Search results for "beta"

Developmental and tumoral vascularization is regulated by G protein-coupled receptor kinase 2

2012

Tumor vessel dysfunction is a pivotal event in cancer progression. Using an in vivo neovascularization model, we identified G protein–coupled receptor kinase 2 (GRK2) as a key angiogenesis regulator. An impaired angiogenic response involving immature vessels was observed in mice hemizygous for Grk2 or in animals with endothelium-specific Grk2 silencing. ECs isolated from these animals displayed intrinsic alterations in migration, TGF-β signaling, and formation of tubular networks. Remarkably, an altered pattern of vessel growth and maturation was detected in postnatal retinas from endothelium-specific Grk2 knockout animals. Mouse embryos with systemic or endothelium-selective Grk2 ablation …

Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion.

2010

Objective To investigate whether polymorphisms in estrogen receptor alpha (ERα) or beta (ERβ) genes are associated with a risk of miscarriage. Design A retrospectively analyzed, prospectively obtained database of cases and controls. Setting University hospital menopause unit. Patient(s) 177 women with at least one spontaneous abortion and 442 controls with at least one live birth and no history of miscarriage. Intervention(s) None. Main Outcome Measure(s) Genotype frequencies and odd ratios for abortion risk in cases and controls for four single nucleotide polymorphisms (SNPs) located in intron 1 (C>T and A>G), intron 4 (A>T), and exon 8 (T>C) for the ERα gene, and two SNPs located in intro…

Obstructive sleep apnea and Alzheimer’s disease-related cerebrospinal fluid biomarkers in mild cognitive impairment

2020

Abstract Previous studies have demonstrated that sleep-breathing disorders, and especially obstructive sleep apnea (OSA), can be observed in patients with a higher risk of progression to Alzheimer’s disease (AD). Recent evidence indicates that cerebrospinal fluid (CSF) AD-biomarkers are associated with OSA. In this study, we investigated these associations in a sample of patients with mild cognitive impairment (MCI), a condition that is considered the first clinical phase of AD, when patients showed biomarkers consistent with AD pathology. A total of 57 patients (mean age = 66.19; SD = 7.13) with MCI were included in the study. An overnight polysomnography recording was used to assess objec…

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…

Pharmacological Therapy in Children with Atrial Fibrillation and Atrial Flutter

2008

Heart rhythm disorders in children are not different, on electrocardiographic trace, from heart rhythm disorders in adults with the exception of incidence which is different according to the age. Paticularly, atrial flutter (FlA) and fibrillation (FA) are very uncommon arrhythmias in the general pediatric population. Generally atrial fibrillation and atrial flutter, in our experience, is a temporary heart rhythm disturbance connected to specifical and resovable reasons with the exception of Fontains surgical correction of congenital heart diseases or cardiopathies with dilatation of both atria. Presenting symptoms, symptom history (e.g., frequency, duration, and severity), risk assessment, …

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

Estrogen receptors α (ERα), ERβ and their variants may be responsible for estrogen implication in human liver carcinogenesis and tumor progression

2009

Estrogenic Modulation of Longevity by Induction of Antioxidant Enzymes

2010

In many species including humans, females live longer than males. We and others have observed that mitochondria from females of Wistar rats and of OF1 mice produce half the amount of peroxide produced by males. We attributed this to a change in the expression of antioxidant, longevity-related genes. We have found that in those species in which females live longer than males, estrogens activate longevity-related genes, particularly antioxidant ones. It should be emphasized that estrogens do not act as antioxidants because of their phenolic ring but rather they act indirectly; that is, they behave as hormones and bind to estrogen receptors, which eventually leads to the upregulation of the ex…

Sinusoidal endothelial liver cells in vitro release endothelin — Augmentation by transforming growth factorβ and Kupffer cell-conditioned media

1991

Endothelin is the most potent vasoconstrictor peptide known today. Using a radioimmunoassay for endothelin, we measured immunoreactive endothelin in culture media of guinea pig sinusoidal endothelial liver cells and human umbilical vein endothelial cells. A time-dependent release of immunoreactive endothelin by confluent sinusoidal endothelial liver cells in culture was found. Sinusoidal endothelial liver cells produced similar amounts of immunoreactive endothelin as umbilical vein endothelial cells, about 900 pg/microgram DNA per 24 h. In the presence of transforming growth factor beta a dose-dependent increase of immunoreactive endothelin release was measured. The maximal increase of 50% …

Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative…

2010

Background Oral deferiprone was suggested to be more effective than subcutaneous desferrioxamine for removing heart iron. Oral once-daily chelator deferasirox has recently been made commercially available but its long-term efficacy on cardiac iron and function has not yet been established. Our study aimed to compare the effectiveness of deferasirox, deferiprone and desferrioxamine on myocardial and liver iron concentrations and bi-ventricular function in thalassemia major patients by means of quantitative magnetic resonance imaging. Design and Methods From the first 550 thalassemia subjects enrolled in the Myocardial Iron Overload in Thalassemia network, we retrospectively selected thalasse…