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showing 10 items of 2272 documents
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
2008
Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…
Extremely High Mutation Rate of HIV-1 In Vivo.
2015
Rates of spontaneous mutation critically determine the genetic diversity and evolution of RNA viruses. Although these rates have been characterized in vitro and in cell culture models, they have seldom been determined in vivo for human viruses. Here, we use the intrapatient frequency of premature stop codons to quantify the HIV-1 genome-wide rate of spontaneous mutation in DNA sequences from peripheral blood mononuclear cells. This reveals an extremely high mutation rate of (4.1 ± 1.7) × 10−3 per base per cell, the highest reported for any biological entity. Sequencing of plasma-derived sequences yielded a mutation frequency 44 times lower, indicating that a large fraction of viral genomes …
TNFalpha, IFNgamma and IL-10 gene polymorphisms in a sample of Sicilian patients with coeliac disease.
2005
Coeliac disease is associated with DQ2 and DQ8 alleles, but other genes also confer an additional genetic risk.Defining whether the genetic profiles of interleukin-10, tumour necrosis factor alpha and interferon gamma are associated with an increased coeliac disease risk.The functionally gene polymorphisms of tumour necrosis factor alpha (-308G/A), interferon gamma (+874T/A) and interleukin-10 (-1082G/A) were typed using sequence specific primer-polymerase chain reaction in 110 Sicilian coeliac disease patients and in 220 Sicilian healthy controls.No differences in genotype frequencies of interleukin-10 polymorphisms were found between coeliac disease patients and healthy controls. A signif…
Angiotensin type 2 receptor is important in the normal development of the ureter
1999
In humans, the actions of angiotensin II are transduced through the AT1 and AT2 receptors which have recently been implicated in renal organogenesis. Polymorphisms in the human angiotensin II receptor genes have been linked to cardiovascular and nephrological disorders. In this study we evaluated 35 patients with either primary obstructive megaureter or posterior urethral valves. Each was genotyped for the A1166 AT1 polymorphism and the recently described A-1332G AT2 transition. The incidence of these genetic variants was also evaluated in normal controls without any ultrasonographic urological abnormalities. Similar to our previous findings in congenital urological abnormalities, the AT1 r…
Variants of CARD15 are associated with an aggressive clinical course of Crohn's Disease. An IG-IBD Study
2005
Three major variants of the CARD15 gene confer susceptibility to Crohn's disease (CD). Whether or not these variants correlate with specific clinical features of the disease is under evaluation.We investigated the possible association of CARD15 variants with specific clinical characteristics, including the occurrence of anti-Saccharomyces cerevisiae antibodies (ASCA) and antineutrophil cytoplasmic antibodies (ANCA), in a large cohort of inflammatory bowel disease (IBD) patients and their unaffected relatives.Three hundred and sixteen CD patients (156 with positive family history), 408 ulcerative colitis (UC) patients (206 with positive family history), 588 unaffected relatives, and 205 unre…
TheMAOA T941G polymorphism and short-term treatment response to mirtazapine and paroxetine in major depression
2006
This study investigated the possible association of the MAOA T941G gene variant with differential antidepressant response to mirtazapine and/or paroxetine in 102 patients with major depression (DSM-IV criteria) participating in a randomized double-blind controlled clinical trial. Female mirtazapine-treated patients homozygous for the T-allele had a significantly faster and better treatment response than TG/GG-patients. In males, we failed to show an association between MAOA T941G gene variant and mirtazapine response. In the paroxetine-treated group, there were no significant differences in treatment response between MAOA T941G genotype groups. Time course of response and antidepressant eff…
High-frequency oscillatory ventilation and an interventional lung assist device to treat hypoxaemia and hypercapnia
2004
A male patient accidentally aspirated paraffin oil when performing as a fire-eater. Severe acute respiratory distress syndrome ( P a 2 / F 2 ratio 10.7 kPa) developed within 24 h. Conventional pressure-controlled ventilation (PCV) with high airway pressures and low tidal volumes failed to improve oxygenation. Hypercapnia ( P a 2 12 kPa) with severe acidosis (pH<7.20) ensued. Treatment with high-frequency oscillatory ventilation (HFOV) and a higher adjusted airway pressure (35 cm H2O) improved the P a 2 / F 2 ratio within 1 h from 10.7 to 22.9 kPa, but the hypercapnia and acidosis continued. Stepwise reduction of the mean airway pressure (26 cm H2O), and oscillating frequencies (3.5 Hz), as …
Efficacy of Therapeutic Intervention in Headache Units in Patients With Frequent Headaches: The EFUNCE Study
2006
Data confirming that therapeutic intervention in headache units is superior to care received by patients in other levels of the health system are scant. This is a pilot study that includes patients seen in 4 headache units for at least 1 year, who had a headache frequency of more than 15 days per month. The results of the first 30 patients showed a significant improvement in different headache parameters and a high degree of satisfaction with the treatment received.
Helicobacter pylori Infection as a Triggering Factor of Attacks in Patients with Hereditary Angioedema
2007
Udgivelsesdato: 2007-Jun BACKGROUND: Helicobacter pylori infection is considered among the causative factors of urticaria and angioedema. Having conducted a study on 65 patients, Hungarian authors reported in 2001 that successful eradication of H. pylori is followed by a significant reduction in the number of attacks in patients with hereditary angioedema (HAE). The present study aimed to reinvestigate the relationship between H. pylori infection and the attack rate in the framework of an international collaborative study. MATERIALS AND METHODS: Within the framework of the PREHAEAT project launched by the European Union, further 152 patients were studied in seven collaborating centers, an…
On-eye optical quality of daily disposable contact lenses for different wearing times
2012
Purpose To quantify the optical quality of various daily disposable contact lenses in vivo and to ascertain its variation in terms of wearing time by means of objective non-invasive determination of wavefront patterns. Methods The crx1 adaptive-optics system was used to measure the wavefront aberrations in 15 myopic eyes before and at 2-h intervals after contact lens fitting, over a 12-h wearing period. Seven types of contact lenses having different material, water content and lens design were evaluated in this study: Dailies Total1, Dailies AquaComfort Plus, Proclear 1 Day, 1-Day Acuvue TruEye, 1-Day Acuvue moist, SofLens daily disposable and Clariti 1-Day. The aberration data were analyse…