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 assess the impact of tranexamic acid on visible and hidden blood loss after the preliminary unilateral total hip arthtoplasty (THA).Methods The study involved 60 patients who received primary unilateral THA due to femoral neck fracture from March 2010 to September 2011.They were 18 males and 42 females,at 58 to 86 years of age (average 74.5 years).They were divided into Group A (n =20),not given tranexamic acid,Group B (n =20),given tranexamic acid in operation,Group C (n =20),given tranexamic acid at preoperative one hour according to stratified random method.Total red blood cell loss,visible red blood cell loss,and hidden red blood cell loss in each group were calculated.Results Visible red blood cell loss in Groups A,B,and C was (95.4 ± 17.7) ml,(45.5 ± 11.5) rnl,and (45.3 ± 8.4) ml respectively.Moreover,difference of visible red blood cell loss was significant between Groups A and B (P ＜ 0.05),but insignificant between Groups B and C (P ＞ 0.05).Hidden red blood cell loss in Groups A,B,and C was (322.4 ± 57.7) ml,(203.8 ±46.6) ml,and (137.6 ± 34.7) ml respectively,with significant difference between Groups A and B (P＜0.05) and between Groups B and C (P＜0.05).Conclusions Tranexamic acid reduces the visible and hidden blood loss in primary unilateral THA significantly.While tranexamic acid administered at preoperative one hour gains advantage of less hidden blood loss over the intraoperative administration.

Objective:To examine the social support mechanism of pet ownership and pet attachment.Method:A total of 321 pet owners and 418 non pet owners above 40 years in Beijing were measured with questionnaires.Results: (1) Pet ownership showed significant correlations with physical health and life satisfaction.Compared with non pet owners,pet owners had better physical health and life satisfaction (β=0.074;P<0.05,β=0.110;P<0.01).(2)Pet ownership could change the effect of recent life events on the physical health but not on life satisfaction (Z=2.59,P<0.01).(3) Pet attachment showed significant correlations with life satisfaction.The pet owners with more pet attachment had higher life satisfaction.Conclusions:Pet ownership has significant main effect of social support as well as buffering effect of social support.They appear as the significant moderating effects on recent life events and physical health.Pet attachment has significant main effect of social support,and few buffering effects of social support.

Objective To investigate the current status of postoperative life quality of 2-to 12-yearold children with congenital heart disease,to compare results between 2-to 4-year-old,5-to 7-year-old and 8-to12-year-old groups.Meanwhile,compare the results with foreign researches.Methods Pedsol cardiac module was adopted to investigate 255 children patients with letters in a certain heart center in Shanghai.The survey included heart problems and treatment,perceived physical appearance,treatment anxiety,cognitive problems and communication.2-to 4-year-old group was reported by parents and others were reported by both children and parents.The results underwent analysis and were compared with data of other countries.Results There existed statistical difference among three groups.Compared with foreign researches,quality of life of Chinese children was lower except heart problems and treatment.Conclusions We should provide suitable health care and family centered nursing according to physical and psychological development of children to improve children's quality of life.

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 analyze the clinical characteristics and laboratory examinations of hospitalized children with influenza, and improve medical personal awareness of severe influenza.Methods:Data of inpatients with influenza from November 2018 to February 2019 at Shenzhen Children′s Hospital was collected, and the clinical characteristics and laboratory examinations were statistical analyzed.Results:Of the 702 cases, 464(66.1%) cases were mild influenza, and 238 cases(33.9%)were severe influenza; the median age was 3.8 years, and 457(65.1%) cases were 0 to 5 years old.The number of patients with basic diseases and wheezing symptoms in the severe group was more than those in the mild group, with statistically significant differences(all P<0.05). The white blood cell count, percentage of neutrophils, neutrophils to lymphocytes ratio(NLR), C-reactive protein and procalcitonin in the severe group were higher than those in the mild group, while the percentage of lymphocytes was lower than that in the mild group(all P<0.05). Logistic multivariate regression analysis showed that underlying diseases, wheezing and NLR were risk factors for severe influenza.The area under the curve of NLR for severe influenza was 0.574, whose best cutoff value was 1.43. Conclusion:Influenza virus infection among children is mainly influenza A, and mostly affected children are under 5 years old.The blood routine of children with severe influenza mostly showes increased white blood cell, mainly neutrophils increased significantly, and increased C-reactive protein and procalcitonin.Children with underlying diseases, wheezing symptoms during the course of the disease, and elevated NLR are more likely to progress to severe cases, and NLR cannot be used as a independent predictor of severe influenza.

OBJECTIVE To study the safe methods of used disposal medical supplies to provide scientific results of decision-making for the health administration. METHODS Using the methods of "standard prevention", "isolated transformation", and "unit calculation", the disposable medical supplies were safely treated in a completely-closed and entirely-programmed way without disinfecting or damaging. The efficacy of the methods was evaluated. RESULTS Form 2006 to 2007, the distribution of disposable medical supplies was 13 306.12 kg and 14 046.00kg and the retrieved quantity was 13 306.00 kg and 14 041.00kg. The improved methods of quantification solved the problem existing in distribution and retrieving of the disposable medical supplies. The safety and convenience of the whole process had been greatly improved. CONCLUSIONS Compared with destroying shapes, disinfecting and "face to face" exchange methods, the methods of using "standard prevention", "isolated transformation" and "unit calculation" are safer, more economic, and more effective.

Aged ; Humans ; Immunoglobulin M ; Liver Failure, Acute ; etiology ; Male ; Multiple Myeloma ; complications ; immunology

Heart ; physiopathology ; Humans ; Infant, Newborn ; Long QT Syndrome ; complications ; Male ; Tachycardia, Ventricular ; complications ; Torsades de Pointes ; complications