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381.
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
382.
383.
L. Bovicelli M.D. F. M. Picchio G. Pilu G. Baccarani L. F. Orsini N. Rizzo G. Alampi P. M. Benenati J. C. Hobbins 《黑龙江环境通报》1984,4(1):67-72
In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis. 相似文献
384.
Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization. 相似文献
385.
Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally. 相似文献
386.
387.
388.
A case of spontaneous abortion after transcervical CVS is presented. Despite no evidence of bacteria in the vagina and cervix prior to sampling and the prophylactic use of Metronidazole, pathological evidence of chorioamnionitis was found. The implications of this are discussed. 相似文献
389.
M. Schwartz M. Super J. Schmidtke C. Buys M. Farrall D. Halley M. Krawczak J. E. Poncin D. Loukopoulos M. Devoto 《黑龙江环境通报》1988,8(8):619-624
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service. 相似文献
390.
High-performance permanent magnets 总被引:2,自引:0,他引:2
High-performance permanent magnets (pms) are based on compounds with outstanding intrinsic magnetic properties as well as
on optimized microstructures and alloy compositions. The most powerful pm materials at present are RE–TM intermetallic alloys
which derive their exceptional magnetic properties from the favourable combination of rare earth metals (RE=Nd, Pr, Sm) with
transition metals (TM=Fe, Co), in particular magnets based on (Nd,Pr)2Fe14B and Sm2(Co,Cu,Fe,Zr)17. Their development during the last 20 years has involved a dramatic improvement in their performance by a factor of >15 compared
with conventional ferrite pms therefore contributing positively to the ever-increasing demand for pms in many (including new)
application fields, to the extent that RE–TM pms now account for nearly half of the worldwide market. This review article
first gives a brief introduction to the basics of ferromagnetism to confer an insight into the variety of (permanent) magnets,
their manufacture and application fields. We then examine the rather complex relationship between the microstructure and the
magnetic properties for the two highest-performance and most promising pm materials mentioned. By using numerical micromagnetic
simulations on the basis of the Finite Element technique the correlation can be quantitatively predicted, thus providing a
powerful tool for the further development of optimized high-performance pms. 相似文献