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Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation–inhibition imbalances and to anomalies in brain volumes.

IntroductionAccurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct epidemiological studies in defined geo-cultural contexts.MethodsWe used a population screening approach to estimate the prevalence of ASD in the Centro region of Portugal, using a harmonized protocol as part of the Autism Spectrum Disorders in the European Union (ASDEU) project.ResultsThe overall prevalence was estimated at 0.5% (95% CI 0.3–0.7), higher in schools with Autism Units (3.3%, 95%CI 2.7–3.9) than in regular schools (0.3%, 95% CI 0.1–0.5) or schools with Multiple Disability Units (0.3%, 95% CI 0.04–0.6).DiscussionThe results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identified in individuals with ASD and the global networks that link those processes together. For a curated list of 1216 NS candidate genes, identified in multiple databases and the literature, we searched for ultra-rare (UR) loss-of-function (LoF) variants in the whole-exome sequencing dataset from the Autism Sequencing Consortium (N = 3938 cases). Filtering for population frequency was carried out using gnomAD (N = 60,146 controls). NS genes with UR LoF variants were used to construct a network of protein–protein interactions, and the network’s biological communities were identified by applying the Leiden algorithm. We further explored the expression enrichment of network genes in specific brain regions. We identified 356 variants in 208 genes, with a preponderance of UR LoF variants in the PDE11A and SYTL3 genes. Expression enrichment analysis highlighted several subcortical structures, particularly the basal ganglia. The interaction network defined seven network communities, clustering synaptic and neurotransmitter pathways with several ubiquitous processes that occur in multiple organs and systems. This approach also uncovered biological pathways that are not usually associated with ASD, such as brain cytochromes P450 and brain mitochondrial metabolism. Overall, the community analysis suggests that ASD involves the disruption of synaptic and neurotransmitter pathways but also ubiquitous, but less frequently implicated, biological processes.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment.

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gathered a list of 46 NMD factors and regulators and investigated the role of genetic variants in these genes in ASD. By conducting a comprehensive search for Single Nucleotide Variants (SNVs) in NMD genes using Whole Exome Sequencing data from 1828 ASD patients, we identified 270 SNVs predicted to be damaging in 28.7% of the population. We also analyzed Copy Number Variants (CNVs) from two cohorts of ASD patients (N = 3570) and discovered 38 CNVs in 1% of cases. Importantly, we discovered 136 genetic variants (125 SNVs and 11 CNVs) in 258 ASD patients that were located within protein domains required for NMD. These gene variants are classified as damaging using in silico prediction tools, and therefore may interfere with proper NMD function in ASD. The discovery of NMD genes as candidates for ASD in large patient genomic datasets provides evidence supporting the involvement of the NMD pathway in ASD pathophysiology.

Chondrichthyes are animals distributed throughout the world, and can occur in tropical, subtropical, temperate or cold waters, being an important group for the understanding of aquatic ecosystems, whether marine or freshwater, as they occupy the top of the trophic chain, exercising significant effects on the food chain in controlling populations at lower levels. The National Curriculum Parameters recommend the use of innovative strategies and support materials in the teaching-learning process. This study aimed to develop a teaching material to assist this process in zoology with an emphasis on Chondrichthyes for high school students. The work was carried out by means of a survey in the nature science textbooks of the Moderna publisher approved by the National Didactic Book Plan (PNLD), together with the competencies proposed by the National Common Curricular Base (BNCC). Audiovisual content can be a valuable tool for teaching actions, especially when considering inclusion. With this, a video was created with the objective of bringing knowledge to the students, containing information about the general biology of the Chondrichthyes as free teaching material of easy understanding, access and alternative for the formation of the students' knowledge about the diversity and conservation of sharks, rays and chimeras. [ABSTRACT FROM AUTHOR]

The process of artificial hibridization in orchids is used to obtain new varieties. The objective of the present paper was to select genotypes of Dendrobium favourable for in vitro propagation for commercial utilization through crossings and self polinization of selected matrice plants. Fifteen different plants with contrasting colors, flower sizes and plant heighs were used; the flowers were artificially polinated and the seeds germinated in vitro on MS medium, with half concentration of nutrients. The following crossings were made D9 x D7; D11 x Df22; D6 x D15; D9 x D2; D16 x D15; D5 x D9; D14 x D7; D7 x D14; D4 x D9; D6 x D9; D3 x D8; and the self polinizations: Df22; D7; D5; D21; D2; D15; D8; D23; D3 and D6. The obtained plants were avaluated for: plant heigh, number of roots, fresh and dry matter weight. The best results was observed in the following crosses D9 x D7; D11 x Df22; D6 x D15; D16 x D15 and D14 x D7 and for self polinizations Df22 and D7.O processo de hibridação artificial em orquídeas é utilizado para obtenção de novas variedades. O trabalho teve como objetivo a seleção de genótipos de Dendrobium favoráveis à propagação in vitro em escala comercial através de cruzamentos e autofecundações de plantas matrizes selecionadas. Foram utilizadas 15 plantas com características contrastantes de coloração, tamanho das flores e altura da planta; as flores polinizadas artificialmente e as sementes germinadas in vitro em meio MS, com metade da concentração dos macronutrientes. Foram realizados os cruzamentos: D9 x D7; D11 x Df22; D6 x D15; D9 x D2; D16 x D15; D5 x D9; D14 x D7; D7 x D14; D4 x D9; D6 x D9; D3 x D8; e as autofecundações: Df22; D7; D5; D21; D2; D15; D8; D23; D3 e D6. As plantas resultantes do cultivo foram avaliadas para as características: altura da planta, número de raízes, peso das massas fresca e seca total. Os melhores resultados para as características analisadas foram observados nos cruzamentos D9 x D7; D11 x Df22; D6 x D15; D16 x D15 e D14 x D7, e nas autofecundações Df22 e D7.

Pinus caribaea var. hondurensis (Sénécl) Barr. & Golf. is a tropical pine that naturally occurs in lowland areas of Belize, El Salvador, Guatemala, Honduras, Nicaragua, and eastern Mexico. It has been one of the most studied tropical pines and the one with the most commercial importance in Brazil. The objective of this work was to select the best provenances for plantations and best trees in families for the establishment of seed orchards. For that a trial with five provenances and 47 open-pollinated families was planted near Planaltina, Federal District, in the Cerrado Region of Brazil. The provenances tested were Poptun (Guatemala), Gualjoco, Los Limones, El Porvenir and Santa Cruz de Yojoa (Honduras) and assessed at 12 years of age. Poptun and Gualjoco had larger volume, and Los Limones and El Porvenir the lowest incidence of forks and foxtails. Individual tree heritabilities for volume, stem form and branch diameter were 0.34, 0.06, and 0.26 respectively. More than 90% of the trees had defects, common in unimproved P. caribaea. Selection criteria for quality traits need to be relaxed in the first generation of breeding to allow for larger genetic gains in productivity. Results from this test compared with P. caribaea var. hondurensis trials in other Brazilian, Colombian and Venezuelan sites suggest that provenance x site and family x site interactions are not as strong as in other pine species.