Genome-wide association study considering genotype-by-environment interaction for productive and reproductive traits using whole-genome sequencing in Nellore cattle.

BACKGROUND: The genotype-by-environment interaction (GxE) in beef cattle can be investigated using reaction norm models to assess environmental sensitivity and, combined with genome-wide association studies (GWAS), to map genomic regions related to animal adaptation. Including genetic markers from whole-genome sequencing in reaction norm (RN) models allows us to identify high-resolution candidate genes across environmental gradients through GWAS. Hence, we performed a GWAS via the RN approach using whole-genome sequencing data, focusing on mapping candidate genes associated with the expression of reproductive and growth traits in Nellore cattle. For this purpose, we used phenotypic data for age at first calving (AFC), scrotal circumference (SC), post-weaning weight gain (PWG), and yearling weight (YW). A total of 20,000 males and 7,159 females genotyped with 770k were imputed to the whole sequence (29 M). After quality control and linkage disequilibrium (LD) pruning, there remained ∼ 2.41 M SNPs for SC, PWG, and YW and ∼ 5.06 M SNPs for AFC. RESULTS: Significant SNPs were identified on Bos taurus autosomes (BTA) 10, 11, 14, 18, 19, 20, 21, 24, 25 and 27 for AFC and on BTA 4, 5 and 8 for SC. For growth traits, significant SNP markers were identified on BTA 3, 5 and 20 for YW and PWG. A total of 56 positional candidate genes were identified for AFC, 9 for SC, 3 for PWG, and 24 for YW. The significant SNPs detected for the reaction norm coefficients in Nellore cattle were found to be associated with growth, adaptative, and reproductive traits. These candidate genes are involved in biological mechanisms related to lipid metabolism, immune response, mitogen-activated protein kinase (MAPK) signaling pathway, and energy and phosphate metabolism. CONCLUSIONS: GWAS results highlighted differences in the physiological processes linked to lipid metabolism, immune response, MAPK signaling pathway, and energy and phosphate metabolism, providing insights into how different environmental conditions interact with specific genes affecting animal adaptation, productivity, and reproductive performance. The shared genomic regions between the intercept and slope are directly implicated in the regulation of growth and reproductive traits in Nellore cattle raised under different environmental conditions.

Genetic parameters for fertility traits in Nellore bulls.

Nellore is the main cattle breed used in Brazil, being the largest commercial herd in the world. Beyond the importance of male reproductive efficiency for farm profit, the use of reproductive techniques, mainly artificial insemination, turns the evaluation of male reproductive traits even more important. Estimation of genetic parameters increases the knowledge on traits variances and allows envisaging the possibility of the inclusion of new traits as selection criterion. Genetic parameters for fifteen traits that can be classified as testicular biometry or physical and morphological semen traits were estimated for a Nellore bull population ranging from 18 to 36 months. Single-trait and bi-trait animal models were used for (co)variance components estimation. The contemporary group was considered as fixed effect and age at measurement as covariable. Scrotal circumference presented heritability of 0.47 ± 0.12. This value is similar to the heritabilities found for all testicular biometry traits (0.34-0.48). Sperm progressive motility, which has a direct effect on bull fertility, presented low heritability (0.07 ± 0.08). Major and total sperm defects presented moderate to high heritabilities (0.49 ± 0.18 and 0.39 ± 0.15, respectively), indicating that great genetic gain can be obtained through selection against sperm defects. High and positive genetic correlations were observed among testicular biometry traits, which also presented favourable genetic correlations with physical and morphological traits of the semen with magnitude ranging from high to low. Scrotal circumference presented moderate to high and favourable genetic correlations with sperm progressive motility, sperm turbulence, major sperm defects and total sperm defects. Thus, the selection for scrotal circumference results in favourable correlated genetic response for semen quality. The results show that the use of scrotal circumference as reference trait for bull fertility is appropriate, since it presents high heritability and favourable genetic correlation with semen quality.

Feet and legs malformation in Nellore cattle: genetic analysis and prioritization of GWAS results.

Beef cattle affected by feet and legs malformations (FLM) cannot perform their productive and reproductive functions satisfactorily, resulting in significant economic losses. Accelerated weight gain in young animals due to increased fat deposition can lead to ligaments, tendon and joint strain and promote gene expression patterns that lead to changes in the normal architecture of the feet and legs. The possible correlated response in the FLM due to yearling weight (YW) selection suggest that this second trait could be used as an indirect selection criterion. Therefore, FLM breeding values and the genetic correlation between FLM and yearling weight (YW) were estimated for 295,031 Nellore animals by fitting a linear-threshold model in a Bayesian approach. A genome-wide association study was performed to identify genomic windows and positional candidate genes associated with FLM. The effects of single nucleotide polymorphisms (SNPs) on FLM phenotypes (affected or unaffected) were estimated using the weighted single-step genomic BLUP method, based on genotypes of 12,537 animals for 461,057 SNPs. Twelve non-overlapping windows of 20 adjacent SNPs explaining more than 1% of the additive genetic variance were selected for candidate gene annotation. Functional and gene prioritization analysis of candidate genes identified six genes (ATG7, EXT1, ITGA1, PPARD, SCUBE3, and SHOX) that may play a role in FLM expression due to their known role in skeletal muscle development, aberrant bone growth, lipid metabolism, intramuscular fat deposition and skeletogenesis. Identifying genes linked to foot and leg malformations enables selective breeding for healthier herds by reducing the occurrence of these conditions. Genetic markers can be used to develop tests that identify carriers of these mutations, assisting breeders in making informed breeding decisions to minimize the incidence of malformations in future generations, resulting in greater productivity and animal welfare.

Heteroscedastic Reaction Norm Models Improve the Assessment of Genotype by Environment Interaction for Growth, Reproductive, and Visual Score Traits in Nellore Cattle.

The assessment of the presence of genotype by environment interaction (GxE) in beef cattle is very important in tropical countries with diverse climatic conditions and production systems. The present study aimed to assess the presence of GxE by using different reaction norm models for eleven traits related to growth, reproduction, and visual score in Nellore cattle. We studied five reaction norm models (RNM), fitting a linear model considering homoscedastic residual variance (RNM_homo), and four models considering heteroskedasticity, being linear (RNM_hete), quadratic (RNM_quad), linear spline (RNM_l-l), and quadratic spline (RNM_q-q). There was the presence of GxE for age at first calving (AFC), scrotal circumference (SC), weaning to yearling weight gain (WYG), and yearling weight (YW). The best models were RNM_l-l for YW and RNM_q-q for AFC, SC, and WYG. The heritability estimates for RNM_l-l ranged from 0.07 to 0.20, 0.42 to 0.61, 0.24 to 0.42, and 0.47 to 0.63 for AFC, SC, WYG, and YW, respectively. The heteroskedasticity in reaction norm models improves the assessment of the presence of GxE for YW, WYG, AFC, and SC. Additionally, the trajectories of reaction norms for these traits seem to be affected by a non-linear component, and selecting robust animals for these traits is an alternative to increase production and reduce environmental sensitivity.

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.

OBJECTIVE: Perform genotyping of SNPs in the promoter region of the SMO gene in BCC samples from patients from northeastern Brazil, and to determine if there is an association of these SNPs of the gene in question with the susceptibility to the development of the BCC. METHODS: 100 samples of paraffined tissue from patients with histopathological diagnosis of BCC and 100 control samples were analyzed for each polymorphism by a newly developed genotyping method, the Dideoxy Single Allele Specific - PCR. The software Bioestat - version 5.3 and Haploview 4.2 were used for the statistical analysis. For all tests a P-value.

Effects of grain processing methods on the expression of genes involved in volatile fatty acid transport and pH regulation, and keratinization in rumen epithelium of beef cattle.

Two experiments were carried out to evaluate the effects of corn and sorghum with different processing methods on the expression of genes involved in volatile fatty acids transport and pH regulation, and ruminal keratinization in rumen epithelium of finishing bulls. For Exp. 1, five rumen cannulated Nellore bulls were used in a 5x5 Latin square arrangement, with 14 d for adaptation and 9 d for sample collection. Treatments were: dry ground corn, dry ground sorghum, reconstituted corn, reconstituted sorghum, and control (forage-based diet). Samples of rumen epithelium from ventral sac were excised, rinsed, snap-frozen and stored at -80°C until total RNA isolation and quantitative real-time PCR analysis. In the Exp. 2, 24 Nellore bulls were assigned to a completely randomized design lasting 168 d. Experimental treatments were similar to those at Exp. 1, but without the control treatment. After the experimental period, bulls were slaughtered and rumen epithelium samples were rapidly excised for further histological analysis. Rumen epithelial tissue from animals fed reconstituted corn had lower expression of downregulated-in-adenoma (P = 0.03) and Na+/H+ exchanger 2 (trend; P = 0.09). The expression of Na+/ H+ exchanger 1 (P = 0.10) and putative anion transporter (P = 0.06) tended to be lower in rumen epithelium of bulls fed reconstituted grains. Ruminal concentration of valerate was greater for animals fed reconstituted grain (P = 0.01). Likewise, animals fed reconstituted corn tended to have greater butyrate ruminal concentration (P = 0.08). Keratinized layer thickness did not differ among treatments (P > 0.10). Therefore, reconstituted grains (especially corn) decrease the mRNA expression of genes involved in volatile fatty acids transport and pH control in the rumen epithelium.

Single-Nucleotide Polymorphisms of the MSH2 and MLH1 Genes, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.

Basal cell carcinoma - BCC is considered a multifactorial neoplasm involving genetic, epigenetic and environmental factors. Where UVB radiation is considered the main physical agent involved in BCC carcinogenesis. The Brazil and state of Paraíba are exposed to high levels of UVB rays. The mismatch repair - MMR is important DNA repair mechanisms to maintain replication fidelity. Therefore, single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in MMR may be potential molecular markers of susceptibility to BCC. The objective of this study was to evaluate and describe for the first time the SNPs rs560246973, rs2303425 and rs565410865 and risk of developing BCC. The present study analyzed 100 samples of paraffin-embedded tissue from patients with histopathological diagnosis of BCC and 100 control samples. The results were obtained by genotyping method, Dideoxy Unique Allele Specific - PCR (DSASP). The SNPs rs2303425 were not associated with Basal Cell Carcinoma. However, the SNPs rs560246973 and rs565410865 was shown to be associated with the development of BCC when compared to control samples (P < 0.0001). The SNPs rs565410865 was also statistical significance between the genotypes of and the age group (p = 0.0027) and tumor location (p = 0,0191). The result suggests that SNPs rs2303425 and rs565410865 are associated with susceptibility to the development of BCC in the Brazilian population and may be considered as potential molecular markers for BCC.

A radiopacidade de cimentos endodônticos variando-se tempo de exposição e filmes / Endodontics sealers radiopacity with different exposure times and films

Objetivo: Avaliar a radiopacidade dos cimentos endônticos Fillcanal, Apexit, Vidrion Endo e Endométhasone, variandose filmes radiográficos periapicais D-Speed, E-Speed e Agfa Dentus M2 Comfort e dois tempos de exposição. Material e Métodos: Foram confeccionados 5 corpos de prova para cada material estudado, os quais foram radiografados, juntamente com um dente, nos tempos de exposição e filmes estudados. Em cada imagem do corpo de prova e do dente, foram obtidas medidas da densidade óptica. Foram utilizados os testes de Kruskal-Wallis e de Mann-Whitney, com o nível de significância de 0,05. Resultados: Os valores da densidade óptica do dente e dos cimentos mostraram-se diferentes quando se variou filme e/ou tempo de exposição. Em todas as condições estudadas, o dente apresentou valores da densidade óptica maiores que os dos cimentos. O cimento Vidrion Endo mostrou-se mais radiopaco seguido, em ordem decrescente, pelo Fillcanal, Endométhasone e Apexit na maioria das condições estudadas. Com exceção do cimento Vidrion Endo, por não ter demonstrado alteração da radiopacidade variando-se o tipo de filme utilizando-se menor tempo de exposição, houve diferenças nos resultados quanto ao tipo de filme e tempo de exposição em todos os casos. Conclusão: Os fatores tempo de exposição e filme influenciam na radiopacidade dos materiais.

Objective: The radiopacity of the endodontic sealers Fillcanal, Apexit, Vidrion Endo and Endométhasone, was assessed, with three periapical radiographic films: D-Speed, E-Speed and Agfa Dentus M2 Comfort and two exposure times. Material and Methods: Five test specimens were made for each material studied, which were radiographed together with a teeth, at the exposure times and with the films studied. In each test specimen and tooth image, optic density measurements were obtained. The Kruskal-Wallis test and the Mann-Whitney test was used, with level of significance of 0.05. Results: The optic density values of the tooth and the cements were shown to differ with the film and/or exposure time that was varied. Under all the studied conditions, the tooth presented higher optical density values than those of the sealers. The Vidrion Endo sealer was shown to be the most radiopaque, followed by Fillcanal, Endométhasone and Apexit in decreasing order, under the majority of the studied conditions. With exception of the Vidrion Endo cement, since it showed no alteration in radiopacity when varying the type of radiographic film and using a shorter exposure time, there were differences in the results regardings the type of film and exposure time in all cases. Conclusion: The factors exposure time and film influence the radiopacity of the materials.

Influência do tempo de exposiçãoe da kVp na radiopacidade de cimentos endodônticos / Influence of time exposure and kVp on endodontics sealers radiopacity

Este estudo avaliou a radiopacidade dos cimentos endodônticos FillCanal®, Apexit®, Vidrion Endo® e Endométhasone®, variando o tempo de exposição (0,3 e 0,4s) e quilovoltagem (50 e 70 kVp). Para cada material estudado foram confeccionados cinco corpos-de-prova, os quais foram radiografados, juntamente com um dente, nos tempos de exposição e quilovoltagens determinados. Em cada imagem do corpo-de-prova e do dente foram realizadas cinco medidas da densidade óptica. Foram utilizados os testes de Kruskal-Wallis, para avaliar a influência dos fatores quilovoltagem, tempo de exposição e cimento, e de Mann-Whitney, para comparações múltiplas (p,0,05). Nas condições avaliadas, todos os materiais foram mais radiopacos que o dente. Com exceção do Endométhasone®®, que apresentou radiopacidade inferior em relação aos demais materiais nos dois tempos de exposição estudados, não houve diferença significativa entre os outros cimentos endodônticos avaliados quando a quilovoltagem empregada foi de 50 kVp. Quando os materiais foram expostos utilizando-se a quilovoltagem de 70 kVp, houve maior densidade óptica para o tempo 0,4 s e, nos dois tempos de exposição empregados, os valores de densidade apresentados pelos cimentos Vidrion Endo® e FillCanal® e Endométhasone® e Apexit® foram semelhantes. Concluiu-se que o fator quilovoltagem apresentou maior influência na radiopacidade dos materiais do que o tempo de exposição. Da mesma forma, pode-se dizer que a quilovoltagem de 70 kVp permite que a radiopacidade do material se diferencie pela densidade e composição deste.

Meningoencefalite tuberculosa: conceito, terminologia, classificação, prioridades para os meios diagnósticos / Meningoencephalitis tuberculosis: concept, terminology, classification, priorytis for diagnosis media

A meningoencefalite tuberculosa (MET) é a forma mais grave das tuberculoses extrapulmonares, sendo o diagnóstico precoce a questão crucial para o bom êxito terapêutico. Com base em um estudo retrospectivo de 48 casos de MET, no HULW/UFPB, os autores observaram que a demora do paciente em procurar o atendimento médico, assim como a falta de padronização na abordagem do paciente com MET, contribuíram para o retardo do diagnóstico e do início da terapêutica tuberculostática específica e que a ocorrência de óbitos de seqüelas esteve relacionada ao estágio evolutivo da doença, independente do esquema terapêutico utilizado

AIDS na Paraíba / AIDS in Paraíba

A amostra do presente estudo foi constituido de 203 casos de AIDS no estado da Paraíba segundo dados, colhidos na Secretaria de Saúde do Estado, referente ao período de junho de 1985 à abril de 1994. O objetivo deste estudo foi traçar o perfil epidemiológico da doença no estado. Destacamos entre os principais achados, um aumento substancial de mulheres contaminadas apesar do número de homens continuar superior. Entre as categorias de transmissäo, destaca-se a sexual com 90,8 por cento dos casos, portanto é de se esperar uma alta incidência na faixa etária de maior vigor sexual (20 à 29 anos). Obtivemos também dados referentes a profissäo, com destaque para as de menor nível sócio-econômico (empregada doméstica e pedreiro); e a infecçäo que propicionou o diagnóstico tais como: pneumonia, candidíases e tuberculose

Hiperplasia gengival anatômica: relato de caso clínico / Anatomic gingival hyperplasia: a case report

A hiperplasia gengival anatômica é uma condição oral benigna que envolve desde aumento gengival ao redor da coroa dentária até deformação do palato. O presente caso clínico refere-se ao paciente A.P.D., 39 anos de idade, gênero masculino. Durante a anamnese, foi relatado que a lesão estaria presente por aproximadamente um ano, de forma assintomática, com crescimento lento e gradual. Ao exame clínico foi detectada significativa massa nodular na região posterior do palato duro, bilateral, mais proemnente no lado esquerdo. Foi realizada biópsia incisional, seguida de exame histopatológico, confirmando-se o diagnóstico clínico de hiperplasia gengival anatômica