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801.
A Lezin G Cancel G Stevanin D Smadja JC Vernant A Dürr J Martial GG Buisson R Bellance H Chneiweiss Y Agid A Brice 《Canadian Metallurgical Quarterly》1996,97(5):671-676
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders that are clinically and genetically heterogeneous. We report here a genetic linkage study, with five chromosome 12q markers, of three Martinican families with ADCA type 1, for which the spinocerebellar ataxia 1 (SCA1) locus was excluded. Linkage to the SCA2 locus was demonstrated with a maximal lead score of 6.64 at theta = 0.00 with marker D12S354. Recombinational events observed by haplotype reconstruction demonstrated that the SCA2 locus is located in an approximately 7-cM interval flanked by D12S105 and D12S79. Using the z(max)-1 method, multipoint analysis further reduced the candidate interval for SCA2 to a region of 5 cM. Two families shared a common haplotype at loci spanning 7 cM, which suggests a founder effect, whereas a different haplotype segregated with the disease in the third family. Finally, a mean anticipation of 12+/-14 years was found in parent-child couples, with no parental sex effect, suggesting that the disease might be caused by an expanded and unstable triplet repeat. 相似文献
802.
This report describes a population-based case-control study that aimed to assess and quantify the risk of children with congenital malformations developing cancer. Three sources of data were used: the Victorian Cancer Register, the Victorian Perinatal Data Register (VPDR) and the Victorian Congenital Malformations/Birth Defects Register. Cases included all Victorian children born between 1984 and 1993 who developed cancer. Four controls per case, matched on birth date, were randomly selected from the VPDR. Record linkage between registers provided malformation data. A matched case-control analysis was undertaken. Of the 632 cancer cases, 570 (90.2%) were linked to the VPDR. The congenital malformation prevalence in children with cancer was 9.6% compared with 2.5% in the controls [odds ratio (OR) 4.5, 95% CI 3.1-6.7]. A strong association was found with chromosomal defects (OR=16.7, 95% CI 6.1-45.3), in particular Down's syndrome (OR=27.1, 95% CI 6.0-122). Most other birth defect groups were also associated with increased cancer risk. The increased risk of leukaemia in children with Down's syndrome was confirmed, and children with central nervous system (CNS) defects were found to be at increased risk of CNS tumours. The report confirms that children with congenital malformations have increased risks of various malignancies. These findings may provide clues to the underlying aetiology of childhood cancer, as congenital malformations are felt to be a marker of exposures or processes which may increase cancer risk. The usefulness of record linkage between accurate population-based registers in the epidemiological study of disease has also been reinforced. 相似文献
803.
PH Elzer FM Enright L Colby SD Hagius JV Walker MB Fatemi JD Kopec VC Beal GG Schurig 《Canadian Metallurgical Quarterly》1998,59(12):1575-1578
A series of non-natural N-acyl derivatives of lactosamine is incubated with recombinant alpha(1-3)galactosyl-transferase and UDP-galactose. The enzyme shows a high promiscuity towards the non-natural acceptors. It selectively transfers a galactose unit onto the 3-OH group of the terminal beta-linked galactose in an alpha-mode to give an array of linear-B trisaccharides. 相似文献
804.
805.
The frequency of 24 HLA antigens was determined in 43 patients with giant cell arteritis (25 of whom had polymyalgia rheumatica) and 12 others with polymyalgia rheumatica without evident arteritis. No haplotype was present in significantly increased frequency above controls in the total group nor when the patients were separated according to the presence or absence of polymyalgia rheumatica. 相似文献
806.
RA Gundorova PV Makarov OS Slepova GG Bordiugova LV Gankovskaia LV Koval?huk GN Bykovskaia IA Gavrilova 《Canadian Metallurgical Quarterly》1996,112(3):19-21
Fluorometry of histamine and serotonin in cadaveric blood revealed a threefold increase of their concentrations in comparison with those in whole blood of live subjects. This indicates liberation of amines in the course of death and after it when factors inactivating them cease to function. However, the authors consider it possible to validate their conclusions about changes in the content of histamine and serotonin in cadaveric tissues in different diseases, provided certain conditions of selecting the material are adhered to. The distribution of amines in the viscera is not sex-dependent, little depends on the blood content of tissues, and is determined by the organ-specific features of metabolism of these bioactive substances. To illustrate this, the authors consider the content of histamine and serotonin in the organs of patients dead from hemorrhagic fever with the renal syndrome. 相似文献
807.
Molecular modelling of the nicotinic acetylcholine receptor transmembrane region in the open state 总被引:1,自引:0,他引:1
Ortells MO; Barrantes GE; Wood C; Lunt GG; Barrantes FJ 《Protein engineering, design & selection : PEDS》1997,10(5):511-517
A model of the nicotinic acetylcholine receptor transmembrane region has
been constructed which may represent the channel in its open-state. The
positions of helices flanking the ion channel match those observed by
electron microscopy and previously reported by others. Residues labelled,
mutated or by other means known to have a strong influence on ion flux are
each accessible from the lumen of the modelled channel. The model provides
new insights into our current understanding of the ion channel structure,
and suggests some novel explanations for the results of labelling and
mutation studies such as those involving ion channel blockers and
residue-dependent changes in ion selectivity.
相似文献
808.
Sumatriptan, a 5-hydroxytryptamine1, (5-HT1) receptor agonist is an effective abortive agent for migraine headaches. A common side effect in 3% to 7.9% of patients is chest pain. Although most cases of chest pain are not thought to be of cardiac origin, its mechanism is not entirely understood. Rare examples of electrocardiogram changes consistent with transient ischemia have been reported. Isolated instances of angina, arrhythmia, myocardial infarction, and death have been temporally associated with sumatriptan administration. In most cases, it is unclear whether underlying cardiovascular disease existed or contributed to this adverse event. We report the history of a 56-year-old female patient with migraine who experienced a myocardial infarction shortly after using sumatriptan, despite having had a normal cardiovascular evaluation. As she had a normal cardiac catheterization after the event, we find it probable that sumatriptan induced coronary vasospasm and myocardial infarction. 相似文献
809.
810.
JA Ricci NW Jerome I Sirageldin H Aly W Moussa O Galal GG Harrison A Kirksey 《Canadian Metallurgical Quarterly》1996,42(5):651-659
The women's initiative launched by the United Nations Decade for Women has sparked unresolved controversy over the consequences of mothers' increased participation in economically productive activities on children's well-being. Clearly, in many developing countries, poor mothers face stringent time constraints requiring trade-offs in time allocated to various activities, including child caregiving. However, the impact of these trade-offs on children's well-being remains unclear. The effect of maternal time use on children's nutrition and health status requires more rigorous examination. In particular, the role of children's age in this relationship is critical. Although children's requirement for maternal care varies with factors such as their age (a proxy for stage of psychobiological and sociocultural development), season of year and family size and structure, children's age has not been highlighted in the debate or in the relevant research. This paper documents children's age as a critical factor in the relationship between maternal patterns of time use and the well-being of children 18-30 months of age in peri-urban Egypt. It describes differences in maternal patterns of daily time use according to children's age and illustrates the differential associations between maternal daily activity patterns and children's well-being by children's age. Quantitative data collected on 161 mother-toddler pairs included information on maternal daily time allocation, children's dietary energy intake and diarrheal morbidity, maternal hemoglobin, and household and individual sociodemographics. Data were stratified by children's age at 24 months and were analyzed cross-sectionally using multiple linear and logistic regression. Results indicated that the age of two is critical in Kalama. At this age, toddlers begin to receive less time-intensive care freeing mothers for economic and self production. With respect to children's well-being prior to age two, frequency of feeding was positively related to their energy intake and more time spent in household sanitation activities reduced children's risk of diarrhea (during the diarrhea season). After two years of age, the maternal behaviors measured did not affect children's energy intake; however, children's diarrheal risk was reduced (during the diarrhea season) when mothers held them more and allocated more time to household sanitation year-round. We recommend that other investigators carefully examine the relationships between children's well-being according to developmentally-defined child age intervals and maternal patterns of time use. Results will help to resolve concern over the effect of maternal participation in economically productive activities on children's well-being. 相似文献