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1.
International Eye Science ; (12): 677-685, 2024.
Artículo en Chino | WPRIM | ID: wpr-1016577

RESUMEN

AIM:To identify transcriptional differences between the ocular surface ectoderm(OSE)and surface ectoderm(SE)using RNA-seq, and elucidate the OSE transcriptome landscape and the regulatory networks involved in its development.METHODS:OSE and SE cells were differentiated from human embryonic stem(hES)cells. Differentially expressed genes(DEGs)between OSE and SE were analyzed using RNA-seq. Based on the DEGs, we performed gene ontology(GO)analysis, Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analysis, and protein-protein interaction(PPI)network analysis. Transcription factors(TFs)and hub genes were screened. Subsequently, TF-gene and TF-miRNA regulatory networks were constructed using the NetworkAnalyst platform.RESULTS:A total of 4 182 DEGs were detected between OSE and SE cells, with 2 771 up-regulated and 1 411 down-regulated genes in OSE cells. GO-BP analysis revealed that up-regulated genes in OSE were enriched in the regulation of ion transmembrane transport, axon development, and modulation of chemical synaptic transmission. Down-regulated genes were primarily involved in nuclear division, chromosome segregation, and regulation of cell cycle phase transition. KEGG analysis indicated that up-regulated genes in OSE cells were enriched in signaling pathways such as cocaine addiction, axon guidance, and amphetamine addiction, while down-regulated genes were enriched in proteoglycans in cancer, ECM-receptor interaction, protein digestion and absorption, and cytokine-cytokine receptor interaction. Additionally, compared with SE, 204 TFs(including FOS, EGR1, POU5F1, SOX2, and PAX6)were up-regulated, and 80 TFs(including HAND2, HOXB6, HOXB5, HOXA5, and HOXB8)were down-regulated in OSE cells. Furthermore, we identified 6 up-regulated and 9 down-regulated hub genes in OSE cells, and constructed TF-gene and TF-miRNA regulatory networks based on these hub genes.CONCLUSIONS:The transcriptome characteristics of OSE and SE cells were elucidated through RNA-seq analysis. These findings may provide a novel insight for studies on the development and in vitro directed induction of OSE and corneal epithelial cells.

2.
Chinese Journal of Laboratory Medicine ; (12): 697-704, 2023.
Artículo en Chino | WPRIM | ID: wpr-995780

RESUMEN

Objective:To investigate the distribution and related factors of lipoprotein(a) [Lp(a)] level in healthy Tajik and Kazak adults in China.Methods:A cross-sectional study was conducted from May to October 2021 and March to June 2022, and blood samples were collected from 2, 637 healthy Tajik adults [1 010 men, average age: (40.08±14.74) years; 1 627 women, average age: (38.27±12.90) years] in Tashkurgan Tajik Autonomous County and 1 911 healthy Kazak adults [720 men, average age: (42.10±12.26) years; 1 191 women, average age: (38.27±12.90) years] in Fuyun County of Xinjiang. Fasting blood glucose (FBG), creatinine (Cr), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and Lp(a) were measured. The distribution of Lp(a) levels in different sex and age groups was compared. The Lp(a) level of Tajik and Kazakh ethnic groups was compared by Mann-Whitney U test, and correlation factors of Lp(a) level were analyzed by multiple logistic regression. Results:The distribution of Lp(a) level in Tajik and Kazak population was skewed. Lp(a) levels of Tajik and Kazak ranged from the lowest 0.40 mg/L and 0.62 mg/L to the highest 1 229.40 mg/L and 2 108.58 mg/L, respectively, and the median Lp(a) level was 78.90 (38.60, 190.20) mg/L and 103.30 (49.57, 234.27) mg/L, respectively. Median Lp(a) level of Kazak was significantly higher than that of Tjik ( P<0.001). The median Lp(a) levels of Tajik males and females were similar: 77.45 (39.80, 187.10) mg/L and 79.90 (38.60, 192.30) mg/L ( P=0.948). The median Lp(a) levels of Kazakh males and females were also similar: 109.42 (50.49, 230.38) mg/L and 99.01 (49.11, 237.25) mg/L, respectively ( P=0.578). After pooling the data of Tajik and Kazak and adjusting for age, sex, BMI, smoking, drinking, blood pressure, blood glucose and other factors, Lp(a) level was correlated with ethnic (standard partial regression coefficient 0.066, P=0.008) and LDL-C level (standard partial regression coefficient 0.136, P<0.001). Conclusions:Lp(a) level in healthy Tajik and Kazak adults varied greatly among individuals, and Kazak residents had a higher Lp(a) level than Tajik residents. There was no significant sex difference in Lp(a) level among Tajik and Kazakh, and LDL-C and ethnicity are independent factors related to Lp(a) level.

3.
Chinese Journal of Health Management ; (6): 721-727, 2022.
Artículo en Chino | WPRIM | ID: wpr-957235

RESUMEN

Objective:To construct a chronic obstructive pulmonary disease (COPD) assessment test (CAT) score prediction model based on a deep network fused with air data, and to explore its significance.Methods:From February 2015 to December 2017, the outdoor environmental monitoring air data near the residential area of the patients with COPD from the Respiratory Outpatient Clinics of Peking University Third Hospital, Peking University People′s Hospital and Beijing Jishuitan Hospital were collected and the daily air pollution exposure of patients was calculated. The daily CAT scores were recorded continuously. The CAT score of the patients in the next week was predicted by fusing the time series algorithm and neural network to establish a model, and the prediction accuracy of the model was compared with that of the long short-term memory model (LSTM), the LSTM-attention model and the autoregressive integrated moving average model (ARIMA).Results:A total of 47 patients with COPD were enrolled and followed up for an average of 381.60 days. The LSTM-convolutional neural networks (CNN)-autoregression (AR) model was constructed by using the collected air data and CAT score, and the root mean square error of the model was 0.85, and the mean absolute error was 0.71. Compared with LSTM, LSTM-attention and ARIMA, the average prediction accuracy was improved by 21.69%.Conclusion:Based on the air data in the environment of COPD patients, the fusion deep network model can predict the CAT score of COPD patients more accurately.

4.
International Journal of Surgery ; (12): 819-823,f4, 2021.
Artículo en Chino | WPRIM | ID: wpr-929949

RESUMEN

Objective:To explore the expression of circular RNA circ-MYBL2 in prostate cancer tissue and the molecular mechanism of its influence on the occurrence and metastasis of prostate cancer.Methods:From February 2017 to April 2021, 45 cases of prostate cancer tissues and paracancerous tissues from patients with prostate cancer in the Department of Urology, Jingmen No.2 People′s Hospital were selected. quantitative real-time fluorescence polymerase chain reaction (qRT-PCR) was used to detect the difference in expression of circ-MYBL2 in prostate cancer tissues and adjacent tissues, and the difference in expression of circ-MYBL2 in prostate cancer cell lines and immortalized prostate duct epithelial cells. Cell lines with low circ-MYBL2 expression were respectively transfected with circ-MYBL2 plasmid (circ-MYBL2 group) or negative control plasmid (control group). qRT-PCR was used to detect the transfection efficiency of circ-MYBL2 plasmid. CCK-8 method and cell scratch test were used to detect the effect of circ-MYBL2 on cell proliferation and migration. The starBase v2.0 software was used to predict the miRNA bound by circ-MYBL2 and the target gene of miRNA. The dual luciferase reporter gene experiment was used to verify the regulatory relationship between circ-MYBL2 and miRNA. qRT-PCR was used to detect the influence of circ-MYBL2 on miRNA expression and the influence of miRNA on target gene mRNA expression. Western blotting was used to detect the expression of target gene protein and Wnt/β-catenin signaling pathway proteins. The measurement data were expressed as mean±standard deviation ( Mean± SD), the comparison between the means of multiple samples used one-way analysis of variance, and the comparison between the means of two samples used the t-test. Results:The expression of circ-MYBL2 of DU-145 cells in prostate cancer tissue was significantly lower than that in adjacent tissues ( P<0.01). The expression of circ-MYBL2 in prostate cancer cell lines was significantly lower than that of prostate ductal epithelial cells ( P<0.01), and the expression of DU-145 cells was the lowest ( P<0.01). Compared with the control group, the expression of circ-MYBL2 of DU-145 cells in the circ-MYBL2 group increased significantly ( P<0.01), and circ-MYBL2 reduced the proliferation activity ( P<0.05) and migration ability ( P<0.01) of DU-145 cells. circ-MYBL2 acted as a sponge to adsorb miR-324-3p, and miR-324-3p complementarily bound to the suppressor of SUFU gene. circ-MYBL2 inhibited the expression of miR-324-3p ( P<0.01), SUFU gene expression was increased ( P<0.01), and Wnt/β-catenin signal pathway transduction was inhibited. Conclusion:circ-MYBL2 promotes the expression of SUFU gene by adsorbing miR-324-3p, inhibits the Wnt/β-catenin signaling pathway, thereby reducing the proliferation activity and migration ability of prostate cancer cells.

5.
Chinese Journal of Nuclear Medicine and Molecular Imaging ; (6): 663-668, 2020.
Artículo en Chino | WPRIM | ID: wpr-869212

RESUMEN

Objective:To explore the clinical value of 99Tc m-methylene diphosphonate (MDP) SPECT/CT imaging in Langerhans cell histiocytosis (LCH) in children. Methods:From June 2018 to October 2019, the imaging characteristics of 99Tc m-MDP SPECT/CT imaging in 13 children (8 males, 5 females; age: 1-11 (4.2±2.8) years) with LCH confirmed by pathology and immunohistochemistry in Wuhan Children′s Hospital were analyzed retrospectively. The location, number, imaging manifestations, and maximum standardized uptake value (SUV max) of the lesions were evaluated. Results:There were 18 lesions (8 in the vertebral body, 3 in the femur, 3 in the skull, 2 in the rib, 1 in the shoulder blade, 1 in the sciatic and pubic bone) in 13 children, including 9 with single lesion and 4 with multiple lesions. Of 18 lesions, 17 showed different degrees of osteolytic bone destruction, 15 presented as soft tissue masses, and 3 showed marginal sclerosis on CT imaging. All lesions showed increased 99Tc m -MDP uptake (SUV max: 1.22-15.57 (8.67±3.19)). Conclusion:99Tc m-MDP SPECT/CT has the advantage of combining functional and morphological imaging, and is helpful in the early diagnosis, clinical classification and evaluation of curative effect of children′s LCH, which provides objective basis for clinical practice.

6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1425-1427, 2020.
Artículo en Chino | WPRIM | ID: wpr-864242

RESUMEN

Objective:To understand the hereditary cancer related to germline TP53 mutations. Methods:A retrospective analysis was performed on a case of acute lymphoblastic leukemia(ALL) secondary to rhabdomyosarcoma admitted to Wuhan Children′s Hospital in February 2019.The clinical characteristics and gene detection were analyzed, and the correlative literature was studied.Results:The patient was diagnosed with rarely pleomorphic rhabdomyosarcoma at the age of 9 months, and only underwent complete excision without subsequent chemotherapy and radiotherapy.Seven years later, without exposure to suspicious carcinogenic risk factors, she was suffered from secondary ALL, germline TP53 mutations were confirmed by mutation gene detection and genetic verification.She received the induction treatment with Vincristine+ Daunorubicin+ L-Asparaginase+ Dexamethasone(VDLD), and then achieved the complete remission.According to the literature review result, there were 1 438 mutations emerging in TP53 gene, which were dominant by missense point mutations (707 kinds). These mutations could result in early-onset tumors that commonly arose in female patients.Molecular targeted therapy through TP53 gene mutation pathway could resist tumors. Conclusions:Germline TP53 mutation screening should be recommended for the early-onset tumor with genetic predisposition, and systematical monitoring of the family is also suggested, so as to early intervene and prevent the occurrence of the second tumor.The targeted drugs for germline TP53 mutations can reduce the toxicity of radiotherapy and chemotherapy and achieve high treatment effects.

7.
Chinese Journal of Preventive Medicine ; (12): 104-107, 2020.
Artículo en Chino | WPRIM | ID: wpr-799110

RESUMEN

From 1987 to 2017, cardiovascular disease (CVD) had been ranking the first cause of death in Suzhou, and the mortality rate showed an upward trend annual percentage changes (APC=0.62%, P=0.001), while the standardized mortality rate showed a downward trend (APC=-2.65%, P<0.001). The probability of premature death of CVD declined consistently from 7.06% in 1987 to 2.00% in 2017 (APC=-4.45%, P<0.001). When the life expectancy was set at 70, the potential years of life lost rate (PYLLR) decreased from 6.35‰ in 1987 to 3.30‰ in 2017, and the standardized PYLLR decreased from 7.30‰ to 2.68‰. When the life expectancy was set at 75, the PYLLR decreased from 10.12‰ to 5.19‰, and the standardized PYLLR decreased from 11.44‰ to 3.88‰. With the increase of years, all PYLLR and standardized PYLLR showed a significantly downward trend (APC=-2.51%--3.89%, P<0.001).

8.
Chinese Journal of Preventive Medicine ; (12): 615-621, 2018.
Artículo en Chino | WPRIM | ID: wpr-806767

RESUMEN

Objective@#To investigate the relationship between physical activity (PA) and the risk of incident hypertension among population in rural areas of China.@*Methods@#The Community Intervention of Metabolic Syndrome in China & Chinese Family Health Study (CIMIC) was conducted in 2007-2008. Data on PA, smoking, drinking, blood pressure and other variables were obtained at baseline. Then the follow-up study of incident hypertension was performed during 2012-2015. A total of 41 457 participants aged ≥18 years and free from hypertension at baseline were included in the final analyses. PA was calculated as metabolic equivalent (MET) for each participant. Cox proportional hazard models were used to explore the relationship of PA with incident hypertension according to the quartiles of PA.@*Results@#A total of 6 780 participants developed hypertension during an average follow up of 5.8 years. The annual incidence of hypertension was 2.80%. Compared to participants in the first quartile of PA, HR (95%CI) of incident hypertension decreased with the level of PA of 0.92 (0.86, 0.99), 0.72 (0.67, 0.77) and 0.70 (0.65, 0.75) for the 2nd, 3rd and 4th quartile, respectively (Ptrend<0.001). In subgroup analyses, compared to the first quartile, hazards of hypertension among normotensive participants (systolic blood pressure less than 120 mmHg (1 mmHg=0.133 kPa) and diastolic blood pressure less than 80 mm Hg) in the 2nd, 3rd and 4th quartile were 0.82 (0.70, 0.95), 0.73 (0.63, 0.85) and 0.78 (0.67, 0.90), respectively (Ptrend=0.002). Among participants with prehypertension (systolic blood pressure from 120 to 139 mmHg and/or diastolic blood pressure from 80 to 89 mmHg), similar trend for the relationship of PA and incident hypertension was also found with HR (95%CI) of 0.94 (0.87, 1.01), 0.71 (0.65, 0.77) and 0.66 (0.61, 0.71) for the 2nd, 3rd and 4th quartile, respectively (Ptrend<0.001).@*Conclusion@#There was linear trend association between PA and incident hypertension. Increased PA in daily life may be a protective factor against hypertension.

9.
Chinese Journal of Preventive Medicine ; (12): 383-388, 2018.
Artículo en Chino | WPRIM | ID: wpr-806449

RESUMEN

Objective@#To investigate the association of fruit and vegetable intake with long-term changes of serum lipid levels in middle-aged Chinese and older Chinese population.@*Methods@#The study analyzed the data collected in the 2004 and 2007-2008 cohorts of China Multicenter Collaborative Study of Cardiovascular Epidemiology. Finally, 4 495 participants from 10 groups in various regions of China, who both were followed up in the two cohorts, were included for data analysis. They were aged 41-66 years in 2004. Fruit and vegetable consumption were collected with a simple food frequency questionnaire. The percent changes (Δ%) of serum TC, TG, HDL-C and LDL-C between the two surveys were calculated. Multivariate linear regression models were used to estimate the association of fruit and vegetable intake in 2004 with percentage changes of serum lipid levels during the two surveys.@*Results@#The proportions of individuals who consumed fruits <250, 250-499 and ≥500 g/week were 24.0%, 21.8% and 54.2%, respectively. The proportions of individuals who consumed vegetables <500 and ≥500 g/day were 76.7% and 23.3%, respectively. Compared with fruit intake <250 g/week, the regression coefficients (95% CI) of ΔTC% in 250-499 and ≥500 g/week group were -1.54 (-2.71, -0.37) and -1.77 (-2.79, -0.76). And the regression coefficients (95% CI) of ΔLDL-C% were -2.43 (-4.39, -0.48) and -2.89 (-4.59, -1.19). Compared with vegetable intake <500 g/d, the regression coefficients (95%CI) of ΔTC% and ΔLDL-C% in vegetable intake ≥500 g/d group were -1.01 (-1.95, -0.06) and -1.83 (-3.41, -0.24). However, fruit and vegetable intake had no relationship with ΔTG% and ΔHDL-C%.@*Conclusion@#The consumption of fruit and vegetable was inversely related to long-term changes of TC and LDL-C in middle-aged and older population, but no association was found for changes of TG and HDL-C.

10.
Chinese Journal of Cardiology ; (12): 187-191, 2018.
Artículo en Chino | WPRIM | ID: wpr-806201

RESUMEN

Objective@#To evaluate the predictive value of GRACE discharge score on the long-term out-of-hospital coronary thrombotic events (CTE) after percutaneous coronary intervention (PCI) with drug-eluting stents.@*Methods@#Present study was a prospective, observational, single center study. 10 724 consecutive patients underwent PCI in Fuwai Hospital between January and December 2013 were included, stents were implanted with conventional method. After PCI, patients were prescribed aspirin 100 mg once daily indefinitely, and either clopidogrel 75 mg once daily or ticagrelor 90 mg twice daily for at least 1 year. A total of 9 782 patients were included in the final analysis after excluding patients who did not undergo successful stent implantation, who were not discharged on dual anti-platelet therapy (DAPT), who only underwent bare-metal stents, who experienced in-hospital major bleeding, stent thrombosis, myocardial infarction (MI) or death,and who lost follow up. Clinical data were collected from all patients. 9 543 patients with complete baseline data were further analyzed for risk stratification and predictive value of GRACE discharge score. CTE was defined as stent thrombosis or spontaneous myocardial infarction. All patients were followed through Fuwai Hospital Follow-up Center, and evaluated either by phone, letter, or clinic visits or at 1, 6, 12 and 24 months after PCI. Risk stratification was performed according to the GRACE discharge score, and the predictive value of the GRACE discharge score was assessed using the receiver operating characteristic (ROC) curve.@*Results@#After 2 years follow-up, there were 95 CTE among the 9 782 patients. The patients were divided into 2 groups according to the presence or absence of CTE: CTE group (95 cases) and no CTE group (9 687 cases). GRACE discharge score was significantly higher in CTE group than no CTE group (82.98±27.58 vs. 75.51±22.46, t=-2.57, P=0.012). According to risk stratification of GRACE discharge score, the patients were divided into low-risk (≤88) group (n=6 902), moderate-risk (89-118) (n=2 988) and high-risk (>118) (n=343) groups. As compared to the low-risk group, CTE risk in moderate- and high-risk groups was 1.59 times (HR 1.59, 95%CI 1.01-2.52, P=0.046) and 3.89 times higher (HR 3.89, 95%CI 1.98-7.65, P<0.001), respectively. Further analysis showed that the GRACE score had predictive value in the total cohort for CTE (area under the receiver operating characteristic (AUROC) 0.576, 95%CI 0.512-0.640, P=0.012) and in the acute coronary syndromes(ACS) subgroup for CTE: (AUROC 0.594, 95%CI 0.509-0.680, P=0.019), but not in the non-ACS subgroup: (AUROC 0.561, 95%CI 0.466-0.657, P=0.187).@*Conclusion@#GRACE discharge score can predict the long-term out-of-hospital CTE in patients undergoing PCI with drug-eluting stents and treated with DAPT, and patients can be stratified into the low-, moderate- and high-risk groups of CTE by the GRACE discharge score.

11.
Chinese Circulation Journal ; (12): 465-469, 2017.
Artículo en Chino | WPRIM | ID: wpr-616019

RESUMEN

Methods: A cross-sectional study was conducted based on the data cohort of China multicenter collaborative study of cardiovascular epidemiology in 2007-2008. A total of 7227 participants were enrolled including 3304 male and 3923 female at the mean age of (55.6±7.1) years. Tea drinking information was collected by questionnaire; participants were stratified by gender and grouped by regular tea drinking. Relationship between tea drinking and blood lipids, lipoprotein levels were assessed by covariance analysis. Results: There were 3012/7227 (41.7%) participants (male: 58.9% and female: 27.2%) regularly drunk tea. With adjusted age, urban and rural, education level, cigarette smoking, alcohol drinking, body mass index (BMI), daily red meat intake, physical work intensity, exercise intensity, histories of hypertension, diabetes and hypercholesterolemia, in male gender, compared with non-regular tea drinker, regular tea drinker had decreased blood level of low density lipoprotein cholesterol (LDL-C), the difference was -0.12 mmol/L, P=0.0001 and increased triglyceride (TG), the difference was 0.11 mmol/L, P=0.0001; in female gender, regular tea drinker showed increased high density lipoprotein cholesterol (HDL-C), the difference was 0.06 mmol/L, P<0.0001. Conclusion: In our research, regular tea drinking was negatively related to blood LDL-C level and positively related to TG in male gender, while it was positively related to HDL-C in female gender; the above correlations were independent from possible influencing factors. The impact of long term regular tea drinking on blood lipids and lipoprotein levels should be further prospectively investigated in community based middle and aged population.

12.
Chinese Journal of Tissue Engineering Research ; (53): 3595-3601, 2017.
Artículo en Chino | WPRIM | ID: wpr-615330

RESUMEN

BACKGROUND:Subdermal contraceptive implants as a novel contraceptive method have been extensively used worldwide.OBJECTIVE:To review the research progress in the non-biodegradable and biodegradable long-term subdermal contraceptive implants and to explore their advantages and disadvantages.METHODS:A computer-based search of CNKI,Wanfang,and PubMed (1967-2015) was performed by the first author for relevant articles,using the key words of contraceptive implants,non-biodegradable,biodegradable in Chinese and English,respectively.Initially 240 articles were retrieved,and finally 70 articles were included in result analysis.RESULTS AND CONCLUSION:Long-term subdermal contraceptive implants that pass through the local capillaries into the blood circulation system can avoid the gastrointestinal absorption,improve the bioavailability of drugs,and reduce adverse drug reactions.According to the performance,there are two kinds of drug carriers,non-biodegradable and biodegradable.Although non-biodegradable implants have been widely used and the contraceptive effect is excellent,the implants must be removed surgically because they cannot be absorbed or metabolized in the body.Significant efforts have been devoted to developing biodegradable implants because they can degrade at the end of use.However,the utility of some biodegradable polymers as drug carriers in implantable applications has been hampered by their shortcomings,and further study on alternative materials is urgently required.

13.
Journal of Chinese Physician ; (12): 1776-1778, 2017.
Artículo en Chino | WPRIM | ID: wpr-705741

RESUMEN

Objective o investigate the clinical efficacy of atherectomy in the treatment of Tosaka class Ⅲ in-stent restenosis in the femoropopliteal artery. Methods From June 2013 to December 2015, 33 restenotic lesions after femoropopliteal artery stenting were retrospectively analyzed by clinical information including technical success rate, incidence of complications, improvement of postoperative symptoms and objective indicators, and target vessel patency. Results To January 2016, twenty-eight cases were followed up. The average follow-up time was 17. 9 months. Five cases were lost. The follow-up rate was 84. 9%. The technical success rate was 100%. The patency rate was 79. 9% at 6 months and 65. 8% at 1 year after surgery. Conclusions Atherectomy is safe and effective for treatment of Tosaka classⅢin-stent restenosis in femoropopliteal artery with good short-term and medium-term efficacy.

14.
Journal of Clinical Pediatrics ; (12): 616-619, 2017.
Artículo en Chino | WPRIM | ID: wpr-610400

RESUMEN

Objectives To detect gene mutation associated with hemophagocytic lymphohistiocytosis (HLH) and to identify mutation spectrum and clinical feature in HLH in children. Methods Thirty-seven (37) pediatric patients diagnosed with HLH according to 2004 clinical and laboratory criteria were enrolled from July 2012 to November 2015. Nucleotide sequences of all exons and their flanking intronic sequences of ten genes associated with HLH were amplified with PCR followed by direct sequencing. Point mutation analysis was performed after the direct sequencing. Results The median age of all the 37 patients was 2.6 years. The median ages of patients with gene mutation (n=22) and without gene mutation (n=15) was 2.09 years and 2.67 years, without statistical significance. Twenty-two patients were identified with gene mutations. All of them were heterozygous. UNC13D mutation (50%) is of the highest frequency in the above genes. The splicing mutations (38%) were the main type of UNC13D mutations,and missense mutations or frame-shift mutations were also found. There was no statistical difference in ages of onset and laboratory data of neutrophils, thrombocytes, NK cell activities within the three groups: multi-site mutations, single-site mutations and no mutations. EBV infection was detected in 70.3% patients. In mutation group, one patient died when he was in the period of inducing remission, and four patients were relapsed. Among them four patients were infected with EBV and one patients was negative at the onset while positive in recurrence. Conclusions UNC13D was the predominant causative gene in the Chinese population according our data. There was no significant relevance between age of onset, severity of disease and gene mutations. Attention should be paid to a patient with HLH gene mutation infected by EBV, which it might mean a poor prognosis.

15.
Chinese Journal of Preventive Medicine ; (12): 415-420, 2017.
Artículo en Chino | WPRIM | ID: wpr-808760

RESUMEN

Objective@#To explore the lipid accumulation product (LAP) formula for Beijing adults and to investigate the relationship between lipid accumulation product and hypertension, as well as diabetes.@*Methods@#A cross-sectional study with a representative sample of 19 606 residents in Beijing aged 18-79 years was conducted in 2011. The sex-specific hypothetical minimum waist circumference (WC) was calculated in order to obtain the more applicable LAP formula. Multivariate logistic regression was used to analyze the associations of LAP, combination of LAP and body mass index (BMI) with hypertension and diabetes.@*Results@#The LAP formula for Beijing adults was established as follows: LAP (male)= (WC-61.3) × TG, and LAP (female)= (WC-55.6) × TG. There was an obvious trend of increased risk of hypertension and diabetes with an increment in the tertiles of the LAP both in men and women. The OR (95%CI) for hypertension in the group with highest tertile LAP was 3.62 (3.11-4.22) in men, and 5.79 (4.84-6.93) in women, compared with the lowest tertile group, respectively; and the corresponding OR for diabetes was 3.47 (2.73-4.41) in men, and 4.10 (2.90-5.80) in women, respectively. Compared with the lowest tertile of LAP and normal BMI group, the OR (95%CI) for hypertension in the highest tertile of LAP and obesity group was 6.79 (5.50-8.37) in men, and 9.75 (7.76-12.25) in women, respectively; while the corresponding value for diabetes was 3.97 (2.87-5.49) in men, and 4.13 (2.78-6.14) in women, respectively.@*Conclusion@#The elevated level of LAP was associated with an increased risk of hypertension and diabetes among Beijing adults. LAP could be an important predictor for hypertension and diabetes.

16.
Chinese Journal of Medical Genetics ; (6): 81-84, 2016.
Artículo en Chino | WPRIM | ID: wpr-247730

RESUMEN

<p><b>OBJECTIVE</b>To assess the association of human leukocyte antigen DQ gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou region.</p><p><b>METHODS</b>Fifty couples with URSA (URSA group) and 66 couples with normal pregnancy history (control group) were recruited. The alleles of HLA-DQA1 and HLA-DQB1 were analyzed by polymerase chain reaction with specific sequence primers (PCR-SSP) in all subjects. The frequency distribution of HLA-DQ alleles, odds ratios (OR) between each group and sharing of HLA-DQ alleles were calculated.</p><p><b>RESULTS</b>The frequency distribution of HLA-DQB1*03:03 allele in the females with URSA was significantly higher than that healthy females (21.00% vs. 9.85%, OR=2.433, 95%CI: 1.232-4.894, χ(2)=5.657, P<0.05). The HLA-DQB1*05:03 allele was present among the healthy females with a frequency of 3.03%, and was not detected among females with URSA. For both males and females, the HLA-DQB1*05:02 allele were only typed in control group with frequencies of 6.06% and 5.30%, respectively. The sharing of HLA-DQA1 alleles in couples with URSA was increased compared with the control group (70.27% vs. 44.64%, OR=2.931, 95%CI: 1.216-7.067, P<0.05).</p><p><b>CONCLUSION</b>The increased sharing of HLA-DQA1 alleles may contribute to the susceptibility of URSA among ethnic Han Chinese from Wenzhou region. The allele of HLA-DQB1*03:03 in the females may be predisposing factor for URSA. However, the HLA-DQB1*05:02 allele in both gender and HLA-DQB1*05:03 allele in females may confer a protective effect.</p>


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Embarazo , Aborto Espontáneo , Etnología , Genética , Pueblo Asiatico , Etnología , Genética , China , Etnología , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Etnología , Genética , Cadenas alfa de HLA-DQ , Genética , Cadenas beta de HLA-DQ , Genética , Polimorfismo Genético
17.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1152-1155, 2016.
Artículo en Chino | WPRIM | ID: wpr-497759

RESUMEN

Objective To investigate the association between single nucleotide polymorphism (SNPs) (rs1053005 and rs744166) and expression level of STAT3 gene and the susceptibility to acute lymphoblastic leukemia (ALL) in Chinese children.Methods A case-control study was performed,and 184 children with ALL and 377 healthy children as controls were recruited.The genotypes of 2 SNPs were detected by using polymerase chain reaction-restriction fragment length polymorphism method.And the expression level of STAT3 gene was detected by using real-time PCR;All the data were analyzed by using SPSS 16.0 software.Results (1) In this study,the genotypes (GG,AG,AA) of rs1053005 had a significant difference between the ALL group and control group (x2 =6.737,P =0.034).Compared with control group,the A allele had a higher frequency in ALL group and A allele was a risk factor(x2 =5.853,P =0.016).But,there was no difference in frequency of genotype rs744166 between the 2 groups (x2 =1.866,P =0.393).(2) There was no significant association between genotypes and risk degree among 3 groups (high risk group,medial risk group and standard risk group) (x2 =0.335,P =0.987).(3) The expression level of STAT3 gene in patients with AA genotype was lower than that of the patients with GG genotype (t =4.758,P =0.009);and compared with patients of the standard risk group,high risk patients had a lower expression level of STAT3 gene (t =5.284,P =0.007).Conclusions The polymorphism of SNP rs1053005 was associated with ALL,with A allele being a risk factor;and the expression level of STAT3 gene maybe associated with the risk degree in ALL patients.

18.
International Journal of Laboratory Medicine ; (12): 1888-1890, 2015.
Artículo en Chino | WPRIM | ID: wpr-473907

RESUMEN

Objective To analyze distribution and drug resistance of pathogenic bacteria isolated from blood specimens of inpa-tients,so as to guiding the principle of clinical use of antibacterials and improve clinical efficacy.Methods The results of bacterial culture and drug sensitivity test of 2 125 blood specimens,from November 2012 to November 2014,in the Rizhao Hospital of Tradi-tional Chinese Medicine were retrospectively analyzed.Results A total of 233 strains of pathogens were isolated(the positive rate was 10.96%),including 57 strains of gram-positive coccus(accounted for 24.46%)and 1 74 strains of gram-negative bacilli(accoun-ted for 74.68%).The coagulase-negative staphylococci and Staphylococcus aureus were most common in gram-positive coccus,the detection rate of methicillin-resistant coagulase-negative staphylococci (MRCNS)and methicillin-resistant Staphylococcus aureus (MRSA)were 84.2% and 40.0%,respectively.The rate of drug resistance of coagulase-negative staphylococci and Staphylococcus aureus to penicillin,erythromycin and clindamycin were no less than 80.0%.The Escherichia coli,Klebsiella pneumoniae and Pseud-omonas aeruginosa were most common in gram-negative bacilli,the detection rate of extended spectrum beta-lactamases(ESBLs) producing Escherichia coli and Klebsiella pneumoniae were 35.85% and 28.13%,respectively.The sensitive rate of Escherichia coli and Klebsiella pneumoniae to imipenem were both 100.0%.Conclusion Gram-negative bacilli is the most common pathogen in this hospital and multidrug resistance is observed.Therefore,cultures of blood specimen should be timely submitted in order to guiding the rational antimicrobial application in clinic.

19.
Journal of Clinical Pediatrics ; (12): 423-425, 2015.
Artículo en Chino | WPRIM | ID: wpr-462429

RESUMEN

Objective To investigate the association of single nucleotide polymorphism (rs2295080) inmTOR gene with the susceptibility to acute leukemia (AL) in Chinese children.Methods A case-control study was performed by recruitment of 180 children with AL and 296 healthy children as controls. The genotype of this SNP was detected using PCR-RFLP. The data were analyzed by SPSS19.0.Results There was a signiifcant difference in genotypes in three groups (ALL, AML and con-trol) (P=0.026). And the SNP was associated with AL, with G allele being higher in AL group than that in controls (OR=1.413, 95%CI: 1.050-1.901,P=0.022). In ALL group, G allele was also higher than that in healthy group (OR=1.456, 95%CI: 1.052-2.015, P=0.023). However, no signiifcant association was observed in AML patients (P=0.302). In addition, ALL patients with GG gen-otype were associated with disease severity compared with patients with TT or GT genotype (OR=2.044, 95%CI: 0.569-7.341). ConclusionThe rs2295080 was associated with ALL, with G allele being a risk factor.

20.
Chinese Journal of Cerebrovascular Diseases ; (12): 72-77, 2015.
Artículo en Chino | WPRIM | ID: wpr-462044

RESUMEN

Objective To investigate the value of prevention of cerebral ischemia with multi-modality neuroelectrophysiological monitoring in intracranial aneurysm embolization. Methods The clinical data of 44 patients with intracranial aneurysm treated with endovascular embolization from May 2013 to June 2014 were analyzed retrospectively. The patients were divided into two groups according to whether they used intraoperative neuroelectrophysiological monitoring. There were 21 patients in a monitoring group and 21 in a non-monitoring group. According to the site of the aneurysms,somatosensory evoked potential ( SEP),motion evoked potential( MEP),scalp electroencephalogram,and brainstem auditory evoked potential (BAEP)were monitored,and at one day after procedure,their newly developed neurological deficits and the follow up observation after 3 months in both groups were compared and analyzed. Results The intraoperative SEP,MEP,and scalp EEG changes in the monitoring group were observed in 9,3 and 4 patients,respectively. Timely preventive measures were taken for 9 of the patients with cerebral ischemia revealed by neuroelectro-physiological monitoring. At the first day after procedure,the incidence of patients with new neurological deficit was 17. 4%(4/23)in the monitoring group,and that was 47. 6%(10/21)in the non-monitoring group. There was significant difference between the 2 groups(χ2 =4. 623;P<0. 05). There was significant difference in the good prognosis rates(87. 0%[20/23]vs. 57. 1%[12/21])after 3-month follow-up (χ2 =4. 919;P<0. 05)between the 2 groups. There were no deaths in both groups. Conclusion Multimode in combination with neuroelectrophysiological monitoring may decrease ischemic complications in aneurysm interventional treatment and improve the safety of procedure.

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