Birth defect is increasingly an issue of public health and social concern.Newborn screening is the principal content of 3-tiered system of prevention and control for birth defects in China,which plays an important role in promotion of children's health and welfare.Widespread application of mass spectrometry,esp.,tandem mass spectrometry in newborn screening of inherited metabolic diseases has greatly contributed to the increased detection capability and efficiency.Low and medium throughput molecular diagnostic techniques including PCR,Sanger sequencing,high resolution melting analysis,and multipleligation dependent probe amplification are widely applied in diagnosis and discrimination of inherited metabolic diseases.Application of next generation sequencing in newborn screening is emerging,and will undoubtedly revolutionize the arena of newborn screening in future.However,vigorous validation and performance evaluation are warranted before it's applied in newborn screening for inherited metabolic diseases.

Prenatal diagnosis is an effective approach for preventing birth defects and improving population health.Chromosomal karyotyping,sonography,serum screening,fluorescence in situ hybridization,and PCR-based techniques are examples of current prenatal diagnostic technologies.In recent years,the clinical utility of chromosomal microarray analysis (CMA) have been well demonstrated in postnatal genetic diagnosis and it has been recommended as the first tier test for global developmental delay,mental retardation,congenital multiple anomaly,and autism spectrum disorders.CMA is now also being applied to prenatal testing.However,there are still many unresolved issues regarding the proper use of CMA in prenatal testing.The issues include but not limit to the clinical indications for prenatal CMA,interpretation for copy number variations of unknown significance,selection of array platforms,and genetic counseling.These issues should be addressed in order to properly use CMA in prenatal diagnosis.We believe close collaboration from professionals of different disciplines involved in patient care is necessary to help establish the clinical guideline and best practice recommendation for application of CMA in prenatal diagnosis.

Objective To investigate the effects of different technical conditions on the microvesicle size,envelopment rate,morphology of surface and so on in order to select the best technical conditions to prepare HCPT(10-hydroxy-camptothecin)-loaded PLGA microvesicles.Methods Microvesicles were prepared by a water/oil/water emulsion and solvent evaporation method.Various factors related to the envelopment rate and micmparticle size were studied,such as the ratio of water phase and oil phase,ultrasound power,and time,stirring time and so on.Single factor experiments and orthogonal design testing was carried out to optimize the technology of microvesicles preparation.Results The best processing conditions for microvesicles preparation were as following: HCPT 25 mg,PLGA 1.875 g,the ratio of internal and external phases 1∶15,and the PVA concentration 3%.These preparative variables produced global,smooth and glossy microvesicles.Electric charges were probably between-40 to 0 mV,microvesicles sizes ranged from 500 to 1 000 nm,envelopment rate was 79.33%,drug loading to the microvesicles was 0.478 3%,and ultrasonic imaging was clear in vitro.Conclusion Our optimize technical conditions can prepare injectable microvesicles by ultrasound.

Inherited diseases are characterized with a great variety of clinical entities, complex underlying etiologies, and absence of effective treatment, emerging as one of the significant threats to human′s, esp., the health and wellbeing women and children.It′s long been recognized as a powerful and cost-effective strategy to implement prenatal diagnosis for inherited diseases with an array of advanced molecular diagnostics to reduce the nationwide rate of birth defects.Recently, non-invasive prenatal diagnosis for inherited diseases is increasingly applied in research as well as in clinical practice.Digital PCR is a novel technology characterized with superb sensitivity, high accuracy, and absolute quantitation of DNA, and has demonstrated excellent performance in non-invasive prenatal diagnosis of several hereditary disorders, including spinal muscular atrophy, sickle cell anemia, and hemophilia.It′s believed that digital PCR has more to offer in improving non-invasive prenatal diagnosis of inherited diseases in future.

Objective To compare the changes in the management of severe preeclampsia during a ten-year period, and the maternal and perinatal outcome. Methods Totally, 305 cases of severe preeclampsia were collected in our hospital from January 1999 to December 2003. The management, mode of delivery, frequency of complications and maternal and fetal outcomes were compared with the 349 cases from January 1994 to December 1998. Results The incidence of severe preeclampsia, that being diagnosed at 0. 05], but the perinatal mortality rate of those cases

High-resolution melting analysis ( HRMA/HRM ), a simple, rapid, flexible, inexpensive closed tube approach with high sensitivity and specificity has been one of the most widely used molecular diagnostic techniques in clinicalas well as in research settings .Recently, rapid development ofinstruments , DNA dyes and analysis software significantly enhance the sensitivity , specificity and accuracy of HRM,providing a fast, efficient and economic molecular diagnostic platform for molecular diagnosis of inherited disease , molecular profiling and target therapy of cancer , identification of pathogen , as well as individualized medicine.

Objective To investigate the relative molecular weight of polysaccharides in Bletilla striata by matrix-assisted laser desorption ionizatior/time-of-flight mass (MALDI-TOF-MS). Methods 2, 5-Dihydroxybenzoic acid (DHB) as a matrix was used. By drop drying at room temperature the proportion of the matrix and polysaccharide sample was 1.5∶1. Baseline mode and laser intensity at 1 500-2 500 units were carried out. Results The relative molecular weights of polysaccharides in B. striata were 6?104-3?105, whose distribution rang was wide. Conclusion The relative molecular weights of polysaccharides in B. striata are obtained by MALDI-TOF-MS technique in the proportion of DHB-polysaccharides in B. striata 1.5∶1, which is valuable for the preparation and good quality by the direct drop drying method.

OBJECTIVE To conduct a retrospective analysis on epidemiological features of syphilis infections(documented) in our hospital.METHODS Patient data archived in an electronic case(history) system of syphilis(infection) were statistically analyzed with a(professional) statistic software package.RESULTS Totally 3 308(outpatient) cases were examined during 2001-2004 period,495 cases were positive in syphilis infection and the(positive) rate was 15.0%.Meanwhile,14 452 inpatient cases were monitored,the number of positive cases and positive rate of syphilis infection were 136 and 0.94%,respectively.The annual rates of syphilis(infection) were(increased) by 38.3%(during) the period of time tested.The percentage of female patients was on increment too on yearly basis.There was a significant difference on the gender distribution of syphilis infection(u=9.06,(P

Objective: To make out effects of different absorbents, mositure and alcohol amount on the absorption of lipophilic extract of Rhizoma Alismatis in Jinzhe Guanxin Capsules in order to solve its preparation procedure problem. Methods: The absorbent activity and absorbed dose were determined. Results: The moisture of lipophilic extract of Rhizoma Alismatis was lower than 25%, 95% alcohol amount for every gram was 0.25～ 0.5 ml when aluminum hydroxide gel was used as an absorbent. This was the best procedure condition.Conclusion: Jinzhe Guanxin Capsule preparad by aluminum hydroxide gel conforms with the preparation quality requirement.

Objective To investigate the release feature of dexamethasone sodium phosphate from thermosensitive in situ gels in vitro. Methods Rotation rheometer was used to measure the changes of viscosity with temperature. The membraneless model was applied in assessing corrosion behavior of gel using a thermostatic shaker (50 r/min) at an amplitude of 2.5 cm, taking phosphate buffered solution (pH 7.2) as releasing media. The release behavior was investigated by HPLC on a C18 reverse column DiamonsilTM (250 mm?4.6 mm, 5 ?m). The mobile phase consisted of triethylamine solution-methanol-acetonitrile (38∶28∶34), pumped at 1.0 ml/min, and the detection wavelength was set at 242 nm. Results When the temperature was near to the sol-gel transition temperature, the viscosity rose suddenly. Taking dexamethasone sodium phosphate (2 ml, pH 7.2) as media, the gel dissolution and drug release rate followed the zero order kinetics, and the cumulative gel dissolution (Q1) and cumulative drug release (Q2) equations were Q1=0.8238t (r=0.999, P