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showing 10 items of 178 documents
Clinical utility of plasma-based digital next-generation sequencing in patients with advance-stage lung adenocarcinomas with insufficient tumor sampl…
2019
[Background] Approximately 30% of tumor biopsies from patients with advanced-stage lung adenocarcinomas yield insufficient tissue for successful molecular subtyping. We have analyzed the clinical utility of next-generation sequencing (NGS) of cell-free circulating tumor DNA (ctDNA) in patients with inadequate tumor samples for tissue genotyping. [Patients and methods] We conducted the study in a multi-institutional prospective cohort of clinically unselected patients with advanced-stage lung adenocarcinomas with insufficient tissue for EGFR, ALK or ROS1 genotyping across 12 Spanish institutions (n = 93). ctDNA NGS was carried out by Guardant Health (Guardant360, Redwood City, CA), using a h…
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…
2015
Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
2014
Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely heterogeneous disorders such as nonsyndromic hearing loss. The present study attempts to shed light on the complexity of hearing impairment. Methods: Using one of two next-generation sequencing panels containing either 80 or 129 deafness genes, we screened 30 individuals with nonsyndromic hearing loss (from 23 unrelated families) and analyzed 9 normal-hearing controls. Results: Overall, we found an average of 3.7 variants (in 80 genes) with deleterious prediction outcome, including a number of novel variants, in individuals with nonsyndromic h…
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of …
2022
Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based o…
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
2019
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…
Dementia, neuropsychiatric symptoms, and the use of psychotropic drugs among older people who receive domiciliary care: a cross-sectional study.
2013
ABSTRACTBackground:The objective of this study was to (a) determine the prevalence of cognitive impairment, dementia, and neuropsychiatric symptoms (NPSs) among home-dwelling people, 70 years and older (70+ years), who receive domiciliary care, and (b) describe their use of psychotropic drugs. Few studies have investigated dementia among people receiving in-home care.Methods:A sample (N = 1,000) representative of people aged 70+ years receiving domiciliary care was randomly recruited for participation. A standardized interview with the participants and their next of kin were performed using well-established assessment scales. Two clinical experts independently diagnosed dementia according t…
COMPARING THE MARSHALL PLAN AND THE EUROPEAN NEXT GENERATION UE. Models and Legal Tools of International and Supernational Cooperation to Promote Eco…
2022
The article analyzes and compares the European Recovery Plan of 1948, commonly known as the Marshall Plan, for the reconstruction of Europe after the Second World War (paragraphs 2, 2.1, 2.2), and the Next Generation EU (paragraphs 3, 3.1) through the lens and methods of legal comparison and historical analysis. As the description of the law cannot ignore the historicization of the object of study, such comparison is carried out inductively, through the analysis of the legal mechanisms in their concrete attitudes and the construction of descriptive schemes of facts, having regard to the legal discipline, but also to the functional profiles and the context in which the rules are conceived. T…
Intregrating metallic wiring with three-dimensional polystyrene colloidal crystals using electron-beam lithography and three-dimensional laser lithog…
2017
We demonstrate a method to fabricate narrow, down to a few micron wide metallic leads on top of a three-dimensional colloidal crystal self-assembled from polystyrene (PS) nanospheres of diameter 260 nm, using electron-beam lithography. This fabrication is not straightforward due to the fact that PS nanospheres cannot usually survive the harsh chemical treatments required in the development and lift-off steps of electron-beam lithography. We solve this problem by increasing the chemical resistance of the PS nanospheres using an additional electron-beam irradiation step, which allows the spheres to retain their shape and their self-assembled structure, even after baking to a temperature of 16…
Resolution performance of programmable proximity aperture MeV ion beam lithography system
2007
AbstractAn ion beam lithography system for light and heavy ions has been developed at the University of Jyväskylä's Accelerator Laboratory. The system employs a programmable proximity aperture to define the beam. The proximity aperture is made up of four Ta blades with precise straight edges that cut the beam in the horizontal and vertical directions. The blade positions and dimensions are controlled by a pair of high-precision linear-motion positioners. The sample is mounted on a X-Y-Z stage capable of moving with 100 nm precision steps under computer control. The resolution performance of the system is primarily governed by the proximity aperture. Pattern edge sharpness is set by the beam…
Programmable proximity aperture lithography with MeV ion beams
2008
A novel MeV ion beam programmable proximity aperture lithography system has been constructed at the Accelerator Laboratory of the University of Jyvaskyla, Finland. This facility can be used to fabricate three dimensional microstructures in thick (<100μm) polymer resist such as polymethylmethacrylate. In this method, MeV ion beams from the 1.7 MV pelletron and K130 cyclotron accelerators are collimated to a beam spot of rectangular shape. This shape is defined by a computer-controlled aperture made of a pair of L-shaped Ta blades which are in close proximity to the sample to minimize the penumbra broadening. Here the authors report on development of the system, the controlling software, the …