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Introducción: La miocardiopatía hipertrófica (MCH) constituye una enfermedad compleja y variable en cuanto a morfología, fisiopatología, pronóstico y sobrevida. Se caracteriza por una hipertrofia del ventrículo izquierdo, aunque en ocasiones puede ser biventricular o ventricular derecha aislada. En la edad pediátrica predominan las causas no sarcoméricas. La ecocardiografía es el método diagnóstico más utilizado para caracterizar la morfología y repercusión hemodinámica, sin embargo, la resonancia magnética cardíaca (RMC) es de elección por aportar mayores ventajas morfológicas y funcionales. Las pruebas genéticas son de gran importancia en la determinación del diagnóstico etiológico, manejo terapéutico y pronóstico. El tratamiento tiene como objetivo principal mejorar la capacidad funcional y aliviar los síntomas. Los betabloqueantes no vasodilatadores son considerados de primera líneay en algunos casos se puede recurrir a terapias avanzadas como disopiramida o terapia de reducción septal (TRS), uso del cardiodesfibrilador implantable (CDI), y en ocasiones se debe considerar trasplante cardiaco en pacientes con síntomas refractarios al tratamiento médico y en MCH del tipo obstructivo. Materiales y métodos: Estudio observacional, descriptivo, corte transversal. Resultados: Se estudiaron 12 pacientes, desde enero de 2020 a diciembre de 2022, con edades comprendidas desde 5 meses hasta 16 años, diagnosticados con MCH de presentación clínica variable y de distintas etiologías. Conclusión: La MCH de causas no sarcoméricas como los síndromes malformativos y errores innatos del metabolismo son las que tienen peor pronóstico y sobrevida. La finalidad de detectar precozmente la MCH es el inicio temprano de la terapia específica, para así retrasar el compromiso cardiovascular y mejorar la sobrevida.

Introduction: Hypertrophic cardiomyopathy (HCM) is a complex and variable disease in terms of morphology, pathophysiology, prognosis and survival. It is characterized by left ventricular hypertrophy, although it can sometimes be biventricular or isolated right ventricular. In the pediatric population, non-sarcomeric causes predominate. Echocardiography is the most widely used diagnostic method to characterize morphology and hemodynamic repercussions; however, cardiac magnetic resonance imaging (CMR) is preferred because it provides greater morphological and functional advantages. Genetic tests are of great importance in determining the etiological diagnosis, therapeutic management and prognosis. The main objective of the treatment is to improve functional capacity and alleviate symptoms. Non-vasodilator beta-blockers are considered first-line treatment and in some cases advanced therapies such as disopyramide or septal reduction therapy (SRT), use of implantable cardioverter-defibrillator (ICD) can be used; heart transplantation should be considered in patients with symptoms refractory to medical treatment and in HCM of the obstructive type. Materials and methods: This was an observational, descriptive, cross-sectional study. Results: 12 patients were studied, from January 2020 to December 2022, with ages ranging from 5 months to 16 years, diagnosed with HCM of variable clinical presentation and of different etiologies. Conclusion: HCM from non-sarcomeric causes such as malformation syndromes and inborn errors of metabolism have the worst prognosis and survival. The purpose of early detection of HCM is the early initiation of specific therapy, in order to delay cardiovascular compromise and improve survival.

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Pastures based on perennial monocotyledonous plants are the principal source of nutrition for ruminant livestock in tropical and subtropical areas across the globe. The Urochloa genus comprises important species used in pastures, and these mainly include Urochloa brizantha, Urochloa decumbens, Urochloa humidicola, and Urochloa ruziziensis. Despite their economic relevance, there is an absence of genomic-level information for these species, and this lack is mainly due to genomic complexity, including polyploidy, high heterozygosity, and genomes with a high repeat content, which hinders advances in molecular approaches to genetic improvement. Next-generation sequencing techniques have enabled the recent release of reference genomes, genetic linkage maps, and transcriptome sequences, and this information helps improve our understanding of the genetic architecture and molecular mechanisms involved in relevant traits, such as the apomictic reproductive mode. However, more concerted research efforts are still needed to characterize germplasm resources and identify molecular markers and genes associated with target traits. In addition, the implementation of genomic selection and gene editing is needed to reduce the breeding time and expenditure. In this review, we highlight the importance and characteristics of the four main species of Urochloa used in pastures and discuss the current findings from genetic and genomic studies and research gaps that should be addressed in future research.

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This review was carried out with the purpose of contributing to the discussion on the equations used in calculating the Polymorphism Information Content (PIC) of molecular markers. PIC measures the ability of a marker to detect polymorphisms, and therefore has enormous importance in selecting markers for genetic studies. We perform a summary analysis of PIC and its difference in relation to heterozygosity, another parameter used to evaluate the quality of a marker, presenting and discussing the several equations registered in the literature for both dominant and codominant markers. Finally, we present a brief direction on estimating PIC for dominant markers.

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BACKGROUND: Genetic studies have been consistent that bipolar disorder type I (BPI) runs in families and that this familial aggregation is strongly influenced by genes. In a preliminary study, we proved that anxiety trait meets endophenotype criteria for BPI. METHODS: We assessed 619 individuals from the Central Valley of Costa Rica (CVCR) who have received evaluation for anxiety following the same methodological procedure used for the initial pilot study. Our goal was to conduct a multipoint quantitative trait linkage analysis to identify quantitative trait loci (QTLs) related to anxiety trait in subjects with BPI. We conducted the statistical analyses using Quantitative Trait Loci method (Variance-components models), implemented in Sequential Oligogenic Linkage Analysis Routines (SOLAR), using 5606 single nucleotide polymorphism (SNPs). RESULTS: We identified a suggestive linkage signal with a LOD score of 2.01 at chromosome 2 (2q13-q14). LIMITATIONS: Since confounding factors such as substance abuse, medical illness and medication history were not assessed in our study, these conclusions should be taken as preliminary. CONCLUSIONS: We conclude that region 2q13-q14 may harbor a candidate gene(s) with an important role in the pathophysiology of BPI and anxiety.

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En el año 2008, se crea alasMEDIGEN: Sistema Informático de Genética Médica, el cual tiene como objetivo recoger los datos obtenidos por los diferentes estudios genéticos que se llevan a cabo en el Centro Nacional de Genética Médica; cuenta con siete módulos que gestionan de forma independiente su negocio y comparten la misma base de datos: Registro Cubano de Enfermedades Genéticas, Registro Cubano de Malformaciones Congénitas, Registro Cubano de Discapacidades, Registro Cubano de Discapacidad Intelectual, Registro Cubano de Gemelos, Registro Cubano de Historias Clínicas, Registro Cubano de Anomalías Cromosómicas, Registro Cubano de Enfermedades Comunes y Teleconsulta. En el año 2009 se crea el Marco Regulatorio del Grupo de Gestión de Integración de Soluciones, el cual plantea que todos los sistemas informáticos de salud pública deben presentar una arquitectura orientada a servicios, ajustándose a la integración a nivel de servicios web. Este artículo tiene como objetivo describir las funcionalidades del producto alasMEDIGEN en su versión 1.1 así como los servicios web del Registro Informatizado de la Salud que consume, contribuyendo a que la información que se gestiona en los diferentes estudios de genética médica sea confiable, y esté centralizada. Esta orientación a servicios agiliza el desarrollo de muchas investigaciones científicas en el campo de la genética médica y garantiza la integridad de la información(AU)

In 2008, alasMediGen (Medical Genetics Computer System) was created. This system is aimed to collect the data obtained from the different genetic studies carried out at the National Center of Medical Genetics. It has seven modules that manage their businesses independently and share the same database: Cuban Register of Genetic Diseases, Cuban Register of Congenital Malformations, Cuban Register of Physical Disabilities, Cuban Register of Mental Deficiency, Cuban Register of Twins, Cuban Register of Clinical Records, Cuban Register of Chromosome Anomalies, Cuban Register of Common Diseases, and Teleconsultation. In 2009, the regulations stating that every computer system in Public Health must have an architecture oriented to the services were created; allowing the integration through web services. This paper is intended to describe the functionalities of the alasMediGen product in its 1.1 version as well as the web services provided by the Health Computerized System consumed by the system, allowing that the information managed in different studies of medical genetics to be reliable and centralized. This service oriented architecture speeds up the development of many scientific researches in the field of medical genetics and ensures data integrity(AU)

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OBJECTIVE: HLA-G has well recognized tolerogenic properties in physiological and nonphysiological conditions. The 3' untranslated region (3'UTR) of the HLA-G gene has at least 3 polymorphic sites (14-bpINS/DEL, +3142C/G, and +3196C/G) described as associated with posttranscriptional influence on messenger RNA production; however, only the 14-bpINS/DEL and +3142C/G sites have been studied in systemic lupus erythematosus (SLE). METHODS: We investigated the HLA-G 3'UTR polymorphic sites (14-bpINS/DEL, +3003C/T, +3010C/G, +3027A/C, +3035C/T, +3142C/G, +3187A/G, and +3196C/G) in 190 Brazilian patients with SLE and 282 healthy individuals in allele, genotype, and haplotype analyses. A multiple logistic regression model was used to assess the association of the disease features with the HLA-G 3'UTR haplotypes. RESULTS: Increased frequencies were observed of the 14-bpINS (p = 0.053), +3010C (p = 0.008), +3142G (p = 0.006), and +3187A (p = 0.013) alleles, and increased frequencies of the 14-bpINS-INS (p = 0.094), +3010 C-C (p = 0.033), +3142 G-G (p = 0.021), and +3187 A-A (p = 0.035) genotypes. After Bonferroni correction, only the +3142G (p = 0.05) and +3010C (p = 0.06) alleles were overrepresented in SLE patients. The UTR-1 haplotype (14-bpDEL/+3003T/+3010G/+3027C/+3035C/+3142C/+3187G/+3196C) was underrepresented in SLE (pcorr = 0.035). CONCLUSION: These results indicate that HLA-G 3'UTR polymorphic sites, particularly +3142G and +3010C alleles, were associated with SLE susceptibility, whereas UTR-1 was associated with protection against development of SLE.

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