the trans Andean movement considering direction, time and natural- and human-mediated dispersal agents.

Key words: algarrobo, Atacama Desert, Bayesian analysis, coalescent models, nadhF-rpL32 intergenic spacer, population genetics
Language: English

ARTICLE 2 – research

VARIANTE DEL GEN KMT5B Y LA DISCAPACIDAD DEL DESARROLLO INTELECTUAL AUTOSÓMICO DOMINANTE 51. REPORTE DE UN CASO
Y CONSIDERACIONES DE LA INTERPRETACIÓN CLÍNICA

VARIANT OF THE KMT5B GENE AND THE DISABILITY OF AUTOSOMAL DOMINANT INTELLECTUAL DEVELOPMENT 51. CASE REPORT AND CONSIDERATIONS OF THE CLINICAL INTERPRETATION

Ratti S.G, Álvarez E.O., Allende E., Funes M.C., Sacchi O.J., Della Vedova M.C., Mendoza G., Marsá S.

The intellectual developmental disorder (IDD) is a disruption of the neurodevelopment which is characterized by a decrease in the ability for reasoning and understanding abstract and complex information. IDD can occur either isolated or in conjunction with other neurodevelopmental disorders such as autism, motor disruptions, sensorial disruptions, dreaming and feeding disruptions. The objective of the present communication is to expand the knowledge about the phenotype-genotype relationship so far scarcely described in variants of the KMT5B gene, and also to contribute to the understanding of the clinical implications of neurodevelopmental disorders. A clinical case is presented of a female child referred for medical consultation due to maturational delay. Her medical history included a prenatal echography diagnostic of intrauterine growth delay. During physical examination a cephalic perimeter of -2 SD and slight dysmorphias were observed as positive signs. In addition, her reddish hair color, very white skin, hypoplasia of the nails, and an irregular border café-au-lait spot on the left iliac fossa were particularly noticeable. A molecular genetic study for genes involved in autism spectrum disorder was requested. A variant of uncertain significance was detected in the KMT5B gene. The phenotype presented by the patient contributes to the so far scarce description of the genotype-phenotype relationship of KMT5B gene variants. It is proposed to extend the phenotypic characterization of the gene by including information on the alteration in epigenetic regulation and neighbor genes that share the locus of the gene under study.

Key words: autism, dominant, intellectual disability in development, KMT5B gen, neurodevelopment
Language: Spanish

ARTICLE 3 – research

HOST IMMUNE RESPONSE TO SARS-CoV-2 INFECTION BY TLR3, TLR4 AND TLR7 GENE EXPRESSION THROUGH SEMI-QUANTITATIVE RETRO-TRANSCRIPTION PCR

RESPUESTA INMUNE DEL HUÉSPED A LA INFECCIÓN POR SARS-CoV-2 MEDIANTE LA EXPRESIÓN DE LOS GENES TLR3, TLR4 Y TLR7 A TRAVÉS DE RT-PCR SEMICUANTITATIVA

Martinez Marignac V.L., Lirussi D., Oertlin G., Favant J.L., Fleischman E., Salinas M., Marchetti G., Gassali Z., Richard S.M.

Toll-like receptors (TLRs) involved in viral detection or overexpressed during infection, play also a main role in the subsequent development of fatal clinical manifestations in COVID-19 patients. We characterized by semi-quantitative retro-transcription PCR the expression of TLR 3, 4, and 7 in nasopharyngeal total RNA samples from 150 and 152 individuals, positive and negative for COVID-19, respectively. All patients were grouped in accordance with the presence of respiratory symptoms, and results on rapid molecular diagnostic test (NeoKit S.A.) during 2021. Four groups were analyzed: a) COVID-19 RNA detected with severe symptomatology; b) COVID-19 RNA detected with low/mild symptomatology; c) COVID-19 RNA not detected with severe symptomatology; and d) COVID-19 RNA not detected with low/mild symptomatology. Other variables studied were age and sex. Our results show (while correcting the sample size bias of previous reports), a non-significant difference in the expression of TLR4/7 between COVID-19 positive and negative patients. Noteworthy, the expression of TLR3 was augmented in patients that resulted negative for COVID-19. When we compared the expression among the four groups, a significant positive correlation between severe symptomatology and TLR4 expression in patients positive and negative for COVID-19 was found. Furthermore, TLR4 gene expression was significantly amplified in those COVID-19 patients with severe symptomatology when compared with non-severe COVID-19 cases. Our data suggest that our innate TLRs immune system may respond differently to respiratory infections with similar symptomatology. We confirmed that mainly TLR3 and TLR4 could be involved in the response to respiratory pathogenesis and particularly TLR4 in COVID-19 infection with severe symptoms. In concordance with previous studies, we found that in inflammatory respiratory diseases it is important to focus on TLR3, and TLR4 gene expression to understand severe symptoms development. Research on these pathways may help to find modulators or antagonists to these genes, for future treatments.

Key words: gene expression, isothermal amplification, SARS-CoV-2 diagnoses, semi-quantitative retro-transcription PCR, toll-like receptor genes
Language: English