Search results for "Cases"
showing 10 items of 124 documents
Deregulation of dicer and mir-155 expression in liposarcoma
2015
Liposarcoma (LPS) is the most common soft tissue sarcoma. It has been demonstrated that mir-155 was the most overexpressed miRNA in well-differentiated LPS(WDLPS)/dedifferentiated LPS (DDLPS). The aim of this study is to evaluate the involvement of Dicer, Drosha and mir-155 in development of LPS and their possible role in stratification of different histological subtypes. Dicer, Drosha and mir-155 mRNA levels were analyzed in formalin-fixed paraffin-embedded specimens from patients diagnosed with 62 LPS and compared with samples of adipose tissues of healthy donors. The experimental data were obtained using qRT-PCR comparing Dicer, Drosha and mir-155 expression levels in tumor samples versu…
XRCC5 as a Risk Gene for Alcohol Dependence : Evidence from a Genome-Wide Gene-Set-Based Analysis and Follow-up Studies in Drosophila and Humans
2015
Genetic factors play as large a role as environmental factors in the etiology of alcohol dependence. Although genome-wide association studies (GWAS) enable systematic searches for loci not hitherto implicated in the etiology of alcohol dependence, many true findings may be missed due to correction for multiple testing. The aim of the present study was to circumvent this limitation by searching for biological system-level differences, and then following up these findings in humans and animals. Gene-set based analysis of GWAS data from 1333 cases and 2168 controls identified 19 significantly associated gene-sets of which five could be replicated in an independent sample. Clustered in these ge…
Germline copy number variation in theYTHDC2gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcin…
2014
Abstract: Objective: The vast majority of pancreatic cancers occurs sporadically. The discovery of frequent variations in germline gene copy number can significantly influence the expression levels of genes that predispose to pancreatic adenocarcinoma. We prospectively investigated whether patients with sporadic pancreatic adenocarcinoma share specific gene copy number variations (CNVs) in their germline DNA. Patients and methods: DNA samples were analyzed from peripheral leukocytes from 72 patients with a diagnosis of sporadic pancreatic adenocarcinoma and from 60 controls using Affymetrix 500K array set. Multiplex ligation-dependent probe amplification (MLPA) assay was performed using a s…
Aneurysms of the coronary arteries in infants and children. A review, and report of six cases.
1977
In recent years large numbers of the so-called “mucocutaneous lymph node syndrome” or “Kawasaki's disease” have been described by Japanese workers, but instances of this disorder are only now being reported as isolated cases by European or North American physicians. The disease has, therefore, been considered to be a new entity. One of its most striking features is the development of aneurysms of the coronary arteries in infants or children, which may lead to sudden death. Aneurysms of the coronary arteries in childhood are rare, and hence it was considered relevant to report six such cases, and to examine their possible relationship to Kawasaki's disease. The pathological changes underlyin…
Transcatheter recanalisation and stenting of a closed ductus arteriosus in duct dependent lung perfusion
1998
In patients with the congenital cardiac malformation of tetralogy of Fallot, occasionally one pulmonary artery, usually the left, seems angiographically to be absent.1 This pulmonary artery is usually present, but discontinuous with the pulmonary trunk, having originally been supplied by a patent arterial duct. With closure of the duct, the receiving flow to that pulmonary artery is by small collateral vessels, which leads to reduced growth of the involved pulmonary vessels and impedes definite surgical repair. We report a case of a 2 day old, 1890 g, premature, cyanotic boy (oxygen saturation 82%) with tetralogy of Fallot, right sided aortic arch, and discontinuity between the pulmonary tr…
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
2014
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…
The NS3/4A proteinase of the hepatitis C virus: unravelling structure and function of an unusual enzyme and a prime target for antiviral therapy
1999
The hepatitis C virus (HCV) is a major causative agent of transfusion-acquired and sporadic non-A, non-B hepatitis worldwide. Infections most often persist and lead, in approximately 50% of all patients, to chronic liver disease. As is characteristic for a member of the family Flaviviridae, HCV has a plus-strand RNA genome encoding a polyprotein, which is cleaved co- and post-translationally into at least 10 different products. These cleavages are mediated, among others, by a virally encoded chymotrypsin-like serine proteinase located in the N-terminal domain of non-structural protein 3 (NS3). Activity of this enzyme requires NS4A, a 54-residue polyprotein cleavage product, to form a stable…
Candidate Targets for Hepatitis C Virus-Specific Antiviral Therapy
1997
The hepatitis C virus (HCV) was identified as the major causative agent of posttransfusion and community-acquired non-A, non-B hepatitis throughout the world. It is an enveloped virus with a plus-strand RNA genome encoding a polyprotein of about 3,010 amino acids. This polyprotein is cleaved co- and posttranslationally into mature viral proteins by host cell signal peptidases and 2 viral enzymes designated the NS2-3 proteinase and the NS3/4A proteinase complex. It is assumed that virus replication takes place in a membrane-associated complex containing at least 2 viral enzymatic activities: the NS3 nucleoside triphosphatase (NTPase)/helicase and the NS5B RNA-dependent RNA polymerase (RdRp).…
Engineering a 2D protein-DNA crystal.
2005
(Figure Presented) Weaving with DNA: A DNA-binding protein was used to control the structure of a self-assembled 2D crystal. In the absence of protein, four oligonucleotides hybridize to form a Kagome lattice of interwoven double helices with p3 symmetry (see image). Addition of protein RuvA during assembly changes the symmetry and connectivity to give a DNA-protein crystal with an approximately square unit cell. © 2005 Wiley-VCH Verlag GmbH and Co. KGaA.
Association between climate and new daily diagnoses of COVID-19
2020
AbstractBackgroundAlthough evidence is accumulating that climate conditions may positively or negatively influence the scale of coronavirus disease 2019 (COVID-19) outbreaks, uncertainty remains concerning the real impact of climate factors on viral transmission. Methods. The number of new daily cases of COVID-19 diagnosed in Verona (Italy) was retrieved from the official website of Veneto Region, while information on daily weather parameters in the same area was downloaded from IlMeteo website, a renowned Italian technological company specialized in weather forecasts. The search period ranged between March 1 to November 11, 2020. The number of new daily COVID-19 cases and meteorological da…