This article's main contributions are twofold: 1) to demonstrate how to apply the general European Union's High-Level Expert Group's (EU HLEG) guidelines for trustworthy AI in practice for the domain of healthcare and 2) to investigate the research question of what does "trustworthy AI" mean at the time of the COVID-19 pandemic. To this end, we present the results of a post-hoc self-assessment to evaluate the trustworthiness of an AI system for predicting a multiregional score conveying the degree of lung compromise in COVID-19 patients, developed and verified by an interdisciplinary team with members from academia, public hospitals, and industry in time of pandemic. The AI system aims to help radiologists to estimate and communicate the severity of damage in a patient's lung from Chest X-rays.
View Article and Find Full Text PDFPerturbations of glycosaminoglycan metabolism lead to mucopolysaccharidoses (MPS)-lysosomal storage diseases. One type of MPS (type VI) is associated with a deficiency of arylsulfatase B (ARSB), for which we previously established a cellular model using pulmonary artery endothelial cells with a silenced gene. Here, we explored the effects of silencing the gene on the growth of human pulmonary artery smooth muscle cells in the presence of different concentrations of dermatan sulfate (DS).
View Article and Find Full Text PDFBackground: Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Pulmonary hypertension (PH) occurs in MPS VI patients and is a marker of bad prognosis. Malfunction of endothelium, which regulates vascular tonus and stimulates angiogenesis, can contribute to the occurrence of PH in MPS VI.
View Article and Find Full Text PDFThe aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients.
View Article and Find Full Text PDFBackground: The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe.
Methods: Patients (n = 49) were identified by retrieving the data from eight international centers for MPS VI.
Results: A large number of patients presented with an attenuated phenotype (33%).
Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal, autosomal recessive storage disorder caused by deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Approximately, 140 ARSB gene mutations have been identified; however, most are private mutations making genotype-phenotype correlation for most MPS VI patients difficult. The aim of this study was to describe the natural clinical course in patients homozygous for the p.
View Article and Find Full Text PDFMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an inborn error of metabolism, with incidences at birth ranging from 1 in 1.5 million to 1 in 43,000 live births. This disorder is rarely considered when evaluating patients with common populational cardiovascular diseases.
View Article and Find Full Text PDFWe present here the first literature description of a predominantly cardiac phenotype in a patient homozygous for missense mutation p.R152W in the N-acetylogalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. An adult Caucasian woman, who displayed very few symptoms up to her late thirties, was diagnosed with mucopolysaccharidosis type VI (MPS VI) after her hospitalization due to acute heart failure originating mainly from valve disease.
View Article and Find Full Text PDFThe aim of the article is to gather and summarize the published data about the incidence, course of illness, treatment possibilities and complications of cardiovascular disorders in patients with mucopolysaccharidosis type VI (MPS VI) also known as Maroteaux-Lamy syndrome. MPS VI is a lysosomal storage disorder caused by deficient activity of N-acetylogalactosamine-4-sulfatase leading to progressive intracellular accumulation of glycosaminoglycans. The relatively low birth prevalence ranging from 1 in 43,000 to 1 in 1.
View Article and Find Full Text PDFAim: This study evaluated the impact of hyperuricemia (HUR) on outcome in patients with different types of impaired renal function (IRF) and acute myocardial infarction (AMI) treated invasively.
Methods: Out of 3,593 consecutive AMI patients treated invasively, 1,015 IRF patients were selected. The IRF group consisted of patients with baseline kidney dysfunction (BKD group) and/or patients with contrast-induced nephropathy (CIN group).
The potential of two small poly-L-lysines (sPLLs), low molecular weight sPLL (LMW-L) containing 7-30 lysine residues and L18 with 18 lysine repeats, to enhance the efficiency of liposome-mediated gene transfer (GT) with cationic lipid DOCSPER [1,3-dioleoyloxy-2-(N(5)-carbamoyl-spermine)-propane] in vascular smooth muscle cells (SMCs) was investigated. Dynamic light scattering was used for determination of particle size. Confocal microscopy was applied for colocalization studies of sPLLs and plasmid DNA inside cells.
View Article and Find Full Text PDFPurpose: To compare an endovascular technique with a well established surgical approach to achieve long-term occlusions of large porcine arteries while preserving the integrity of periarterial tissue.
Methods: The femoral arteries in 11 pigs were occluded using surgical techniques on one side and blinded stent-grafts in the contralateral vessel. Feasibility, safety, primary and long-term success, and the extent of vascularization were determined over a 3-month period by conventional angiography and histological analysis.
Angiogenesis and arteriogenesis play an important role in advanced vascular occlusive diseases. Whether angiogenesis or arteriogenesis predominate depends on the preexisting collateral vessel network, the type and location of occlusion, and different developmental origin of the arteries. Angiogenesis and arteriogenesis were investigated following vascular endothelial growth factor (VEGF) treatment in different arteries important in occlusive arterial diseases using a newly developed porcine arterial occlusion model.
View Article and Find Full Text PDFPurpose: To use local gene delivery to determine any district-specific influence of vascular endothelial growth factor (VEGF(165)) on angiogenesis and arteriogenesis in arteries of distinct developmental origin.
Methods: Coronary and peripheral arteries were chronically occluded in 30 Pietrain pigs using a percutaneous approach and blinded stent-graft. DNA was delivered to the adventitia in dosages corresponding to 10% of the body weight-adapted amount used in clinical trials.
Cationic liposomes/DNA complexes are widely used vectors for delivering genes in clinical and experimental trials. Relatively low transfer efficiencies in vivo compared with viral gene transfer may be improved using local application. In addition, markedly increased transfer efficiency may be achieved in vitro and in vivo via optimization of known variables influencing liposomal transfection.
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