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61.
The synthesis of the new tricyclic system ring 6-methyl-2,3,10,11-tetrahydroimidazo (1',2',3'-CD) pyrimido (5,4-b) (1,4) diazepinediones-5,8 is described. The 4-aryl- and 5-amino-imidazopyrimidodiazepines have also been obtained. The synthesis started from derivatives of 2-hydroxy-6-methyl-5-pyrimidine carboxylic acids. Some of the chemical and biological properties of new compounds are described. 相似文献
62.
63.
Barbara Biedziak Justyna Dąbrowska Anna Szponar-Żurowska Ewelina Bukowska-Olech Aleksander Jamsheer Ewa Mojs Jennifer Mulle Rafał Płoski Adrianna Mostowska 《American journal of medical genetics. Part A》2023,191(1):205-219
Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion. 相似文献
64.
Gasiorowski K Szyba K Brokos B Kołaczyńska B Jankowiak-Włodarczyk M Oszmiański J 《Cancer letters》1997,119(1):37-46
Anthocyanins belong to the flavonoid family and are ubiquitous in plants, especially in flower petals and fruit peels. We established that anthocyanins isolated from fruits of Aronia melanocarpa markedly inhibited the mutagenic activity of benzo(a)pyrene and 2-amino fluorene in the Ames test. In the Sister Chromatid Exchanges (SCEs) test with human blood-derived lymphocytes cultured in vitro, a significant decrease of SCEs frequency induced by benzo(a)pyrene was observed in the presence of anthocyanins. In the case of mitomycin C the effect of anthocyanins on SCEs frequency was smaller but still noticeable. Anthocyanins markedly inhibited the generation and release of superoxide radicals by human granulocytes. The results suggest that the antimutagenic influence of anthocyanins is exerted mainly by their free-radicals scavenging action as well as by the inhibition of enzymes activating promutagens and converting mutagens to the DNA-reacting derivatives. These preliminary data seem to be important in the aspect of a possible antimutagenic and anticarcinogenic potency of anthocyanins commonly present in fruits and vegetables. 相似文献
65.
Jastrzebska M Torbus-Lisiecka B Pieczul-Mróz J Chełstowski K Naruszewicz M 《Materia medica Polona. Polish journal of medicine and pharmacy》1997,29(1-4):3-7
The concentrations of fibrinogen (Fb) and the activities of factor VII (F VIIC) and antithrombin III (AT III) both in men less than 55 years old with a history of myocardial infarction (MI) and with normolipemia (MI-NLP) or hyperlipoproteinemia (MI-HLP) and in their sons have been measured. A significantly higher levels of Fb were found in both MI groups. Significantly higher levels of F VIIC and AT III were found only in the MI-NLP group. No lipid or haemostatic disorders were noted in sons. Furthermore, a positive correlation between the level of F VIIC and triglycerides (TG) or total cholesterol (TCh) in the patients and sons was revealed. A positive correlation was found between: (a) Fb levels in MI-HLP patients and in their sons; (b) TG levels in MI-HLP patients and in their sons; and (c) AT III activity in MI patients and in their sons. Fibrinogen appears to be associated with ischemic heart disease more closely than factor VII, the latter being strongly linked with hypertriglyceridemia. Elevated activities of AT III may reflect the haemostatic response to the prothrombotic state in IHD on the one hand whereas they may contribute to the development of IHD on the other. 相似文献
66.
Mercury concentration was determined in the caps and stalks of nine species of edible mushrooms collected at the area of Wieluńska Upland in district of Czestochowa in 1995-96. The mushroom species examined were such as: yellow-cracking bolete Xerocomus subtomentosus, brown birch scaber stalk Leccinum scabrum, slippery Jack Suillus luteus, larch bolete Suillus grevillei, gray knight-cap Tricholoma terreum, parasol mushroom Macrolepiota procera, horse mushroom Agaricus arvensis, fennel funnel cap Clitocybe odora, fairy-ring mushroom Marasmius oreades and tacky green brittle gills Russula aereuginea. The method of mercury measurement was cold-vapour atomic absorption spectroscopy (CV-AAS) after wet digestion of the samples with concentrated nitric acid in a whole glass system. The parasol mushroom and horse mushroom showed a highest mercury concentrations and contained, respectively, 4500 +/- 1700 and 4400 +/- 2400 ng/g dry wt in caps, and 2800 +/- 1300 and 2800 +/- 2100 ng/g dry wt in stalks. In the case of fennel funnel cap and fairy-ring mushroom the mean total mercury concentrations in caps was above 500 ng/g dry wt, and for other species were between 150 +/- 50 and 500 +/- 230 ng/g dry wt. The stalks of the mushroom species examined in all cases showed lower contamination with mercury than caps. The mean total mercury concentrations noted in caps and stalks of mushrooms examined were usually higher than was reported till now in the same species elsewhere in Poland, while a maximum values found in an individual fruiting bodies are within the range of the concentrations noted in specimens collected from an unpolluted areas. 相似文献
67.
Szmidt-Sałkowska E Rowiñska-Marciñska K Fidziañska A Hausmanowa-Petrusewicz I 《Electromyography and clinical neurophysiology》1999,39(2):87-92
The aim of present study was to analyse possible myopathic changes in the muscles of manifesting carriers of Duchenne Muscular Dystrophy (DMD) using concentric needle emg and macroemg methods. Our material consisted of 10 manifesting carriers aged 9-52 (mean 30 years) and 20 healthy age-matched females. Concentric needle emg (CNEMG) and macroemg was performed in biceps brachii (BB) muscle in both groups: carriers and controls. Myopathic changes were observed in BB muscle in 5 of 10 manifesting carriers using CNEMG and in all cases (10 carriers) using macroemg method. Macro electrode, which reflects total motor unit activity, i.e., the total number and size of component muscle fibres, supplies information about early myogenic lesion of the muscle. Therefore the macroemg seems to be a sensitive and useful electrophysiological diagnostic method in carriers of DMD. 相似文献
68.
Piotrowski P Gajkowska B Olszewska H Smiałek M 《Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences》1999,37(4):256-263
Male Wistar rats were subjected to streptozotocin administration (85 mg/kg i.p.) and to cerebral air embolia with common carotids ligation. Electron microscope studies showed dark neurons, degeneration of endothelial cells and changes in basement membrane of brain capillaries, and changed astroglia in diabetic rats. Our results seem to support our previous findings in light microscopy and correspond with some others authors' suggestions that diabetes leads to chronic, generalized pathologic process in diabetic-rat brain, not-only dependent on vascular pathology, but which may be related to an oxidative/metabolic stress leading to a death of neurons in necrotic or apoptotic way. 相似文献
69.
Zakrzewski K Kubicki M Polis L Nowosławska E Liberski PP 《Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences》1999,37(3):148-151
Forty-five children with primary brain tumors were evaluated by in vivo proton magnetic resonance spectroscopy (MRS) with the aim of detecting correlations between the obtained spectra and tumor malignancy and histology. All investigations were performed using a 1.5 T MR scanner (Picker) with point-resolved spectroscopic (PRESS) sequence (TR 1600 ms, TE 270 ms, NEX 256). Spectra were analyzed for N-acetylaspartate (NAA), choline containing-compounds (Cho), creatine and phosphocreatine (Cr) and lactate (Lac). The Cho/NAA ratio was the most useful parameter for differentiating between normal brain, benign and malignant tumors as well as discriminating the three main groups of pediatric brain tumors namely pilocytic astrocytoma, ependymoma and medulloblastoma. Proton MRS appears to be an important noninvasive technique in the differential diagnosis of pediatric brain tumors. 相似文献
70.