Young Chinese Population Research Articles

Normal Range of Superior Mesenteric Artery in Young Chinese Population and Its Correlation With Retroperitoneal Adipose Tissue

Normal Range of Superior Mesenteric Artery in Young Chinese Population and Its Correlation With Retroperitoneal Adipose Tissue

Association between PDE4D polymorphism and ischemic stroke in young population.

ObjectiveTo explore the association between the polymorphisms of the phosphodiesterase (PDE) 4D gene (SNP83 and SNP87) and the risk of ischemic stroke (IS) in Chinese young population.MethodsThis study included 393 patients who were divided into IS group and non-IS group. Semiconductor high-throughput sequencing technology and multivariate logistic regression analysis were performed.ResultsIn the case group, the frequency of CC genotype and C allele of the SNP83 gene was significantly higher than that in the control group. There was no significant difference in genotype frequency distribution of SNP87 between the two groups.ConclusionWe found an association between SNP83 and the risk of IS in Chinese young population from northern Henan province. There was not a significant association between SNP87 and IS in Chinese young population.

A New Clinical Screening Strategy to Distinguish HNF1A Variant-Induced Diabetes from Young Early-Onset Type 2 Diabetes in Chinese Population

Background: Maturity-onset diabetes of the young caused by HNF1A (HNF1A-MODY) is a common form of monogenetic diabetes. The patients with HNF1A-MODY are recommended to use sulfonylureas. This study was to establish a clinical strategy to identify the patients with HNF1A-MODY from clinically diagnosed early-onset type 2 diabetes (EOD) for genetic testing in Chinese population. Methods: A case control study including 125 non-related young patients with EOD and 15 probands of HNF1A-MODY was firstly conducted to evaluate the biomarkers of HNF1A-MODY and establish a clinically screening strategy (HNF1A-CSS). The effectiveness of HNF1A-CSS was secondly tested in another group of young 410 patients with EOD. All the participants were Chinese. Findings: Body mass index (BMI), fasting serum insulin (Fins), serum high density cholesterol (HDL-c) and high-sensitivity C reaction protein (hsCRP) were confirmed to be useful for differential diagnosis of HNF1AMODY. 8 probands of HNF1A-MODY in 410 patients with EOD and 1 young relative with HNF1A-MODY were identified. In the pooled analysis of all the young patients, a HNF1A-CSS, meeting at least three of four criteria (BMI 1.12 mmol/L), has 90·5% sensitivity and 73·6% specificity to screen for the patients with HNF1A-MODY in the patients with clinically diagnosed EOD. Interpretation: The HNF1A-CSS is helpful to distinguish HNF1A-MODY from EOD in young Chinese population. Funding Statement: This research was supported by National Key Research and Development Program (2016YFC1304901) and the Beijing Municipal Commission of Science and Technology funds (Z141100007414002 and D131100005313008). Declaration of Interests: No potential conflicts of interest relevant to this article were reported. Ethics Approval Statement: This study was performed in accordance with the tenets of the Declaration of Helsinki and approved by the ethics committee of Peking University People's Hospital, and written informed consent was obtained from all participants.

Vitamin D levels are associated with metabolic syndrome in adolescents and young adults: The BCAMS study

The relationship between vitamin D deficiency and metabolic syndrome (MS) remains controversial with relatively sparse data among youth. Therefore, we attempted to explicate the association of 25-hydroxyvitamin D [25(OH)D] levels with MS in Chinese adolescents and young adults. A cohort of 559 subjects at elevated risk of MS were recruited at 14-28 years of age as a follow-up to the Beijing Child and Adolescent Metabolic Syndrome Study. Subjects underwent clinical assessment including a 2h-oral glucose tolerance test. The concentrations of 25(OH)D, glucose, insulin and lipids were determined. MS was defined using the 2009 harmonized definition. The prevalence of vitamin D deficiency (< 20ng/ml) was 78.3%. After adjusting for age, gender and season, 25(OH)D concentrations were negatively correlated with neck circumference, percent body fat, LDL cholesterol, fasting and 2h-glucose levels (all P<0.05). 25(OH)D levels were significantly lower in participants with obesity, high triglycerides, type 2 diabetes, or MS, compared to their respective counterparts (all P<0.05). After adjusting for potential confounders (e.g., body mass index), participants in the lowest 25(OH)D tertile were 2.5 times more likely to exhibit MS than were those in the highest tertile (Odds Ratio: 2.48; 95% CI: 1.13-5.45, P<0.05). Vitamin D deficiency was very common in this young Chinese population at risk for MS. Given this association between low vitamin D levels and MS, the role of vitamin D supplementation in Chinese youths needs further examination, particular in those at risk for MS.

Assessment of Periodontal Biotype in a Young Chinese Population using Different Measurement Methods

Periodontal biotype is used to describe the morphological characteristics of periodontal tissues and is closely related to periodontal health and prognosis of many dental treatments. This study was undertaken to explore the periodontal biotype distribution in a young Chinese population and to evaluate the accuracy of different methods for gingival thickness (GT) measurement. A total of 372 teeth from 31 periodontally healthy subjects were included. GT was measured simultaneously by probe transparency, transgingival probing and cone-beam computed tomography (CBCT). Some other anatomic parameters, including crown width/crown length ratio, attached gingival width, labial bone thickness and papilla volume were recorded for periodontal biotype classification. As found by probe transparency, the gingivae of 222 teeth (59.68%) were thick, while those of 150 teeth (40.32%) were thin. The mean GT of included subjects was 1.03 ± 0.31 mm as measured by transgingival probing and 1.03 ± 0.24 mm as measured by CBCT. Four groups were identified by cluster analysis. Thick-flap biotype, average-scalloped biotype, average-flap biotype and thin-scalloped biotype comprised 137 teeth (36.83%), 96 teeth (25.81%), 39 teeth (10.48%) and 100 teeth (26.88%), respectively. These results demonstrate that the most common periodontal biotype in this young Chinese population was the thick-flap type with low aesthetic risk.

Vitamin D Levels Are Associated with Risk Factors for Type 2 Diabetes and Metabolic Syndrome in Chinese Youths

Evidence regarding association between vitamin D deficiency and metabolic syndrome (MS) remains controversial and relatively sparse among youth. We aimed to explore the relationship between serum 25-hydroxyvitamin D [25(OH)D] levels and risk factors for type 2 diabetes and MS in Chinese adolescents and young adults. A total of 559 subjects aged 14-28 years with high risk of MS were recruited from the Beijing Child and Adolescent Metabolic Syndrome Study cohort in 2012. All subjects underwent a 2h-oral glucose tolerance test. The concentrations of 25(OH)D, glucose, insulin and lipids were determined. MS was defined by the 2009 harmonized definition. The prevalence of vitamin D deficiency (&amp;lt; 20 ng/ml) was 78.3%. After adjusting for age, gender and visiting season, 25(OH)D levels were negatively correlated with percent body fat, LDL-C, fasting and 2h-glucose levels (all p &amp;lt; 0.05). 25(OH)D levels were significantly lower in subjects with obesity, high TG, type 2 diabetes, or MS, compared to their counterparts, respectively (all p &amp;lt; 0.05). After adjustment for potential confounders including body mass index, subjects in the lowest vs. highest tertile of 25(OH)D levels was 2.5 times more likely to have MS (Odds 95% CI: 1.13-5.45, p &amp;lt; 0.05). Vitamin D deficiency was very common in this young Chinese population with risk for MS. Given the negative association between vitamin D level and cardiometabolic risk factors, effective sun exposure and vitamin D supplementation should be encouraged in youths, particular in those with high MS risk. Disclosure S. Gao: None. L. Han: None. J. Fu: None. G. Li: None. M. Li: None. S.M. Willi: Advisory Panel; Self; Boehringer Ingelheim GmbH. Other Relationship; Self; Caladrius Biosciences, Inc.. Consultant; Self; GlaxoSmithKline plc., JAEB Center For Health Research.

Loss of Cardio-Protective Effects at the CDH13 Locus Due to Gene-Sleep Interaction: The BCAMS Study

Left ventricular mass index (LVMI) provides a metric for cardiovascular disease risk. We aimed to assess the association of adiponectin-related genetic variants resulting from GWAS in East Asians (loci in/near CDH13, ADIPOQ, WDR11FGF, CMIP and PEPD) with LVMI, and to examine whether sleep duration modified these genetic associations in youth. The 559 subjects aged 15–28 years were recruited from the Beijing Child and Adolescent Metabolic Syndrome study. Among the six loci, CDH13 rs4783244 was significantly correlated with adiponectin levels (p = 8.07 × 10−7). The adiponectin-rising allele in rs4783244 locus was significantly associated with decreased LVMI (p = 6.99 × 10−4) after adjusting for classical cardiovascular risk factors, and further for adiponectin levels, while no significant association was found between the other loci and LVMI. Moreover, we observed a significant interaction effect between rs4783244 and sleep duration (p = .005) for LVMI; the genetic association was more evident in long sleep duration while lost in short sleep duration. Similar interaction was found in the subgroup analysis using longitudinal data (p = .025 for interaction). In this young Chinese population, CDH13 rs4783244 represents a key locus for cardiac structure, and confers stronger cardio-protection in longer sleep duration when contrasted with short sleep duration.

Neck circumference may be a valuable tool for screening individuals with obesity: findings from a young Chinese population and a meta-analysis

BackgroundCentral obesity and overweight/obesity can result in various chronic non-communicable diseases, such as cardiovascular disease, metabolic syndrome, and diabetes mellitus. Waist circumference (WC) and body mass index (BMI) are widely used to measure obesity despite their limitations. For example, WC and BMI cannot be measured in pregnant women and subjects with abdominal ascites or masses. Therefore, this study aims to determine the efficacy of neck circumference (NC) as a tool for screening central obesity and overweight/obesity.MethodsA total of 1169 undergraduates aged 18–25 years were studied by a cross-sectional survey in China, 2016. Questionnaires and physical examinations were used to collect data. Receiver operator characteristic (ROC) curve was performed to determine the best threshold of NC for screening central obesity and overweight/obesity. Meanwhile, a meta-analysis was conducted to estimate the efficacy of NC for screening central obesity and overweight/obesity synthetically.ResultsNC was moderately correlated with WC and BMI. The ROC analysis showed that 37.1 cm for male and 32.6 cm for female were the best thresholds for central obesity, and 37.4 cm and 32.2 cm for overweight/obesity, respectively. The sensitivity, specificity, area under receiver operating curve (AUC) of central obesity and overweight/obesity were higher. In the meta-analysis, the pooled sensitivity, specificity, AUC and their 95%CI of NC for screening central obesity were 0.72 (0.68~ 0.75), 0.87 (0.74~ 0.94), 0.77 (0.73~ 0.80) for male and 0.73 (0.65~ 0.80), 0.80 (0.71~ 0.86), 0.82 (0.79~ 0.86) for female. For overweight/obesity, the pooled sensitivity, specificity, AUC and corresponding 95%CI were 0.83 (0.70~ 0.91), 0.77 (0.66~ 0.85), 0.86 (0.83~ 0.89) for male and 0.82 (0.71~ 0.90), 0.84 (0.61~ 0.95), 0.89 (0.86~ 0.92) for female.ConclusionNC may not be a good tool for screening individuals with central obesity. But it may be a simple and valuable tool for screening individuals with overweight/obesity, especially in females.

Interaction effect between 5-HTTLPR and HTR1A rs6295 polymorphisms on the frontoparietal network

Previous studies have shown a close relationship between the serotonin system and working memory (WM), but the neural mechanism for the role of the serotonin system on the WM is unclear. The frontoparietal network is involved in WM and is associated with the serotonin system. Therefore, this study investigated the interaction effect of the serotonin transporter-linked polymorphic region (5-HTTLPR) and the polymorphism in the serotonin 1A receptor gene (rs6295) on the frontoparietal network obtained from the independent component analysis in a large, young Chinese sample population. The current study found a significant interaction effect of 5-HTTLPR and rs6295 on the connectivity within the right frontoparietal network, specifically in the middle frontal gyrus and inferior parietal lobule. Moreover, the mean connectivity in the right inferior parietal lobule was positively correlated with WM performance. These brain network analysis findings could provide a new perspective on the neural mechanisms of gene–gene interactions and on individual differences in cognitive functions.

Haplotype analysis on relationship of ERCC2 and ERCC3 gene polymorphisms with osteosarcoma risk in Chinese young population.

The purpose of the study was to investigate the association of single-nucleotide polymorphisms (SNPs) within excision repair cross-complementation (ERCC) gene polymorphisms, additional gene-gene interaction, and haplotype combination with osteosarcoma risk. Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs. Logistic regression was performed to investigate the association between six SNPs within ERCC gene, additional gene-gene interaction on osteosarcoma risk. Haplotype analysis was performed using SNPstats ( http://bioinfo.iconcologia.net/SNPstats ). Osteosarcoma risk was significantly higher in carriers with the T allele of ERCC2-rs1799793 than those with GG genotype (GT+ TT vs. GG), adjusted OR (95% CI) = 1.56 (1.13-2.01), and higher in carriers with the A allele of ERCC3-rs4150441 than those with GG genotype (GA+ AA vs. GG), adjusted OR (95% CI) = 1.63 (1.25-2.09). GMDR model indicated a significant two-locus model (p = 0.0107) involving rs1799793 and rs4150441; cross-validation consistency of the two-locus model was 9/10; and the testing accuracy was 60.11%. Participants rs1799793-GT or -TT and rs4150441-GA or -AA genotype have the highest osteosarcoma risk, compared to subjects with rs1799793-GG and rs4150441-GG genotype, OR (95% CI) = 2.87 (1.21-4.63), after covariates adjustment. Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). We found that the T allele of ERCC2-rs1799793 and the A allele of ERCC3-rs4150441, interaction between rs1799793 and rs4150441, and haplotype containing the rs1799793T and rs11615-T alleles were all associated with increased osteosarcoma risk.

Fundamental frequency statistics for young male speakers of mandarin

In forensic speaker comparison (FSC), it is essential not only to evaluate the similarity between two (or more) samples, but also the typicality of the features in the relevant population. For the typicality, it is necessary that the population statistics related to the phonetic parameters be available. This article presents the statistics for the fundamental frequency (F0) of 100 young Chinese male speakers producing both reading and spontaneous speech. Five descriptive statistics of long-term F0, namely mean, median, mode, standard deviation (SD), and coefficient of variation (CV = SD/mean), are shown in histograms and scatter diagrams. Results show that the distributions of the five statistics are near normal. The findings are compared with the literature and discussed with respect to forensic phonetic implications. This article concludes that the results for the F0 statistics in the present study can be used in FSC casework as reference data on F0 for the young male Chinese population.

The normal range of maximum mouth opening and its correlation with height or weight in the young adult Chinese population

Background/purposeMaximum mouth opening (MMO) is an important diagnostic reference for dental clinicians. However, the relationship between either body height or weight of the individual and their subsequent MMO has, up to now, been unclear. The purpose of this study was to measure the MMO of healthy young Chinese adults and to analyze the possible correlation of MMO with either height or weight. Materials and methodsA total of 452 young Chinese adults, aged 20–35 years (238 males, 214 females) were selected for this cross-sectional study. We recorded the MMO, age, sex, height, and weight of the participants. Two standardized examiners performed the clinical oral assessments. Independent sample t tests were used to examine the difference in MMO relative to sex. Pearson's correlation and simple linear regression were used to estimate the correlation between MMO and either height or weight. ResultsThe average MMO across the 452 participants was 52.02±5.09 mm, and the average MMO of males (54.18±5.21 mm) was significantly larger than that of females (49.62±3.69 mm; P<0.001). The mean MMO was moderately positively correlated with height (r=0.54; P<0.001) and weight (r=0.50; P<0.001). In the regression model, it was estimated that, for every 10 cm or 10 kg, MMO increased by about 3.6 mm or 1.8 mm, respectively. ConclusionWith the limits of the present study, both height and weight were found to be significantly correlated with the MMO of Chinese young adults and may be significant predictors of MMO measurement.

Pharmacokinetics and effects of demographic factors on blood 25(OH)D3 levels after a single orally administered high dose of vitamin D3.

To examine the biological consequences and demographic factors that might affect the pharmacokinetics of vitamin D3 after a single high dose intervention in a young Chinese population with vitamin D insufficiency status. A total of 28 young subjects (25 to 35 years old) with vitamin D insufficiency status [serum 25(OH)D <30 ng/mL] was recruited in Shanghai, China. The subjects were orally administered a single high dose of vitamin D3 (300 000 IU). Baseline characteristics and blood samples were collected at d 0, 1, 2, 3, 7, 28, 56, 84 and 112 after the intervention. The blood biomarker levels were determined with standardized methods. The intervention markedly increased the blood 25(OH)D3 levels within the first five days (mean Tmax=5.1±2.1 d) and sustained an optimal circulating level of 25(OH)D3 (≥30 ng/mL) for 56 d. After the intervention, body weight and baseline 25(OH)D3 levels were significantly correlated with circulating 25(OH)D3 levels. No adverse events and no consistently significant changes in serum calcium, creatinine, glucose, parathyroid hormone, vitamin D binding protein, or the urinary calcium/reatinine ratio were observed. However, there was a significant increase in phosphorus after the vitamin D3 intervention. Total cholesterol and triglyceride levels were decreased at the end of the trial. The pharmacokinetics of vitamin D after intervention were influenced by baseline 25(OH)D3 levels and the body weight of the subjects. The results suggest that a single high oral vitamin D3 intervention is safe and efficient for improving the vitamin D status of young Chinese people with vitamin D insufficiency.

Association of polymorphisms in WWOX gene with risk and outcome of osteosarcoma in a sample of the young Chinese population.

The WW domain-containing oxidoreductase (WWOX) gene is a tumor suppressor gene, the abnormal expression of which will lead to osteosarcoma tumorigenesis. Polymorphisms of the WWOX gene are associated with the risk of several malignancies. We hypothesized that genetic variations in the WWOX gene were related to osteosarcoma risk and outcome. In this case-control study, we recruited 276 young osteosarcoma patients and 286 controls from the East Chinese population and genotyped seven tag single-nucleotide polymorphisms (SNPs) of the WWOX gene (rs10220974C>T, rs12918952G>A, rs3764340C>G, rs1074963C>G, rs383362G>T, rs1424110A>G, and rs12828A>G). We discovered that two SNPs (rs3764340C>G and rs383362G>T) were associated with osteosarcoma risk. The CG genotype and dominant model of rs3764340 indicated elevated risk of osteosarcoma, and similar results were found for rs383362. Furthermore, rs3754340C>G was also related to grade and metastasis risk of osteosarcoma. Taken together, our results provide the first evidence that WWOX gene polymorphisms have the potential to be predictive factors for assessing risk and outcome of osteosarcoma.

Retinal vessel oxygen saturation in a healthy young Chinese population.

To measure retinal vessel oxygen saturation in a healthy young Chinese population and to determine the effects of multiple factors (gender, age, dioptre, vessel diameter and ocular perfusion pressure - OPP) on retinal oxygen saturation. A total of 126 healthy Chinese individuals aged from 19 to 30 were included in this study. A retinal oximeter (Oxymap T1) was used to measure retinal vessel oxygen saturation by retinal imaging at two different wavelengths. The mean retinal vessel oxygen saturation (Sat_O2 ) of arterioles, venules and arteriovenous (AV) difference overall and in four separate quadrants were measured. Intra-ocular pressure, blood pressure, finger pulse oximetry value, vessel diameter and dioptre were also measured. The correlations between OPP and dioptre, OPP and vessel diameter, and dioptre and vessel diameter were analysed. And the effects of multiple factors on the retinal oxygen saturation were analysed. The mean oxygen saturation was 93.2±6.3% in the retinal arterioles, 60.4±5.3% in venules and 32.9±6.4% in AV difference. The temporal quadrants had lower measurements of arteriolar and venular oxygen saturation and AV difference compared with nasal quadrants (p<0.001). The oxygen saturation of the arterioles, venules and AV difference were unaffected by any unique factor. Arteriolar and venular retinal oxygen saturation correlated negatively with the product of dioptre and OPP. Arteriolar retinal oxygen saturation correlated positively with the product of dioptre and vessel diameter. This study provided a normal reference of Sat_O2 in healthy young Chinese individuals. It was a reflection of the normal state of retinal oxygen metabolism affected by several factors.

Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population.

Osteosarcoma is the most common primary malignancy of bone in young individuals. Genetic factors may play an important role in the tumorigenesis of osteosarcoma. Here we carried out a case-control study to investigate seven NAT2 single-nucleotide polymorphisms (rs1799929, rs120, rs1041983, rs1801280, rs1799930, rs1799931, and rs1801279) on the risk and prognosis of osteosarcoma. This study included 260 young osteosarcoma cases and 286 controls. The TaqMan method was used to determine genotypes. We found that rs1799931 G>A polymorphisms were associated with a decreased risk of osteosarcoma in young Chinese population, and rs1041983 CT genotype seemed to play a protective role in the risk of osteosarcoma. However, further analysis showed that rs1041983 polymorphisms were associated with an elevated risk of tumor metastasis, predicting poor prognosis. This study provided the first evidence for the associations between NAT2 polymorphisms and osteosarcoma risk and metastasis in Chinese population.

Assessment of dynamic smile and gingival contour in young Chinese people

This study aimed to classify the dynamic smile and to quantify the gingival line (GL), as well as apico-coronal displacement of the gingival zenith (GZ), in the maxillary anterior dentition in a young Chinese population. Two-hundred young Chinese subjects (100 men and 100 women; 20-35 years of age) with healthy dentogingival tissue were recruited. The dynamic smile process was captured using a digital camera. The smile type, GL type, the vertical distance of the GZ between the canine and the central incisor on the same side and the GZ of the lateral incisor-GL relationship were measured using a self-developed smile-analysis method. The kappa statistics was used to examine the reliability of the data recorded by the rater. The Pearson chi-square test was used to analyse the differences between subjects regarding the frequencies of smile type and GL type at α = 0.05. Data revealed that 45.5% of subjects had a high smile and 45.5% had an average smile; 58.2% of the subjects presented an upwards GL. The GZ of canine teeth was 0.33 mm apical to the corresponding central incisor and no significant difference between both sides of the GZ was observed. The GZ of the lateral incisor was located coronal to the GL in 87.9% of samples. The vertical distance between the GZ of the lateral incisor and the GL was 0.59 mm and no statistically significant difference was detected. The most common findings were a high or average smile type, combined with an upward GL. In the majority of subjects, the GZ of the lateral incisor is coronal to the GL. The apico-coronal displacement of the GZ showed bilateral symmetry.

Association between non-alcoholic fatty liver disease and arterial stiffness in the non-obese, non-hypertensive, and non-diabetic young and middle-aged Chinese population.

Non-alcoholic fatty liver disease (NAFLD) is associated with arterial stiffness in the general population. Age, obesity, hypertension, and diabetics are risk factors for arterial stiffness. In this study, we aimed to investigate the association between NAFLD and arterial stiffness as measured by brachial-ankle pulse wave velocity (baPWV) in the non-obese, non-hypertensive, and non-diabetic young and middle-aged Chinese population. A cross-sectional study with 1296 non-obese, non-hypertensive, and non-diabetic young and middle-aged (20-65 years) subjects undergoing routine medical check-ups in the International Health Care Center of the Second Affiliated Hospital of School of Medicine of Zhejiang University was carried out. Fatty liver was diagnosed by ultrasonography, and baPWV was measured using an automatic waveform analyzer. The subjects were classified into two groups according to the presence of NAFLD, and divided into a further two groups according to their baPWV. The overall incidence of NAFLD was 19.0%, and NAFLD patients had a significantly higher level of baPWV than the controls ((1321±158) cm/s vs. (1244±154) cm/s; P<0.001). The incidence of NAFLD was clearly higher in the increased baPWV group than in the normal baPWV group (29.3% vs. 16.9%; P<0.001), and the incidence increased in line with the increase of baPWV quartiles in the normal range as well as with the severity of arterial stiffness (both P for trend <0.001). Multiple linear logistic regression analysis showed that the presence of NAFLD was positively and independently associated with baPWV. Our results suggest that the presence of NAFLD is associated with arterial stiffness as measured by baPWV in the non-obese, non-hypertensive, and non-diabetic young and middle-aged Chinese population.

How Early Can Myocardial Iron Overload Occur in Beta Thalassemia Major?

BackgroundMyocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM.Methods and ResultsWe analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload.ConclusionsThe TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old.

Relationship between eNOS gene polymorphism and cerebral infarction of young and middle-aged Chinese Han population.

To discuss the relationship between the acute cerebral infarction of differently aged population and the variable number tandem repeat polymorphism of endothelial nitric oxide synthase (eNOS) gene. The genotypes of 129 acute cerebral infarction patients and 100 healthy control subjects were determined by PCR and polyacrylamide gel electrophoresis (PAGE). In the patient group, the frequency of allelic gene a was higher than that in the control group (13.56 % vs 3 %, p < 0.01), and the frequencies of the patients followed the descending order from young through middle-aged to elderly (42.31 % vs 17.2 % vs 5.8 %). The frequencies of the young, middle-aged and elderly population in the control group differed significantly (5.55 % vs 2.94 % vs 2.63 %), and those of the young and middle-aged population in the two groups also differed statistically significantly. The ab genotype of eNOS 4th intron is correlated with the acute cerebral infarction of young and middle-aged Chinese Han population that may involve allelic gene a as an independent risk factor (Tab. 3, Fig. 3, Ref. 13).