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41.
The genetic defect in the p67phox-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with HindIII and probed with p67phox cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67phox gene using the cDNA and sequenced the exon/intron boundaries, mapping 16 exons on the 40-kb gene. The polymorphic region was then sequenced to identify the inheritance pattern of amniocentesis-derived fetal cells by genomic amplification. The proband, a 9-year-old female patient with p67phox-deficient CGD, and her phenotypically normal mother are homozygous for the RFLP marker, whereas the father and two brothers are heterozygous. The fetus was shown to be heterozygous as well, showing it had inherited at least one normal p67phox gene from the father and that it was predicted to have a normal phenotype. Cord blood samples at birth showed normal oxidative function. Amplification allows rapid detection of the inheritance pattern for fetal diagnosis in informative families. We report the genomic structure of p67phox and an amplification-based method for detection of the marker on chromosome 1q25, used here for prenatal diagnosis of CGD. 相似文献
42.
Koz'minykh E. N. Belyaev A. O. Koz'minykh V. O. Makhmudov R. R. Odegova T. F. 《Pharmaceutical Chemistry Journal》2002,36(11):604-607
Pharmaceutical Chemistry Journal - 相似文献
43.
N D Belyaev V G Budker L V Deriy I A Smolenskaya V M Subbotin 《Hepatology (Baltimore, Md.)》1992,15(3):525-531
During experimental CCl4 cirrhosis, an increase of membrane-associated factor stimulating 3T3 cell proliferation in vitro was observed. This stimulator is a 150-kD protein similar to one previously described. In situ perfusion released growth stimulatory activity, suggesting a peripheral plasma membrane protein localizing on basolateral surfaces. The activity increased with increasing number of CCl4 treatments, reaching a maximum at the 14th intoxication. It was faster than the proliferation of connective tissues determined histologically. Cessation of treatment caused a decrease in activity to that of the level of untreated liver, although the number of fibroblastlike cells remained large. This data, taken with the results of experiments with enriched hepatocyte fraction, may serve as an evidence in favor of hepatocyte origin of the factor. A factor inhibiting fibroblast proliferation was measured in detergent extracts from membranes, suggesting an integral membrane protein. The activity of the inhibitory factor increased in acute liver lesions, but at the stage of maximal fibrogenesis this factor is reduced to levels comparable to those of the intact liver. Therefore it is unlikely that this factor is involved in CCl4-induced fibrogenesis at the final stages. These factors may be common controls for various hepatic lesions causing fibrosis, both in clinical and experimental modeling. 相似文献
44.
D K Belyaev I I Fomicheva A V Taranin O K Baranov 《Experimental and clinical immunogenetics》1986,3(1):10-19
By means of intraspecific immunization of domestic mink (Mustela vison Schr.), 8, in all probability, complex IgG allotypes were detected in their sera. Based on the results of analysis of the preparations of the IgG heavy (H) and light (L) chains, as well as proteolytic IgG fragments, we assigned the allotypes detected to three groups: (1) marker of the L chain, L1; (2) allotypes of the C region of gamma-chains (H2, H3, H4, H6, and H8) and conformational allotype H7; (3) conformational allotype 5 with unknown location on the chains. 相似文献
45.
Pharmacokinetics of midazolam in Vietnamese subjects 总被引:2,自引:0,他引:2
KR BALSON DJ MORGAN BH RICHMOND ME McALINDON SL ELLIOTT ND YEOMANS 《Journal of gastroenterology and hepatology》1996,11(10):1177-1180
46.
47.
The efficacy of the Sydney ambulance paramedic service in dealing with out-of-hospital cardiac and other emergencies was examined. The outcome of 182 cases (from a total of 1,799 casualty calls) treated by a paramedic service was compared with the outcome of 104 similar cases (from a total of 2,376 calls) treated by a general duties service. There were 33 cases of cardiac arrest in the general duties group; resuscitation was attempted in 12 and none survived. There were 49 cases of cardiac arrest in the paramedic group; resuscitation was attempted in 21 cases and 4 survived. There were 35 cases of suspected myocardial infarction in the general duties group; 7 died compared with 58 cases and 4 deaths, in the paramedic group (mortality 20%, cf. 7%; difference not significant). The increased cost of a paramedic call, less than half of an entire hospital day, appears justified by better results. 相似文献
48.
Christophe A. Muller Orlin Belyaev Michael Vogeser Dirk Weyhe Beat Gloor Oliver Strobel 《Scandinavian journal of gastroenterology》2013,48(11):1354-1361
Objective. Infected pancreatic necrosis is the main cause of death in patients with acute pancreatitis, and therefore its early prediction is of utmost importance. Endogenous cortisol metabolism plays a basic role both in the course of acute pancreatitis and in the process of infection. The purpose of this study was to analyze corticosteroid-binding globulin (CBG), total cortisol, calculated free cortisol and adrenocorticotropic hormone as potential early predictors in order to differentiate between infected pancreatic necrosis and sterile pancreatic necrosis in patients with acute pancreatitis. Material and methods. Serum levels of CBG, total cortisol, calculated free cortisol, and plasma levels of adrenocorticotropic hormone were determined in 109 consecutive patients with acute pancreatitis. C-reactive protein was measured as the control parameter. Thirty-five patients developed necrotizing pancreatitis and 10 developed infection of the necrosis. Blood was monitored for 6 days after the onset of pain; 30 healthy individuals served as controls. Results. Of all parameters only CBG showed a significant difference (p=0.0318) in its peak levels measured in the first 48 h in patients with sterile (26.5 µg/ml, range 21.3–34.7) and infected (16.0 µg/ml, range 15.2–25.0) necrosis at a cut-off level of 16.8 µg/ml. That difference was further preserved for the first 6 days after onset of pain. Conclusions. In our group of patients, a decreased CBG level below 16.8 µg/ml within the initial 48 h of acute pancreatitis was an early predictor of later infected pancreatic necrosis, with a positive predictive value of 100% and a negative predictive value of 87.5%. 相似文献
49.
ÖZGE GÜNDÜZ M.D. SIBEL ERSOY‐EVANS M.D. AYŞEN KARADUMAN M.D. 《Pediatric dermatology》2009,26(6):750-751
Abstract: Pityriasis rosea (PR) is an acute, self‐limiting papulosquamous disorder of unknown etiology. Published studies of childhood PR are scarce and most are reviews. The aim of this study was to determine the demographic and clinical features of childhood PR. 相似文献
50.
DB Grant ND Barnes M Dumic M Ginalska-Malinowska PJ Milla W von Petrykowski RJ Rowlatt R Steendijk JH Wales E Werder 《Archives of disease in childhood》1993,68(6):779-782
Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle weakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension. These findings indicate that significant neurological problems are common in this multisystem disorder. 相似文献