Search results for "IFA"
showing 10 items of 620 documents
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain.
2014
Genome wide association studies (GWAS) has allowed the discovery of some interesting risk variants for schizophrenia (SCZ). However, this high-throughput approach presents some limitations, being the most important the necessity of highly restrictive statistical corrections as well as the loss of statistical power inherent to the use of a Single Nucleotide Polymorphism (SNP) analysis approach. These problems can be partially solved through the use of a polygenic approach. We performed a genotyping study in SCZ using 86 previously associated SNPs identified by GWAS of SCZ, bipolar disorder (BPD) and autistic spectrum disorder (ASD) patients. The sample consisted of 3063 independent cases wit…
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
2018
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…
Tuberculoid leprosy and Type 1 lepra reaction.
2008
Summary A patient is described with tuberculoid leprosy and Type 1 (lepra) reaction from Sicily a non-endemic region, who lived previously in Manila from 2000 to 2005. The skin lesions became acutely inflamed and edematous. The plaques were painless to touch or pinprick, and there was swelling of the nerves in the fibro-osseous tunnels under the surface of the skin, including both the ulnar nerve at the elbow, and the posterior tibial nerve (medial malleolus). During the course of electro-neurographic studies, conduction velocity in the motory nerves indicated a slowing-down. The diagnosis of leprosy was confirmed by residence in an endemic area for about 5 years, by simultaneous skin lesio…
Molecular epidemiology of tuberculosis in Sicily, Italy: what has changed after a decade?
2014
Background We aimed to investigate the molecular epidemiology of Mycobacterium tuberculosis complex (MTBC) isolates in the province of Palermo, Sicily, Italy, by characterizing 183 isolates identified in the years 2004-2012. A comparison with 104 MTBC strains identified in the same geographic area in the years 1994-2000 was also carried out. Methods One hundred eighty-three MTBC isolates identified in Palermo, Italy, in the years 2004-2012 were analyzed by spoligotyping and the 24 mycobacterial interspersed repetitive unit (MIRU)-variable-number tandem-repeat (VNTR) method typing. Susceptibility testing to streptomycin, isoniazid, rifampin and ethambutol was also performed. Furthermore, the…
Preliminary organizational culture scale focused on artifacts
2006
In this preliminary study, an organizational culture scale was developed to assess cultural artifacts according to Schein´s typology (1985). It includes a set of cultural artifacts to measure the extent to which an organization is more or less traditional. A total of 249 managers from a range of different companies responded to the items. Preliminary analysis yielded a one-dimensional scale with 14 items with high internal consistency and homogeneity.
Otoneurological management of petrous apex cholesterol granuloma
2009
Objective: The aim of the study is to review the management of petrous apex cholesterol granuloma. The surgical approaches for drainage or total removal and the wait and see policy were analyzed, and outcomes were evaluated. Methods: Retrospective charts of 27 patients managed for petrous apex cholesterol granuloma with a minimum follow-up of 12 months were analyzed in a quartenary skull base center. Presenting symptoms and signs were recorded, and radiologic imaging was evaluated. Management options included wait and see policy and surgery by several approaches. Results: The mean age of patients affected by the lesion was 38.8 years. The mean follow-up was 56.7 months. Patients complained …
Treatment of human brucellosis with rifampin plus minocycline
2003
In order to evaluate the efficacy and tolerability of a high intravenous dose of rifampin plus oral minocycline (administered daily for 3 weeks) for the treatment of acute brucellosis, we retrospectively reviewed the outcome of 239 consecutive patients (135 adults and 104 children) diagnosed and treated over a 17-year period in Italy. The combination used resulted in 100% response and a relapse rate lower than 2%. Fifty-two (30 adults and 22 children) (29.8%) complained of mild adverse effects including an increase in aspartate aminotransferase (>250 IU) observed in 12 cases and considered related to rifampin and in 11 cases a reversible hyperpigmentation of the tongue attributed to minocyc…
Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports
2017
Abstract Rationale: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert–Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids. Patient concerns: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (…
Small intestine bacterial overgrowth and irritable bowel syndrome-related symptoms: Experience with Rifaximin
2009
AIM: To estimate the prevalence of small intestinal bacterial overgrowth (SIBO) in our geographical area (Western Sicily, Italy) by means of an observational study, and to gather information on the use of locally active, non-absorbable antibiotics for treatment of SIBO. METHODS: Our survey included 115 patients fulfilling the Rome II criteria for diagnosis of irritable bowel syndrome (IBS); a total of 97 patients accepted to perform a breath test with lactulose (BTLact), and those who had a positive test, received Rifaximin (Normix®, Alfa Wassermann) 1200 mg/d for 7 d; 3 wk after the end of treatment, the BTLact was repeated. RESULTS: Based on the BTLact results, SIBO was present in about 5…
Influence of heart rate in the selection of the optimal reconstruction window in routine clinical multislice coronary angiography
2008
Purpose. The aim of our study was to assess the influence of heart rate on the selection of the optimal reconstruction window with 40-slice multidetector-row computed tomography (40-MDCT) coronary angiography. Materials and methods. We studied 170 patients (114 men, age 60 +/- 11.3 years) with suspected or known coronary artery disease with 40-MDCT coronary angiography. Patients [mean heart rate (HR) 62.9 +/- 9.3 bpm, range 42-94 bpm] were clustered in two groups (group A: HR <= 65 bpm; group B: HR >65 bpm). Multiphase reconstruction data sets were obtained with a retrospective electrocardiogram (ECG)-gated 40-MDCT coronary angiography scan from 0% to 95% every 5% of the R-R interval.…