Comparison of three different α-thalassemia prenatal screening strategies used in Guangdong, China / 中华围产医学杂志

Objective To compare the effect and cost of three different α-thalassemia prenatal screening strategies used in Guangdong, China, and to provide evidence for α-thalassemia prevention. Methods In total, 13 284 hospital-delivery couples and 13 369 newborns/fetuses (offspring) from 21 counties or districts of Guangdong Province were included in this study, who were treated from June to December 2012. Mean cell volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A2 (Hb A2) were detected in the couples, and 6 types ofα-globin gene mutations were found in all couples and newborns. The strategies were MCV/MCH and serum Hb A2 (protocolⅠ) or parallel screening based on pregnant women (protocolⅡ), and serum screening based on couples (protocolⅢ). The validity and reliability of the three strategies were then compared using the Chi-square test. Results The sensitivity and the specificity of pregnant women who wereα-thalassemia carriers in protocolⅠwere 74.82%(1 352/1 807) and 74.11%(8 506/11 477), and were 89.82%(1 623/1 807) and 48.60%(5 578/11 477) in protocol Ⅱ , respectively. And 1.67% (221/13 284) couples were bothα-thalassemia carriers by the gene test. The rate of missed diagnosis in bothα-thalassemia carrier couples in protocolsⅠ,ⅡandⅢwas 50.68%(112/221), 11.76%(26/221) and 11.31%(25/221), respectively. In couples who needed prenatal diagnosis, the rates of missed diagnosis, sensitivity, specificity, positive predictive value, and negative predictive value were 17.46%(11/63), 82.54%(52/63),98.35%(13 003/13 221), 19.26%(52/270) and 99.92%(13 003/13 014) in protocolⅠ;4.76%(3/63), 95.24%(60/63), 88.18%(11 658/13 221), 3.70%(60/1 623) and 99.97%(11 658/11 661) in protocolⅡ;and 3.17%(2/63), 96.83%(61/63), 59.31%(7 842/13 221), 1.12%(61/5 440) and 99.97%(7 842/7 844) in protocol Ⅲ , respectively. The diagnosis of severeα-thalassemia was not missed in all three screening strategies. The mean cost of protocols Ⅰ, Ⅱ and Ⅲ for detecting a couple who needed prenatal diagnosis was 37 049.23, 50 836.00 and 40 321.64 RMB, respectively. Conclusions The three screening protocols have good efficiency in screening forα-thalassemia. However, protocolsⅡandⅢare preferred when financial conditions permit.

Comparison of the effect of three β-thalassemia prenatal screening strategies using in Guangdong province / 中华妇产科杂志

Objective To compare the effect of three β-thalassemia prenatal screening strategies in Guangdong province. Methods A total of 13 284 hospital-delivered couples and 13 369 newborns were recruited from 91 hospitals in 21 counties or districts of Guangdong province from June to December 2012. Mean cell volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A2 (Hb A2) were tested for all the couples, and all the couples and newborns were detected by 17 types ofβ-globin gene mutations. The effect of three β-thalassemia prenatal screening strategies were compared as following:(1) MCV/MCH with Hb A2 serial screening(SS):Hb A2 was tested if the woman′s MCV3.5, it meant positive. And if the woman wasβ-thalassemia carrier and her husband′s Hb A2>3.5, it meant couple positive. (2) MCV/MCH with Hb A2 parallel screening(PS):if the woman′s MCV3.5 pg, it meant couple positive. And the husband would be tested forβ-globin gene mutations if the woman was β-thalassemia carrier. (3) MCV/MCH with Hb A2 serial screening for couples(SSC):if one of the couple or both of them had MCV3.5, it meant couple positive. Results (1) For the SS strategy, the sensitivity was 92.69%(583/629);the specificity was 99.87%(12 638/12 655); the positive predictive value was 97.17%(583/600);and the negative predictive value was 99.64%(12 638/12 684). The results ofβ-globin gene mutations tested showed that the rate ofβ-thalassemia carriers was 4.74%(629/13 284) in the 13 284 pregnant women, and it was 4.29%(570/13 284) in their husbands. (2) The SS strategy detected 27 (0.20%,27/13 284) β-thalassemia carrier couples. For the SS strategy detecting β-thalassemia carrier couples, the missed diagnosis rate was 11.11%(3/27);the sensitivity was 88.89%(24/27);the specificity was 100.00%(27/27); the positive predictive value was 100.00%(24/24); and the negative predictive value was 99.98%(13 257/13 260). (3) When using the SS strategy for 13 369 offsprings, there were 582β-thalassemia carriers (4.35%,582/13 369), including 578 (99.31%,578/582) minorβ-thalassemia, 3 (0.52%,3/582) intermediaβ-thalassemia and 1 (0.17%,1/582) major β-thalassemia. The SS strategy detected 25 fetuses who neededβ-thalassemia prenatal diagnosis. (4) For the PS strategy, the sensitivity was 98.09%(617/629); the specificity was 88.73%(11 229/12 655); the positive predictive value was 30.20%(617/2 043); and the negative predictive value was 99.89%(11 229/11 241). (5) When using the PS strategy for theβ-thalassemia carrier couples, the sensitivity was 100.00%(27/27);the specificity was 95.55%(12 667/13 257);the positive predictive value was 4.38%(27/617);and the negative predictive value was 100.0%(12 667/12 667). (6) The PS strategy detected 28 fetuses who needed β-thalassemia prenatal diagnosis in 13 369 offsprings. (7) For the SSC strategy, the sensitivity was 93.80%(590/629); the specificity was 95.75%(12 117/12 655); the positive predictive value was 52.30%(590/1 128); and the negative predictive value was 99.68%(12 117/12 156). When the SSC strategy was used for the husbands, the sensitivity was 92.28%(526/570); the specificity was 95.27%(12 112/12 714);the positive predictive value was 46.63%(526/1 128); and the negative predictive value was 99.64%(12 112/12 156). (8) When the SSC strategy was used inβ-thalassemia carrier couples, the sensitivity was 100.00%(27/27);the specificity was 91.69%(12 156/13 257);the positive predictive value was 2.39%(27/1 128);and the negative predictive value was 100.00%(12 156/12 156). (9) The SSC strategy detected 28 fetuses who neededβ-thalassemia prenatal diagnosis. Conclusions All the three β-thalassemia prenatal screening strategies had good effect in clinical practice and public health. While in the high-prone area of β-thalassemia, MCV/MCH with Hb A2 parallel screening and MCV/MCH with Hb A2 serial screening for couples stratigies were better.

Gene diagnosis for a child with tuberous sclerosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the pathogenic mutation in a family affected with tuberous sclerosis.</p><p><b>METHODS</b>For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.</p><p><b>RESULTS</b>A heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.</p><p><b>CONCLUSION</b>The missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.</p>

An Investigation and Analysis on Satisfaction of Pediatric Services in Guangdong Province / 中华医院管理杂志

Object Through performing the service satisfaction survey,to learn their interest claim and discover the service defects ,so as to provide advice and countermeasures.Method Using field survey methods and statistics analysis to study.Result The satisfaction of relatives of pediatric patients at the level of "relatively good" and "good" is about 60% both in medical treatment environment and equipment ,over 70% in medical treatment effect,doctor capacity,nursing capacity and overall assessment,but only 5.1% in medical expenses.Conclusion Relatives of pediatric patients have high satisfaction in treatment capability of medical staff,medical treatment effect as well as overall assessment ,normal satisfaction in medical environment and equipment,but lowest satisfaction in medical expenses,and the satisfaction in tertiary hospital is not high.Relatives in some districts demand much in some aspects,such as improving hospital environment,attaching importance to ward hygiene ,improving service attitude,and providing single ward ect.

Clinical distribution analysis of pathogenic bacterium in women and children' s hospital and health institute / 中国基层医药

Objective To investigate the clinical distribution and change of pathogenic bacterium in women and children' s hospital and health institute. Methods Pathogens isolation, and identification were conducted for samples, which were gathered from patients in our hospital between Nov. 2001 and Oct. 2007. Results The total posi-tive rate was 12.7%. Conclusion Clinical distribution of pathogenic bacterium in women and children' s hospital and health institute was different from other hospitals. It is important for reasonable antibacterials application, also for nosocomial infection prevention and reduction.

On the role and effect of incentive mechanism in encouraging proactive reporting on adverse events in hospital / 中华医院管理杂志

Objective Discussion of the role/effect of an incentive mechanism in encouraging proactive reporting of adverse events in hospital.Methods Applying an incentive mechanism to encourage medical staff to report on adverse events found in their hospitals.Incentives in question include financial rewards.alleviation or cancellation of some penalties for medical defects.These measures were followed by a comparison between the number and types of proactive reporting on adverse events with those prior to such measures.in addition to typical case studies.Results Comparison of the figures during Jan.August,2007 and those during the sanqe period in 2008 after the incentive mechanism was in place found significant changes.For example,cases of proactive reporting rose from 34 to 176.Most significant changes were found in even types including medical malpractice.For medical disposal events,the number of events rose from 5 in 2007 to 10 in 2008;events in medical technical inspections from 0 to 24 cases;and that of patients identification from 2 to 14.These figures were followed by typical case analysis and improvements.Conclusion Such all incentive mechanism has significantly increased the number of proactive reporting on adverse events in hospitals,changing the types of such reporting to stand out malpractice related events,and enhancing the reporting to improve quality of care in hospitals.

Efficiency of Establishing Regional Cure Branch Centers for Critical Neonates / 国际儿科学杂志

Objective To explore the efficiency of establishing regional critical neonate cure branch centers in decreasing the mortality of neonates and improving the neonatal emergency technology in the hospitals in primary level.Methods According to the admittance standards,critical neonate cure branch centers were founded in the qualified level II maternal and child health hospitals,meanwhile,a series of measures of quality supervision were adopted.We compared the situation of one year before the foundation of centers with that of after the foundation about the quality index of medical care,scientific research and teaching as well as economic indicator.Results During one year after the establishment of regional critical neonate cure branch centers,the annual amount of the inpatients and critical patients as well as the rescue achievement ratio increased,the annual mortality rate reduced,the rate of passing the new teaching test of asphyxia rescue increased and was above 90% in all centers except one,the incidence of neonatal asphyxia decreased in majority of the centers,both financial income and the capability of scientific research and teaching enhanced.Conclusion The establishment of regional critical neonate cure branch centers is beneficial to improve the provincial central hospital as well as the hospitals in primary level.It utilizes medical resource efficiently,promotes the maternal and child health hospitals in primary level to develop diagnosis and treatment as well as scientific research.The establishment is beneficial to raise the survival rate of the pathological neonate,degrade disability rate of the pathological neonate.The medical cost was expended appropriately,so it is worth to be spread generally according to Chinese situation.