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2.
Zhonghua Nan Ke Xue ; 23(4): 353-360, 2017 Apr.
Artículo en Zh | MEDLINE | ID: mdl-29714422

RESUMEN

OBJECTIVE: To explore the effects of Kudzu Root plus Cinnamon Granules (KR+C) on prostatic hyperplasia (PH) in mice. METHODS: Sixty 4-week-old Kunming male mice were randomly divided into six groups: blank control, PH model, high-, medium- and low-dose KR+C, and finasteride control. All the mice except those in the blank control group were subcutaneously injected with testosterone propionate (5 mg / ï¼»kg·dï¼½) at 7 days after surgical castration. The animals of different groups were treated intragastrically with different doses of KR+C, finasteride, and normal saline respectively for 3 weeks and then sacrificed for weighing of the prostate, calculation of the prostatic index, observation of the morphological changes in the prostate after HE staining, determination of the expressions of FGF2, Ki67 and TGF-ß1 by immunohistochemistry, detection of 5α-reductase activity by ELISA, and measurement of the apoptosis index of the prostatic cells by TUNEL. RESULTS: Compared with the model controls, the mice of the other groups showed significantly reduced prostatic volume (P <0.05), prostatic index (P <0.05), expressions of FGF2, Ki67 and TGF-ß1, and activity of 5 α-reductase (P <0.05), but remarkably increased apoptosis index of the prostatic cells (P <0.05). However, no statistically significant differences were observed in the above parameters between the finasteride control and the three KR+C groups (P>0.05). CONCLUSIONS: KR+C can reduce the prostatic volume of PH mice by decreasing the activity of 5α- reductase, inhibiting the expressions of FGF2, Ki67 and TGF-ß1, and promoting the apoptosis of prostatic cells.


Asunto(s)
Cinnamomum zeylanicum/química , Fitoterapia/métodos , Raíces de Plantas/química , Hiperplasia Prostática/tratamiento farmacológico , Pueraria/química , Animales , Apoptosis , Colestenona 5 alfa-Reductasa/metabolismo , Factor 2 de Crecimiento de Fibroblastos/metabolismo , Finasterida/uso terapéutico , Etiquetado Corte-Fin in Situ , Antígeno Ki-67/metabolismo , Masculino , Ratones , Tamaño de los Órganos , Próstata/patología , Hiperplasia Prostática/metabolismo , Hiperplasia Prostática/patología , Distribución Aleatoria , Propionato de Testosterona/administración & dosificación , Factor de Crecimiento Transformador beta1/metabolismo , Agentes Urológicos/uso terapéutico
3.
Kidney Blood Press Res ; 41(6): 986-996, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27988515

RESUMEN

BACKGROUND/AIMS: Cognitive impairment and abnormal structural neuroimaging is common in chronic kidney disease patients. We aimed to explore its association with dialysis modality and the relationship between cognitive impairment and abnormal structural neuroimaging. METHODS: Sixty peritoneal dialysis patients and 30 hemodialysis and 30 non-dialyzed stage 3-5 chronic kidney disease patients without history of stroke were enrolled for the study. Participants were matched for age, gender, education, diabetes status, and dialysis duration (if appropriate). Cognitive functions were measured using a battery of recognized instruments. Brain features were examined with 3-dimensional magnetic resonance imaging. RESULTS: Cognitive impairment was significantly more severe in dialysis patients than in non-dialyzed patients. The global and specific cognitive function were not significantly different between patients on peritoneal dialysis and hemodialysis. Hemodialysis patients had more severe white matter hyperintensity, sulcal and ventricular atrophy, and SVIs than other patients. In all groups, higher white matter grade, ventricular grade, and hippocampal atrophy were significantly associated with global cognitive impairment, with hazard ratios of 1.80 (1.22-2.64), 1.67 (1.09-2.57), and 2.49 (1.07-5.77), respectively. White matter grade was also significantly associated with delayed memory (hazard ratio 1.63; 1.12-2.39). CONCLUSION: Dialysis modality showed no association with cognitive impairment, although hemodialysis patients had more severe neuroimaging abnormalities. For the whole group, white matter hyperintensity, and ventricular and hippocampal atrophy, were independently associated with global cognitive impairment in chronic kidney disease patients.


Asunto(s)
Disfunción Cognitiva/etiología , Neuroimagen/métodos , Diálisis Renal/efectos adversos , Insuficiencia Renal Crónica/complicaciones , Anciano , Atrofia/diagnóstico por imagen , Encéfalo/anomalías , Disfunción Cognitiva/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Insuficiencia Renal Crónica/terapia
4.
Chemosphere ; 337: 139355, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37385485

RESUMEN

In this study, the effect of iron-loaded sludge biochar (ISBC) with different amendment dosages (mass ratio of biochar to soil equal to 0, 0.01, 0.025 and 0.05) on the phytoremediation potential of Leersia hexandra swartz (L. hexandra) to Cr-contaminated soil was investigated. With increasing ISBC dosage from 0 to 0.05, plant height, aerial tissue biomass and root biomass increased from 15.70 cm, 0.152 g pot-1 and 0.058 g pot-1 to 24.33 cm, 0.304 g pot-1 and 0.125 g pot-1, respectively. Simultaneously, the Cr contents in aerial tissues and roots increased from 1039.68 mg kg-1 to 2427.87 mg kg-1 to 1526.57 mg kg-1 and 3242.62 mg kg-1, respectively. Thus, the corresponding bioenrichment factor (BCF), bioaccumulation factor (BAF), total phytoextraction (TPE) and translocation factor (TF) values were also increased from 10.52, 6.20, 0.158 mg pot-1 (aerial tissue)/0.140 mg pot-1 (roots) and 0.428 to 15.15, 9.42, 0.464 mg pot-1 (aerial tissue)/0.405 mg pot-1 (roots) and 0.471, respectively. The significant positive effect of ISBC amendment was primarily attributed to the following three aspects: 1) the root resistance index (RRI), tolerance index (TI) and growth toxicity index (GTI) of L. hexandra to Cr were increased from 100%, 100% and 0%-216.88%, 155.02% and 42.18%, respectively; 2) the bio-available Cr content in the soil was decreased from 1.89 mg L-1 to 1.48 mg L-1, while the corresponding TU (toxicity units) value was declined from 0.303 to 0.217; 3) the activities of urease, sucrase and alkaline phosphatase in soil were increased from 0.186 mg g-1, 1.40 mg g-1 and 0.156 mg g-1 to 0.242 mg g-1, 1.86 mg g-1 and 0.287 mg g-1, respectively. In summary, ISBC amendment was able to significantly improve the phytoremediation of Cr-contaminated soils by L. hexandra.


Asunto(s)
Hierro , Contaminantes del Suelo , Cromo , Aguas del Alcantarillado , Biodegradación Ambiental , Poaceae , Suelo
5.
Beijing Da Xue Xue Bao Yi Xue Ban ; 44(2): 265-9, 2012 Apr 18.
Artículo en Zh | MEDLINE | ID: mdl-22517001

RESUMEN

OBJECTIVE: To analyze the clinical features and imaging manifestations of retroperitoneal fibrosis (RPF) for improving clinical diagnosis and treatment. METHODS: The medical records of 32 cases from Jul. 2009 to Dec. 2011 with definite diagnosis of RPF were reviewed retrospectively, and the fibro-inflammatory tissue in CT/MRI imagings were classified and measured. The clinical symptoms, the acute phase reactants, kidney function, and radiological imaging,with or without double-J ureteral stenting were observed and compared between prior and post medications and their correlations were also analysed. RESULTS: The average age at onset was 60 years, ranging from 30-78, with male-to-female ratio of 1.91:1. Among these 32 cases, the most common presenting manifestations included abdominal pain, abdominal distension, lumbago, loss of body weight, and pitting edema of lower extremities. Hydronephrosis was found by colour doppler untrasonography in 26 (81.25%) patients. RPF was confirmed by typical CT/MRI imagings in all the patients. All of the patients in our study were treated with corticosteroids and in combination with tamoxifen or immunosuppressive agents in most of the patients, of whom 18 patients were followed up for an average of 14 months. After drug therapy, the patients' symptoms were relieved, ESR and CRP droped, renal function improved, and the size of RPF reflected in CT/MRI imagings became smaller significantly. The average time of removal double-J ureteral stenting was 13.1 months and the extubated rate was 80%. The correlation coefficients between changes of ESR or CRP and transverse diameter in CT/MRI imagings were 0.50 or 0.66 (P<0.05) respectively. CONCLUSION: The presenting manifestations of RPF were nonspecific. However, it is extremely important to recognize RPF, because early drug therapy could alleviate symptoms and reduce the acute phase reactants, improve renal function and improve imaging and extubated rate. When compared with the changes between prior and post medications, changes of ESR and CRP had good correlations with CT/MRI imaging changes respectively.


Asunto(s)
Fibrosis Retroperitoneal/diagnóstico , Corticoesteroides/administración & dosificación , Adulto , Anciano , Quimioterapia Combinada , Femenino , Humanos , Inmunosupresores/administración & dosificación , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pronóstico , Fibrosis Retroperitoneal/tratamiento farmacológico , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
6.
Chemosphere ; 286(Pt 1): 131552, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34320440

RESUMEN

Bioaugmented biotrickling filter (BTF) seeded with Piscinibacter caeni MQ-18, Pseudomonas oleovorans DT4, and activated sludge was established to investigate the treatment performance and biodegradation kinetics of the gaseous mixtures of tetrahydrofuran (THF) and methyl tert-butyl ether (MTBE). Experimental results showed an enhanced startup performance with a startup period of 9 d in bioaugmented BTF (25 d in control BTF seeded with activated sludge). The interaction parameter I2,1 of control (7.462) and bioaugmented BTF (3.267) obtained by the elimination capacity-sum kinetics with interaction parameter (EC-SKIP) model indicated that THF has a stronger inhibition of MTBE biodegradation in the control BTF than in the bioaugmented BTF. Similarly, the self-inhibition EC-SKIP model quantified the positive effects of MTBE on THF biodegradation, as well as the negative effects of THF on MTBE biodegradation and the self-inhibition of MTBE and THF. Metabolic intermediate analysis, real-time quantitative polymerase chain reaction, biofilm-biomass determination, and high-throughput sequencing revealed the possible mechanism of the enhanced treatment performance and biodegradation interactions of MTBE and THF.


Asunto(s)
Éteres Metílicos , Pseudomonas oleovorans , Biodegradación Ambiental , Burkholderiales , Furanos , Éteres Metílicos/análisis
7.
Yi Chuan ; 31(6): 638-44, 2009 Jun.
Artículo en Zh | MEDLINE | ID: mdl-19586865

RESUMEN

In order to get Ht1 candidate sequence(s), bioinformatics method was employed to analyze sequences between two flanking markers umc22a and umc122a linked with Ht1. Sixty-three open reading frame (ORF) sequences were found, fourteen of which encoded protein domains. The amino acid sequences encoded by these ORF sequences were blasted with the 24 cloned resistance gene amino acid sequences, and a phylogenetic tree was constructed. Among the fourteen ORF sequences, gpm565a with nucleotide binding site (NBS), containing a lot of random coils, had both high identity and close relationship with Xal resistant to bacterial blight, and was predicted to be related with Ht1. The remaining thirteen ORF sequences had no enough evidence to show any relationships with Ht1 due to lack of conserved domains, low identity or distant relationships.


Asunto(s)
Ascomicetos/patogenicidad , Biología Computacional/métodos , Genes de Plantas/fisiología , Inmunidad Innata/genética , Enfermedades de las Plantas/genética , Zea mays/genética , Región de Flanqueo 3'/genética , Región de Flanqueo 5'/genética , Ascomicetos/clasificación , Ascomicetos/genética , Biomarcadores/análisis , Clonación Molecular , Secuencia Conservada/fisiología , ADN de Plantas/análisis , Evolución Molecular , Datos de Secuencia Molecular , Sistemas de Lectura Abierta , Enfermedades de las Plantas/microbiología , Zea mays/microbiología
8.
Int J Pharm ; 354(1-2): 217-26, 2008 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-18191350

RESUMEN

The objectives of this study were to describe the pharmacokinetics and tissue distribution of superparamagnetic iron oxide nanoparticle (SPIO) stabilized with alginate (SPIO-alginate), and investigate its potential in detecting liver cancers as a newly developed magnetic resonance (MR) contrast agent. Pharmacokinetics and tissue distribution of SPIO-alginate were investigated in Sprague-Dawley rats. The results showed that SPIO-alginate was eliminated rapidly from serum with the half-life of 0.27 h at 109.5 micromol Fe/kg and accumulated dominantly in liver and spleen with a total percentage of more than 90% of dose after intravenous injection. The studies of pharmacokinetics and distribution of SPIO-alginate in rats indicated the MR contrast agent, based on SPIO, mainly accumulating in targeting organs that contain phagocytosing cells, i.e. liver and spleen. The efficacies in detecting hepatocellular carcinoma (HCC) of rat with primary liver cancer and xenograft liver cancers of rabbit were investigated before and after injection of SPIO-alginate. The signal intensity of liver parenchyma in rabbit with VX2 tumor after injection of SPIO-alginate was reduced sharply resulting in a significant contrast between liver parenchyma and tumor. Detection of the HCC in rat model was also demonstrated. The present study provides evidence that SPIO-alginate might have the ability to improve the detection of liver tumors as an MR contrast agent, and the efficacy is associated with the SPIO specifically located in Kupffer cells in hepatic sinusoid.


Asunto(s)
Alginatos/química , Compuestos Férricos/farmacocinética , Neoplasias Hepáticas Experimentales/diagnóstico , Imagen por Resonancia Magnética/métodos , Animales , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/metabolismo , Medios de Contraste/química , Medios de Contraste/farmacocinética , Compuestos Férricos/química , Ácido Glucurónico/química , Semivida , Ácidos Hexurónicos/química , Inyecciones Intravenosas , Macrófagos del Hígado/metabolismo , Hígado/metabolismo , Neoplasias Hepáticas Experimentales/metabolismo , Masculino , Nanopartículas , Conejos , Ratas , Ratas Sprague-Dawley , Bazo/metabolismo , Distribución Tisular , Ensayos Antitumor por Modelo de Xenoinjerto
9.
Zhonghua Yi Xue Za Zhi ; 88(46): 3250-3, 2008 Dec 16.
Artículo en Zh | MEDLINE | ID: mdl-19159547

RESUMEN

OBJECTIVE: To identify a better non-invasive method to detect the carrier of mitochondrial A3243G mutation, a cause of mitochondrial encephalopathy-lactic acidosis-stroke like episode (MELAS) syndrome. METHODS: DNA was extracted from the peripheral blood, urine, hair follicle, and saliva of 25 MELAS syndrome patients carrying A3243G mutation and their mothers and other maternal relatives, 33 persons in number, and the muscle tissues from 5 patients obtained by biopsy. A3243G mutation was detected by PCR-RFLP method, and the A3243G mutation ratio was identified by measuring the density of each band and calculation with the software AlphaEase 5.0. RESULTS: A3243G mutations were detected in all tissues of the 25 MELAS patients. The A3243G mutation ratio in urine was 62% +/- 9%, significantly higher than that in the blood [(36% +/- 10%), t = -11.13, P < 0.01]. A3243G mutations were detected in at least one tissue of the 28 maternal relatives. The A3243G mutation rates in their urine samples was 33.0% (5.0% - 70.4%), significantly higher than that in their blood samples [8.0% (0 - 33.3%), z = -4.197, P < 0.01]. There was no significant difference in A3243G mutation ratio among the samples of hair follicle, saliva, and blood. CONCLUSION: The A3243G mutation ratio in urine is significantly higher than those in blood samples of the patients and their maternal relatives. A noninvasive method, A3243G mutation ratio analysis of urine is superior to that in blood.


Asunto(s)
ADN Mitocondrial/genética , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Síndrome MELAS/orina , Masculino , Persona de Mediana Edad , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción
10.
Bioresour Technol ; 257: 7-16, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29477663

RESUMEN

Sludge reduction based on regulating substrate allocation between catabolism and anabolism as a strategy is proposed to reduce energy and chemicals consumption during wastewater treatment. The results indicated that a sludge reduction of 14.8% and excellent nutrient removal were simultaneously achieved in the low dissolved oxygen (LDO) activated sludge system with a hydraulic retention time of 24 h at 25 °C. Denitrifiers comprised nearly 1/4 of all microorganisms in the system. These denitrifiers converted NOx- to N2 obtaining a lower biomass yield. The oxidoreductase activity proteins in the LDO sample was more than twice that of the normal DO sample, indicating that catabolism was stimulated by NOx- when replacing O2 as electron acceptor. Less substrate was used for cell synthesis in the LDO system. Stable sludge reduction without extra energy and chemicals inputs was achieved by regulating the substrate allocation by inducing the bacteria to utilize NOx- instead of O2.


Asunto(s)
Reactores Biológicos , Aguas del Alcantarillado , Electrones , Nitritos , Oxígeno , Eliminación de Residuos Líquidos
11.
Sci Rep ; 6: 38038, 2016 11 29.
Artículo en Inglés | MEDLINE | ID: mdl-27897264

RESUMEN

We conducted a meta-analysis of analytic and observational studies to evaluate the association between smoking and epiretinal membrane (ERM). The pertinent studies were identified via a literature search using three databases (MEDLINE, Cochrane Library, Embase) and the reference lists of retrieved studies. Cohort, case-control and cross-sectional studies meeting the predefined criteria were included. We extracted the odds ratios (OR) and 95% confidence intervals (CI) from each study. Overall risk estimates were pooled using random-effects models. Subgroup analyses based on several stratified factors were also performed. Two cohort studies and six cross-sectional studies involving 46,837 subjects were included. The pooled effect of all eight studies showed an unexpected significant decreased association between smoking and the occurrence of ERM (OR, 0.72; 95% CI 0.61-0.84; p = 0.29, I2 = 17.9%). Subgroup analyses supported this finding, except for the age-unadjusted group (OR, 0.87; 95% CI 0.63-1.22), the ERM classification group (cellophane macular reflex (CMR) OR, 0.93; 95% CI 0.68-1.28; preretinal macular fibrosis (PMF) OR, 0.74; 95% CI 0.41-1.32), the Asian group (OR, 0.75; 95% CI 0.52-1.09) and the past smoker group (OR, 1.02; 95% CI 0.85-1.22). The pooled effects from the current literature suggested a declining association between smoking and ERM, which requires further studies to confirm.


Asunto(s)
Membrana Epirretinal/epidemiología , Membrana Epirretinal/etiología , Fumar/efectos adversos , Fumar/epidemiología , Pueblo Asiatico , Femenino , Humanos , Masculino , Factores de Riesgo
12.
J Plant Physiol ; 162(6): 686-96, 2005 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16008091

RESUMEN

Data mining the complete rice genome sequences revealed a genomic fragment encoding a characteristic metallothionein (MT) protein, and its full-length cDNA was isolated from rice developing seeds by RT-PCR. This cDNA, designated OsMT-II-1a, contains an open reading frame of 264 bp encoding a protein of 87 amino acid residues. The predicted amino acid sequence was shown to have structural features characteristic of plant class II MT proteins. By sequence analysis of its 5'-flanking region, one putative TATA box, four putative CAAT boxes, and several short sequences homologous to previously reported regulatory cis-elements were identified. Northern blot analysis showed that accumulation of OsMT-II-1a mRNA is specifically abundant in developing seeds and 2-day glumes after pollination, and OsMT-II-1a transcription can markedly be induced by H2O2, paraquat, SNP, ethephon, ABA and SA, but barely by metal ions or other exogenous abiotic factors such as low temperature and PEG. These results coincide with the prediction of existing regulatory cis-elements in its 5'-flanking region. Taken together, the above results suggest that the processes of pollination and seed development might be mediated, at least in part, by expression of the OsMT-II-1a gene that is regulated by several abiotic factors.


Asunto(s)
Regulación de la Expresión Génica de las Plantas/fisiología , Metalotioneína/biosíntesis , Oryza/metabolismo , Secuencia de Aminoácidos , Mapeo Cromosómico , Cromosomas de las Plantas , Metalotioneína/genética , Datos de Secuencia Molecular , Oryza/genética , Filogenia , Hojas de la Planta/metabolismo , Raíces de Plantas/metabolismo , Tallos de la Planta/metabolismo , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Factores de Tiempo
13.
Zhonghua Yi Xue Za Zhi ; 85(10): 663-6, 2005 Mar 16.
Artículo en Zh | MEDLINE | ID: mdl-15932727

RESUMEN

OBJECTIVE: To investigate the possible association of familial febrile convulsions with HCN2 gene. METHODS: PCR was conducted on the DNA of peripheral blood white cells from 60 children with familial febrile convulsion (FC) of Han nationality population in northern China aged 1.5 +/- 1.0 (8 months to 5 years old), to amplify the exons of HCN2 gene. The PCR products underwent sequencing to identify the possible mutations. 101 normal children from the same area were used as controls. RESULTS: No mutation was found in the exons of HCN2 gene, however, 14 single nucleotide polymorphisms (SNPs) were found among which there were 8 newly identified SNPs. Using 9 SNPs as markers, association study was conducted between the FC group and control group. There were no significant differences in allele frequencies and genotype frequencies of the 9 SNPs between the FC group and control group. CONCLUSION: HCN2 may not be a susceptibility gene for FC in Chinese population.


Asunto(s)
Canales Iónicos/genética , Mutación , Convulsiones Febriles/genética , Alelos , Preescolar , Exones , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Canales Regulados por Nucleótidos Cíclicos Activados por Hiperpolarización , Lactante , Canales Iónicos/biosíntesis , Masculino , Polimorfismo de Nucleótido Simple , Canales de Potasio
14.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 27(1): 77-80, 2005 Feb.
Artículo en Zh | MEDLINE | ID: mdl-15782498

RESUMEN

OBJECTIVE: To discuss the clinical characteristics associated with mitochondrial DNA A3243G mutation. METHODS: Clinical manifestations as well as results of brain CT and/or MRI scanning, blood level of lactic acid and muscle biopsy results of 25 mitochondrial encephalomyopathies patients whose A3243G mutations were analyzed. RESULTS: Although all of the 25 patients carried mtDNA A3243G point mutation, their clinical manifestations varied greatly. Among them, there were 19 cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), 2 cases of encephalopathies which could not be classified into any specific type, 2 cases of floppy infants, one case of Kearns-Sayer syndrome (KSS) and one case of mitochondrial entero-myopathy. Most patients showed abnormal cranial radiological findings and ragged-red-fibers on muscle biopsies. Elevation of blood lactic acid was notably found in all of the 25 patients. CONCLUSIONS: Significant variations in clinical manifestation and brain images are the prominent features in patients with A3243G mutation. Mitochondrial diseases should be considered in patients with multiple organ involvement and elevated serum lactic acid mtDNA mutation examination is necessary for the diagnosis of mitochondrial diseases.


Asunto(s)
ADN Mitocondrial/genética , Síndrome MELAS/genética , Encefalomiopatías Mitocondriales/genética , Mutación Puntual , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Síndrome de Kearns-Sayre/sangre , Síndrome de Kearns-Sayre/genética , Ácido Láctico/sangre , Síndrome MELAS/sangre , Masculino , Encefalomiopatías Mitocondriales/sangre , Hipotonía Muscular/sangre , Hipotonía Muscular/genética , Fenotipo
15.
Neurosci Lett ; 599: 120-4, 2015 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-25986899

RESUMEN

A number of studies have investigated the association between Parkinson's disease (PD) and genetic polymorphisms of bone marrow stromal cell antigen 1 (BST-1). However, the results to date have been conflicting. In this study a meta-analysis was performed to assess the association between BST-1 polymorphisms and PD. Previous relevant studies were identified from Medline, Embase and Cochrane databases, among which the studies evaluating the association of BST-1 polymorphisms with risk of PD were used in the meta-analysis. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were determined for different genetic models using meta-analytic methods. Subgroup analysis was performed based on study designs and participant ethnicity, and sensitivity analysis was also performed. Eleven studies comprising 11,070 cases and 19,169 controls were included in this meta-analysis. ORs and 95% CIs were used to assess the strength of association. The rs4698412 variant (G→A) showed a significant summary OR of 1.12 (95% CI: 1.05-1.20; P=0.001) in an allelic model. This significant association was also observed in the subgroup analysis based on participants' ethnicity and study designs. The pooled OR of the rs11724635 variant (C→A) indicated a non-significant association with PD in a recessive model (OR, 1.16, 95% CI: 0.97-1.40; P=0.112), dominant model (OR, 1.10, 95% CI: 0.86-1.41; P=0.458) and allelic model (OR, 1.10, 95% CI: 0.95-1.27; P=0.224). Although the rs11931532 variant (T→C) did not show association with PD (OR, 0.99, 95% CI: 0.85-1.15; P=0.9), the pooled estimation of genome-wide association studies (GWAS) showed a significant connection with PD (OR, 1.19, 95% CI: 1.08-1.31; P=0.001). Sensitivity analysis supported these findings, and no evidence of publication bias was observed in the meta-analysis. Our studies suggested that the rs4698412 variant of BST-1 may increase the PD susceptibility.


Asunto(s)
ADP-Ribosil Ciclasa/genética , Antígenos CD/genética , Enfermedad de Parkinson/genética , Proteínas Ligadas a GPI/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo de Nucleótido Simple
16.
World J Gastroenterol ; 8(2): 263-6, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11925604

RESUMEN

AIM: To analyze the diagnosis and treatment of 16 hereditary nonpolyposis colorectal cancer (HNPCC) kindreds, and to report the first kindred with hMLH1 germline mutation in Mainland China. METHODS: The diagnosis, treatment and follow-up study of 16 HNPCC kindreds were retrospectively reviewed. Data concerning site of the malignant tumor, age at the diagnosis, history of synchronous and/or metachronous cancer, and histopathology of tumors were recorded. All treatments had won formal consent. PCR and SSCP were used to screen the coding region of hMLH1 and hMSH2 genes. Variant bands were sequenced by a 377 DNA sequencer. RESULTS: Among sixteen kindreds, sixty-eight patients had a mean age of 50.8 years, including twenty-one multiple cancer patients and forty-six colorectal cancer patients (metachronous colorectal cancers in sixteen). A total of one hundred and one malignant neoplasms were found in these sixty-eight patients, including 50 colonic, 17 rectal, 11 gastric, 7 endometrial, and 4 esophageal cancers. 39.5% colorectal patients had metachronous cancers within ten years who needed reoperations. A germline G265T nonsense mutation was found in the third exon of hMLH1, resulting in a stop codon and truncated protein. Three phenotypically normal family members were also found to carry the mutated gene. CONCLUSION: HNPCC is a typical auto-dominant hereditary disease, the main characteristics include early onset and frequency of cancers; predominance of colorectal, especially right-sided colon cancers; frequency of multiple primary cancers (especially colorectal cancers). Segmental resection for colorectal cancers is not eligible for colorectal cancer patient in HNPCC kindreds. Intensive follow-up is essential for all patients and possible gene carriers. The first HNPCC kindred with hMLH1 gene germline mutation was identified in Mainland China, and three phenotypically normal family members were found to be carriers of the mutated gene. The G265T germline (nonsense) mutation in the third exon of hMLH1 found here had not been reported previously in the literature.


Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Mutación de Línea Germinal , Proteínas de Neoplasias/genética , Proteínas Adaptadoras Transductoras de Señales , Disparidad de Par Base , Proteínas Portadoras , China , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Reparación del ADN , Humanos , Persona de Mediana Edad , Homólogo 1 de la Proteína MutL , Proteínas Nucleares , Linaje
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 21(4): 347-50, 2004 Aug.
Artículo en Zh | MEDLINE | ID: mdl-15300631

RESUMEN

OBJECTIVE: To investigate the association between single nucleotide polymorphisms (SNPs) of casein kinase I gamma 2 (CSNK1G2) gene and children with familial febrile convulsions. METHODS: The study samples were collected from unrelated Chinese Han population of Hebei province, including a cohort of 53 children with familial febrile convulsions(FC) and a control cohort of 101 individuals. Genotypes of SNPs rs2074882, rs740423, rs2277737, rs4806825, rs1059684 were typed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The frequencies of the five SNPs complied well with the Hardy-Weinberg equilibrium in FC group and normal group. The distribution of genotype and frequencies of alleles of the SNPs rs740423, rs2277737, rs1059684 in familial febrile convulsions group was significantly different from that in control group. No significant difference was observed in the distribution of genotypes and frequencies of alleles at SNP rs2074882 between two groups. Analysis on rs4806825 was not made owing to its less allele frequency. CONCLUSION: These data indicate that SNPs rs740423, rs2277737, rs1059684 of CSNK1G2 gene may contribute to familial febrile convulsions in children.


Asunto(s)
Quinasa de la Caseína I/genética , Polimorfismo de Nucleótido Simple , Convulsiones Febriles/genética , Preescolar , Salud de la Familia , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Lactante , Desequilibrio de Ligamiento , Masculino , Reacción en Cadena de la Polimerasa
18.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 25(2): 153-5, 2003 Apr.
Artículo en Zh | MEDLINE | ID: mdl-12905709

RESUMEN

OBJECTIVE: To find a simple, fast, accurate, and quantitative PCR-based method for mutation detection, so as to identify mitochondrial DNA 11778 G-->A point mutation in patients with Leber's hereditary optic neuropathy (LHON). METHOD: On the basis of sequencing of mtDNA from LHON proband, M primer for mutation and N primer for normal were designed to be coupled with reverse primer respectively. Specific PCRs were done on an amplifying condition with high stringency such as a well controlled annealing temperature, low Mg2+ concentration and less thermal cycles. The objective pedigree includes 10 individuals, were against 40 normal control persons. RESULTS: Different ratios of indicative mtDNA 11778A-->G mutation were checked out from the proband, affected maternal members and a 10 year-old boy (up to now no appearance yet), whereas not appeared on normal spouses, paternal offsprings in the family, neither did on 40 controls. CONCLUSION: This site-specific PCR method is a kind of general mutation analysis way, without the restriction of existence of endonuclease site. It can be applied for the gene diagnosis of known-mutation hereditary diseases such as LHON.


Asunto(s)
ADN Mitocondrial/genética , Atrofia Óptica Hereditaria de Leber/genética , Mutación Puntual , Adulto , Femenino , Humanos , Masculino , Linaje , Reacción en Cadena de la Polimerasa/métodos
19.
PLoS One ; 9(2): e89923, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24587127

RESUMEN

BACKGROUND: Age-related cataract (ARC) is the leading cause of blindness in the world. The relationship between body mass index (BMI) and risk of ARC is controversial across observational studies. We therefore performed this meta-analysis to evaluate the association between BMI and risk of ARC. METHODS: Eligible studies were identified through an electronic search of PubMed, Embase and the Cochrane Library. We pooled study-specific relative risks (RRs) and 95% confidence intervals (CIs) to determine the risk of ARC associated with BMI categories and per 1 kg/m² increase in BMI. RESULTS: A total of 17 prospective cohort studies were included in the meta-analysis. The pooled RRs of ARC were 1.08 (95% CI, 1.01-1.16) for overweight and 1.19 (95% CI, 1.10-1.28) for obesity compared with normal weight. These findings were robust when stratified by sex, sample source, outcome types and confounders, while significantly differed by assessment of BMI and ARC, and duration of follow-up. The summary RR suggested that per 1 kg/m² increase in BMI was associated with a 2% increased risk of ARC (RR 1.02, 95% CI 1.01-1.03). Pooled estimates of RRs consistently indicated a trend for subjects with a high BMI to develop posterior subcapsular cataracts (RR 1.19, 95% CI 1.06-1.35, for overweight; RR 1.50, 95% CI 1.24-1.81, for obesity; RR 1.04, 95% CI 1.01-1.06, per 1 kg/m² increase in BMI) other than nuclear or cortical cataracts. CONCLUSIONS: The overall findings suggest that elevated BMI may increase the risk of ARC, especially posterior subcapsular cataracts. Further trials are needed to investigate the effect of weight reduction in obese populations on the risk of ARC.


Asunto(s)
Catarata/epidemiología , Catarata/etiología , Sobrepeso/complicaciones , Índice de Masa Corporal , Estudios de Cohortes , Humanos , Estudios Prospectivos
20.
Invest Ophthalmol Vis Sci ; 55(4): 2687-96, 2014 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-24508796

RESUMEN

PURPOSE: We conducted a meta-analysis of randomized controlled trials (RCTs) and observational studies to evaluate the association between aspirin use and age-related macular degeneration (AMD). METHODS: The pertinent studies were identified via literature search through four databases (MEDLINE, Web of Science, Cochrane Library, Embase) and reference lists of retrieved studies. Randomized controlled trials and cohort and case-control studies meeting the predefined criteria were included. We extracted relative risk (RR) or odds ratio (OR) or hazard ratio (HR) and 95% confidence interval (CI) from each study. Overall and study-specific risk estimates were pooled using fixed-effects and random-effects models, respectively. Subgroup analyses based on several stratified factors were also performed. RESULTS: In total, two RCTs, three cohort studies, and four case-control studies involving 177,683 subjects were included. The pooled effect of all nine studies showed no significant association between aspirin use and occurrence of AMD (RR, 1.00; 95% CI 0.96-1.04), and no significant association was observed in any specific study design (RR, 0.93; 95% CI 0.71-1.22 for RCT; RR, 1.02; 95% CI 0.87-1.20 for cohort study; RR, 1.00; 95% CI 0.96-1.04 for case-control study). However, subgroup analysis showed aspirin use to be significantly associated with an increased risk of neovascular AMD (RR, 1.59; 95% CI 1.09-2.31). CONCLUSIONS: The pooled effects from current literature suggest that aspirin use is not associated with AMD, but it increased the risk of the neovascular form of AMD.


Asunto(s)
Aspirina/farmacología , Degeneración Macular/etiología , Antiinflamatorios no Esteroideos/farmacología , Salud Global , Humanos , Incidencia , Degeneración Macular/epidemiología , Ensayos Clínicos Controlados Aleatorios como Asunto , Neovascularización Retiniana/inducido químicamente , Neovascularización Retiniana/epidemiología , Factores de Riesgo
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