Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.     

Prenatal sonographic assessment of early,rapidly growing fetal cervical teratoma

Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid-trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.     

近期和长远时段内北极生态系统结构受到的影响

生物在物种水平上对全球气候变暖和紫外线B(UV-B)辐射增强的反应受到其群落内其他物种以及生态系统内养分循环的调节,所有的这些反应将会导致生态系统结构的变化.根据高纬度地区坏境因子的可能变化而做的控制试验表明,由夏季变暖而引起苔原植被的变化要小于增加施肥而引起的变化,试验涉及的某些环境因子对北极生态系统的结构有非常强烈地影响,但是这些影响因地区而异,观测结果表明,处于最寒冷地区的植物群落和无脊椎动物群落对全球气候变暖和紫外线B辐射的增强反应最为强烈.尽管微生物量和养分储存量相对稳定,北极无脊椎动物群落还是很可能会对全球变暖产生迅速的反应.试验结果显示,加强紫外线B辐射会改变革兰氏阴性细菌和真菌的群落组成结构,但不会对植物群落的组成产生影响.由夏季气温升高而提高的植物生产力将会控制食物网的动态变化,以苔原植被和亚极地森林植物为基础的食物网中的营养流动会明显地影响到几种优势动物种群数量的周期性波动,在某些年分这些动物的种群数量会达到峰值.小型啮齿动物和食叶昆虫如秋毛虫种群数量的周期性变化则会影响苔原和森林苔原植物的组成结构和多样性,同时也会影响到一些专性捕食者和寄生虫的变化.在暖冬,雪表形成冰壳可能会减少旅鼠的植物食物来源,然而较深的雪也可以使它们免受雪地表面上捕食者对它们的捕食.在芬诺斯堪的亚地区,已有证据表明小型啮齿类动物群落结构和种群动态的显著变化会导致专门以小型啮齿类动物为食物的捕食者的数量减少.气候还可能改变昆虫在白桦森林生态系统中的作用,因为暖冬可以增加这些昆虫卵的成活率,并且扩大其分布范围.此外,在夏季困扰驯鹿的昆虫会由于夏季气候的变暖而扩大其分布范围、增加种群数量并且种群更为活跃;同时在另一方面也会对驯鹿不利,即那些昔日驯鹿/北美驯鹿的避难场所--冰川和未融的成片的雪--在这样温暖的夏季则可能会消失.     

Fluoride distibution and the effect of some ions along Alexandria coastal Mediterranean seawater of Egypt

The coastal seawater of Mediterranean of Alexandria receives large amount of discharged waters containing industrial wastes, sewage, and agricultural and domestic drainage. Fluoride and some parameters were(chemical and physical) determined. The data gave indication that the content and the amount of the discharged water largely affect the chemical composition of the coastal water. Stepwise regression analysis was highly significant and the model was very fruitful, where the observed and calculated values were mostly concordant. This may indicated that there was a relation between fluoride content in coastal seawater and its content in the discharged water.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.