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Normal Groups (normal + groups)
Selected AbstractsThe role and frequency of glutathione s-transferase P1 polymorphism in Iranian patients affected with reflux esophagitisDISEASES OF THE ESOPHAGUS, Issue 7 2010N. Zendehdel SUMMARY Reflux esophagitis is a common complication of the gastroesophageal reflux disease. Glutathione s-transferases (GSTs) have important role in the protection of cells from the products of oxidative stress. GSTP1*B allele has a correlation with susceptibility to several diseases. In this case-control study, the role and frequency of GSTP1 polymorphism was evaluated in Iranian patients with erosive reflux esophagitis. Seventy patients with erosive reflux esophagitis and 75 normal individuals were enrolled in this study. The grade of esophagitis was determined via endoscopy. DNA was extracted from venous blood of each subject using the salting out method. GSTP1 genetic polymorphisms were detected using the polymerase chain reaction restriction fragment length polymorphism method. There was a significant difference in GSTP1 genotype frequency between patients and normal groups (P= 0.006). Also, in the patient group, the grade B of esophagitis was significantly associated with variant GSTP1 genotype (P= 0.028). The rate of throat pain symptom was higher in the no-variant group (P < 0.036). The GSTP1*B allele frequency in Iranian normal groups is similar to Orientals. Reflux esophagitis are more commonly found in variant (*B/*B and *A/*B) GSTP1 genotypes. In addition, GSTP1 polymorphism is correlated with a higher grade of esophagitis. [source] Validity of Revised Doppler Echocardiographic Algorithms and Composite Clinical and Angiographic Data in Diagnosis of Diastolic DysfunctionECHOCARDIOGRAPHY, Issue 10 2006Kofo O. Ogunyankin M.D. Background: Commonly used echocardiographic indices for grading diastolic function predicated on mitral inflow Doppler analysis have a poor diagnostic concordance and discriminatory value. Even when combined with other indices, significant overlap prevents a single group assignment for many subjects. We tested the relative validity of echocardiographic and clinical algorithms for grading diastolic function in patients undergoing cardiac catheterization. Method: Patients (n = 115), had echocardiograms immediately prior to measuring left ventricular (LV) diastolic (pre-A, mean, end-diastolic) pressures. Diastolic function was classified into the traditional four stages, and into three stages using a new classification that obviates the pseudonormal class. Summative clinical and angiographic data were used in a standardized fashion to classify each patient according to the probability for abnormal diastolic function. Measured LV diastolic pressure in each patient was compared with expected diastolic pressures based on the clinical and echocardiographic classifications. Result: The group means of the diastolic pressures were identical in patients stratified by four-stage or three-stage echocardiographic classifications, indicating that both classifications schemes are interchangeable. When severe diastolic dysfunction is diagnosed by the three-stage classification, 88% and 12%, respectively, were clinically classified as high and intermediate probability, and the mean LV pre-A pressures was >12 mmHg (P < 0.005). Conversely, the mean LV pre-A pressure in the clinical low probability or echocardiographic normal groups was <11 mmHg. Conclusion: Use of a standardized clinical algorithm to define the probability of diastolic function identifies patients with elevated LV filing pressure to the same extent as echocardiographic methods. [source] Epilepsy Patients Treated with Antiepileptic Drug Therapy Exhibit Compromised Ocular Perfusion CharacteristicsEPILEPSIA, Issue 11 2002Emma J. Roff Hilton Summary: ,Purpose: Reduced cerebral blood flow and decreased cerebral glucose metabolism have been identified in patients with epilepsy treated with antiepileptic drug (AED) therapy. The purpose of this study was to determine whether ocular haemodynamics are similarly reduced in patients with epilepsy treated with AEDs. Methods: Scanning laser Doppler flowmetry was used to measure retinal capillary microvascular flow, volume, and velocity in the temporal neuroretinal rim of 14 patients diagnosed with epilepsy (mean age, 42.0 ± 0.9 years). These values were compared with those of an age- and gender-matched normal subject group (n = 14; mean age, 41.7 ± 0.3 years). Student's unpaired two-tailed t tests were used to compare ocular blood-flow parameters between the epilepsy and normal subject groups (p < 0.05; Bonferroni corrected). Results: A significant reduction in retinal blood volume (p = 0.001), flow (p = 0.003), and velocity (p = 0.001) was observed in the epilepsy group (13.52 ± 3.75 AU, 219.14 ± 76.61 AU, and 0.77 ± 0.269 AU, respectively) compared with the normal subject group (19.02 ± 5.11 AU, 344.03 ± 93.03 AU, and 1.17 ± 0.301 AU, respectively). Overall, the percentage mean difference between the epilepsy and normal groups was 36.31% for flow, 28.92% for volume, and 34.19% for velocity. Conclusions: Patients with epilepsy exhibit reduced neuroretinal capillary blood flow, volume, and velocity compared with normal subjects. A reduction in ocular perfusion may have implications for visual function in people with epilepsy. [source] Association of tryptophan hydroxylase gene polymorphism with depression, anxiety and comorbid depression and anxiety in a population-based sample of postpartum Taiwanese womenGENES, BRAIN AND BEHAVIOR, Issue 6 2004H. S. Sun Depression and anxiety disorders often coexist clinically and both are known to have a genetic basis, but the mode of inheritance is too complicated to be determined so far. Serotonin is the biogenic amine neurotransmitter most commonly associated with depression and anxiety. Since tryptophan hydroxylase (TPH1) is the rate-limiting enzyme in serotonin biosynthesis, its role in the pathophysiology of these psychiatric diseases has been intensively studied. In this study, we examined whether polymorphism of the TPH1 gene is related to the etiology of major depression, anxiety and comorbid depression and anxiety. Five single nucleoside polymorphisms of the TPH1 gene were studied in a population-based sample of postpartum Taiwanese women consisting of 120 subjects with depression or/and anxiety and 86 matched normal controls. A significant difference (P = 0.0107) in genotype frequency for the T27224C polymorphism was found between the comorbid and normal groups, and risk analysis showed that the C allele conferred a strong protective effect (odds ratio = 0.27; 95% confident interval = 0.11,0.7). Three-allele haplotypes involving T27224C polymorphism were constructed and haplotype associations between particular haplotype combinations and various diseases identified. However, the associations were weak and the overall haplotype frequency profiles in all groups were similar. The results suggest that depression, anxiety, and comorbid depression and anxiety disorders may have related etiologies. In addition, this study suggests that the TPH1 gene might play a role in the pathogenesis of these closely related disorders. [source] The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population,,HUMAN MUTATION, Issue 5 2006Pin Yue Abstract The genetic etiology of familial hypobetalipoproteinemia (FHBL) is unclear in the majority of cases. Mutations in apolipoprotein B (APOB) are the only confirmed causes of FHBL. Recently, loss-of-function mutations of PCSK9 gene have been shown to be associated with the hypocholesterolemia phenotype. Our primary goal was to confirm that mutations in PCSK9 could be another cause of FHBL. Using the sequencing approach, we found that the c.43_44insCTG variation in PCSK9, a common in-frame insertion in both African American and Caucasian populations, is associated with the hypocholesterolemia phenotype in three FHBL families. Then we tested whether this variation could be associated with lower cholesterol levels in the general population. A total of 403 subjects from a Caucasian population, in which hypobetalipoprotein (HBL) and normal groups were classified using standard criteria, were sequenced for this variation. The allele frequency of this variation in the HBL group was 0.186, but was only 0.128 in the normal lipid group. The mean plasma low-density lipoprotein (LDL)-cholesterol level in subjects heterozygous for this variant is significantly lower than that in the normal group (p<0.01). Heterozygous subjects also had higher high-density lipoprotein (HDL)-cholesterol levels (p<0.01). In general, LDL-cholesterol concentration in individuals with PCSK9 c.43_44insCTG variation was ,10,15 mg/dL lower than that in normal individuals. We conclude that the c.43_44insCTG variant plays a role in lowering cholesterol in the general population. Hum Mutat 27(5), 460,466, 2006. Published 2006 Wiley-Liss, Inc. [source] The evolution of the galaxy red sequence in simulated clusters and groupsMONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, Issue 1 2008A. D. Romeo ABSTRACT N -body/hydrodynamical simulations of the formation and evolution of galaxy groups and clusters in a , cold dark matter (,CDM) cosmology are used in order to follow the building-up of the colour,magnitude relation in two clusters and in 12 groups. We have found that galaxies, starting from the more massive, move to the red sequence (RS) as they get aged over times and eventually set upon a ,dead sequence' (DS) once they have stopped their bulk star formation activity. Fainter galaxies keep having significant star formation out to very recent epochs and lie broader around the RS. Environment plays a role as galaxies in groups and cluster outskirts hold star formation activity longer than the central cluster regions. However, galaxies experiencing infall from the outskirts to the central parts keep star formation on until they settle on to the DS of the core galaxies. Merging contributes to mass assembly until z, 1, after which major events only involve the brightest cluster galaxies. The emerging scenario is that the evolution of the colour,magnitude properties of galaxies within the hierarchical framework is mainly driven by star formation activity during dark matter haloes assembly. Galaxies progressively quenching their star formation settle to a very sharp ,red and dead' sequence, which turns out to be universal, its slope and scatter being almost independent of the redshift (since at least z, 1.5) and environment. Differently from the DS, the operatively defined RS evolves more evidently with z, the epoch when it changes its slope being closely corresponding to that at which the passive galaxies population takes over the star-forming one: this goes from z, 1 in clusters down to 0.4 in normal groups. [source] Role of PAX2 gene polymorphisms in Henoch,Schonlein purpura nephritisNEPHROLOGY, Issue 1 2006ZHU-WEN YI SUMMARY: Objective: To investigate the distribution of polymorphisms in the PAX2 gene in children with Henoch,Schonlein purpura with and without nephritis (HSPN and HSP, respectively), with particular attention to the relationship between PAX2 gene polymorphisms and the development of kidney pathology. Methods: Genomic DNA was extracted from the peripheral leukocytes of 39 HSPN patients, 23 HSP patients without nephritis and 100 normal children, and three known single nucleotide polymorphisms (SNP), including 1410C>T, 1521A>C and 1544C>T in exon 8 and exon 9 of the PAX2 gene were studied as the candidate polymorphisms. The above two exons were amplified, the polymerase chain reaction (PCR) products were detected by denatured high-pressure liquid chromatography and direct DNA sequencing was performed for sequences with abnormal elution peaks. Results: In all samples confirmed by direct sequencing, we identified two SNP, which present as complete linkage haplotype 1410C>T + 1521A>C, in exon 8. We did not identify any SNP in exon 9. The frequency of the PAX2 heterozygous genotype 1410CT/1521AC in the HSPN group (28.20%) was significantly higher than in the HSP without HSPN group (4.35%) or in the control group (12.00%) (P < 0.05). The odds ratio (OR) values for HSPN and HSP were 6.05 and 2.62, respectively, and the 95% confidence intervals (CI) were 1.23,29.78 and 1.09,6.30, respectively. However, no differences in the frequency distribution was found between the HSP without nephritis and normal groups. Furthermore, there was no significant correlation between the polymorphism and clinical manifestation or kidney pathology in the HSPN group (P > 0.05). Conclusion: The 1410CT/1521AC PAX2 genotype does not increase susceptibility for HSP, but is likely to increase the susceptibility of kidney involvement, resulting in a HSPN diagnosis. [source] Effect-site concentration of remifentanil attenuating surgical stress index responses to intubation of the tracheaANAESTHESIA, Issue 6 2010S. Mustola Summary Surgical Stress Index has been proposed for assessment of surgical stress and analgesia. It is a numeric index based on the normalised pulse beat interval and photoplethysmographic pulse wave amplitude. We determined the effect-site concentration of remifentanil for attenuation of Surgical Stress Index responses to intubation of the trachea. Thirty ASA 1,2 patients received either deep or normal anaesthesia and then target-controlled remifentanil. Burst suppression was maintained in the deep group and state entropy at 40,60 (scale 0,91) in the normal group. Mean (SD) effect-site concentrations of remifentanil attenuating responses in 50% of patients were 2.13 (0.25) ng.ml,1 and 3.05 (0.27) ng.ml,1 in deep and normal groups, respectively (p = 0.034). From probit analysis, EC50 and EC95 of remifentanil (95% CI) were 2.34 (1.97,2.71) ng.ml,1 and 3.19 (2.69,3.69) ng.ml,1 in deep group and 3.17 (2.67,3.67) ng.ml,1 and 3.79 (3.21,4.37) ng.ml,1 in the normal group, respectively. The values from probit analysis and up-and-down method did not differ significantly. [source] | |||||||||||||