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We evaluated the Kodak Ektachem clinical chemistry slide for assay of theophylline. Assay precision and accuracy were acceptable in the therapeutic range although precision was poor at low levels of theophylline. The assay performed well with patients' samples using the Abbott TDx as the reference procedure but, as indicated by the manufacturer, uremic samples gave a positive bias, particularly in the therapeutic range. Finally, the significant bias observed with Quality Control material, probably due to matrix sensitivity, is a possible drawback. 相似文献
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Gene conversion is a likely cause of mutation in PKD1 总被引:3,自引:0,他引:3
Watnick TJ; Gandolph MA; Weber H; Neumann HP; Germino GG 《Human molecular genetics》1998,7(8):1239-1243
Approximately 70% of the gene responsible for the most common form of
autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in
several highly homologous copies located more proximally on chromosome 16.
We recently have described a novel technique for mutation detection in the
duplicated region of PKD1 that circumvents the difficulties posed by these
homologs. We have used this method to identify two patients with a nearly
identical cluster of base pair substitutions in exon 23. Since pseudogenes
are known to be reservoirs for mutation via gene conversion events for a
number of other diseases, we decided to test whether these sequence
differences in PKD1 could have arisen as a result of this mechanism. Using
changes in restriction digest patterns, we were able to show that these
sequence substitutions are also present in N23HA, a rodent-human somatic
cell hybrid that contains only the PKD1 homologs. Moreover, these changes
were also detected in total DNA from several affected and unaffected
individuals that did not harbor this mutation in their PKD1 gene copy. This
is the first example of gene conversion in PKD1 , and our findings
highlight the importance of using gene-specific reagents in defining PKD1
mutations.
相似文献
5.
Inhibition of the bacteriolytic effect of beta-lactam-antibiotics on Staphylococcus aureus by the polyanionic drugs suramin and Evans Blue 总被引:2,自引:0,他引:2
J Wecke M Franz P Giesbrecht 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》1990,98(1):71-81
The anionic polyelectrolytes suramin and Evans Blue inhibited different autolytic systems involved in wall growth and wall turnover of growing staphylococci and in wall autolysis of resting bacteria. Moreover, both substances lowered the beta-lactam-induced pre-lytic release of cytoplasmic constituents from staphylococci, and inhibited the beta-lactam-induced bacteriolysis as well as the loss of viability. The protective effects of these sulfonated drugs against bacteriolysis were also monitored by electron microscopy. Some medical implications of our results are discussed. 相似文献
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Lise Anglin Norman Giesbrecht Anca Ialomiteanu Larry Grand Robert Mann Janet McAllister 《Drugs (Abingdon, England)》2004,11(1):21-33
In Ontario, some court cases have involved attempts to sue social hosts for damage caused by the behaviour of drunken guests. Such legal actions give rise to the question of risks and responsibilities accruing to social hosts who serve alcohol. Using a sample of 1395 male and female adult residents of Ontario, the authors present self-report survey data concerning frequency of serving alcohol to guests, methods of handling guests who have too much to drink, prevention of drunk driving, service of alcohol to underage persons, and offering food and non-alcoholic drinks when serving alcohol at home. The results show high levels of intended safe practices overall, along with some areas for concern. Notably, about one-third of the total sample had had guests judged to be too drunk to drive home safely. A multivariate analysis confirmed significant differences associated with sex and age. The authors recommend the creation and evaluation of programmes to upgrade home-hosting skills as an adjunct to systemic alcohol control policies. 相似文献
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BACKGROUND & AIMS: Shwachman syndrome is an inherited condition with multisystemic abnormalities, including exocrine pancreatic dysfunction. The aim of this study was to evaluate the occurrence and progression of features in a large cohort of patients. METHODS: Clinical records of 25 patients with Shwachman syndrome were reviewed. RESULTS: Mean birth weight (2.92 +/- 0.51 kg) was at the 25th percentile. However, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Severe fat maldigestion due to pancreatic insufficiency was present in early life (fecal fat, 26% +/- 17% of fat intake; age, < 2 years). Serial assessment of exocrine pancreatic function showed persistent deficits of enzyme secretion, but 45% of patients showed moderate age-related improvements leading to pancreatic sufficiency. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Patients with hypoplasia of all three bone marrow cellular lines (n = 11) had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogenous leukemia. Other findings included hepatomegaly and/or abnormal liver function test results and skeletal abnormalities. CONCLUSIONS: A wide and varied spectrum of phenotypic abnormalities among patients with Shwachman syndrome is described. Pancreatic acinar dysfunction is an invariable abnormality. Patients with severe bone marrow involvement may have a guarded prognosis. (Gastroenterology 1996 Dec;111(6):1593-602) 相似文献
9.
Aim. To provide an overview of recent privatization/deregulation experiences in North America and other settings, in order to draw conclusions about the impacts that might be expected from such changes on rates of alcohol consumption and related problems. Methods. Critical review of research evidence on the effect of changes in availability, particularly changes in physical availability and economic availability that typically accompany privatization of alcohol retail monopolies. Findings. Deregulation/privatization experiences commonly involve higher density of outlets, longer hours or more days of sale, changes in price, a strong orientation to commercial aspects of alcohol sales and the introduction of new vested economic interests into alcohol management arrangements in the jurisdiction. In many instances these changes in access to alcohol are accompanied by an increase in the per capita rates of consumption. In the short term changes in prices are likely to either increase or demonstrate opposite patterns for beverages with different base prices. Longer-term patterns point to a decline in real price with privatization, which very probably stimulates per capita alcohol sales. Conclusion. The existing evaluation literature on the subject of privatization has tended to focus on examining the net short-term results in terms of alcohol consumption levels. Overall, there are too few studies employing adequate statistical methodologies to explore the underlying causes of changing alcohol consumption and alcohol-related harm. Finally, seven specific suggestions that may assist future studies are discussed. 相似文献
10.
Gerald F. Giesbrecht Douglas A. Granger Tavis Campbell Bonnie Kaplan the APrON Study Team 《Developmental psychobiology》2013,55(2):156-167
Diurnal patterns of salivary alpha amylase (sAA) in pregnant women have not previously been described. The current study employed ecological momentary assessment to examine the association between the diurnal sAA, obstetric history, maternal demographics, and mood during pregnancy. Saliva was self‐collected by 83 pregnant women (89% White, age 25.3–43.0 years; mean gestational age 21.9 weeks, range 6–37 weeks; gravida 1–6) at home over three days. Results indicated that current pregnancy (gestational age and fetal sex) and maternal demographics were not related to diurnal sAA. In contrast, a history of previous miscarriage (Parameter = ?.17; SE = .05; p < .05) was associated with an atypical diurnal pattern. Even after accounting for obstetric history, trait anxiety (Parameter = .16; SE = .04; p < .001) was associated with increased sAA over the day while chronic levels of fatigue (Parameter = ?.06; SE = .03; p < .05) were associated with decreased sAA. In a separate model, we also tested the time varying covariation of sAA and mood. The effects of momentary mood were in contrast to those for trait mood. Both momentary depression (Parameter = .22; SE = .09; p < .01) and vigour/positive mood (Parameter = .12; SE = .04; p < .001) were associated with momentary increases in sAA while momentary anxiety and fatigue were not related to sAA. The findings suggest that basal sAA during pregnancy is sensitive to emotional arousal. Evaluating diurnal patterns of sAA holds promise for advancing understanding of how emotional arousal during pregnancy may affect fetal development. © 2012 Wiley Periodicals, Inc. Dev Psychobiol 55: 156–167, 2013 相似文献