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131.
132.
NN Bogdanov LP Iakupova NL Gorbachevskaia LF Kozhushko EA Pankratova 《Canadian Metallurgical Quarterly》1993,329(2):241-245
We have examined the type I collagen protein, RNA, and cDNA of 2 children with moderately severe (type IV) osteogenesis imperfecta (OI). They have in common a non-lethal form of OI with ambulatory potential, overmodification of type I collagen protein, and a substitution of serine for glycine in the collagen chain produced by one alpha 1(I) allele. The first child (Marini et al.: J Biol Chem 264:11893-11900, 1989) is now 7 years old, with the height of a 3-year-old. Her course includes significant remodeling of lower long bones and 4 femur fractures. She walks independently. A mishmatch was detected in her alpha 1(I) mRNA using RNA/RNA hybrids; it was demonstrated to be due to a G-->A point mutation in one allele of alpha 1(I), resulting in the substitution of serine for glycine 832. The second child is now 6 1/2 years old, with the height of 1 1/2-year-old. Her history includes significant bowing of femurs and tibias, 6 femur fractures, S-curve scoliosis, compression of all lumbar vertebrae, and limited short-distance walking with braces. Her alpha 1(I) mRNA has also been studied by RNA hybrid analysis; there is a single G-->A change in one alpha 1(I) allele causing the substitution of serine for gly 352. Both children have moderately severe OI. However, the serine substitution at gly 352 is associated with a more severe phenotype then is the serine substitution at gly 832. Compared to substitutions described in other cases of OI, the serine 352 is located in the middle of a cluster of cysteine substitutions associated with non-lethal OI.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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135.
EP Ivanov GV Tolochko LP Shuvaeva S Becker E Nekolla AM Kellerer 《Canadian Metallurgical Quarterly》1996,35(2):75-80
Childhood leukemia (ICD 204-208 [1]) incidence rates in the different regions of Belarus are reported for a period before and after the Chernobyl accident (1982-1994). There are, at this point, no recognizable trends towards higher rates. 相似文献
136.
LF Cardoso M Grinberg MA Ratti LP de Magalh?es I Antelmi CC Medeiros F Tarasoutchi EG Rossi WS Avila G Bellotti 《Canadian Metallurgical Quarterly》1993,61(2):87-91
PURPOSE: To compare immediate and long term results balloon mitral valvuloplasty (BMV) using double balloon or bifoil balloon. METHODS: One hundred and thirteen consecutive cases of BMV used aleatory double balloon (group DB--55 cases) or bifoil balloon (group BF--16 cases). Patients were similar regarding to age, sex, valvopaty etiology, functional class and echocardiographic score. Seventy one (63%) patients achieved 12 months follow-up. RESULTS: In group DB there were 2 (4%) insuccess, 2 (4%) cardiac tamponade and 2 (4%) deaths, 91% patients had immediate criteria of success. Mitral valve area (MVA) increased from 0.8 to 1.69cm2 and mitral gradient (G) by echodopplercardiographic (ECHO) decreased from 17.9 to 4.8mmHg. Three (5%) patients developed severe mitral regurgitation (MR) and needed surgical intervention. At follow-up 2 (4%) developed mitral restenosis. MVA estimated by ECHO study after one year follow-up was inferior to 1.15cm2 in 15 (32%) cases, between 1.5 and 2.0cm2 in 17 (37%) and superior to 2.0cm2 in 14 (31%). In group BF there were 2 (12.5%) insuccess, 4 (25%) developed severe MR occurring 1 death immediate post-operative mitral valve replacement. Among 14 (87%) success cases, MVA increased from 0.8 to 1.89cm2 and G decreased from 18 to 6.4mmHg. Lately 2 (12.5%) needed surgical intervention because significative MR. At 12th month follow-up the ECHO study showed that in one (10%) case MVA was < 1.5cm2, and in 3 (27%) cases was between 1.5 and 2.0cm2. CONCLUSION: There were similar good results in both groups, however group DB had more restenosis, cardiac tamponade and vascular complications and group BF had more severe MR. 相似文献
137.
OBJECTIVE: Different sets of diagnostic criteria have been proposed for Sj?gren's syndrome (SS), but none have been validated with a large series of patients or in a multicenter study. We conducted the present study involving 26 centers from 12 countries (11 in Europe, plus Israel), with the goals of reaching a consensus on the diagnostic procedures for SS and defining classification criteria to be used in epidemiologic surveys and adopted by the scientific community. METHODS: The study protocol was subdivided into two parts. For part I, questionnaires regarding both ocular and oral involvement were developed; they included 13 questions and 7 questions, respectively. For part II a limited set of diagnostic tests was selected, and the exact procedure to be followed in performing these tests was defined. Part I of the study included 240 patients with primary SS and 240 age- and sex-matched controls. Two hundred forty-six patients with primary SS, 201 with secondary SS, 113 with connective tissue diseases but without associated SS, and 133 control patients were studied in part II. RESULTS: The study resulted in (a) the validation of a simple 6-item questionnaire for determination of dry eyes and dry mouth, which showed good discriminant power between patients and controls, to be used in the initial screening for sicca syndrome; and (b) the definition of a new set of criteria for the classification of SS. The sensitivity and specificity of the criteria in correctly identifying patients with either the primary or the secondary variant of SS were also determined. CONCLUSION: Using the findings of this prospective multicenter European study, general agreement can be reached on the diagnostic procedures to be used for patients with SS. Final validation of the preliminary classification criteria for SS is underway. 相似文献
138.
S Lamy LP da Silva B Lopes P Pacheco J Lavinha JM Amaral JM Marques 《Canadian Metallurgical Quarterly》1997,10(2-3):209-212
A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed. 相似文献
139.
ND Henderson SM Lacy CC O'Hare JA Hartley S McClean LP Wakelin LR Kelland DJ Robins 《Canadian Metallurgical Quarterly》1998,13(7):749-768
The aim of this work was to develop new bifunctional alkylating agents which damage DNA in a selective manner. In order to extend our previously published work on conformationally restricted nitrogen mustards containing one piperidine ring, new bispiperidine derivatives were designed with varying lengths of carbon chain between the two rings and structure-activity relationships in these systems were studied. Thus samples of new bispiperidine salts 22-26 with chloromethyl groups at the 2-positions and a bridge between the two nitrogen atoms of 2-6 carbon atoms were synthesized. The analogous new bis(p-nitrophenylcarbamates) 17-21 were also prepared. The free bases were designed to be bifunctional alkylating agents via aziridinium ion formation with different distances between the two alkylating sites. The bispiperidines 22-24 were shown to alkylate guanines at the 7-position in the major groove of DNA more selectively than melphalan. The bispiperidine 22 with the shortest two carbon bridge was the most reactive but it was less cytotoxic than melphalan in a human colon carcinoma cell line (IC50 value approximately 30 microM) and in a human chronic myeloid leukaemia cell line (IC50 value approximately 12 microM). The most cytotoxic compound in the latter cell line was the carbamate 17, with an IC50 value of approximately 0.3 microM, and carbamates 17, 19 and 20 were most potent in a panel of human ovarian carcinoma cell lines. These compounds also showed circumvention of acquired cisplatin resistance in three paired cell lines. The carbamates 17-21, however, were less efficient at alkylating and cross-linking naked DNA than the bispiperidines 22-26. 相似文献
140.
After milk ejection, piglets spend several minutes massaging their own teats on the sow. We examined whether this behaviour could be a mammalian counterpart to begging in young birds, and hence be explained by theories of honest begging. In one experiment, the behaviour of piglets was examined in relation to their previous milk intake. In each of 16 litters, one focal piglet was exposed to three treatments for three consecutive sucklings: 'no milk', where the piglet was withheld from the teat during milk ejection; 'extra milk', where it was fed 10 ml of extra milk directly after milk ejection; and 'control', when it received its normal intake. Average massage duration in the next three sucklings was significantly longer in the 'no milk' than in the control piglets. 'No milk' pigs massaged more intensely (number of massage movements/min), were more persistent in attempting to maintain udder contact and spent less time away from the udder. However, there were no significant differences between 'control' and 'extra milk' treatments. In a second experiment, in which we manually massaged teats for 0, 3 or 10 min, we found no significant effect of massage duration on milk output (measured by weighing piglets before and after milk ejection), although massage tended to increase output. We conclude that post-sucking massage in piglets has a number of aspects similar to honest begging in birds. Copyright 1998 The Association for the Study of Animal Behaviour. Copyright 1998 The Association for the Study of Animal Behaviour. 相似文献