Prenatal diagnosis of Pallister-Killian syndrome and literature review

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.     

Prevalence of Post-Stroke Cognitive Impairment in China: A Community-Based,Cross-Sectional Study

International hospital-based studies have indicated a high risk of cognitive impairment after stroke, evidence from community-based studies in China is scarce. To determine the prevalence of post-stroke cognitive impairment (PSCI) and its subtypes in stroke survivors residing in selected rural and urban Chinese communities, we conducted a community-based, cross-sectional study in 599 patients accounting for 48% of all stroke survivors registered in the 4 communities, who had suffered confirmed strokes and had undergone cognitive assessments via the Montreal Cognitive Assessment (MoCA), Mini-Mental State Examination (MMSE), and Hachinski Ischemia Scale (HIS). Detection of PSCI was based on scores in these neuropsychological scales. Factors potentially impacting on occurrence of PSCI were explored by comparing demographic characteristics, stroke features, and cardiovascular risk factors between patients with and without PSCI. The overall prevalence of PSCI was 80.97% (95%CI: 77.82%-84.11%), while that of non-dementia PSCI (PSCI-ND) and post-stroke vascular dementia (PSD) was 48.91% (95%CI: 44.91%-52.92%) and 32.05% (95%CI: 28.32%-35.79%), respectively. Prior stroke and complications during the acute phase were independent risk factors for PSCI. The risk of recurrent stroke survivors having PSCI was 2.7 times higher than for first-episode survivors, and it was 3 times higher for those with complications during the acute phase than for those without. The higher prevalence of PSCI in this study compared with previous Chinese studies was possibly due to the combined effects of including rural stroke survivors, a longer period from stroke onset, and different assessment methods. There is an urgent need to recognize and prevent PSCI in stroke patients, especially those with recurrent stroke and complications during the acute phase.     

Purification by affinity chromatography of the dicarboxylate carrier from bovine heart mitochondria

Submitochondrial particles were prepared from bovine heart mitochondria, solubilized with Triton X-114 in the presence of lipids and submitted to hydroxylapatite chromatography. The eluate obtained, containing a mixture of mitochondrial carriers, was processed further by affinity chromatography using as ligand p-aminophenylsuccinate coupled via a diazo bond to aminohexyl-Sepharose 4B. The activity of the dicarboxylate exchanger was measured after reconstitution into asolectin vesicles at each step of the purification procedure. All samples studied were found to display substrate and inhibitor specificity similar to those described for the dicarboxylate carrier in mitochondria. The specific activity of the final material eluted from the affinity column was found to be about 1000-times higher than that of the Triton X-114 extract of submitochondrial particles. SDS-polyacrylamide gel electrophoresis analysis of the affinity chromatography eluate showed the presence of only two polypeptides.     

松辽盆地阿尔必期微体浮游植物新属种

该文描述了松辽盆地中白垩世阿尔必期泉头组三段的微体浮游植物化石1新属7新种,隶属于微咸水沟鞭藻类2属5新种(含4新亚种),淡水绿藻1属1种和疑源类1新属1新种。并对沟鞭藻 Ngktericysta Bint,1986进行了修订。     

松辽盆地白垩纪微体浮游植物群及其环境讨论

该文报道了松辽盆地白垩纪丰富的非海相微体浮游植物群,主要是沟鞭藻类及一些绿藻和疑源类;论述了藻类的生物地层特征,自下而上初步划分出10个组合带;结合微量元素和古地磁等资料,较详细地讨论了含微体浮游植物组段的沉积环境,认为松辽盆地在白垩纪至少遭受过两次重要的海侵(分别在青山口组一段及嫩江组一、二段沉积时期),导致古松辽湖泊五种不同水体环境的演替,指出微体浮游植物组合的变化是受古盐度、古温度和古水深等因素控制的。此外,对有关组段的地质时代也进行了讨论,进一步补充了新的浮游植物化石证据。     

氧化塘中细菌种群组成动态

对武汉地区氧化塘中的细菌数量、细菌种类、种群组成、优势种及群落多样性进行了初步研究。从氧化塘中分离的细菌经鉴定属于12个属,主要有假单胞菌属(Pseudomonas)、棒杆菌属(corynebacterium)、无色杆菌属(Achromobacter)和微杆菌属(Microbacterium),其它菌属是芽孢杆菌属(Bacillus)、色杆菌属(Chromobacterium)、短杆菌属(Brevibacterium)、葡萄球菌属(Staphylococcus)、微球菌属(Micrococcus)、黄杆菌属(Flavobacterium)、埃希氏菌属(Escherichia)和链球菌属(Streptococcus)。在5个小塘中,细菌数量、种群组成和群落多样性指数都有不同,这与各塘的污染程度有关。由此,多样性指数可用于监测氧化塘的净化效果。     

利用普通怯寄蝇防治菜粉蝶初探

1 前言 从外地引进寄蝇或人工助长当地寄蝇种类防治农林害虫,是有效的生防手段之一,国外已有很多成功的报道。King等(1981)在路易斯安娜州蔗田中人工大量释放螟利索寄蝇(Lixophaga diatraeae)成虫防治第1代小蔗杆草螟(Diatraea saccharalis),不同地区的寄生率分别达到4.1、8.7和35.7％;由于降低了农药的使用量,奇痣窄径茧蜂(Agathis stigmatera)的自然寄生率也相应提高,很好地控制了蔗田害虫的发生。在寄蝇的田间释放技术方面,国外还没有详细的报道。在我国,利用寄蝇防治害虫的工作也是刚刚起步,很多具体问题有待于进一步研究。     

Interaction of calf skin collagen with glycerol: linked function analysis

Glycerol stabilizes the triple-helical structure of solubilized calf skin collagen. The equilibrium melting temperature of the protein increased linearly from 38.0 degrees C in AS buffer (0.01 M NaOAc and 0.02 M NaCl, pH 4.0) to 43.0 degrees C in AS and 6 M glycerol buffer. To understand the thermodynamic basis of this effect on the equilibrium melting temperature and the glycerol inhibition of collagen self-association, the preferential interactions of native and denatured calf skin collagens in AS buffer containing 1.5, 3, and 4.5 M glycerol were measured with a precision densimeter. The results indicated that native collagen binds glycerol preferentially whereas denatured collagen neither binds nor repels glycerol. The preferential binding of glycerol by native collagen, when interpreted in terms of the three-component solution thermodynamics, suggests that the surface interaction of native collagen with glycerol is energetically more favorable than its interaction with water. By use of the Wyman linked function, the negative chemical potential change of collagen derived from its preferential binding of glycerol can account for both the glycerol stabilization of the triple-helical structure of collagen and the inhibition of in vitro self-association of monomers into fibrils.