2.Association of genetic variant rs10830963 of melatonin receptor 1B gene in women with gestational diabetes mellitus
Zhifeng DENG ; Qingqing SHU ; Youhao CHEN ; Meihua XIANG ; Xiao LI ; Shenglan WU ; Minfei ZHANG ; Wei SONG
Chinese Journal of Perinatal Medicine 2011;14(11):666-669
Objective To investigate whether the genetic variant rs10830963 of melatonin receptor 1B(MTNR1B)gene is associated with increased risk for gestational diabetes mellitus (GDM).Methods Eighty-seven GDM subjects(GDM group)and 91 normal pregnant women (control group)were randomly recruited form Women and Children's Hospital of Quzhou,Zhejiang Province,China.The allele and genotype frequencies of the rsi0830963 in MTNR1B gene were determined in all participants with PCR amplification and DNA sequencing.The allele and genotype frequencies of rs10830963 were compared to determine their differences between GDM subjects and normal controls.In addition,multiple linear regression was conducted to investigate the association patterns of the risk allele with fasting glucose and HbAlc levels.Results Both GG genotype and G allele frequencies of the rs10830963 loci in the GDM group were significantly higher than those in the controls,and women with G allele and GG genotype were associated with increased GDM risk(OR=1.53,95% CI:1.005-2.324,P=0.047 and OR=2.16,95% CI:1.052-4.434,P=0.034 respectively).After adjusting for age,body mass index before pregnancy,and family history of diabetes mellitus,women carrying GG genotype still had a higher GDM risk(OR =2.07,95% CI:1.048-4.372,P =0.022).Multiple linear regression showed that the rs10830963 G allele was positively correlated with higher levels of fasting glucose(0.068 mmol/L,P=0.015)and HbAlc(0.073%,P=0.028).Conclusions Genetic variant rs10830963 in MTNR1B gene may contribute to the susceptibility to GDM in Chinese population and the rs10830963 G allele is a risk factor for the GDM susceptibility.
3.Study of bandage contact lens on cornea epithelial healing after Epi-LASIK
Biying SONG ; Ji BAI ; Yan ZHANG ; Xiaoli DENG ; Wen TANG ; Shu JIANG
Journal of Regional Anatomy and Operative Surgery 2017;26(3):212-214
Objective To observe the effect of bandage contact lens on cornea epithelial healing after Epi-LASIK,and to evaluate the efficacy and safety.Methods Prospective case-control study.The 92 cases(181 eyes) performing Epi-LASIK were devided into observation group and control group.The 46 cases(91 eyes) of the control group were covered with routine nursing and the other 46 cases (90 eyes) of the observation group were served with bandage contact lens after Epi-LASIK.The symptoms and signs,time of corneal epithelial recovery,visual acuity and pain of postoperation of the two groups were examined within one week.Results After Epi-LASIK treatment,there was no significant difference in visual acuity between the two groups(P > 0.05).At the 1 st,3rd,and 7th day after Epi-LASIK treatment,the ache grading results of the observation group were (2.53 ± 0.62),(1.39 ± 0.71),(0.07-± 0.25);and the ache grading results of control group were (3.22 ± 0.79),(1.74 ± 0.49),(0.26 ± 0.49).Pain scores of observation group were significantly lighter than that of the control group (P < 0.05).After Epi-LASIK treatment,the average time of corneal wound healing in the observation group and control group were (2.80 ±0.86) days and (4.07 ±0.68) days respectively.The average time of postoperative corneal wound healing in the observation group was shorter than control group(P < 0.05).Conclusion The application of bandage contact lens on cornea epithelial healing after Epi-LASIK treatment can reduce the pain of patients and promote the recovery of cornea in myopia patients.
4.Relationship between factors as sensation seeking, general self-efficacy and deviant peers with refusal skills among middle school students
Chinese Journal of Epidemiology 2012;33(8):792-795
Objective To explore the relationship of sensation seeking,self-efficacy,deviant peers and refusal skills related to strategy on drugs among middle school students.Methods A total of 502 students from two high schools and two vocational schools in Baise city were recruited with age distribution between 14 and 20 years.The study objects were asked to fill the sensation seeking scale,the general self-efficacy scale questionnaire on drug refusal strategies and behavior among peers.Results ( 1 ) Adolescents were more likely to use the Refuse (78.29%) and Leave strategy (77.89%) for initial drug offers and follow-up drug offers; (2)The general self-efficacy was negatively associated with the Explain and Leave strategies for initial drug offers and Explain strategy for follow-up drug offers.Sensation seeking was negatively related to the strategies on Explain and Leave for initial drug offers and follow-up drug offers.Peer influence was positively associated with both Refuse and Leave strategies for initial drug offers and follow-up drug offers; (3)Results from the logistic regression analysis showed that self-efficacy and sensation seeking were significant variables that could predict the results from the use of Explain strategy (β =-0.055 and -0.029 ) for both initial drug refusals and follow-up drug refusals and the use of Leave strategy(β =-0.057 and-0.041 ) for initial drug refusals.Conclusion There were significant effects of sensation seeking and self-efficacy in predicting Explain or Leave strategies for drug refusals among middle students.
5.The centric relation-maximum intercuspation discrepancy in adult angle's class II pretreatment patients.
Xiao DENG ; Zhe WAN ; Shu-shu HE ; Peter WAMALWA ; Song CHEN ; Zhi-yi ZHANG
West China Journal of Stomatology 2011;29(1):48-52
OBJECTIVEThis study investigates the differences in condylar position between centric relation (CR) and maximum intercuspation (MI) in Angle's Class II orthodontic patients before treatment.
METHODS80 cases, who were Angle's Class II pretreatment patients, and 50 cases, who were normal(ideal) occlusion were accepted. Dental casts were mounted on Panadent articulator with CR bite record, taken by bilateral manipulation and load testing. The differences in condylar position between CR and MI in all three spatial planes were measured using the Panadent condylar position indication (CPI).
RESULTS(1) The positive rate of CR-MI discrepancy was 92.50%(74 cases) in the group of Angle's Class II malocclusion and 10.00% (5 cases) in the group of normal occlusion(P< 0.001). 2)74.32% (55 cases) CR-MI discrepancy in 74 cases in the group of Angle's Class II pretreatment patients were coincidence discrepancy. (3)91.25% patients in the group of Angle's Class 11 malocclusion and 66.00% in the group of normal occlusion present occlusion interferences which located at the posterior teeth.
CONCLUSIONThe results suggested that orthodontists should be aware of a high incidence of condylar displacement in Angle's Class ii pretreatment patients, and measure condylar displacement before the start of comprehensive orthodontic treatment to unmask real jaw relationships and avoid possible misdiagnoses.
Adult ; Centric Relation ; Dental Arch ; Dental Articulators ; Dental Occlusion ; Female ; Humans ; Male ; Malocclusion ; Mandibular Condyle
6.Identification of a novel JAG1 mutation in a family affected by Alagille syndrome.
Ying CHENG ; Shu-Tao ZHAO ; Li GUO ; Mei DENG ; Qing ZHOU ; Yuan-Zong SONG
Chinese Journal of Contemporary Pediatrics 2016;18(11):1130-1135
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG(p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.
Alagille Syndrome
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genetics
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therapy
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Child, Preschool
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Humans
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Jagged-1 Protein
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genetics
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Male
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Mutation
7.Peritoneal fluid leptin concentration and endocrine hormone in patients with polycystic ovarian syndrome.
Song-shu XIAO ; Min XUE ; Xin-liang DENG ; Ya-jun WAN
Journal of Central South University(Medical Sciences) 2006;31(5):786-796
OBJECTIVE:
To determine whether the infertile patients with polycystic ovarian syndrome (PCOS) is related to dysregulation of peritoneal fluid and serum leptin concentration, and to investigate the relationship between the leptin and some endocrine hormones in PCOS.
METHODS:
Twenty subjects with PCOS and 20 control women were included in the study. Peritoneal fluid and serum concentration of leptin, insulin, insulin-antibody, testosterone (T), estrogen (E(2)), and progestogen (P) were measured by radioimmunoassay (RIA).
RESULTS:
Peritoneal fluid concentrations of leptin, insulin, T and insulin-antibody in PCOS patients were significantly higher than those of the control group (P<0.05). There was no statistically significant difference in peritoneal fluid E(2) and P between PCOS and the control group (P>0.05). The serum concentrations of leptin and T in PCOS were significantly higher than those of the control group (P<0.05), but the levels of insulin, E(2), P and insulin-antibody were not significantly different between the 2 groups (P>0.05). With the BMI> or =23 kg/m(2) subgroup in PCOS patients, the peritoneal fluid and serum concentrations of leptin, insulin and T were significantly higher than those of BMI 23 kg/m(2) subgroup (P<0.01). There was no significant difference in E(2)and insulin-antibody between the 2 subgroups (P>0.05). Pearson correlation analysis indicated that peritoneal fluid and serum leptin levels were positively correlated with BMI, insulin, T and insulin-antibody, but negatively correlated with E(2), with no significant correlation with P. Multiple stepwise regression analysis indicated that the factors that influenced the peritoneal fluid and serum leptin levels were BMI, insulin, T and E(2) ordinally.
CONCLUSION
Peritoneal fluid and serum leptin concentration and insulin,T, Ins-antibody level are abnormal in PCOS patients. Leptin may play an important role in the pathogenesis of PCOS. BMI is the main factor to correlate with leptin.
Adult
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Ascitic Fluid
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metabolism
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Autoantibodies
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biosynthesis
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Estrogens
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biosynthesis
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Female
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Humans
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Insulin
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biosynthesis
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immunology
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Leptin
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biosynthesis
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Polycystic Ovary Syndrome
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metabolism
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Progesterone
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biosynthesis
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Testosterone
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biosynthesis
8.Research on the structure equation model of tendency on drug abuse and related influencing factors in middle school students
Rui GUO ; Shu-Song DENG ; Jian-Cheng LIANG ; Ya-Qiong YAN ; Shi-Jiang MENG
Chinese Journal of Epidemiology 2009;30(2):123-125
Objective To understand the relationship of tendency on drug abuse and related influencing factors for middle school students.Methods A total of 603 students wcre assessed with self-made copying style scale,consciousness to resistance of smoking,drinking and resistance ability through a questionnaire.A relationship model was set up by structure equation modeling.Results Copying style and resistance ability had significantly direct influence on tendency of drug abuse(with standardized coefficients were 0.202 and 0.092 respectively).Consciousness to resistance of smoking and drinking had significantly indirect influence on tendency of drug abuse.The goodneSS of fit for the structural equation model was satisfactory,with GFI,AGFI,RMSEA as 0.981,0.972 and 0.014 respectively.Conclusion It Was meaningful to grasp some copying skills and resistance ability to lower the tendency of drug abuse in middle school students.
9.A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency.
Mei DENG ; Ying CHENG ; Sainan SHU ; Zhihua HUANG ; Yuanzong SONG
Chinese Journal of Medical Genetics 2019;36(2):116-119
OBJECTIVE:
To explore the clinical and genetic features of an infant with citrin deficiency (CD).
METHODS:
Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing.
RESULTS:
The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del].
CONCLUSION
A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.
Base Sequence
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Citrullinemia
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Female
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Humans
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Mitochondrial Membrane Transport Proteins
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genetics
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Mutation
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Pedigree
10.Study on Categorizing and Coding of Clinical TCM Information
Li WU ; Wen-Pin DENG ; Xiao-Qiong WANG ; Shu-Song MAO ; Kai CHANG ; Ling LIN
Journal of Medical Informatics 2018;39(1):55-59
From the perspective of standardization development of Traditional Chinese Medicine (TCM) information,the paper puts forward the categorizing and coding scheme of clinical TCM information,builds a frame of basic clinical TCM information classification,which consists of 6 Grade 1 categories,30 subcategories and a few detailed categories,to provide standardized support for informatization and standardization study in the area of TCM.