Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei

BackgroundEarly detection of critical congenital heart disease (CCHD) can significantly reduce morbidity and mortality among newborns. We investigate the feasibility of implementing a community-based newborn CCHD screening program in Taipei.MethodsTwelve birthing facilities in Taipei participated in a trial screening program between October 1, 2013, and March 31, 2014. Newborns underwent pulse oximetry at 24–36 h old, with probes attached to the right hand and one lower limb. Any screening saturation ≥95% in either extremity, with an absolute difference of ≤3% between the right hand and foot, was accepted as a screening pass. A screening result was considered as a fail if the oxygen saturation was <95% at either probe site, on 3 separate occasions, each separated by 30 min or the first result was <95% at either probe site, and any subsequent oxygen saturation measurement was <90%. Public health nurses would follow up all missed or refused cases.ResultsOf the 6,387 live births, 6,296 newborns (coverage rate: 6,296/6,387 = 98.6%) underwent appropriate pulse oximetry screening. Sixteen newborns (0.25%) were reported to have a failed screening result. Five of these screen positive newborns were confirmed with CCHD; two of them were diagnosed solely attributed to the failed screening results. The false-positive rate was 0.18%. Implementing a 6-month screening program for CCHD produced good case detection rate, while using efficient screening and referral systems.ConclusionThis program was successful in integrating screening, referral and public health tracking systems. The protocol outlined in this report could provide a community-based model for worldwide implementation.     

AlphaLISA检测金黄色葡萄球菌肠毒素E方法的建立

目的:利用AlphaLISA技术,建立新型均相检测方法,对金黄色葡萄球菌肠毒素E(SEE)进行检测。方法:采用2种SEE抗体建立AlphaLISA检测方法,羊抗肠毒多克隆抗体同受体微球偶联,SEE小鼠单克隆抗体标记生物素,并同偶联了亲和素的供体微球连接,3种组分与待测抗原形成双抗体夹心结构,680nm的光激发供体微球产生能量,将周围反应体系中的氧分子转变为激发态,并将能量传递给受体微球,产生520~620nm的荧光,荧光信号与抗原浓度正相关。对该方法的反应体系进行优化,验证其重复性、敏感性和特异性,并采用该方法检测菌液上清和食品模拟样本。结果:所建立的AlphaLISA检测方法重复性较好,批间变异系数和批内变异系数皆小于10%;检测SEE的灵敏度可以达到100pg/mL,并与其他几种毒素均无交叉反应,具有较好的特异性。该方法也能够准确地对金黄色葡萄球菌菌液上清中的SEE进行检测,对食品模拟样本的检测也有较好的灵敏度。结论:建立了检测SEE的AlphaLISA方法。该方法均相免洗,操作便捷,用时短,灵敏度更高,可对菌液上清和不同食品模拟样本中的SEE进行检测。     

Regulation of tristetraprolin during differentiation of 3T3-L1 preadipocytes

Tristetraprolin is a zinc-finger-containing RNA-binding protein. Tristetraprolin binds to AU-rich elements of target mRNAs such as proto-oncogenes, cytokines and growth factors, and then induces mRNA rapid degradation. It was observed as an immediate-early gene that was induced in response to several kinds of stimulus, such as insulin and other growth factors and stimulators of innate immunity such as lipopolysaccharides. We observed that tristetraprolin was briefly expressed during a 1-8 h period after induction of differentiation in 3T3-L1 preadipocytes. Detailed analysis showed that tristetraprolin mRNA expression was stimulated by fetal bovine serum and differentiation inducers, and was followed by rapid degradation. The 3'UTR of tristetraprolin mRNAs contain adenine- and uridine-rich elements. Biochemical analyses using RNA pull-down, RNA immunoprecipitation and gel shift experiments demonstrated that adenine- and uridine-rich element-binding proteins, HuR and tristetraprolin itself, were associated with tristetraprolin adenine- and uridine-rich elements. Functional characterization confirmed that tristetraprolin negatively regulated its own expression. Thus, our results indicated that the tight autoregulation of tristetraprolin expression correlated with its critical functional role in 3T3-L1 differentiation.     

Mitochondrial anchoring of PKCα by PICK1 confers resistance to etoposide-induced apoptosis

Various pathways, including regulation of functions of the Bcl-2 family, are implicated in the survival promotion by PKCα, however the molecular mechanisms are still obscure. We have previously demonstrated that PKCα is selectively anchored to mitochondria by PICK1 in fibroblasts NIH 3T3. In this study, we show that over-expression of PICK1 in leukemia REH confers resistance to etoposide-induced apoptosis, which requires an interaction with PKCα as the non-interacting mutant PICK1 loses the pro-survival activity. The PKCα selective inhibitor Gö6976 also abolishes the anti-apoptotic effect indicating a requirement for PKC activity. Disruption of PICK1/PKCα interactions by inhibitory peptides significantly increases cellular susceptibility to etoposide. Similar effects are also observed in HL60 cells, which exhibit an intrinsic resistance to etoposide. Molecular analysis shows that the wild type PICK1, but not the non-interacting mutant, prevents the loss of mitochondrial membrane potential with a coincident increase in phosphorylation of the anti-apoptotic Bcl-2(Ser70) and a decrease in dimerization of the pro-apoptotic Bax. PICK1 may provide the spatial proximity for phosphorylation of Bcl-2(Ser70) by PKCα which then leads to a higher survival. Taken together, our results suggest that PICK1 may mediate the pro-survival activity of PKCα by serving as a molecular link between PKCα and mitochondria.     

Lack of ceruloplasmin expression alters aspects of copper transport to the fetus and newborn, as determined in mice

Copper transport and accumulation were studied in virgin and lactating C57BL/6 mice, with and without expression of ceruloplasmin (Cp), to assess the importance of Cp to these processes. One hour after i.p. injection of tracer ⁶⁴Cu, liver and kidney accounted for 80% of the radioactivity, and mammary gland 1%, while in lactating Cp+/+ mice 2–4 days post partum, uptake by mammary gland was 9-fold higher and that of liver and other organs was decreased, with ⁶⁴Cu rapidly appearing in milk. Parallel studies in Cp−/− mice (siblings from same colony) gave virtually identical results. However, their milk contained less ⁶⁴Cu, and actual copper contents determined by furnace atomic absorption were less than half those for milk from normal dams. Liver copper concentrations of pups born to Cp−/− dams also were half those of pups from wild type dams. Copper in pup brains was unaffected; but iron concentrations were reduced. We conclude that absence of Cp, while not affecting entry of exchangeable copper from the blood into the mammary gland, does have a significant effect on the availability of this metal to the newborn through the milk and in the form of stores accumulating in gestation.     

常见支原体感染误诊与对策

临床支原体感染易发生误诊,不但加重患者精神和经济负担,而且延误患者病情,甚至留下后遗症。为此,我们综述了常见支原体感染误诊的特点和原因,深挖其中思维和思想根源,探讨减少或避免该类误诊现象的策略,旨在为临床医护人员和检验技术人员提供参考建议。     

血清胱抑素C对帕金森病的临床诊断价值

目的:探讨血清胱抑素C(CysC)对帕金森病(PD)的临床诊断意义,为帕金森病的早期诊断和预防治疗提供可参考的血清学指标。方法:采用日立7170全自动生化分析仪检测53例帕金森病患者的血清CysC,以33例健康人作为对照,采用SPSS13.0软件对数据进行统计分析。结果:PD组CysC平均水平为(1.18±0.37)mg/mL,健康对照组为(0.79±0.15)mg/mL,组间均数有显著性差异(t=6.663,P=0.000<0.05)。诊断PD的ROC曲线下的面积为0.860,面积下95%可信区间为(0.782±0.938)。在ROC曲线上确定诊断界点,当界点为0.938时,灵敏度为0.755,特异度为0.888;当界点为1.030时,灵敏度为0.528,特异度为0.970。当CysC水平>0.938 mg/mL时,PD组阳性率为75.47%;当CysC水平>1.03 mg/mL时,PD组阳性率为52.83%。结论:血清CysC对PD的诊断有一定的意义,CysC水平越高,确诊为PD的可能性越大;CysC水平>0.938 mg/mL时,能很好地区别于健康对照组。     

猪链球菌2型强毒株S.suis 05ZY和弱毒株S.suis 1940的比较转录谱分析

目的:比较猪链球菌2型强毒株S.suis 05ZY和弱毒株S.suis 1940毒力相关基因转录水平的差异,为进一步研究强毒株S.suis 05ZY毒力增强的原因提供实验基础。方法:分别提取S.suis 05ZY和S.suis 1940的RNA,反转录成cDNA并纯化,用Cy5或Cy3标记,与猪链球菌全基因组DNA芯片进行杂交,扫描芯片进行数据分析,比较二者在转录水平上的差异基因。结果:编码溶血素、精氨酸氨基肽酶的基因分别上调4.4和6.0倍,参与荚膜多糖合成的相关基因cps2H、cps2I、cps2J和一些可能的毒力相关基因ofs、dpr、SSU05₀196、SSU05₀272、SSU05₁408-1409均发生转录水平的上调。结论:溶血素、荚膜多糖、精氨酸氨基肽酶及一些可能的毒力因子在转录水平的上调很可能与S.suis 05ZY的毒力增强有关。     

Biomechanical analysis of foot with different foot arch heights: a finite element analysis

Clinically, different foot arch heights are associated with different tissue injuries to the foot. To investigate the possible factors contributing to the difference in foot arch heights, previous studies have mostly measured foot pressure in either low-arched or high-arched feet. However, little information exists on stress variation inside the foot with different arch heights. Therefore, this study aimed to implement the finite element (FE) method to analyse the influence of different foot arches. This study established a 3D foot FE model using software ANSYS 11.0. After validating the FE model, this study created low-arched, high-arched and normal-arched foot FE models. The FE analysis found that both the stress and strain on the plantar fascia and metatarsal were higher in the high-arched foot, whereas the stress and strain on the calcaneous, navicular and cuboid were higher in low-arched foot. Additionally, forefoot pressure was increased with an increase in arch height.     

QTL Analysis of Popping Fold and the Consistency of QTLs Under Two Environments in Popcorn

Popping fold (PF) is the most important quality trait in popcorn. In this study, a total of 259 F_2:3 families, derived from the cross between a dent corn inbred Dan232 and a popcorn inbred N04, were evaluated for their popping folds in replicated experiments under two environments. Of 613 simple sequence repeat (SSR) primer pairs screened, 183 pairs were selected to construct a genetic linkage map with the genetic distance of 1 762.2 cM (centimorgan) and on average 9.63 cM every marker. Quantative trait loci (QTL) were identified, and their genetic effects were estimated using CIM (composite interval mapping) method. The interactions among QTLs detected were calculated using MIM (multiple interval mapping) method. In all, 22 QTLs were detected, and only 5 of them were common under two environments. Contribution to phenotypic variation of a single QTL varied from 3.07% to 12.84%, and total contributions of all QTLs under two environments were 66.46% and 51.90%, respectively. Three QTLs (qPF-6-1, qPF-8-1 and qPF-1-3) with more than 10% contributions were observed. The additive effects were larger than dominant effects for most QTLs. The amount of QTLs showing additive, partially dominant, dominant and over-dominant effects were 4, 5, 0, 2 in spring sowing and 2, 5, 2, 2 in summer sowing, respectively. There were only 2.60% pairs of QTLs or maker intervals expressing AA, DA or DD interactions.