Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.     

全国大气扩散输送模态与区划研究

基于NCEP再分析气象资料,使用HYSPLIT模式对我国大陆区域进行了一整年的连续轨迹计算.轨迹以1°×1°的网格化经纬度分辨率进行计算.考虑气候、地理及经济因素,将全国计算区域分为10个大区,分别统计各大区出发的轨迹在全国的分布频率.根据全年和各季的轨迹统计结果,分析我国不同区域的大气输送扩散特征以及区域间大气环境的相互影响潜势.结果表明,全国10个大区的大气扩散输送模态可分为特性不同的7大类,其中以西北方向的3个大区为一类,西南高原的2个大区为另一类,其它各区自成一类.10个大区大气扩散物质的累积效应差异显著且季节变化特征各异.全国以西南区(XN)东部大气累积效应最强,东北区(DB)累积效应最弱.     

耐汞好氧反硝化菌的鉴定及适应汞离子的特性研究

从实验室保存的高效好氧反硝化菌种中筛选得到一株抗汞细菌并命名为X1,经生理生化特性和16SrRNA基因序列分析,初步鉴定该菌为恶臭假单胞菌(Pseudomonasputida).对菌株X1进行Hg2适应特性研究,结果表明,对于Hg2浓度为2、67++4、、mg·L-1的实验组,菌体分别需要被延滞12、284018、、h后进入对数期,而8mg·L-1实验组则不能进入对数期;在好氧反硝化过程中,Hg2浓度在7mg·L+-1范围内各实验组的好氧反硝化过程中NO3-N浓度变化速率、NO2-N累积峰值、pH特征点出现时刻随着Hg2浓度的增大而增大(延迟),而Hg2浓度呈现出同硝氮一致的下降趋势,并且在对数期内除汞率能达到100%.研究表明,菌株X1对Hg2最大适宜耐受浓度为7mg·L+-1,相应适应时间约为40h.在最大耐受浓度范围内,菌株X1的生长和好氧反硝化过程呈现出"被抑制-适应-受刺激"的变化规律,其中,被抑制的时间和受刺激的程度都随着Hg2浓度的增大而增大,主要表现为延滞期的延长和对数期的缩短.此外,在对数期,菌株X1的生长速率、达到稳定期的浓度和好+氧反硝化速率也都随着Hg2浓度的增大而增大,且大于无Hg2菌组.++     

小型池塘水-气界面CH4冒泡通量的观测

为了量化亚热带浅水养殖塘CH_4冒泡通量占CH_4总通量的比例,选取安徽省全椒县两个小型池塘为研究对象,采用倒置漏斗法和顶空平衡法,自2016年7月28日至8月13日观测夏季水-气界面的CH_4通量.结果表明,两个池塘CH_4冒泡通量分别是121.78 mg·(m~2·d)~(-1)和161.08 mg·(m~2·d)~(-1),CH_4扩散通量分别是3.38 mg·(m~2·d)~(-1)和3.79 mg·(m~2·d)~(-1),CH_4冒泡通量占总通量比例分别是97.5%和96.4%.CH_4冒泡通量具有高度空间异质性,A塘CH_4冒泡通量的变化范围为0.11~446.90 mg·(m~2·d)~(-1),B塘CH_4冒泡通量变化范围为0.05~607.51 mg·(m~2·d)~(-1).两个池塘的气体冒泡速率都是白天高于夜间,主要受风速控制.对于较浅的池塘,在小时尺度上,CH_4冒泡通量的主要影响因素是风速;在日尺度上,CH_4冒泡通量的主要影响因素是风速和水深,其中CH_4冒泡通量与风速呈正相关关系,与水深呈负相关关系.不同纬度的水体CH_4冒泡通量不同,中纬度地区的淡水环境比高纬度地区CH_4冒泡通量更高.通过观测手段量化小型浅水池塘CH_4冒泡通量,可以为准确估算内陆水体对区域和全球碳循环的贡献提供数据支持和理论参考.     

2015~2018年中国代表性城市PM2.5浓度的城乡差异

选取中国6大城市群中的11座代表性城市为研究区域,将监测站点划分为城区、郊区和乡村站,进而分析各城市间PM_2.5浓度的城乡差异规律.结果表明,同一城市群各城市之间,或同一城市的城区、郊区、乡村站间PM_2.5日变化皆较为相似.京津冀和长三角地区的城市城区PM_2.5浓度最高,高于郊区7.8%~9.7%,高于乡村11.3%~16.9%,而粤港澳大湾区和内陆城市群（成渝、长江中游、关中平原城市群）的城市郊区PM_2.5浓度最高,高于城区2.6%~11.2%,高于乡村16.7%~26.5%.各城市间城乡PM_2.5浓度差值的日变化规律不尽相同,可呈单峰（如上海）或双峰（如杭州）变化,极值可出现在白天（如广州）,亦可在夜间（如深圳）.PM_2.5的排放与传输扩散共同对11城市城乡PM_2.5浓度分布产生影响.     

Application of interface material and effects of oxygen gradient on the performance of single-chamber sediment microbial fuel cells (SSMFCs)

Single-chamber sediment microbial fuel cells(SSMFCs) have received considerable attention nowadays because of their unique dual-functionality of power generation and enhancement of wastewater treatment performance. Thus, scaling up or upgrading SSMFCs for enhanced and efficient performance is a highly crucial task. Therefore, in order to achieve this goal, an innovative physical technique of using interface layers with four different pore sizes embedded in the middle of SSMFCs was utilized in this study.Experimental results showed that the performance of SSMFCs employing an interface layer was improved regardless of the pore size of the interface material, compared to those without such layers. The use of an interface layer resulted in a positive and significant effect on the performance of SSMFCs because of the effective prevention of oxygen diffusion from the cathode to the anode. Nevertheless, when a smaller pore size interface was utilized, better power performance and COD degradation were observed. A maximum power density of 0.032 mW/m~2 and COD degradation of 47.3% were obtained in the case of an interface pore size of 0.28 μm. The findings in this study are of significance to promote the future practical application of SSMFCs in wastewater treatment plants.