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showing 10 items of 7541 documents
Deaf readers benefit from lexical feedback during orthographic processing
2019
Published: 23 August 2019 It has been proposed that poor reading abilities in deaf readers might be related to weak connections between the orthographic and lexical-semantic levels of processing. Here we used event related potentials (ERPs), known for their excellent time resolution, to examine whether lexical feedback modulates early orthographic processing. Twenty congenitally deaf readers made lexical decisions to target words and pseudowords. Each of those target stimuli could be preceded by a briefly presented matched-case or mismatched-case identity prime (e.g., ALTAR-ALTAR vs. altar- ALTAR). Results showed an early effect of case overlap at the N/P150 for all targets. Critically, thi…
Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation
2020
Background Hereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with a genetic deficiency of functional C1 inhibitor or with normal C1 inhibitor (HAEnCI). In families with HAEnCI, HAE-linked mutations in the F12, PLG, KNG1, ANGPT1, or MYOF genes have been identified. In many families with HAEnCI the genetic cause of the disease is currently unknown. Objective The aim of this study was to identify a novel disease-linked mutation for HAEnCI. Methods The study methods comprised whole exome sequencing, Sanger sequencing analysis, pedigree analysis, bioinformatic analysis of the mutation, and biochemical analysis of p…
On-Capillary Surface-Enhanced Raman Spectroscopy: Determination of Glutathione in Whole Blood Microsamples.
2018
Oxidative stress monitoring in the neonatal period supports early outcome prediction and treatment. Glutathione (GSH) is the most abundant antioxidant in most cells and tissues, including whole blood, and its usefulness as a biomarker has been known for decades. To date, the available methods for GSH determination require laborious sample processing and the use of sophisticated laboratory equipment. To the best of our knowledge, no tools suitable for point-of-care (POC) sensing have been reported. Surface-enhanced Raman spectroscopy (SERS), performed in a microvolume capillary measurement cell, is proposed in this study as a robust approach for the quantification of GSH in human whole blood…
Ultrasonographic Detection of Vascularity of Focal Breast Lesions: Microvascular Imaging Versus Conventional Color and Power Doppler Imaging.
2021
To compare microvascular flow imaging (MVFI) to conventional Color-Doppler (CDI) and Power-Doppler (PDI) imaging in the detection of vascularity of Focal Breast Lesions (FBLs). A total of 180 solid FBLs (size: 3.5–45.2 mm) detected in 180 women (age: 21–87 years) were evaluated by means of CDI, PDI, and MVFI. Two blinded reviewers categorized lesion vascularity in absent or present, and vascularity pattern as (a) internal; (b) vessels in rim; (c) combined. The presence of a “penetrating vessel” was assessed separately. Differences in vascularization patterns (chi2 test) and intra- and inter-observer agreement (Fleiss method) were calculated. ROC analysis was performed to assess performance…
Role of APOBEC3H in the Viral Control of HIV Elite Controller Patients
2017
Background APOBEC3H (A3H) gene presents variation at 2 positions (rs139297 and rs79323350) leading to a non-functional protein. So far, there is no information on the role played by A3H in spontaneous control of HIV. The aim of this study was to evaluate the A3H polymorphisms distribution in a well-characterized group of Elite Controller (EC) subjects. Methods We analyzed the genotype distribution of two different SNPs (rs139297 and rs79323350) of A3H in 30 EC patients and compared with 11 non-controller (NC) HIV patients. Genotyping was performed by PCR, cloning and Sanger sequencing. Both polymorphisms were analyzed jointly in order to adequately attribute the active or inactive status of…
Isocortical Pathology in Type C Niemann-Pick Disease
1983
A case of Niemann-Pick disease was examined with Golgi preparations and a transparent Golgi impregnation counterstained for intraneuronal pigment deposits. There was a specific type of storage of unmetabolized substrate restricted to certain nerve cell types. The most conspicuous changes in the isocortex were: 1) dilated axonal segments in layer IIIab pyramidal cells filled with storage material; the volume of these axonal expansions often exceeded that of the soma; 2) distension of layer IIIc, layer V, and layer VIa pyramidal cell perikarya with storage material; 3) new formation, elongation, and vertical orientation of basal dendrites in layer V pyramidal cells; 4) well-preserved pyramida…
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
2016
Background Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Objective The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. Methods We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism. We sequenced 11 samples of patients with severe HTG (TG>885 mg/dL–10 mmol/L): 4 positive controls in whom pathogenic mutations had pre…
Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation
2015
Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…
Hereditary angioedema with a mutation in the plasminogen gene
2017
Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…