Correlation Between Birth Defects and Dietary Nutrition Status in a High Incidence Area of China

Objective To investigate the association between birth defects and dietary nutrient intake in a high risk area of China. Methods A dietary survey was performed and serum folic acid was measured in women whose pregnancy was affected by neural tube defects （NTDs） or unaffected by any birth defects （BDs） in Zhongyang and Jiaokou Counties in Shanxi Province of China. ResuIts The local average consumption of foods including dark green vegetables, fruits, fat and meat, and nutrient intake （e.g. energy, protein, retinol, riboflavin, vitamin E, and selenium） were lower than the national average level. In women of childbearing age, these regions, the intake of nutrients was much lower than the recommended nutrient intake （9%-77%）. The case-control dietary nutrition study of women whose pregnancy was affected by BDs （including NTDs and congenital heart defects） demonstrated that, in early pregnancy, adequate nutrition （i.e. eating meat, fresh vegetables, fruit more than once a week） was a protective factor, while eating germinated potatoes was a risk factor. The geometrical mean （pS- p95） of serum folic acid in women with NTD birth defects was 9.6 nmol/L （3.6, 23.03）, which was significantly lower than that in normal women （14.03 nmol/L）. Conclusion Women of childbearing age in the two counties of Shanxi Province, China, have a marked insufficient intake of some nutrients, especially folic acid, zinc, vitamins A and B12. This nutrient deficiency may be an important risk factor for the high prevalence of birth defects in these regions. Therefore, adequate dietary nutrition in early pregnancy can prevent BDs.

Relationship Between Polymorphism of Cystathionine beta Synthase Gene and Congenital Heart Disease in Chinese Nuclear Families

Objective To study the relationship between polymorphism of cystathionine beta synthase （CBS） gene and development of congenital heart disease （CHD）. Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes （w/w, w/m, and m/m） in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents＇ genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.

苏州某社区高血压患者视网膜病变与尿白蛋白/肌酐的关系

目的:探讨苏州某社区高血压患者视网膜动脉狭窄的危险因素及与尿白蛋白/肌酐的(UACR)关系,为靶器官损害的预防、延缓提供一定依据。方法:本研究采用横断面调查的方法,纳入高血压患者1 983例,根据眼底检测情况分成正常组944例,狭窄组1 039例。收集基线资料及进行尿白蛋白/尿肌酐测定,分析视网膜动脉狭窄危险因素及与UACR的关系。结果:两组患者年龄、糖尿病水平比较,差异均有统计学意义(P<0. 05);年龄(OR=1. 013,P=0. 011)、糖尿病(OR=1. 352,P=0.008)为视网膜动脉狭窄的危险因素;高血压视网膜病变(HR)检出率为95.56%,其中以Ⅰ级和Ⅱ级轻度病变为主;两组患者白蛋白尿分组差异有统计学意义(P<0.05),其中眼底狭窄组大量白蛋白尿占比65. 59%,高于微量白蛋白尿54. 21%,高于正常组50.52%。结论:年龄和糖尿病是高血压患者视网膜动脉狭窄的危险因素,视网膜病变与UACR有关系,社区应加强健康宣教,早期进行视网膜、肾脏筛查,预防、延缓病情进展。

Upregulated inflammatory associated factors and blood-retinal barrier changes in the retina of type 2diabetes mellitus model

AIM： To examine the expression of high mobility group box-1（HMGB-1） and intercellular adhesion molecule-1（ICAM-1） in the retina and the hippocampal tissues; and further to evaluate the association of these two molecules with the alterations of blood-retinal barrier（BRB） and blood-brain barrier（BBB） in a rat model of type 2 diabetes.METHODS： The type-2 diabetes mellitus（DM） model was established with a high-fat and high-glucose diet combined with streptozotocin（STZ）. Sixteen weeks after DM induction, morphological changes of retina and hippocampus were observed with hematoxylin-eosin staining, and alternations of BRB and BBB permeability were measured using Evans blue method. Levels of HMGB-1 and ICAM-1 in retina and hippocampus were detected by Western blot. Serum HMGB-1 levels were determined by enzyme-linked immunosorbent assay（ELISA）.RESULTS： A significantly higher serum fasting blood glucose level in DM rats was observed 2wk after STZ injection（P 〈0.01）. The serum levels of fasting insulin,Insulin resistance homeostatic model assessment（IRHOMA）,total cholesterol（TC）, total triglycerides（TG） and low density lipoprotein cholesterol（LDL-C） in the DM rats significantly higher than those in the controls（all P 〈0.01）.HMGB-1（0.96±0.03, P 〈0.01） and ICAM-1（0.76±0.12, P 〈0.05） levels in the retina in the DM rats were significantly higher than those in the controls. HMGB-1（0.83±0.13, P 〈0.01） and ICAM-1（1.15 ±0.08, P 〈0.01） levels in the hippocampal tissues in the DM rats were alsosignificantly higher than those in the controls. Sixteen weeks after induction of DM, the BRB permeability to albumin-bound Evans blue dye in the DM rats was significantly higher than that in the controls（P 〈0.01）.However, there was no difference of BBB permeability between the DM rats and controls. When compared to the controls, hematoxylin and eosin staining showed obvious irregularities in the DM rats.CONCLUSION： BRB permeability increases significantly in rats with type-2 DM, which may be associated with the up-regulated retinal expression of HMGB-1 and ICAM-1.

Association of β3 Adrenergic Receptor and Peroxisome Proliferator-activated Receptor Gamma 2 Polymorphisms With Insulin Sensitivity:A Twin Study

Objective To study the effect of β3 adrenergic receptor （β3AR） Trp64Arg and peroxisome proliferator activated receptor gamma 2 （PPAR72） Prol2Ala polymorphisms on insulin resistance. Methods One hundred and eight dizygotic twin pairs were enrolled in this study. Microsatellite polymorphism was used to diagnose zygosity of twins. Insulin sensitivity was estimated with logarithm transformed homeostasis model assessment （HOMA）. PCR-RFLP analysis was performed to detect the variants. As a supplement to the sib-pair method, identity by state （IBS） was used to analyze the association of polymorphisms with insulin sensitivity. Results The genotype frequencies of Trp64Trg, Trp64Arg, and Arg64Arg were 72.3%, 23.8%, and 3.9%, respectively, while the genotype frequencies of Pro12Pro, Pro12Ala, and Ala12Ala were 89.9%, 9.6%, and 0.5%, respectively. For β3AR Trp64Arg the interclass co-twin correlations of Waist-to-hip ratio （WHR）, blood glucose （GLU）, and insulin （INS）, homeostasis model assessment insulin resistance index （HOMA-IR） of the twin pairs sharing 2 alleles of IBS were greater than those sharing 0-1 allele of IBS, and HOMA4R had statistic significance. For PPAR3t2 Prol2Ala most traits of twin pairs sharing 2 alleles of IBS had greater correlations and statistic significance in body mass index （BMI）, WHR, percent of body fat （PBF） and GLU, but there were low correlations of either insulin or HOMA-IR of twin pairs sharing 1 or 2 alleles of IBS. The combined effects of the two variations showed less squared significant twin-pair differences of INS and HOMA-IR among twins sharing 4 alleles of IBS. Condusions β3AR Trp64Arg and PPAR）,2 Pro 12Ala polymorphisms might be associated with insulin resistance and obesity, and there might be slight synergistic effects between this two gene loci, and further studies are necessary to confirm this finding.

Unusual Patterns of Neural Tube Defects in a High Risk Region of Northern China

Objective To study the prevalence of different types of neural tube defects （NTDs） in Luliang Prefecture, Shanxi province, where the prevalence of NTDs is unusually high and the correlation between NTDs prevalence and patterns. Methods A surveillance population-based birth defects was performed in Luliang Prefecture, Shanxi province. Results The results of our study showed that the prevalence of NTDs was 2-fold higher in Luliang Prefecture than in other areas of Shanxi province. Unusual patterns of NTDs were found, however, multiple NTDs were relatively common in Luliang Prefecture, accounting for over 13% of all NTDs cases in China. Conclusion The prevalence of NTDs is associated with its patterns.

The association between socioeconomic status and visual disability among older adults in China

AIM: To investigate the association between socioeconomic status(SES) and visual disability(VD) among older Chinese adults. METHODS: We obtained data from the Second National Sample Survey on Disability, conducted in China in 2006. A total number of 192 375 older adults(aged≥65 y) were screened for suspected VD via interviews with trained examiners. Those who screened positively for VD were referred to ophthalmologists to obtain a final diagnosis. RESULTS: VD was prevalent among 7.29% of Chinese adults aged 65 and older, and was higher in rural areas(8.71%) than in urban areas(4.82%). After adjusting for SES indicators and covariates, we found that lesseducated older adults were more likely to suffer from VD, with an odds ratio(OR) of 2.50(95%CI: 2.26-2.82) for illiterates, compared with those who graduated from senior high school or above. Older adults who were in the lowest income quintile were more at risk of VD, with an OR of 1.81(95%CI: 1.68-2.95), compared with adults in the highest income quintile. In urban areas, when compared with adults who graduated from senior high school or above, those who did not continue their education after junior high school, primary school, or those who were illiterate, were more likely to suffer from VD, with an OR of 1.35(95%CI: 1.51-1.59), 1.84(95%CI: 1.60-2.12), and 2.63(95%CI: 2.27-3.04), respectively. Lower levels of income were statistically significant when associated with VD. In rural areas, adults who were illiterate had an OR of 2.21(95%CI:1.75-2.79) when compared to adults with senior high school or above education level. Per capita, household income remained significantly associated with VD. Older adults who were ≥85, female, single, and residing in rural areas were associated with higher risks of VD. CONCLUSION: Individual-level SES among the elderly, in the form of education and income, is associated with VD among elderly Chinese adults in both urban and rural areas; however, the association is stronger in rural areas. Further studies are still required to explore the mechanism behind the relationships.

Prediction of Neural Tube Defect Using Support Vector Machine

Objective To predict neural tube birth defect （NTD） using support vector machine （SVM）. Method The dataset in the pilot area was divided into non overlaid training set and testing set. SVM was trained using the training set and the trained SVM was then used to predict the classification of NTD. Result NTD rate was predicted at village level in the pilot area. The accuracy of the prediction was 71.50% for the training dataset and 68.57% for the test dataset respectively. Conclusion Results from this study have shown that SVM is applicable to the prediction of NTD.

Intrauterine Infections and Birth Defects

Intrauterine infection is an important cause of some birth defects worldwide. The most common pathogens include rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. General information about these pathogens in epidemiology, consequence of birth defects, and the possible mechanisms in the progress of birth defects, and the interventions to prevent or treat these pathogens?infections are described. The infections caused by rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. are common, yet they are proved to be fatal during the pregnant period, especially during the first trimester. These infections may cause sterility, abortion, stillbirth, low birth weight, and affect multiple organs that may induce loss of hearing and vision, even fetal deformity and the long-term effects. These pathogens?infections may influence the microenvironment of placenta, including levels of enzymes and cytokines, and affect chondriosome that may induce the progress of birth defect. Early diagnosis of infections during pregnancy should be strengthened. There are still many things to be settled, such as the molecular mechanisms of birth defects, the effective vaccines to certain pathogens. Birth defect researches in terms of etiology and the development of applicable and sensitive pathogen detection technology and methods are imperative.

Effect of Pathoanatomic Diagnosis on the Quality of Birth Defects Surveillance in China

Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoauatomy of congenital malformations. Methods Data used in this study were obtained fi＇om Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated. Results The proportion of dead fetuses and stillbirths with or without congenital malformations was 84.4% （135/160） and 15.6% （25/160）, respectively. There were 16 categories of major external and internal birth defects in 135 cases of such defects. Congenital heart defects, anencephaly and spina bifida had a higher prevalence rate in the study period. The prevalence rate of non-malformation death and birth defects 〈 28 gestational weeks and internal anomalies ≥ 28 gestational weeks was 14.61% （61/4175） and 17.25% （72/4175）, respectively. A total of 413 in situ anomalies were found in 135 cases of autopsy. Spina bifida, anencephaly, congenital heart defects, aplasia or accessory lobe of lung, renal agenesis and dysplasis and congenital hydrocephaly were more closely associated with severe malformations than with mitis malformations. The cases of dead fetuses and stillbirths with multiple malformations （/〉 2 in situ anomalies） had a higher proportion （74.1%）, whereas those with isolated malformations had a lower proportion （25.93%）. Conclusion The occurrence of congenital malformations in different embryonic developmental stages affects multiple organs. Postmortem examination of internal and multiple malformations of fetal deaths and stillbirths can provide more accurate diagnostic information for birth defects.

Early-fusion based pulsar identification with smart under-sampling

The discovery of pulsars is of great significance in the field of physics and astronomy.As the astronomical equipment produces a large number of pulsar data,an algorithm for automatically identifying pulsars becomes urgent.We propose a deep learning framework for pulsar recognition.In response to the extreme imbalance between positive and negative examples and the hard negative sample issue presented in the High Time Resolution Universe Medlat Training Data,there are two coping strategies in our framework:the smart under-sampling and the improved loss function.We also apply the early-fusion strategy to integrate features obtained from different attributes before classification to improve the performance.To our best knowledge,this is the first study that integrates these strategies and techniques in pulsar recognition.The experiment results show that our framework outperforms previous works with respect to either the training time or F 1 score.We can not only speed up the training time by 10×compared with the state-ofthe-art work,but also get a competitive result in terms of F1 score.

A case report:A rare case of infant gastrointestinal canthariasis caused by larvae of Lasioderma serricorne(Fabricius,1792)(Coleoptera:Anobiidae)

Background:Canthariasis is a disease of humans caused by the infestation of beetle larvae.It is the second important insectal disease after myiasis.Several species of beetles are reported to cause the disease in gastrointestinal tract,urogenital system,nasal sinuses,ears and faces of mammals.The cigarette beetle Lasioderma serricorne is a widespread and destructive pest that usually feeds on tobacco,tea,beans,cereal grains,and animal and plant specimen.While there was no previous evidence of human infestation by this worm,we report the first case of L.serricorne infestation in a baby girl in China.Case presentation:Here the case,an eight-month-old baby girl with irritable feeling,rubbing eyes,history of contact with mud and eating oranges twice during five days before attendance,and having“worms”in her stool was admitted to the First Affiliated Hospital of Sun Yat-sen University,Guangzhou,China.The clinical examination revealed that the pulse rate,blood pressure and temperature were regular,and the examination of the head,neck,and chest were unremarkable.The stool specimens containing“worms”were sent to the Department of Parasitology,Zhongshan School of Medicine,Sun Yat-sen University.The worms were recovered,studied morphologically using naked eyes and anatomical lens,PCR analyzed targeting cytochrome oxidase subunit 1(COX1)and 18S rRNA genes,examined by sequence analyses of the PCR products and finally classified by phylogenetic analysis to identify their species.Based on the findings,the worms were diagnosed as the larvae of L.serricorne.Conclusion:This report implies that the baby had an infestation with the larvae of L.serricorne in the gastrointestine.During contact with mud or eating oranges by the girl,worm eggs were swallowed into the stomach and resisted gastric acid digestion which eventually hatched into larvae and caused canthariasis.The 8 months girl had underdeveloped immune system which might facilitate the disease.This report implicates that L.serricorne can infest human accidentally and cause canthariasis that may lead to severe damage to infant and older patient upon involvement of important organs of the body.The patients once diagnosed having canthariasis should be treated in time.

Parasitology should not be abandoned:data from outpatient parasitological testing in Guangdong,China

Over the past six decades,the Chinese government made parasitoses with a high disease burden,including soiltransmitted nematode infections,malaria,leishmaniasis,filariasis,and schistosomiasis,a public health priority because they were seen to be crucial impediments to the development of rural areas.As a result,these debilitating parasitic diseases that used to be widely prevalent have been well controlled or eliminated.Consequently,less attention has been paid to parasitic infection during the rapid development of the economy,especially in developed areas.However,our investigations conducted in the parasitological laboratory of Sun Yat-sen University(Guangzhou,Guangdong,China)show that emerging parasitic diseases still threaten many people’s health,with 340 of 880 outpatients(38.6%)receiving a diagnosis of parasitic disease,among whom 201(59.1%)had clonorchiasis and 120(35.3%)had taeniasis/cysticercosis.Furthermore,our doctors are not equipped with sufficient parasitology knowledge because this discipline is not able to maintain attraction.Many parasitic infections that result in severe consequences are treatable and preventable,but the phenomena of misdiagnosis and missed diagnosis are common and merit attention.

Nomogram to predict pregnancy outcomes of emergency oocyte freeze-thaw cycles

Background:Existing clinical prediction models for in vitro fertilization are based on the fresh oocyte cycle,and there is no prediction model to evaluate the probability of successful thawing of cryopreserved mature oocytes.This research aims to identify and study the characteristics of pre-oocyte-retrieval patients that can affect the pregnancy outcomes of emergency oocyte freeze-thaw cycles.Methods:Data were collected from the Reproductive Center,Peking University Third Hospital of China.Multivariable logistic regression model was used to derive the nomogram.Nomogram model performance was assessed by examining the discrimination and calibration in the development and validation cohorts.Discriminatory ability was assessed using the area under the receiver operating characteristic curve(AUC),and calibration was assessed using the Hosmer–Lemeshow goodness-of-fit test and calibration plots.Results:The predictors in the model of“no transferable embryo cycles”are female age(odds ratio[OR]=1.099,95%confidence interval[CI]=1.003–1.205,P=0.0440),duration of infertility(OR=1.140,95%CI=1.018–1.276,P=0.0240),basal follicle-stimulating hormone(FSH)level(OR=1.205,95%CI=1.051–1.382,P=0.0084),basal estradiol(E2)level(OR=1.006,95%CI=1.001–1.010,P=0.0120),and sperm from microdissection testicular sperm extraction(MESA)(OR=7.741,95%CI=2.905–20.632,P<0.0010).Upon assessing predictive ability,the AUC for the“no transferable embryo cycles”model was 0.799(95%CI:0.722–0.875,P<0.0010).The Hosmer–Lemeshow test(P=0.7210)and calibration curve showed good calibration for the prediction of no transferable embryo cycles.The predictors in the cumulative live birth were the number of follicles on the day of human chorionic gonadotropin(hCG)administration(OR=1.088,95%CI=1.030–1.149,P=0.0020)and endometriosis(OR=0.172,95%CI=0.035–0.853,P=0.0310).The AUC for the“cumulative live birth”model was 0.724(95%CI:0.647–0.801,P<0.0010).The Hosmer–Lemeshow test(P=0.5620)and calibration curve showed good calibration for the prediction of cumulative live birth.Conclusions:The predictors in the final multivariate logistic regression models found to be significantly associated with poor pregnancy outcomes were increasing female age,duration of infertility,high basal FSH and E2 level,endometriosis,sperm from MESA,and low number of follicles with a diameter>10 mm on the day of hCG administration.