Search results for " Sensor"
showing 10 items of 1714 documents
Soft X-Ray Tomography Reveals Gradual Chromatin Compaction and Reorganization during Neurogenesis In Vivo
2016
Summary - The realization that nuclear distribution of DNA, RNA, and proteins differs between cell types and developmental stages suggests that nuclear organization serves regulatory functions. Understanding the logic of nuclear architecture and how it contributes to differentiation and cell fate commitment remains challenging. Here, we use soft X-ray tomography (SXT) to image chromatin organization, distribution, and biophysical properties during neurogenesis in vivo. Our analyses reveal that chromatin with similar biophysical properties forms an elaborate connected network throughout the entire nucleus. Although this interconnectivity is present in every developmental stage, differentiati…
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
2020
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogen…
Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…
2020
Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
2018
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In co…
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
2016
Objective PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. It also provides detailed audiometric and ophthalmologic data excluding Usher syndrome in both the present proband (proband 1) and the…
Usherin defects lead to early-onset retinal dysfunction in zebrafish
2018
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2a(rmc1): c.2337_2342delinsAC; p.Cys780GlnfsTer32 and ush2a(b1245): c.15520_…
Temperature changes in 2% chlorhexidine gluconate using two activation methods with different intensity levels
2018
Background Chlorhexidine is an irrigant solution widely used in root canal treatment because of its good antimicrobial properties. However, its mixture with sodium hypochlorite results in the appearance of substance called p-chloroaniline, a cytotoxic substance. This is also found when chlorhexidine is heated. The use of passive ultrasonic irrigation is related to an irrigant thermal increase, which can cause the appearance of p-chloroaniline. Thus, the objective is to establish the influence of ultrasonic and sonic activation, with the use of different intensities, upon the temperature of chlorhexidine gluconate (CHX). Material and methods The following groups were established: control (wi…
Odor-induced electrical and calcium signals from olfactory sensory neurons in situ
2018
Electrophysiological recording and optical imaging enable the characterization of membrane and odorant response properties of olfactory sensory neurons (OSNs) in the nasal neuroepithelium. Here we describe a method to record the responses of mammalian OSNs to odorant stimulations in an ex vivo preparation of intact olfactory epithelium. The responses of individual OSNs with defined odorant receptor types can be monitored via patch-clamp recording or calcium imaging.
Continuous Apical Negative-Pressure Ultrasonic Irrigation (CANUI) : a new concept for activating irrigants
2017
Background: Irrigation of the root canal system is an essential step in the endodontic treatment. The aim of this article is to introduce continuous apical negative-pressure ultrasonic irrigation (CANUI), a new irrigation concept, and compare the characteristics of this new technique with current devices for activating the irrigant. Material and Methods: CANUI is designed for cleaning and disinfecting the root canal system. The device consists of a tube inside another tube that allows the continuous ultrasonic exchange of fresh irrigant, as the irrigant is simultaneously aspirated apically. The coronal and apical tubes are 0.75 and 0.3 mm in diameter, respectively. It is composed of a nicke…
A Single-sensor High-resolution Panoramic Optical Mapping Configuration for Simultaneous Non-overlapped Complete Atrial and Ventricular Parametric Im…
2017
Nowadays optical mapping (OM) is the primary method for imaging electrophysiologically relevant parameters from the outer surface of Langendorff-perfused hearts. This technique has become essential for comprehensively understanding mechanisms of cardiac propagation during physiological activation, arrhythmia, and therapeutic antiarrhythmic interventions in translational hearts. Panoramic whole heart optical mapping systems, using either multiple cameras, plane mirrors or a combination of both, have been developed to overcome intrinsic visualization limitations to traditional single-sensor designs. However current panoramic OM systems are financially challenging for physiology and engineerin…