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1.
Elena Gullino Mario Abrate Ezio Zerbino Giuseppe Bricchi Pier Dino Rattazzi 《黑龙江环境通报》1993,13(5):411-416
A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo-pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case. 相似文献
2.
利用2001~2018年的Terra MODIS C6.1气溶胶产品对河南省大气气溶胶光学特性进行研究,分析气溶胶光学厚度(AOD)、气溶胶垂直柱质量浓度(AMC)和细粒子比(FMF)的时空分布特征,并针对代表性区域研究了气溶胶光学参数的时间变化特征.结果表明,河南省年均AOD和AMC及其在各个季节的空间分布均为东高西低、北高南低,与河南省特殊地势、人口分布及各地区企业数量有关,而FMF的空间分布与AOD和AMC分布相反.春季AMC值最高,而FMF值最低,表明春季主要是受到沙尘气溶胶的影响.夏季AOD和FMF值最高,而AMC值较低,主要是夏季气溶胶吸湿增长作用增强导致AOD高值出现,雨水冲刷与二次气溶胶生成量增加使夏季以细模态气溶胶为主.秋、冬季河南省AOD和AMC值相对较低,FMF值略高于春季.河南省AOD和AMC呈现逐年下降趋势;而FMF呈现上升趋势,而且2011年之后AOD、AMC和FMF的月平均峰谷差值均有所减少. 相似文献
3.
Rodrigo Ruano Olivier Picone Alexandra Benachi Anne-Gaelle Grebille Jelena Martinovic Yves Dumez Marc Dommergues 《黑龙江环境通报》2003,23(7):539-542
To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
4.
Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality. Over 320 genes have been implicated showing the genetic heterogeneity of the condition. AMC can be of extrinsic aetiology resulting from intrauterine crowding secondary to congenital structural uterine abnormalities (eg, bicornuate or septate uterus), uterine tumors (eg, fibroid), or multifetal pregnancy or intrinsic/primary/fetal aetiology, due to functional abnormalities in the brain, spinal cord, peripheral nerves, neuromuscular junction, muscles, bones, restrictive dermopathies, tendons and joints. Unlike many of the intrinsic/primary/fetal causes which are difficult to treat, secondary AMC can be treated by physiotherapy with good response. Primary cases may present prenatally with fetal akinesia associated with joint contractures and occasionally brain abnormalities, decreased muscle bulk, polyhydramnios, and nonvertex presentation while the secondary cases usually present with isolated contractures. Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address future reproductive plans. 相似文献
5.
Eric Jauniaux Catherine Donner Christine Thomas Jacques Francotte Frédéric Rodesch Freddy E. Avni 《黑龙江环境通报》1988,8(8):557-563
Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishing the karyotype in fetuses with such umbilical cord anomalies and the importance of careful examination of placentas and infants born with such defects. 相似文献
6.
A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF. 相似文献
7.
William D. Boelter MD Beth Ann Burt Elaine B. Spector David R. Hinton Zdena Pavlova Atsuko Fujimoto 《黑龙江环境通报》1990,10(11):703-715
A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated. 相似文献
8.
Eco county construction in China 总被引:1,自引:0,他引:1
1 IntroductionInChina,countyisthemostelementaryunitinadministration.Ithastherelativelyindependentauthorizationinpolicymakingandadministrativemanagement.Ingeneral,acountyhasalandareaof1000—4000km2withapopulationof0-2—0-8million.Sincethe1990s,countyisr… 相似文献
9.
Discordant growth in twins contributes significantly to rates of perinatal morbidity and mortality. These rates vary according to chorionicity, timing of onset and severity. We have reviewed English language literature in Medline since 1980. It is clear that diagnosis of discordant growth has improved due to the use of serial ultrasound examination. Following the detection of differences in fetal size, diagnosis is facilitated by umbilical artery and fetal Doppler studies. Management options vary according to chorionicity, timing of onset and umbilical-fetal Doppler studies. The mode of delivery in discordant twins remains controversial. We conclude that ultrasound surveillance of twin gestations, combining serial biometry and selective Doppler studies, is effective in the recognition of siginificant intrauterine growth restriction in co-twins. Differences in etiology and management underscore the imortance of establishing chorionicity routinely as soon as twin gestation is diagnosed. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
10.
Jun Murotsuki MD Shigeki Uehara Kunihiro Okamura Akira Yajima Kazuhiro Murakami 《黑龙江环境通报》1994,14(7):637-639
A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post-mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders. 相似文献
11.
总结了闵行区在创建环保模范城区工作中的主要做法,并以具体数据比较了创模前后该区的环境效益、经济效益及社会效益。结果表明,通过创模,全区的污染物排放总量得到了很大削减,环境质量有明显提高,投资环境有进一步改善。 相似文献
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13.
A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0·82–0·85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up. 相似文献
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15.
A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented. 相似文献
16.
Landscape planning and ecology construction of wetland comprehensive protected area system in the Sanjiang Plain 总被引:2,自引:0,他引:2
IntroductionWetlandisoneoftherichestbiodiversityareasintheearth .Biodiversityshouldincludefourlevels:hereditydiversity ,speciesdiversity ,ecosystemdiversityandlandscapediversity .Speakingfromcertainangles,theprotectionofecosystemdiversityandlandscapediver… 相似文献
17.
Wetland is one of the richest biodiversity areas in the earth. The main purpose of establishing wetland protected area is to protect biodiversity, and the protection of ecosystem diversity and landscape diversity is the key to protect biodiversity. In order to protect regional ecosystem and landscape, it is a good way to establish wetland comprehensive protected area which connected wetland nature reserves by habitat corridors. The Sanjiang Plain as a study area, its landscape evaluation index system on wetland protected area was studied, and some problems on landscape planning and ecology construction were further approached in this paper. It showed that establishing wetland comprehensive protected area is very important to protect regional wetlands, to maintain ecological balance,and to improve the sustainable development of agriculture and industry in this region. 相似文献
18.
H. Brandenburg L. van der Zwan M. G. J. Jahoda Th. Stunen J. W. Wladimiroff 《黑龙江环境通报》1991,11(9):685-690
Ninety-six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA-CVS) or amnio-centesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA-CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA-CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis. 相似文献
19.
George I. Solish Hugo W. Moser Laura D. Ringer Ann E. Moser Carol Tiffany Edward Schutta 《黑龙江环境通报》1985,5(1):27-34
The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirned by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease. 相似文献
20.
Dr Hae K. Park Helen H. Kay Allyn McConkie-Rosell Joe Lanman Yuan-Tsong Chen 《黑龙江环境通报》1992,12(3):169-173
Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8–12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester. 相似文献