Search results for "Diseases."
showing 10 items of 20181 documents
Editorial: Thymic Epithelial Cells: New Insights Into the Essential Driving Force of T-Cell Differentiation.
2021
Variants of human CLDN9 cause mild to profound hearing loss
2021
Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous c.370_372dupATC;p.(Ile124dup) CLDN9 variant in an affected individual of a second family. Claudin 9 (CLDN9) is an integral membrane protein and constituent of epithelial bicellular tight junctions that form semi-permeable, paracellular barriers between inner ear perilymphatic and endolymphatic compartment…
Development of polypeptide-based therapeutics for topical delivery
2019
Topical administration represents the main route to attain local therapeutic activity of bioactive agents in several organs, such as the skin or the heart by means of devices that enhance drug transport through the endothelium acting as a reservoir. The complex structure of the skin protects the human body against potentially harmful external agents; however, this protective mechanism inhibits the penetration of topically administering bioactive agents employed for the treatment of skin diseases. Unfortunately, many of the topical drugs currently used or under evaluation in clinical trials lack the appropriate physico-chemical characteristics required for delivery through the skin. However,…
Single-cell analysis of population context advances RNAi screening at multiple levels
2012
Isogenic cells in culture show strong variability, which arises from dynamic adaptations to the microenvironment of individual cells. Here we study the influence of the cell population context, which determines a single cell's microenvironment, in image‐based RNAi screens. We developed a comprehensive computational approach that employs Bayesian and multivariate methods at the single‐cell level. We applied these methods to 45 RNA interference screens of various sizes, including 7 druggable genome and 2 genome‐wide screens, analysing 17 different mammalian virus infections and four related cell physiological processes. Analysing cell‐based screens at this depth reveals widespread RNAi‐induce…
Burnout syndrome assessment among Spanish oral surgery consultants: A two populations comparative pilot study.
2021
Background The professional Burnout Syndrome (BOS) or Burnout is considered a professional disease made up of three interrelated dimensions (emotional exhaustion, depersonalization and lack of personal fulfillment). BOS has been documented to most severely affect the healthcare professions, especially dentists. On the other hand, its appearance has been documented at an early age, during dental training. However, there are no studies that analyze its incidence in professionals dedicated to Oral Surgery and Implantology, determining the age of onset and related factors. Material and Methods The modified Maslach questionnaire was carried out anonymously among the professors and students of th…
Efectos del Sorafenib, un inhibidor tirosina quinasa, en el control del tono vascular.
2018
El carcinoma hepatocelular o hepatocarcinoma (HCC) es uno de los tumores sólidos vasculares más conocidos, representa uno de los mayores problemas de salud en todo el mundo, siendo una de las enfermedades más comunes del hígado (70-85%) y una de las mayores causas de mortalidad relacionadas con el cáncer, siendo la tercera causa más común de muerte por cáncer Varias rutas carcinogénicas se han identificado en el desarrollo y progresión del HCC, proporcionando nuevas dianas moleculares para el tratamiento del HCC. Algunos fármacos que afectan a estas rutas incluyen, entre otros, el receptor del factor de crecimiento endotelial vascular (VEGFR). El sorafenib es un fármaco sistémico aprobado p…
Improving the Effect of Transcranial Alternating Current Stimulation (tACS): A Systematic Review
2021
With the development of electrical stimulation technology, traditional transcranial alternating current stimulation (tACS) technology has been found to have the drawback of not targeting a specific area accurately. Studies have shown that optimizing the number and position of electrodes during electrical stimulation has a very good effect on enhancing brain stimulation accuracy. At present, an increasing number of laboratories have begun to optimize tACS. However, there has been no study summarizing the optimization methods of tACS. Determining whether different optimization methods are effective and the optimization approach could provide information that could guide future tACS research. …
Double copies of blaKPC-3::Tn4401a on an IncX3 plasmid in Klebsiella pneumoniae successful clone ST512 from Italy
2015
ABSTRACT A carbapenem-resistant sequence type 512 (ST512) Klebsiella pneumoniae carbapenemase 3 (KPC-3)-producing K. pneumoniae strain showing a novel variant plasmid content was isolated in Palermo, Italy, in 2014. ST512 is a worldwide successful clone associated with the spread of bla KPC genes located on the IncFIIk pKpQIL plasmid. In our ST512 strain, the bla KPC-3 gene was unusually located on an IncX3 plasmid, whose complete sequence was determined. Two copies of bla KPC-3 ::Tn 4401a caused by intramolecular transposition events were detected in the plasmid.
Diagnosis and prognosis of cardiovascular diseases by means of texture analysis in magnetic resonance imaging
2017
Cardiovascular diseases constitute the leading global cause of morbidity and mortality. Magnetic resonance imaging (MRI) has become the gold standard technique for the assessment of patients with myocardial infarction. However, limitations still exist thus new alternatives are open to investigation. Texture analysis is a technique that aims to quantify the texture of the images that are not always perceptible by the human eye. It has been successfully applied in medical imaging but applications to cardiac MRI (CMR) are still scarce. Therefore, the purpose of this thesis was to apply texture analysis in conventional CMR images for the assessment of patients with myocardial infarction, as an …
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial
2022
Background and purpose: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options. RNS60 is an immunomodulatory and neuroprotective investigational product that has shown efficacy in animal models of ALS and other neurodegenerative diseases. Its administration has been safe and well tolerated in ALS subjects in previous early phase trials. Methods: This was a phase II, multicentre, randomized, double-blind, placebo-controlled, parallel-group trial. Participants diagnosed with definite, probable or probable laboratory-supported ALS were assigned to receive RNS60 or placebo administered for 24 weeks intravenously (375 ml) once a week and via nebul…