Search results for "CELLULAR"
showing 10 items of 6449 documents
Association of aMAOAgene variant with generalized anxiety disorder, but not with panic disorder or major depression
2001
This study was conducted to detect a possible association of a T941G single nucleotide polymorphism (SNP) in the monoamine oxidase A (MAOA) gene with generalized anxiety disorder (GAD), panic disorder (PD), or major depression (MD). Fifty GAD patients (34 females and 16 males), 38 PD patients (21 females and 17 males), and 108 MD patients (80 females and 28 males) were included. The comparison group consisted of 276 (132 females and 144 males) unrelated healthy individuals. The 941T allele was over-represented in patients suffering from GAD (chi(2) = 6.757; df = 1; P < 0.01, not corrected for multiple testing) when compared to healthy volunteers. No association was observed in MD or PD. Thi…
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
2010
PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…
Hypertension, diabetes mellitus, and insulin resistance: the role of intracellular magnesium.
1997
Magnesium is one of the most abundant ions present in living cells and its plasma concentration is remarkably constant in healthy subjects. Plasma and intracellular magnesium concentrations are tightly regulated by several factors. Among them, insulin seems to be one of the most important. In fact, in vitro and in vivo studies have demonstrated that insulin may modulate the shift of magnesium from extracellular to intracellular space. Intracellular magnesium concentration has also been shown to be effective on modulating insulin action (mainly oxidative glucose metabolism), offset calcium-related excitation-contraction coupling, and decrease smooth cell responsiveness to depolarizing stimul…
Antibody Pattern of HCV Infection and Hepatocellular Carcinoma in Italy: A Case Control Study
1994
The association of hepatitis C virus (HCV) infection with hepatocellular carcinoma (HCC) and the presence of a specific antibody pattern was assessed by means of a case-control study conducted in Italy on 65 consecutive newly diagnosed HCC cases and 99 sex- and age-matched control patients with chronic nonhepatic disease. The prevalences of antibody to HCV (anti-HCV) and hepatitis B surface antigen (HBsAg) observed were 66.2% and 24.6%, respectively. The relative risk for the association of each of the two markers with HCC, as calculated by multiple logistic analysis, was 26.9 (95% confidence intervals (CI): 9.9–72.5) for anti-HCV and 11.4 (95% CI: 3.1–41.1) for HBsAg. Thus, they constitute…
Tetrodotoxin slightly shortens action potential duration in ventricular but not in atrial heart muscle.
1988
Tetrodotoxin (TTX), at concentrations significantly decreasing maximal upstroke velocity (dV/dtmax) of the action potential, exerted variable effects on action potential duration (APD) in different myocardial preparations. APD was virtually unchanged by tetrodotoxin in the guinea pig atrium, but slightly shortened in the guinea pig ventricle at maximally effective concentrations. In the human ventricle, both dV/dtmax and APD were reduced in the same concentration range of TTX. These results suggest that a TTX-sensitive sodium current significantly contributes to the repolarization phase of the action potential in ventricular but not in atrial heart muscle.
Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia
2019
Background: Classification of phenotype severity in patients with beta-thalassaemia has so far relied mainly on expert opinion using parameters of genotype, clinical features at diagnosis, and transfusion requirement. The aim of this study was to use a large dataset of patients with beta-thalassaemia and evaluate a classification system based on onset variables agreed on by an international expert group, including age at diagnosis, at first transfusion, and at first iron chelation. Methods: A retrospective dataset of 7910 patients with homozygous or compound heterozygous beta-thalassaemia was used and subjected to cluster and classification analysis starting with the onset variables. Result…
A human hepatocellular in vitro model to investigate steatosis
2006
The present study was designed to define an experimental model of hepatocellular steatosis with a fat overaccumulation profile in which the metabolic and cytotoxic/apoptotic effects could be separated. This was accomplished by defining the experimental conditions of lipid exposure that lead to significant intracellular fat accumulation in the absence of overt cytotoxicity, therefore allowing to differentiate between cytotoxic and apoptotic effects. Palmitic (C16:0) and oleic (Cl 8: 1) acids are the most abundant fatty acids (FFAs) in liver triglycerides in both normal subjects and patients with nonalcoholic fatty liver disease (NAFLD). Therefore, human hepatocytes and HepG2 cells were incub…
Hepatocellular cancer: optimal strategies for screening and surveillance.
2009
Hepatocellular carcinoma (HCC) is a challenging malignancy of global importance and is associated with a high rate of mortality. Individuals with chronic viral hepatitis and other forms of liver disease are at risk for developing HCC. The stage of cancer dictates the therapeutic choice, making early detection a primary objective. Many observational studies have reported that HCC is diagnosed at an earlier stage in patients who received surveillance. The guidelines of the American Association for the Study of Liver Diseases suggest that surveillance should be performed using ultrasonography at an interval of every 6–12 months. This interval is based upon mainly observational data and the exp…
Imaging features of histological subtypes of hepatocellular carcinoma: Implication for LI-RADS
2021
Background & Aims The histopathological subtypes of hepatocellular carcinoma (HCC) are associated with distinct clinical features and prognoses. This study aims to report Liver Imaging Reporting and Data System (LI-RADS)-defined imaging features of different HCC subtypes in a cohort of resected tumours and to assess the influence of HCC subtypes on computed tomography (CT)/magnetic resonance imaging (MRI) LI-RADS categorisation in the subgroup of high-risk patients. Methods This retrospective institutional review board-approved study included patients with resected HCCs and available histopathological classification. Three radiologists independently reviewed preoperative CT and MRI exams. T…
Predicting survival in patients with hepatocellular carcinoma treated by transarterial chemoembolisation
2011
Aliment Pharmacol Ther 2011; 34: 196–204 Summary Background Transarterial chemoembolisation (TACE) is first-line treatment in unresectable hepatocellular carcinoma (HCC) and rescue treatment after failure of radical treatments in early stage HCC. Prognostic tools for HCC using time-fixed Cox models may be unreliable in patients treated with TACE because time-varying predictors interact. Aim To explore time-dependent variables as survival predictors in patients with HCC receiving TACE as first-line or second-line treatment. Methods Eighty four consecutive patients with HCC (mean age 68; male gender 62%; Child-Pugh class: A n = 73, B n = 11; Barcelona Clinic Liver Cancer class: A n = 44, B…