Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 20
Filtrar
1.
Chinese Medical Ethics ; (6): 508-512, 2024.
Artículo en Chino | WPRIM | ID: wpr-1012931

RESUMEN

In the process of exploring standardized and efficient ethical review models for multi-center drug clinical trials, the ethical review alliance emerged as the times require. Compared with mature ethics committees, higher requirements have been put forward for the "young" ethics committees. By analyzing problems existing in review work of "young" ethics committees in the ethics review alliance, this paper discussed the measures to improve the review quality of "young" ethics committees and promote the standardized and efficient operation of the alliance, and put forward countermeasures and suggestions for improving the homogenization of ethics review and accelerating the clinical research process of innovative drugs.

2.
Chinese Journal of Biochemistry and Molecular Biology ; (12): 91-926, 2021.
Artículo en Chino | WPRIM | ID: wpr-1015909

RESUMEN

Growth arrest specific protein 6 (GAS6) plays an important role in the occurrence and development of tumors, and its signal transduction is involved in cell proliferation, adhesion and migration, but its related functions and molecular mechanisms in endometriosis (EMs) are still unclear. In this study, we searched and downloaded the transcriptome datasets of EMs from GEO database and performed GEO online analysis, and then screened out the differentially expressed genes and performed cluster analysis based on GO and KEGG pathway. The mRNA levels of the differentially expressed genes shared by more than three datasets were verified by qRT-PCR in the endometrium of ten women with no endometriosis and no clear disease and the ectopic endometrium of 11 patients with ovarian chocolate cysts. Immunohistochemistry and qRT-PCR were used to verify the expression of GAS6 and epithelial mesenchymal transition (EMT) marker genes, and immunofluorescence was used to co-label GAS6 and E-cadherin in endometriosis clinical samples. In this study, a total of 47 differentially expressed genes were screened out of the four transcriptome datasets, which were mainly enriched in processes such as cell migration and related signal pathways such as MAPK, PI3K-AKT, and tight junction. The mRNA levels of the nine differentially expressed genes shared by more than three datasets in endometriosis patients were consistent with the results of bioinformatics analysis. GAS6 expression levels in ectopic endometrium of EMs patients are higher than the control group (P < 0. 05), and EMs patients have the characteristics of EMT in the ectopic endometrial tissue, that is, the expression of E-cadherin is down-regulated (P < 0. 05) and the expression of vimentin is up-regulated (P < 0. 01). The expression of E-cadherin in the ectopic endometrial glandular epithelial cells of EMs patients is low while the expression of GAS6 is up-regulated, suggesting that GAS6 may mediate the EMT process in endometriosis. In conclusion, this study reveals that GAS6 is highly expressed in endometriosis patients and may mediate the EMT process to participate in the occurrence and development of endometriosis, providing a potential target for clinical treatment of endometriosis.

3.
Experimental & Molecular Medicine ; : e429-2018.
Artículo en Inglés | WPRIM | ID: wpr-739496

RESUMEN

This study investigated the effects of microRNA-135a (miR-135a) targeting of glycogen synthase kinase 3β (GSK3β) on the epithelial–mesenchymal transition (EMT), migration and invasion of bladder cancer (BC) cells by mediating the Wnt/β-catenin signaling pathway. BC and adjacent normal tissues were collected from 165 BC patients. Western blotting and quantitative real-time PCR were used to detect the expression of GSK3β, β-catenin, cyclinD1, E-cadherin, vimentin and miR-135a in BC tissues and cells. Cells were assigned to blank, negative control (NC), miR-135a mimics, miR-135a inhibitors, small interfering RNA (siRNA)-GSK3β or miR-135a inhibitors+siRNA-GSK3β groups. miR-135a, β-catenin, cyclinD1 and vimentin expression increased, while GSK3β and E-cadherin expression decreased in BC tissues compared with adjacent normal tissues. Compared with the blank and NC groups, the expression of miR-135a, β-catenin, cyclinD1 and vimentin was higher, and cell proliferation, migration, invasion and tumor growth were increased in the miR-135a mimics and siRNA-GSK3β groups. These groups showed an opposite trend in GSK3β and E-cadherin expression and cell apoptosis. The miR-135a inhibitors group was inversely correlated with the blank and NC groups. It was concluded that miR-135a accelerates the EMT, invasion and migration of BC cells by activating the Wnt/β-catenin signaling pathway through the downregulation of GSK3β expression.


Asunto(s)
Humanos , Apoptosis , Western Blotting , Cadherinas , Proliferación Celular , Regulación hacia Abajo , Glucógeno Sintasa Quinasas , Negociación , Reacción en Cadena en Tiempo Real de la Polimerasa , ARN Interferente Pequeño , Neoplasias de la Vejiga Urinaria , Vejiga Urinaria , Vimentina
4.
Chinese Pharmacological Bulletin ; (12): 882-886, 2018.
Artículo en Chino | WPRIM | ID: wpr-705145

RESUMEN

Aim To establish non-alcoholic fatty liver disease mouse model and study different kinds of lymphocytes in C57BL/6J mouse model. Methods SPF male C57BL/6J mice were randomly divided into control group ( normal diet ) and model group( normal diet with high fat diet by gavage) . Models of non-alcoholic fatty liver disease were established. At 12th and 16th weeks, body weight, liver index, serum TC, TG, HDL, LDL, ALT, AST were measured. Pathological examination of fat deposition in liver was performed. Flow cytometry was used to assay the percentage of natural killer cells, T helper cells, natu-ral killer T cells and IL4 +NKT cells in mouse liver. Results Liver index, serum TC, LDL, ALT, AST were significantly higher in model group(P<0.05) after 16 weeks. Pathological sections showed that liver fat deposition in model group was quite severe and large lipid droplets spread through the mouse liver. The percentage of natural killer T cells increased significantly( P<0.05 ) and the percentage of IL4 +NKT cells increased even more obviously(P<0.01). Conclusions C57BL/6J mice fed with normal diet and high fat diet by gavage can form a good non-alcoholic fatty liver disease mouse model. In this model, the number and activity of natural killer T cells are significantly changed, and natural killer T cells may be the new target of the mechanism and drug treatment of nonalcoholic fatty liver dis-ease.

5.
Chinese Journal of Analytical Chemistry ; (12): 1662-1668, 2017.
Artículo en Chino | WPRIM | ID: wpr-666670

RESUMEN

Hydrothermal oxidation was used to prepare a nickel-titanium alloy ( NiTi ) solid-phase microextraction fiber. The experimental results demonstrated that a nanoporous NiTi oxide composite coating was in situ grown on the surface of NiTi substrate by direct oxidation in aqueous H2 O2 solution at 80℃. The resulting composite oxide coating included more nickel and less titanium. The prepared NiTi fiber with Ni-rich oxide coating was used to extract typical aromatic compounds coupled with HPLC-UV and exhibited good extraction selectivity for polycyclic aromatic hydrocarbons ( PAHs). The key factors affecting extraction efficiency of PAHs were examined. Under the optimized conditions, the calibration curves were linear in the range from 0. 05 to 500 ng / mL with correlation coefficients ≥0. 999, and the limits of detection were 0. 026-0. 056 ng / mL. Furthermore, the relative standard deviations ( RSDs) for intra-day and inter-day repeatability of the single fiber varied from 4. 8% to 6. 2% and from 5. 4% to 6. 5% for five replicates of PAHs at the spiking level of 50 ng / mL, respectively. The RSDs for the fiber-to-fiber reproducibility of five fibers prepared in different batches ranged from 6. 4% to 8. 4% . This method was suitable for selective enrichment and detection of target PAHs in environmental water samples with relative recoveries of 87. 4% -108. 2% and RSDs <8. 1% . Moreover, this novel NiTi fiber was mechanically strong and chemically stable, and its preparation was precisely controllable.

6.
Chinese Journal of Interventional Cardiology ; (4): 550-556, 2017.
Artículo en Chino | WPRIM | ID: wpr-664658

RESUMEN

Objective To analyze the risk factors of repeat revascularization after percutaneous coronary intervention (PCI) in elderly patients.Methods A total of 315 patients,aged 60-99 (72.89±7.80) years hospitalized during 2004 and 2015 due to coronary heart disease and received PCI therapy in the geriatric department of Peking University First Hospital were enrolled.Patients who received repeat revascularization were divided into the target lesion repeat revascularization (TLR)group and the non target lesion revascularization (non-TLR)group.Multivariate regression analysis was performed to make comparisons with non repeat revascularization group respectively and evaluate related risk factors.The median follow-up was 62months.Results The rate of TLR was less than non-TLR in elderly patients.Multivariate regression analysis showed that diabetes mellitus (HR 4.56,95% CI 1.94-10.75,P<0.05) and number of stents (HR 1.55,95% CI 1.05-2.29,P<0.05) were related risk factor of TLR,while age (HR 0.94,95% CI 0.90-0.98,P<0.05),the value of LDL-C reduction (HR 2.51,95% CI 1.56-3.99,P<0.05),the proportion of bifurcation lesions (HR 2.24,95% CI 1.20-4.17,P<0.05) and residual SYNTAX score (rSS) (HR 1.07,CI95% 1.02-1.11,P<0.05) wererelated risk factors of non-TLI.Conclusions The incidence of non-TLR were higher than TLR in elderly patients.Increased total number of stent implantation and diabetes mellitus were related risk factors of TLR,while the lower average age,less reduction of LDL-C,increased proportion of bifurcation lesions and higher rSS were related risk factors of non-TLR.

7.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 950-6, 2014.
Artículo en Inglés | WPRIM | ID: wpr-636900

RESUMEN

There have been numerous studies done to explore the diagnostic performance of quantitative diffusion-weighted (DW) MR imaging to differentiate between benign and malignant pancreatic masses. However, the results have been inconsistent. We performed a meta-analysis to investigate whether DW-MR imaging can differentiate between these two diseases. Databases including MEDLINE, EMBASE and Cochrane Library were utilized to find relevant articles published between January 2001 and January 2014. A Stata version 12.0 and a Meta-Disc version 1.4 were used to describe primary results. Twelve studies with 594 patients, which fulfilled the inclusion criteria, were enrolled for the analysis. The pooled sensitivity and specificity of DW imaging was 0.91 (95% CI: 0.84, 0.95) and 0.86 (95% CI: 0.76, 0.93) respectively. The area under the curve of the summary receiver operating characteristic was 0.95 (95% CI: 0.93, 0.96). The results indicated that DW imaging might be a valuable tool for differentiating benign and malignant pancreatic masses.

8.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 950-956, 2014.
Artículo en Inglés | WPRIM | ID: wpr-331118

RESUMEN

There have been numerous studies done to explore the diagnostic performance of quantitative diffusion-weighted (DW) MR imaging to differentiate between benign and malignant pancreatic masses. However, the results have been inconsistent. We performed a meta-analysis to investigate whether DW-MR imaging can differentiate between these two diseases. Databases including MEDLINE, EMBASE and Cochrane Library were utilized to find relevant articles published between January 2001 and January 2014. A Stata version 12.0 and a Meta-Disc version 1.4 were used to describe primary results. Twelve studies with 594 patients, which fulfilled the inclusion criteria, were enrolled for the analysis. The pooled sensitivity and specificity of DW imaging was 0.91 (95% CI: 0.84, 0.95) and 0.86 (95% CI: 0.76, 0.93) respectively. The area under the curve of the summary receiver operating characteristic was 0.95 (95% CI: 0.93, 0.96). The results indicated that DW imaging might be a valuable tool for differentiating benign and malignant pancreatic masses.


Asunto(s)
Humanos , Imagen de Difusión por Resonancia Magnética , Métodos , MEDLINE , Neoplasias Pancreáticas , Diagnóstico por Imagen , Radiografía , Sensibilidad y Especificidad
9.
Chinese Journal of Burns ; (6): 245-248, 2013.
Artículo en Chino | WPRIM | ID: wpr-284109

RESUMEN

<p><b>OBJECTIVE</b>To investigate the changes in aquaporin-1 (AQP-1) expression in myocardium of scalded rats in early stage of a burn injury, and to analyze its relationship with myocardial edema.</p><p><b>METHODS</b>Thirty-six healthy Wistar rats were divided into normal control (n = 6, without scald) and scald (n = 30) groups according to the random number table. Rats in scald group were inflicted with 30%TBSA full-thickness scald on the back, and intraperitoneally injected with Ringer's solution for antishock treatment. Myocardium tissue from left ventricle and serum specimen in rats of scald group were collected at post scald hours (PSH) 2, 8, 12, 24, and 48 (with 6 rats at each time point). Myocardial water ratio was determined by dry-wet weight method. The distribution of AQP-1 protein in myocardium was observed with immunohistochemical staining. The expression of myocardial AQP-1 mRNA was assessed with quantitative real-time PCR. The serum content of cardiac troponin-I (cTnI) was determined with ELISA. The rats in normal control group were detected with above-mentioned method. Data were processed with one way analysis of variance and LSD test. Correlation analysis was performed between AQP-1 mRNA and myocardial water ratio, AQP-1 mRNA and the serum content of cTnI in scald group at each time point.</p><p><b>RESULTS</b>Compared with that in normal control group, the myocardial water ratio in scald group was markedly increased during PSH 8-48 (P values all below 0.01), and it peaked at PSH 12 [(80.79 ± 0.12)%]. In both groups, AQP-1 was mainly expressed in endothelial cells of capillaries and pericellular membrane of myocardial cells. The expression of AQP-1 in scald group was markedly increased from PSH 2 to PSH 48. The expression of myocardial AQP-1 mRNA in scald group was markedly higher from PSH 2 to PSH 48 than that in normal control group (P values all below 0.01), and it peaked at PSH 12 [(6.2 ± 0.7)%]. The serum content of cTnI in scald group was obviously higher from PSH 2 to PSH 48 than that in normal control group (P values all below 0.01), and it peaked at PSH 12 [(5.83 ± 0.51) µg/L]. There were statistically positive correlations between AQP-1 mRNA expression and myocardial water ratio (r = 0.849, P < 0.01), AQP-1 mRNA expression and the serum content of cTnI (r = 0.973, P < 0.01) in scald group.</p><p><b>CONCLUSIONS</b>AQP-1 may play a key role in the development of myocardial edema in rats with scald.</p>


Asunto(s)
Animales , Ratas , Acuaporina 1 , Metabolismo , Quemaduras , Metabolismo , Patología , Cardiomiopatías , Metabolismo , Modelos Animales de Enfermedad , Edema , Metabolismo , Miocardio , Metabolismo , Patología , Ratas Wistar , Troponina I , Sangre
10.
Clinical Medicine of China ; (12): 585-587, 2012.
Artículo en Chino | WPRIM | ID: wpr-425810

RESUMEN

Objective To explore the significance of surgical resection for the pineal region tumor,the extent of tumor resection,the surgical approaches and treatment measures of hydrocephalus.Methods Twentythree patients diagnosed of pineal region cancer were recruited for this study.Thirteen patients received ventriculo-peritoneal shunt(V-P),during which 7 cases received intraoperative end-plate colostomy.Two of the 13 cases received a second V-P procedure.Another 13 cases received operation by corpus callosum- septum-Dome Room-the third ventricle approach to remove the tumor; Eight cases underwent the tumor resection by suboccipital supratentorial approach (Poppen approach )and 2 cases underwent the tumor resection by the infratentorial cerebellar approach( Krause approach).Results Total tumor resection was performed in 11 cases,subtotal or major total resection in 8 cases and partial resection in 4 cases.Nine cases underwent postoperative radiotherapy alone,8 receiving radiotherapy plus chemotherapy,and 6 cases receiving neither radiotherapy nor chemotherapy.Two cases died during treatment.Conclusion Though it is not practicable to completely remove the germ cell tumor in patients with relatively large tumors,cerebrospinal fluid circulation pathways should be reestablished,including ventriculo-peritoneal shunt,colostomy from the end of the third ventricle to the end plate.If tumors are not too large,they would be easy to be removed.The effects on the surrounding brain tissue would not be much significant.If the connection of Ⅲ,V ventricles were normal,the patient may not need shunt or colostomy.Radiotherapy and chemotherapy can be given to this kind of patients after the surgery.To improve the efficacy,other types of tumors,expecially the benign tumors,should be totally removed.

11.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 770-774, 2011.
Artículo en Chino | WPRIM | ID: wpr-419915

RESUMEN

Objective To compare the effectiveness of hyperbaric oxygen (HBO) therapy and normal pressure oxygen inhalation for lung infection in patients with severe brain injury and tracheotomy.Methods Sixty lung infection patients with severe brain injury and tracheotomy were stratified by age and Glasgow coma scale (GCS) score into an HBO group (30) and a conventional therapy group (30).Both groups were given treatments to reduce intracranial hypertension and protect the brain,surgery,antibiotics,and symptomatic and support therapy.In the conventional group the patients received oxygen therapy at normal oxygen pressure by tracheal cannula.In the HBO group,the patients received HBO therapy through self-made oxygen devices by the authors.The body temperature,cough and expectoration,respiratory sounds and white blood cell (WBC) count were compared between the groups.Results There were statistically significant differences in body temperature,cough and expectoration,respiratory sounds and the normalized time for the count and classification of WBC between the groups.Conclusion HBO had good treatment effectiveness for excretion and expectorant in lung infection patients with severe brain injury and tracheotomy.

12.
Chinese Journal of Gastrointestinal Surgery ; (12): 842-845, 2010.
Artículo en Chino | WPRIM | ID: wpr-266260

RESUMEN

<p><b>OBJECTIVE</b>To explore the impact of abnormal myoelectricity at gastroduodenal anastomosis on gastric emptying in rats.</p><p><b>METHODS</b>Rats were randomly divided into experimental group (n=16) and control group (n=16). Pylorectomy and end-to-end gastroduodenal anastomosis were performed in the experimental group and electrodes were implanted in the serosal surface adjacent to the anastomosis. Slow waves were recorded by the implanted electrode in vivo. Gastric emptying was examined by scintigraphy.</p><p><b>RESULTS</b>At the first week after surgery, antral slow-wave frequency was significantly lower in the experimental group (0.8±1.4 vs. 3.3±1.2, P<0.01), as was the duodenal slow-wave frequency (2.1±0.6 vs. 11.1±0.7, P<0.01). There was no consecutive slow-waves transduction across the pylorus or the anastomosis. Within 12-16 weeks after operation, antral slow-wave frequency in the experimental group and the control group were (8.7±0.6) cpm and (4.0±0.4) cpm, respectively (P<0.01), and duodenal slow-wave frequency were (11.1±0.8) cpm and (10.8±0.7) cpm, respectively (P>0.05). Retrograde and antegrade myoelectricity transduction through the anastomosis were detected. The mean semi-emptying time in the proximal stomach was 14.7 min in the experimental group and 13.6 min in the control group (P>0.05). Radionuclide retention rate was 25.4% in the experimental group and 39.4% in the control group (P>0.05). The mean semi-emptying time in the distal stomach was 25.3 min in the experimental group and 10.5 min in the control group (P<0.01). Radionuclide retention rate was 46.4% in the experimental group and 18.7% in the control group (P<0.01).</p><p><b>CONCLUSION</b>The abnormal myoelectricity in the region of gastroduodenal stoma may delay liquid gastric emptying in pylorectomy rats.</p>


Asunto(s)
Animales , Masculino , Ratas , Duodeno , Fisiología , Cirugía General , Vaciamiento Gástrico , Fisiología , Gastroenterostomía , Complejo Mioeléctrico Migratorio , Fisiología , Ratas Sprague-Dawley , Estomas Quirúrgicos , Fisiología
13.
Journal of Southern Medical University ; (12): 1111-1113, 2010.
Artículo en Chino | WPRIM | ID: wpr-289978

RESUMEN

<p><b>OBJECTIVE</b>To investigate the changes in the myocardial expression of aquaporin-1 (AQP1) protein and its association with myocardial edema in rats with severe burns.</p><p><b>METHODS</b>Forty-eight healthy adult Wistar rats were randomly divided into normal control group (n=6) and burn injury group with third degree burn of 30% total body surface area, and the latter group was further divided into 2, 4, 8, 12, 24, 48 and 72 h groups. The changes of myocardial water content were investigated by dry-wet weight methods. Enzyme-linked immunosorbent assay was used to detect the changes in AQP1 expression at different time points after sever burns.</p><p><b>RESULTS</b>The myocardial water content and AQP1 expression increased significantly 2 h after the burn injury, reaching the peak levels at 12 h and remaining higher than the normal level at 48 h. A significant positive correlation was found between myocardial water content and AQP1 expression in the rats (r=0.868, P<0.01).</p><p><b>CONCLUSION</b>The severity of myocardial edema after severe burn is correlated to the expression level of AQPl protein, suggesting the important role of AQPl protein in pathological progression of myocardial edema.</p>


Asunto(s)
Animales , Femenino , Masculino , Ratas , Acuaporina 1 , Genética , Metabolismo , Quemaduras , Metabolismo , Patología , Edema , Metabolismo , Miocardio , Metabolismo , Patología , Distribución Aleatoria , Ratas Wistar
14.
Journal of Southern Medical University ; (12): 727-730, 2010.
Artículo en Chino | WPRIM | ID: wpr-355033

RESUMEN

<p><b>OBJECTIVE</b>To investigate the changes in the expression of aquaporin 1 (AQP-1) in edematous small intestinal tissues of rats after severe burn and the effect of early enteral feeding on its expression.</p><p><b>METHODS</b>Ninety normal adult Wistar rats were randomly divided into normal control group (n=6), burn model group (n=42, with 30% TBSA III degrees) and early feeding group (n=42). Dry weight method, ELSIA and immunohistochemistry were used to observe and detect the water content and expression of AQP-1 in the intestinal tissue at 1, 4, 8, 12, 24, 48, and 72 h after the burns.</p><p><b>RESULTS</b>In the burn model group, the water content in the intestinal tissue increased at 4 h after the injury, reaching the peak level at 48 h; AQP-1 expression decreased at 8 h after severe burn and reached the lowest level at 48 h. AQP-1 expression level showed a significant inverse correlation to the water content (P<0.01). Compared with the burn model group, the rats in the early feeding group showed increased AQP-l expression and lessened edema in the small intestines, also demonstrating an inverse correlation between water content and AQP-l expression (P<0.01).</p><p><b>CONCLUSION</b>Intestinal AQP-1 expression gradually decreased and edema worsened in rats early after severe burn, reaching the lowest or the peak levels 48 h after the injury with an inverse correlation between them. Early enteral feeding can increase the expression of AQP-l in the small intestine to ameliorate the intestinal edema in rats with severe burn injury.</p>


Asunto(s)
Animales , Femenino , Masculino , Ratas , Acuaporina 1 , Metabolismo , Quemaduras , Dietoterapia , Metabolismo , Edema , Metabolismo , Nutrición Enteral , Intestino Delgado , Metabolismo , Patología , Distribución Aleatoria , Ratas Wistar , Factores de Tiempo
15.
Journal of Zhejiang University. Medical sciences ; (6): 100-102, 2009.
Artículo en Chino | WPRIM | ID: wpr-310384

RESUMEN

<p><b>OBJECTIVE</b>To evaluate the feasibility and safety of transperitoneal laparoscopic nephrectomy in live-donors.</p><p><b>METHODS</b>Two cases of live-donor underwent laparoscopic nephrectomy in May and August 2008 respectively and both were followed up.</p><p><b>RESULT</b>In two cases the operation time was 130, 10 min; blood loss was 50 ml; warm ischemic time was 30 s and 2 min; the length of artery was 4.0 cm and 3.5 cm; the length of vein was 3.0 cm. The grafted kidneys started to produce urine at 30 s and 10 s after blood supply. Renal function of donor returned to normal after two days. The donors were discharged at 7th day after the operation. Renal function of recipient was normal after 3 days.</p><p><b>CONCLUSION</b>Transperitoneal laparoscopic nephrectomy in live-donor is a safe and effective procedure, which provides kidney with satisfactory blood vessels and ureter for graft.</p>


Asunto(s)
Femenino , Humanos , Masculino , Persona de Mediana Edad , Trasplante de Riñón , Laparoscopía , Donadores Vivos , Nefrectomía , Métodos , Peritoneo , Cirugía General , Recolección de Tejidos y Órganos
16.
Chinese Journal of Medical Genetics ; (6): 567-570, 2009.
Artículo en Chino | WPRIM | ID: wpr-287373

RESUMEN

<p><b>OBJECTIVE</b>To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).</p><p><b>METHODS</b>Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.</p><p><b>RESULTS</b>No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.</p><p><b>CONCLUSION</b>ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.</p>


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Edad de Inicio , Pueblo Asiatico , Genética , Secuencia de Bases , China , Epidemiología , Análisis Mutacional de ADN , Datos de Secuencia Molecular , Mutación , Trastornos Parkinsonianos , Epidemiología , Genética , Linaje , Polimorfismo Genético , ATPasas de Translocación de Protón , Genética
17.
Chinese Journal of Medical Genetics ; (6): 289-292, 2008.
Artículo en Chino | WPRIM | ID: wpr-229771

RESUMEN

<p><b>OBJECTIVE</b>To establish and improve the method of bisulfite sequencing for methylation status of imprinted genes in single human oocytes.</p><p><b>METHODS</b>Single superovulated immature human oocyte was embedded into low melting point agarose, followed by bisulfite treatment and polymerase chain reaction (PCR) amplification of the H19 and MEST genes. The PCR products were then subjected to TA cloning and sequencing to determine the methylation status.</p><p><b>RESULTS</b>With the modified methods of embedding and bisulfite treatment, we achieved a high PCR success rate of 82.46%, with the somatic cell contamination rate as low as 7.14%. The sequencing results showed no non-CpG cytosine and exact conformity to the theoretical sequences.</p><p><b>CONCLUSION</b>The bisulfite sequencing method we used to determine the methylation status of imprinted genes at the single-cell level was highly efficient and reliable, which can serve as a foundation for the further study of the influences of human assisted reproductive technology on genomic imprinting.</p>


Asunto(s)
Femenino , Humanos , Metilación de ADN , Impresión Genómica , Genética , Oocitos , Metabolismo , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Métodos
18.
Chinese Journal of Medical Genetics ; (6): 217-220, 2007.
Artículo en Chino | WPRIM | ID: wpr-247348

RESUMEN

<p><b>OBJECTIVE</b>To analyze the meiotic segregation results of male reciprocal chromosome translocation by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Multi-color FISH using 3 combined probes located in any 3 chromosome segments on both sides of two breakpoints was performed on the de-condensed sperm head to analyze the sperm chromosomal contents and segregation patterns.</p><p><b>RESULTS</b>Four male reciprocal translocation carriers were included in the study, with the karyotypes of 46, XY, t(2;18) (p16; q23); 46, XY, t(4;6) (q34;q21); 46, XY, t(8;13) (q23;q21) and 46, XY, t(4;5) (4q31;5q13), respectively. The results showed that 4 carriers had different proportions of various segregated spermatozoa. The spermatozoa of alternate, adjacent-1, adjacent-2, 3:1, non-disjunction in meiosis II, and 4:0 or diploidy accounted for 27.1%-49.4%, 26.9%-37.6%, 2.7%-15.7%, 8.6%-32.7%, 0.2%-1.9%, and 0.1%-0.4%, respectively.</p><p><b>CONCLUSION</b>For each-reciprocal translocation carrier seems to have a particular meiotic segregation results, FISH analysis on sperm head should be done for each carrier in order to provide an accurate genetic counseling.</p>


Asunto(s)
Humanos , Masculino , Rotura Cromosómica , Heterocigoto , Hibridación Fluorescente in Situ , Cariotipificación , Meiosis , Genética , Espermatozoides , Metabolismo , Translocación Genética , Genética
19.
Chinese Journal of Surgery ; (12): 225-227, 2003.
Artículo en Chino | WPRIM | ID: wpr-300042

RESUMEN

<p><b>OBJECTIVE</b>To develop a method performed on an oligonucleotide array for HLA-DR53 group genotyping.</p><p><b>METHODS</b>According to the specific allelic frequency and sequence of HLA-DRB loci in Chinese Han population, HLA-DR53 group typing probes which were immobilized on a glass supports were synthesized. A pair of group-special primers labeled by the Cy5-dCTP were designed, and the primers were used in the PCR, thus the PCR products were labeled with Cy5. The labeled PCR products were hybridized with array. The signals were scanned by scanner and analyzed by image software. The typing results were confirmed by standard DNA and PCR-SSO. One hundred and eleven samples were typed by this array.</p><p><b>RESULTS</b>There were 72 HLA-DR53 group loci typed by oligonucleotide array. Among them, 34 loci were DR9, 25 were DR4, and 13 were DR7. No false positive or false negative typing results were observed. The specificity and reproducibility were 100% and the overall time of genotyping was 5 hours.</p><p><b>CONCLUSION</b>The oligonucleotide array technique is a precise, rapid molecular method for HLA-DR53 genotyping, suited for clinical practice.</p>


Asunto(s)
Humanos , Genotipo , Antígenos HLA-DR , Genética , Cadenas HLA-DRB4 , Análisis de Secuencia por Matrices de Oligonucleótidos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
20.
Journal of Clinical Neurology ; (6)1997.
Artículo en Chino | WPRIM | ID: wpr-596747

RESUMEN

Objective To explore the application of self-expanding stent and seperable detachable coil for interventional therapy in patients with wide-necked intracranial aneurysm.Methods 32 patients with wide-necked intracranial aneurysm received the interventional therapy by self-expanding stent and seperable detachable coil.After operation,the situation of the aneurysm occluded were observed by DSA immediately and followed up.Results The stents were successfully deployed in the 32 patients.The seperable detachable coils were occluded in the aneurysms in 29 cases.After operation immediately,the DSA showed that the aneurysms in 18 cases were completely occluded by seperable detachable coils,7 cases were 95% occluded,4 cases were 90% occluded.In the other 3 cases,the aneurysms were too small to be filled by seperable detachable coil,the stents were used only.All the parent arteries were no stenosis.18 h after operation,1 case died from multiple hemorrhage caused by thrombasthenia.Follow-up from 3 months to 1 year,DSA re-examination in 21 cases.Compared with the image immediately after operation,the imagings of DSA were no change in 12 cases,residual necks were disappeared in 5 cases and increased in 1 case.In the 3 cases which stents used only,the aneurysms were no development completely in the 2 cases and decreased in 1 case.6~18 months followed up in 26 cases,the rebleeding and cerebral infarction were no occurred.Conclusions The self-expanding stent is very flexible,secure,and effective.It can good support for the wide-necked aneurysms to be occluded by seperable detachable coils and effective promoting the small aneurysms healing.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA