RESUMO
An implementation proposal that seeks to globalize the scope of the sustainable technologies developed in the University laboratories is presented. This approach uses the generation of triple-impact projects placing people at the center of technological development to bring technical and scientific knowledge into a service design oriented to global sustainable solutions. This research is an approach to what a hub for scientific research, technological implementation, and human needs would look like by designing common environments in which to interact and expand knowledge in an iterated way through the experience of all the actors involved in technological implementation. As a control case, a new technology developed at the Universidad de Buenos Aires, consisting of using sustainable materials as tubular reactor fillers for water treatment was chosen. Based on data obtained within the framework of a University extension project, in which the water quality diagnosis for human consumption was carried out and cross-examined with the mathematical analysis of sorption, design parameters of the reactor, participatory design, and open source concepts application, different virtual environments were generated with distinct objectives: i) open design environment: publishing and mapping of installed sorption reactors, reactor model plans, and useful information related to drinking water quality (aimed at contributors of the open source design environment); ii) platform for academic actors linking: connecting data between prototyping lab for participatory design of sorption reactors (aimed at university research users); iii) information disclosure page: space where the implemented technology impact is displayed and shows options to contact researchers and request a reactor design diagnosis for another community (aimed at beneficiary users). A technological service designed to link the University with the community was proposed, by resolving one of the main gaps related to the possibility for communities to access public financing for self-managed improvement projects, increasing the appropriation of the adopted technology and democratizing public investment, making it sustainable over time.
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Qualidade da ÁguaRESUMO
Leukaemia inhibitory factor (LIF) is a cytokine belonging to the interleukin-6 family that is important at the reproductive level in the uterine implantation process. However, there is very little evidence regarding its effect at the ovarian level. The aim of this work was to study the local involvement of the LIF/LIFRß system in follicular development and steroidogenesis in rat ovaries. To carry out this research, LIF/LIFR/GP130 transcript and protein levels were measured in fertile and sub-fertile rat ovaries, and in vitro experiments were performed to assess STAT3 activation. Then, in in vivo experiments, LIF was administered chronically and locally for 28 days to the ovaries of rats by means of an osmotic minipump to enable us to evaluate the effect on folliculogenesis and steroidogenesis. It was determined by quantitative polymerase chain reaction and western blot that LIF and its receptors are present in fertile and sub-fertile ovaries and that LIF varies during the oestrous cycle, being higher during the oestrus and meta/dioestrus stages. In addition to this, it was found that LIF can activate STAT3 pathways and cause pSTAT3 formation. It was also observed that LIF decreases the number and size of preantral and antral follicles without altering the number of atretic antral follicles and can increase the number of corpora lutea, with a notable increase in the levels of progesterone (P4). It is therefore possible to infer that LIF exerts an important effect in vivo on folliculogenesis, ovulation and steroidogenesis, specifically the synthesis of P4.
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Folículo Ovariano , Ovário , Feminino , Ratos , Animais , Fator Inibidor de Leucemia/farmacologia , Corpo Lúteo , OvulaçãoRESUMO
There is increasing evidence supporting the immune memory in invertebrates, but the studies are relatively neglected in insect vectors other than mosquitoes. Therefore, we tested two hypotheses: 1) Rhodnius prolixus insects possess immune memory against Trypanosoma cruzi, and 2) their immune memory is costly. The Dm28c and Y strains of T. cruzi were used, the former being more infective than the latter. On the one hand, the triatomines subjected to dual challenges with the Dm28c strain did not show significant differences in survival than those of the heterologous challenge groups control-Dm28c and Y-Dm28c. On the other hand, the insects survived longer after a dual Y-Y challenge than after the corresponding heterologous challenge (control-Y). The Y-Y, Dm28c-Y, and naïve groups showed similar survival. There was more prolonged survival following the Y-Y versus Dm28c-Dm28c dual challenge. The Dm28c-Dm28c group exhibited moulting sooner than the control-Dm28c or naïve group. In contrast, there were no differences in the probability of moulting between the Y-Y and naïve groups. The results suggest that triatomines have immune memory against the Y but not the Dm28c strain. Further investigation on triatomine and T. cruzi interaction is needed to determine if infectivity accelerates or delay growth due to innate immune memory.
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Doença de Chagas , Rhodnius , Trypanosoma cruzi , Animais , Análise Custo-Benefício , Memória Imunológica , Mosquitos VetoresRESUMO
INTRODUCCIÓN: La depresión es una patología de alta prevalencia en los adultos mayores, estando asociada a mayor morbimortalidad. Existen escasos estudios sobre prevalencia y caracterización de pacientes geriátricos hospitalizados con síntomas depresivos. MÉTODO: Se entrevistaron pacientes entre enero y marzo de 2020. Criterios de Inclusión: edad > 60 años, admitidos en las últimas 48 horas. CRITERIOS DE EXCLUSIÓN: Pfeiffer ≥ 3, Glasgow < 15, afasia, enfermedad mental, no hispanohablante. RESULTADOS: Se entrevistaron 59 pacientes, 32 mujeres y 27 varones, edad promedio 73,32 (DE 6,63). La prevalencia de test Yesavage-15 positivo fue 32,20% (19), 52,63% (10) en mujeres y 47,37% (9) en hombres. CONCLUSIONES: Los síntomas depresivos en adultos mayores admitidos en un Servicio de Medicina Interna son frecuentes, y no siempre pesquisados durante la hospitalización. La relación significativa entre Yesavage positivo e ideación suicida destaca el rol de los trastornos del ánimo en el suicidio en población geriátrica.
INTRODUCTION: Depression is a highly prevalent pathology in the elderly, associated to higher morbimortality. There are few studies on prevalence and characterization of hospitalized geriatric patients with depressive symptoms. METHOD: Patients were interviewed between january and april 2020. Inclusion criteria: age over 60 years old, admitted in the last 48 hours. EXCLUSION CRITERIA: Pfeiffer ≥ 3, Glasgow < 15, aphasias, mental diseases, no spanish-speaker. RESULTS: 59 patients were interviewed, 32 women and 27 men, mean age of 73,32 (DE 6.63) years old. Positive Yesavage score prevalence was 32,20% (19), 52,63% (10) in women and 47,37% (9) in men. CONCLUSIONS: Depressive symptoms in patients admitted to an Internal Medicine service are frequent, and often undetected during hospitalization.
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Depressão/epidemiologia , Geriatria , Hospitalização , Prevalência , Entrevistas como Assunto , Depressão/diagnósticoRESUMO
Objetivou-se avaliar o uso de secagem com pó secante ou papel toalha em leitões recém-nascidos classificados em leves ou pesados. O delineamento experimental foi o inteiramente casualizado (DIC), com esquema fatorial 2x2, com 4 tratamentos, 16 repetições e 1 animal por unidade experimental, totalizando 64 animais e 4 matrizes. Cada unidade formada por uma fêmea mestiça (Large White x Landrace), com 116 dias de gestação. Foi avaliado o desempenho dos animais, temperatura retal e de superfície após cinco minutos e trinta minutos ao nascimento, peso da leitegada, tempo de ingestão do primeiro colostro e mortalidade. Os resultados demonstraram que não houve efeito significativo (P>0,05) nos métodos de secagem e categoria de peso. Não houve efeito significativo da interação entre o método de secagem e a categoria de peso. Conclui-se que a utilização do pó secante em leitões ao nascimento proporciona redução do tempo para início da primeira ingestão do colostro, com manutenção da temperatura corporal e não altera o peso ao desmame, comparado com o uso do papel toalha.(AU)
The objective of this study was to evaluate the use of drying powder or paper towel for drying newborn piglets classified as light or heavy. A completely randomized design was used, with a 2x2 or heavy. A completely randomized treatments, 16 replicates and 1 animal per experimental unit, totaling 64 piglets and 4 sows. Each unit was formed by a crossbred female (Large White x Landrace) with 116 days of gestation. We evaluated the performance of the animals and rectal and surface temperature 5 and 30 minutes after birth, litter weight, time of first colostrum ingestion, and mortality. The results showed the absence of a significant effect (P>0.05) of drying method or weight category. There was no significant effect of the interaction between drying method and weight category. In conclusion, the use of drying powder in piglets at birth reduces the time to first colostrum intake, with maintenance of body temperature, and does not alter weaning weight when compared to the use of paper towel.(AU)
Assuntos
Animais , Feminino , Gravidez , Recém-Nascido , Higiene da Pele/métodos , Higiene da Pele/veterinária , Pós para o Corpo , Papel , Suínos/fisiologia , Colostro , Temperatura Corporal , Pesos e Medidas Corporais/veterináriaRESUMO
Objetivou-se avaliar o uso de secagem com pó secante ou papel toalha em leitões recém-nascidos classificados em leves ou pesados. O delineamento experimental foi o inteiramente casualizado (DIC), com esquema fatorial 2x2, com 4 tratamentos, 16 repetições e 1 animal por unidade experimental, totalizando 64 animais e 4 matrizes. Cada unidade formada por uma fêmea mestiça (Large White x Landrace), com 116 dias de gestação. Foi avaliado o desempenho dos animais, temperatura retal e de superfície após cinco minutos e trinta minutos ao nascimento, peso da leitegada, tempo de ingestão do primeiro colostro e mortalidade. Os resultados demonstraram que não houve efeito significativo (P>0,05) nos métodos de secagem e categoria de peso. Não houve efeito significativo da interação entre o método de secagem e a categoria de peso. Conclui-se que a utilização do pó secante em leitões ao nascimento proporciona redução do tempo para início da primeira ingestão do colostro, com manutenção da temperatura corporal e não altera o peso ao desmame, comparado com o uso do papel toalha.
The objective of this study was to evaluate the use of drying powder or paper towel for drying newborn piglets classified as light or heavy. A completely randomized design was used, with a 2x2 or heavy. A completely randomized treatments, 16 replicates and 1 animal per experimental unit, totaling 64 piglets and 4 sows. Each unit was formed by a crossbred female (Large White x Landrace) with 116 days of gestation. We evaluated the performance of the animals and rectal and surface temperature 5 and 30 minutes after birth, litter weight, time of first colostrum ingestion, and mortality. The results showed the absence of a significant effect (P>0.05) of drying method or weight category. There was no significant effect of the interaction between drying method and weight category. In conclusion, the use of drying powder in piglets at birth reduces the time to first colostrum intake, with maintenance of body temperature, and does not alter weaning weight when compared to the use of paper towel.
Assuntos
Feminino , Animais , Gravidez , Recém-Nascido , Colostro , Higiene da Pele/métodos , Higiene da Pele/veterinária , Papel , Pós para o Corpo , Suínos/fisiologia , Pesos e Medidas Corporais/veterinária , Temperatura CorporalRESUMO
Los ovinos criollos son los fundadores de la ganadería ovina en la Argentina y han contribuido de manera sostenida al desarrollo económico, social y cultural de algunas regiones del país. A pesar de ello, es un recurso zoogenético escasamente valorizado y por ende poco estudiado. En orden de caracterizar genéticamente a los ovinos criollos argentinos, se tomaron muestras de ADN de cuatro poblaciones representativas localizadas en las provincias de Buenos Aires, Corrientes, Santiago del Estero y Salta. Estas majadas se seleccionaron por ser grupos conservados, que presentan las características fenotípicas de la raza y no registran la introducción de animales de otras razas en el sistema de reproducción. Un total de 30 marcadores microsatélites y la región D-loop del ADN mitocondrial fueron analizados. El análisis de los microsatélites permitió evidenciar una alta diversidad genética intrapoblacional (Ho= 0,676; He= 0,685; PIC= 0,713). Dicha variabilidad es explicada por diferencias entre los patrones moleculares de los individuos estudiados que pueden clasificarse en 3 grupos de poblaciones significativamente diferentes: BA, SA, SE+CO. Dado que dichas poblaciones explican muy poco de la variabilidad total (7,6%), ellas deberían considerarse perteneciente a una misma raza. El análisis del D-loop mitocondrial demostró que los individuos analizados están relacionados con el haplogrupo asiático, el cual está ampliamente distribuido en las razas españolas que son las antecesoras de la raza criolla argentina. Los resultados obtenidos en este trabajo proveerán información para establecer criterios de manejo de este recurso genético de Argentina con el fin de implementar planes de conservación, recuperación y/o mejora de los programas.
Creole sheep are the founders of sheep farming in Argentina and have contributed in a sustained way to the economic, social and cultural development of some regions of this country. However, it is a scarcely valorised and poorly studied genetic resource. In order to genetically characterize the Argentinian Creole sheep, DNA samples were taken from four representative populations located in the provinces of Buenos Aires, Corrientes, Santiago del Estero and Salta. These flocks were selected because they are considered to be conserved groups, they have the phenotypic characteristics of the creole breed and there are no records about the introduction of animals of other breeds into those systems. A total of 30 microsatellites and the D-loop region of mitochondrial DNA were analysed. Microsatellite analysis showed high level of genetic diversity within populations (Ho= 0.676; He= 0.685; PIC= 0.713). This variability is explained by differences between molecular patterns of the studied individuals, which can be classified into three significantly different population groups: BA, SA, SE+CO. Since these populations explain very little of the total variability (7.6%), it can be considered that they belong to a same race. The analysis of the mitochondrial D-loop showed that Argentinian Creole sheep have haplotypes belonging to the Asian haplogroup, which is widely distributed in the Spanish breeds, which are considered to be their ancestors. The results obtained in the present study will provide information to develop management criteria for this genetic resource in Argentina, in order to implement their conservation, recovery and/or to develop breeding programs.
RESUMO
BACKGROUND: Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an early age. We identified a community in the state of Goias (central Brazil), a sunny and tropical region, with a high incidence of XP (17 patients among approximately 1000 inhabitants). OBJECTIVES: To identify gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes. METHODS: Functional analyses of DNA repair capacity and cell-cycle responses after ultraviolet exposure were investigated in cells from local patients with XP, allowing the identification of the mutated gene, which was then sequenced to locate the mutations. A specific assay was designed for mapping the distribution of these mutations in the community. RESULTS: Skin primary fibroblasts showed normal DNA damage removal but abnormal DNA synthesis after ultraviolet irradiation and deficient expression of the Polη protein, which is encoded by POLH. We detected two different POLH mutations: one at the splice donor site of intron 6 (c.764 +1 G>A), and the other in exon 8 (c.907 C>T, p.Arg303X). The mutation at intron 6 is novel, whereas the mutation at exon 8 has been previously described in Europe. Thus, these mutations were likely brought to the community long ago, suggesting two founder effects for this rare disease. CONCLUSIONS: This work describes a genetic cluster involving POLH, and, particularly unexpected, with two independent founder mutations, including one that likely originated in Europe.
Assuntos
Efeito Fundador , Mutação/genética , Neoplasias Cutâneas/genética , Xeroderma Pigmentoso/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/etnologia , Europa (Continente)/etnologia , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Células Tumorais Cultivadas , Xeroderma Pigmentoso/etnologiaRESUMO
Mammalian ovary development undergoes important changes during the perinatal period, moment when follicles are assembled and start to develop in a process not well known, involving endocrine and paracrine factors. In order to investigate the effect of two different hormonal environments on the early development of the ovary, we used an autologous transplant model in which Syrian hamster fetal ovaries were grafted under the kidney capsule of males hosts previously unilaterally or bilaterally orchidectomized. After 35 days of graft, ovaries and kidney parenchyme of the host male did not present signs of rejection. Ovaries contained primordial, primary follicles, secondary follicles and few tertiary follicles with morphological features similar to ovaries of control females of 35 days of age. Healthy primary and secondary follicles of experimental groups had frequency distribution and size similar to control ovaries but tertiary follicles were scarce in control as well as in grafts where they were mainly atretic. PCNA, marker of proliferation, was immuno detected in granulosa cells of growing follicles and the marker of apoptosis, Caspase 3 active, was evident mainly in secondary follicles. Immunoreactivity for steroidogenic proteins, StAR, 3-bHSD and aromatase detected in the follicular wall cells and the decreased serum levels of FSH without important changes in testosterone in bilateral orchidectomized males that received ovarian graft, and testosterone decreased without changes in FSH levels in unilateral orchidectomized males (UO) with ovarian graft, all together suggest the effect of steroid hormones produced by the ovary. In conclusion, the experimental model of autologous transplant presents evidence of early ovary development under the kidney capsule and its functional integration to the endocrine axis of the host male.
El desarrollo del ovario en mamíferos sufre importantes cambios durante el periodo perinatal, momento en el cual los folículos se ensamblan y comienzan a desarrollarse en un proceso no muy dilucidado que involucra señales endocrinas y paracrinas. Con el objetivo de investigar el efecto de dos ambientes hormonales sobre el desarrollo temprano del ovario de hamster, usamos un modelo de trasplante autólogo en el que ovarios fetales fueron trasplantados bajo la cápsula renal de machos receptores previamente castrados y hemicastrados. Después de 35 días de trasplante, los ovarios y el parénquima renal de los machos receptores no presentaron señales de rechazo. El ovario presentó folículos primordiales, primarios, secundarios y algunos folículos terciarios con características morfológicas similares a los ovarios de hembras controles de 35 días de edad. Folículos primarios y secundarios sanos de ambos grupos experimentales se encontraron en frecuencia y tamaño similar al de ovarios controles, los folículos terciarios fueron escasos tanto en controles como en ovarios trasplantados, siendo en éstos principalmente atrésicos. PCNA, un marcador de proliferación celular, fue detectado por inmunohistoquímica en células granulosas de folículos en crecimiento, mientras que caspasa 3 activa, un marcador de apoptosis, fue evidente en folículos secundarios. Por otra parte, inmunoreactividad para proteínas esteroidogénicas, StAR, 3-bHSD y aromatasa, fue detectada en la pared folicular. Esta observación, junto a la disminución de niveles séricos de FSH, sin cambios importantes en los niveles de testosterona en machos castrados que recibieron trasplantes ováricos, y la disminución en los niveles de testosterona sin cambios en los niveles de FSH en machos hemicastrados con trasplantes ováricos, sugiere que el ovario no solo produce hormonas esteroidales sino que además éstas modifican los niveles hormonales del macho receptor del trasplante. En conclusión, este modelo de trasplante autólogo agrega información del desarrollo ovárico temprano cuando éste se desarrolla bajo la cápsula renal de machos entregando evidencia de la integración funcional del ovario trasplantado al eje endocrino de los machos receptores.
Assuntos
Animais , Masculino , Folículo Ovariano/crescimento & desenvolvimento , Ovário/transplante , Esteroides/metabolismo , Cricetinae , Imuno-Histoquímica , Rim , Orquiectomia , Transplante AutólogoRESUMO
We have previously developed a panel of 40 insertion-deletion (INDEL) human DNA polymorphisms that was proven to ad-equately cover the span of global human genetic diversity. The panel was found to have very low matching probabilities with respect to both the global and Brazilian populations. To optimize the panel for application with degraded DNA samples, which are commonly encountered in fo-rensic analysis, we have significantly reduced the amplicon size of the INDELs and developed a new multiplex panel. The panel has an ampli-con size ranging from 50 to 153 base pairs, with a mean of 93 base pairs. It could be amplified by polymerase chain reaction in two multiplex re-actions, which were then combined for electrophoretic separation and identification of the individual products in the ABI3130 four-color DNA analyzer. The results of the new panel were fully validated.
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Genética Forense/métodos , Mutação INDEL , Reação em Cadeia da Polimerase Multiplex/métodos , DNA/análise , DNA/genética , Frequência do Gene , Variação Genética , Genética Populacional , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
We have recently performed exome analysis in a 7 year boy who presented in infancy with an encephalopathy characterized by ataxia and myoclonic epilepsy. Parents were not consanguineous and there was no family history of the disease. Exome analysis did not show any pathogenic variants in genes known to be associated with seizures and/or ataxia in children, including all known human channelopathies. However, we have identified a mutation in KCNA2 that we believe to be responsible for the disease in our patient. This gene, which encodes a member of the potassium channel, voltage-gated, shaker-related subfamily, has not been previously described as a cause of disease in humans, but mutations of the orthologous gene in mice (Kcna2) are known to cause both ataxia and convulsions. The mutation is c.890C>A, leading to the amino acid substitution p.Arg297Gln, which involves the second of the critical arginines in the S4 voltage sensor. This mutation is characterized as pathogenic by five different prediction programs. RFLP analysis and Sanger sequencing confirmed the presence of the mutation in the patient, but not in his parents, characterizing it as de novo. We believe that this discovery characterizes a new channelopathy.
Assuntos
Ataxia/genética , Canalopatias/genética , Epilepsias Mioclônicas/genética , Canal de Potássio Kv1.2/genética , Substituição de Aminoácidos , Animais , Ataxia/patologia , Canalopatias/patologia , Epilepsias Mioclônicas/patologia , Exoma , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Camundongos , MutaçãoRESUMO
Brazil is a major producer and exporter of beef, with a herd of approximately 210 million animals. For the meat industry, a reliable animal traceback from its origin to the consumer market is paramount. Of all available identification systems, DNA is the only one that survives the slaughterhouse and reaches the dish of the consumer. DNA polymorphisms are already used for cattle traceback, but primarily for the subspecies Bos taurus taurus. However, in Brazil, another subspecies, B. taurus indicus predominates. We describe here the development of a DNA traceback method designed primarily for B. taurus indicus (Zebu), without leaving B. taurus taurus aside. We used insertion/deletion (indel) polymorphisms, which have the advantage of being simple and easily automatable, since in most cases, the variable loci are biallelic. We studied 94 indels, with a difference of two or more base pairs, in DNA pools of 60 Zebu and 60 taurine animals. A set of 22 indels with heterozygosity greater than 0.3 were selected and used to construct two multiplex PCRs. On the basis of the allelic frequency of these indels, the probability of random match was calculated to be 1.12 x 10(-8) for B. taurus indicus and 1.60 x 10(-6) for B. taurus taurus. Moreover, we estimated that an analysis would cost less than US$15.00 per animal. Thus, this system (MULTINDELS-BOV) is perfectly suited for building large genetic databases and offering viable prospects of a national system for cattle traceback DNA in Brazil.
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Bovinos/genética , DNA/genética , Mutação INDEL/genética , Polimorfismo Genético , Alelos , Animais , Eletroforese em Gel de Poliacrilamida , Frequência do Gene/genética , Loci Gênicos , Coloração pela PrataRESUMO
Personalized medicine is becoming a medical reality, as important genotype-phenotype relationships are being unraveled. The availability of pharmacogenomic data is a key element of individualized care. In this study, we explored genotype imputation as a means to infer important pharmacogenomic alleles from a regular commercially available genome-wide SNP array. Using these arrays as a starting point can reduce testing costs, increasing access to these pharmacogenomic data and still retain a larger amount of genome-wide information. IMPUTE2 and MaCH-Admix were used to perform genotype imputation with a dense reference panel from 1000 Genomes data. We were able to correctly infer genotypes for the warfarin-related loci VKORC1 and CYP2C9 alleles 2, 3, 5, and 11 and also clopidogrel-related CYP2C19 alleles 2 and 17 for a small sample of Brazilian individuals, as well as for HapMap samples. The success of an imputation approach in admixed samples using publicly available reference panels can encourage further imputation initiatives in those populations.
Assuntos
Alelos , Estudo de Associação Genômica Ampla , Farmacogenética , Polimorfismo de Nucleotídeo Único , Brasil , Biologia Computacional , Citocromo P-450 CYP2C9/genética , Bases de Dados de Ácidos Nucleicos , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Software , Vitamina K Epóxido Redutases/genéticaRESUMO
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. However, the unaffected mother also had the same PDGFRB mutation. We showed that both children had also inherited from their healthy father a heterozygous mutation in the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme known to dephosphorylate PDGFRB. We suggest that in this family, the additional mutation in PTPRG may explain the full phenotypic penetrance in the siblings affected, in comparison with the unaffected mother.
Assuntos
Genes Modificadores , Mutação , Miofibromatose/congênito , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Proteínas Tirosina Fosfatases Classe 5 Semelhantes a Receptores/genética , Adulto , Sequência de Bases , Criança , Exoma , Feminino , Regulação da Expressão Gênica , Genótipo , Heterozigoto , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Miofibromatose/genética , Miofibromatose/patologia , Linhagem , Penetrância , Fenótipo , IrmãosRESUMO
OBJECTIVE: To determine the extent of mitochondrial DNA (mtDNA) damage in systemic lupus erythematosus (SLE) patients compared to healthy subjects and to determine the factors associated with mtDNA damage among SLE patients. METHODS: A cross-sectional study was performed in 86 SLE patients (per American College of Rheumatology classification criteria) and 86 healthy individuals matched for age and gender. Peripheral blood mononuclear cells (PBMCs) were collected from subjects to assess the relative amounts of mtDNA damage. Quantitative polymerase chain reaction assay was used to measure the frequency of mtDNA lesions and mtDNA abundance. Socioeconomic-demographic features, clinical manifestations, pharmacologic treatment, disease activity, and damage accrual were determined. Statistical analyses were performed using t test, pairwise correlation, and Pearson's chi-square test (or Fisher's exact test) as appropriate. RESULTS: Among SLE patients, 93.0% were women. The mean (SD) age was 38.0 (10.4) years and the mean (SD) disease duration was 8.7 (7.5) years. SLE patients exhibited increased levels of mtDNA damage as shown by higher levels of mtDNA lesions and decreased mtDNA abundance as compared to healthy individuals. There was a negative correlation between disease damage and mtDNA abundance and a positive correlation between mtDNA lesions and disease duration. No association was found between disease activity and mtDNA damage. CONCLUSION: PBMCs from SLE patients exhibited more mtDNA damage compared to healthy subjects. Higher levels of mtDNA damage were observed among SLE patients with major organ involvement and damage accrual. These results suggest that mtDNA damage have a potential role in the pathogenesis of SLE.
Assuntos
Dano ao DNA , DNA Mitocondrial/metabolismo , Leucócitos Mononucleares/metabolismo , Lúpus Eritematoso Sistêmico/fisiopatologia , Adulto , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Índice de Gravidade de Doença , Fatores de TempoRESUMO
Avaliou-se o efeito de estratégias nutricionais sobre o desempenho e as características de carcaça de suínos dos 30 aos 100kg. Foram utilizados 120 suínos, distribuídos em delineamento experimental de blocos ao acaso, com cinco tratamentos e oito repetições de três animais por unidade experimental. Os tratamentos usados foram: dieta-controle = dieta com alta proteína bruta sem aminoácidos industriais; dieta baixa PB= dieta com baixa proteína bruta com aminoácidos industriais; dieta fitase = dieta-controle com suplementação de fitase; dieta orgânica = dieta-controle suplementada com minerais inorgânico-orgânicos; e dieta composta = dieta com baixa proteína bruta suplementada com aminoácidos industriais, fitase e minerais inorgânico-orgânicos. As dietas avaliadas não alteraram o desempenho e as características de carcaça dos suínos em comparação aos animais da dieta-controle. Conclui-se que a redução de proteína bruta, a suplementação com fitase e minerais inorgânico-orgânicos podem ser adotadas por não alterarem significativamente o desempenho nas fases de crescimento e terminação e as características de carcaças.
The objective was to evaluate the effect of different nutritional strategies on performance and carcass traits of pigs from 30 to 100kg. One hundred and twenty pigs were used, distributed in randomized blocks, with five treatments and eight replicates of three animals per experimental unit. Treatments were: control diet = corn-soybean based diet without synthetic amino acids; low crude protein diet = corn-soybean based diet with low protein and synthetic amino acids; phytase diet = control diet supplemented with phytase; organic diet = control diet supplemented with inorganic and organic minerals; and combination diet = diet with low protein supplemented with phytase and inorganic-organic minerals. Means were compared with the control diet by the Dunnett test. The diets evaluated did not alter the performance of pigs when compared to pigs fed the control diet. The reduction of crude protein, supplementation with phytase and inorganic-organic minerals can be adopted without significantly changing performance during the growing-finishing and carcass traits at 100kg.
Assuntos
Animais , Fenômenos Fisiológicos da Nutrição Animal , Nutrientes/análise , Nutrientes/efeitos adversos , SuínosRESUMO
Avaliou-se o efeito de estratégias nutricionais sobre o desempenho e as características de carcaça de suínos dos 30 aos 100kg. Foram utilizados 120 suínos, distribuídos em delineamento experimental de blocos ao acaso, com cinco tratamentos e oito repetições de três animais por unidade experimental. Os tratamentos usados foram: dieta-controle = dieta com alta proteína bruta sem aminoácidos industriais; dieta baixa PB= dieta com baixa proteína bruta com aminoácidos industriais; dieta fitase = dieta-controle com suplementação de fitase; dieta orgânica = dieta-controle suplementada com minerais inorgânico-orgânicos; e dieta composta = dieta com baixa proteína bruta suplementada com aminoácidos industriais, fitase e minerais inorgânico-orgânicos. As dietas avaliadas não alteraram o desempenho e as características de carcaça dos suínos em comparação aos animais da dieta-controle. Conclui-se que a redução de proteína bruta, a suplementação com fitase e minerais inorgânico-orgânicos podem ser adotadas por não alterarem significativamente o desempenho nas fases de crescimento e terminação e as características de carcaças.(AU)
The objective was to evaluate the effect of different nutritional strategies on performance and carcass traits of pigs from 30 to 100kg. One hundred and twenty pigs were used, distributed in randomized blocks, with five treatments and eight replicates of three animals per experimental unit. Treatments were: control diet = corn-soybean based diet without synthetic amino acids; low crude protein diet = corn-soybean based diet with low protein and synthetic amino acids; phytase diet = control diet supplemented with phytase; organic diet = control diet supplemented with inorganic and organic minerals; and combination diet = diet with low protein supplemented with phytase and inorganic-organic minerals. Means were compared with the control diet by the Dunnett test. The diets evaluated did not alter the performance of pigs when compared to pigs fed the control diet. The reduction of crude protein, supplementation with phytase and inorganic-organic minerals can be adopted without significantly changing performance during the growing-finishing and carcass traits at 100kg.(AU)
Assuntos
Animais , Nutrientes/efeitos adversos , Nutrientes/análise , Suínos , Fenômenos Fisiológicos da Nutrição Animal , 6-FitaseRESUMO
The seroprevalence of Toxoplasma gondii infection in horses in Mexico is unknown. Therefore, antibodies to T. gondii were assessed in 495 horses in Durango State, Mexico, using the modified agglutination test (MAT). Horses were from 18 farms in 3 municipalities in the valley region of Durango State. Antibodies to T. gondii were found in 30 (6.1%) of 495 horses, with MAT titers of 1:25 in 19, 1:50 in 6, and 1:100 in 5. Seropositive horses were found in 8 (44.4%) of 18 farms sampled in all 3 municipalities. Age, gender, and breed of horses did not influence significantly the seroprevalence of T. gondii infection. The seroprevalence in horses was higher in rural (7.8%) versus urban (0%) areas, and in larger herds (30-64 horses, 7.8%) versus smaller ones (3-28, 3.5%). The seroprevalence was higher in stall fed (16.5%) than in pastured horses (3.1%). Results indicate that infected horses represent a potential source of T. gondii infection for humans in Mexico. This is the first report of T. gondii infection in horses in Mexico.
Assuntos
Anticorpos Antiprotozoários/sangue , Doenças dos Cavalos/epidemiologia , Toxoplasma/imunologia , Toxoplasmose Animal/epidemiologia , Animais , Animais Domésticos , Gatos , Feminino , Doenças dos Cavalos/imunologia , Doenças dos Cavalos/parasitologia , Cavalos , Masculino , México/epidemiologia , Estudos Soroepidemiológicos , Toxoplasmose Animal/imunologiaRESUMO
The impact of biogeographical ancestry, self-reported 'race/color' and geographical origin on the frequency distribution of 10 CYP2C functional polymorphisms (CYP2C8*2, *3, *4, CYP2C9*2, *3, *5, *11, CYP2C19*2, *3 and *17) and their haplotypes was assessed in a representative cohort of the Brazilian population (n=1034). TaqMan assays were used for allele discrimination at each CYP2C locus investigated. Individual proportions of European, African and Amerindian biogeographical ancestry were estimated using a panel of insertion-deletion polymorphisms. Multinomial log-linear models were applied to infer the statistical association between the CYP2C alleles and haplotypes (response variables), and biogeographical ancestry, self-reported Color and geographical origin (explanatory variables). The results showed that CYP2C19*3, CYP2C9*5 and CYP2C9*11 were rare alleles (<1%), the frequency of other variants ranged from 3.4% (CYP2C8*4) to 17.3% (CYP2C19*17). Two distinct haplotype blocks were identified: block 1 consists of three single nucleotide polymorphisms (SNPs) (CYP2C19*17, CYP2C19*2 and CYP2C9*2) and block 2 of six SNPs (CYP2C9*11, CYP2C9*3, CYP2C9*5, CYP2C8*2, CYP2C8*4 and CYP2C8*3). Diplotype analysis generated 41 haplotypes, of which eight had frequencies greater than 1% and together accounted for 96.4% of the overall genetic diversity. The distribution of CYP2C8 and CYP2C9 (but not CYP2C19) alleles, and of CYP2C haplotypes was significantly associated with self-reported Color and with the individual proportions of European and African genetic ancestry, irrespective of Color self-identification. The individual odds of having alleles CYP2C8*2, CYP2C8*3, CYP2C9*2 and CYP2C9*3, and haplotypes including these alleles, varied continuously as the proportion of European ancestry increased. Collectively, these data strongly suggest that the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of pharmacogenomic studies of the CYP2C cluster in order to avoid spurious conclusions based on improper matching of study cohorts. This conclusion extends to other polymorphic pharmacogenes among Brazilians, and most likely to other admixed populations of the Americas.
Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , População Negra/genética , Sistema Enzimático do Citocromo P-450/genética , Indígenas Sul-Americanos/genética , Polimorfismo de Nucleotídeo Único , População Branca/genética , Brasil/epidemiologia , Análise por Conglomerados , Citocromo P-450 CYP2C19 , Citocromo P-450 CYP2C8 , Citocromo P-450 CYP2C9 , Frequência do Gene , Haplótipos , Humanos , Razão de ChancesRESUMO
There is a lack of information concerning the prevalence of Toxoplasma gondii infection in wild birds in Mexico. In the present study, serum samples and tissues from 653 birds from Durango State, Mexico, were evaluated for T. gondii infection. Antibodies to T. gondii (modified agglutination test, titer 1â¶25 or higher) were found in 17 (2.6%) of the 653 birds, including 1 of 2 curve-billed thrashers (Toxostoma curvirostre), 2 (1 Anas platyrhynchos, 1 Anas diazi) of 4 ducks, 1 of 2 eagles (Aquila sp.), 5 (27.8%) of 18 great-tailed grackles (Quiscalus mexicanus), 7 (1.3%) of 521 rock pigeons (Columba livia), and 1 (14.3%) of 7 quail (Coturnix coturnix). The seroprevalence of T. gondii infection in birds captured in a park outside the city zoo (11.6%, 8/69) was significantly higher than that found in birds from other regions (1.5%, 9/584, OR â=â 8.38; 95% CI: 2.82-24.77; P â=â 0.0001). Brains and hearts of 23 birds (17 seropositive, 6 seronegative) were bioassayed in mice for the isolation of T. gondii . Viable T. gondii was isolated from 1 of 7 seropositive pigeons. The DNA obtained from the T. gondii isolate from the pigeon was genotyped using the PCR-RFLP typing using 11 markers (B1, SAG1, SAG2, SAG3, BTUB, GRA6, c22-8, c29-2, L358, PK1, and Apico) and revealed an atypical genotype. This is the first report of T. gondii infection in great-tailed grackles, the Mexican duck, and curved-billed thrashers and the first survey of wild birds in Mexico.