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1.
Chinese Journal of Epidemiology ; (12): 451-456, 2013.
Article in Chinese | WPRIM | ID: wpr-318377

ABSTRACT

Objective To understand the prevalence,characteristics and risk factors of major abnormal electrocardiogram (MA-ECG) in adults living in Shanghai.Methods The cross-sectional dataset of prevalence survey on diabetes and metabolic syndrome in adults,aged 20-74 years,from Shanghai,in 2007-2008,was analyzed.Demographic information,personal and,family histories of diseases were collected.Physical examination and laboratory tests were done.Subjects underwent examination on resting 12-leads electrocardiogram (ECG),ECG records were coded according to the Minnesota criteria and classified as MA-ECG or non-MA-ECG.Results A total number of 5364 subjects (2003 men,3361 women) were finally included in this analysis.(1) The standardized prevalence of MA-ECG was 7.3% (7.0% in men,7.7% in women).In both genders,the age-specific prevalence of MA-ECG significantly increased with age (Ptrend<0.01).The age-specific prevalence of MA-ECG in youths,middle aged and the elderly were 2.3%,7.7%,and 17.3% in men,and 3.3%,8.8% and 16.4% in women,respectively (both Ptren<0.01).(2) The three most common MA-ECG forms were arrhythmia (28.8%),bundle branch block (26.5%) and ST segment depression (20.0%) in men,while there appeared ST segment depression (44.6%),arrhythmia (23.0%) and combined MA-ECG (11.8%) in women.(3) Data from multivariate logistic regression analysis showed that other than age,coronary heart disease (CHD) was the only independent risk factor of MA-ECG in men,with its corresponding OR being 2.33-2.39; while in women,menopause (OR value:1.72-1.85) and hypertension (OR value:1.33-1.34) were main factors related to MA-ECG.Conclusion MA-ECG was prevalent in the middle aged and the elderly,with,arrhythmia and ST segment depression the most frequent forms of MA-ECG.Age,CHD and hypertension were the main risk factors of MA-ECG in the adults from Shanghai.

2.
Biomedical and Environmental Sciences ; (12): 30-37, 2012.
Article in English | WPRIM | ID: wpr-235574

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship of liver enzymes with hyperglycemia in a large population in Shanghai and identify the association between liver enzymes and insulin resistance.</p><p><b>METHODS</b>A total of 3 756 participants were enrolled. Each participant underwent an oral glucose tolerance test and completed a questionnaire. Anthropometric indices were recorded and serum samples were collected for measurement.</p><p><b>RESULTS</b>Liver enzymes concentrations were independently associated with i-IGT, IFG+IGT, and diabetes. With the increase of ALT and GGT concentrations, ORs for i-IGT, IFG+IGT, and diabetes increased gradually. By comparing patients in the highest quartile of GGT concentrations or ALT concentrations with those in the lowest quartile (Q1), ORs for i-IGT, IFG+IGT, or diabetes was significant after adjustment. Both ALT and GGT concentrations were linearly correlated with HOMA-IR and independently associated with HOMA-IR [ALT OR (95% CI): 2.56 (1.51-4.34) P=0.00; GGT OR (95% CI): 2.66 (1.53-4.65) P=0.00].</p><p><b>CONCLUSION</b>Serum ALT and GGT concentrations were closely related to pre-diabetes and diabetes in the Shanghai population and positively associated with insulin resistance.</p>


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Alanine Transaminase , Blood , Anthropometry , China , Glycated Hemoglobin , Metabolism , Lipid Metabolism , Liver , Prediabetic State , Blood , gamma-Glutamyltransferase , Blood
3.
Chinese Journal of Medical Genetics ; (6): 6-10, 2009.
Article in Chinese | WPRIM | ID: wpr-307980

ABSTRACT

<p><b>OBJECTIVE</b>To assess the prevalence of mutations or variants of the mitochondrial DNA (mtDNA) in familial diabetes mellitus in Chinese population, and to explore the relationship between mtDNA mutations or variants and diabetes.</p><p><b>METHODS</b>Seven hundred and seventy randomly selected, unrelated probands of diabetes pedigrees and 309 controls over 60 years of age with normal glucose tolerance were recruited. PCR-RFLP and PCR-direct sequencing were applied to the screening of mtDNA mutations or variants, including the mutations at nucleotides 3243, 3256 in tRNALeu region, 12258 in tRNASer region, 14709 in tRNAGlu region, 8296, 8344, 8363 in tRNALys region, 3316, 3394, 3426 in ND1 region and 12026 in ND4 region.</p><p><b>RESULTS</b>In the diabetic group, 13 (1.69%) had mt3243 A>G mutation, 9(1.17%) had tRNAGlu 14709 T>C variant, 17 (2.21%) carried mt3316 G>A variant, 18 (2.34%) had mt3394 T>C variant, and 28 (3.63%) harbored the 12026 A>G variant. In the control group, the 14709, 3316, 3394, 12026 variants were detected in 5(1.62%), 5(1.62%), 6(1.94%), and 9(2.91%) subjects respectively. The 3256, 8296, 8344, 8363, 3426 and 12258 point mutations were not detected both in the diabetic patients and the controls. In the diabetic group, we found two double mutations, one was A3243G and T3394C, the other was A3243G and A12026G. Except that the A3243G mutation was only observed in the diabetic group, the frequencies of the other variants mentioned above were not statistically different between the diabetic and control groups. Moreover, clinical characteristics such as age of onset, BMI, and insulin resistance index were not different between diabetic patients with and without the variants.</p><p><b>CONCLUSION</b>The tRNA (LeuUUR) 3243 A>G mutation may be the major cause of diabetes, representing 1.69% of the familial diabetes mellitus in Chinese. The other variants may be polymorphisms in this population, and the mutations not detected in our studied population may not be common contributors to diabetes mellitus in Chinese.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Age of Onset , Alleles , Asian People , Genetics , Body Mass Index , Case-Control Studies , China , DNA Mutational Analysis , DNA, Mitochondrial , Genetics , Diabetes Mellitus , Genetics , Pathology , Insulin Resistance , Genetics , Mutation , Polymorphism, Genetic
4.
Chinese Journal of Medical Genetics ; (6): 191-195, 2009.
Article in Chinese | WPRIM | ID: wpr-287426

ABSTRACT

<p><b>OBJECTIVE</b>To study the prevalence and clinical characteristics of the A to G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in familial diabetes in Shanghai, Jiangsu and Zhejiang Province of China.</p><p><b>METHODS</b>The mt3243 A to G mutation in 770 randomly selected, unrelated probands of diabetic pedigrees were screened by PCR-RFLP technique and PCR-direct sequencing. Genetic and clinical analyses were further performed in the probands and their family members.</p><p><b>RESULTS</b>Thirteen diabetic patients (13/770, 1.69%) with mt3243 A to G mutation were detected. Eleven diabetic patients and 8 normal glucose tolerance (NGT) first-degree relatives of these 13 probands were also found bearing the mutation. Seventeen patients were associated with sensory hearing loss. In the 24 patients harboring the mutation, the majority had lower body mass index (BMI), 18 showed typical maternal inheritance, 15 had sensory hearing loss, 13 had insulin resistance and 14 required insulin therapy due to secondary failure to oral hypoglycemic agents.</p><p><b>CONCLUSION</b>The mutation of mt3243 A to G in the mitochondrial tRNA(Leu(UUR)) gene is an important cause of diabetes in Shanghai, Jiangsu and Zhejiang Province of China. Mitochondrial gene mutation diabetes (MDM) is clinically characterized by early onset, emaciation, maternal inheritance, sensorineural hearing loss, and lower islet beta cell function, and some have insulin resistance.</p>


Subject(s)
Humans , Asian People , Genetics , China , Epidemiology , DNA, Mitochondrial , Genetics , Deafness , Genetics , Diabetes Mellitus , Genetics , Genetic Testing , Hearing Loss, Sensorineural , Genetics , Insulin Resistance , Genetics , Molecular Sequence Data , Mutation , Prevalence , RNA, Transfer, Amino Acyl , Genetics
5.
Chinese Medical Journal ; (24): 2547-2553, 2009.
Article in English | WPRIM | ID: wpr-307865

ABSTRACT

<p><b>BACKGROUND</b>As one of most widely-used biguanides, metformin can induce the lactic acidosis in patients with renal failure though its incidence is very low. However, lactic acidemia induced by metformin was reported in patients without renal dysfunction. It is unclear that whether lactatemia exists in diabetic patients with normal renal function in Chinese or not and its influencing factors. This study aimed to clarify the influencing factors of lactic acid, and identify a practiced clinical marker to predict the hyperlactacidemia in diabetics with normal renal function.</p><p><b>METHODS</b>The clinical data and venous blood samples of 1024 type 2 diabetic patients treated with (n = 426) or without metformin (n = 599) were collected. The lactic acid was assayed by enzyme-electrode method. The biochemical indexes included creatinine (Cr) and hepatase were measured with enzymatic procedures. The lactic acid concentrations of different Cr subgroups were compared, and the correlation and receiver operating characteristic curve analysis were used.</p><p><b>RESULTS</b>The mean lactic acid level and the proportion of hyperlactatemia of metformin group were significantly higher than that of non-metformin group (P < 0.01), but no lactic acidosis was found in all patients. The correlation and multiple stepwise regression analysis indicated that the correlative factors of lactic acid in turn were Cr, metformin, alanine transferase (ALT), body mass index (BMI), Urine albumin (Ualb), and blood urea nitrogen (BUN) in total patients; and Cr, ALT, BMI and BUN in non-metformin treated patients; Cr and ALT in metformin-group. The lactate concentration increased with the increment of Cr levels, and reached its peak at Cr 111-130 micromol/L, and the optimal cutoff of Cr in predicting hyperlactacidemia was 96.5 micromol/L.</p><p><b>CONCLUSIONS</b>Metformin can increase the incidence of lactatemia in type 2 diabetic patients without renal dysfunction. Cr, ALT, and BMI are independent associated factors of blood lactic acid levels. There is low proportion of lactatemia in type 2 diabetics without metformin therapy, the optimal cutoff of Cr to predict lactatemia in these patients is 96.5 micromol/L.</p>


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Creatinine , Blood , Diabetes Mellitus, Type 2 , Blood , Drug Therapy , Hypoglycemic Agents , Therapeutic Uses , Lactic Acid , Blood , Metformin , Therapeutic Uses , Radioimmunoassay
6.
Chinese Journal of Preventive Medicine ; (12): 489-494, 2009.
Article in Chinese | WPRIM | ID: wpr-242629

ABSTRACT

<p><b>OBJECTIVE</b>To compare the significance of the application of three diagnostic criteria of metabolic syndrome (MS), issued by the National Cholesterol Education Program Adult Treatment Panel II (ATPIII) in 2005, International Diabetes Federation (IDF) in 2005 and Chinese Diabetes Society (CDS) in 2004, in type 2 diabetes mellitus pedigrees.</p><p><b>METHODS</b>Totally,4468 subjects (including spouses) from 715 type 2 diabetic pedigrees were selected in this study. Complete laboratory data, including blood pressure, lipid profile and plasma glucose, were collected. The prevalence rates of MS and the unity of three criteria were analyzed.</p><p><b>RESULTS</b>The prevalence rates of MS were 44.94% (2008/4468), 37.87% (1692/4468) and 23.86% (1066/4468) according to the ATPIII, IDF and CDS criteria respectively. It subsequently increased in second-degree relatives, spouses, first-degree relatives and probands (ATP III: 23.78% (117/492), 35.77% (318/889), 45.40% (1077/2372) and 69.37% (496/715); IDF: 20.53% (101/492), 31.61% (281/889), 38.74% (919/2372) and 54.69% (391/715); CDS: 8.94% (44/492), 16.99% (151/889), 25.08% (595/2372) and 38.60% (276/715); ATPIII: chi2 = 266.359, IDF: chi2 = 155.950, CDS: chi2 = 165.087, respectively, P < 0.01). The prevalence rates of MS, as defined by the ATP III and IDF criteria, were higher in females than in males (ATP III: 47.47% (1156/2435) and 41.91% (852/2033); IDF: 43.00% (1047/2435) and 31.73% (645/2033); chi2 = 13.871 and 60.169, respectively, P < 0.01), and was lower in females than in males as defined by the CDS criterion (22.38% and 25.63%, respectively, chi2 = 6.423, P = 0.011). The agreement in the diagnosis of MS using ATPIII and IDF, ATPIII and CDS, IDF and CDS was 92.93%, 75.56% and 77.21% respectively. Kappa index were 0.855, 0.484 and 0.478 respectively (P < 0.01).</p><p><b>CONCLUSION</b>ATP III criterion showed the highest prevalence of MS and the percent of risk factor aggregation which best reflected the characteristics of MS in familial type 2 diabetic pedigrees.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Cholesterol , Diabetes Mellitus, Type 2 , Diagnosis , Epidemiology , Metabolic Syndrome , Diagnosis , Pedigree , Prevalence , Reference Standards
7.
Chinese Journal of Oncology ; (12): 211-214, 2008.
Article in Chinese | WPRIM | ID: wpr-348130

ABSTRACT

<p><b>OBJECTIVE</b>In cervical lesions, the overexpression of p16INK4a has been reported to be closely associated with human papillomavirus (HPV) infection. This study is designed to evaluate the role of p16INK4a as a biomarker in liquid-based cervical cytology screening.</p><p><b>METHODS</b>Seventy-four specimens from the patients in our hospital were collected for this study. After cytological examination with liquid-based cervical smears, high-risk HPV (HR-HPV) DNA was then detected by Hybrid Capture II assay, and the rest cells were immunostained for p16INK4a.</p><p><b>RESULTS</b>Of the 74 specimens, 10 were diagnosed as negative, 15 as atypical squmous cells of undetermined significance (ASC-US), 28 as low-grade squamous intraepithelial lesion (LSIL), 5 as atypical squmous cells which could not be excluded as HSIL (ASC-H), 11 high-grade squamous intraepithelial lesion (HSIL) and 5 as squamous cell carcinoma (SCC). The positive specimens of p16INK4a were 2, 5, 8, 3, 9, 5, respectively, in the above subgroups; meanwhile, the positive specimens of HR-HPV were 1, 4, 9, 3, 7, 5, respectively, in the above groups. The positive rate of both p16INK4a and HR-HPV in HSIL, ASC-H and SCC were obviously higher than that in LSIL, ASC-US and negative cases.</p><p><b>CONCLUSION</b>Positive rate of p16INK4a and HR-HPV is highly correlated with the grade of the cervical lesion. p16INK4a immunocytochemical staining may be used as a biomarker to increase the sensitivity of cervical cytology screening and the specificity of HPV test.</p>


Subject(s)
Adult , Aged , Female , Humans , Middle Aged , Young Adult , Biomarkers, Tumor , Carcinoma, Squamous Cell , Chemistry , Diagnosis , Virology , Uterine Cervical Dysplasia , Chemistry , Diagnosis , Virology , Cyclin-Dependent Kinase Inhibitor p16 , Cytodiagnosis , Methods , DNA, Viral , Immunohistochemistry , Papillomaviridae , Genetics , Papillomavirus Infections , Diagnosis , Metabolism , Uterine Cervical Dysplasia , Chemistry , Diagnosis , Virology , Uterine Cervical Neoplasms , Chemistry , Diagnosis , Virology , Vaginal Smears , Methods
8.
Chinese Journal of Epidemiology ; (12): 745-748, 2008.
Article in Chinese | WPRIM | ID: wpr-313067

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence of metabolic syndrome (MS) and its components in type 2 diabetes mellitus pedigrees.</p><p><b>METHODS</b>A total number of 4468 subjects (including spouses) from 715 type 2 diabetic pedigrees were selected in this study. Complete laboratory data including blood pressure, lipid profile and plasma glucose, were collected. All subjects who were not defined as diabetic were valued by oral glucose tolerance test. MS was diagnosed according to the definition proposed by the China Diabetes Society (CDS) in 2004.</p><p><b>RESULTS</b>(1) The prevalence of MS was 23.86% in diabetic pedigrees, and subsequently increased in second-degree relatives, spouses, first-degree relatives and probands. (2) The prevalence rates of 'at least' 1 metabolic abnormality in first-degree relatives, second-degree relatives and spouses were 80.10%, 59.76% and 70.30%, respectively. (3) Ratios on non-metabolic abnormality, 1 - 2 metabolic abnormality and MS were 19.90%, 55.02% and 25.08% in first-degree relatives, 40.24%, 50.82% and 8.94% in second-degree relatives, 29.70%, 53.31% and 16.99% in spouses, respectively. (4) Among the first-degree relatives, the common manifestation of metabolic abnormality was dyslipidemia for subjects aged below 40 years, and hyperglycemia for subjects aged over 40 years of age. (5) The prevalence of MS in first-degree relatives was higher in males than in females for subjects aged below 60 and it was higher in females than in males for subjects aged over 60.</p><p><b>CONCLUSION</b>There was significant familial aggregation of MS found in our study. The first-degree relatives of type 2 diabetic patients were high risk populations, suggesting that early recognition and prevention were important issues to be carried out.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Blood Glucose , Metabolism , Diabetes Mellitus, Type 2 , Epidemiology , Genetics , Metabolism , Glucose Tolerance Test , Hyperglycemia , Epidemiology , Lipids , Blood , Metabolic Syndrome , Epidemiology , Genetics , Metabolism , Pedigree , Prevalence
9.
Chinese Journal of Medical Genetics ; (6): 157-161, 2007.
Article in Chinese | WPRIM | ID: wpr-247363

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the genetic and clinical features of mutations and sequence variations of the transcription factor 1 gene (TCF1, HNF-1A) in Chinese with familial early-onset and/or multiplex diabetes mellitus.</p><p><b>METHODS</b>All ten exons of the TCF1 gene were screened, including exon and intron junctions, by direct sequencing method in 341 unrelated Chinese subjects, including 80 healthy controls and 261 probands of early-onset and/or multiplex diabetes pedigrees.</p><p><b>RESULTS</b>Five mutations were found in all. Four of the 5 different TCF1 mutations were newly identified novel mutations(T82M, Q130H, G253G, P353fsdelACGGGCCTGGAGC), mean body mass index of mutation carriers was 21.9 kg/m (2), and insulin secretion was impaired in the mutation carriers. In this study, the maturity-onset diabetes of the young type III (MODY3) only accounted for 3% of Chinese early-onset diabetes. Moreover, eleven substitutions were identified in 261 probands. Of them, three variants IVS1-8 (G-->A), IVS1 -128 (T-->G ) and IVS2+21 (G-->A) were not observed in 80 healthy controls and one of them IVS1-8 (G-->A) was not reported previously and the two promoter variants co-segregated with diabetes.</p><p><b>CONCLUSION</b>TCF1 gene is not a common cause of early-onset and/or multiplex diabetes among Chinese patients.</p>


Subject(s)
Adult , Female , Humans , Male , Asian People , Genetics , China , Diabetes Mellitus , Ethnology , Genetics , Pathology , Gene Frequency , Genotype , Hepatocyte Nuclear Factor 1-alpha , Genetics , Mutation , Polymerase Chain Reaction
10.
Journal of Shanghai Jiaotong University(Medical Science) ; (6)2006.
Article in Chinese | WPRIM | ID: wpr-640599

ABSTRACT

Objective To evaluate the clinical significance of glycated albumin(GA),a parameter in reflection of recent glycemic control in patients with diabetes mellitus. Methods Four hundred and forty-five patients with type 2 diabetes mellitus who were hospitalized in our hospital from May to November 2006 were enrolled into the study.The fasting plasma glucose(FPG),postprandial 2-hour blood glucose(P2hBG) and glycated hemoglobin(HbA1c) were measured,the enzymatic measurement of GA was conducted and the CGMS was performed.The correlation between GA and the other parameters monitored was analysed. Results The correlation analysis indicated that GA was well correlated with HbA1c(r=0.818,P0.05),respectively for those with HbA1c more than 7.5%,between 6.5% and 7.5%,and less than 6.5%. Conclusion GA is well correlated with HbA1c,especially in those with poor glycemic control for a long time.The correlation between GA and long-term glycemic control is stronger than that between GA and instant plasma glucose or MBG in three days.

11.
Journal of Zhejiang University. Medical sciences ; (6): 255-259, 2006.
Article in Chinese | WPRIM | ID: wpr-332162

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the difference between serum true insulin (TI) and immunoreactive insulin (IRI) in evaluating islet beta-cell function and insulin resistance.</p><p><b>METHODS</b>The arginine stimulation test was performed in 141 individuals, including 35 with normal glucose tolerance (NGT) and 106 with type 2 diabetes (T2DM). Plasma glucose (PG), TI, IRI and proinsulin (PI) levels were measured; the incremental value of TI/PG, (TI+PI)/PG and IRI/PG (delta TI/PG, delta(TI+PI)/PG and deltaIRI/PG) and the area under curve of TI/PG, (TI+PI)/PG and IRI/PG (AUC [TI/PG], AUC[(TI+PI)/PG] and AUC [IRI/PG]) after arginine stimulation were calculated to evaluate beta-cell function.</p><p><b>RESULT</b>There were positive correlations of delta TI/PG with delta (TI+PI)/PG and delta IRI/PG in both NGT and T2DM patients (r=0.68 - 0.99, P<0.01). The similar correlations of AUC [TI/PG] with AUC [(TI+PI)/PG] and AUC [IRI/PG] were also shown (r=0.62 - 0.99, P<0.01). delta TI/PG was correlated with AUC [TI/PG] in two groups (NGT r=0.96, T2DM r=0.82, P<0.01). HOMA-IRTI, HOMA-IR(TI+PI) and HOMA-IRIRI in T2DM were higher than those in NGT (P<0.01). After arginine stimulation T2DM subjects mainly presented insulin resistance and decreased insulin secretion.</p><p><b>CONCLUSION</b>The determination of TI may be more accurate than IRI in evaluating beta-cell function and insulin resistance.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Arginine , Pharmacology , Blood Glucose , Metabolism , Diabetes Mellitus, Type 2 , Blood , Glucose Tolerance Test , Insulin , Blood , Allergy and Immunology , Insulin Resistance , Insulin-Secreting Cells , Physiology , Proinsulin , Blood
12.
Chinese Journal of Medical Genetics ; (6): 652-654, 2006.
Article in Chinese | WPRIM | ID: wpr-285059

ABSTRACT

<p><b>OBJECTIVE</b>To assess the prevalence of the A to G variant at nucleotide 12026 (mt12026) of the mitochondrial NADH-dehydrogenase subunit 4 (ND4) gene in familial diabetes mellitus in Chinese population.</p><p><b>METHODS</b>The authors screened 770 randomly selected, unrelated probands of diabetic pedigrees, and 309 controls with normal glucose tolerance for the variant by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and PCR-direct-sequencing.</p><p><b>RESULTS</b>The mt12026 A --> G variant was detected in 28 diabetic patients (3.63%) and 9 controls (2.91%). The frequency of the variant mt12026 A --> G was not statistically different between diabetic patients and controls. Moreover, clinical characteristics such as age, body mass index (BMI), and insulin resistant index were not different between diabetic patients with and without the mt12026 mutation.</p><p><b>CONCLUSION</b>The mt12026 A --> G variant is a mitochondrial gene polymorphism in Chinese population, and it is unlikely that the mutation is in itself the cause of diabetes.</p>


Subject(s)
Female , Humans , Male , Middle Aged , Asian People , Genetics , Blood Glucose , Metabolism , Body Mass Index , China , DNA, Mitochondrial , Chemistry , Genetics , Diabetes Mellitus , Blood , Ethnology , Genetics , Family Health , Gene Frequency , NADH Dehydrogenase , Genetics , Point Mutation , Polymorphism, Genetic , Sequence Analysis, DNA
13.
Chinese Medical Journal ; (24): 1072-1078, 2006.
Article in English | WPRIM | ID: wpr-265250

ABSTRACT

<p><b>BACKGROUND</b>Mutations in the hepatocyte nuclear factor-1A gene cause the type 3 form of maturity-onset diabetes of the young (MODY3). This study was undertaken to determine mutations and sequence variations of the HNF-1A gene in Chinese with familial early-onset and/or multiplex diabetes mellitus.</p><p><b>METHODS</b>We screened all ten exons of the HNF-1A gene, including exon/intron junctions, by direct sequencing in 272 unrelated Chinese, including 80 healthy controls and 192 probands of early-onset and/or multiplex diabetes pedigrees.</p><p><b>RESULTS</b>In addition to one silent mutation of c.864 G > C [p.G288G] in exon4 at codon 288, which had been reported previously, a total of four novel mutations including two missense mutations (c.245C > T [p.T82M] and c. 390 G > T [p.Q130H]) and one frameshift mutation P353fsdelACGGGCCTGGAGC and one silent mutation c.759 G > T [p.G253G] were identified. Moreover, eleven substitutions were identified in 192 probands. Of these, three variants (-8 G > A, -128 T > G and IVS2 + 21 G > A) were not observed in 80 healthy controls and one of them (-8 G > A) was not reported previously and the two promoter variants co-segregated with diabetes. The genotype and allele frequencies of the other eight variants in the diabetic patients were not significantly different from those in the healthy controls. No significant relationships were observed between the eight variants of the HNF-1A gene and clinical variables (plasma glucose, insulin, C-peptide and fasting lipid profile).</p><p><b>CONCLUSION</b>The prevalence of structural mutations in the HNF-1A gene responsible for familial early-onset and/or multiplex diabetes appears to be rare among Chinese patients.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Diabetes Mellitus, Type 2 , Genetics , Hepatocyte Nuclear Factor 1-alpha , Genetics , Mutation , Pedigree , Polymorphism, Genetic
14.
Chinese Journal of Medical Genetics ; (6): 671-674, 2005.
Article in Chinese | WPRIM | ID: wpr-279972

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the prevalence of mutations and sequence variations of glucokinase gene GCK in Chinese early-onset diabetes population.</p><p><b>METHODS</b>The study was conducted in 174 unrelated Chinese residents, including 80 nondiabetic controls, 94 probands of early-onset diabetes pedigree. Direct sequencing was performed to screen all 10 exons of glucokinase gene, including promoter and exon/intron junctions.</p><p><b>RESULTS</b>No mutations were identified in coding region, but several previously reported sequence variants were identified. 5'-untranslated region of exon 1a, 84 bp upstream of the translation initiation site GGCGG to GGGGG(early-onset diabetes group G allele frequency 0.106 vs control group 0.075, P=0.355); IVS1b+12 (A-->T) (early-onset diabetes group T allele frequency 0.005 vs non-identity of this variation in control group); IVS 5+29 (G-->T) (early-onset diabetes group T allele frequency 0.027 vs control group 0.019, P=0.731); IVS 9+8 (T-->C) (early-onset diabetes group C allele frequency 0.585 vs 0.694, P=0.044). A novel variation IVS 9+49 (G-->A) (early-onset diabetes group A allele frequency 0.011 vs control 0.006, P=1.000) was identified. There were no significant relationships of the exon 1a 5'-untransted region -84 bp(C-->G), IVS 5+29 (G-->T), IVS 9+8 (T-->C) and IVS 9+49 (G-->A) variants of GCK gene to the clinical variables such as plasma glucose, insulin, C-peptide and fasting lipid profile.</p><p><b>CONCLUSION</b>The prevalence of structural mutations in glucokinase gene responsible for early-onset diabetes appears to be rare among Chinese patients.</p>


Subject(s)
Adult , Female , Humans , Male , Base Sequence , DNA Mutational Analysis , Diabetes Mellitus, Type 2 , Blood , Genetics , Genetic Predisposition to Disease , Genetics , Glucokinase , Genetics , Lipids , Blood , Mutation , Pedigree , Polymerase Chain Reaction
15.
Biomedical and Environmental Sciences ; (12): 206-211, 2003.
Article in English | WPRIM | ID: wpr-264275

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the sensitivity and specificity of body mass index (BMI), waist circumference (WC) and waist-to-hip ratio (WHR) measurements in diagnosing abdominal visceral obesity.</p><p><b>METHODS</b>BMI, WC, and WHR were assessed in 690 Chinese adults (305 men and 385 women) and compared with magnetic resonance imaging (MRI) measurements of abdominal visceral adipose tissue (VA). Receiver operating characteristic (ROC) curves were generated and used to determine the threshold point for each anthropometric parameter.</p><p><b>RESULTS</b>1) MRI showed that 61.7% of overweight/obese individuals (BMI > or = 25 kg/m2) and 14.2% of normal weight (BMI < 25 kg/m2) individuals had abdominal visceral obesity (VA > or = 100 cm2). 2) VA was positively correlated with each anthropometric variable, of which WC showed the highest correlation (r = 0.73-0.77, P < 0.001). 3) The best cut-off points for assessing abdominal visceral obesity were as followed: BMI of 26 kg/m2, WC of 90 cm, and WHR of 0.93, with WC being the most sensitive and specific factor. 4) Among subjects with BMI > or = 28 kg/m2 or WC > or = 95 cm, 95% of men and 90% of women appeared to have abdominal visceral obesity.</p><p><b>CONCLUSION</b>Measurements of BMI, WC, and WHR can be used in the prediction of abdominal visceral obesity, of which WC was the one with better accuracy.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Abdomen , Adipose Tissue , Body Composition , Body Mass Index , China , Forecasting , Hip , Models, Theoretical , Obesity , Reference Values
16.
Korean Journal of Ophthalmology ; : 29-33, 1996.
Article in English | WPRIM | ID: wpr-77088

ABSTRACT

Studies have been shown that intraocular pressure (IOP) shows a seasonal variation, but amount of change differs from study to study. The variability in their results may be due to negligence of factors that can affect IOP. Due to differences in environmental conditions of China than other countries, we investigated seasonal variations in IOP of 103 healthy male Chinese of Shanghai. IOP was measured each month over the course of fourteen months with the Goldmann applanation tonometer. The average intraocular pressures in the winter months were higher than those in the spring, summer, and autumn months. The IOP difference between winter and summer months was found to be 1.4 +/- 0.7 mmHg.This study confirms that season influences IOP. As compared to other nations, effect of seasons on IOP seems to be somewhat less pronounced in Chinese. The possible mechanisms, responsible for the seasonal variation of intraocular pressure, are also postulated.


Subject(s)
Adult , Humans , Male , Analysis of Variance , Blood Pressure , China , Intraocular Pressure/physiology , Reference Values , Seasons , Tonometry, Ocular
17.
Chinese Journal of Endocrinology and Metabolism ; (12)1985.
Article in Chinese | WPRIM | ID: wpr-676351

ABSTRACT

Objective To assay serum apelin level in obesity and newly-diagnosed type 2 diabetes mellitus (DM) patients and investigate the relationship between serum apelin level and body fat parameter,glucose and lipid metabolism and insulin resistance index,etc.Methods Sixty-two patients with type 2 DM and 72 subjects with normal glucose regulation (NGR) were selected and each group was divided into obese and non-obese subgroups according to body mass index (BMI)≥25 kg/m~2 or

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