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1.
Medicentro (Villa Clara) ; 24(3): 476-490, jul.-set. 2020. tab
Artigo em Espanhol | LILACS | ID: biblio-1125011

RESUMO

RESUMEN Introducción: diferentes manifestaciones de la composición corporal de las gestantes pueden ser indicativos de adiposidad abdominal. Dichos indicativos integran el cortejo del fenotipo normopeso obeso, y constituyen factores importantes que se deben tener en cuenta para la pesquisa y detección temprana de riesgos o alteraciones metabólicas en las gestantes de peso adecuado. Objetivo: identificar la presencia de fenotipos en gestantes sanas de peso adecuado a través de variables de adiposidad. Métodos: se realizó un estudio analítico-longitudinal-prospectivo en 326 gestantes sanas de peso adecuado (IMC 18,5-24,9), las cuales asistieron a la consulta de nutrición de estas áreas de salud: Policlínico Universitario «Chiqui Gómez Lubián¼, Policlínico Universitario «XX Aniversario¼ y Policlínico Universitario «Capitán Roberto Fleites¼, todos del municipio de Santa Clara. El estudio se realizó en el período comprendido de octubre 2016 a octubre 2017; la muestra seleccionada fue de 201 gestantes. Se estudiaron variables antropométricas y su posible agrupación según afinidad. Resultados: la variable suma de pliegues subescapular y tricipital alcanzó sus valores más altos, en relación al resto de las variables de adiposidad que participaron en la formación de los conglomerados. Conclusiones: las posibles alteraciones metabólicas en las gestantes sanas se pueden prever a través de la determinación de agrupaciones por afinidad de sus variables de adiposidad. Esto puede influir significativamente en la condición trófica de los recién nacidos.


ABSTRACT Introduction: different manifestations of body composition in pregnant women can be indicative of abdominal adiposity. These indicators are part of the metabolically- obese normal-weight phenotype, and are important factors that must be taken into account for the screening and early detection of risks or metabolic alterations in normal- weight pregnant women. Objective: to identify the presence of phenotypes in healthy normal-weight pregnant women through adiposity variables. Methods: an analytical, longitudinal, prospective study was conducted on 326 healthy normal-weight pregnant women (BMI 18.5-24.9), who came to the nutrition consultation of these health areas: "Chiqui Gómez Lubián" University Polyclinic, "XX Aniversario" University Polyclinic and "Capitán Roberto Fleites" University Polyclinic, all belonging to Santa Clara municipality. The study was conducted from October 2016 to October 2017 and the selected sample was 201 pregnant women. Anthropometric variables and their possible grouping according to affinity were studied. Results: the sum variable of the tricipital and subscapular skinfolds reached its highest values, in relation to the rest of the adiposity variables that participated in the formation of the conglomerates. Conclusions: the possible metabolic alterations in healthy pregnant women can be foreseen through the determination of groupings according to the affinity of their adiposity variables. This can significantly influence the trophic condition of newborns.


Assuntos
Fenótipo , Composição Corporal , Adiposidade
2.
Acta bioquím. clín. latinoam ; 54(3): 309-320, set. 2020. ilus, graf, tab
Artigo em Espanhol | LILACS | ID: biblio-1130605

RESUMO

En los últimos años se ha determinado que los neutrófilos son células altamente versátiles y sofisticadas, cuyas funciones van mucho más allá de la eliminación de los microorganismos. En la infección con el Virus de Inmunodeficiencia Humana (HIV), si bien el papel de los neutrófilos no está totalmente caracterizado, actualmente está claro que la relación entre los neutrófilos y el virus es mucho más compleja de lo que se pensaba. Los objetivos de este trabajo fueron evaluar en pacientes con infección asintomática, y sin tratamiento antirretroviral, el efecto de la infección por el HIV sobre la muerte celular de los neutrófilos y la expresión de receptores de superficie. En pacientes seropositivos sin tratamiento hubo un aumento de la apoptosis temprana de los neutrófilos en relación a los grupos controles. Esta apoptosis aumentada no depende de la activación de la vía extrínseca o intrínseca. En estos pacientes hubo un aumento de la expresión de TLR2 que, unido al aumento de la apoptosis temprana, podría ser indicativo de un fenotipo activado de los neutrófilos. En conclusión, este trabajo aporta información sobre aspectos relacionados con la apoptosis de los neutrófilos en estadios tempranos de la infección por HIV, contribuyendo así a una mayor comprensión acerca del efecto de este virus sobre componentes de la respuesta inmune innata.


In recent years it has been determined that neutrophils are highly versatile and sophisticated cells whose functions go far beyond the elimination of microorganisms. In Human Immunodeficiency Virus (HIV) infection, the role of neutrophils is not fully characterized but it is now clear that the relationship between neutrophils and HIV is much more complex than previously thought. The aims of this study were to evaluate the effect of HIV infection on neutrophil cell death and the expression of surface molecules on neutrophils in patients with asymptomatic infection and without antiretroviral treatment (ART). In HIV seropositive patients without antiretroviral therapy there was an increase in the early apoptosis of neutrophils in relation to the control groups. This increased apoptosis does not depend on the activation of the extrinsic or intrinsic pathway. In these patients there was an increase in the expression of TLR2 which, together with the increase of early apoptosis, could be indicative of an activated phenotype of neutrophils. In conclusion, this study provides information on aspects related to the apoptosis of neutrophils in early stages of HIV infection and therefore contributes to a better understanding of the effect of this virus on components of the innate immune response.


Nos últimos anos, determinou-se que os neutrófilos são células altamente versáteis e sofisticadas, cujas funções vão muito além da eliminação dos microrganismos. Na infecção pelo HIV, embora o papel dos neutrófilos não esteja totalmente caracterizado, atualmente fica bem claro que a relação entre os neutrófilos e o vírus é muito mais complexa do que se pensava anteriormente. Os objetivos deste trabalho foram avaliar em pacientes com infecção assintomática, e sem tratamento antirretroviral, o efeito da infecção pelo HIV na morte celular dos neutrófilos e a expressão de receptores de superfície. Nos pacientes soropositivos sem tratamento, houve um aumento da apoptose precoce dos neutrófilos em relação aos grupos controle.Esta apoptose aumentada não depende da ativação da via extrínseca ou intrínseca. Nestes pacientes, houve um aumento da expressão de TLR2 que, juntamente com o aumento da apoptose precoce, poderia ser indicativo de um fenótipo ativado dos neutrófilos. Em conclusão, este trabalho fornece informações sobre aspectos relacionados com a apoptose dos neutrófilos em estágios precoces da infecção pelo HIV, contribuindo desse modo para uma maior compreensão sobre o efeito deste vírus nos componentes da resposta imune inata.


Assuntos
Humanos , Masculino , Feminino , Fenótipo , Vírus , Infecções por HIV , HIV , Imunidade Inata , Neutrófilos , Papel (figurativo) , Terapêutica , Anticorpos Anti-HIV/genética , Morte Celular , Apoptose , Antirretrovirais , Receptor 2 Toll-Like , Infecções Assintomáticas
3.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1093-1101, July-Aug. 2020. tab
Artigo em Português | LILACS, VETINDEX | ID: biblio-1131520

RESUMO

A relação da eficiência nutricional com a idade e o peso à puberdade e as características reprodutivas foram estudadas em 35 novilhas F1 Holandês x Gir, em ensaios usando o consumo alimentar residual (CAR) nos períodos pós-desaleitamento (PD) e pós-puberdade (PP). Novilhas PD (P<0,0001) e PP (P<0,001) foram ranqueadas como de alta, intermediária e baixa eficiências e apresentaram CAR de -0,259 -0,014 e 0,346kg/dia e -0,848 -0,096 e 0,842kg/dia, respectivamente. Novilhas PD diferiram (P<0,05) na idade à puberdade entre ranques de alta, intermediária e baixa eficiências, em média, aos 339,7; 346,4; 315,3 dias, respectivamente. Os pesos à puberdade de novilhas PD com alta, intermediária e baixa eficiências foram, em média, de 321±28,1kg e não diferiram (P>0,05) entre CAR. Não foi verificada correlação entre diâmetro folicular, taxa de crescimento do folículo, número de ondas foliculares no ciclo estral e taxa de gestação à primeira IA com o CARPD ou CARPP. Novilhas F1HG selecionadas para CAR com baixa eficiência podem ter idade à puberdade 10 dias a mais, quando comparadas às novilhas de alta eficiência para CAR. Não foi verificado que novilhas selecionadas para alta ou baixa eficiências alimentares, usando CAR, tivessem algum impacto negativo sobre características reprodutivas avaliadas.(AU)


The relationship between nutritional efficiency and age and weight at puberty and reproductive traits was studied in 35 F1 Holstein x Gyr heifers, in trials using residual food consumption (CAR) in the post-weaning (PW) and post-pubertal (PP) periods. PD heifers (P<0.0001) and PP (P<0.001) were classified as high, intermediate and low efficiencies and presented CAR of -0.259 -0.014 and 0.346kg/day and -0.848 -0.096 and 0.842kg/day, respectively. PD heifers differed (P<0.05) in age at puberty between high, intermediate and low efficiencies, on average, at 339.7, 346.4 and 315.3 days, respectively. The weight at puberty of PD heifers with high, intermediate and low efficiencies were, on average, 321±28.1kg and did not differ (P>0.05) between CAR. No correlation was found between follicular diameter, follicle growth rate, number of follicular waves in the estrous cycle and pregnancy rate at 1st AI with the CARPD or CARPP. F1HG heifers selected for CAR with low efficiency can be aged at puberty 10 days longer when compared to high-efficiency heifers for CAR. These results did not show that heifers selected for high or low food efficiency, using CAR, had negative impact on the reproductive characteristics evaluated.(AU)


Assuntos
Animais , Feminino , Bovinos , Fenótipo , Ganho de Peso , Ciclo Estral , Comportamento Alimentar , Pesos e Medidas Corporais/veterinária , Taxa de Gravidez
4.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1433-1440, July-Aug. 2020. tab, ilus
Artigo em Português | LILACS, VETINDEX | ID: biblio-1131475

RESUMO

O objetivo do presente estudo foi analisar a dissimilaridade fenotípica de amostras populacionais de três linhagens de éguas Crioulas, uruguaia (La Invernada), argentina (Cardal) e chilena, para caracteres morfológicos, apontando as características de maior variância intra e entre as diferentes linhagens que são passíveis de seleção. Foram avaliadas 22 características morfológicas de 113 éguas da linhagem uruguaia "La Invernada", 38 argentinas "Cardal" e 73 chilenas puras, totalizando 224 éguas de cria pertencentes à raça Crioula. Para determinação das variáveis lineares e de perímetro, foi utilizada fita métrica, prumo, paquímetro e hipômetro. Verificou-se variabilidade nas características morfológicas entre as três linhagens (P<0,05), incluindo as características lineares altura, perímetro de tórax e perímetro de canela (P<0,01), consideradas de caráter impositivo para fins de registro. Maior variação fenotípica foi observada nas éguas da linhagem chilena em relação aos outros dois grupos genéticos (P<0,01). As características morfológicas altura garupa, perímetro rostral pescoço, comprimento metatarso, largura garupa, profundidade do tórax, comprimento dorsal pescoço e comprimento do corpo foram passíveis de seleção entre as éguas Crioulas pertencentes às linhagens argentina (Cardal), uruguaia (La Invernada) e chilena. Em conclusão, não há homogeneidade entre as linhagens estudadas, o que identifica a diversidade entre as linhagens de éguas Crioulas estudadas.(AU)


The aim of the study was to analyze the phenotypic dissimilarity of morphological characteristics of three strains of Criollo mares, Uruguian (La Invernada), Argentine (Cardal), and Chilena, pointing to the characteristics of higher variance within and among the different strains that are selectable. We evaluated 22 morphological characteristics of 113 mares of the Uruguaian line, 38 Argentines and 73 pure Chilean, totaling 224 breeding mares belonging to the criollo breed. For the determination of the linear and perimeter variables, a metric tape, plumb, pachymeter and hypometer were used. There was variability in the morphological characteristics between the three strains (P<0.05), including the linear characteristics of height, chest circumference and perimeter of cinnamon (P<0.01), considered as taxation for registration purposes. Higher phenotypic variation was observed in the mares of the Chilean line in relation to the other two genetic groups (P<0.01). The morphological characteristics of height croup, rostral perimeter neck, metatarsal length, croup width, chest depth, dorsal neck length, and body length were the selectable characteristics among the breeding mares belonging to the Argentine (Cardal), Uruguaian (La Invernada) and Chilena strains. In conclusion, there is no homogeneity between the studied strains, which identifies the diversity among the lines of Criollo mares studied.(AU)


Assuntos
Animais , Feminino , Fenótipo , Pesos e Medidas Corporais/veterinária , Cavalos/anatomia & histologia , Cavalos/genética
5.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1458-1468, July-Aug. 2020. tab, ilus
Artigo em Português | LILACS, VETINDEX | ID: biblio-1131474

RESUMO

Caracterizaram-se fêmeas F1 Holandês x Zebu de diferentes bases maternas quanto às pelagens, despigmentações e características morfométricas. Foram utilizadas 266 fêmeas F1, progênies do cruzamento de 26 touros da raça Holandesa com fêmeas de composição genética zebuínas: Gir, Nelore, Guzonel, Nelogir. Foram aplicadas análise de distribuição de frequência para características qualitativas e medidas de dispersão e tendência central para características morfométricas, e as médias foram comparadas pelo teste de Tukey a 5% de probabilidade. Acima de 60,0% dos animais foram de pelagem preta. As vacas que tiveram origem na raça Gir apresentaram comprimento de cabeça 2,8cm maior (P<0,05) que as fêmeas da raça Nelore. O comprimento da orelha variou (P<0,05) conforme a base materna utilizada. As vacas com genes da raça Nelore são 5,0cm mais altas (P<0,05). O perímetro torácico foi a característica morfométrica que teve correlação fenotípica de elevada magnitude com o peso, acima de 0,70, para as fêmeas das bases maternas Gir, Nelore e Nelogir. A pelagem não é indicativa da base materna utilizada. As vacas F1 de base materna Gir tiveram estrutura corporal menor que as fêmeas que portam genes da raça Nelore.(AU)


F1 Holstein x Zebu females from different maternal bases were characterized regarding coat, depigmentation and morphometric characteristics. A total of 266 F1 female progenies from the crossbreeding of 26 Holstein bulls with females of Zebu genetic composition were used: Gir, Nellore, Guzonel, Nellogir. Frequency distribution analysis was applied for qualitative characteristics and dispersion measures and central tendency for morphometric characteristics, and means were compared by Tukey test at 5% probability. Over 60.0% of the animals had a black coat. The cows that originated from the Gir breed had a head length of 2.8cm (P<0.05) higher than the Nellore females. Ear length varied (P<0.05) according to the maternal base used. Cows with Nelore genes were 5.0cm taller (P<0.05). The thoracic perimeter was the morphometric characteristic that had a high magnitude phenotypic correlation with weight, above 0.70, for the females of the Gir, Nellore and Nellogir maternal bases. The coat is not indicative of the maternal base used. F1 Gir-based cows had a smaller body structure than females with Nellore genes.(AU)


Assuntos
Animais , Feminino , Bovinos , Fenótipo , Pesos e Medidas Corporais/veterinária , Pigmentação da Pele/genética , Cruzamentos Genéticos , Hereditariedade/genética
6.
Rev. Hosp. Ital. B. Aires (2004) ; 40(2): 53-55, jun. 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1102484

RESUMO

Una de las características de la afección pulmonar por enfermedad por coronavirus (COVID-19) es la disociación entre la gravedad de la hipoxemia y el mantenimiento de una mecánica respiratoria relativamente conservada. En este contexto se ha establecido una teoría en relación con dos fenotipos de pacientes con síndrome de distrés respiratorio del adulto (SDRA): un fenotipo Low, caracterizado por baja elastancia y baja reclutabilidad, y un fenotipo High, con características de alta elastancia y alta reclutabilidad. Presentamos el caso de un paciente que cursó internación en la Unidad de Terapia Intensiva de Adultos de nuestro hospital, con clínica, mecánica ventilatoria y patrón tomográfico compatible con el fenotipo Low de SDRA por COVID-19. (AU)


Dissociation between severity of hypoxemia and relative preserved respiratory mechanics is a characteristic observed in lung impairment due to coronavirus disease (COVID-19). Patients with COVID-19 that present adult respiratory distress syndrome (ARDS) are identified for one of two phenotypes according to a theory recently established. The Low phenotype is distinguished by low elastance and low recruitability; and the High phenotype, by high elastance and high recruitability. The case describes a patient admitted in the adult Intensive Care Unit of Hospital Italiano de Buenos Aires with observed symptoms, ventilatory mechanics and tomographic pattern that are compatible with Low phenotype of ARDS due to COVID-19. (AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Síndrome do Desconforto Respiratório do Adulto/microbiologia , Infecções por Coronavirus/terapia , Fenótipo , Síndrome do Desconforto Respiratório do Adulto/genética , Mecânica Respiratória , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/fisiopatologia , Tosse/etiologia , Dispneia/etiologia , Febre/etiologia , Hipertensão/complicações , Unidades de Terapia Intensiva , Hipóxia/fisiopatologia , Obesidade/complicações
7.
Arch. argent. pediatr ; 118(3): e258-e264, jun. 2020. tab, ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1116915

RESUMO

El síndrome de Silver-Russell se caracteriza por retraso del crecimiento intrauterino asimétrico, con circunferencia craneal normal, barbilla pequeña y puntiaguda, que proporciona un aspecto de rostro triangular. Puede, además, presentar asimetría corporal, entre otros. Tiene una incidencia mundial estimada de 1 en 30 000-100 000 nacimientos, aunque este número es, probablemente, subestimado. En alrededor del 60 % de los casos, se puede identificar una causa molecular y la principal es la hipometilación del alelo paterno en la región de control de impresión 1 localizado en 11p15.5-p15.4. Realizar el diagnóstico de esta entidad, excluir los diagnósticos diferenciales y conocer las correlaciones (epi)genotipo-fenotipo son necesarios para realizar el adecuado seguimiento, brindar las opciones terapéuticas disponibles y el oportuno asesoramiento genético familiar. El objetivo del presente artículo es mostrar el estado actual del síndrome de Silver-Russell, un ejemplo de trastorno de impronta genómica.


Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder.


Assuntos
Humanos , Masculino , Feminino , Síndrome de Silver-Russell/fisiopatologia , Fenótipo , Impressão Genômica , Diagnóstico Diferencial , Síndrome de Silver-Russell/diagnóstico , Síndrome de Silver-Russell/terapia , Retardo do Crescimento Fetal , Aconselhamento Genético , Genótipo
8.
Arq. bras. med. vet. zootec. (Online) ; 72(3): 947-954, May-June, 2020. tab, graf
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1129662

RESUMO

The objective of this study was to determine factors affecting phenotypic characteristics related to milk production and reproductive efficiency of dairy buffalo. Phenotypic records of 2,459 Murrah, Mediterranean and crossbred buffaloes from the Embrapa Eastern Amazônia herd, from 1969 to 2013 were used. Traits included: total milk production during lactation (TMP), milk production corrected for 305 days (P305); cow weight at calving (CW), fat milk percentage (F), age at first calving (AFC), calving interval (CI), calf birth weight (BW), as well as lactation (LP) and service periods (SP). Most traits were affected by genetic group as well as year and season or interaction between them. Genetic group affected F, CI, SP and CW. Very young and older cows showed poorer production traits. There was interaction between season and year for F, CI and CW. Correlations traits were generally medium to low. The principal component analysis showed that higher fat milk percentage was associated with higher percentage of Murrah breed, longer lactation period and older cows. Phenotypic characteristics in buffaloes reared in the Brazilian Amazon were significantly affected by genetic and management factors. This information can be used to help build sustainable production systems for the region and guide farmer decisions.(AU)


O objetivo deste estudo foi determinar os fatores que afetam as características fenotípicas relacionadas à produção de leite e a eficiência reprodutiva de búfalas leiteiras. Foram utilizados os registros fenotípicos de 2.459 búfalas das raças Murrah, Mediterrâneo e seus cruzamentos do rebanho da Embrapa Amazônia Oriental, de 1969 a 2013. As características incluídas foram: produção total de leite durante a lactação (PTL), produção de leite corrigida para 305 dias (P305), peso da búfala ao parto (PV), percentual de gordura do leite (G), idade ao primeiro parto (IPP), intervalo entre partos (IP), peso do bezerro ao nascimento (PN), assim como os períodos de lactação (PL) e de serviço (PS). A maioria das características foi afetada pelo grupo genético, bem como pelo ano e pela estação ou pela interação entre eles. O grupo genético afetou o G, IP, PS e PV. Búfalas muito jovens e mais velhas mostraram características de produção mais baixas. Houve interação entre estação e o ano para G, IP e PV. As correlações entre as características foram geralmente de médias a baixas. A análise de componentes principais mostrou que a maior porcentagem de gordura no leite foi associada com a maior porcentagem de sangue Murrah, com o maior período de lactação e com búfalas mais velhas. As características fenotípicas das búfalas criadas na Amazônia brasileira foram significativamente afetadas por fatores genéticos e de manejo. Essas informações podem ser usadas para ajudar a construir sistemas de produção sustentáveis para a região e orientar as decisões dos produtores.(AU)


Assuntos
Animais , Feminino , Fenótipo , Búfalos/genética , Leite
9.
Rev. bras. ortop ; 55(2): 131-138, Mar.-Apr. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1138015

RESUMO

Abstract Disc degeneration is a condition that compromises the intervertebral disc functions, which can lead to several important pathological processes, such as disc herniation and canal stenosis. Although its etiology is still unknown, more and more studies have demonstrated the preponderant role of genetic factors to the detriment of environmental factors. Aiming to review the current knowledge about the genes associated with intervertebral disc degeneration, we have performed a narrative review based on the medical literature in the English language from the last 10 years regarding this subject. We have concluded that several genes have been associated with disc degeneration in humans, including the genes for collagen I α-1 (COL1A1), collagen IX (COL9A2 and COL9A3), collagen XI (COL11A2), interleukin 6 (IL-6), aggrecan (AGC1), vitamin D receptor (VDR), and matrix metalloproteinase 3 (MMP-3), in addition to microRNAs. Therefore, the present review emphasizes the latest advancements in the association of genes with specific phenotypes of degenerated discs, single-nucleotide polymorphisms, heritage and genetic-environmental interactions in relation to disc degeneration to help future reviews regarding the genetic mechanisms underlying these processes.


Resumo A degeneração discal é uma condição que compromete as funções do disco intervertebral, podendo levar a vários processos patológicos importantes, como hérnias discais e estenoses de canal. Apesar de sua etiologia ainda ser desconhecida, cada vez mais estudos têm demonstrado o papel preponderante de fatores genéticos em detrimento de fatores ambientais. Com o objetivo de revisar o conhecimento atual sobre os genes associados à degeneração do disco intervertebral, foi realizada uma revisão narrativa da literatura inglesa nos últimos 10 anos sobre o tema. Concluímos que há uma série de genes que foram associados à degeneração discal em seres humanos, incluindo genes codificando colágeno I α-1 (COL1A1), colágeno IX (COL9A2 e COL9A3), colágeno XI (COL11A2), interleucina 6 (IL-6), agrecano (AGC1), receptor de vitamina D (VDR), metaloproteinase de matriz 3 (MMP-3), além de microRNAs. Dessa forma, a presente revisão enfatiza os últimos avanços na associação de genes com fenótipos de discos degenerados específicos, polimorfismos de nucleotídeos únicos, hereditariedade e interações genético-ambientais em relação à degeneração discal, com o intuito de permitir ao clínico entender esse mecanismo de degeneração e estar preparado para as novas terapêuticas que estão por vir baseadas na genética.


Assuntos
Fenótipo , Polimorfismo Genético , Hereditariedade , Degeneração do Disco Intervertebral , Previsões , Genes , Disco Intervertebral , Nucleotídeos
10.
Braz. j. biol ; 80(1): 142-146, Feb. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1089280

RESUMO

Abstract The objective of this study was to investigate genetic variances and covariances among features of the male Japanese quail advertisement call. Duration of the first, second and third syllable, the length of interval 1 (between the first and the second syllable), interval 2 (between the second and the third syllable) and damping (extension of the third syllable) were measured as temporal properties of the call. Spectral properties were peak frequencies of each syllable and the damping component. In this study, 1730 calls were recorded from 488 male Japanese quail. The restricted maximum likelihood procedure for repeated measurements was applied to estimate (co)variance components and genetic parameters for the examined traits. Heritability estimates of call parameters of the male Japanese quail ranged from low to high values (0.04-0.65) and they were generally higher for temporal properties than for spectral properties. Among the temporal properties of the call, the highest genetic correlation was between the first and the second syllable (0.96±0.251) while the lowest genetic correlation was between the first and the third syllable (0.03±0.231). Significant genetic correlations were generally high and positive among peak frequencies of the syllables. Despite the lack of apparent pattern, interval lengths tended to have positive correlation with spectral properties of the call, but the correlation of syllable lengths with spectral properties of the call was negative.


Resumo O objetivo deste estudo foi investigar as variâncias e covariâncias genéticas entre as características do canto de anúncio de codornas japonesas. A duração da primeira, segunda e terceira sílaba, o comprimento do intervalo 1 (entre a primeira e a segunda sílaba), o intervalo 2 (entre a segunda e a terceira sílaba) e o amortecimento (extensão da terceira sílaba) foram medidos como propriedades temporais da chamada. As propriedades espectrais foram as frequências de pico de cada sílaba e o componente de amortecimento. Neste estudo, 1730 chamadas foram registradas de 488 codornas japonesas masculinas. O procedimento de máxima verossimilhança restrita para medidas repetidas foi aplicado para estimar componentes de (co) variância e parâmetros genéticos para as características examinadas. As estimativas de herdabilidade dos parâmetros de chamada das codornas japonesas masculinas variaram entre valores baixos e altos (0,04-0,65) e foram geralmente mais elevadas para as propriedades temporais do que para as propriedades espectrais. Dentre as propriedades temporais da chamada, a maior correlação genética foi entre a primeira e a segunda sílaba (0,96 ± 0,251), enquanto a menor correlação genética foi entre a primeira e a terceira sílaba (0,03 ± 0,231). Correlações genéticas significativas foram geralmente altas e positivas entre as frequências de pico das sílabas. Apesar da falta de padrão aparente, os comprimentos de intervalo tenderam a ter uma correlação positiva com as propriedades espectrais da chamada, mas a correlação dos comprimentos das sílabas com as propriedades espectrais da chamada foi negativa.


Assuntos
Animais , Masculino , Publicidade , Coturnix , Fenótipo
11.
Braz. j. infect. dis ; 24(1): 44-50, Feb. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1089329

RESUMO

ABSTRACT The yeast phase of 22 Histoplasma capsulatum clinical isolates from Mexico, Argentina, Colombia, and Guatemala and three reference strains, one from Panama and two from the United States of America (USA), were screened for thermosensitivity characteristics using different analyses. Growth curves at 0, 3, 6, 12, 24, and 30 h of incubation at 37 and 40 °C, the growth inhibition percentage at 40 °C, and the doubling time at 37 and 40 °C were determined for all yeasts studied. Most of the isolates examined exhibited thermotolerant phenotypes at 40 °C, whereas a thermosensitive phenotype at 40 °C was only detected in the Downs reference strain from the USA. Growth inhibition values lower than 33.8% supported the predominance of the thermotolerant phenotype at 40 °C. The doubling time means found for the different isolates were 5.14 h ± 1.47 h at 37 °C and 5.55 h ± 1.87 h at 40 °C. This is the first report to underscore the predominance of thermotolerant and delayed doubling time phenotypes in H. capsulatum clinical isolates from different regions of Latin America.


Assuntos
Termotolerância/fisiologia , Histoplasma/isolamento & purificação , Histoplasma/crescimento & desenvolvimento , Fenótipo , Filogenia , Valores de Referência , Temperatura , Fatores de Tempo , Histoplasma/genética , Histoplasmose/microbiologia , América Latina
13.
Arch. endocrinol. metab. (Online) ; 64(1): 17-23, Jan.-Feb. 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1088775

RESUMO

ABSTRACT Objective We aimed to identify the frequency of monogenic diabetes, which is poorly studied in multiethnic populations, due to GCK or HNF1A mutations in patients with suggestive clinical characteristics from the Brazilian population, as well as investigate if the MODY probability calculator (MPC) could help patients with their selection. Subjects and methods Inclusion criteria were patients with DM diagnosed before 35 years; body mass index < 30 kg/m2; negative autoantibodies; and family history of DM in two or more generations. We sequenced HNF1A in 27 patients and GCK in seven subjects with asymptomatic mild fasting hyperglycemia. In addition, we calculated MODY probability with MPC. Results We identified 11 mutations in 34 patients (32.3%). We found three novel mutations. In the GCK group, six cases had mutations (85.7%), and their MODY probability on MPC was higher than 50%. In the HNF1A group, five of 27 individuals had mutations (18.5%). The MPC was higher than 75% in 11 subjects (including all five cases with HNF1A mutations). Conclusion Approximately one third of the studied patients have GCK or HNF1A mutations. Inclusion criteria included efficiency in detecting patients with GCK mutations but not for HNF1A mutations (< 20%). MPC was helpful in narrowing the number of candidates for HNF1A screening.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Adulto Jovem , Diabetes Mellitus Tipo 2 , Fator 1-alfa Nuclear de Hepatócito/genética , Glucoquinase/genética , Mutação/genética , Linhagem , Fenótipo , Brasil , Estudos Transversais , Probabilidade
14.
Arch. endocrinol. metab. (Online) ; 64(1): 11-16, Jan.-Feb. 2020. tab
Artigo em Inglês | LILACS | ID: biblio-1088769

RESUMO

ABSTRACT Objective The aim of this study was to assess the serum vitamin D level in a retrospective study in women with polycystic ovary syndrome (PCOS), according to the different phenotypes of the disease. Subjects and methods In this retrospective study, the records of 351 infertile women who were diagnosed with PCOS were examined, and 200 of them were enrolled in the study randomly in 4 PCOS phenotypes. Fifty normal ovulatory women with the history of male factor were selected as the control group. Parameters, including age, infertility duration, body mass index (BMI), hormone profile, as well as the serum vitamin D level were compared among the 4 phenotypes, with the P-value ≤ 0.05 considered statistically significant. Results The findings showed a higher serum vitamin D level in the control group than in PCOS patients, which was statistically significant (P < 0.001). In addition, there was no significant difference in the serum vitamin D level among the four phenotypes of PCOS. Conclusions No significant difference was found in the serum vitamin D level of the different phenotypes of PCOS. Further studies with larger sample sizes are recommended to be done to establish the role of the serum vitamin D level in PCOS patients.


Assuntos
Humanos , Feminino , Adolescente , Adulto , Adulto Jovem , Síndrome do Ovário Policístico/sangue , Vitamina D/sangue , Infertilidade Feminina/sangue , Fenótipo , Síndrome do Ovário Policístico/genética , Índice de Massa Corporal , Estudos de Casos e Controles , Estudos Retrospectivos
15.
Artigo em Inglês | WPRIM | ID: wpr-762182

RESUMO

PURPOSE: Data are lacking on the association between the allergic rhinitis (AR) phenotype and sensitization to specific allergens or bronchial hyperresponsiveness (BHR) in children. We here investigated risk factors and comorbidities, including sensitization to specific allergens and BHR, for the AR phenotype by AR and its Impact on Asthma (ARIA) classification in a general population-based birth cohort study. METHODS: We enrolled 606 children aged 7 years from the Panel Study of Korean Children. The AR phenotype was assigned in accordance with the ARIA classification in children. Skin prick tests and Provocholine provocation test were performed. Risk factors and comorbidities for AR phenotypes were then analyzed. RESULTS: The prevalence of mild and moderate to severe AR in our study cohort was 37.2% and 8.8%, respectively. Recent use of analgesics or antipyretics and current cat ownership were associated with the risk of mild persistent AR. Sensitizations to Dermatophagoides Pteronyssinus (Der p), Japanese hop and cat were associated with moderate to severe persistent AR. Children with moderate to severe AR had a higher risk of current asthma and BHR compared to mild AR cases (adjusted odds ratio [aOR], 5.26; 95% confidence interval [CI], 1.77–15.62). Moderate to severe AR with allergic sensitization was associated with the highest risk of BHR (aOR, 11.77; 95% CI, 3.40–40.74). CONCLUSIONS: Moderate to severe-persistent AR is more closely related to respiratory comorbidities and sensitizations than mild AR. Stratifying the AR phenotype by ARIA classification may assist in disease management.


Assuntos
Alérgenos , Analgésicos , Animais , Antipiréticos , Grupo com Ancestrais do Continente Asiático , Asma , Hiper-Reatividade Brônquica , Gatos , Criança , Classificação , Estudos de Coortes , Comorbidade , Dermatophagoides pteronyssinus , Gerenciamento Clínico , Humanos , Cloreto de Metacolina , Razão de Chances , Propriedade , Parto , Fenótipo , Prevalência , Rinite Alérgica , Fatores de Risco , Pele
16.
Artigo em Inglês | WPRIM | ID: wpr-762177

RESUMO

PURPOSE: Alterations in the intestinal microbiota in early life affects the development of atopic dermatitis (AD) in humans. This study aimed to further investigate the effects of gut dysbiosis in early life in an ovalbumin (OVA)-induced mouse model of AD. METHODS: The AD mouse model was developed by serial OVA sensitization and mice were treated with an antibiotic cocktail in their drinking water for 2 weeks before primary sensitization. Probiotics (Lactobacillus rhamnosus, 1 × 10⁹ CFU) or 100 µL of fresh fecal supernatant were orally administered daily from 1 week before the first sensitization until the end of the study. RESULTS: The AD mice which received antibiotics had significantly aggravated phenotypes, including clinical score, transepidermal water loss, and histopathology, compared to those treated with healthy feces or probiotics. Total systemic immunoglobulin E production and skin interleukin (IL) 4 levels were significantly increased in the antibiotic-treated mice compared to the other groups. Antibiotic treatment also increased the levels of IL17 and group 3 innate lymphoid cells (ILC3) in the gut and significantly suppressed the production of short-chain fatty acids (SCFAs) and decreased the number FOXP3⁺ cells. CONCLUSIONS: Our results suggest that the status of the gut microbiota in early life in the mouse may play a crucial role in AD development through intestinal SCFA production through regulate the numbers of CD4⁺IL17⁺/CD4⁺FOXP3⁺ regulatory T cells and ILC3s.


Assuntos
Animais , Antibacterianos , Citocinas , Dermatite Atópica , Água Potável , Disbiose , Ácidos Graxos , Ácidos Graxos Voláteis , Fezes , Microbioma Gastrointestinal , Humanos , Imunoglobulina E , Imunoglobulinas , Interleucinas , Intestinos , Linfócitos , Camundongos , Microbiota , Ovalbumina , Óvulo , Fenótipo , Probióticos , Pele , Linfócitos T Reguladores , Água
17.
Artigo em Chinês | WPRIM | ID: wpr-781308

RESUMO

OBJECTIVE@#To explore susceptibility genes for autism spectrum disorders (ASD).@*METHODS@#Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates.@*RESULTS@#A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2(0.8146)] and four medium-confidence genes [ERBB2(0.1322), LAMC3(0.1117), PPFIA4(0.1059), DISC1(0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO: 0048812), regulation of neuroblast proliferation (GO: 1902692), modulation of excitatory postsynaptic potential (GO: 0098815), and dendrite morphogenesis (GO: 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes.@*CONCLUSION@#Abnormal neuron projection morphogenesis (GO: 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.


Assuntos
Transtorno do Espectro Autista , Genética , Predisposição Genética para Doença , Variação Genética , Humanos , Fenótipo , Sinapses , Genética , Sequenciamento Completo do Exoma
18.
Artigo em Chinês | WPRIM | ID: wpr-781301

RESUMO

OBJECTIVE@#To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.@*METHODS@#Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.@*RESULTS@#The infant's phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.@*CONCLUSION@#The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.


Assuntos
Éxons , Genética , Testes Genéticos , Humanos , Lactente , Síndrome Oculocerebrorrenal , Genética , Fenótipo , Monoéster Fosfórico Hidrolases , Genética
19.
Artigo em Chinês | WPRIM | ID: wpr-781290

RESUMO

OBJECTIVE@#To explore the molecular basis for an individual with ABO subtype.@*METHODS@#The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.@*RESULTS@#Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.@*CONCLUSION@#The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.


Assuntos
Sistema ABO de Grupos Sanguíneos , Genética , Alelos , Éxons , Variação Genética , Genótipo , Humanos , Masculino , Fenótipo , Análise de Sequência de DNA
20.
Asia Pacific Allergy ; (4): 4-2020.
Artigo em Inglês | WPRIM | ID: wpr-785461

RESUMO

BACKGROUND: Banana fruit has been recognized as an important food allergen source. Nowadays banana hypersensitivity had been reported more frequently with various presentations from oral allergy syndrome to anaphylaxis.OBJECTIVE: This study aims to describe the pattern of banana hypersensitivity and the sensitivity of diagnostic test.METHODS: Six patients who experienced banana hypersensitivity were recruited from adult allergy clinic, Ramathibodi Hospital, Mahidol University between 2015–2018. Demographic data, pattern of banana allergy consisted of the onset of reaction, symptoms, severity, cross-reactivity to kiwi, avocado, latex including type and amount of banana were collected. Skin test, serum specific IgE to banana and open-label food challenge test had been applied.RESULTS: All patients experienced multiple episodes of banana anaphylaxis. Regarding the diagnostic investigation, prick-to-prick skin test had higher sensitivity (sensitivity, 100%; 95% confidence interval [CI], 54.07%–100%) than the commercial banana extract (sensitivity, 83.33%; 95% CI, 35.88%–99.58%) and serum specific IgE to banana (sensitivity, 50%; 95% CI, 11.81%–88.19%). The discordance between skin prick test using commercial banana extract and skin test was reported. The cross-reactivity between the species of banana, kiwi, the avocado was documented in all patients. Latex skin prick test and application test were applied with negative results. From the oral food challenge test, a case of banana anaphylaxis patient can tolerate heated banana.CONCLUSION: The various phenotypes of banana hypersensitivity were identified. The prick-to-prick test showed the highest sensitivity for diagnosis of banana allergy. However, component resolved diagnostics might be needed for conclusive diagnosis.


Assuntos
Adulto , Anafilaxia , Diagnóstico , Testes Diagnósticos de Rotina , Hipersensibilidade Alimentar , Frutas , Temperatura Alta , Humanos , Hipersensibilidade , Hipersensibilidade Imediata , Imunoglobulina E , Látex , Musa , Persea , Fenótipo , Pele , Testes Cutâneos , Tailândia
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