Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation

Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel–Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele. Copyright © 2007 John Wiley & Sons, Ltd.     

黔城推覆体群的形态、结构和运动学特征

在华南中、新生代红盆中存在一系列由元古宇 -古生界地层组成的地质体 ,突起于红盆之中。许多学者对其成因进行了研究 ,得出了不同的结论。笔者对沅麻盆地南段主体由板溪群、震旦系组成的黔城推覆体群进行了研究 ,认为其成因与印支期以来川、黔、湘地区存在的、由南东向北西推覆的区域性构造事件有关 ,其形态、结构与国内外许多典型的推覆结构有相似之处。该推覆体由数条撕裂断层分为几个叠瓦体 ,各有不同的形态、结构特征。本文用被动顶板双重构造模式来解释该推覆体群的运动学模式 ,并据该区的地质特征对经典的被动顶板双重构造模式进行了补充。     

Duplex systems

Duplex kidneys occur in 0.8% of the general population, many of whom are asymptomatic. Children with duplex kidneys may be prone to urinary tract infections because of vesico-ureteric reflux or obstruction. Surgical management is usually required once symptoms occur. Increasing numbers of duplex kidneys are now prenatally diagnosed by ultrasound, resulting in the development of early postnatal strategies to try and reduce morbidity. Copyright © 2001 John Wiley & Sons, Ltd.     

复式潜流湿地净化生活污水的试验研究

研究了新型复式潜流人工湿地对生活污水的净化效果。在不同水力负荷、季节、曝气方式等条件下经过小试试验,分析了该湿地对污染物净化效果的影响。结果表明,该系统出水水质稳定,达到《城镇污水处理厂污染物排放标准》（GB18918--2002）的一级A标准。在水力负荷184mm·d。条件下COD、NH,一N去除率最大分别可达87．2％、68．9％。冬季低温条件下对各类污染物去除率仍大于20％。正交试验分析得知,最佳运行条件是气温28．6℃、水力负荷0．184m3·m-2·d-1、水力停留时间2．4d。对比试验表明,采用预曝气方式对湿地净化效果明显优于厌氧处理。     

Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system,pyelectasis and orofacial clefts

In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations. Copyright © 2001 John Wiley & Sons, Ltd.     

Dysplastic and polycystic kidneys: diagnosis,associations and management

Cystic and bright kidneys can pose a significant diagnostic dilemma when discovered as an incidental finding at the time of a routine fetal ultrasound scan. There are diverse aetiologies with equally variable implications for the prognosis in the affected fetus, and for future pregnancies. Accurate antenatal diagnosis in the absence of any positive family history is often not possible and a team approach to management (to include the fetal medicine specialist, paediatric nephrologist or urologist, geneticists and in some cases, pathologist) is essential. In this review we will attempt to describe the embryology and aetiology of these conditions and suggest an approach to management. Copyright © 2001 John Wiley & Sons, Ltd.     

The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls

Out of 13 252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.     

海水管系材料与HDR双相不锈钢的电偶腐蚀研究

研究了4种常用海水管系材料和HDR双相不锈钢在静止天然海水中的自腐蚀情况,进行了极化曲线测试,并将4种常用海水管系材料分别和HDR双相不锈钢进行了电偶腐蚀试验。结果表明,HDR双相不锈钢具有很好的耐海水腐蚀性能;在常用海水管系材料和HDR双相不锈钢的电偶腐蚀试验中,HDR双相不锈钢作为阴极受到保护,与其偶合的材料腐蚀速度明显加快。     

Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with congenital malformations and tumour predisposition. BWS results from variable mutations or epigenetic modifications of imprinted genes in the 11p15 chromosomal region. We present a fetus with mild general overgrowth and bilateral enlarged echogenic kidneys with loss of the corticomedullary differentiation in which prenatal diagnosis of BWS was suspected. The rest of the fetal anatomy and the amniotic fluid volume appeared normal. After termination of the pregnancy, molecular analysis confirmed the diagnosis of BWS by showing an isolated hypermethylation of the H19 gene. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal morphology in meckel's syndrome (with special reference to polycystic kidneys and double encephalocele)

Prenatal morphology of Meckel's syndrome was studied in five fetuses of different gestational age, that had been aborted because ultrasonography and elevated amniotic AFP-levels indicated neural tube defect. Histologically, the enlarged polycystic kidneys were completely alike with respect to the type of involvement and differed only in the severity of changes. They could be identified as type III cystic kidneys according to the classification of Potter. Proliferation of hepatic bile ducts and slight cystic dilatation of pancreatic ducts is already evident in the youngest fetus. Additional cyst formation in the epididymis was found in one of the cases. Occipital encephalocele, located within an apical occipital bone defect was always associated with a second mostly occult encephalocele protruding through a separate defect of the basal occipital squame and of the first and second vertebral arch. It is assumed that double encephalocele represents a constant finding in Meckel's syndrome, indicating a specific pattern within the disturbance of neural tube closure.