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排序方式: 共有576条查询结果,搜索用时 15 毫秒
1.
2.
Chromosome abnormalities in tuberous sclerosis 总被引:1,自引:1,他引:0
Susi Scappaticci D. Cerimele M. Tondi Rossella Vivarelli A. Fois M. Fraccaro 《Human genetics》1988,79(2):151-156
Summary In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division. 相似文献
3.
Clinical and parasitological observations on a case of disseminated furuncular myiasis caused by Cordylobia rodhaini in a man in Ethiopia] 总被引:1,自引:0,他引:1
A severe case of myiasis is reported in an Italian technician working in a forest yard in Illubabor (Ethiopia). The patient returned to Italy with fever, malaise and scattered skin lesions: these were papular at first, and later developed into furuncle-like, intensely burning boils which spread all over the body. Neutrophilic leukocytosis was present associated with increased IgA. From the lesions, 150 larvae were recovered and identified as Cordylobia rodhaini Gedoelst (Diptera, Calliphoridae), a myiasis agent adapted to various thin-skinned mammals in African forests, rarely observed in man. This is the first case recorded in Ethiopia and represents the most massive invasion by Cordylobia spp. published so far. The 3rd stage larva is described with some morphological details not reported by previous authors. 相似文献
4.
In maize leaves nitrogen (N)-deprivation induced a significant decline of chlorophyl and total N contents. On the contrary,
sulphur (S) content increased with N-deprivation. The activities of ATP-sulphurylase and O-acetylserine sulphydrylase also
decreased with N-deprivation, but ATP-sulphurylase activity was more sensitive than O-acetylserine sulphydrylase activity
to N-deficiency both in whole leaf extracts and in isolated leaf cells. Finally, N-deprivation induced higher changes in activity
of the two enzymes in mesophyll protoplasts than in bundle sheath strands.
This research was supported by Consiglio Nazionale delle Ricerche-Special grant I.P.R.A.-Subproject 1. Paper N. 73. 相似文献
5.
The occurrence of hydroxymethylglutaryl coenzyme A (HMG-CoA) reductase in adult Hymenolepis diminuta was demonstrated. This activity was negligible in the cestode's cytosolic fraction but was noted when the mitochondrial or microsomal fraction served as the enzyme source. The predominant localization of HMG-CoA reductase activity was with the microsomal fraction. This fraction did not contain appreciable mitochondrial contamination based on the distribution of marker enzymes. The enzymatic nature of HMG-CoA conversion to mevalonic acid by either fraction was apparent because the reaction was heat labile and responded linearly to time of assay and protein content. The enzymatic reduction of HMG-CoA absolutely required NADPH when either fraction was assayed. The lesser activity of the mitochondrial fraction was membrane-associated. The predominant localization of HMG-CoA reductase activity with microsomal membranes and its separation with the membranous component of the mitochondrial fraction suggest that mitochondrial activity reflects the presence of microsomal membranes. In its predominant localization and pyridine nucleotide requirement, the cestode's HMG-CoA reductase activity resembles that of mammalian systems. The finding of HMG-CoA reductase provides an enzymatic mechanism for the intermediate conversion of HMG-CoA to mevalonic acid that would be needed for acetate-dependent isoprenoid lipid synthesis by adult H. diminuta. 相似文献
6.
Rossella Serra Gloria Isani Otello Cattani Emilio Carpené 《Biological trace element research》1996,51(1):107-116
Gilthead were fed three diets. Diet A was the control diet, whereas diets B and C were supplemented with 300 and 900 mg Zn/kg,
respectively. Fish fed with diet C, at the end of the experiment, showed the lowest weight. Zinc concentrations presented
the higher values in gills, liver, and kidney. Muscle and brain had the lower mean values and showed a tight control of zinc
levels. These results reinforce the hypothesis that zinc in the CNS should be strictly controlled in order to maintain the
functional role of the metal. Significant differences in tissue zinc concentrations were obtained between fish fed different
amounts of zinc, the metal concentrations being higher in tissues of fish fed diet C. The tissue decrease of zinc, found at
the end of the experiment, may depend on a lower feed consumption or on different zinc requirements during the cold season.
These changes, even if not univocal among the three diets, may be associated with the life cycle of fish. Furthermore, copper
concentrations were little affected by the different concentrations of zinc in the three diets; liver and kidney presented
the highest concentrations; liver showed a significant decrease in copper content at the end of the experiment. We conclude
that: zinc concentrations of the diet may affect the gilthead weights and the tissual metal content; and zinc concentrations
in the diets, depending on the growth rate, may be varied depending on the season. 相似文献
7.
A Taddeo A Renieri A Fioravanti G Morozzi E Parrini M S D'Amato M G Ricci 《Bollettino della Società italiana di biologia sperimentale》1984,60(9):1709-1714
Modifications on the binding of uric acid to human plasma proteins have been studied in regularly menstruating females aged 25-30 years with a normal cycle, in comparison with a group of healthy age-matched males and with a group of post-menopausal females. The binding of uric acid to plasma proteins was estimated using micropartition system Amicon. The results obtained demonstrate a significant increase of uric acid binding during ovulatory and mid-luteal phase of menstrual cycle. No modifications are shown in post-menopausal females and in healthy males. No modifications have been shown with the same experiments performed in vitro. 相似文献
8.
J R McKelvey C F Fioravanti 《Comparative biochemistry and physiology. B, Comparative biochemistry》1984,77(4):737-742
Acetylpyridine NADP replaced NADP in promoting the Mn2+ ion-requiring mitochondrial "malic" enzyme of Hymenolepis diminuta. Disrupted mitochondria displayed low levels of an apparent oxaloacetate-forming malate dehydrogenase activity when NAD or acetylpyridine NAD served as the coenzyme. Significant malate-dependent reduction of acetylpyridine NAD by H. diminuta mitochondria required Mn2+ ion and NADP, thereby indicating the tandem operation of "malic" enzyme and NADPH:NAD transhydrogenase. Incubation of mitochondrial preparations with oxaloacetate resulted in a non-enzymatic decarboxylation reaction. Coupling of malate oxidation with electron transport via the "malic" enzyme and transhydrogenase was demonstrated by polarographic assessment of mitochondrial reduced pyridine nucleotide oxidase activity. 相似文献
9.
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy 总被引:14,自引:0,他引:14
G. Simoni B. Brambati C. Danesino F. Rossella G. L. Terzoli M. Ferrari M. Fraccaro 《Human genetics》1983,63(4):349-357
Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate); (2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases. 相似文献
10.
Abstract This paper deals with the anatomical and histological study of a silicified specimen of a palm consisting of a part of the trunk surrounded by roots. The sample comes from the Lower Miocene of North West Sardinia. The comparison with fossil species and exsting species leads to the conclusion that the specimen belongs to a new fossil species closely related to Chamaerops humilis L., widespread throughout the Mediterranean area. Paleo-environmental considerations confirm the presence in Sardinia, in the epoch in question, of formations of Mediterranean forest corresponding in part to forest existing in North Africa today. 相似文献