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Volatile organic compounds (VOCs) comprises a broad class of small molecules (up to ~300 g/mol) produced by biological and non-biological sources. VOCs play a vital role in an organism's metabolism during its growth, defense, and reproduction. The well-known 6-pentyl-α-pyrone (6-PP) molecule is an example of a major volatile biosynthesized by Trichoderma atroviride that modulates the expression of PIN auxin-transport proteins in primary roots of Arabidopsis thaliana during their relationship. Their beneficial relation includes lateral root formation, defense induction, and increased plant biomass production. The role of 6-PP has been widely studied due to its relevance in this cross-kingdom relationship. Conventional VOCs measurements are often destructive; samples require further preparation, and the time resolution is low (around hours). Some techniques enable at-line or real-time analyses but are highly selective to defined compounds. Due to these technical constraints, it is difficult to acquire relevant information about the dynamics of VOCs in biological systems. Low-temperature plasma (LTP) ionization allows the analysis of a wide range of VOCs by mass spectrometry (MS). In addition, LTP-MS requires no sample preparation, is solvent-free, and enables the detection of 6-PP faster than conventional analytical methods. Applying static statistical methods such as Principal Component Analysis (PCA) and Discriminant Factorial Analysis (DFA) leads to a loss of information since the biological systems are dynamic. Thus, we applied a time series analysis to find patterns in the signal changes. Our results indicate that the 6-PP signal is constitutively emitted by T. atroviride only; the signal shows high skewness and kurtosis. In A. thaliana grown alone, no signal corresponding to 6-PP is detected above the white noise level. However, during T. atroviride-A. thaliana interaction, the signal performance showed reduced skewness and kurtosis with high autocorrelation. These results suggest that 6-PP is a physiological variable that promotes homeostasis during the plant-fungal relationship. Although the molecular mechanism of this cross-kingdom control is still unknown, our study indicates that 6-PP has to be regulated by A. thaliana during their interaction.
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ABSTRACT BACKGROUND: Gastrointestinal (GI) bleeding is an important cause of mortality and morbidity among geriatric patients. OBJECTIVE: To investigate whether the shock index and other scoring systems are effective predictors of mortality and prognosis among geriatric patients presenting to the emergency department with complaints of upper GI bleeding. DESIGN AND SETTING: Prospective cohort study in an emergency department in Bursa, Turkey. METHODS: Patients over 65 years admitted to a single-center, tertiary emergency service between May 8, 2019, and April 30, 2020, and diagnosed with upper GI bleeding were analyzed. 30, 180 and 360-day mortality prediction performances of the shock index and the Rockall, Glasgow-Blatchford and AIMS-65 scores were evaluated. RESULTS: A total of 111 patients who met the criteria were included in the study. The shock index (P < 0.001) and AIMS-65 score (P < 0.05) of the patients who died within the 30-day period were found to be significantly different, while the shock index (P < 0.001), Rockall score (P < 0.001) and AIMS-65 score (P < 0.05) of patients who died within the 180-day and 360-day periods were statistically different. In the receiver operating characteristic (ROC) analysis for predicting 360-day mortality, the area under the curve (AUC) value was found to be 0.988 (95% confidence interval, CI, 0.971-1.000; P < 0.001). CONCLUSION: The shock index measured among geriatric patients with upper GI bleeding at admission seems to be a more effective predictor of prognosis than other scoring systems.
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Resumen Al implementar la tecnología biofloc, la aireación es uno de los problemas para obtener buenos resultados productivos, por tanto, el objetivo fue comparar la eficiencia de la tubería PVC y manguera difusora, como sistema de aireación en cultivos con biofloc y dos niveles de proteína. Se aplicó un diseño completamente al azar con arreglo factorial con cuatro tratamientos, tres réplicas cada uno, con los dos sistemas de aireación y dos niveles de proteína bruta (PB) en el alimento balanceado en producciones de camarón Litopenaeus vannamei, distribuidos de la siguiente manera: para el tratamiento uno (T1) se utilizó tubería PVC y 28% de PB; para T2, manguera difusora y 22% de PB; para T3, manguera difusora y 28% de PB; para T4, tubería PVC y 22% de PB, todos producidos con biofloc. Las variables peso, talla, alimentación y el factor tratamiento influencian significativamente en la concentración de oxígeno disuelto (OD, mg/l) en la tarde, T1 es el que mejor se comportó en la tarde y T3 en la mañana. El tratamiento con menor sedimentación a los 20 y 30 minutos en la prueba de cono Imhoff fue T4 y el de mayor sedimentación fue el T3. No hubo diferencia significativa en la supervivencia entre tratamientos, los niveles de proteína sí influencian en las concentraciones del OD. El uso de tubería PVC aporta en el incremento de peso y de la concentración de OD en relación al sistema de manguera difusora con el 22% y 28% de proteína bruta.
Abstract When implementing biofloc technology, aeration is one of the problems to obtain good productive results, therefore, the objective was to compare the efficiency of PVC pipe and diffuser hose, as an aeration system in crops with biofloc and two levels of protein. A completely randomized design with factorial arrangement was applied with four treatments with three replicates each, with the two aeration systems and with two levels of crude protein (CP) in the balanced feed in Litopenaeus vannamei shrimp productions, distributors of the following way, for treatment one (T1) PVC pipes and 28% PB were achieved; for T2, diffuser hose and 22% PB; for T3, diffuser hose and 28% PB; for T4, PVC pipe and 22% PB, produced with biofloc. The variables weight, height, feeding and the treatment factor significantly influence the concentration of dissolved oxygen (DO, mg/l) in the afternoon. T1 is the one that behaves best in the afternoon and T3 in the morning, the treatment with the lowest sedimentation at 20 and 30 minutes in the Imhoff cone test was T4 and the highest sedimentation was T3. There was no significant difference in survival between treatments, protein levels did influence OD concentrations. The use of PVC pipe provides an increase in weight and DO concentration in relation to the diffuser hose system with 22% and 28% crude protein.
Resumo Ao implementar a tecnologia de bioflocos, a aeração é um dos problemas para obter bons resultados produtivos, portanto, objetivou-se comparar a eficiência do tubo de PVC e da mangueira difusora, como sistema de aeração em lavouras com bioflocos e dois níveis de proteína. Foi aplicado um delineamento inteiramente casualizado com arranjo fatorial com quatro tratamentos com três repetições cada, com os dois sistemas de aeração e com dois níveis de proteína bruta (PB) na ração balanceada em produções de camarão Litopenaeus vannamei, distribuidores da seguinte forma, para tratamento com tubo de PVC (T1) e PB de 28%; para T2, mangueira difusora e PB 22%; para T3, mangueira difusora e PB 28%; para T4, tubo de PVC e PB 22%, produzido com biofloco. As variáveis peso, altura, alimentação e o fator de tratamento influenciam significativamente na concentração de oxigênio dissolvido (OD, mg/l) no período da tarde, T1 é o que apresenta melhor desempenho no período da tarde e T3 no período da manhã, tratamento com menor sedimentação aos 20 e 30 minutos no teste do cone de Imhoff foi T4 e a maior sedimentação foi T3. Não houve diferença significativa na sobrevivência entre os tratamentos, os níveis de proteína influenciaram as concentrações de DO. A utilização de tubo de PVC proporciona um aumento de peso e concentração de OD em relação ao sistema de mangueiras difusoras com 22% e 28% de proteína bruta.
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OBJECTIVES: To verify the agreement between the Alberta Infant Motor Scale assessment and maternal perception of the motor development in full-term infants. METHODS: This is a cross-sectional study involving 161 infants and mothers. Children were assessed with the Alberta Infant Motor Scale (AIMS) for motor developmental classification. Mothers completed questionnaires aiming to identify maternal profiles and impressions about their children's development. The kappa test was used to analyze the concordance between AIMS and mother perceptions. RESULTS: A total of 83.2% of the sample was classified as typically developing and 16.8% as suspected or delayed development. The maternal impression indicates that 77% of infants are developing typically, 19.9% perceived their infants' development as advanced, and 3.1% delayed development. There was low agreement between the mothers' perceptions and AIMS classifications (kappa = 0.153). CONCLUSIONS: Maternal perception of their infant's development was unsatisfactory for evaluation of motor development because their perceptions did not agree with the findings of the AIMS.
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Desenvolvimento Infantil , Mães , Alberta , Criança , Estudos Transversais , Feminino , Humanos , Lactente , PercepçãoRESUMO
ABSTRACT BACKGROUND: Traditionally peptic ulcer disease was the most common cause of upper gastrointestinal (UGI) bleed but with the changing epidemiology; other etiologies of UGI bleed are emerging. Many scores have been described for predicting outcomes and the need for intervention in UGI bleed but prospective comparison among them is scarce. OBJECTIVE: This study was planned to determine the etiological pattern of UGI bleed and to compare Glasgow Blatchford score, Pre-Endoscopy Rockall score, AIMS65, and Modified Early Warning Score (MEWS) as predictors of outcome. METHODS: In this prospective cohort study 268 patients of UGI bleed were enrolled and followed up for 8 weeks. Glasgow Blatchford score, Endoscopy Rockall score, AIMS65, and MEWS were calculated for each patient, and the area under the receiver operating characteristic (AUC-ROC) curve for each score was compared. RESULTS: The most common etiology for UGI bleed were gastroesophageal varices 150 (63.55%) followed by peptic ulcer disease 29 (12.28%) and mucosal erosive disease 27 (11.44%). Total 38 (15.26%) patients had re-bleed and 71 (28.5%) patients died. Overall, 126 (47%) patients required blood component transfusion, 25 (9.3%) patients required mechanical ventilation and 2 (0.74%) patients required surgical intervention. Glasgow Blatchford score was the best in predicting the need for transfusion (cut off - 10, AUC-ROC= 0.678). Whereas AIMS65 with a score of ≥2 was best in predicting re-bleed (AUC-ROC=0.626) and mortality (AUC-ROC=0.725). CONCLUSION: Gastrointestinal bleed was most commonly of variceal origin at our tertiary referral center in Northern India. AIMS65 was the best & simplest score with a score of ≥2 for predicting re-bleed and mortality.
RESUMO CONTEXTO: Tradicionalmente, a doença úlcera péptica era a causa mais comum de sangramento digestivo alto, mas com a mudança da epidemiologia, outras etiologias do sangramento do trato digestivo alto estão emergindo. Muitas pontuações têm sido descritas para prever resultados e a necessidade de intervenção na hemorragia gastrointestinal superior, mas a comparação prospectiva entre elas é escassa. OBJETIVO: Este estudo foi planeado para determinar o padrão etiológico de pacientes com hemorragia digestiva alta e comparar os escores de Glasgow Blatchford, o Rockall pré-endoscopia, o AIMS65 e o Early Warning modificado (MEWS) como preditores do resultado. MÉTODOS: Neste estudo prospetivo de coorte, 268 pacientes com sangramento digestivo alto foram acompanhados durante 8 semanas. Os escores Glasgow Blatchford, Rockall pré-endoscopia, AIMS65 e MEWS foram calculados para cada paciente, e a área sob a curva (AUC-ROC) para cada pontuação foi comparada. RESULTADOS: A etiologia mais comum para a hemorragia gastrointestinal alta foi varizes gastroesofágicas 150 (63,55%), seguida de úlcera péptica 29 (12,28%) e de doença erosiva de mucosa 27 (11,44%). No total, 38 (15,26%) doentes voltaram a sangrar e 71 (28,5%) doentes morreram. No total, 126 (47%) doentes necessitaram de transfusão de componentes sanguíneos, 25 (9,3%) necessitaram de ventilação mecânica e 2 (0,74%) destes doentes necessitaram de intervenção cirúrgica. O escore de Glasgow Blatchford foi o melhor na previsão da necessidade de transfusão (corte - 10, AUC-ROC =0,678). Enquanto o AIMS65 com uma pontuação de ≥2 foi o melhor na previsão de ressangramento (AUC-ROC =0,626) e mortalidade (AUC-ROC =0,725). CONCLUSÃO: O sangramento gastrointestinal alto mais comum é de origem varicosa em centro de referência terciária. O AIMS65 é o melhor escore simples, com uma pontuação de ≥2 para prever o ressangramento e a mortalidade.
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RESUMEN Se estudió la biología reproductiva del Bocachico, Prochilodus magdalenae, en el río San Jorge, Colombia. La especie es un pez con proporción sexual hembra: macho de 1,2:1, diferente a lo esperado. Presenta desarrollo ovocitario sincrónico en dos grupos, un desove anual que se extiende de abril a septiembre asociado al ciclo hidrológico del río San Jorge, talla media de madurez sexual estimada en 30,2 cm LT, ovocitos grandes de 950 μm y fecundidad promedio de 109 972 ovocitos, cuya ecuación fue F =7271,6 WO0,60, r =0,93, n =14.
ABSTRACT The reproductive biology of the Bocachico, Prochilodus magdalenae, in the San Jorge River, Colombia, was studied. The species is a fish with sexual proportion female: male of 1.2:1, different than expected. It presents synchronous ovocitary development in two groups, an annual spawning that extends from April to September associated to the hydrological cycle of the San Jorge River, length at first maturity estimated in 30.2 cm TL, large oocytes of 950 μm, and average fecundity of 109 972 oocytes, whose equation was F = 7271,6 OW0,60, r = 0,93, n = 14.
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RESUMO A prematuridade é fator de risco para atraso do desenvolvimento motor, e recomenda-se o acompanhamento desses lactentes nos primeiros dois anos de vida. Verificar a confiabilidade intra e interexaminadores da Escala Motora Infantil de Alberta (EMIA) em ambulatório de seguimento de recém-nascidos de risco de uma maternidade pública. Estudo prospectivo realizado em ambulatório de seguimento de recém-nascidos de risco. As avaliações do desenvolvimento motor foram realizadas por meio da EMIA, por dois avaliadores previamente treinados. O Coeficiente de Correlação Intraclasse (CCI) foi utilizado para análise das confiabilidades. Para a comparação entre as avaliações intraexaminadores foi realizado o Teste T pareado ou Teste de Wilcoxon. O Teste T independente foi utilizado para comparar as avaliações interexaminadores. A correlação entre as variáveis foi analisada a partir do Teste de Pearson ou Spearman. Para avaliar a concordância entre os escores foi realizada análise de Bland Altman. Foram avaliados 31 recém-nascidos pré-termo (RNPT) com idade corrigida média de 8,47 ± 4,49. Não houve diferença significativa entre as avaliações intraexaminadores e interexaminadores. Os valores de CCI se mantiveram acima de 0,88 para a confiabilidade intraexaminadores e interexaminadores. Os escores apresentaram alta concordância, analisada por meio do teste de Bland Altman. EMIA apresentou adequada confiabilidade intra e interexaminadores para avaliação e acompanhamento de RNPT até 18 meses em ambulatório de seguimento de lactentes de risco.
RESUMEN La prematuridad es un factor de riesgo de retraso en el desarrollo motor de los lactantes y se recomienda la monitorización de ellos durante los dos primeros años de vida. Verificar la fiabilidad intraevaluadores e interevaluadores de la Escala Motora Infantil de Alberta (EMIA) en un seguimiento ambulatorio de recién nacidos de riesgo en una maternidad pública brasileña. Estudio prospectivo realizado en un seguimiento ambulatorio de recién nacidos de riesgo. Para evaluar el desarrollo motor, la EMIA fue empleada por dos evaluadores previamente capacitados. Se utilizó el coeficiente de correlación intraclase (CCI) para analizar la fiabilidad. Para comparar las evaluaciones intraevaluadores, se utilizó la prueba T pareada o la prueba de Wilcoxon. La prueba T independiente se utilizó para comparar las evaluaciones interevaluadores. La correlación entre las variables se analizó mediante la prueba de Pearson o Spearman. Para evaluar la concordancia entre los puntajes, se aplicó el análisis de Bland Altman. Se evaluaron a 31 recién nacidos pretérmino (RNPT) con un promedio de edad media corregida de 8,47 ± 4,49. No hubo diferencias significativas entre las evaluaciones intraevaluadores e interevaluadores. Los valores de CCI se mantuvieron por encima de 0,88 para la fiabilidad intraevaluadores e interevaluadores. Los puntajes mostraron un alto nivel de concordancia, que se analizó mediante el Bland Altman. La EMIA apuntó una adecuada fiabilidad intra e interevaluadores para evaluar y monitorear los RNPT hasta 18 meses en seguimiento ambulatorio de lactantes de riesgo.
ABSTRACT Prematurity is a risk factor for delayed motor development, and it is recommended to monitor these infants in the first two years of life. To verify the properties of intra and inter-examiner measurements of AIMS in an outpatient follow-up clinic for newborns at risk in a public maternity hospital. Prospective study conducted in an outpatient follow-up of high-risk newborns. The Intraclass Correlation Coefficient (ICC) was used to analyze reliability. To compare the intra-examiner evaluations, the paired T-test or Wilcoxon test was performed. The independent T-test was used to compare inter-examiner assessments. The correlation between variables was analyzed using the Pearson or Spearman test. The Bland Altman test was performed to assess the concordance between the scores. 31 preterm infants with 8,47 ± 4,49 of corrected age were evaluated. There was no significant difference between the evaluations intra and inter-examiner. The ICC values remained above 0.88 for both intra and inter-examiner evaluation. The scores showed high agreement. AIMS has intra- and inter-examiner reliability for assessing and monitoring preterm newborns for up to 18 months in a follow-up clinic.
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Aiming to determine their ancestry diagnostic potential, we selected two sets of nuclear deletion/insertion polymorphisms (DIPs), including 30 located on autosomal chromosomes and 33 on the X chromosome. We analysed over 200 unrelated Argentinean individuals living in urban areas of Argentina. As in most American countries, the extant Argentinean population is the result of tricontinental genetic admixture. The peopling process within the continent was characterised by mating bias involving Native American and enslaved African females and European males. Differential results were detected between autosomal DIPs and X-DIPs. The former showed that the European component was the largest (77.8%), followed by the Native American (17.9%) and African (4.2%) components, in good agreement with the previously published results. In contrast, X-DIPs showed that the European genetic contribution was also predominant but much smaller (52.9%) and considerably larger Native American and African contributions (39.6% and 7.5%, respectively). Genetic analysis revealed continental genetic contributions whose associated phenotypic traits have been mostly lost. The observed differences between the estimated continental genetic contribution proportions based on autosomal DIPs and X-DIPs reflect the effects of autosome and X-chromosome transmission behaviour and their different recombination patterns. This work shows the ability of the tested DIP panels to infer ancestry and confirm mating bias. To the best of our knowledge, this is the first study focusing on ancestry-informative autosomal DIP and X-DIP comparisons performed in a sample representing the entire Argentinean population.
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Cromossomos Humanos Y/genética , Etnicidade/genética , Polimorfismo Genético/genética , Argentina , População Negra/genética , Feminino , Genética Populacional/métodos , Humanos , Masculino , População Branca/genéticaRESUMO
RESUMEN Paciente canino, de raza maltés, género femenino, castrado, de 4 años y 5 Kg de peso. El motivo principal de consulta fue tos y dificultad respiratoria grave. Durante la evaluación clínica, el paciente presentó cianosis, estridor inspiratorio y espiratorio severo, tos en graznido especialmente después de un estímulo emocional. Se realizó una broncoscopia que reveló una disminución dinámica en el diámetro de la luz traqueal, un colapso severo en las porciones cervicales y torácicas. Debido a la gravedad del colapso traqueal, se decidió la implantación de un stent de nitinol. La elección del stent es fundamental y por tanto fue necesario realizar una medición del diámetro y la longitud de la tráquea para minimizar los efectos secundarios y los rechazos. La tráquea presentó variabilidad del diámetro a nivel torácico, razón por la cual se decidió utilizar un stent dual, el cual se colocó mediante observación directa a través de un broncoscopio pediátrico. Se presenta un caso en el que se usó un stent dual, indicado en casos en que el diámetro de la tráquea varía en su trayecto. Se obtuvieron excelentes resultados ya que se ajustó a los diferentes diámetros que presentó la tráquea en los niveles cervical y torácico.
ABSTRACT Canine patient, Maltese breed, female gender, castrated, 4 years old and 5 Kg of weight. The main reason for consultation was cough and severe respiratory distress. During the clinical evaluation, the patient presented cyanosis, severe inspiratory and expiratory stridor, squawking cough, especially after emotional stimulation. A bronchoscopy was performed that revealed a dynamic decrease in the diameter of the tracheal lumen, a severe collapse in the cervical and thoracic portions. Due to the severity of the tracheal collapse, the implantation of a nitinol stent was decided. The choice of stent is essential and therefore it was necessary to perform a measurement of the diameter and length of the trachea to minimize side effects and rejections. The trachea presented diameter variability at the thoracic level, which is why it was decided to use a dual stent, which was placed by direct observation through a pediatric bronchoscope. We present a case in which a dual stent was used, indicated in cases in which the diameter of the trachea varies along its path. Excellent results were obtained since it was adjusted to the different diameters that the trachea presented at the cervical and thoracic levels.
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Dispneia , CãesRESUMO
As cardiopatias congênitas são doenças que ocorrem do resultado de uma má-formação cardíaca no período embrionário, sendo denominadas congênitas por este motivo. Podem ser definidas por alterações estruturais no coração, em suas câmaras cardíacas e em seus vasos. Atualmente, as cardiopatias congênitas são as doenças congênitas mais frequentes entre os nascidos vivos. Em decorrência de suas alterações, ela pode causas atraso no desenvolvimento motor de seus portadores. O objetivo deste estudo foi avaliar o desenvolvimento motor de crianças cardiopatas de 03 à 18 anos no pré-operatório de cirurgia cardíaca da Fundação Pública Hospital de Clinicas Gaspar Vianna (FPHCGV). Fizeram parte da pesquisa 14 crianças de 03 a 18 meses de ambos os sexos, avaliadas quanto ao desenvolvimento motor por meio da Alberta Infant Motor Scale (AIMS). Na amostra houve um predomínio do sexo masculino 64,3% em relação a sexo feminino 35,7%. A raça predominante foi a Negra 42,7%, logo depois a raça Parda 35,8% e a raça Caucasiana (Branca) com 21,5%. As cardiopatias congênitas predominantes foram CIV com 35,7% e T4F com 35,7%, em seguida foi a CIA com 21,4%, o PCA com 14,3% e o DSA VT com 7,1%. Quando separadas em cianóticas e acianóticas, as acianóticas representaram 78,6%, enquanto que as cianóticas representam 32,4%. Os resultados encontrados na avaliação do percentil (TH) da escala AIMS na amostra estudada revelou que 28,6% apresentaram comportamento suspeito em relação ao desenvolvimento motor, 35,7% apresentaram comportamento limítrofe e 35,7% apresentaram desenvolvimento normal. Os resultados sugerem que crianças com cardiopatia congênita apresentam atraso no desenvolvimento motor, podendo ou não relacionar-se sua gravidade ao tipo de patologia
Las cardiopatías congénitas son patologías que ocurren del resultado de una malformación cardíaca en el período embrionario, siendo denominadas congénitas por este motivo. Pueden ser definidas por cambios estructurales en el corazón, en sus cámaras cardíacas y en sus vasos. Actualmente, Ias cardiopatías congénitas son Ias enfermedades congénitas más frecuentes entre Ios nacidos vivos. En consecuencia de sus cambios, puede causar retraso en el desarrollo motor de sus portadores. EI objetivo del estudio fue Evaluar el desarrollo motor de nifíos cardiópatas de 03 a 18 meses en el preoperatorio de cirugía cardíaca de Ia Fundación Pública Hospital de Clínicas Gaspar Vianna (FPHCGV). Se realizaron parte de Ia investigación 14 nifíos de 3 a 18 meses de ambos sexos, que fueron evaluados cuando al desarrollo motor a través de Ia Alberta lnfant Motor Scale (AIMS). En Ia muestra, hubo un predominio del sexo masculino 64,3% en relación ai sexo femenino 35,7%. La raza predominante fue Ia Niegra 42,7%, luego Ia raza Parda 35,8% y Ia raza Caucasiana (Blanca) con el 21,5%. Las cardiopatías congénitas predominantes fueron CIV con 35,7% y T4F con 35,7%, luego fue la ClA con 21,4%, el PCA con el 14,3% y el DSAVT con el 7,1%. Cuando separadas em Cianóticas y Acianóticas, Ias acianóticas representaron el 78,6%, mientras que Ias cianóticas representan eI 32,4%. Los resultados encontrados en Ia evaIuación deI percentiI (TH) de Ia escala AIMS en Ia muestra estudiada revelaron que 28,6% presentaron comportamento sospechoso en relación al desarrollo motor, 35,7% presentaron comportamiento Limítrofe y 35,7% presentaron desarrollo normal. Los resultados sugieren que Ios niííos con cardiopatia congénita presentan retraso en el desarrollo motor, pudiendo o no se relaciona su gravedad al tipo de patologia
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Masculino , Feminino , Humanos , Criança , Doenças Cardiovasculares , Cardiopatias , Cardiopatias Congênitas/diagnósticoRESUMO
Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case-control study performed using a genome-wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations. These SNP-AIMs were used to infer ancestry in systemic lupus erythematosus (SLE) patients (n = 23) and in healthy subjects (n = 110). Moderate population substructure was observed between SLE and control groups (Fst = 0.0113). Although patients and controls have shown a major European genomic contribution, significant differences in the European (P = 6.47 × 10-5 ) and African (P = 1.14 × 10-3 ) ancestries were detected between the two groups. We performed a two-step validation of the 345 SNP-AIMs panel estimating the ancestral contributions using a panel of 12 AIMs and approximately 70K SNPs from the array. Evaluation of population substructure in case-control studies, avoiding spurious genetic associations, can be performed using our panel of 345 SNP-AIMs.
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Genética Populacional , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único , População Negra/genética , Brasil , Estudos de Casos e Controles , Feminino , Genoma Humano , Humanos , Indígenas Sul-Americanos/genética , Lúpus Eritematoso Sistêmico/etnologia , Masculino , População Branca/genéticaRESUMO
ABSTRACT Objective. The reproductive biology of Liseta Leporinus muyscorum (Steindachner, 1901) in the Sinu river, Colombia, was studied. Materials and methods. Individuals were collected between March 2006 and February 2007, with lengths and weights ranging 20.5-41.0 (30.0 ± 3.7) cm of total length and 97.6-728.0 (320.9±117.9) g, respectively. The gonads were placed in Gilson solution, the Vazzoler scale was applicated and sexual proportion, sexual maturity index, spawning season, the length at first maturity, ovocites's diameter and fecundity were estimated. Results. 344 individuals were collected, of which 249 were females and 95 were males, with sexual proportion female: male of 2.6:1, different from expected. The length at first maturity was estimated in 28.9, 28.1 y 28.8 cm TL for females, males and combined sexes, respectively, ovocites's diameter was 977 µ and fecundity was estimated in 30793 oocytes. Conclusions. The Liseta is a fish with synchronous oocyte development in two groups, whose spawning season extends from February to September, with large oocytes and high fecundity, strongly associated with ovarian weight.
RESUMEN Objetivo . Se estudió la biología reproductiva de la Liseta Leporinus muyscorum (Steindachner, 1901) en el río Sinú, Colombia. Materiales y métodos. Los individuos fueron colectados entre marzo 2006 y febrero 2007, con tallas y pesos entre 20.5-41.0 (30.0±3.7) cm de longitud total y 97.6-728.0 (320.9±117.9) g, respectivamente. Las gónadas se conservaron en solución Gilson, se utilizó la escala de Vazzoler y se estimaron proporción sexual, índices de madurez sexual, época de desove, talla media de madurez sexual, diámetro de ovocitos y fecundidad. Resultados. Se colectaron 344 individuos, de los cuales 249 fueron hembras y 95 machos, con proporción sexual hembra: macho de 2.6:1, diferente a lo esperado. La talla media de madurez fue estimada en 28.9, 28.1 y 28.8 cm LT para hembras, machos y sexos combinados, respectivamente, el diámetro de los ovocitos fue 977 µ y la fecundidad promedio fue estimada en 30793 ovocitos. Conclusiones. La Liseta es un pez con desarrollo ovocitario sincrónico en dos grupos, cuya época o período de reproducción se extiende de febrero a septiembre, con ovocitos grandes y alta fecundidad, fuertemente asociada al peso de los ovarios.
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The population of Argentina has already been studied with regard to several genetic markers, but much more data are needed for the appropriate definition of its genetic profile. This study aimed at investigating the admixture patterns and genetic structure in Central Argentina, using biparental markers and comparing the results with those previously obtained by us with mitochondrial DNA (mtDNA) in the same samples. A total of 521 healthy unrelated individuals living in 13 villages of the Córdoba and San Luis provinces were tested. The individuals were genotyped for ten autosomal ancestry informative markers (AIMs). Allele frequencies were compared with those of African, European and Native American populations, chosen to represent parental contributions. The AIM estimates indicated a greater influence of the Native American ancestry as compared to previous studies in the same or other Argentinean regions, but smaller than that observed with the mtDNA tests. These differences can be explained, respectively, by different genetic contributions between rural and urban areas, and asymmetric gene flow occurred in the past. But a most unexpected finding was the marked interpopulation genetic homogeneity found in villages located in diverse geographic environments across a wide territory, suggesting considerable gene flow.
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El objetivo de este artículo es mostrar las diferentes formas clínicas en que se manifiestan las conductas suicidas, ponerlas en conexión con los diferentes trastornos mentales, mostrar los signos de alarma y discutir las posibles decisiones clínicas que se le ofrecen al terapeuta. La demanda terapéutica en relación con el suicidio está constituida por tres tipos de pacientes: a) aquellos que han sobrevivido a un intento de suicidio; b) los que acuden a la consulta manifestando ideación suicida; y c) los que tienen ideación suicida pero aún no la han expresado verbalmente. La alianza terapéutica empática con el paciente y la colaboración con la familia desempeñan un papel muy importante. Se señalan los objetivos terapéuticos en las diversas circunstancias y la necesidad de centrarse en el cambio de los factores modificables para contrarrestar el peso de los no modificables. Se indican algunas sugerencias para la investigación futura.
The aim of this paper is to show the different clinical forms in which suicidal behaviors manifest, put them in connection with various mental disorders, display warning signs, analyze risk and protective factors and discuss the possible clinical decisions that therapist can take. Relevant information about factors associated with completed and attempted suicide is discussed. Therapeutic demand regarding suicidal behaviors includes three types of patients: a) patients who have survived a suicide attempt; b) patients who seek treatment because of persistent thoughts of suicide; and c) patients with suicidal ideation but without having expressed it to anyone. The empathic therapeutic alliance with the patient and collaboration with family play a very important role. Therapeutic goals according to problems frequently encountered in the clinic, as well as the need to focus on changing modifiable factors to counteract the weight of non-modifiable factors, are commented. Suggestions for future research are outlined.
Assuntos
Humanos , Ideação Suicida , Tentativa de Suicídio/prevenção & controle , Tentativa de Suicídio/psicologia , Apoio Social , Autoimagem , Fatores Sexuais , Fatores Etários , Fatores de Risco , Suicídio/psicologia , Transtornos Mentais/psicologiaRESUMO
Ancestry informative markers (AIMs) can be useful to infer ancestry proportions of the donors of forensic evidence. The probability of success typing degraded samples, such as human skeletal remains, is strongly influenced by the DNA fragment lengths that can be amplified and the presence of PCR inhibitors. Several AIM panels are available amongst the many forensic marker sets developed for genotyping degraded DNA. Using a 46 AIM Insertion Deletion (Indel) multiplex, we analyzed human skeletal remains of post mortem time ranging from 35 to 60 years from four different continents (Sub-Saharan Africa, South and Central America, East Asia and Europe) to ascertain the genetic ancestry components. Samples belonging to non-admixed individuals could be assigned to their corresponding continental group. For the remaining samples with admixed ancestry, it was possible to estimate the proportion of co-ancestry components from the four reference population groups. The 46 AIM Indel set was informative enough to efficiently estimate the proportion of ancestry even in samples yielding partial profiles, a frequent occurrence when analyzing inhibited and/or degraded DNA extracts.
Assuntos
Osso e Ossos/química , DNA/genética , DNA/isolamento & purificação , Genética Forense/métodos , Genética Forense/organização & administração , Mutação INDEL , Grupos Raciais/genética , DNA/análise , Frequência do Gene/genética , Marcadores Genéticos , Genética Populacional , Técnicas de Genotipagem , Humanos , Reação em Cadeia da Polimerase Multiplex/métodosRESUMO
The early years of life are of essential importance for child development and growth. The child's development in a social vulnerability and unfavorable life condition can be injured, and that early detection of disorders is fundamental for healthy development. PURPOSE: To assessment the Alberta Infant Motor Scale as an assessment tool to identify early of disorders in infants until 18 months. METHODS: This is an observational, cross-sectional study undertaken in "educational program for the growth and development promotion" at the health unit administered by reference hospital of Health Public System, in Paraisópolis community, São Paulo. The sample (n=71) was composed for infants less than 18 months of age, eutrophic, low biological risk at birth; singleton, full-term births, weight at birth between 2,000g e" and d" 4,500g and no associated congenital neurological, cardiac or orthopedic pathologies at the clinical exam. RESULTS: This study presented the greatest prevalence of delay motor neuromotor when compared with the AIMS reference population. First, 8.5% of the breastfeeding infants are classified as being mdA and 7.0% are classified as dmS and secondly that, although the category mdT contains 84.5% of the children, the median of the z-score has shifted from the central point of the normal standardized distribution, only 33.7% of the children, i.e., 24 in 71, being equal to or above Z=0 (p<0.05). CONCLUSION: The use of AIMS was efficient, practice, low cost and quick applies. Plus a quick view of motor milestone presents by infant. Features that became possible take decision by health team...(AU)
Os primeiros anos de vida são de importância essencial para o desenvolvimento infantil. O desenvolvimento neurosensoriomotor de crianças, vivendo em condição de pobreza, pode ser prejudicado, sendo a detecção precoce de anormalidades essencial para um desenvolvimento saudável. OBJETIVO: Avaliar o uso da AIMS como instrumento de avaliação para detecção precoce de anormalidades. MÉTODO: Trata-se de um estudo descritivo, do tipo transversal, realizado com lactentes brasileiros matriculados no "Programa educativo de promoção do crescimento e desenvolvimento", do ambulatório de uma unidade de saúde gerenciada por um Hospital de referência do Sistema Público de Saúde, na Comunidade de Paraisópolis, São Paulo. A amostra (n = 71) foi composta por lactentes menores de 18 meses, eutróficos, de baixo risco biológico ao nascimento, nascidos de parto único, termo, peso ao nascer entre 2.000g e 4.500g, sem associação com patologias congênitas neurológicas, cardíacas ou ortopédicas no exame clinico. RESULTADOS: Este estudo apresenta prevalência de atraso motor quando comparado com a população de referencia da AIMS. Primeiro, 8,5% dos lactentes foram classificados como mdA e 7% como dmS, além da categoria mdT conter 84,5% dos lactentes, a media do escore Z tem modificado o ponto central da distribuição padronizada, apenas 33,7% do grupo, isto e, 24 em 71, estão igual ou acima do Z = 0 (p < 0.05). CONCLUSÃO: A utilização da AIMS neste estudo foi eficiente na avaliação do desenvolvimento motor, prática, de baixo custo e rápida aplicação. Forneceu rápida visualização da posição do lactente. Característica que permite tomada de decisões oportunas pelos profissionais que integram as equipes de saúde...(AU)
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Humanos , Masculino , Feminino , Lactente , Lactente , Desenvolvimento Infantil , Desempenho Psicomotor , Pobreza , Vulnerabilidade Social , Aleitamento Materno , Condições Sociais , Estudos TransversaisRESUMO
The early years of life are of essential importance for child development and growth. The child's development in a social vulnerability and unfavorable life condition can be injured, and that early detection of disorders is fundamental for healthy development. PURPOSE: To assessment the Alberta Infant Motor Scale as an assessment tool to identify early of disorders in infants until 18 months. METHODS: This is an observational, cross-sectional study undertaken in "educational program for the growth and development promotion" at the health unit administered by reference hospital of Health Public System, in Paraisópolis community, São Paulo. The sample (n=71) was composed for infants less than 18 months of age, eutrophic, low biological risk at birth; singleton, full-term births, weight at birth between 2,000g e" and d" 4,500g and no associated congenital neurological, cardiac or orthopedic pathologies at the clinical exam. RESULTS: This study presented the greatest prevalence of delay motor neuromotor when compared with the AIMS reference population. First, 8.5% of the breastfeeding infants are classified as being mdA and 7.0% are classified as dmS and secondly that, although the category mdT contains 84.5% of the children, the median of the z-score has shifted from the central point of the normal standardized distribution, only 33.7% of the children, i.e., 24 in 71, being equal to or above Z=0 (p<0.05). CONCLUSION: The use of AIMS was efficient, practice, low cost and quick applies. Plus a quick view of motor milestone presents by infant. Features that became possible take decision by health team...
Os primeiros anos de vida são de importância essencial para o desenvolvimento infantil. O desenvolvimento neurosensoriomotor de crianças, vivendo em condição de pobreza, pode ser prejudicado, sendo a detecção precoce de anormalidades essencial para um desenvolvimento saudável. OBJETIVO: Avaliar o uso da AIMS como instrumento de avaliação para detecção precoce de anormalidades. MÉTODO: Trata-se de um estudo descritivo, do tipo transversal, realizado com lactentes brasileiros matriculados no "Programa educativo de promoção do crescimento e desenvolvimento", do ambulatório de uma unidade de saúde gerenciada por um Hospital de referência do Sistema Público de Saúde, na Comunidade de Paraisópolis, São Paulo. A amostra (n = 71) foi composta por lactentes menores de 18 meses, eutróficos, de baixo risco biológico ao nascimento, nascidos de parto único, termo, peso ao nascer entre 2.000g e 4.500g, sem associação com patologias congênitas neurológicas, cardíacas ou ortopédicas no exame clinico. RESULTADOS: Este estudo apresenta prevalência de atraso motor quando comparado com a população de referencia da AIMS. Primeiro, 8,5% dos lactentes foram classificados como mdA e 7% como dmS, além da categoria mdT conter 84,5% dos lactentes, a media do escore Z tem modificado o ponto central da distribuição padronizada, apenas 33,7% do grupo, isto e, 24 em 71, estão igual ou acima do Z = 0 (p < 0.05). CONCLUSÃO: A utilização da AIMS neste estudo foi eficiente na avaliação do desenvolvimento motor, prática, de baixo custo e rápida aplicação. Forneceu rápida visualização da posição do lactente. Característica que permite tomada de decisões oportunas pelos profissionais que integram as equipes de saúde...
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Humanos , Masculino , Feminino , Lactente , Aleitamento Materno , Desenvolvimento Infantil , Lactente , Pobreza , Desempenho Psicomotor , Condições Sociais , Vulnerabilidade Social , Estudos TransversaisRESUMO
We have genotyped 46 Ancestry Informative Markers (AIMs) in two of the most populated areas in Bolivia, namely, La Paz (Andean region; n=105), and Chuquisaca (Sub-Andean region; n=73). Using different analytical tools, we inferred admixture proportions of these two American communities by comparing the genetic profiles with those publicly available from the CEPH (Centre d'Etude du Polymorphisme Humain) panel representing three main continental groups (Africa, Europe, and America). By way of simulations, we first evaluated the minimum sample size needed in order to obtain accurate estimates of ancestry proportions. The results indicated that sample sizes above 30 individuals could be large enough to estimate main continental ancestry proportions using the 46 AIMs panel. With the exception of a few individuals, the results also indicated that Bolivians showed a predominantly Native American ancestry with variable levels of European admixture. The proportions of ancestry were statistically different in La Paz and Chuquisaca: the Native American component was 86% and 77% (Mann-Whitney U-test: un-adjusted P-value=2.1×10(-5)), while the European ancestry was 13% and 21% (Mann-Whitney U-test: un-adjusted P-value=3.6×10(-5)), respectively. The African ancestry in Bolivians captured by the AIMs analyzed in the present study was below 2%. The inferred ancestry of Bolivians fits well with previous studies undertaken on haplotype data, indicating a major proportion of Native American lineages. The genetic differences observed in these two groups suggest that forensic genetic analysis should be better performed based on local databases built in the main Bolivian areas.
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Indígenas Sul-Americanos/genética , População Branca/genética , População Negra/genética , Bolívia , Simulação por Computador , Impressões Digitais de DNA , Etnicidade/genética , Genética Forense/métodos , Genética Forense/estatística & dados numéricos , Genética Populacional , Humanos , Análise de Componente PrincipalRESUMO
OBJECTIVES: To describe the clinical courses of positional preference and deformational plagiocephaly up to 6 months corrected age (CA) in infants born at gestational age <30 weeks or birth weight <1000 g, and to explore predictive factors for the persistence of these phenomena. STUDY DESIGN: A total of 120 infants were examined 3 times each. The presence of deformational plagiocephaly and a score of 0-6 on an asymmetry performance scale served as outcome measures at 6 months CA. Predictive factors were determined using regression analysis. RESULTS: The prevalence of a positional preference of the head was 65.8% (79 of 120) at term-equivalent age (TEA) and 36.7% (44 of 120) at 3 months CA and that of deformational plagiocephaly was 30% (36 of 120) at TEA and 50% (60 of 120) at 3 months CA. At 6 months CA, 15.8% of the infants (19 of 120) scored ≥ 2 of a possible 6 on the asymmetry performance scale and 23.3% (28 of 120) had deformational plagiocephaly. Sleeping in the supine position was predictive of an asymmetric motor performance at 6 months CA. Chronic lung disease and/or slow gross motor maturation at 3 months CA predicted the persistence of deformational plagiocephaly. CONCLUSION: Infants born very preterm may develop deformational plagiocephaly. A positional preference of the head at TEA seems to be a normal aspect of these infants' motor repertoire, with limited ability to predict persistence of an asymmetric motor performance. The decreased prevalence of deformational plagiocephaly between 3 and 6 months CA indicates an optimistic course. Infants with a history of chronic lung disease and/or slow gross motor maturation merit timely intervention.