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Introducción: El trastorno del espectro autista (TEA) es una alteración del neurodesarrollo heterogéneo y multifactorial de aparición temprana y que se desarrolla a lo largo de la vida de los pacientes. Las principales características del TEA son la falta de comunicación e interacción social, intereses delimitados y conductas sensoriales y motoras reiterativas, y que generalmente son personas dependientes de por vida. Comorbilidades como la periodontitis, alergias, trastornos gastrointestinales, disbiosis y microbiota oral e intestinal alterada son comunes en estos sujetos. Objetivo: Identificar las características del microbioma salival en sujetos con TEA de 6 a 18 años de edad y sujetos neurotípicos mediante una revisión narrativa de la literatura. Material y métodos: Se llevó a cabo una búsqueda en las siguientes bases de datos: Pubmed, Web of Science, Cochrane y Google académico, entre 2009 y 2024. Resultados: Fueron seleccionados cuatro artículos para el análisis y extracción de los datos Conclusión: Existe una relación entre la composición y características del microbioma de la saliva y la etiopatogenia y manifestación de enfermedades inflamatorias, neurodegenerativas y trastornos del neurodesarrollo, entre ellas el trastorno del espectro autista en la población infantil.

This dataset was obtained over repeated field-trips to the Sierra Nevada Massif and contains the physical parameters of its recognised water-bodies. It therefore defines the general cartography of the area, with data on individual features regarding the geographical coordinates (x, y, z), dimensions (length, width, depth), flooded surface area, stored water volume, shoreline length, as well as the area of associated green fringes and the length of their borders. These data were basically obtained using straightforward techniques, such as GPS, tape measurements and photographic interpretation. The data were then previously used to define the role of these water-bodies in the hydrology of the massif: relationships between number of water-bodies and water volumes between 2700 and 3200 m a.s.l. regarding watersheds (Mediterranean, Atlantic and total massif), relationships with green fringes, moment of maximum snowmelt discharge and the estimation of different components of water volumes discharged during the main period of thaw. The formation patterns of each water-body were also identified in their situational context, and the role played by each formation process on the stored water volume: the water-bodies close to the peak line (2918 m mean altitude) are highly dependant on the glacial processes that created the hollows in which they are located. Slope instability created water-bodies mainly located at lower altitudes and are more fragile due intense slope dynamics. In any case, these hydrological data show a paradoxical behaviour because despite its higher xericity, the Mediterranean watershed generally has higher water contents than the Atlantic. The cause of this hydrological imbalance between watersheds seems to be unrelated to the formation processes of the existing water-bodies.Sierra Nevada is considered to be clearly representative of a high mountain Mediterranean environment, where the data collected are a starting point to define the different habitats or for investigation of the hydrological processes of the massif and their evolution. Lack of such data is often a problem that in the present case is solved with this contribution.

The measurement of band 3 (AE1, SLC4A1, CD233) content of red cells by eosin-5- maleimide (EMA) staining is swiftly replacing conventional osmotic fragility (OF) test as a tool for laboratory confirmation of hereditary spherocytosis across the globe. Our group has systematically evaluated the EMA test as a method to screen for a variety of anemias in the last 10 years, and compared these results to those obtained with the osmotic gradient ektacytometry (osmoscans) which we have used over three decades. Our overall experience allowed us to characterize the distinctive patterns with the two tests in several congenital erythrocyte membrane disorders, such as hereditary spherocytosis (HS), hereditary elliptocytosis (HE), Southeast Asian Ovalocytosis (SAO), hereditary pyropoikilocytosis (HPP) variants, erythrocyte volume disorders, various red cell enzymopathies, and hemoglobinopathies. A crucial difference between the two methodologies is that osmoscans measure red blood cell deformability of the entire sample of RBCs, while the EMA test examines the band 3 content of individual RBCs. EMA content is influenced by cell size as smaller red cells have lower amount of total membrane than larger cells. The SAO mutation alters the EMA binding site resulting in a lower EMA MCF even as the band 3 content itself is unchanged. Thus, EMA scan results should be interpreted with caution and both the histograms and dot plots should be analyzed in the context of the clinical picture and morphology.

Introducción: los genes codifican para una información potencial, pero la manera en que la secuencia de ADN se traduce en un fenotipo determinado no depende directamente de la secuencia en sí, sino de la interaccion con factores ambientales, y aquí es donde los diferentes mecanismos epigenéticos vienen a desempeñar un papel fundamental. La vía de señalización Notch está relacionada con una enorme diversidad de procesos del desarrollo embrionario, y su disfunción está implicada en el origen de muchas malformaciones congénitas. Objetivo: se realizó una revisión bibliográfica con el objetivo de proveer información actualizada sobre los mecanismos epigenéticos y la vía de señalizacion Notch en el proceso de desarrollo embrionario y su importancia en la implementación de estrategias para la prevención de diferentes defectos congénitos en humanos. Métodos: la literatura médica publicada en idiomas español e inglés se recopiló a través de buscadores como PubMed, Medline, Scielo, Lilacs y la biblioteca Cochrane en enero de 2018 usando palabras clave apropiadas. Conclusiones: el hecho de que las alteraciones epigenéticas, en contraste con los cambios genéticos como las mutaciones, son potencialmente reversibles, tiene importantes implicaciones para la implementación de estrategias para la prevención de diferentes defectos congénitos en humanos.

Objective: To identify a core set of research procedures for genetic epidemiology that need to be learnt to obtain a scientific degree in subjects related to basic biomedical sciences. Methods: We discuss the results of six research projects in the area of genetic epidemiology about complex phenotypes. We show in the studied phenotypes the higher prevalence in relatives compared to the general population, the higher risk among first-degree relatives of affected individuals, and the segregation mode of each phenotype. Meanwhile, to show the influence of environmental factors and various analysis of gene-environment interaction using different models. Finally, we discuss the common research procedures followed during these studies. Results: research studies in the subject of genetic epidemiology can be divided into three broad categories: (1) those that aim at describing the distribution of a disease or a determinant at the level of a population of interest (familiar hereditary angioedema, reproductive failure); (2) those that attempt to investigate a potential aetiological link between one or more specific determinants and a disease of interest (congenital birth defects, cervix cancer, and longevity) and (3) those aimed at evaluating the effectiveness of an intervention applied to groups of individuals in the population (hypoplasia foetal thymus). Conclusions: We have identified, a set of theoretical topics as well as study techniques and methodologies for the approach of research projects in genetic epidemiology, could be considered as the general and specific bases for postgraduate teaching in relation to obtaining a doctorate in basic biomedical sciences in our University and could be useful to other Universities of similar contexts.

Objective: To determine the chromosomal constitution of infertile individuals. Methodology: A cross-sectional descriptive study was carried out based on the results of the karyotypes in peripheral blood in infertile individuals. The sample consisted of infertile patients of both sexes, from the province of Villa Clara who were studied in the Cytogenetics Laboratory of the Provincial Center of Genetics, between the years 1991 and 2017. We analyzed the chromosome formulas obtained and the age of the subjects at the time of diagnosis. Results: 232 individuals were studied, of which 97 were males and 135 females. 27.15% of the karyotypes were positive and in all, the sex chromosomes were involved. We found numerical chromosomal aberrations in thirty-one men (32%) in relation to Klinefelter Syndrome and variants. Thirty-two women (23.7%) had positive karyotype, where structural aberrations of the X chromosome and mosaicism predominated. The diagnosis of seven women with karyotype 46, XY (Androgen insensitivity Syndrome) and two 45,X/46,XY (Mixed gonadal dysgenesis) was significant. The average age at diagnosis in men was 31 years and in women 22 years. Conclusions: Karyotyping is an essential study in infertility. The detailed clinical examination of this type of patients would facilitate early diagnosis and adequate therapeutics.

Nanomaterials are commonly considered as those materials in which the shape and molecular composition at a nanometer scale can be controlled. Subsequently, they present extraordinary properties that are being useful for the development of new and improved applications in many fields, including medicine. In dentistry, several research efforts are being conducted, especially during the last decade, for the improvement of the properties of materials used in dentistry. The objective of the present article is to offer the audience a complete and comprehensive review of the main applications that have been developed in dentistry, by the use of these materials, during the last two decades. It was shown how these materials are improving the treatments in mainly all the important areas of dentistry, such as endodontics, periodontics, implants, tissue engineering and restorative dentistry. The scope of the present review is, subsequently, to revise the main applications regarding nano-shaped materials in dentistry, including nanorods, nanofibers, nanotubes, nanospheres/nanoparticles, and zeolites and other orders porous materials. The results of the bibliographic analysis show that the most explored nanomaterials in dentistry are graphene and carbon nanotubes, and their derivatives. A detailed analysis and a comparative study of their applications show that, although they are quite similar, graphene-based materials seem to be more promising for most of the applications of interest in dentistry. The bibliographic study also demonstrated the potential of zeolite-based materials, although the low number of studies on their applications shows that they have not been totally explored, as well as other porous nanomaterials that have found important applications in medicine, such as metal organic frameworks, have not been explored. Subsequently, it is expected that the research effort will concentrate on graphene and zeolite-based materials in the coming years. Thus, the present review paper presents a detailed bibliographic study, with more than 200 references, in order to briefly describe the main achievements that have been described in dentistry using nanomaterials, compare and analyze them in a critical way, with the aim of predicting the future challenges.

Each lake complex must be understood before attempting any regional synthesis leading us to view these water-bodies as indicators of regional climate change. Therefore, in order to improve knowledge of these Mediterranean biotopes, we examined the dependence of the fringes of hygrophilous communities surrounding the water-bodies (green fringes) on their hydrological and geomorphological features. The climate of the western sector of this massif is cryo−oromediterranean, where thawing produces 53 hm3 of run-off and 11 hm3 of sub-surface flow. Part of this water is stored in 123 water-bodies located from 2480 to 3200 m a.s.l., 72 of which (58%) are located on the south-facing Mediterranean watershed. The total surface of the water sheet is approximately 170,000 m2, and volume is approximately 215,000 m3, of which 140,000 m3 (65%) are stored in the south-facing water-bodies. Green fringes surrounding 84 water-bodies have a total surface area of approximately 186,000 m2. Surprisingly, the more xeric Mediterranean watershed holds 58 such fringes (149,000 m2, 80%) while 26 are found on the Atlantic watershed (38,000 m2, 20%). Green fringes are mainly associated with small water-bodies (3), which occupy 148,000 m2 on the Mediterranean watershed, while on the Atlantic side, green fringes occupy 31,000 m2. Sierra Nevada also has 46 times higher water-efficiency in the smaller water-bodies than in the large ones; 16.4 and 335.8 times higher on the Atlantic and Mediterranean watersheds, respectively. The differences in gradient of the massif hillsides must largely explain this uneven behaviour.