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排序方式: 共有633条查询结果,搜索用时 25 毫秒
1.
ALBERTO Q FARIAS LUCIANA L GONÇALVES EDUARDO LR CANÇADO ANTONIO C SEGURO SILVIA B CAMPOS CLARICE P ABRANTES-LEMOS FLAIR J CARRILHO 《Journal of gastroenterology and hepatology》2006,20(1):147-152
Background and Aims: Primary biliary cirrhosis (PBC) might be complicated by osteoporosis, whose etiology remains unknown but seems to be multifactorial. Prevalence rates of 30% to 60% for distal renal tubular acidosis (DRTA) have been reported in PBC patients, generally as incomplete DRTA. Although it is undisputed that a reduced bone mineral density (BMD) is the expected outcome among patients who have been suffering from longstanding chronic metabolic acidosis, it is unclear if incomplete DRTA is also associated with metabolic bone disease in PBC patients. The present study was undertaken to compare the BMD of PBC patients with and without DRTA.
Methods: The BMD of 23 PBC patients (11 with DRTA and 12 without), all with normal clearance of creatinine, was assessed by dual energy radiograph absorptiometry. The diagnosis of DRTA was made if the urine pH was above 5.4 in all samples after the oral acid overload, showing tubular inability to acidify urine in the presence of test-induced systemic metabolic acidosis.
Results: Densitometric signs of osteoporosis were found in 82% of DRTA cases and in 83% of patients without DRTA (difference not significant). There were no significant differences in BMD measurement, T and Z scores of patients with and without DRTA.
Conclusions: The present study could not support a correlation between the presence of DRTA and the bone loss observed in PBC patients. 相似文献
Methods: The BMD of 23 PBC patients (11 with DRTA and 12 without), all with normal clearance of creatinine, was assessed by dual energy radiograph absorptiometry. The diagnosis of DRTA was made if the urine pH was above 5.4 in all samples after the oral acid overload, showing tubular inability to acidify urine in the presence of test-induced systemic metabolic acidosis.
Results: Densitometric signs of osteoporosis were found in 82% of DRTA cases and in 83% of patients without DRTA (difference not significant). There were no significant differences in BMD measurement, T and Z scores of patients with and without DRTA.
Conclusions: The present study could not support a correlation between the presence of DRTA and the bone loss observed in PBC patients. 相似文献
2.
Systolic and diastolic blood pressures were measured on 254 monozygotic (MZ) and 260 dizygotic (DZ) male twin pairs, during middle age (average age 48 years) and at two later age points. Genetic and environmental components of covariation were modeled by time series. For both measures, shared environmental influences were absent and specific environmental influences were largely time-specific. Although heritability was about 0.5 at each time point, genetic variation present at middle age contributed only about 60% to that present 9 years later, the remaining 40% being new. Fifteen years later, at the third time point, no new genetic variation was evident, variation in individual differences being entirely attributable to genetic differences laid down at the two earlier ages. © 1993 Wiley-Liss, Inc. 相似文献
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MGC Hendriks P Dogterom JT Ebels B Oosterhuis LR Geertsema T Hulot G Bianchetti and JHG Jonkman 《Fundamental & clinical pharmacology》1998,12(5):559-565
Summary— In the present study we have compared the steady state biopharmaceutic characteristics of four diltiazem once daily controlled release capsules: Mono-Tildiem LP 300® (300 mg), Adizem® XL (300 mg)1, Cardizem® (300 mg) and Dilacor® (240 mg). Sixteen healthy male volunteers (aged 22.9 ± 3.3 years, range 19–31 years) completed an open label, multiple oral dose, randomized, four-period crossover study without a washout period in between. The volunteers received each diltiazem formulation once daily for four days. Trough diltiazem and metabolites plasma concentrations were determined on days 3 and 4. The 24-h plasma concentration-time profiles were assessed after the dose on day 4 of each period. The following steady state pharmacokinetic parameters for diltiazem were calculated: the minimum plasma concentration (cmin), the maximum plasma concentration (cmax), the time to reach that concentration (tmax), the time interval during which the plasma concentration exceeds 50% of cmax (t50), the area under the plasma concentration-time curve (AUC72–96) and the peak-to-trough fluctuation (PTF). For the metabolites of diltiazem, N-mono-desmethyl-diltiazem (NDM) and desacetyldiltiazem (DAD), AUC72–96 (AUCNDM and AUCDAD) and the ratio metabolite/parent compound were calculated. Steady state was achieved on day 3. Except one, all controlled release formulations have satisfactory controlled release properties allowing once daily administration. However, significant (P < 0.05) differences were found between the pharmacokinetic characteristics which do not allow exchange of the various formulations. Concentrations well below 50 ng·mL-1 in the morning hours were observed for Dilacor® (240 mg) and Adizem® XL (300 mg), which could be a disadvantage of these formulations as it is well-known that ischaemic events occur at a higher rate during that part of the day. The plasma concentration profiles of NDM and DAD, the major circulating metabolites, parallel the plasma concentration profiles for the parent compound. From a clinical point of view, all treatments were well tolerated. 相似文献
6.
Bruce F. Pennington Shelley D. Smith Lon R. Cardon Javier Gayán Valerie S. Knopik Richard K. Olson John C. DeFries 《American journal of medical genetics. Part A》2002,114(3):260-268
Comorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc. 相似文献
7.
Chronic pelvic pain (CPP) is a common condition in women that is difficult to diagnose. Although heritability estimates have been published for some conditions potentially underlying pelvic pain, the heritability of CPP itself has never been investigated. Using data from 623 MZ and 377 DZ female twin pairs aged 29–50 from an Australian twin cohort, we found an increased CPP concordance among MZs compared to DZs, with tetrachoric correlations of 0.43 (95% CI: 0.26–0.58) and 0.11 (95% CI: –0.16–0.38), respectively. This corresponded to a heritability of 0.41 (95% CI: 0.25–0.56). Lack of correlations with environmental indicators suggested that violation of the equal environments assumption was not responsible for this effect. Multivariate Cholesky decomposition models incorporating CPP and significantly correlated phenotypes showed that the entire CPP heritability could be explained by genetic variance underlying endometriosis (38%), dysmenorrhoea (23%), fibroids (24%), and somatic distress (15%), the latter a possible indicator of increased nociception. CPP itself is unlikely to be a useful independent phenotype to conduct genetic aetiological studies; contributing conditions such as endometriosis and variation in nociception are likely to provide more useful phenotypes. 相似文献
8.
Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study 总被引:6,自引:0,他引:6
Ober C; Hyslop T; Elias S; Weitkamp LR; Hauck WW 《Human reproduction (Oxford, England)》1998,13(1):33-38
The role that maternal and fetal human leukocyte antigen (HLA) genes play
in pregnancy is unknown, but it has been suggested that fetuses whose HLA
alleles do not differ from maternal alleles (i.e. histocompatible fetuses)
are more likely to be aborted than fetuses with HLA alleles that differ
from maternal alleles (i.e. histoincompatible fetuses). To elucidate the
role of HLA compatibility in pregnancy, we tested the hypothesis that
couples who match for HLA alleles or haplotypes would have reduced
fertility because only these couples could produce histocompatible fetuses.
We conducted a 10 year prospective study of HLA matching and pregnancy
outcome in 111 Hutterite couples, providing information on 251 pregnancies.
A logistic regression analysis was performed to determine the effects of
HLA matching at HLA regions and loci on pregnancy outcome (fetal loss
versus delivery). Significantly increased fetal loss rates were observed
among couples matching for the entire 16-locus haplotype (P = 0.002). Among
the individual loci, loss rates were increased among couples matching for
HLA-B (P = 0.019), HLA-C (P = 0.033) and the complement component, C4 (P =
0.043). We interpret these results as evidence that matching for the entire
16-locus haplotype and/or alleles at an HLA-B-linked locus confers
significant risk for fetal loss.
相似文献
9.
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants 总被引:2,自引:0,他引:2
van Heel DA Dechairo BM Dawson G McGovern DP Negoro K Carey AH Cardon LR Mackay I Jewell DP Lench NJ 《Human molecular genetics》2003,12(20):2569-2575
Genetic studies in inflammatory bowel disease have identified multiple susceptibility loci, whose relevance depends critically on verification in independent cohorts. Genetic variants associated with Crohn's disease have now been identified on chromosomes 5 (IBD5/5q31 risk haplotype) and 16 (IBD1 locus, CARD15/NOD2 mutations). Stratification of genome-wide linkage analyses by disease associated variants is now possible, offering both increased power for identification of other loci and improved understanding of genetic mechanisms. We performed a genome-wide scan of 137 Crohn's disease affected relative pairs from 112 families. Multipoint non-parametric linkage analyses were performed, with further stratification of affection status by common CARD15 mutations and the IBD5 haplotype. We verified linkage of Crohn's disease to regions on chromosome 3 (P=0.0009) and X (P=0.001) in our cohort. Linkage to chromosome 16 (IBD1) was observed in Crohn's disease pairs not possessing common CARD15 mutations (P=0.0007), approximately 25 cM q telomeric of CARD15. Evidence for linkage to chromosome 19 (IBD6) was observed in Crohn's disease pairs not possessing CARD15 mutations (P=0.0001), and in pairs possessing one or two copies of the IBD5 risk haplotype (P=0.0005), with significant evidence for genetic heterogeneity and epistasis, respectively. These analyses demonstrate the complex genetic basis to Crohn's disease, and show that the discovery of disease-causing variants may be used to aid identification of further susceptibility loci in complex disease. 相似文献
10.
Schover LR; Thomas AJ; Falcone T; Attaran M; Goldberg J 《Human reproduction (Oxford, England)》1998,13(4):862-866
Many couples undergoing in-vitro fertilization (IVF) are at a higher risk
of having a child with a genetic abnormality. In a sample of 55 consecutive
couples starting IVF, only 33% had no genetic risk factor. The most common
genetic risks were advanced maternal age and possible abnormalities
associated with severe male infertility. Despite education on these risks,
71% of couples had no interest in receiving formal genetic counselling.
Only 14% of couples at risk would consider using a gamete donor to avoid
transmitting a genetic disorder to a child. The triple test to screen for
fetal abnormalities was acceptable to 82% of couples, but only 47% planned
to have amniocentesis or chorionic villi sampling. Couples were
significantly more likely to opt for prenatal testing if they would
consider terminating a pregnancy should the fetus have a severe genetic
abnormality (P < 0.01). Roman Catholic couples tended to have more
conservative attitudes about pregnancy termination. Socio-economic status
and whether the infertility factor was male or female were not predictors
of a couple's attitudes.
相似文献