Search results for "script"

Differential regulation of Fas-mediated apoptosis in both thyrocyte and lymphocyte cellular compartments correlates with opposite phenotypic manifest…

2001

Several mechanisms are probably involved in determining the evolution of autoimmune thyroid disease (AITD) towards either hypothyroidism and the clinical syndrome known as Hashimoto's thyroiditis (HT) or toward hyperthyroidism and the symptoms of Graves' disease (GD). To gain further insight into such mechanisms we performed an exhaustive comparative analysis of the expression of key molecules regulating cell death (Fas, Fas ligand [FasL], Bcl-2) and apoptosis in both thyrocytes and thyroid infiltrating lymphocytes (TILs) from patients with either GD or HT. GD thyrocytes expressed less Fas/FasL than HT thyrocytes, whereas GD TILs had higher levels of Fas/FasL than HT TILs. GD thyrocytes exp…

Ten novel mutations found in Aniridia.

1998

Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…

Treatment-associated polymorphisms in protease are significantly associated with higher viral load and lower CD4 count in newly diagnosed drug-naive …

2012

Background: The effect of drug resistance transmission on disease progression in the newly infected patient is not well understood. Major drug resistance mutations severely impair viral fitness in a drug free environment, and therefore expected to revert quickly. Compensatory mutations, often already polymorphic in wild-type viruses, do not tend to revert after transmission. While compensatory mutations increase fitness during treatment, their presence may also modulate viral fitness and virulence in absence of therapy and major resistance mutations. We previously designed a modeling technique that quantifies genotypic footprints of in vivo treatment selective pressure, including both drug …

Epigenetic differences arise during the lifetime of monozygotic twins.

2005

Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall…

Clinical outcome of HBeAg-negative chronic hepatitis B in relation to virological response to lamivudine.

2004

The effect of lamivudine treatment on the outcome of patients with hepatitis B e antigen (HBeAg)-negative chronic hepatitis is unclear. In a retrospective multicenter study, we have analyzed the virological events observed during lamivudine therapy in patients with HBeAg-negative chronic hepatitis and evaluated the correlation between virological response and clinical outcomes. Among 656 patients (mean age 49.1 years) included in the database, 54% had chronic hepatitis, 30% had Child-Turcotte-Pugh (CTP) A cirrhosis, and 16% had CTP B/C cirrhosis. On therapy (median 22 months, range 1–66), a virological response was obtained in 616 patients (93.9%). The rate of maintained virological respons…

Management of ulcerative colitis in a real-life setting: An Italian multicenter, prospective, observational AIGO study

2019

Abstract Background No data are available on the variability in the clinical management of ulcerative colitis (UC) patients by Italian gastroenterologists. Therefore, improving the standards of UC care as provided by the National Welfare Clinical Path (PDTA), in accordance with the European Crohn’s and Colitis Organization (ECCO) guidelines for UC, is not easy. Aims To assess the management of UC by Italian gastroenterologists in a real-life setting taking into account its variability. Methods This prospective, cross-sectional, observational study included IBD-specialized gastroenterologists (GSIBDs) and general gastroenterologists (GGs) working in Italian public hospital units. Consecutive…

Effectiveness of the 2010–2011 seasonal influenza vaccine in preventing confirmed influenza hospitalizations in adults: A case–case comparison, case-…

2012

Highlights ► We perform a case–case comparison as an improvement of the test-negative design. ► We report IVE estimates with a low probability of bias. ► Influenza vaccination halved the risk of confirmed influenza hospitalization. ► This effect was consistent regardless of age over 60. ► The measured effect was specific for confirmed influenza hospitalizations.

Incidence of onychomycosis among psoriatic patients with nail involvement: a descriptive study

2013

Amplification of human β-glucoronidase gene for appraising the accuracy of negative SARS-CoV-2 RT-PCR results in upper respiratory tract specimens

2020

Real-time reverse transcription polymerase-chain reaction (RT-PCR) is the mainstay of Covid-19 diagnosis. False-negative RT-PCR results may hamper clinical management of patients and hinder the adoption of epidemiological measures to control the pandemic. The current study was aimed at assessing whether amplification of β-glucoronidase (GUSB) gene would help estimate the accuracy of SARS-CoV-2 RT-PCR negative results in upper respiratory tract (URT) specimens. URT specimens that tested negative by SARS-CoV-2 RT-PCR displayed higher GUSB RT-PCR cycle thresholds (CT) (P=0.070) than those testing positive (median, 30.7; range, 27.0-40.0, and median 29.7; range 25.5-36.8, respectively), this re…

Effects of baseline fitness and BMI levels on changes in physical fitness during military service.

2019

Objectives The purpose of the present study was to investigate how aerobic fitness, muscle fitness and body mass index (BMI) change in relation to their baseline levels during 6-12 months of military service. Design Retrospective longitudinal follow-up study. Methods The study group consisted of 249 279 healthy young male conscripts (age 19.1 ± 0.4 yrs.) who completed their military service between the years 2005-2015. Anthropometrics (body mass, height, BMI), aerobic fitness (12-minute running test) and muscle fitness (sit-ups, push-ups, standing long jump) were measured. Results A 12-minute running test improved by 5% (107 ± 292 m), standing long jump 1% (2.1 ± 16.2 cm), 1-min sit-ups 19%…