Search results for "script"
showing 10 items of 5143 documents
Medial tunica degeneration of the ascending aortic wall is associated with specific microRNA changes in bicuspid aortic valve disease
2021
Ascending aortic diameter is not an accurate parameter for surgical indication in patients with bicuspid aortic valve (BAV). Thus, the present study aimed to identify specific microRNAs (miRNAs/miRs) and their expression levels in aortic wall aneurysm associated with BAV according to severity of medial degeneration and to elucidate the association between the tissue expression levels of the miRNAs with their expression in plasma. Aortic wall and blood specimens were obtained from 38 patients: 12 controls and 26 patients with BAV with ascending aortic aneurysm. Of the patients with BAV, 19 had cusp fusions of right and left, 5 of right and non-coronary, and 2 of left and non-coronary. Two gr…
Analysis of translocations that involve theNUP98 gene in patients with 11p15 chromosomal rearrangements
2004
The NUP98 gene has been reported to be fused with at least 15 partner genes in leukemias with 11p15 translocations. We report the results of screening of cases with cytogenetically documented rearrangements of 11p15 and the subsequent identification of involvement of NUP98 and its partner genes. We identified 49 samples from 46 hematology patients with 11p15 (including a few with 11p14) abnormalities, and using fluorescence in situ hybridization (FISH), we found that NUP98 was disrupted in 7 cases. With the use of gene-specific FISH probes, in 6 cases, we identified the partner genes, which were PRRX1 (PMX1; in 2 cases), HOXD13, RAP1GDS1, HOXC13, and TOP1. In the 3 cases for which RNA was a…
Descriptive Epidemiology of Stomach Cancer in Ragusa, Sicily, 1981–1988
1992
An epidemiologic study was carried out on 475 incident cases of gastric cancer registered by the Ragusa Cancer Registry (Sicily) between 1981 and 1988. Distribution by sex, age, subsite, year of incidence, and survival was investigated. A reduction of incidence and mortality between 1981–84 and 1985–88 was observed in both sexes, and was more evident in males than in females. Survival was not significantly different for cancers of the various subsites.
Clinical impact of GATA2 mutations in acute myeloid leukemia patients harboring CEBPA mutations: a study of the AML study group.
2016
Clinical impact of GATA2 mutations in acute myeloid leukemia patients harboring CEBPA mutations: a study of the AML study group
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
Comparison of physical activity levels in Spanish adults with chronic conditions before and during COVID-19 quarantine
2020
Abstract Background This is the first study analyzing levels of physical activity in a sample of quarantined adults with chronic conditions. The aim of this study was to compare moderate- and vigorous-intensity physical activity levels in Spanish adults with chronic conditions before and during coronavirus disease 2019 (COVID-19) quarantine. Methods A cross-sectional online survey was administered during the COVID-19 quarantine in Spain. A total of 163 participants with chronic conditions (113 females and 47 males; age range 18–64 years) completed the survey. A total of 26 chronic conditions were included. Participants self-reported average minutes/day of moderate and vigorous physical acti…
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.
2011
Background: Autoimmune polyendocrinopathycandidiasis-ectodermal-dystrophy (APECED), also known as autoimmune polyendocrine syndrome type 1 (APS-1) (OMIM 240300), is a very rare disease. Accepted criteria for diagnosis require the presence of at least 2 of 3 major clinical features: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD). Aim: We analyzed AIRE gene mutations and genotype-phenotype correlation in APECED patients originating from Sicily and in their relatives. Subjects and methods: In 4 patients, clinical evaluations, genetic analysis of AIRE, and APECED-related autoantibodies were performed. Results: Two patients carried the mutati…
Are hepatitis G virus and TT virus involved in cryptogenic chronic liver disease?
2002
Abstract Background . Hepatitis G virus can cause chronic infection in man but the role of this agent in chronic liver disease is poorly understood. Little is known about the relation of another newly discovered agent, the TT virus, with chronic liver disease. Aim . To investigate the rate of infection with hepatitis G virus and TT virus in patients with cryptogenic chronic liver disease. Patients . A total of 23 subjects with chronically raised alanine transaminase and a liver biopsy in whom all known causes of liver disease had been excluded, and 4D subjects with hepatitis C virus-related chronic liver disease. Methods . Evaluation of anti-hepatitis G virus by enzyme immunoassay. Hepatiti…
Nursing Education in Catalonia: Novice Professionals’ Appraisal of Its Quality and Usefulness. Does Mobility Play a Role?
2020
The present study aimed to examine the relationship between the quality of undergraduate education perceived by novice nurses and their retrospective satisfaction with their education. It also studied the relationships between the perceived usefulness of their education for their current jobs and the quality of the jobs held by novice nursing professionals. The moderator role of mobility in this relationship was also analyzed, as it reflects a boundary condition in which additional preparation or job opportunities may occur. The study used data from the graduates’ survey carried out by the Agència per a la Qualitat del Sistema Universitari de Catalunya (AQU) in 2017. The analysis of data fr…
Testing the flexibility of the modified receptive field (MRF) theory: evidence from an unspaced orthography (Thai).
2013
In the current study, we tested the generality of the modified receptive field (MRF) theory (Tydgat & Grainger, 2009) with English native speakers (Experiment 1) and Thai native speakers (Experiment 2). Thai has a distinctive alphabetic orthography with visually complex letters (ฝ ฟ or ผ พ) and nonlinear characteristics and lacks interword spaces. We used a two-alternative forced choice (2AFC) procedure to measure identification accuracy for all positions in a string of five characters, which consisted of Roman script letters, Thai letters, or symbols. For the English speakers, we found a similar pattern of results as in previous studies (i.e., a dissociation between letters and symbols). I…