1.Common deafness gene mutations of non-syndromic hearing loss in Liaoning.
Ying TIAN ; Zheng WANG ; Ning YANG ; Lian HUI ; Xuejun JIANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(16):1244-1247
OBJECTIVE:
Investigate common deafness gene mutations in patients with severe and profound non-syndromic hearing loss in Liaoning in order to understand their hereditary etiologies and characteristics at the molecular level.
METHOD:
Peripheral blood samples were obtained and the DNA templates were extracted from 128 non-syndromic hearing loss patients who are sporadic in clinics. The deafness gene chip was applied to detect hot-spot deafness gene mutations including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA. Deafness etiology questionnaires, pure tone audiometry, auditory brainstem response, tympanometry and temporal bone CT were also applied.
RESULT:
Various types of gene locus mutations were seen in 52 of the 128 patients (40.6%); (1) GJB2 gene mutations (n=22) included c. 235 del C homozygous mutation (n=10), c. 235 del C heterozygous mutation (n=5); c. 176_191 del 16 heterozygous mutation (n=l); c 35 del G heterozygous mutation (n=l); c. 235 del C/c. 299_300 del AT mutation (n=l), c. 235 del C/c. 176_191 del 16 mutation (n=l), c. 35 del G/c. 176_191 del 16 mutation (n=l); c. 299_300 del AT/c. 919-2 A>G mutation (n=l), c. 235 del C/c. 919-2 A>G mutation (n=l). (2) SLC26A4 gene mutations (n=30) included c. 919-2 A>G homozygous mutation (n=6), c. 919-2 A>G heterozygous mutation (n=17), c. 2168 A>G homozygous mutation (n=l), c. 2168 A>G heterozygous mutation (n=2), c. 2168 A>G/c. 919-2 A>G mutation (n=2), c. 919-2 A>G/GJB2 c. 235 del C mutation (n=2); (3) No GJB3 and mitochondrial 12S rRNA mutation. Genetic deafness was confirmed at the gene level in 24 cases (18.8%) and 28 patients (21.9%) were diagnosed as carriers of genetic deafness gene mutations.
CONCLUSION
Genetic deafness occupies a large population in deaf community in Liaoning. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss and provide theoretical guidance.
Adolescent
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Child
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Child, Preschool
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China
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Connexins
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DNA Mutational Analysis
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Deafness
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genetics
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Female
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Genetic Testing
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Humans
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Infant
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Male
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Mutation
2.A case report of lead encephalopathy.
Hui-ping WANG ; Shu-fang ZHENG ; Ying-wen ZHENG ; Shi-tong SHI ; Jing-yan LIU
Chinese Journal of Pediatrics 2003;41(2):118-118
3.Effects of in utero exposure to inflammation on innate immune response in preterm infants
Ying WU ; Zhiwei LIU ; Juan LI ; Zheng TANG ; Hui WANG ; Ting SA
Journal of Clinical Pediatrics 2015;(2):131-135
Objective To explore the effect of in utero exposure to inlfammation on innate immune response in preterm infants. Methods Forty-seven premature infants with gestational age<35 weeks were recruited in this study. According to his-tological evidence of placental infection, all neonates were divided into intrauterine inlfammation positive group and negative group. Mononuclear cells and monocytes were isolated from umbilical cord blood, and were cultured in vitro in the presence or absence of LPS (100 ng/ml). The levels of interleukin 1β(IL-1β), interleukin 6 (IL-6), tumor necrosis factor alpha (TNF-α) and interleukin 10 (IL-10) in cord blood plasma and monocyte cultural supernatants were measured by ELISA respectively. The level of IL-1β, TNF-α, IL-6 and IL-10 mRNA were detected by Real-time PCR. Expression of HLA-DR on surface of CD14+monocytes and ratio of CD3+CD4+/CD3+CD8+T was analyzed by lfow cytometry. Results (1) The level of cord plasma IL-6 in intrauterine inlfammation positive group was signiifcantly higher than in negative group. (P=0.02). (2) After stimulation of LPS, levels of IL-1β, IL-6, TNF-α, IL-10 in supernatants were increased signiifcantly, in consistence with their mRNA expression (P<0.05) in both groups. (3) Expression of HLA-DR on surface of monocytes was signiifcantly decreased after stimulation with LPS in intrauterine inlfammation positive group (P=0.012), but was signiifcantly increased in negative group (P=0.0305). Con-clusions In utero exposure to inlfammation does not suppress the response of monocytes to LPS in preterm neonates, but impairs the antigen presenting function in monocytes.
4.Prognostic Impact of Chronic Total Occlusion on Non-infarct-related Artery in Patients of Acute ST-elevation Myocardial Infarction With Emergent Primary Percutaneous Coronary Intervention
Huiping ZHANG ; Hu AI ; Hui LI ; Ying ZHAO ; Guodong TANG ; Naixin ZHENG ; Fucheng SUN
Chinese Circulation Journal 2016;31(1):20-24
Objective: To study the prognostic impact of chronic total occlusion (CTO) on non-infarct-related artery (non-IRA) in patients of acute ST-elevation myocardial infarction (STEMI) with emergent primary percutaneous coronary intervention (PCI).
Methods: In this prospective study, a total of 185 consecutive acute STEMI patients received early stage primary PCI in our hospital from 2010-01to 2011-06 were enrolled. The patients were divided into 2 groups:non-CTO group, n=160 and CTO group, n=25. The patients were followed-up for 1 year and the primary endpoint events included the hospitalization for angina, re-MI, heart failure or revascularization and cardiac death.
Results: ①There were more patients with diabetes and three vessel disease in CTO group than those in non-CTO group (40.0%vs 20.0%, P=0.049) and (68.0%vs 36.3%, P=0.003);LVEF in CTO group was lower than non-CTO group (40.0 ± 20.1%vs 51.3 ± 15.3%, P<0.05).②The cardiac mortalities at 6-month and 1-year followed-up period were higher in CTO group than those in non-CTO group (26.3%vs 6.1%, P=0.013) and (31.6%vs 8.4%, P=0.010);1-year primary endpoint events were higher in CTO group (52.6%vs 16.8%, P=0.001). ③Multivariate regression analysis revealed that non-IRA combining CTO (HR=3.889, 95%CI 1.239-4.206, P=0.020), cardiac shock (HR=3.229, 95%CI 2.760-3.725, P=0.012) and three vessel disease (HR=2.008, 95%CI 1.549-3.372, P=0.040) were the independent predictors for 1-year mortality in patients of acute STEMI with primary PCI.
Conclusion: Non-IRA combining CTO in STEMI patients with primary PCI are usually having poor prognosis.
5.Formulation Screening of Insulin Cream and Its Effects on Skin Injury in Model Rabbits
Ying ZHOU ; Xiaoyan XUE ; Zheng HOU ; Hui BAI ; Yingying CHEN ; Xiaoxing LUO
China Pharmacy 2007;0(25):-
OBJECTIVE:To screen formulation of Insulin cream and to investigate the effects of insulin cream on wound healing in rabbits.METHODS:The best formulation of insulin cream was selected from 8 kinds of formulations with appearance and stability as index.Rabbit trauma model were induced and divided into matrix group,blank group,Insulin cream groups(high-dose,medium-dose and low-dose).Wound healing rate and healing time were compared among those groups.RESULTS:The fifth formulation possessed good appearance and stability,which included albolene,cetanol,glycerin monostearate,glycerol,etc.Compared with matrix group,the wound healing rates were obviously increased at different time points in Insulin cream groups(P
6.Enlightenment of Randomized Controlled Trial on the Design of Clinical Research of Acupuncture and Moxibustion
Xi WU ; Fanrong LIANG ; Ying LI ; Hui ZHENG ; Yulan REN ; Ke JIANG
Journal of Traditional Chinese Medicine 1992;0(08):-
The rising of evidence-based medicine requires high quality for clinical research and randomized controlled trial is considered as clinical research of the most level of evidence degree and contidence activity.This article illustrates several important and instructive designs of randomized controlled trials,which can give some reference for clinical research on acupuncture.And the developing direction of future clinical research on acupuncture is discussed.
7.Polymorphisms of vpr gene of human immunodeficiency virus type 1 in China
Hui LI ; Tiejian FENG ; Yuhuang ZHENG ; Xiaohui WANG ; Meng LIU ; Lin CHEN ; Chun LIU ; Ying LI
Chinese Journal of Infectious Diseases 2009;27(1):39-43
Objective To compare the mutation sites in human immunodefieiency virus type 1 (HIV-1) vpr gene via of HIV-1 infected individuals from different regions in China with the previous studies, and to provide information for the further study on the relationship between HIV-1 vpr gene mutations and clinical conditions of the patients. Methods Reverse transcription-polymerasc chain reaction (RT-PCR) and nested PCR were used to amplify HIV-1 vpr gene of 398 HIV-1 infected individuals. The amino acid sequences were analyzed to determine polymorphisms, deviation rate and common mutation sites of HIV-1 vpr gene. Meanwhile, the viral load, subsets of lymphocytes and clinical course of patients infected with mutated HIV-1 were analyzed. Results One hundred and fifty three positive samples which were obtained from 398 HIV-1 infected individuals were available for further analysis. The amino acids sequence typing of HIV-1 Vpr were showed that CRF01 AE was 51.63%, subtype C 24.84%, subtype B 17.65%, CRF03_ AB 3.92% and CRF08 BC 1.31%. Eighty four point three percent of 77th amino acid of HIV Vpr sequence was glutamic acid which was significantly different from what overseas researches reported that the R77Q mutation was correlated with long-term non-progression (LTNP) of AIDS. The mutations of the, 63th, 70th, 85th, 86th, 89th and 94th amino acids of HIV Vpr were likely related to the clinical remission of HIV-1 infected individuals. Conclusions M group is the main type of HIV Vpr typing in China, and CRF01 AE is predominant. Some amino acid mutation sites of HIV-1 Vpr are possibly correlated with clinical manifestations of HIV-1 infected individuals.
8.The enhancing effect of electroporation and iontophoresis on the permeation of insulin through human skin.
Yan PAN ; Hui-ying ZHAO ; Jun-min ZHENG
Acta Pharmaceutica Sinica 2002;37(8):649-652
AIMTo study the enhancing effect of electroporation and iontophoresis on the permeation of insulin through human cadaver skin in vitro.
METHODSUsing side by side two-chamber diffusion cells, the flux of insulin achieved with iontophoresis and electrophoration were compared.
RESULTSThe application of high-voltage pulse combined with iontophoresis resulted in higher flux transdermal permeation of insulin than either one technique alone (P < 0.05). Pulsing at a higher voltage increased the flux of insulin more dramatically than pulsing at a lower voltage (P < 0.01). The transdermal transport of insulin by 90 pulse of 500 V (exponential pulse generater, pulse time: 20-24 ms, pulse frequency: 3 pulse.min-1) followed by iontophoresis led to a quick input and a high steady flux.
CONCLUSIONElectroporation combined with iontophoresis can enhance the permeation of insulin significantly.
Electroporation ; methods ; Humans ; In Vitro Techniques ; Insulin ; administration & dosage ; pharmacokinetics ; Iontophoresis ; methods ; Permeability ; Skin ; metabolism ; Skin Absorption
10.Features of acupuncture randomised controlled trials published in the top four journals.
Hui ZHENG ; Fan-rong LIANG ; Ying LI
Chinese Acupuncture & Moxibustion 2010;30(8):679-682
A PubMed search is carried out using the keyword "acupuncture" from in the top four journals: New England Journal of Medicine (NEJM), The Journal of American Medical Association (JAMA), The Lancet, and British Medical Journal (BMJ). The papers with full texts on randomized controlled trials (RCTs) of acupuncture are included up till July 2009, and the corresponding trial design and trial quality in these papers are extracted and analyzed. The results reveal that papers published in these four journals are mostly on randomized controlled trials with good design, high quality and large sample size. Therefore, if Chinese researchers publish papers in these journals, appropriate trial design adhering to the characteristics of acupuncture should be used; the results should be reported according to CONSORT statement and STRICTA recommendations. Moreover, obtaining assistance from foreign research team is also important.
Acupuncture Therapy
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Animals
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Humans
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Periodicals as Topic
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PubMed
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Randomized Controlled Trials as Topic
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Research Design