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.

Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang,China

Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate （NSCL/P） in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P.Blood of every member was drawn for DNA extraction and analysis.Genotypes were available for 382 autosomal short tandem repeat （STR） markers from the ABI Prism Linkage Mapping Set version 2.5.Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores,multipoint heterogeneity parametric LOD scores （HLODs）,and multipoint nonparametric linkage score （NPL）.Results The initial scan suggested linkage on Chromosomes 1,2,and 15.In subsequent fine mapping,1q32-q42 showed a maximum multipoint LOD score of 1.9（empirical P=0.013） and an NPL score of 2.35 （empirical P=0.053）.For 2p24-p25,the multipoint NPL increased to 2.94 （empirical P=0.007）.2-locus interaction analysis obtained a maximum NPL score of 3.73 （P=0.00078） and a maximum LOD score of 3 for Chromosome 1 （at 221 cM） and Chromosome 2 （at 29 cM）.Conclusion Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42,suggesting a susceptibility locus in this region.Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25.The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25,and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction.

Effect of system-reservoir correlations on temperature estimation

In many previous temperature estimation schemes,the temperature of a sample is directly read out from the final steady state of a quantum probe,which i5 eoupled to the sample.However,in these studies,information of eorrelations between system(the probe) and reservoir(the sample) is usually eliminated,leading the steady state of the probe is a canonical equilibrium state with respect solely to system’s Hamiltonian.To explore the influence of system-reservoir correlations on the estimation precision,we investigate the equilibration dynamics of a spin interacting with a finite temperature bosonic reservoir.By incorporating an intermediate harmonic oscillator or a collective coordinate into the spin,the system-reservoir correlations can be correspondingly encoded in a Gibbs state of an effective Hamilton,which is size consistent with the original bare spin.Extracting information of temperature from this corrected steady state,we find the effect of the systemreservoir correlations on the estimation precision is highly sensitive to the details of the spectral density function of the measured reservoir.

Effect of Selective Dorsal Neurectomy on Erectile Function in Rats

Objective This study aimed to investigate the effect of penile selective dorsal neurectomy(SDN)on erectile function in rats.Methods Twelve adult male Sprague-Dawley rats(15 weeks old)were divided into three groups(n=4 per group):in control group,rats received no treatment;in sham group,rats underwent a sham operation;in SDN group,rats underwent SDN with half of the dorsal penile nerve severed.The mating test was performed,and the intracavernous pressure(ICP)assessed six weeks after the surgical treatment.Results At postoperative six weeks,the mating test revealed no significant difference in mounting latency and mounting frequency among the three groups(P>0.05),while the ejaculation latency(EL)was significantly longer and ejaculation frequency(EF)lower in the SDN group than in the control and sham groups(P<0.05).There were no significant differences in preoperative and postoperative ICP and ICP/mean arterial blood pressure(MAP)among the three groups(P>0.05).Conclusion SDN does not adversely affect the erectile function and sexual desire of rats,and at the same time it can reduce EL and EF,providing an application basis for SDN in the clinical treatment of premature ejaculation.

Introducing Chinese food therapy： a review of origin, developing course and modern application

Objective： This review introduced the origin, developing course and modern application of Chinese food therapy （CFT） in traditional Chinese medicine to enrich our understanding of relevant concepts and ways. Methods： PubMed, EMBASE, CBM, CNKI, VIP and Wanfang Databases were searched for papers on a range of terms relating to CFT. 41 references were finally selected for this review. Results： The development of CFT is comprised of five important periods in Chinese history. They axe as following： the infancy period represented by the idea of homogeny of medicine and food; theoretical development period represented by Inner Canon of Yellow Emperor, Shennong 1＇ Classic of Materia Medica and Treatise on Febrile and Miscellaneous Diseases; specialized volumes on CFT represented by Dietotherapy Worth a Thousand Gold; representative monographs on CFT represented by Dietetic Materia Medica and Principles of Correct Diet and the perfect period represented by integration of ancient food therapy practice and modern nutriology. Conclusion： CFT harbors a long and profound history, making great contribution to people＇s health maintenance and illness prevention. With the further development of integrative medicine, CFT may play a more important role in clinics and family health care based on integration of syndrome differentiation and disease differentiation.