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Background: Loxoscelism refers to a set of clinical manifestations caused by the bite of spiders from the Loxosceles genus. The classic clinical symptoms are characterized by an intense inflammatory reaction at the bite site followed by local necrosis and can be classified as cutaneous loxoscelism. This cutaneous form presents difficult healing, and the proposed treatments are not specific or effective. This study aimed to evaluate the protective effect of mesenchymal stromal cells-derived secretome on dermonecrosis induced by Loxosceles intermedia spider venom in rabbits. Methods: Sixteen rabbits were distributed into four groups (n = 4). Except for group 1 (G1), which received only PBS, the other three groups (G2, G3, and G4) were initially challenged with 10 µg of L. intermedia venom, diluted in 100 µL of NaCl 0.9%, by intradermic injection in the interscapular region. Thirty minutes after the challenge all groups were treated with secretome, except for group 2. Group 1 (G1-control group) received intradermal injection (ID) of 60 µg of secretome in 0.15 M PBS; Group 2 (G2) received 0.9% NaCl via ID; Group 3 (G3) received 60 µg of secretome, via ID and Group 4 (G4), received 60 µg of secretome by intravenous route. Rabbits were evaluated daily and after 15 days were euthanized, necropsied and skin samples around the necrotic lesions were collected for histological analysis. Results: Rabbits of G1 did not present edema, erythema, hemorrhagic halo, or necrosis. In animals from G2, G3, and G4, edema appeared after 6h. However, minor edema was observed in the animals of G2 and G3. Hemorrhagic halo was observed in animals, six hours and three days after, on G2, G3, and G4. Macroscopically, in G4, only one animal out of four had a lesion that evolved into a dermonecrotic wound. No changes were observed in the skin of the animals of G1, by microscopic evaluation. All animals challenged with L. intermedia venom showed similar alterations, such as necrosis and heterophilic infiltration. However, animals from G4 showed fibroblast activation, early development of connective tissue, neovascularization, and tissue re-epithelialization, indicating a more prominent healing process. Conclusion: These results suggest that secretome from mesenchymal stromal cells cultured in a xeno-free and human component-free culture media can be promising to treat dermonecrosis caused after Loxosceles spiders bite envenoming.

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Lippia alba (Mill.) N.E. Brown (Verbenaceae), popularly known as "erva cidreira", is one of the most used plants in Brazilian folk medicine. The species has several chemotypes and its volatile constituents have already been characterized, and present different chemical markers with known pharmacological properties, such as analgesic, sedative and antifungal properties. The objective of this study was to evaluate the anticholinesterase activity (AChE) of the essential oil of three chemotypes of Lippia alba and, by using molecular anchoring, determine the best receptor-ligand interaction energies of the main constituents present in the samples of oil. The essential oils were obtained via hydrodistillation (LA1 and LA2) and steam drag (LA3), and their volatile constituents determined using GC-MS. For the determination of anticholinesterase activity, direct bioautography and colorimetry assays based on Ellman's method were used. Molecular docking was performed using a multiple solution genetic algorithm and Merck molecular force field 94 (MMFF94) as the scoring function. In the main constituents of the oil samples, three chemotypes were identified for L. alba: LA1 is rich in citral, LA2 is rich in carvone and LA3 is rich in linalool. All L. alba chemotypes showed AChE enzyme inhibition with an IC50 of 3.57 µg/mL (LA1), 0.1 µg/mL (LA2) and 4.34 µg/mL (LA3). The molecular docking study complemented the results of the experiment and demonstrated significant interactions between the main constituents of the oils and the amino acid residues of the AChE enzyme. Irrespective of the chemotype, Lippia alba presents biotechnological potential for the discovery of anticholinesterase substances, with the chemotype LA2 (rich in carvone) being the most active.

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Abstract Objective The effects of the COVID-19 pandemic on suicidal behavior are still the subject of studies. It is hypothesized that the pandemic may have contributed to the development of suicidal ideation by intensifying psychosocial risk factors. Our objective was to investigate such correlated factors in Brazil. Method The study used an online and cross-sectional survey encompassing 448 adult participants. Sociodemographic questionnaires and the Self-Reporting Questionnaire were used, and binary logistic regression was employed to identify predictors. Results The prevalence of suicidal ideation was 22.3%. The results indicate that people who self-identified as black and brown (OR = 2.42), who were part of the risk group for COVID-19 (OR = 2.41), and who reported more psychological symptoms (OR = 1.50) were more likely to have suicidal ideation. Conclusion Public policies to prevent suicidal behavior and promote mental health in the most vulnerable groups might be needed beyond the pandemic context, especially among the black population.

Resumo Objetivos Os efeitos da pandemia de COVID-19 no comportamento suicida continuam sendo tema de estudos. Hipotetiza-se que a pandemia pode ter contribuído para a ideação suicida ao intensificar fatores de risco psicossociais. Nosso objetivo foi investigar tais fatores correlatos no Brasil. Método Este estudo realizou uma coleta de dados online e transversal, englobando 448 participantes adultos. Utilizaram-se questionários sociodemográficos e o Self-Reporting Questionnaire, empregando-se regressão logística binária para identificação de preditores. Resultados A prevalência de ideação suicida foi de 22,3%. Os resultados apontam que pessoas autoidentificadas como negros e pardos (OR = 2,42), que faziam parte do grupo de risco para COVID-19 (OR = 2,41), e que reportaram mais sintomas psicológicos (OR = 1,50) tiveram maior chance de apresentar ideação suicida. Conclusão Políticas públicas de prevenção do comportamento suicida e promoção de saúde mental nos grupos mais vulneráveis podem ser necessárias para além do contexto pandêmico, sobretudo entre a população negra.

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BACKGROUND: Coal and coal ash present inorganic elements associated with negative impacts on environment and human health. The objective of this study was to compare the toxicity of coal and coal ash from a power plant, assess their inorganic components, and investigate the biological impacts and potential mechanisms through in vitro and in vivo testing. METHODS: Particle-Induced X-ray Emission method was used to quantify inorganic elements and the toxicity was evaluated in Caenorhabditis elegans and Daphnia magna in acute and chronic procedures. The genotoxic potential was assessed using alkaline and FPG-modified Comet assay in HepG2 cells and mutagenicity was evaluated using Salmonella/microsome assay in TA97a, TA100, and TA102 strains. RESULTS: Inorganic elements such as aluminum (Al) and chromium (Cr) were detected at higher concentrations in coal ash compared to coal. These elements were found to be associated with increased toxicity of coal ash in both Caenorhabditis elegans and Daphnia magna. Coal and coal ash did not induce gene mutations, but showed genotoxic effects in HepG2 cells, which were increased using the FPG enzyme, indicating DNA oxidative damage. CONCLUSIONS: The combined findings from bioassays using C. elegans and D. magna support the higher toxicity of coal ash, which can be attributed to its elevated levels of inorganic elements. The genotoxicity observed in HepG2 cells confirms these results. This study highlights the need for continuous monitoring in areas affected by environmental degradation caused by coal power plants. Additionally, the analysis reveals significantly higher concentrations of various inorganic elements in coal ash compared to coal, providing insight into the specific elemental composition contributing to its increased toxicity.

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A acessibilidade das pessoas surdasno Sistema Único de Saúde ainda é precária devido às barreiras de comunicação. O objetivo do estudo foi analisar o acesso e o atendimento ofertado à comunidade surda nos serviços de saúde públicos, no município de Vitória da Conquista, Bahia, por meio de uma pesquisa qualitativa. Participaram oito profissionais de saúde e treze usuários surdos, cujos dados foram coletados com aplicação de um questionário e um roteiro de entrevista semiestruturada. Os resultados, com base na análise do conteúdo, apontaram que não há capacitação, as Unidades Básicas de Saúde não apresentam estratégias de acessibilidade nos atendimentos, têm rara comunicação em Libras e um número reduzido de intérpretes ­ o que dificulta a comunicação entre o profissional de saúde e o usuário surdo. A formação em Libras e a presença de um intérprete são apontadas como estratégias para um atendimento de qualidade às pessoas surdas

The accessibility of deaf people in the Unified Health System is still precarious due to communication barriers. The objective of the study was to analyze the access and care offered to the deaf community in public health services, in the city of Vitória da Conquista, Bahia, through qualitative research. Eight health professionals and thirteen deaf users took part in the research, whose data were collected using a questionnaire and a semi-structured interview script. Based on the content analysis, the results showed that there is no training, the Basic Health Units do not have accessibility strategies in care, rarely communicate in Libras and a have a small number of interpreters in their ranks ­ hindering the communication between health professional and deaf user. Training in Libras and the presence of an interpreter are identified as strategies for quality care for deaf people

La accesibilidad para los sordos en el Sistema Único de Salud todavía es precaria debido a las barreras de comunicación. El objetivo del estudio fue analizar el acceso y la atención ofrecida a este público en los servicios de salud públicos, en el municipio de Vitória da Conquista, Bahia, con una investigación cualitativa. Participaron ocho profesionales de la salud y trece usuarios sordos, cuyos datos fueron recolectados a través de cuestionario y guión de entrevista semiestructurada. Los resultados, basados en el análisis de contenido, mostraron que no hay capacitación, las Unidades Básicas de Salud no tienen estrategias de accesibilidad, y tienen poca comunicación en Libras y reducido número de intérpretes ­ lo que dificulta la comunicación entre el profesional de la salud y el usuario sordo. La formación en Libras y la presencia de un intérprete se identifican como estrategias para la atención de calidad a los sordos

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The aim of this study was to evaluate the effect of possible endocrine disruptors in surface and wastewater using a cell proliferation assay in an estrogen-responsive cell line (MCF-7). This study was conducted in the Sinos River (Brazil). The residual water was collected from a Pilot Treatment Plant (using Typha domingensis) and surface waters of the Luis Rau stream, the Sinos River, and the Water Treatment Station (WTS). After exposures (24-120 h), a Sulforhodamine B assay was performed to determine the proliferation rate. The higher increase in proliferation rate was observed with the Luiz Rau stream and the sewage treated by macrophytes in a flotation filter. The results from WTS water remained with a proliferation rate similar to the negative control at all times, suggesting that the conventional treatment is partially effective for the withdrawal of endocrine-disrupting agents. The study demonstrated the efficiency of the MCF-7 line in assessing endocrine disruption caused by wastewater and surface water samples. Our results indicate that conventional water treatment can partially remove the polluting load of endocrine disruptors, minimizing their environmental and public health impacts. Besides, it demonstrates the need to expand sanitary services to improve the population's quality of life.

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Staphylococcus aureus is a microorganism with high morbidity and mortality due to antibiotic-resistant strains, making the search for new therapeutic options urgent. In this context, computational drug design can facilitate the drug discovery process, optimizing time and resources. In this work, computational methods involving ligand- and structure-based virtual screening were employed to identify potential antibacterial agents against the S. aureus MRSA and VRSA strains. To achieve this goal, tetrahydroxybenzofuran, a promising antibacterial agent according to in vitro tests described in the literature, was adopted as the pivotal molecule and derivative molecules were considered to generate a pharmacophore model, which was used to perform virtual screening on the Pharmit platform. Through this result, twenty-four molecules were selected from the MolPort® database. Using the Tanimoto Index on the BindingDB web server, it was possible to select eighteen molecules with greater structural similarity in relation to commercial antibiotics (methicillin and oxacillin). Predictions of toxicological and pharmacokinetic properties (ADME/Tox) using the eighteen most similar molecules, showed that only three exhibited desired properties (LB255, LB320 and LB415). In the molecular docking study, the promising molecules LB255, LB320 and LB415 showed significant values in both molecular targets. LB320 presented better binding affinity to MRSA (-8.18 kcal/mol) and VRSA (-8.01 kcal/mol) targets. Through PASS web server, the three molecules, specially LB320, showed potential for antibacterial activity. Synthetic accessibility (SA) analysis performed on AMBIT and SwissADME web servers showed that LB255 and LB415 can be considered difficult to synthesize and LB320 is considered easy. In conclusion, the results suggest that these ligands, particularly LB320, may bind strongly to the studied targets and may have appropriate ADME/Tox properties in experimental studies.

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Vaginoscopy allows an intravaginal endoscopic evaluation and can help in the diagnosis of female bovine genital tract disorders. The aim of this study is to validate a new method of gynaecological examination using a Scope VOR&GDI videovaginoscope. Twenty-six heifers were used, divided into 2 groups with 13 animals, control group (GC) and videovaginoscopic group (GV). In the CG, vaginoscopy was performed with a vaginal speculum and in the GV with a Scope VOR&GDI videovaginoscope. All heifers underwent vaginoscopy on day 0 (D0), and 9 days later, on day 9 (D9). Vaginoscopy provided adequate intravaginal inspection. In the CG, 23% (3/13) of the heifers showed discomfort during the test. In GV, vaginal inspection was better due to better image quality. The videovaginoscope is the most effective equipment for carrying out the vaginoscopy procedure in Nellore heifers, as it produces sharper and clearer images and can help in the diagnostic and therapeutic routine of veterinarians.

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Cancer is a multifactorial disease that continues to increase. Lignans are known to be important anticancer agents. However, due to the structural diversity of lignans, it is difficult to associate anticancer activity with a particular subclass. Therefore, the present study sought to evaluate the association of lignan subclasses with antitumor activity, considering the genetic profile of the variants of the selected targets. To do so, predictive models were built against the targets tyrosine-protein kinase ABL (ABL), epidermal growth factor receptor erbB1 (EGFR), histone deacetylase (HDAC), serine/threonine-protein kinase mTOR (mTOR) and poly [ADP-ribose] polymerase-1 (PARP1). Then, single nucleotide polymorphisms were mapped, target mutations were designed, and molecular docking was performed with the lignans with the best predicted biological activity. The results showed more anticancer activity in the dibenzocyclooctadiene, furofuran and aryltetralin subclasses. The lignans with the best predictive values of biological activity showed varying binding energy results in the presence of certain genetic variants.

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Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) and of the unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 and CNGB3 alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the CNGA3 and CNGB3 genes. Patients' genotype and phenotype were retrospectively evaluated. The majority of CNGA3 variants were missense, and the most prevalent CNGB3 variant was c.1148delC (p.Thr383Ilefs*13), resulting in a frameshift and premature stop codon, which is compatible with previous publications in the literature. A novel variant c.1893T>A (p.Tyr631*) in the CNGB3 gene is reported for the first time in this study. A great variability in morphologic findings was observed in our patients, although no consistent correlation with age and disease stage in OCT foveal morphology was found. The better understanding of the genetic variants landscape in the Brazilian population will help in the diagnosis of this disease.

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The use of agrochemicals has become a standard practice worldwide to ensure the productivity and quality of sugarcane crops. This study aimed to analyze the metabolic changes in sugarcane culms treated with five different nematicides. The experimental design was randomized in blocks, and agro-industrial and biometric variables were evaluated. The samples were extracted and then analyzed using LC-MS, LC-MS/MS, and LC-HRMS. The data obtained were submitted to statistical methods (PCA and PLS). Fragmentation patterns, retention time, and UV absorptions of the main features were analyzed. The plantations treated with carbosulfan (T4) obtained higher agricultural productivity and total recoverable sugar (TRS), while the use of benfuracarb (T3) was associated with lower growth and lower TRS. Statistical analysis revealed the contribution of the features at m/z 353 and m/z 515, assigned as chlorogenic acids, which discriminated the groups. The MS profile also supported the occurrence of flavonoids (C-glycosides and O-glycosides) in the samples.

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Natural products have important pharmacological activities. This study sought to investigate the activity of the compound betulinic acid (BA) against different strains of bacteria and fungi. The minimum inhibitory concentration (MIC) was determined and then the minimum bactericidal concentration (MBC) and minimum fungicidal concentration (MFC). After performing the in vitro tests, molecular modeling studies were carried out to investigate the mechanism of action of BA against the selected microorganisms. The results showed that BA inhibited the growth of microbial species. Among the 12 species (Staphylococcus aureus, S. epidermidis, Pseudomonas aeruginosa, Escherichia coli, Mycobacterium tuberculosis, Candida albicans, C. tropicalis, C. glabrata, Aspergillus flavus, Penicillium citrinum, Trichophyton rubrum, and Microsporum canis) investigated, 9 (75%) inhibited growth at a concentration of 561 µM and 1 at a concentration of 100 µM. In general, the MBC and MFC of the products were between 561 and 1122 µM. In silico studies showed that BA presented a mechanism of action against DNA gyrase and beta-lactamase targets for most of the bacteria investigated, while for fungi the mechanism of action was against sterol 14α-demethylase (CYP51) targets and dihydrofolate reductase (DHFR). We suggest that BA has antimicrobial activity against several species.

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BACKGROUND AND OBJECTIVES: KRAS, NRAS, BRAF mutations and microsatellite instability (MSI) can be associated with Colorectal Cancer (CRC) development. MATERIAL AND METHODS: We evaluated 828 medical records of CRC patients from a school hospital from January/2016 to December/2020. Variables such as age, gender, ethnicity, literacy level, smoking, alcoholism, primary anatomical site, tumor staging, presence of BRAFV600E, KRAS, NRAS mutations and MSI , survival and metastasis were identified. The statistical analyses were performed (p < 0.05 was considered significant). RESULTS: There was a predominance of males (51.93%), whites (90.70%), low education (72.34%), smokers (73.79%), and non-alcoholics (79.10%). Rectum was the most affected site (42.14%), advanced tumor stage was most prevalent (62.07%), and metastasis occurred in (64.61%). Of the enrolled patients; 204 were investigated for BRAF mutation and detected in (2.94%); 216 for KRAS gene and detected in (26.08%); 210 for NRAS gene, and detected in (25.36%); 370 for MSI and detected in (44.68%). A significant association of CRC with NRAS mutation and alcohol habit (p = 0.043) was observed. The presence of MSI was associated with primary site proximal colon (p < 0.000), distal colon (p = 0.001) and rectum (p = 0.010). CONCLUSION: Patients with CRC are male, over 64 years old, white, with low education, smokers and non-alcoholics. The most affected primary site is rectum in advanced stage with metastasis. CRC is associated with NRAS mutation and alcohol habit, there is increased risk for primary site of proximal colon and MSI; decreased risk for distal colon and rectum in the presence of MSI.

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OBJECTIVE: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. CASE DESCRIPTION: A male baby was born at 37 weeks' gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. COMMENTS: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.

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Plants of Hyptidinae subtribe (Lamiaceae - family), as Mesosphaerum sidifolium, are a source of bioactive molecules. In the search for new drug candidates, we perform chemical characterization of diterpenes isolated from the aerial parts of M. sidifolium was carried out with uni- and bidimensional NMR spectral data, and evaluate in silico through the construction of a predictive model followed by in vitro testing Mycobacterium tuberculosis and Mycobacterium smegmatis. Resulted in the isolation of four components: Pomiferin D (1), Salviol (2), Pomiferin E (3) and 2α-hydroxysugiol (4), as well as two phenolic compounds, rosmarinic and caffeic acids. In silico model identified 48 diterpenes likely to have biological activity against M. tuberculosis. The diterpenes isolated were tested in vitro against M. tuberculosis demonstrating MIC = 125 µM for 4 and 1, while 2 and 3 -MIC = 250 µM. These compounds did not show biological activity at these concentrations for M. smegmatis.

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Abstract Resolution 658/2022 of the Brazilian Regulatory Agency requires the determination of the permitted daily exposure (PDE) of pharmaceutical agents. Ginkgo biloba L. is used therapeutically to treat memory deficits and other brain diseases. However, published results indicate that more studies are needed to confirm the safety of Ginkgo biloba. This study aimed to evaluate the dry extract of Ginkgo biloba L. leaves PDE as an ingredient in an oral pharmaceutical product in preclinical studies using mice. Acute oral toxicity and repeated dose experiments were performed based on OECD guidelines, as well as genotoxicity tests. The results indicate that Ginkgo biloba L. has low acute toxicity, no liver toxicity, and does not alter blood glucose levels. No changes in weight gain were observed, but food intake decreased in males during the first week of treatment at the highest dose. Hematological parameters were not altered in males, whereas females presented lower leukocyte and lymphocyte counts and higher neutrophil counts at the highest dose. The lipid profile was not altered in males, whereas total cholesterol was increased in females. The estimated PDE was 0.1 mg/day and, when related to the maximum residual concentration, indicates that the cleaning process used is safe and does not require reassessment.

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The use of fish as bioindicators of the effect of contaminants in the aquatic environment is usual. However, detritivorous species are less used for environmental monitoring. Thus, the aim of this study was to evaluate the use of Ancistrus brevipinnis as a potential bioindicator of water quality of the Ilha River, RS (southern Brazil) and compared to the result obtained for a routine species (Bryconamericus iheringii). For this purpose, the condition factor (CF), the presence of morphological changes in the gills and the quantification of metals in different tissues of the specimens collected in three sites of the Ilha River were evaluated. A homogeneity in the distribution of data was observed in the CF for the species B. iheringii, whereas the specimens of A. brevipinnis showed an oscillation in the distribution of data of the CF. Histological analysis showed greater sensitivity of B. iheringii in reproducing characteristics of the environment in its gill lamellae, which was not observed in A. brevipinnis. Conversely, Cr quantification was higher in the intestine samples of A. brevipinnis at all sites and in all collections due to its feeding behavior. The data reinforce the use of water column species as Bryconamericus iheringii for environmental monitoring, even if they do not reflect the whole aquatic ecosystem. Further studies evaluating other tissues and biomarkers, such as the gastrointestinal tract, may assist in describing the use of species more related to sediment.(AU)

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Abstract Schizophrenia is an illness that affects 26 million people worldwide. However, conventional antipsychotics present side effects and toxicity, highlighting the need for new antipsychotics. We aimed to evaluate the cytotoxicity of haloperidol (HAL), clozapine (CLO), and a new molecule with antipsychotic potential, PT-31, in NIH-3T3 cells. The neutral red uptake assay and the MTT assay were performed to evaluate cell viability and mitochondrial activity, morphological changes were assessed, and intracellular reactive oxygen species (ROS) detection was performed. HAL and CLO (0.1 µM) showed a decrease in cell viability in the neutral red uptake assay and in the MTT assay. In addition, cell detachment, content decrease, rounding and cell death were also observed at 0.1 µM for both antipsychotics. An increase in ROS was observed for HAL (0.001, 0.01 and 1 µM) and CLO (0.01 and 1 µM). PT-31 did not alter cell viability in any of the assays, although it increased ROS at 0.01 and 1 µM. HAL and CLO present cytotoxicity at 0.1 µM, possibly through apoptosis and necrosis. In contrast, PT-31 does not present cytotoxicity to NIH-3T3 cells. Further studies must be performed for a better understanding of these mechanisms and the potential risk of conventional antipsychotics

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ABSTRACT Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. Case description: A male baby was born at 37 weeks' gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. Comments: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.

RESUMO Objetivo: O transtorno do espectro autista (TEA) afeta o desenvolvimento cognitivo e a interação social em diferentes níveis. Fatores genéticos e ambientais estão associados a TEA secundário. A herança genética é principalmente poligênica e, em 10%, são variações do número de cópias (CNV). A hibridização genômica comparativa de array (array-CGH) é usada para identificar CNV. Este relato objetivou discutir o TEA e seu diagnóstico por array-CGH, destacando a associação com a duplicação patogênica do 17q12q21.2. Descrição do caso: Um bebê do sexo masculino nasceu com 37 semanas de gestação por cesariana. A criança apresentou atraso no desenvolvimento, andando aos dois anos e um mês e falando aos quatro, exibindo estrabismo, criptorquidia, hipertelorismo e saliência frontal. Aos dois anos, o array-CGH de sangue periférico revelou duplicação de 5,6 Mb 17q12q21.2 ou arr 17q12q21.2 (34.815.527-40.213.109) x3 abrangendo 190 genes, incluindo HNF1B e LHX1. A criança foi clinicamente diagnosticada com TEA. Comentários: Alterações no segmento 17q12, como a duplicação encontrada, têm sido associadas ao desenvolvimento de patologias renais e distúrbios comportamentais. Localizado nessa região cromossômica, o HNF1B codifica um membro da superfamília que contém o domínio dos fatores de transcrição. Outro gene foi associado a anormalidades neurológicas, em relação às deleções 17q12, o LHX1, como mostrado neste caso. O LHX1 desempenha um papel na migração e diferenciação dos neurônios GABA, modulando a sobrevivência dos interneurônios pré-ópticos e afetando, assim, a migração e distribuição celular no córtex. Mudanças nesse controle resultam em falhas no desenvolvimento dos interneurônios, contribuindo para a fisiopatologia das doenças psiquiátricas.