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1. The ferritin heavy chain (FHC) has a vital impact on follicular development in geese, due to its ability to regulate apoptosis of granulosa cells (GCs) and follicular atresia. However, its specific regulatory mechanisms remain unclear. The present study characterised how FHC regulates oxidative stress, cell proliferation and apoptosis in goose GCs by interfering with and overexpressing the FHC gene.2. After 72 h of interference with FHC expression, the activity of GCs decreased remarkably (p < 0.05), reactive oxygen species (ROS) levels and the expression levels of antioxidant enzyme genes catalase (CAT), superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) increased significantly (p < 0.05). The overexpression of FHC for 72 h was found to significantly reduce the expression of CAT and SOD genes (p < 0.05).3. Interfering with FHC expression revealed that the expression levels of the cell proliferation gene Aurora kinase A (AURORA-A) were significantly decreased (p < 0.05), while the expression levels of the apoptosis genes B-cell lymphoma-2 (BCL-2) and cysteine aspartate-specific protease 8 (CASPASE 8) increased (p < 0.05). Further research has shown that, when interfering with FHC expression for 72 h, apoptosis rate increased by 1.19-fold (p < 0.05), but the current data showed a lower apoptosis rate after FHC overexpression by 59.41%, 63.39%, and 52.31% at three different treatment times (p < 0.05).4. In conclusion, FHC improved the antioxidant capacity of GCs, promotes GCs proliferation, and inhibits GCs apoptosis of ovarian follicles in Sichuan white geese.
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Apoferritinas , Apoptosis , Proliferación Celular , Gansos , Células de la Granulosa , Estrés Oxidativo , Animales , Femenino , Gansos/fisiología , Células de la Granulosa/fisiología , Apoferritinas/genética , Apoferritinas/metabolismo , Proteínas Aviares/genética , Proteínas Aviares/metabolismo , Especies Reactivas de Oxígeno/metabolismoRESUMEN
Nocardiosis, characterized by poor prognosis and high mortality, is a local or systemic suppurative or granulomatous disease caused by Nocardia that is common in immunosuppressed individuals but rare in populations with normal immune function. This paper described one case of Nocardia gipuzkoensis disseminated infection in a patient with normal immune function by outlining the process of treatment, conducting literature review and by outlining the clinical characteristics, diagnostic criteria and standardized treatments of nocardia disease, in the hope of providing reference for subsequent treatment of rare Nocardia subspecies infections.
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Nocardiosis , Nocardia , Humanos , Nocardiosis/diagnóstico , Nocardiosis/tratamiento farmacológico , Nocardia/aislamiento & purificación , Masculino , Persona de Mediana Edad , InmunocompetenciaRESUMEN
Objective: To evaluate the response of peripheral blood mononuclear cells (PBMCs) in patients with human immunodeficiency virus (HIV) combined with active tuberculosis (TB) to TB-specific antigen stimulation. Methods: From January to December, 2018, individuals infected with both HIV and TB (HIV/TB group) were taken as the study subjects. Individuals infected with HIV alone (HIV group), individuals infected with TB alone (TB group) and healthy people (Health control group, HC group) were taken as the control groups. PBMCs were isolated and stimulated with purified protein derivative of bacillus calmette-guerin (BCG-PPD). The expression of surface molecules in T cells (CD3+, CD4+, CD8+) and monocytes (CD14+) and the percentages of Interferon (IFN)-γ and tumor necrosis factor (TNF)-α were detected by cell surface molecular staining, direct intracellular cytokine staining and flow cytometry (CD3- lymphocytes were mainly B lymphocytes and NK cells). Analysis of non-parametric data was used to compare the data between the two groups, and paired t-test was used to compare the data before and after PPD stimulation in each group. Results: Before PPD stimulation, the percentage of IFN-γ+ CD8+ cells in the peripheral blood of HIV/TB group(mean 0.52%) was significantly lower than that in TB group(mean 0.94%, P=0.010). The TNF-α+cell percentages in CD3+, CD4+, CD8+, or CD14+ cells in the HIV/TB group(mean 19.2%) were significantly lower than those in the HIV group(mean 31.9%, P=0.002). The percentage of TNF-α secreted by monocytes in the HIV group was significantly lower than that in the HC group. The percentages of IFN-γ+ CD8+ and IFN-γ+ CD3- cells in the peripheral blood of the TB group (mean 0.94%) were significantly higher than thoset in the HC group(mean 0.51%, P=0.020), while the percentages of TNF-α+ cells in each subsets of PBMCs were significantly lower than those in the HC group. After PPD stimulation, the percentage of IFN-γ+ CD8+ cells in the HIV/TB group was significantly lower than that in the TB group(P=0.008), and the change was more marked than that before stimulation. The percentage of IFN-γ+ CD8+ cells in the HIV group(mean 0.20%) was lower than that in the HC group (mean 0.52%, P=0.044). The percentage of IFN-γ+ CD3- in the TB group was significantly higher than in the HC group. There were no significant differences in TNF-α+ cell percentages in the 3 groups compared with the control group after PPD stimulation. The percentages of IFN-γ+ CD4+ cells in the HC and the TB groups were significantly increased after PPD stimulation in each group (P=0.002, P=0.001, respectively). However, there were no significant differences of IFN-γ+ CD4+ cell percentages in the HIV/TB group and the HIV group. The percentages of TNF-α production by monocytes were significantly increased after PPD stimulation in all groups. Conclusions: Chronic Mycobacterium tuberculosis (MTB) infection reduced the ability of PBMCs to produce TNF-α. For patients with TB infection, the production of TNF-α was reduced when combined with HIV infection. The capacity of CD8+ and CD3- lymphocytes to produce IFN-γ was increased in TB patients, while the capacity of CD8+ T cells to produce IFN-γ was decreased with co-infection of HIV. Infection of HIV weakened the immune response to MTB infection, which made the clinical diagnosis and treatment of TB more difficult.
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Infecciones por VIH , Mycobacterium tuberculosis , Tuberculosis , Humanos , Infecciones por VIH/metabolismo , Linfocitos T CD8-positivos/metabolismo , Tuberculina/metabolismo , Factor de Necrosis Tumoral alfa/metabolismo , Leucocitos Mononucleares , Tuberculosis/microbiología , Linfocitos T CD4-Positivos/metabolismoRESUMEN
Parathyroid hormone (PTH) is a crucial regulator of calcium homeostasis and bone remodeling, and the parathyroid hormone 1 receptor (PTH1R) belongs to a class II G-protein-coupled receptor. PTH activates PTH1R, which mediates catabolic and anabolic processes in the skeleton. However, the functional mechanism of PTH1R has not been thoroughly elucidated in organisms. This study identified a 51 bp indel mutation in the first intron of the PTH1R gene and elucidated the effect of this gene mutation on the growth and carcass traits in chickens. The results indicated that the 51 bp indel was significantly associated with subcutaneous fat thickness, abdominal fat weight, body weight and daily gain over 4-8 weeks. Furthermore, we found that PTH1R gene expression was highest in the kidney and liver tissues, and it showed a trend of decreasing in leg and breast muscle tissues at different embryonic stages. In addition, we examined the expression of the three genotypes of the PTH1R gene in the liver, breast muscle and abdominal fat and found that the II genotype was significantly higher than the DD and ID genotypes. In summary, these findings suggest that the PTH1R gene can serve as a potential molecular marker for chicken breeding.
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Proteínas Aviares/genética , Pollos/fisiología , Mutación INDEL , Polimorfismo Genético , Receptor de Hormona Paratiroídea Tipo 1/genética , Animales , Proteínas Aviares/metabolismo , Pollos/genética , Pollos/crecimiento & desarrollo , Femenino , Carne/análisis , Receptor de Hormona Paratiroídea Tipo 1/metabolismoRESUMEN
Respiratory support is a very important technique for saving severe 2019-nCoV pneumonia patients who suffering respiratory failure, which can improve oxygenation, reduce mortality. Therefore, how to reasonable using respiratory support technique is the key point that relating success or failure. In this paper, the authors introduce their experience on treating severe 2019-nCoV pneumonia, it is hopeful for current fighting against 2019-nCoV in China.
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Betacoronavirus , Infecciones por Coronavirus/complicaciones , Neumonía Viral/tratamiento farmacológico , Síndrome de Dificultad Respiratoria/terapia , Insuficiencia Respiratoria/terapia , COVID-19 , China , Humanos , Neumonía Viral/complicaciones , Neumonía Viral/etiología , Respiración Artificial , Síndrome de Dificultad Respiratoria/virología , Insuficiencia Respiratoria/virología , SARS-CoV-2RESUMEN
Respiratory support is a very important technique for saving severe 2019-nCoV pneumonia patients who suffering respiratory failure, which can improve oxygenation, reduce mortality. Therefore, how to reasonable using respiratory support technique is the key point that relating success or failure. In this paper, the authors introduce their experience on treating severe 2019-nCoV pneumonia, it is hopeful for current fighting against 2019-nCoV in China.
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BACKGROUND & AIMS: A growing body of evidence suggests that beta-glucan derived from oats or barley can reduce cardiovascular disease risk through reductions in serum lipids. However, the effects of beta-glucan on lipid changes in hypercholesterolemic patient groups are inconsistent. The objective of this study was to identify and quantify the effect of beta-glucan, a marker of water-soluble fiber, on various lipid parameters and glucose level in hypercholesterolemic subjects. METHODS AND RESULTS: We performed a comprehensive literature search to identify the relevant randomized controlled trials (RCTs) that investigated the effects of beta-glucan consumption in hypercholesterolemic subjects. Mean differences (MDs) and 95% confidence intervals (CIs) were calculated for net changes in lipid concentrations by using fixed-effects or random-effects models according to heterogeneity. Publication bias, sensitivity analysis and subgroup analyses were also performed. Seventeen eligible RCTs with 916 subjects were included in the meta-analysis. The pooled result showed that beta-glucan consumption in hypercholesterolemic population significantly lowered the total cholesterol (TC) (MD, -0.26 mmol/L; 95% CI, -0.33 to -0.18; P < 0.00001) and low-density lipoprotein (LDL)-cholesterol concentration (MD, -0.21 mmol/L; 95% CI, -0.27 to -0.14; P < 0.00001). However, there were no significant differences in high-density lipoprotein (HDL)-cholesterol, triglycerides (TG) and glucose. No adverse effects were reported among the eligible trials. CONCLUSION: Our meta-analysis showed that beta-glucan consumption significantly decreased TC and LDL-cholesterol concentrations but did not affect TG, HDL-cholesterol, and glucose concentrations in hypercholesterolemic subjects.
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Fibras de la Dieta/administración & dosificación , Hipercolesterolemia/sangre , Hipercolesterolemia/dietoterapia , beta-Glucanos/uso terapéutico , Avena/química , Glucemia/efectos de los fármacos , Colesterol/sangre , LDL-Colesterol/sangre , Femenino , Hordeum/química , Humanos , Lipoproteínas HDL/sangre , Masculino , Resultado del Tratamiento , Triglicéridos/sangre , beta-Glucanos/administración & dosificaciónRESUMEN
A previous experiment demonstrated that fibroin protein and chitosan mixed in proper proportion presented good physical and chemical properties and biological characteristics, which can make up for their respective disadvantages. To observe the growth of bone marrow mesenchymal stem cells (BMSCs) on these fibroin protein/chitosan 3D scaffolds, induced rabbit BMSCs were seeded on fibroin protein/chitosan scaffolds. The cell adhesion rate was measured, and cell growth was observed under an inverted microscope and a scanning electron microscope. The cell adhesion rate increased with time. The inverted microscope observations showed that the cells on fibroin protein/chitosan scaffolds could not be seen clearly. As time passed, the number of cells around the stent increased and some cells stretched inside the scaffolds. Electron microscopy showed active cell growth and normal proliferation, and the granular and filamentous matrix substances could be seen around cells. The microfilaments of cell and scaffold materials were tightly connected. The cells not only grew on the surface of the adherent material, but also stretched inside of the materials. These results indicated that the fibroin protein/ chitosan mixed scaffolds have good biocompatibility.
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Técnicas de Cultivo de Célula , Quitosano/química , Fibroínas/química , Células Madre Mesenquimatosas/citología , Andamios del Tejido/química , Animales , Adhesión Celular , Femenino , Masculino , Células Madre Mesenquimatosas/metabolismo , Células Madre Mesenquimatosas/ultraestructura , ConejosRESUMEN
OBJECTIVE: This study aims to evaluate the value of microbial rapid on-site evaluation (M-ROSE) of sepsis, and septic shock caused by pulmonary infection. PATIENTS AND METHODS: Thirty-six patients with sepsis and septic shock due to hospital-acquired pneumonia were analyzed. Accuracy and time were compared with M-ROSE, traditional culture, and next-generation sequencing (NGS). RESULTS: A total of 48 strains of bacteria and 8 strains of fungi were detected by bronchoscopy in 36 patients. The accuracy rate of bacteria and fungi was 95.8% and 100%, respectively. M-ROSE took an average of 0.34±0.01 hours, much faster than NGS (22h±0.01 h, p<0.0001) and traditional culture time (67.50±0.91 h, p<0.0001). CONCLUSIONS: M-ROSE may quickly identify common bacteria and fungi, so it may be a useful method for the etiological diagnosis of sepsis and septic shock caused by pulmonary infection.
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Neumonía , Sepsis , Choque Séptico , Humanos , Choque Séptico/microbiología , Evaluación in Situ Rápida , Sepsis/diagnóstico , Sepsis/microbiología , Neumonía/diagnóstico , Bacterias , Hongos , Estudios RetrospectivosRESUMEN
A DNA vaccine against the hepatitis B virus (HBV), enhanced by IL-2/IFN-γ fusion protein expression from a plasmid construct and mediated by in vivo electroporation, was evaluated in a total of 39 HBeAg-positive patients with chronic hepatitis B (CHB). The six of 39 patients with a serum alanine aminotransferase (ALT) value of 1-2 times upper limit of normal (ULN) were assigned to the open-label arm (Group01) receiving vaccine monotherapy; the remaining 33 patients with an ALT of more than two times ULN were enroled to the randomized and controlled arm (Group02) receiving lamivudine (LAM) monotherapy (LAM+placebo) or combined therapy (LAM+DNA vaccine) in 1:2 ratio. In Group01, a significant elevation of HBV-specific IFN-γ-secreting T-cell counts in comparison with baseline was observed. In Group02, the proportion of patients with HBV DNA suppression was higher with LAM+DNA vaccine than with LAM monotherapy at each visit time point after the final injection of DNA vaccine at week 36, revealing a significant difference between the two groups (P = 0.03) at week 60. The incidence of dual-site mutations of rtM204/I/S+rtL180M was significantly lower (P = 0.03) with an identified lower virological breakthrough (VBT) rate (P = 0.03) in patients receiving LAM+DNA vaccine than LAM monotherapy, accompanied with a significant higher positive T-cell response rate in patients receiving LAM+DNA vaccine (P = 0.03). In conclusion, this study provides evidence that HBV DNA vaccination is safe and immunologically effective, and that the HBV-specific T-cell responses induced by DNA vaccination under LAM chemotherapy showed a correlation with the suppression of viral replication in patients with CHB.
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Antivirales/administración & dosificación , Vacunas contra Hepatitis B/administración & dosificación , Hepatitis B Crónica/terapia , Lamivudine/administración & dosificación , Vacunas de ADN/administración & dosificación , Adolescente , Adulto , Alanina Transaminasa/sangre , Antivirales/efectos adversos , Quimioterapia/métodos , Electroporación , Femenino , Vacunas contra Hepatitis B/efectos adversos , Vacunas contra Hepatitis B/inmunología , Humanos , Inmunoterapia/métodos , Interferón gamma/metabolismo , Lamivudine/efectos adversos , Masculino , Persona de Mediana Edad , Placebos/administración & dosificación , Plásmidos , Linfocitos T/inmunología , Resultado del Tratamiento , Vacunas de ADN/efectos adversos , Vacunas de ADN/inmunología , Carga Viral , Adulto JovenRESUMEN
PURPOSE: To determine the accuracy of double contrast-enhanced ultrasound (DCEUS), in which intravenous microbubbles are used together with an oral contrast agent, in the preoperative T staging of advanced gastric cancer. MATERIALS AND METHODS: This prospective, ethics committee-approved study recruited 350 patients who gave informed consent. All had gastric cancer proved by endoscopic biopsy and underwent preoperative ultrasound staging using the TNM classification (UICC 2002). The results of DCEUS were compared with postoperative pathologic findings. The staging accuracy of oral contrast-enhanced ultrasound (OCEUS) and DCEUS were compared to each other. Sensitivity and specificity for assessing serosal involvement by DCEUS were evaluated, and the concordance of this method was analyzed using Kappa statistics. RESULTS: The accuracies of OCEUS and DCEUS in determining the T stage of advanced gastric cancer were 75.1â% (70.4â% for T2, 79.5â% for T3, 68.1â% for T4) and 87.4â% (83.3â% for T2, 89.7â% for T3, 87.2â% for T4), respectively, and the difference between the two methods was statistically significant (χ2â=â17.364, p<â0.001). The performance of DCEUS for staging lesions in the cardia (69.81â%), fundus (85.71â%) and body (85.56â%) had lower accuracy than that of other parts (93.94â% for antrum; 92.11â% for pylorus). Sensitivity and specificity for assessing serosal involvement by DCEUS were 98.76â% and 83.33â% respectively. The reliability was almost perfect with Kappa values of 0.89 (p<â0.001) for intra-observer and 0.82 (p<â0.001) for inter-observer agreement. CONCLUSION: DCEUS could be considered as an accurate, non-invasive, and reliable diagnostic method for preoperative staging of advanced gastric cancer.
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Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma/patología , Medios de Contraste/administración & dosificación , Aumento de la Imagen/métodos , Fosfolípidos , Neoplasias Gástricas/diagnóstico por imagen , Neoplasias Gástricas/patología , Hexafluoruro de Azufre , Adenocarcinoma/irrigación sanguínea , Adenocarcinoma/cirugía , Administración Oral , Anciano , Biopsia , Femenino , Gastroscopía , Humanos , Inyecciones Intravenosas , Masculino , Microburbujas , Persona de Mediana Edad , Estadificación de Neoplasias , Neovascularización Patológica/diagnóstico por imagen , Neovascularización Patológica/patología , Neovascularización Patológica/cirugía , Sensibilidad y Especificidad , Estómago/irrigación sanguínea , Estómago/diagnóstico por imagen , Estómago/patología , Estómago/cirugía , Neoplasias Gástricas/irrigación sanguínea , Neoplasias Gástricas/cirugía , UltrasonografíaRESUMEN
To set the cultivation goal with adaptation to rural order-oriented medical students, the teaching mode of Human Parasitology was reformed in the context of curriculum ideological and political education. The new teaching mode not only enables students to harvest medical knowledge during the school education stage, but also plays a guiding role in cultivation of humanistic qualities and professional spirit, which provides a basis for cultivating general practitioners serving for grassroots healthcare.
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Estudiantes de Medicina , Curriculum , Humanos , Parasitología/educación , Política , EnseñanzaRESUMEN
OBJECTIVE: To investigate the expression of micro ribonucleic acid miR-518b and its regulatory role in the pathogenesis of placenta accreta. PATIENTS AND METHODS: A total of 50 parturient women in the Obstetric Department were collected and divided into observation group (placenta accreta, n=23) and control group (normal placenta, n=27). After the placental tissues were removed via surgery, the expressions of osteopontin (OPN) and vascular endothelial growth factor (VEGF) were detected using the immunohistochemical method. The relative expression levels of OPN and VEGF proteins were detected via Western blotting, and the relative expression levels of OPN messenger RNA (mRNA), VEGF mRNA and miR-518b were detected via quantitative polymerase chain reaction (qPCR). Moreover, the correlations of miR-518b with OPN mRNA and VEGF mRNA were studied via Pearson correlation analysis. RESULTS: Compared with those in control group, the expressions of OPN and VEGF proteins in observation group were significantly increased, while the levels of OPN mRNA, VEGF mRNA and miR-518b in observation group were also significantly elevated (p<0.05). There were positive correlations between miR-518b and levels of OPN, VEGF mRNA. CONCLUSIONS: The high expression of miR-518b may lead to the development of placenta accreta through upregulating the transcription and protein expression of downstream VEGF and OPN, providing insights for the future therapy against the pathogenesis of placenta accreta.
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MicroARNs/metabolismo , Osteopontina/genética , Placenta Accreta/genética , Placenta/patología , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Estudios de Casos y Controles , Femenino , Perfilación de la Expresión Génica , Humanos , Osteopontina/metabolismo , Placenta Accreta/diagnóstico , Placenta Accreta/patología , Embarazo , ARN Mensajero/metabolismo , Regulación hacia Arriba , Factor A de Crecimiento Endotelial Vascular/metabolismoRESUMEN
In order to simulate the hemodynamic environment of human arteries in vivo, we designed a laminar flow apparatus which can precisely simulate the normal stress and shear stress to which cultured endothelial cells are exposed. Under both normal and abnormal physiological conditions, this apparatus can accurately control and adjust the values of normal stress and shear stress and the frequency of pulse waves, as well as the amplitude of pulsatile flow. This in vitro apparatus provides an experimental platform for studying the response of the biological characteristics of cultured endothelial cells in a hemodynamic environment.
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Técnicas de Cultivo de Célula/instrumentación , Células Endoteliales/citología , Células Endoteliales/fisiología , Mecanotransducción Celular/fisiología , Técnicas Analíticas Microfluídicas/instrumentación , Estimulación Física/instrumentación , Transductores , Velocidad del Flujo Sanguíneo/fisiología , Presión Sanguínea/fisiología , Técnicas de Cultivo de Célula/métodos , Células Cultivadas , Diseño de Equipo , Análisis de Falla de Equipo , Humanos , Técnicas Analíticas Microfluídicas/métodos , Estimulación Física/métodos , Flujo Pulsátil/fisiología , Resistencia al Corte , Estrés MecánicoRESUMEN
To determine the difference of cellular immunity between a Qigong trainee group and a normal healthy group, skin tests for delayed cutaneous hypersensitivity (DCH) were carried out with ubiquitous seven antigens. The maximal antigen response time was faster in Qigong trainee group (24 hr) and the response antigen number was also higher in the Qigong trainee group (6 antigens) than in normal healthy person (48 hr and 4 antigens). Qigong trainee also had a larger induration diameter (5.14 mm) than normal healthy person (3.79 mm) at 24 hr. Our results represent the difference in cell mediated immunity (CMI) between Qigong trainees and normal healthy subjects.
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Ejercicios Respiratorios , Hipersensibilidad , Inmunidad Celular , Adulto , Humanos , Inmunidad , Persona de Mediana Edad , Pruebas Cutáneas , Factores de Tiempo , VoluntariosRESUMEN
The determination of beta-phenyllactic acid (PLA) in rat plasma by derivatization capillary gas chromatography is described. Quantitation was affected by 63Ni-electron capture detector after separation with a SE-54 quartz capillary chromatographic column. Calibration curves were linear within the range of 1.6-9.6 micrograms.ml-1. The limit of detection of PLA was considered to be 0.5 microgram.ml-1. PLA was extracted from plasma with ethyl acetate (rat plasma 0.1 ml). The recovery from plasma was high and the mean value was 98.11 +/- 3.81 (s)%, their within day and between day relative standard deviations were 5.13% and 5.99% respectively.
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Lactatos/sangre , Animales , Cromatografía de Gases/métodos , RatasRESUMEN
The effects of polydatin on endotoxin-induced acute lung injury were studied in rats. The lung injury was induced by infusion of inactivated E. coli 30 min after MPS blockade with red cell membrane. It was found that pretreatment with polydatin resulted in marked reduction of lung wet-to-dry weight ratio, lung permeability index (LPI), neutrophil count in BALF and hemoconcentration. The elevation of lung tissue MDA and the decrease in plasma GSH-Px activity were greatly improved with polydatin. There was significant correlation between LPI and lung MDA level (r = 0.741, P < 0.01). Postmortem examination revealed that polydatin attenuated the histopathological changes. We conclude that polydatin protectsral against endotoxin-induced acute lung injury.
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Medicamentos Herbarios Chinos/uso terapéutico , Glucósidos/uso terapéutico , Síndrome de Dificultad Respiratoria/prevención & control , Estilbenos/uso terapéutico , Animales , Medicamentos Herbarios Chinos/química , Endotoxinas , Escherichia coli , Femenino , Glucósidos/aislamiento & purificación , Pulmón/metabolismo , Pulmón/patología , Masculino , Ratas , Ratas Sprague-Dawley , Síndrome de Dificultad Respiratoria/inducido químicamente , Síndrome de Dificultad Respiratoria/metabolismo , Estilbenos/aislamiento & purificaciónRESUMEN
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead to loss of vision. Optic atrophy has both congenital and acquired causes, and its diagnosis (or differential diagnosis) is complicated. This case report describes a 20-year-old man who presented with a 1-year history of progressive vision loss in both eyes and no obvious systemic symptoms. Fundus examination revealed bilateral optic atrophy. Based on clinical characteristics, visual field analysis and pattern visual evoked potential examination, the presumptive diagnosis was Leber hereditary optic neuropathy (LHON). Analysis of mitochondrial DNA indicated the absence of all of three common mutations associated with LHON (m.3460G>A, m.11778G>A, m.14484T>C). Detailed questioning of the patient revealed a history of prolonged language development and poor balance. Neurological examination indicated abnormal co-ordination, suggesting the presence of inherited spinocerebellar ataxia (SCA). Analysis of the SCA7 gene revealed a high number of trinucleotide repeats [(CAG)(n), n > 64], confirming the diagnosis of SCA. The aetiology of optic atrophies is complicated and the molecular genetic detection approach provides the best information for diagnosing these diseases.