Search results for " multiple"
showing 10 items of 903 documents
The Italian Multiple Sclerosis Database Network (MSDN): The risk of worsening according to IFNβ exposure in multiple sclerosis
2006
We evaluated the risk of worsening according to the length of exposure to interferon beta (IFNβ)ina large cohort of 2090 multiple sclerosis patients collected by the Italian MS Database Network. Overall 44-140 patient-visits with a follow-up of 22-143 patient-years were evaluated. Forty-one per cent of patients were exposed to IFNβ for up to 2 years, 39% for 2- 4 years and 20% for more than 4 years. A Cox regression model was used to analyse two clinical outcomes: disability progression and worsening of relapse rate. The technique of propensity score was applied to reduce bias in the comparison of non-randomized groups. The risks of disability progression (HR=0.23; 95% CI: 0.17 - 0.30) and …
High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa
2006
Rodrigo Vivo, Lorena, lorovi@alumni.uv.es ; Prados Dodd, Nicolas, Nicolas.Prados@uv.es ; Gil Salom, Manuel Luis, Manuel.Gil-Salom@uv.es ; Remohi Gimenez, Jose Alejandro, J.Alejandro.Remohi@uv.es
Tumor in the Horseshoe Kidney: Clinical Implications and Review of Embryogenesis
1992
We report on 3 patients with tumor in a horseshoe kidney, 1 of whom had bilateral tumor (renal cell cancer on the right side and urothelial cancer on the left side). Tumors that arise predominantly in the bridge of a horseshoe kidney can mimic the symptoms of an intra-abdominal disease process. Besides routine diagnostic procedures, angiography is essential to plan the surgical approach, which in principle should be organ-sparing. The literature of the embryology of the horseshoe kidney was reviewed for a relationship between the abnormal renal development and the site of tumorigenesis, and for development of a key for the wide variation of blood supply. Recently reported data suggest that …
Clinical impact of broad-spectrum empirical antibiotic therapy in patients with healthcare-associated pneumonia: a multicenter interventional study
2012
Healthcare-associated pneumonia (HCAP) has been proposed as a new category of pneumonia distinct from community-acquired pneumonia (CAP). A multicenter observational study in 2008 finds that patients with HCAP have a mortality rate significantly higher than patients with CAP, and a worse outcome is associated at logistic regression analysis with a low adherence to empirical antibiotic therapy recommended by ATS/IDSA guidelines. We designed a prospective interventional study to establish whether administration of a broad-spectrum antibiotic therapy consistent with the 2005 ATS/IDSA guidelines has an effect on the clinical outcome of hospitalized patients with HCAP. All patients with HCAP pro…
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
2009
Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, neonatal feeding problems, muscular hypotonia, motor and developmental delay, small hands and feet, and truncal obesity. Conventional cytogenetic analyses, fluorescence in situ hybridization subtelomere screening, multiplex ligation-dependent probe amplification analysis of common microdeletion and microduplication syndromes, and methylation analysis of SNRPN all gave normal re…
The Neutrophil-to-Lymphocyte Ratio is Related to Disease Activity in Relapsing Remitting Multiple Sclerosis
2019
: Background: The role of the neutrophil-to-lymphocyte ratio (NLR) of peripheral blood has been investigated in relation to several autoimmune diseases. Limited studies have addressed the significance of the NLR in terms of being a marker of disease activity in multiple sclerosis (MS). Methods: This is a retrospective study in relapsing&ndash
Clinical activity after fingolimod cessation: Disease reactivation or rebound?
2018
Background and purpose There is debate as to whether the apparent rebound after fingolimod discontinuation is related to the discontinuation itself or whether it is due to the natural course of highly active multiple sclerosis (MS). Our aim was to survey the prevalence of severe reactivation and rebound after discontinuation of fingolimod in a cohort of Italian patients with MS. Methods Patients with relapsing-remitting MS who were treated with fingolimod for at least 6 months and who stopped treatment for reasons that were unrelated to inefficacy were included in the analysis. Results A total of 100 patients who had discontinued fingolimod were included in the study. Fourteen patients (14%…
Cigarette smoking affects uterine receptiveness
2006
Background Cigarette smoking has long been known to have an effect on female fertility. The existence of an ovarian factor is clear when one considers that the mean age of the menopause is lower and IVF cycle outcome is worse in heavy smokers. The hypothesis of a concomitant uterine effect is raised by indirect evidence from in vitro and in vivo studies, but as yet, no direct evidence has been gained to confirm its existence. In this work, we analyse the association between smoking habit in oocyte recipients and cycle outcome. Methods We have retrospectively analysed the outcome of all oocyte donation cycles performed in our clinic from January 2002 to June 2005 from which there was availab…
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Treatment of relapsing-remitting multiple sclerosis after 24 doses of natalizumab: evidence from an Italian spontaneous, prospective, and observation…
2014
Importance The evaluation of therapeutic choices is needed after 24 doses of natalizumab in patients with multiple sclerosis (MS). Objective To evaluate the effect of therapeutic choices on the mean annualized relapse rate and on magnetic resonance imaging MS activity after 24 doses of natalizumab in patients with relapsing-remitting MS. Design, Setting, and Participants The TY-STOP study, which recruited participants between October 22, 2010, and October 22, 2012, at 8 Italian MS centers (secondary care outpatient clinics) among 124 adult patients who demonstrated no clinical or magnetic resonance imaging MS activity after 24 doses of natalizumab. Interventions Natalizumab, no treatment, i…