排序方式: 共有16条查询结果,搜索用时 15 毫秒
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Paul Uvebrant Eva Björck Nils Conradi Klas-Henry Hökegård Tommy Martinsson Jan Wahlström 《黑龙江环境通报》1993,13(7):651-657
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis. 相似文献
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A. Wieraszko Z. Ahmed J. Armani N. Maqsood S. Philips H. Raja 《The Environmentalist》2005,25(2-4):145-155
Summary The influence of pulsed magnetic fields (PMF) on the properties of nervous tissue was investigated. Hippocampal slices or
synaptosomes obtained from hippocampal tissue were used as model systems. The amplitude of potentials recorded in vitro from one of the hippocampal pathways (Schaffer collaterals that use glutamate as a neurotransmitter) was employed as a measure
of the influence of magnetic fields on synaptic efficiency. The synaptic glutamate turnover and radioactive calcium accumulation
were used as markers of the PMF influence on biochemistry of synaptic mechanisms. The exposure of hippocampal slices for 30
min to PMF amplified evoked potentials. While the frequency of 0.16 Hz exerted the strongest effect, lower (0.01, 0.07, 0.03
Hz) and higher (0.5 Hz) frequencies were much less effective. The enhancement of the neuronal excitability was correlated
with significant increase in the neuronal spontaneous activity mediated by electrical synapses. The PMF-induced changes in
the excitability of the tissue were accompanied by an increase in the synaptic turnover of glutamate. The release of radioactive
D-Aspartate (a glutamate analog used as a marker for glutamate turnover) from the slices, and its uptake by synaptosomes were
enhanced, and reduced respectively, following the stimulation with pulsed magnetic fields. The frequency which was the most
efficient in amplification of evoked potentials (0.16 Hz) was also the most effective in the modulation of the release and
uptake processes. The PMF-induced changes in neurotransmitter turnover coincided with an increase in 45Ca2+ accumulation observed in hippocampal slices exposed to PMF. 相似文献
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Infantile polycystic kidney disease (IPKD) is an autosornal recesive inherited disorder, IPKD has been previously diagnosed by us as early as the 14th week of gestation. ‘Late onset’ (third trimester) IPKD has been previously described by several authors. We present here a case of intrauterine detection of ‘late onset’ IPKD, suggesting that elongated hyperechogenic kidneys (with normal transverse and anteroposterior diameters) should be considered as an early sign of ‘late onset’ presenting IPKD. 相似文献
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Prenatal diagnosis in a pregnancy at risk for late infantile neuronal ceroid lipofuscinosis (Batten's disease) was undertaken at 17 weeks' gestation by ultrastructural examination of amniotic fluid cells. The presence of curvilinear profiles indicated an affected fetus and the diagnosis was confirmed, after the pregnancy was terminated, by the finding of many typical curvilinear profiles in multiple tissues which included skin, amnion, umbilical vessels, blood, liver, and brain. Comparison between the involved cells in the amniotic fluid and fetal tissues suggests that these cells are probably derived from the periderm, and possibly also from the amnion. The prominent presence of cytosomes in the periderm and intermediate cells of the fetal epidermis and occasionally also in the endothelial cells of the dermis suggests that fetal skin may be a useful alternative site for assessing fetal involvement. Control specimens of the amniotic fluid, fetal skin, amnion, and liver showed no similar cytosomes. However, some control amniotic fluid samples did contain cells with large collections of irregular trilaminar membranes, and these could be open to misinterpretation. It is important that only typical curvilinear profiles are considered as an indication of an affected pregnancy. 相似文献
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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
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Cultured amniotic fluid cells from four anencephalic pregnancies were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against different types of cytoskeletal intermediate filaments. Most of the cells showed a fine fibrillar cytoplasmic fluorescence with antibodies against glial fibrillary acidic protein (GFA), indicating that amniotic fluid cells in anencephalic pregnancies are of glial origin. The GFA-positive cells were rapidly adhering and proliferating. They remained as the major cell type also in long term cultures, and could easily be recovered from liquid nitrogen without losing their GFA positivity. GFA-positive cells were pleomorphic in appearance, and occurred in several morphologically different shapes. Amniotic fluid from one of the anencephalic cases contained typical neuronal cells, which in IIF were GFA-negative but could specifically be stained with anti-neurofilament antibodies. Most of the GFA-negative cells in all the cases were fibroblasts, identified by their fluorescence only with antibodies against vimentin. Epithelial cells showing positive keratin-fluorescence in IIF, were seen only occasionally. 相似文献
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Jocelyne de Laveaucoupet Fabio Roffi François Audibert Françoise Guis Catherine Lacroix Nathalie Villeneuve Pierre Landrieu Philippe Labrune 《黑龙江环境通报》2005,25(4):307-310
We report two cases in the same family of progressive neuronal degeneration of childhood—Alpers syndrome—with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
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