RESUMO Objetivo: Verificar a utilização e identificar as vantagens dos métodos moleculares para diagnóstico de infecções congênitas no líquido cefalorraquidiano de neonatos. Fontes de dados: A revisão foi registrada na base PROSPERO (International Prospective Register of Systematic Reviews) sob CRD42021274210. A busca bibliográfica foi realizada nas bases de dados PubMed, Biblioteca Virtual em Saúde/ Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (BVS/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, e EBSCOhost. A busca foi feita no período de agosto a outubro de 2021 e atualizada em dezembro de 2022, respeitando as orientações do Preferred Reporting Items for Systematic Reviews e Meta-Analyises (PRISMA). A sequência da seleção dos estudos foi: 1) Remoção de duplicatas; 2) Exame de títulos e resumos; 3) Recuperação dos textos completos potencialmente relevantes; e 4) Avaliação do texto completo conforme critérios de elegibilidade por dois autores independentes. O critério de inclusão considerou ensaios clínicos randomizados e não randomizados, estudos longitudinais, transversais, revisados por pares, estudos em humanos, publicados em inglês, espanhol, italiano e português, com recém-nascidos de até 28 dias que sofreram neuroinfecções congênitas pelos agentes toxoplasmose, rubéola, citomegalovírus, herpes simples (TORCH), e outros como Treponema pallidum, Zika, parvovírus B-19, varicela zoster, Epstein-Barr, e SARS-CoV-2, diagnosticadas por reação em cadeia de polimerase (PCR). Dois avaliadores extraíram as seguintes informações: autor, ano de publicação, nacionalidade, sujeitos, tipo de estudo, métodos, resultados e conclusão. Síntese dos dados: O patógeno mais estudado foi Herpes Simples. Muitos artigos relataram somente sintomas iniciais inespecíficos, motivando a coleta de líquido cefalorraquidiano e realização da PCR para investigação etiológica. Conclusões: Os métodos moleculares são eficazes para detectar o genoma do patógeno no líquido cefalorraquidiano, o que pode impactar na evolução clínica e no prognóstico neurológico. Objetivo neonatos International CRD42021274210 CRD PubMed LatinoAmericano Latino Americano BVS/BIREME, BVSBIREME BVS/BIREME , BVS BIREME (BVS/BIREME) Scopus Science EMBASE, EMBASE (EMBASE) Cochrane ProQuest EBSCOhost 202 2022 MetaAnalyises Meta Analyises PRISMA. PRISMA . (PRISMA) 1 duplicatas 2 resumos 3 relevantes 4 independentes longitudinais transversais pares humanos inglês espanhol português recémnascidos recém nascidos toxoplasmose rubéola citomegalovírus TORCH, TORCH (TORCH) pallidum Zika B19, B19 B 19, 19 B-19 zoster EpsteinBarr, EpsteinBarr Epstein Barr, Barr Epstein-Barr SARSCoV2, SARSCoV2 SARSCoV SARS CoV 2, SARS-CoV-2 PCR. (PCR) informações autor publicação nacionalidade sujeitos estudo conclusão Simples inespecíficos etiológica Conclusões neurológico CRD4202127421 (BVS/BIREME (EMBASE 20 (PRISMA (TORCH B1 B-1 SARS-CoV- (PCR CRD420212742 B- SARS-CoV CRD42021274 CRD4202127 CRD420212 CRD42021 CRD4202 CRD420 CRD42 CRD4

ABSTRACT Objective: To verify the use and identify advantages of molecular methods for congenital infections diagnosis in cerebrospinal fluid of neonates. Data source: The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO), under CRD42021274210. The literature search was performed in databases: PubMed, Virtual Health Library/ Latin American and Caribbean Center on Health Sciences Information (VHL/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, and EBSCOhost. The search was carried out from August to October 2021 and updated in December 2022, respecting the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The selection sequence was: 1) Duplicate title removal; 2) Examination of titles and abstracts; 3) Full-text retrieval of potentially relevant reports; and 4) Evaluation of the full text according to eligibility criteria by two independent authors. Inclusion criteria considered randomized and non-randomized control trials, longitudinal, cross-sectional, and peer-reviewed studies in humans, published in English, Spanish, Italian, and Portuguese, with newborns up to 28 days old who had congenital neuroinfections by toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH), and others such as Treponema pallidum, Zika, parvovirus B-19, varicella zoster, Epstein-Barr, and SARS-CoV2, diagnosed by polymerase chain reaction (PCR). Two evaluators extracted the following information: author, year of publication, nationality, subjects, study type, methods, results, and conclusion. Data synthesis: The most studied pathogen was herpes simplex. Several articles reported only nonspecific initial symptoms, motivating the collection of cerebrospinal fluid and performing PCR for etiological investigation. Conclusions: Molecular methods are effective to detect pathogen genomes in cerebrospinal fluid, which can impact clinical evolution and neurological prognosis. Objective neonates source PROSPERO, PROSPERO , (PROSPERO) CRD42021274210 CRD databases PubMed Library VHL/BIREME, VHLBIREME VHL/BIREME VHL BIREME (VHL/BIREME) Scopus Science EMBASE, EMBASE (EMBASE) Cochrane ProQuest EBSCOhost 202 2022 MetaAnalyses Meta Analyses PRISMA (PRISMA guidelines 1 removal 2 abstracts 3 Fulltext Full reports 4 authors nonrandomized non trials longitudinal crosssectional, crosssectional cross sectional, sectional cross-sectional peerreviewed peer reviewed humans English Spanish Italian Portuguese toxoplasmosis rubella cytomegalovirus TORCH, TORCH (TORCH) pallidum Zika B19, B19 B 19, 19 B-19 zoster EpsteinBarr, EpsteinBarr Epstein Barr, Barr Epstein-Barr SARSCoV2, SARSCoV2 SARSCoV SARS CoV2, CoV2 CoV SARS-CoV2 PCR. . (PCR) information author publication nationality subjects type results conclusion synthesis symptoms investigation Conclusions prognosis (PROSPERO CRD4202127421 (VHL/BIREME (EMBASE 20 (TORCH B1 B-1 SARS-CoV (PCR CRD420212742 B- CRD42021274 CRD4202127 CRD420212 CRD42021 CRD4202 CRD420 CRD42 CRD4

Abstract Introduction: Anoectochilus formosanus is a highly valuable herb known for its efficacy in treating a wide range of diseases. However, the current methods used to differentiate this species from others within the same genus are not effective due to the high similarity in morphological characteristics and DNA barcode sequences among these species. Objective: To characterize the chloroplast (cp) genome to distinguish A. formosanus at species or isolation levels. Methods: The complete cp genome was sequenced using next-generation sequencing technology, annotated, and compared with published cp genomes of various species within the Anoectochilus genus. Results: The complete cp genome of A. formosanus is 152 658 bp in size, consisting of a large and small copy of 82 692 bp and 17 346 bp, respectively, separated by inverted repeats of 26 310 bp. Within the cp genome, there are a total of 141 genes, including 92 protein-coding genes, 10 rRNA genes, and 39 tRNA genes. This genome contains a total of 80 simple sequence repeats, with 50 long repeats. Through phylogenetic analysis, a close relationship was observed between A. formosanus in Vietnam and A. formosanus samples from China (NC_061756.1). However, genomic comparisons highlighted differences between the two cp genomes, specifically in their reverse repeat sequences. Conclusion: These findings reveal distinct variations in the cp genome of A. formosanus in Vietnam, offering valuable insights into the taxonomy, plant identification, breeding, and conservation programs related to this herb in Vietnam.

Resumen Introducción: Anoectochilus formosanus es una orquídea herbácea muy valiosa, conocida por su eficacia en el tratamiento de una amplia gama de enfermedades. Sin embargo, los métodos actuales utilizados para diferenciar esta especie de otras dentro del mismo género no son efectivos debido a la gran similitud en las características morfológicas y las secuencias de códigos de barras de ADN entre estas especies. Objetivo: Caracterizar el genoma del cloroplasto (cp) para distinguir A. formosanus a nivel de especie o de aislamiento. Métodos: El genoma completo del cp se secuenció utilizando tecnología de secuenciación de nueva generación, se anotó y se comparó con los genomas del cp publicados de varias especies del género Anoectochilus. Resultados: El genoma del cp completo de A. formosanus tiene un tamaño de 152 658 pb y consta de una copia grande y pequeña de 82 692 pb y 17 346 pb, respectivamente, separadas por repeticiones invertidas de 26 310 pb. Dentro del genoma del cp, hay un total de 141 genes, incluidos 92 genes codificadores de proteínas, 10 genes de ARNr y 39 genes de ARNt. Este genoma contiene un total de 80 repeticiones de secuencia simple, con 50 repeticiones largas. Mediante análisis filogenético, se observó una estrecha relación entre A. formosanus de Vietnam y muestras de A. formosanus de China (NC_061756.1). Sin embargo, las comparaciones genómicas resaltaron diferencias entre los dos genomas del cp, específicamente en sus secuencias de repetición invertida. Conclusión: Estos hallazgos revelan distintas variaciones en el genoma del cp de A. formosanus en Vietnam, lo que ofrece información valiosa sobre la taxonomía, la identificación de plantas, la reproducción y los programas de conservación relacionados con esta hierba en Vietnam.

ABSTRACT Introduction: Chikungunya virus (CHIKV) is an alphavirus with a single-stranded RNA genome belonging to the Togaviridae family. It is transmitted through the bite of mosquitoes of the Aedes sp. genus and is characterized by fever and disabling joint pain. Objetive: Determine the clinical and epidemiological characteristics of the chikungunya virus in pediatric patients who attended a Regional Hospital in Paraguay between January and June 2023. Materials and method: Quantitative, observational, descriptive cross-sectional study. All patients with variables of interest were included in the study; sex, age, origin, clinical findings and atypical symptoms. Results: A total of 465 clinical records of patients with confirmed chikungunya were reviewed. The minimum age of the patients was four days, and the maximum was 17 years; half of the patients were between 1 and 10 years of age. Male predominance in 52.7%, patients from urban areas in 72.5%. 62.6% had a typical presentation of chikungunya infection, and 37.4% had an atypical presentation. Fever, polyarthralgia, myalgia, headache, vomiting, and nausea predominated in the usual manner. In the atypical form, alterations of the cardiovascular system, bleeding dyscrasias, and pneumonia, among others, predominate. 4.3% presented complications, including encephalitis-meningoencephalitis and myocarditis. There was a death rate of 10.8%. Conclusion: Male sex predominated, coming from urban areas with typical presentation of chikungunya, with predominant symptoms of fever, polyarthralgia, and myalgia. Atypical form alteration of the cardiovascular system, bleeding dyscrasias, pneumonia. 4.3% presented complications, 10.8% died.

RESUMEN Introducción: El virus chikungunya (CHIKV), es un alfavirus con genoma de ARN monocatenario, perteneciente a la familia Togaviridae, transmitido a través de la picadura de mosquitos del género Aedes sp., caracterizada por fiebre y dolores articulares incapacitantes. Objetivo: Determinar las características clínicas y epidemiológicas del virus chikungunya en pacientes pediátricos que acudieron a un Hospital Regional de Paraguay entre enero y junio del 2023. Material y Métodos: Estudio cuantitativo, observacional, descriptivo de corte transversal. Se incluyeron en el estudio todos los pacientes que presenten variables de interés; sexo, edad, procedencia, hallazgos clínicos y síntomas atípicos. Resultados: Se ha realizado la revisión de 465 fichas clínicas de pacientes con cuadro confirmado de chikungunya. La edad mínima de los pacientes fue de 4 días y la máxima de 17 años, la mitad de los pacientes estuvieron ubicados entre 1 y 10 años de edad. El 62,6% tuvo una presentación típica del cuadro de infección por chikungunya, el 37,4% tuvo una forma de presentación atípica. El 4,3% presentó complicaciones entre las que se citan encefalitis-meningoencefalitis y miocarditis. El 10,8% tuvo desenlace fatal, obitó. Conclusión: En cuanto a los datos demográficos, hubo predominio del sexo masculino y procedencia urbana. En cuanto a la presentación clínica, se reportaron formas típicas con fiebre, polialtralgias y mialgias. Las formas atípicas se presentaron con alteración del sistema cardiovascular, discrasia sanguínea y neumonías asociadas. Los casos que se consideraron complicados representan el 4,3% de la muestra y fue del 10,8% la mortalidad.

ABSTRACT Hop stunt viroid (HSVd) is the causal agent of citrus cachexia, which can lead to significant crop losses. As part of a preventive management strategy, it is essential to use healthy plants from a certification program. This study aimed to evaluate the healthiness of 17 citrus cultivars against HSVd using both biological and molecular diagnostics. For biological diagnosis, Etrog citron (Citrus medica L.) clone Arizona 861 S1 was used as an indicator plant, incorporating negative and positive controls for HSVd infection. For molecular diagnosis, reverse transcription polymerase chain reaction (RT-PCR) technique was employed with specific primers for viroid detection. Results indicated that six months after inoculation, the positive control exhibited symptoms associated with viroid infection, such as necrosis in the petiole and stem, leaf epinasty, and necrosis in the midvein. In contrast, both the negative control and evaluated citrus cultivars showed no symptoms. These findings were supported by molecular analysis, which allowed the amplification of a viroid genome region only in the positive control. Both biological and molecular diagnosis confirmed the absence of HSVd in the citrus varieties assessed. This study will allow the evaluation of the citrus plant collections used in the foundation category as a source of buds for plant multiplication of registered and certified seeds for citrus propagation nurseries in Colombia.

RESUMEN El viroide del enanismo del lúpulo (HSVd) es el agente causal de la cachexia de los cítricos, que puede provocar pérdidas significativas en el cultivo. Como parte de una estrategia de manejo preventivo, es indispensable utilizar plantas sanas provenientes de un programa de certificación. Este estudio tuvo como objetivo evaluar la sanidad de 17 cultivares de cítricos frente a HSVd, utilizando diagnósticos biológico y molecular. Para el diagnóstico biológico, se empleó como planta indicadora cidro Etrog (Citrus medica L.) clon Arizona 861 S1, incluyendo controles negativos y positivos para la infección por HSVd. Para el diagnóstico molecular se utilizó la técnica de Reacción en Cadena de la Polimerasa con Transcriptasa Inversa (RT-PCR) con cebadores específicos para la detección del viroide. Los resultados indicaron que seis meses después de la inoculación, el control positivo mostró síntomas asociados con la infección por el viroide, como necrosis en el peciolo y tallo, epinastia foliar y necrosis en vena media. Por el contrario, tanto el control negativo como los cultivares de cítricos evaluados no presentaron síntomas. Estos resultados fueron corroborados por el análisis molecular, que permitieron amplificar una región del genoma del viroide, únicamente en el control positivo. Ambos diagnósticos biológico y molecular confirmaron la ausencia de HSVd en las variedades de cítricos evaluadas. Este estudio permitirá la evaluación de las colecciones de plantas de cítricos utilizadas en la categoría fundación como fuente de yemas para la multiplicación de semilla registrada y certificadapara los viveros productores de material de propagación de cítricos en Colombia.

Abstract Background: The chloroplast genomes of Cactaceae exhibit boundary modifications in the inverted repeat regions (IRs), gene inversions, and deletions. Among nine Mammillaria species, three distinct chloroplast structures have been identified, although not all of these correspond to the morphology-based classification of the genus. Question: Is there a distinct chloroplast genome structure in the species of Mammillaria series Stylothelae? Studied species: Mammillaria bocasana and M. erythrosperma. Study site and dates: Mexico from 2019 to 2023. Methods: Chloroplast DNA was sequenced, and chloroplast genomes were de novo assembled using the Fast-Plast program. Complete plastome sequences were annotated and verified. The sequences were aligned in MAUVE program to detect possible structural changes. A maximum likelihood phylogeny was executed to evaluate the relationships of the studied species. Results: The plastomes ranged from 107,368 bp in Mammillaria bocasana to 108,069 bp in M. erythrosperma. Both presented a quadripartite structure and contained 108 genes. The IRs were ~ 1,600 bp long and included the genes rpl2, rpl23 (pseudo), and trnI-CAU. MAUVE identified a ~ 21 kb inversion in the large single copy containing a block of genes related to photosynthesis. The phylogenetic analysis placed both species in a single clade separated from the other species within Mammillaria subg. Mammillaria. Conclusions: The studied species of Mammillaria series Stylothelae exhibited a different and synapomorphic chloroplast genome structure. Other Mammillaria chloroplast genome structures have evolved independently in different lineages.

Resumen Antecedentes: Los genomas de cloroplasto de Cactaceae exhiben modificaciones en los límites de las regiones repetidas inversas (IRs), inversiones de genes y deleciones. En nueve especies de Mammillaria, se han encontrado tres estructuras de cloroplasto distintas, aunque no todas corresponden a las clasificaciones basadas en morfología. Pregunta: ¿Existe una estructura de genoma de cloroplasto distinta en las especies de Mammillaria serie Stylothelae? Especies estudiadas: Mammillaria bocasana y M. erythrosperma. Sitio y años de estudio: México, de 2019 a 2023. Métodos: ADN de cloroplasto fue secuenciado y los plastomas fueron ensamblados de novo usando el programa Fast-Plast. Las secuencias completas fueron anotadas y verificadas. Las secuencias fueron alineadas en el programa MAUVE para detectar posibles cambios estructurales. Un análisis filogenético con máxima verosimilitud evaluó las relaciones de las especies estudiadas. Resultados: Los plastomas variaron desde 107,368 pb de longitud en Mammillaria bocasana hasta 108,069 pb en M. erythrosperma. Ambos presentaron una estructura cuadripartita y contuvieron 108 genes. Las IRs tuvieron ~1,600 pb y contuvieron los genes rpl2, rpl23 (pseudo) y trnI-CAU. MAUVE identificó una inversión de ~21 kb en la región larga de copia única que contiene genes relacionados con la fotosíntesis. El análisis filogenético recuperó a ambas especies como grupos hermanos dentro de Mammillaria subg. Mammillaria. Conclusiones: Las dos especies estudiadas de Mammillaria serie Stylothelae presentaron una estructura de plastoma sinapomórfica. Otras estructuras de plastomas de Mammillaria han evolucionado independientemente en linajes diferentes.

Summary: Arachis hypogaeaL. originated in South America and has been taken to most of the tropical and sub-tropical parts of the world as a valuable food crop with high protein content and a source of high energy unsaturated oil. The origin of the cultivated peanut, 2n = 4x= 40, has been the subject of many discussions, but the primitive parents have been agreed on by most asA. duranensisbeing the A genome donor andA. ipaënsisthe B donor; both diploids with 2n= 20. Whether the chromosome doubling of this hybrid occurred in a natural setting or in the garden of a hunter-gatherer-cultivator is also a subject of debate, but most likely it occurred in nature. Molecular analyses have established thatA. duranensiswas the female of the cross. Until recently no one had been successful in making and establishing plants of the cross in that direction. However, the reciprocal cross is easily accomplished and has been reported several times. The primary objective of this paper is to report the successful cross and development of hybrid plants, amphidiploids and populations from the hybrid,A. duranensis×A. ipaënsis.

Resumen: Arachis hypogaeaL. se originó en América del Sur y ha sido llevado a gran parte de las zonas tropicales y subtropicales del mundo como un valioso cultivo alimenticio con alto contenido de proteínas y como una fuente de aceite insaturado. El origen del maní cultivado, 2n= 4x= 40, ha sido objeto de muchas discusiones, pero la mayoría concuerda en queA. duranensissería el donante del genoma A yA. ipaënsisel donante B; ambos diploides con 2n= 20. También es objeto de debate si la duplicación cromosómica de este híbrido ocurrió en un entorno natural o en el jardín de un cazador-recolector-cultivador. Los análisis moleculares han establecido queA. duranensisfue el progenitor femenino del cruzamiento. Hasta hace poco nadie había tenido éxito en hacer el cruzamiento y establecer plantas del mismo en esa dirección. El cruzamiento recíproco se logra fácilmente y se ha informado varias veces. El objetivo principal de este trabajo es informar sobre el éxito del cruzamiento y el desarrollo de plantas híbridas, anfidiploides y poblaciones del híbridoA. duranensis×A. ipaënsis.

Resumen En este trabajo presentamos el análisis de la secuencia mitocondrial completa de una muestra biológica perteneciente a Blas Jaime, reconocido como chaná, hablante de la lengua chaná y originario de la región centro-sur de la provincia de Entre Ríos. La información se presenta en el contexto genealógico y geográfico de Jaime, y en el marco de los antecedentes genéticos disponibles para la región. El objetivo de este estudio es aportar al conocimiento, desde una perspectiva multidisciplinaria, de la lengua chaná a partir de la información lograda, desde la reconstrucción genealógica y del secuenciamiento del genoma mitocondrial de Blas Jaime. Los resultados sugieren la existencia de un vínculo filogenético y diferenciación temprana con indígenas kayapó de la región central de Brasil y con pobladores del este de Paraguay.

Abstract In this work, we present the analysis of the complete mitochondrial sequence of a biological sample belonging to Blas Jaime, recognized as Chaná, speaker of the Chaná language, and native of the southern-central region of the province of Entre Ríos. The information is presented within the genealogical and geographical context of Jaime and in the framework of the genetic background available for the region. The objective of this study is to contribute to the understanding, from a multidisciplinary perspective, of the contexts of the Chaná language based on the information obtained from genealogical reconstruction and the sequencing of the Blas Jaime’s mitochondrial genome. The results suggest the existence of a phylogenetic link and early differentiation with Kayapó indigenous peoples from the central region of Brazil and with inhabitants of eastern Paraguay.

Resumo Neste trabalho, apresentamos a análise da sequência mitocondrial completa de uma amostra biológica pertencente a Blas Jaime, reconhecido como Chaná, falante da língua Chaná e originário da região centro-sul da província de Entre Ríos. A informação é apresentada no contexto genealógico e geográfico de Jaime e no âmbito dos antecedentes genéticos disponíveis para a região. O objetivo deste estudo é contribuir para o conhecimento, a partir de uma perspectiva multidisciplinar, dos contextos da língua Chaná com base das informações obtidas na reconstrução genealógica e no sequenciamento do genoma mitocondrial de Blas Jaime. Os resultados sugerem a existência de um vínculo filogenético e diferenciação precoce com os indígenas Kayapó da região central do Brasil e com habitantes do leste do Paraguai.

Abstract The objective was to know the population structure of Holstein animals in the family dairy system, to identify possible origins of the genetic material, to know the degree of inbreeding and to identify possible traces of selection in the genome, which allow glimpses of the traits that have been improved over the years. The study included 270 animals genotyped with the GGP-50K® chip. After genotype quality control, 43,548 autosomal SNPs were included. To know the population structure, analyses of mixtures and principal components (PCs) were performed. To know genomic inbreeding and detect traces of selection, information on runs of homozygosity (ROH) was used. Mixture analysis was performed with the Admixture software, and PC, ROH and inbreeding analyses were performed with SVS-v7.6.8. Mixture analysis showed evidence of six components, all linked to Holstein bulls families with different country of origin. The PCs did not show stratification of the population by herd. The mean inbreeding coefficient was 0.59 ± 0.53 %. In the regions of the genome with ROHs most frequent in the population (≥20 animals), numerous associations, QTLs and genes related to milk production and composition, fertility parameters, susceptibility to diseases, body conformation, feed efficiency and some characteristics of carcass composition have been reported. The results reflect the existence of a wide genetic diversity in this population and the possibility of carrying out genetic improvement work through selection without affecting inbreeding levels.

Resumen El objetivo fue conocer la estructura poblacional de los animales Holstein del sistema de lechería familiar, identificar posibles orígenes del material genético, conocer el grado de consanguinidad e identificar posibles huellas de selección en el genoma, que permitan vislumbrar las características que se han mejorado a través de los años. El estudio incluyó 270 animales genotipados con el chip GGP-50K®. Después del control de calidad de genotipos, se incluyeron 43,548 SNP autosómicos. Para conocer la estructura poblacional se realizaron análisis de mezclas y componentes principales (CP). Para conocer la consanguinidad genómica y detectar huellas de selección, se usó información de corridas de homocigosidad (ROH). El análisis de mezclas se realizó con el software Admixture, y los de CP, ROH y consanguinidad se realizaron con SVS-v7.6.8. El análisis de mezclas mostró evidencia de seis componentes, todos ligados a familias de sementales Holstein con diferente país de origen. Los CP no evidenciaron estratificación de la población por hato. El coeficiente de consanguinidad promedio fue de 0.59 ± 0.53 %. En las regiones del genoma con ROH más frecuentes en la población (≥20 animales), se han reportado numerosas asociaciones, QTL y genes relacionados con producción y composición de la leche, parámetros de fertilidad, susceptibilidad a enfermedades, conformación corporal, eficiencia alimenticia y algunas características de composición de la canal. Los resultados reflejan la existencia de una amplia diversidad genética en esta población y la posibilidad de realizar trabajos de mejoramiento genético a través de selección sin afectar los niveles de consanguinidad.

Resumen: Esta investigación parte de análisis previos, en los que se abordaron los problemas internos que se suscitan en las organizaciones de contrapoder, esto es, que en un número significativo de los grupos que enfrentan los estragos del neoliberalismo, también se registran luchas por el poder y obtención de privilegios, tal y como acontece en la lucha de los partidos políticos. Dicha manera de proceder deja a ojos vistas que estas actitudes son aprendidas, lo cual se relaciona con el funcionamiento del cerebro humano. En este sentido, un número considerable de las dificultades cotidianas, tienen una fuente enraizada en los genes, así como en el desarrollo cerebral, producto de su evolución. Por ello, el objetivo consiste en exponer la relación de algunos avatares que las personas enfrentan en la actualidad en relación con la herencia biológica.

Abstract: This research is based on previous analyses, in which the internal problems that arise in counter-power organizations were addressed, that is, the fight to obtain privileges. Therefore, this way of proceeding clearly shows that some human attitudes such as the search for obtaining privileges is an individual problem, not due to a political, economic or other system. In the same way, a considerable number of the daily difficulties that we go through individually have a source rooted in genes as well as in brain development, a product of the evolution of the human species. Therefore, the objective is to expose the relationship of some vicissitudes that people currently face in relation to biological inheritance.

Resumo A síndrome VEXAS (vacúolos, enzima E1, cromossoma X, autoinflamação, mutação somática) foi identificada em 2020 por Beck et al, ao analisar o genoma de 2560 doentes com diferentes tipos de manifestações autoinflamatórias. Fizemos uma revisão da literatura com o objetivo de divulgar a evidência científica existente e aumentar o grau de suspeição clínica da comunidade médica. Atualmente, estão identificadas várias mutações associadas a esta síndrome, originando defeitos na ubiquitinação e ativação do sistema imune inato. Da análise fenotípica dos portadores da mutação, foram encontradas características comuns: sexo masculino, idade superior a 50 anos, citopenias, febre e sintomas constitucionais, podendo estar envolvidos todos os órgãos e sistemas com manifestações e proporções variáveis. A natureza inflamatória e multissistémica desta doença representa uma dificuldade acrescida no seu diagnóstico e tratamento, cursando com elevada morbimortalidade. Atualmente, os tratamentos com maior eficácia demonstrada são corticoterapia, azacitidina, inibidores da JAK-1/2 e inibidores da interleucina-6, parecendo também existir benefício com o transplante autólogo de células estaminais. Tendo em conta a sua identificação recente e baixo número de doentes diagnosticados, a maioria dos estudos disponíveis apresentam limitações relacionadas com a metodologia e curta duração de seguimento, imperando a necessidade de ensaios clínicos prospetivos de modo a definir as melhores estratégias terapêuticas e melhorar o prognóstico destes doentes.

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in 2020 by Beck et al, when analyzing the genome of 2560 patients with different types of autoinflammatory manifestations. A literature review was carried out with the aim of disseminating existing scientific evidence and increasing the degree of clinical suspicion of the medical community. Currently, many mutations associated with this syndro-me have been identified, causing defects in the ubiquitylation and activation of the innate immune system. From the phenotypic analyses of the mutation carriers, some common features were found: male, over 50 years old, cytopenias, fever and constitutional symptoms, and all organs and systems with variable manifestations and proportions may be involved. The inflammatory and multi-systemic nature of this disease leads to a diagnostic and treatment challenge, adding to the already existing high morbimortality. Presently, the treatments with greater efficiency are corticosteroid therapy, azacytidine, JAK-1/2 inhibitors and interleukin-6 inhibitors. There are also benefits in autologous stem cell transplants. Given its recent identification and low number of diagnosed patients, most available studies have limitations related to the methodology and short duration of follow-up, prevailing the need for prospective clinical trials in order to define the best therapeutic strategies and to improve these patients’ prognosis.

Abstract Introduction. Vitamin D is required for bone and mineral metabolism and participates in the regulation of the immune response. It is also linked to several chronic diseases and conditions, usually in populations of European descent. Brazil presents a high prevalence of vitamin D deficiency and insufficiency despite the widespread availability of sunlight in the country. Thus, it is important to investigate the role of vitamin D as a risk factor for disease and to establish causal relationships between vitamin D levels and health-related outcomes in the Brazilian population. Objective. To examine genetic variants identified as determinants of serum vitamin D in genome-wide association studies of European populations and check whether the same associations are present in Brazil. If so, these single nucleotide polymorphisms (SNPs) could be developed locally as proxies to use in genetically informed causal inference methods, such as Mendelian randomization. Materials and methods. We extracted SNPs associated with vitamin D from the genome-wide association studies catalog. We did a literature search to select papers ascertaining these variants and vitamin D concentrations in Brazil. Results. GC was the gene with the strongest association with vitamin D levels, in agreement with existing findings in European populations. However, VDR was the most investigated gene, regardless of its non-existing association with vitamin D in the genomewide association studies. Conclusions. More research is needed to validate sound proxies for vitamin D levels in Brazil, for example, prioritizing GC rather than VDR.

Resemen Introducción. La vitamina D es necesaria para el metabolismo óseo y mineral, y participa en la regulación de la respuesta inmunitaria. También está relacionada con enfermedades crónicas en poblaciones europeas. En Brasil, existe una prevalencia elevada de deficiencia e insuficiencia de vitamina D, a pesar de la amplia disponibilidad de luz solar. Por lo tanto, es importante investigar el papel de la vitamina D como factor de riesgo de diversas enfermedades y establecer relaciones causales entre los niveles de vitamina D y los problemas de salud en la población brasileña. Objetivo. Examinar variantes genéticas relacionadas con la vitamina D sérica en estudios de asociación genómica de poblaciones europeas y comprobar si estas mismas están presentes en Brasil. De ser así, estos SNPs podrían utilizarse como proxies en métodos de inferencia causal, tales como la aleatorización mendeliana. Materiales y métodos. A partir del catálogo de estudios de asociación de genoma completo se extrajeron SNPs relacionados con los niveles de vitamina D. Luego se hizo una búsqueda bibliográfica para identificar los artículos que evaluaran estos SNPs y la concentración de vitamina D en Brasil. Resultados. GC fue el gen más fuertemente asociado con los niveles de vitamina D, en concordancia con los resultados existentes en poblaciones europeas. Sin embargo, el gen VDR fue el más investigado, aunque no esté vinculado con la vitamina D en los estudios de asociación de genoma completo. Conclusiones. Se necesita más investigación para validar proxies genéticos de los niveles de vitamina D en Brasil y se recomienda priorizar el gen GC en lugar de VDR.

Abstract Background: High-risk Human Papillomaviruses (HR-HPVs) are the etiological agents of cervical cancer and its preneoplastic lesions. HPV16 and 18 are the most frequent HR-HPV genotypes detected in cervical cancer. HR-HPV genome integration into the host cell is an important event in the carcinogenic process. However, it remains uncertain which stage of cervical carcinogenesis HPV16 and 18 integration occurs in the Chilean population. Aim: The goal of this study was to evaluate HPV16 and HPV18 integration in preneoplastic lesions of the cervix. Methods: DNA was extracted from 108 cervical scrape samples with preneoplastic lesions. HPV was genotyped using PCR and non-radioactive hybridization. The integration status of HPV16 and HPV 18 was determined by evaluating the E2 gene presence through PCR. Results: HPV16 and HPV18 tested positive in 36.1% and 12.0% of samples, respectively. HPV16 was found integrated in 23.1% of HPV 16 cases, while HPV 18 in 100% of samples positive for this viral genotype. Conclusions: HR-HPV integration is an early event in cervical carcinogenesis, occurring in nearly half of preneoplastic lesions and being more frequent in HPV18 than in HPV16. The evaluation of HR-HPV integration can be utilized as a complementary tool for detecting HPV in the Chilean population.

Resumen Introducción: El virus del papiloma humano de alto riesgo (VPH-AR) es responsable del cáncer de cuello uterino y sus lesiones preneoplásicas. Los genotipos VPH16 y VPH18 son los más frecuentes en este cáncer. La integración del VPH-AR en el genoma de la célula hospedera es crucial en la carcinogénesis cervical, pero la etapa en que ocurre en la población chilena es incierta. Objetivo: Evaluar la integración de VPH16 y VPH18 en lesiones pre-neoplásicas de cuello uterino. Métodos: Se analizaron 108 muestras de raspados cervicales. El VPH se genotipificó mediante reacción de polimerasa en cadena (RPC) e hibridación no radiactiva. La integración de VPH16 y VPH18 se determinó por presencia del gen E2 mediante RPC. Resultados: VPH16 y VPH18 se detectaron en 36,1% y 12,0% de las muestras, respectivamente. El VPH16 se integró en 23,1% de los casos de VPH16, mientras que VPH18 se integró en 100% de las muestras positivas para este genotipo. Conclusiones: La integración VPH-AR es un evento temprano en la carcinogénesis cervical que ocurre en casi la mitad de las lesiones pre-neoplásicas y es más frecuente en VPH18 que en VPH16. La evaluación de la integración VPH-AR puede ser una herramienta útil para detectar el virus en la población chilena.

Abstract Phalaenopsis amabilis (L.) Blume commonly called Moth Orchid (Orchidaceae) is a natural orchid species designated as the National Flower of Indonesia for its beautiful flower shape and long-lasting flowering period. Basically, P. amabilis has a long vegetative phase that cause late flowering, about 2 to 3 years for flowering, hence a method to shorten vegetative period is desired. The latest technological approach that can be used to accelerate flowering of P. amabilis is the CRISPR/Cas9 genome editing method to inactivate the GAI (Gibberellic Acid Insensitive) gene as a mutant gene that can accelerate the regulation of FLOWERING TIME (FT) genes flowering biosynthesis pathway. The approach that needs to be taken is to silence the GAI gene with a knockout system which begins with identifying and characterizing the GAI target gene in the P. amabilis which will be used as a single guide RNA. CRISPR/Cas9 mediated knockout efficiency is highly dependent on the properties of the sgRNA used. SgRNA consists of a target sequence, determining its specificity performance. We executed phylogenetic clustering for the PaGAI protein with closely related orchid species such as Dendrobium capra, Dendrobium cultivars and Cymbidium sinensis. SWISS-Model as tool webserver for protein structure homology modeling. Results show that P. amabilis has a specific domain with the occurrence of point mutations in the two conservative domains. Therefore, a single guide RNA reconstruction needs to be implemented. L. L (L. Orchidaceae (Orchidaceae longlasting lasting Basically P desired CRISPRCas9 CRISPRCas CRISPR Cas9 Cas CRISPR/Cas Gibberellic Insensitive FT (FT pathway sequence performance capra sinensis SWISSModel SWISS Model modeling domains Therefore implemented (L

Resumo Phalaenopsis amabilis (L.) Blume, comumente chamada de orquídea mariposa (Orchidaceae), é uma espécie natural de orquídea designada como a flor nacional da Indonésia por seu belo formato de flor e período de floração duradouro. Basicamente, P. amabilis tem uma longa fase vegetativa que causa floração tardia, cerca de 2 a 3 anos para a floração, portanto, um método para encurtar o período vegetativo é desejado. A mais recente abordagem tecnológica que pode ser utilizada para acelerar a floração de P. amabilis é o método de edição do genoma CRISPR/Cas9 para inativar o GAI (Gibberellic Acid Insensitive) que pode ser usado como um gene mutante para acelerar a regulação da floração dos genes FLOWERING TIME (FT), via de biossíntese. Para isto, a melhor abordagem é silenciar o GAI gene com um sistema knockout que deve ser iniciado com a identificação e caracterização do gene alvo GAI no P. amabilis, e que, posteriormente, será utilizado como um único RNA guia. A eficiência de nocaute mediada por CRISPR/Cas9 é altamente dependente das propriedades do sgRNA usados. O SgRNA consiste em uma sequência alvo, determinando seu desempenho de especificidade. Executamos agrupamento filogenético para a proteína PaGAI com espécies de orquídeas intimamente relacionadas, como Dendrobium capra, Dendrobium cultivars e Cymbidium sinensis. SWISS-Model foi utilizado como ferramenta webserver para modelagem de homologia de estruturas de proteínas. Os resultados mostram que P. amabilis possui um domínio específico com ocorrência de mutações pontuais nos dois domínios conservativos. Portanto, uma única reconstrução de RNA guia precisa ser implementada. L. L (L. Blume Orchidaceae, Orchidaceae , (Orchidaceae) duradouro Basicamente P tardia portanto desejado CRISPRCas9 CRISPRCas CRISPR Cas9 Cas CRISPR/Cas Gibberellic Insensitive FT, FT (FT) biossíntese isto posteriormente usados especificidade relacionadas capra sinensis SWISSModel SWISS Model proteínas conservativos Portanto implementada (L (Orchidaceae (FT

Abstract The gall wasp, Leptocybe invasa, poses a significant global threat to Eucalyptus cultivation, by causing substantial economic losses. The objective of this study was to differentiate between resistant and susceptible genotypes by morphological characteristics using image analysis based on the damage caused by the gall wasp. In addition, consensus sequences derived from transposable elements (TEs) and the genome of Eucalyptus spp. Were identified by in silico analysis. Furthermore, another objective was to discriminate Eucalyptus genotypes in response to Leptocybe invasa by conducting molecular analyses involving transposable elements and inter simple sequence markers. For image analysis, the GroundEye ® system was used to collect images of 60 leaves from six genotypes, three of which were resistant and three susceptible. Eucalyptus spp. sequences were obtained from the GenBank database by in silico analysis and pairwise alignments with TE sequences were conducted using BLASTN. Multiple sequence alignment was performed with Clustal Omega, followed by the identification of conserved regions in Jalview. A motif signature was generated using Weblogo. For molecular characterization using ISSR markers and TEs, samples of young leaves were obtained from a total of 80 Eucalyptus seedlings, of which 50 were classified as resistant and 30 as susceptible to L. invasa. It was possible to distinguish gall wasp susceptible and resistant genotypes by image analysis. In silico analysis enabled the identification of conserved regions in the Eucalyptus spp. genome, which were associated with proteins involved in secondary metabolite production, e.g., terpenes, which play a role in the response to L. invasa. The discrimination capacity of TEs and ISSR primers was demonstrated and bands were generated that could be used to identify resistant genotypes. However, increasing the number of markers required to discriminate genotypes in both cases is suggested. cultivation losses addition (TEs spp Furthermore 6 BLASTN Omega Jalview Weblogo 8 seedlings 5 3 L production eg e g e.g. terpenes However suggested e.g

Resumo A vespa-da-galha, Leptocybe invasa, representa uma ameaça global significativa para o cultivo de Eucalyptus, causando consideráveis prejuízos econômicos. O objetivo deste estudo foi diferenciar entre genótipos resistentes e suscetíveis por meio de características morfológicas, usando análise de imagem com base nos danos causados pela vespa-da-galha. Além disso, sequências de consenso derivadas de elementos transponíveis (TEs) e do genoma de Eucalyptus spp. foram identificadas por análise in silico. Outro objetivo foi discriminar genótipos de Eucalyptus em resposta a L. invasa, por meio de análises moleculares envolvendo elementos transponíveis e marcadores de sequências simples intercaladas (ISSR). Para a análise de imagem, o sistema GroundEye® foi utilizado para coletar imagens de 60 folhas de seis genótipos, sendo três resistentes e três suscetíveis. Sequências de Eucalyptus spp. foram obtidas do banco de dados GenBank por análise in silico, e alinhamentos de sequências em pares com sequências de TE foram conduzidos usando o BLASTN. Alinhamento de múltiplas sequências foi realizado com Clustal Omega, seguido pela identificação de regiões conservadas no Jalview. Uma assinatura de motivo foi gerada usando o Weblogo. Para a caracterização molecular usando marcadores ISSR e TEs, amostras de folhas jovens foram obtidas de um total de 80 mudas de Eucalyptus, das quais 50 foram classificadas como resistentes e 30 como suscetíveis a L. invasa. Foi possível distinguir genótipos suscetíveis e resistentes à vespa-das-galhas por meio da análise de imagem. A análise in silico permitiu a identificação de regiões conservadas no genoma de Eucalyptus spp., associadas a proteínas envolvidas na produção de metabólitos secundários, como terpenos, que desempenham um papel na resposta a L. invasa. A capacidade de discriminação de TEs e iniciadores ISSR foi demonstrada, e bandas foram geradas que poderiam ser usadas para identificar genótipos resistentes. No entanto, sugere-se aumentar o número de marcadores necessários para discriminar genótipos em ambos os casos. vespadagalha, vespadagalha vespa galha, galha vespa-da-galha invasa econômicos morfológicas vespadagalha. galha. disso (TEs spp L ISSR. . (ISSR) GroundEye 6 BLASTN Omega Jalview Weblogo 8 5 3 vespadasgalhas galhas secundários terpenos demonstrada entanto sugerese sugere se casos (ISSR

Abstract The emergence of antibiotic resistance (AR) in bacteria is becoming an alarming health concern because it allows them to adapt themselves to changing environments. It is possible to prevent the spread of AR in many ways, such as reducing antibiotic misuse in human and veterinary medicine. Streptococcus pseudopneumoniae is one of these AR bacterial species that can cause pneumonia in humans and is responsible for high mortality and morbidity rates. It is oval shaped gram-positive bacterium that shows resistance to several antibiotics like penicillin, tetracycline, ciprofloxacin, erythromycin, and co-trimoxazale and no approved vaccine is available to overcome diseases of the pathogen. Thus, substantial efforts are necessary to select protective antigens from a whole genome of pathogens that are easily tested experimentally. The in silico designed vaccine was safe and potent in immunizing individuals against the aforementioned pathogens. Herein, we utilized a subtractive genomic approach to identify potential epitope-based vaccine candidates against S. pseudopneumoniae. In total, 50850 proteins were retrieved from the NCBI, representing the complete genome of S. pseudopneumoniae. Out of the total, CD-HIT analysis identified 1022 proteins as non-redundant and 49828 proteins as redundant and further subjected for subcellular localization in which bulk of proteins was located in the cytoplasm, with seven extracellular proteins (penicillin-binding protein, alpha-amylase, solute-binding protein, hypothetical protein, CHAP domain-containing protein, polysaccharide deacetylase family protein, hypothetical protein). Six immune cells epitopes (SNLQSENDRL, RNDSLQKQAR, NPTTTSEGF, KVKKKNNKK, AYSQGSQKEH, and SVVDQVSGDF) were predicted with the help of the IEDB server. To design a multi-epitopes vaccine these immune cell epitopes were together by GPGPG and adjuvant linker to enhance immune response efficacy. The 3D structure of the designed vaccine was modeled and conducted molecular docking and dynamic simulation studies were to check the binding efficacy with immune cells receptor and dynamic behavior of the docked complex. Finally, we concluded that the designed vaccine construct can provoke a proper and protective immune response against S. pseudopneumoniae. (AR environments ways medicine rates grampositive gram positive penicillin tetracycline ciprofloxacin erythromycin cotrimoxazale co trimoxazale pathogen Thus experimentally Herein epitopebased epitope based S total 5085 NCBI CDHIT CD HIT 102 nonredundant non 4982 cytoplasm penicillinbinding protein alphaamylase, alphaamylase alpha amylase, amylase alpha-amylase solutebinding solute domaincontaining domain containing protein. . protein) SNLQSENDRL, SNLQSENDRL (SNLQSENDRL RNDSLQKQAR NPTTTSEGF KVKKKNNKK AYSQGSQKEH SVVDQVSGDF server multiepitopes multi D complex Finally 508 10 498 50 1 49 5 4

Resumo O surgimento de resistência a antibióticos (AR) em bactérias tem se tornando uma preocupação sanitária alarmante, uma vez que permite que elas se adaptem a ambientes em constante alteração. É possível prevenir a disseminação da RA de várias maneiras, como reduzir o uso indevido de antibióticos na medicina humana e veterinária. O Streptococcus pseudopneumoniae é uma dessas espécies bacterianas de AR que podem causar pneumonia em humanos e são responsáveis por altas taxas de mortalidade e morbidade. É uma bactéria gram-positiva de forma oval que mostra resistência a diversos antibióticos como penicilina, tetraciclina, ciprofloxacina, eritromicina e cotrimoxazale, além disso, nenhuma vacina aprovada está disponível para superar as doenças do patógeno. Assim, esforços substanciais são necessários para selecionar antígenos protetores de todo um genoma de patógenos que são facilmente testados experimentalmente. A vacina projetada in silico foi considerada segura e potente na imunização de indivíduos contra os patógenos mencionados. Neste trabalho, utilizamos uma abordagem genômica subtrativa para identificar potenciais candidatos a vacinas baseadas em epítopos contra S. pseudopneumoniae. No total, 50.850 proteínas foram recuperadas do NCBI, representando o genoma completo de S. pseudopneumoniae. Do total, a análise de CD-HIT identificou 1.022 proteínas como não redundantes e 49.828 proteínas como redundantes e posteriormente submetidas à localização subcelular na qual a maior parte das proteínas estava localizada no citoplasma, com sete proteínas extracelulares (proteína de ligação à penicilina, alfa- amilase, proteína de ligação a soluto, proteína hipotética, proteína contendo domínio CHAP, proteína da família polissacarídeo desacetilase, proteína hipotética). Seis epítopos de células imunes (SNLQSENDRL, RNDSLQKQAR, NPTTTSEGF, KVKKKNNKK, AYSQGSQKEH e SVVDQVSGDF) foram previstos com a ajuda do servidor IEDB. Para projetar uma vacina de múltiplos epítopos, esses epítopos de células imunes foram reunidos por GPGPG e um ligante adjuvante para aumentar a eficácia da resposta imune. A estrutura 3D da vacina projetada foi modelada e conduzido estudos de docking molecular e simulação dinâmica para verificar a eficácia da ligação com o receptor de células imunes e o comportamento dinâmico do complexo docked. Finalmente, concluímos que a construção da vacina projetada pode provocar uma resposta imune adequada e protetora contra S. pseudopneumoniae. (AR alarmante alteração maneiras veterinária morbidade grampositiva gram positiva penicilina tetraciclina ciprofloxacina cotrimoxazale disso patógeno Assim experimentalmente mencionados trabalho S total 50850 50 850 50.85 NCBI CDHIT CD HIT 1022 1 022 1.02 49828 49 828 49.82 citoplasma alfa amilase soluto hipotética CHAP desacetilase hipotética. . hipotética) SNLQSENDRL, SNLQSENDRL (SNLQSENDRL RNDSLQKQAR NPTTTSEGF KVKKKNNKK SVVDQVSGDF IEDB D docked Finalmente 5085 5 85 50.8 102 02 1.0 4982 4 82 49.8 508 8 50. 10 0 1. 498 49.