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Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental disorder characterized by intellectual disability, infantile hypotonia, severe expressive language delay, and characteristic facial appearance, with a spectrum of other distinct clinical manifestations. Pathogenic mutations in the epigenetic modifier type 2 lysine methyltransferase KMT2C have been identified to be causative in KLEFS-2 individuals.Methods: This work reports a translational genomic study that applies a multidimensional computational approach for deep variant phenotyping, combining conventional genomic analyses, advanced protein bioinformatics, computational biophysics, biochemistry, and biostatistics-based modeling. We use standard variant annotation, paralog annotation analyses, molecular mechanics, and molecular dynamics simulations to evaluate damaging scores and provide potential mechanisms underlying KMT2C variant dysfunction.Results: We integrated data derived from the structure and dynamics of KMT2C to classify variants into SV (Structural Variant), DV (Dynamic Variant), SDV (Structural and Dynamic Variant), and VUS (Variant of Uncertain Significance). When compared with controls, these variants show values reflecting alterations in molecular fitness in both structure and dynamics.Discussion: We demonstrate that our 3D models for KMT2C variants suggest distinct mechanisms that lead to their imbalance and are not predictable from sequence alone. Thus, the missense variants studied here cause destabilizing effects on KMT2C function by different biophysical and biochemical mechanisms which we adeptly describe. This new knowledge extends our understanding of how variations in the KMT2C gene cause the dysfunction of its methyltransferase enzyme product, thereby bearing significant biomedical relevance for carriers of KLEFS2-associated genomic mutations.

This study investigates the functional significance of assorted variants of uncertain significance (VUS) in euchromatic histone lysine methyltransferase 1 (EHMT1), which is critical for early development and normal physiology. EHMT1 mutations cause Kleefstra syndrome and are linked to various human cancers. However, accurate functional interpretations of these variants are yet to be made, limiting diagnoses and future research. To overcome this, we integrate conventional tools for variant calling with computational biophysics and biochemistry to conduct multi-layered mechanistic analyses of the SET catalytic domain of EHMT1, which is critical for this protein function. We use molecular mechanics and molecular dynamics (MD)-based metrics to analyze the SET domain structure and functional motions resulting from 97 Kleefstra syndrome missense variants within the domain. Our approach allows us to classify the variants in a mechanistic manner into SV (Structural Variant), DV (Dynamic Variant), SDV (Structural and Dynamic Variant), and VUS (Variant of Uncertain Significance). Our findings reveal that the damaging variants are mostly mapped around the active site, substrate binding site, and pre-SET regions. Overall, we report an improvement for this method over conventional tools for variant interpretation and simultaneously provide a molecular mechanism for variant dysfunction.

O objetivo do trabalho foi propor e avaliar um sistema de tratamento de esgoto e de reúso agrícola aplicado em área rural, que permitisse contribuir com a melhoria das condições de esgotamento sanitário e incrementar a disponibilidade de água para uso na irrigação. O sistema de tratamento foi operado em escala unifamiliar, sendo composto de caixa de gordura, tanque de equalização, reator UASB e lagoas de polimento. O efluente tratado era encaminhado ao sistema de reúso, constituído por reservatório, motobomba e sistema de irrigação localizada, fertirrigando uma cultura do caju. Os resultados demonstraram que o sistema de tratamento operou com uma eficiência média de remoção de DBO5,20 de 74% e obteve efetividade na remoção de patógenos, visto que o efluente produzido apresentou um valor médio de E. coli de 2,2 * 104 NMP/100 mL e ausência de ovos de helmintos, atendendo às recomendações sanitárias da Organização Mundial da Saúde (OMS) para o uso pretendido. Preservaram-se também as concentrações iniciais de nitrogênio e fósforo, fundamentais para a nutrição da cultura explorada. O sistema de reúso incrementou a disponibilidade de água na propriedade em 40 m3/ano, reduzindo os gastos com adubação mineral e com a compra de água.

O objetivo deste estudo foi avaliar o efeito da aplicação de água residuária tratada na recuperação dos teores de matéria orgânica e fósforo em um solo degradado na região semiárida. Foi realizado um experimento com irrigação de cinco espécies florestais da caatinga, no qual foram aplicados três tratamentos que consistiram na variação do tipo e do volume de água aplicados ao solo: 7 L por semana de água de abastecimento; 7 L por semana de água residuária; e 14 L por semana de água residuária. Após decorridos dois anos de irrigação, foram retiradas amostras do solo e analisadas quanto aos teores de matéria orgânica e fósforo. O teor de matéria orgânica no tratamento com aplicação de 14 L de água residuária em relação à aplicação de água de abastecimento foi cinco vezes superior na camada superficial e oito vezes na subsuperficial, respectivamente. A partir dos resultados encontrados, pode-se considerar que a utilização de água residuária de esgotos domésticos tratados é uma alternativa para a recuperação da capacidade produtiva do solo, pelo incremento nos teores de matéria orgânica e fósforo. A irrigação com água residuária tratada pode proporcionar incremento elevado nos teores de matéria orgânica e fósforo no solo até os 30 cm de profundidade.

Going beyond analyzing gift-giving from a single love perspective, this paper aimed to understand the gift-giving from the love types experienced in romantic relationships, investigating the frequency, the reasons for the act of giving gifts among couples, and the sacrificial perception. Through a survey, 257 people participated in the research. The results revealed that the love characterized by eroticism and passion (Eros) is the predominant primary style among couples and is the one that guides individuals to gift more frequently through the social motive. Among the secondary love styles, we observed that the altruist (Agape) tends to be what most often induces gift-giving, generating a sacrificial perception of the offerer. We also saw that the sacrifice can be perceived in the gift-giving in other forms of love besides the Agape style. The study contributes to the literature by revealing that the gift-giving can vary according to the love styles and that the perception of sacrifice in this act is related to these styles. Thus, we propose the development of reflections and investigations focused on the consequences of love forms on consumer behavior, highlighting love styles theory for its ability to provide new interpretations of consumer relations.

The temperature dependence of the electrical properties of composites formed by biphasic sodium titanate and poly(o-methoxyaniline) (Na2Ti3O7/Na2Ti6O13/POMA) with different concentrations of POMA (0%, 1%, 10%, 15%, 35% and 50%) in the ceramic matrix was determined from measurements of complex impedance. The structural details were studied by means of X-ray diffraction, confirming the formation of the Na2Ti3O7/Na2Ti6O13/POMA composites. The displacement of the (200) reflection from 2θ = 10.45° to 11.15° in the composites with 10 and 15% of POMA suggested the partial replacement of H+ for Na+ in the Na2Ti3O7 structure. The thermal properties were investigated by Thermogravimetry and Differential Thermal Analysis. The Thermogravimetry curves of the composites with POMA content of 1, 10 and 15% presented profiles similar to that of pure sodium titanate sample. The composites with 35 and 50% of POMA showed a process at temperatures around 60–70 °C, which was associated with water absorbed by the polymer. The analysis of the complex impedance spectroscopy measurements revealed that the electrical resistivity of the composites in the range from 0 to 35% increased by two orders of magnitude, with different values for each concentration. This positive temperature coefficient of resistivity was less noticeable in the composite with highest POMA mass content (50%). The rapid increase in resistivity caused an increase in the relaxation time calculated from the time domain. The electrical response of the 50% of POMA compound changes in relation to what was observed in the other compounds, which suggests that there is a saturation limit in the increase in resistivity with POMA content.

The Caatinga biome, located in the northeastern region of Brazil, is the most populated dryland region on the planet and extremely vulnerable to land degradation due to climatological and anthropogenic factors. Energy partitioning substantially influences the local climate and affects the water cycle, which is of utmost importance for the economy and livelihood of the region. Recently, eddy covariance (EC) towers were installed in the area; thus, the scientific community can thoroughly assess the water and energy fluxes over this unique biome. While EC towers have a high degree of accuracy, they only measure energy fluxes over a small land footprint. Given the biome spatial heterogeneity, the use of EC-based techniques has the limitation of not comprehensively representing water and energy fluxes profiles over the entire region. Incorporating remote sensing (RS) data into the landscape analysis is a feasible solution to overcome this issue, given that satellite data can capture the phenomena represented by the EC measurements across large spatial scales. Our research studied the capability of the Surface Energy Balance Algorithm for Land (SEBAL) and MOD16-ET products to represent the EC measurements regarding energy and mass exchange, with an ultimate objective of applying the best approach to assess these fluxes regionally. We applied the SEBAL model using only remote sensing data from the Moderate Resolution Imaging Spectroradiometer (MODIS) sensor. The MOD16-ET model uses a different approach but is also based on MODIS data. Our analysis was based on three years (2014–2016) of data, which was limited to the availability of the EC tower data. We found that for the EC-based measurements, energy balance closure (EBC) achieved an average of 0.84, which is considerably high for the region. This is possibly due to the EC tower being installed on a preserved Caatinga plot, with reduced heterogeneity and higher plant density. When analyzing RS-based products to represent ET profiles in the region, we found that the SEBAL model accurately represented water fluxes during the wet season but not the dry season, whereas the MOD16-ET showed a better agreement with EC-based water fluxes throughout all the seasons. SEBAL inaccuracy in drylands is partially due to the narrow range between the cold and hot pixels in an image, as the algorithm relies on this range for input parameters, especially in the dry season. Therefore, we concluded that MOD16-ET is capable of better-representing water fluxes in the Caatinga region. We analyzed the fluxes regionally and quantified annual ET for the three years. These results are especially relevant for local policymakers on dealing with water and landscape issues in a region where the livelihood and well-being of the population is inextricably bound to water availability.

Fundus autofluorescence (FAF) imaging takes advantage of the fluorescent properties of some molecules, especially lipofuscin. FAF derives mainly from retinal pigment epithelium (RPE) and Bruch's membrane. Using confocal scanning laser ophthalmoscope (cSLO) we have previously shown that FAF associated with pigmented choroidal lesions can be attributed to mainly lipofuscin (orange pigment) within the RPE. Other causes of FAF include hyperpigmentation, drusen, or fibrous metaplasia probably because they also cause lipofuscin accumulation in the overlying RPE. There is a total or partial correlation between FAF and the foci of lipofuscin and hyperpigmentation in about 90% of the cases. The FAF patterns of choroidal melanocytic lesions were classified as patchy or diffuse. The patchy pattern was defined as the presence of distinct areas of increased FAF between areas of normal autofluorescence. The diffuse pattern was characterized by the presence of increased FAF with indistinct borders over a larger part (>50%) of the tumour in the absence of such intervening areas. Choroidal melanomas presented with either a diffuse or patchy pattern, whereas choroidal naevi demonstrated only the patchy pattern. Diffuse FAF pattern was more often associated with larger choroidal melanomas as well as with early venous and late hyperfluorescence on fluorescein angiography. Limitations of these observations depend on the field of depth of cSLO; thus, FAF from other planes could not be detected. Increased retinal thickness, intraretinal oedema, or presence of subretinal fluid may also affect the FAF signal.Eye (2009) 23, 497–503; doi:10.1038/eye.2008.244; published online 1 August 2008 [ABSTRACT FROM AUTHOR]

BACKGROUND: EUS-guided FNA (EUS-FNA) is the most accurate method for lymph-node staging of esophageal carcinoma; however, it may not be necessary when EUS features are present that strongly suggest a benign or a malignant origin. AIMS: (1) To identify a combination of EUS criteria that have a sufficient sensitivity and specificity to preclude the need for EUS-FNA and (2) to assess the cost savings derived from a selective EUS-FNA approach. METHODS: A total of 144 patients with esophageal carcinoma were prospectively evaluated with EUS. Accuracy of standard (hypoechoic, smooth border, round, or width > 5 mm) and modified (4 standard plus EUS identified celiac lymph nodes, >5 lymph nodes, or EUS T3/4 tumor) criteria were compared (receiver operating characteristic curves). Resource utilization of two diagnostic strategies, routine (all patients with lymph nodes) and selective EUS-FNA (FNA only in those patients in whom the number of EUS malignant criteria provides a sensitivity and a specificity <100%), were compared. RESULTS: Modified EUS criteria for lymph-node staging were more accurate than standard criteria (area under the curve 0.88 vs. 0.78, respectively). No criterion alone was predictive of malignancy; sensitivity and specificity reached 100% when a cutoff value of >1 and >6 modified criteria were used, respectively. The EUS-FNA selective approach may avoid performing FNA in 61 patients (42%). CONCLUSIONS: Modified EUS lymph-node criteria are more accurate than standard criteria. A selective EUS-FNA approach reduced the cost by avoiding EUS-FNA in 42% of patients with esophageal carcinoma. These results require confirmation in future studies. [ABSTRACT FROM AUTHOR]

ABSTRACT Brackish waters may vary in their chemical compositions, interfering with different plant responses to stress; therefore, the present study aimed to evaluate the production components of parsley plants subjected to levels of electrical conductivity in nutrient solutions with an initial ECns of 1.58 dS m-1, which was solubilized in water with the following water electrical conductivity configurations (ECw): 0.12 (control), 1.12, 2.12, 3.12, 4.12 and 5.12 dS m-1, resulting in six isosmotic levels (ECns = 1.7, 2.7, 3.7, 4.7, 5.7 and 6.7 dS m-1) in an interaction with four types of salt: NaCl, CaCl2, MgCl2 and KCl. The experimental design was completely randomized in a factorial scheme with five replicates. Two strategies were used to restore the volume consumed by the parsley plants, and the replacement was made with municipal-supply water (ECa = 0.12 dS m-1) in the first strategy and with the respective brackish waters in the second strategy. The total fresh and dry weights of the shoots and roots were evaluated as well as the total dry mass percentage of the shoots and roots. The responses of the plants to the different cationic natures was more evident at the highest levels of electrical conductivity tested, and the use of municipal-supply water to replace the evapotranspired depth mitigated the deleterious effects of salinity. In addition, greater reductions were observed in the fresh and dry mass when the replacement of the volume consumed was with the brackish waters.

RESUMO Em face de características relacionadas à infraestrutura, situação edáfica, hídrica e social, peculiares do semiárido brasileiro, é precípua a utilização de sistemas de cultivo alternativos que considerem tais características, inclusive a qualidade da água disponível. Dentro desta lógica, o objetivo do presente trabalho foi avaliar os efeitos do estresse salino sobre as variáveis de produção e pós-colheita de flores de girassóis cultivadas em um sistema hidropônico alternativo de baixo custo. Utilizou-se de delineamento experimental inteiramente casualizado, analisado em esquema fatorial 4 x 3, com três repetições; os tratamentos consistiram na utilização de quatro níveis de salinidade da solução nutritiva (1,7 – testemunha; 4,3; 6,0 e 9,0 dS m-1) na produção de três cultivares de girassol (sol noturno, bonito de outono e anão de jardim). Verificou-se que, mesmo sob efeito da salinidade da solução nutritiva até o nível de 9 dS m-1, o número de pétalas e a duração pós-colheita mantiveram-se dentro dos padrões comerciais para as cultivares “Sol-Noturno” e “Anão-de-Jardim”.

RESUMO Este trabalho apresenta análises de projeções de mudanças nos campos de precipitação e temperatura em simulações de downscaling dinâmico no contexto do projeto CORDEX. O domínio da simulação corresponde às Américas Tropicais, mas a região de estudo se restringe a duas sub-regiões do Nordeste Brasileiro: Norte (NNEB) e Sul (SNEB). O modelo regional utilizado nas simulações foi o RAMS6.0, forçado por dados do modelo global HadGEM2-ES. Foram analisados os períodos presente e três "fatias de tempo" futuras sob o cenário climático RCP8.5. Para a precipitação e temperatura no clima presente, a simulação foi comparada com os dados do CRU com finalidade de avaliar o desempenho e os erros de viés dos modelos. O RAMS6.0 mostra-se superior ao HadGEM2-ES em aspectos como, a representação da fase do ciclo anual de precipitação e temperatura, redução do viés seco na estação seca sobre o NNEB e distribuição espacial de ambas as variáveis, especialmente temperatura. Entretanto, o RAMS6.0 também exacerba alguns erros do modelo global, como o viés úmido na estação chuvosa. No clima futuro, foram analisadas as mudanças nos valores climatológicos e nos campos anuais das duas variáveis. Alguns padrões projetados pelos dois modelos incluem redução da precipitação no inverno austral e aumento da temperatura no decorrer do século.

A crescente geração de efluentes líquidos e o seu lançamento no meio ambiente tem-se constituído numa preocupação mundial devido aos impactos negativos gerados. O objetivo deste trabalho foi avaliar os possíveis impactos da aplicação do efluente proveniente da suinocultura, após seu tratamento, nos atributos químicos do solo, em área cultivada com algodão. O experimento foi realizado no Perímetro Irrigado Formoso, no município de Bom Jesus da Lapa, BA, em área experimental da Companhia de Desenvolvimento dos Vales do São Francisco e do Parnaíba - CODEVASF. Foram testados cinco tratamentos: MC - manejo convencional = água de "boa qualidade" + adubação química; ET100 = 100 % de efluente tratado; ET75:25 = 75 % de efluente tratado + 25 % de água boa; ET50:50 = 50 % de efluente tratado + 50 % de água boa; ET25:75 = 25 % de efluente tratado + 75 % de água boa. O delineamento experimental foi em blocos ao acaso com quatro repetições. Os atributos químicos do solo avaliados foram: pH, condutividade elétrica, teores de N, P, K, Ca, Mg, Na, Zn, Fe, Mn e Cu. Em geral, quanto aos atributos químicos do solo, a adoção do manejo com efluente tratado apresentou resultados semelhantes aos obtidos com o MC, favorecendo a melhoria da fertilidade do solo e constituindo-se em uma fonte alternativa de fertilização de baixo custo. O efluente tratado, independentemente do fator de diluição, também demonstrou ser uma fonte alternativa de água.The negative impacts of the increasing volume of wastewater and of its discharge into the environment have become a worldwide concern. This study assessed the potential impacts of using treated effluent from pig raising for cotton irrigation, to evaluate their effects on soil chemical properties, and compare the results with those under conventional management. The experiment was conducted in an experimental area of the Company for the Development of the San Francisco and Parnaíba valleys "Perímetro Irrigado Formoso", in Bom Jesus da Lapa, State of Bahia. Five treatments were analyzed: MC - conventional management = irrigation with good water quality + chemical fertilizers; ET100 = irrigation with 100 % treated effluent; ET75:25 = 75 % treated effluent plus 25 % good-quality water; ET50:50 = 50 % treated effluent plus 50 % good-quality water; and ET25:75 = 25 % treated effluent plus 75 % good-quality water. The experiment was arranged in a randomized block design with four replications. The soil chemical properties studied were pH, electrical conductivity, and content of N, P, K, Ca, Mg, Na, Zn, Fe, Mn, and Cu. In general, the effect of wastewater management on soil chemical properties was similar to MC, favoring the improvement of soil fertility, indicating swine wastewater as an alternative source of low-cost fertilizer. Treated effluent, regardless of the dilution factor, also proved to be an alternative water source.

Este trabalho visa a avaliar o efeito da adubação nitrogenada e potássica na produção de gérbera (Gerbera jamesonni), tipo comercial Rambo, utilizando-se de dois tipos de águas (residuária de origem urbana e de abastecimento) para irrigação. O experimento foi realizado em casa de vegetação, na Universidade Federal de Campina Grande, de outubro de 2006 a janeiro de 2007, abrangendo um ciclo completo de produção. O delineamento experimental utilizado foi o de blocos casualizados, com três repetições, e os tratamentos foram dispostos em esquema fatorial 3 x 4 x 2, em que os fatores estudados foram: níveis crescente de nitrogênio (N1 = 100; N2 = 200 e N3 = 300 mg L-1) e potássio (K1 = 100; K2 = 200; K3 = 300 e K4 = 400 mg L-1) adicionados a uma solução contendo fósforo (P1 = 50 mg L-1); com a utilização de dois tipos de água (A1 = abastecimento, e A2 = residuária de origem urbana). As variáveis monitoradas foram: número de botões florais emitidos e intervalo de emissão; número de flores colhidas e intervalo entre colheitas; diâmetro das flores e comprimento das hastes. O incremento de nitrogênio, apesar de propiciar incremento no número de botões e reduzir o tempo de emissão de botões, ocasionou efeito negativo quanto à qualidade das flores produzidas; já o incremento de potássio foi benéfico. O uso de água residuária possibilitou melhoria significativa na produtividade e redução no tempo de colheita sem efeito significativo na qualidade das flores produzidas. Não foram observadas interações significativas entre os fatores estudados.This study aimed to evaluate the effect of nitrogen and potassium in production of Gerbera (Gerbera jamesonni), commercial type Rambo, using two types of water (residual of urban origin and muncipality supply water) for irrigation. The experiment was conducted in a greenhouse, at the Federal University of Campina Grande, from October 2006 to January 2007, covering a complete cycle of production. The experimental design was in a completely randomized blocks with three replications and the treatments were arranged in a 3 x 4 x 2 factorial scheme, where the factors consisted of increasing levels of nitrogen (N1 = 100, N2 = 200 and N3 = 300 mg L-1) and potassium (K1 = 100, K2 = 200, K3 = 300 and K4 = 400 mg L-1) added to a solution of phosphorus (P = 50 mg L-1) with the use of two types of water (A1 = supply A2 = residual water of urban origin). The variables monitored were: number of buttons and interval between emission of flower buds, number of flowers collected and interval between flower pickings, flower diameter and stem length. The increase of nitrogen in spite of increasing the number of buttons and reducing the interval between the emissions of flower buttons, caused negative effect on the quality of flowers produced, while the increase in potassium was beneficial. The use of wastewater resulted in significant improvement in productivity and reduction in the interval between flower pickings without significant effect on the quality of flowers produced. There were no significant interactions among the factors studied.

Tannery effluents are very dangerous for the environment since they contain large amounts of dangerous and biorecalcitrant contaminants (organic matter and Cr(VI)). This paper reports the efficiency of heterogeneous photocatalysis, based on the application of solar and artificial radiation, furnished by UV lamps, using TiO2 fixed on a flat plate, in the treatment of synthetic effluents. The results of COD and Cr(VI) demonstrate that the use of solar radiation is the most efficient way to perform the photocatalytic treatment of these effluents since a minimum removal of 62 and 61% was observed for Cr(VI) and organic matter, respectively.

Com este trabalho, teve-se o objetivo de determinar a viabilidade de quatro lâminas de águas residuárias de origem urbana (75; 100; 125 e 150% da evapotranspiração da cultura) na produção de gérbera (Gerbera jamesonni), tipo comercial Rambo, comparando-se os resultados com os obtidos por meio da adoção do manejo convencional (adubação orgânica, química e irrigação com água de abastecimento equivalente a 100% da evapotranspiração). O experimento foi realizado em casa de vegetação, na Universidade Federal de Campina Grande, de fevereiro a julho de 2006, abrangendo um ciclo completo de produção. O delineamento experimental foi em blocos casualizados, com três repetições, e as variáveis monitoradas foram: número de botões florais emitidos e intervalo de emissão; número de flores colhidas e intervalo entre colheitas; diâmetro das flores e comprimento das hastes. Para as variáveis monitoradas, apenas o comprimento das hastes foi afetado significativamente pelas lâminas de água residuária aplicadas. A adoção do manejo com água residuária foi melhor que o convencional, em todas as variáveis, com exceção de comprimento das hastes, constatando-se que esse tipo de água constitui recurso importante no suprimento hídrico e de nutrientes para a cultura da gérbera, potencializando produtividade compatível ou melhor que o uso de técnicas de produção convencional.The objective of the present study was to evaluate the viability of four depths (equivalent to 75; 100; 125 and 150% of crop evapotranspiration) of wastewater from urban origin in production of gerbera (Gerbera jamesonni), commercial type Rambo and contrast the results obtained with those adopting conventional management (organic and chemical manuring and irrigation with urban supply water equivalent to 100% evapotranspiration). The experiment was conducted on a greenhouse of Universidade Federal de Campina Grande - PB - Brazil, during February to July 2006, during a complete cycle of production. The experimental design consisted of randomized blocks with three replications. The variables monitored were number of flowers buds and emission interval, number of flowers collected and interval of harvest, diameter of flowers and length of flower stems. For the monitored variables, only length of flower stem presented significant effect among the depths of irrigation with wastewater. The adoption of management with wastewater showed superiority for the variables evaluated in relation to conventional management except the length of flower stem. These results demonstrate that the use of wastewater constitutes an important source for supply of nutrients and water to gerbera crop increasing the potential of compatible productivity or better than the conventional production techniques.

We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information, the 118 individuals consistently affected were distributed in generations IV (n=2), V (n=28), VI (n=57), VII (n=25) and VIII (n=6) of the genealogical tree. Sixty affected members are alive, 37 of them (61.6%) live in the Northeast region, 12 (20%) in the Southeast, 9 (15%) in the Center-West and 2 (3.3%) in the North. This genealogical survey was based only on 4 of the 10 children of the ancestral couple since the destiny of the remaining 6 is unknown. We propose that other Brazilian families with SCA7 may have the same genetic origin.Avaliamos retrospectivamente 320 anos da história e da genealogia de uma família brasileira portadora de ataxia espinocerebelar do tipo 7 (AEC7). O casal ancestral é oriundo do Estado do Ceará e a árvore genealógica foi composta de 577 indivíduos, sendo 217 do sexo masculino (37,6%), 255 do sexo feminino (44,1%) e 105 de sexo ignorado (18,1%). Até o presente momento, 118 indivíduos foram acometidos, distribuídos nas gerações IV (n=2), V (n=28), VI (n=57), VII (n=25) e VIII (n=6) da árvore genealógica. Entre os doentes atualmente vivos (n=60), 37 deles (61,6%) encontram-se na região Nordeste, 12 (20%) na região Sudeste, 9 (15%) na região Centro-Oeste e 2 (3,3%) na região Norte. Uma vez que a reconstituição da árvore genealógica foi baseada em apenas 4 dos 10 filhos do casal ancestral devido ao desconhecimento do destino dos outros 6, levantamos a hipótese de que outras famílias brasileiras com AEC7 possam ter a mesma origem genética.

Para a realização do zoneamento agroclimático da aceroleira na Região Nordeste do Brasil foram utilizados índices baseados no balanço hídrico climatológico. Calculou-se, para 355 estações pluviométricas dos Estados da Região e de Estados vizinhos, o balanço hídrico pelo método de Thornthwaite & Mather, considerando 125 mm de retenção de água no solo. Posteriormente, utilizando-se os valores de índice hídrico de Thorntwaite e temperatura média anual obtidos, delimitou-se sete zonas com diferentes classes de aptidão para a cultura da acerola. Concluiu-se que a Região Nordeste apresentou áreas com boa aptidão agroclimática para o cultivo da aceroleira.

Resumo O comportamento espacial e temporal do saldo de radiação (Rn) à superfície terrestre tem sido tema de estudos sobre os ecossistemas de regiões semiáridas do globo e poucos estudos têm sido destinados à região semiárida do Brasil, especificamente no ecossistema de Caatinga. Logo, o objetivo deste estudo foi utilizar uma metodologia que não necessite diretamente de dados de superfície para estimar o Rn na região semiárida da Paraíba, a partir de dados orbitais do sensor MODIS, e validar com dados medidos em áreas experimentais de Caatinga em recuperação e degradada. Diante dos resultados encontrados, pode-se constatar a eficácia da metodologia proposta, sendo a mesma mais precisa em áreas com o solo mais descoberto. De acordo com a análise estatística, a metodologia apresentou uma melhor qualidade do ajuste para a área em recuperação, com a variação explicada de 78% e para a área degradada de 61%.

ABSTRACTThe reduction on crop production observed in semiarid conditions is closely linked to soils degradation in their physical, microbiological and fertility aspects. Based on this premise, the effects of different types of organic fertilizers associated to the use of mulching in the production of cowpea grown in Paraíba state, Brazil, under semiarid conditions, was studied. The research was conducted under field conditions in the municipality of Casserengue, PB, from April to July 2010. The statistical design in randomized block design with five treatments and five replicates was used, totaling 25 experimental units. Treatments consisted on application of cattle manure or biofertilizer on presence or absence of mulch, plus a control treatment, without fertilization or mulching. It was found that cowpea plants grown under the interaction between manure and mulch had higher phytomass and grain production.

Há cêrca de vinte anos, pesquisando os velhos arquivos de Mariana do tempo do ouro, encontrei por acaso, amarrados em maços em cima de uma das estantes e ali deixados talvez por esquecimento, vários e interessantes alfarrábios. Abrindo um dêsses maços por curiosidade, vi que se tratava da descrição de uma antiga fortaleza à margem do rio das Velhas, nas proximidades da fazenda do Jaguára.

Introduction: Cytopathology fellows are required to enter their fine-needle aspiration (FNA) case numbers in an online data collection system, the Accreditation Council for Graduate Medical Education (ACGME) Case Log system. This study reviewed this data to examine trends in FNA case numbers during fellowship training., Methods: A retrospective review of the ACGME Accreditation Data System (ADS) FNA Case Log data was performed for academic years 2006-2019. For 2006-2016, total and average numbers of FNAs performed per academic year were available. After 2016, data also included the number of programs and trainees, national averages, standard deviation, minimum, median, maximum, and percentiles for the number of FNAs performed., Results: The number of FNAs documented by cytopathology fellows has gradually increased from 2006 (average 10.9) to 2013 (average 18.6) and dramatically increased in 2014 (average 38.0). Averages have remained greater than 30 FNAs documented per academic year since 2014, with some variation. However, a decline was observed in 2019, likely due to the COVID-19 pandemic., Conclusions: FNA procedures reported in the ACGME Case Log System indicate vast differences in cytopathology fellowship educational experiences and settings. After logging FNAs becoming an ACGME requirement in 2013, the average number of FNAs has been greater than 30 per year and provides some guidance for programs with respect to the number of FNAs being reported by cytopathology fellows nationally., (Copyright © 2021 American Society of Cytopathology. Published by Elsevier Inc. All rights reserved.)

Post-transplant lymphoproliferative disorder (PTLD) has rarely been associated with ocular manifestations. We report a case of bilateral ocular involvement by PTLD with histopathologic features of extranodal marginal zone (MALT) lymphoma in an 8-year-old boy following orthotopic heart transplantation. The anterior segment disease was treated successfully using a combination of intraocular and systemic injections of humanized anti-CD20 antibody (rituximab)., (Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Purpose: To report a new corneal finding in Muckle-Wells syndrome (MWS) and its subsequent treatment., Methods: The medical chart of a 45-year-old woman with a history of MWS was reviewed. She presented with progressive bilateral stromal edema and scarring that had been worsening over the past year. The left eye, which had more severe stromal scarring and a best spectacle-corrected visual acuity (BSCVA) of hand motion, had a history of cataract removal with lens implantation, argon laser trabeculoplasty, and trabeculectomy 2 years previously for open-angle glaucoma. The right eye had also undergone argon laser trabeculoplasty and trabeculectomy and had a BSCVA of 20/100., Results: The patient underwent penetrating keratoplasty in the more severely affected left eye. Nine months postoperatively the patient had a BSCVA of 20/40 in the eye that had undergone transplantation. The pathologic specimen demonstrated a chronic keratitis with focal calcification of Bowman layer, localized Descemet membrane breaks, marked endothelial loss, and pronounced intrastromal epithelioid histiocytes without evidence of amyloidosis., Conclusions: To the best of our knowledge, this case highlights a new association with MWS. Epithelioid histiocytes have been demonstrated in other parts of the body in patients with MWS including the skin and joints, which is sometimes accompanied by amyloidosis.

Purpose: The role of T regulatory (Treg) cells in blunting immune response to cancer appears to be significant, but the presence of Treg cells in uveal melanoma has not been extensively examined. We therefore evaluated the presence of tumor-infiltrating Treg cells in uveal melanomas., Methods: A retrospective search of Mayo Clinic records from 2000 to 2005 was performed to identify cases of eyes enucleated as a consequence of uveal melanoma. Histologic examination included location of the tumor, presence of emissary canal invasion, direct sclera extension, extraocular extension, cell type and predominant cell type, mitotic figures per 40 high-power fields, lymphocytic tumor invasion, necrosis, microvascular pattern, and presence of CD3, CD4, CD25, and Foxp3cells. Factors obtained by chart review were also evaluated, including clinical size and ultrasound thickness of tumor before enucleation, patient age at time of enucleation, systemic evaluation for metastatic disease both before and after enucleation, monosomy 3, and systemic status at last patient visit., Results: Of 42 enucleated eyes, 17 (40.5 %) were found to have lymphocytic infiltrate and 5 (11.9%) were considered positive for the presence of Treg cells (CD3+CD4+CD25+Foxp3+ or CD3+CD4+CD25-Foxp3+). Thus 29.4% (5 of 17) of those with lymphocytic infiltates had Treg cells, and 4 of the 5 with Treg cells had a large lymphocytic infiltrate (>1400 CD3 cells). When using "death due to disease" as the hazard ratio (HR) end point, the HR for presence of CD3 was 5.5 (P = .03) and for clinical size, 1.2 (P = .03). Furthermore, when using "presence of metastasis" as the end point, the HR for presence of CD3 was 3.6 (P = .05) and for clinical size, 1.3 (P = .003)., Conclusion: Though T lymphocyte infiltration is a bad prognostic indicator, Treg cells are rarely seen in enucleated choroidal melanoma, so their local effect may be limited in contradistinction to other cancers.

Purpose: To review the clinical, radiological, and histopathologic features in 8 patients with natural killer/T-cell lymphoma (NKTL) involving the orbit and/or ocular adnexa, and to describe the responses of these patients to various treatment regimens., Design: Retrospective observational case series., Participants: Eight patients (5 male, 3 female) with NKTL involving the orbit and/or ocular adnexa were identified from 1999 through 2005. The mean age at presentation was 45 years (range, 26-65)., Methods: We retrospectively identified patients with NKTL of the ocular adnexa treated in the authors' medical centers from 1999 through 2004 using computerized diagnostic index retrieval. The clinical records and radiologic studies were analyzed to define modes of presentation and progression, response to therapy, and areas of anatomic involvement. Histopathologic findings, including the presence of CD3, CD56, and Epstein-Barr virus-encoded mRNA in each patient, were reviewed., Main Outcome Measurements: Time of survival from presentation to last known follow-up and tumor-related death., Results: Four of the 8 patients (50%) with NKTL involving the orbit or ocular adnexa had systemic involvement at presentation. Five of the 8 patients (62.5%) had concurrent sinonasal involvement, whereas 3 (37.5%) had orbital involvement alone. All lesions demonstrated CD3, CD56, and/or Epstein-Barr virus positivity on immunopathology studies. Therapy consisted of various chemotherapeutic regimens typically employed in the treatment of non-Hodgkins lymphoma, steroids, surgical intervention, and radiation. Seven (87.5%) patients died 5 weeks to 13 months after presentation, and 1 (12.5%) is alive without disease (5-year follow-up)., Conclusions: Natural killer/T-cell orbital lymphoma is a rare Epstein-Barr virus-associated neoplasm that may occur with or without associated sinonasal involvement. Our series, the largest cohort reported to date, demonstrates the high lethality of this condition despite aggressive conventional therapy, suggesting that new treatment options should be considered early in the course of treatment of patients with this disorder.

In this report, we demonstrate that B7-H1, a B7 family molecule implicated in tumor immune evasion, is constitutively expressed on 66% of freshly isolated squamous cell carcinomas of the head and neck (SCCHN). To define the potential impact of tumor-associated B7-H1 on immunotherapy, the B7-H1-negative mouse SCC line, SCCVII, was transfected to express B7-H1. Although all of the animals succumbed to B7-H1/SCCVII tumors even after adoptive T-cell immunotherapy, the infusion of B7-H1 blocking monoclonal antibody with activated T cells cured 60% of animals. These data support B7-H1 blockade as a new approach to enhance the efficacy of T-cell immunotherapy.

The Association of Directors of Anatomic and Surgical Pathology developed recommendations for the surgical pathology report for common malignant tumors. The recommendations for tumors of the eye and its adnexa are reported.