Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report

Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. It is characterized by dystonia and compulsive self-mutilation, in particular, biting behavior on the oral mucosa, tongue, lips, fingers, and shoulders, typically before one year of age. The majority of these patients require several procedures, including dental extractions, to prevent significant secondary lesions. This article aims to report a clinical case of a 12-year-old boy with an LNS diagnosis who was referred to the Paediatric Stomatology Department of Central Lisbon University Hospital. Since the age of eight, the patient had displayed self-harm behavior, with arm and oral injuries. On evaluation, he presented with deep ulcerated lesions on the lips and tongue, with substance loss associated with a significant decrease in food intake and consequent weight loss. The management included conservative therapy with gabapentin, lorazepam, and botulinum toxin injections. A successful reduction of self-mutilation with no signs of new lesions in the oral cavity and an improvement in nutritional status were reported. The therapeutic approach is essential to provide the best quality of life for patients and their caregivers. To delay radical treatments, multiple therapeutic options can be used. The oral pathology team considered that the most appropriate therapy was botulinum toxin A injections along with therapeutic adjustment, which was effective in wound healing and self-mutilation behavior ceasing at the two-month follow-up.info:eu-repo/semantics/publishedVersio

EMCAPA 8151 - robusta tropical: variedade melhorada de café conilon de propagação por sementes para o Estado do Espírito Santo.

No Espírito Santo, a espécie Coffea canephora, ?variedade? conilon, encontra-se amplamente distribuída, sendo cultivada, principalmente, por pequenos e médios produtores de base familiar. A espécie é alógama e possui ampla variabilidade genética. Devido essa variabilidade, a facilidade de clonagem e a grande produção de sementes, é possível e recomendável conduzir, de forma paralela, trabalhos de melhoramento genético visando tanto a obtenção de variedades clonais como de variedades sintéticas, estas últimas a serem multiplicadas via sexuada (sementes). Objetivando atender, prioritariamente, as regiões com deficiências de ofertas de mudas das variedades clonais recomendadas, comprovadamente superiores, e os pequenos e médios produtores que utilizam seus próprios materiais genéticos como matrizes, a Empresa Capixaba de Pesquisa, Assistência Técnica e Extensão Rural ? EMCAPER desenvolveu a primeira variedade melhorada de conilon a ser propagada por sementes, para o Estado do Espírito Santo: EMCAPER 8151 ? Robusta Tropical

Genomic selection for genotype performance and environmental stability in Coffea canephora.

Coffee is one of the most important beverages and trade products in the world. Among the multiple research initiatives focused on coffee sustainability, plant breeding provides the best means to increase phenotypic performance and release cultivars that could meet market demands. Since coffee is well adapted to a diversity of tropical environments, an important question for those confronting the problem of evaluating phenotypic performance is the relevance of genotype-by-environment interaction. As a perennial crop with a long juvenile phase, coffee is subjected to significant temporal and spatial variations. Such facts not only hinder the selection of promising materials but also cause a majority of complaints among growers. In this study, we hypothesized that trait stability in coffee is genetically controlled and therefore is predictable using molecular information. To test it, we used genome-based methods to predict stability metrics computed with the primary goal of selecting coffee genotypes that combine high phenotypic performance and stability for target environments. Using 2 populations of Coffea canephora, evaluated across multiple years and locations, our contribution is 3-fold: (1) first, we demonstrated that the number of harvest evaluations may be reduced leading to accelerated implementation of molecular breeding; (2) we showed that stability metrics are predictable; and finally, (3) both stable and high-performance genotypes can be simultaneously predicted and selected. While this research was carried out on representative environments for coffee production with substantial crossover in genotypic ranking, we anticipate that genomic prediction can be an efficient tool to select coffee genotypes that combine high performance and stability across years and the target locations here evaluated

A mixed model to multiple harvest-location trials applied to genomic prediction in Coffea canephora.

Genomic selection (GS) has been studied in several crops to increase the rates of genetic gain and reduce the length of breeding cycles. Despite its relevance, there are only a modest number of reports applied to the genus Coffea. Effective implementation depends on the ability to consider genomic models, which correctly represent breeding scenario in which the species are inserted. Coffee experimentation, in general, is represented by evaluations in multiple locations and harvests to understand the interaction and predict the performance of untested genotypes. Therefore, the main objective of this study was to investigate GS models suitable for use in Coffea canephora. An expansion of traditional GBLUP was considered and genomic analysis was performed using a genotyping-by-sequencing (GBS) approach, showed good potential to be used in coffee breeding programs. Interactions were modeled using the multiplicative mixed model theory, which is commonly used in multi-environment trials (MET) analysis in perennial crops. The effectiveness of the method used was compared with other genetic models in terms of goodness-of-fit statistics and prediction accuracy. Different scenarios that mimic coffee breeding were used in the cross-validation process. The method used had the lowest AIC and BIC values and, consequently, the best fit. In terms of predictive ability, the incorporation of the MET modeling showed higher accuracy (on average 10–17% higher) and lower prediction errors than traditional GBLUP. The results may be used as basis for additional studies into the genus Coffea and can be expanded for similar perennial crops

Mixed model to multiple havest-location trial applied to genomic prediction in Coffea canephora.

Genomic Selection (GS) has been studied in several crops with potential to increase the rates of genetic gain and reduce the length of breeding cycle. Despite the relevance, there is a modest number of reports applied to the genus Coffea. Nevertheless, the effective implementation depends on the ability to consider genomic models that represent with adequate reliability the breeding scenario in which the specie are inserted. Coffee experimentation, in general, is represented for evaluations in multiples sites and harvests (MET), in order to understand the interaction magnitude and predicting the performance of untested genotypes. Therefore, the main objective of this study was investigate GS models that accommodate MET modeling. A expansion of the traditional GBLUP was proposed in order to accommodate the interactions in the GS model. Different scenarios that mimic the coffee breeding and models commonly used in the analysis were compared. In terms of goodness of fit this approach showed the lowest AIC and BIC values and, consequently, the best goodness of fit. The predictive capacity was measured by cross-validation and, in contrast with the GBLUP, the incorporation of the MET modeling showed higher predictive accuracy (on average 10-17% higher) and lower prediction errors. All the genomic analysis were performed using the Genotyping-by-sequencing (GBS) approach, which showed a good potential to be used in coffee breeding programs. Thus, as conclusion, the results achieved may be used as basis for additional studies into the Genus Coffea and expanded for other perennial crops, that have a similar experimentation design

A Rare Case of Pleural Empyema Caused by Campylobacter Rectus

Campylobacter rectus is considered to be a primary periodontal pathogen that is rarely identified in extraoral specimens. We report a case of pleural empyema caused by Campylobacter rectus: the pathogen was isolated in the drained pleural fluid sample. Since the patient had previously undergone multiple antibiotic treatments, oral cultures were highly unlikely to be positive, although poor dental hygiene appears to be the leading risk factor for C. rectus systemic infections. The present case illustrates that C. rectus can be a cause of not only periodontal disease but also pulmonary infection.info:eu-repo/semantics/publishedVersio

Adaptabilidade e estabilidade via regressão não paramétrica em genótipos de café.

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Avaliação de clones de café conilon de maturação intermediária no sul do Estado do Espírito Santo.

A cafeicultura de conilon do Espírito Santo é uma das atividades mais importante na geração de renda e emprego no Estado. O objetivo do trabalho foi estudar a produtividade de 95 clones elites de café conilon de maturação intermediária, selecionados no norte do Estado, nas condições edafoclimáticas do sul do Espírito Santo. O trabalho foi conduzido na Fazenda Experimental de Bananal do Norte/Incaper, Cachoeiro de Itapemirim, ES. O delineamento experimental foi blocos casualizados com quatro repetições. A parcela experimental foi de cinco plantas. O espaçamento foi de 3,0 x 1,2 metros. O trabalho foi implantado em maio de 2004 e os resultados apresentados são de três colheitas. Os clones mais promissores com em três colheitas foram os 710/97, 24/93, 124/89, 26/86, 656/97, 15/6/89, 88/87/1, 32/89, 73/87/1e 172/89 com produtividades maiores que 61,00 sc.benef./ha, valores esses superiores a média do ensaio (53,13 sc. benef./ha) e das testemunhas. A grande variabilidade para produtividade, associada ao bom potencial de produção de vários clones e a outras características avaliadas darão subsídios para seleção de clones de maturação intermediária, que após o teste de incompatibilidade genética, poderão ser agrupados para formação e lançamento de variedade, mais específica para condições agroclimáticas do Sul do Estado do Espírito Santo. Há necessidade dos dados da quarta colheita para maior acurácia na seleção dos clones superiores. Os resultados poderão ser utilizados para a ampliação da base do conhecimento e para definição de estratégias de futuros trabalhos de melhoramento genético com o café conilon

Relação entre a perceção da imagem corporal e a obesidade em adolescentes

O presente projeto tem como objetivo determinar a relação entre a imagem corporal (através da perceção que os adolescentes têm da sua aparência física) e o efetivo índice de massa corporal (IMC), coadjuvado com o perímetro abdominal. A amostra será constituída por cerca de 300 crianças e adolescentes de ambos os sexos e com idades compreendidas entre os 13 e os 18 anos de idade. A avaliação da perceção da imagem corporal será realizada através de uma escala de silhuetas, que consiste no cálculo da insatisfação com a imagem corporal, tendo por base a diferença entre a imagem real e a ideal. Para estimar a prevalência de obesidade será calculado o IMC (através da medição do peso e altura) e medido o perímetro abdominal. Este projeto permitirá perceber a qualidade do peso corporal dos adolescentes, analisar e avaliar a discrepância entre a satisfação corporal e o efetivo IMC. Este estudo torna-se relevante para a motivação, no âmbito das aulas de Educação Física, no que respeita ao empenhamento motor, proporcionando não apenas o seu desenvolvimento motor, como também social, afetivo e cognitivo.CIEC - Centro de Investigação em Estudos da Criança, UM (UI 317 da FCT