Emerging approaches for restoration of hearing and vision

2020 ◽  
Author(s):  
Sonja Kleinlogel ◽  
Christian Vogl ◽  
Marcus Jeschke ◽  
Jakob Neef ◽  
Tobias Moser
Keyword(s):  
Gene Therapy ◽  
Hearing Aids ◽  
Sensory Information ◽  
Gene Replacement ◽  
Therapeutic Approaches ◽  
Optogenetic Stimulation ◽  
Cellular Specificity ◽  
Socioeconomic Burden ◽  
Comprehensive Reference

Impairments of vision and hearing are highly prevalent conditions limiting the quality of life and presenting a major socioeconomic burden. For long, retinal and cochlear disorders have remained intractable for causal therapies, with sensory rehabilitation limited to glasses, hearing aids, and electrical cochlear or retinal implants. Recently, the application of gene therapy and optogenetics to eye and ear has generated hope for a fundamental improvement of vision and hearing restoration. To date, one gene therapy for the restoration of vision has been approved and undergoing clinical trials will broaden its application including gene replacement, genome editing, and regenerative approaches. Moreover, optogenetics, i.e. controlling the activity of cells by light, offers a more general alternative strategy. Over little more than a decade, optogenetic approaches have been developed and applied to better understand the function of biological systems, while protein engineers have identified and designed new opsin variants with desired physiological features. Considering potential clinical applications of optogenetics, the spotlight is on the sensory systems. Multiple efforts have been undertaken to restore lost or hampered function in eye and ear. Optogenetic stimulation promises to overcome fundamental shortcomings of electrical stimulation, namely poor spatial resolution and cellular specificity, and accordingly to deliver more detailed sensory information. This review aims at providing a comprehensive reference on current gene therapeutic and optogenetic research relevant to the restoration of hearing and vision. We will introduce gene-therapeutic approaches and discuss the biotechnological and optoelectronic aspects of optogenetic hearing and vision restoration.

scholarly journals Gene Therapy: A Possible Alternative to CFTR Modulators?

2021 ◽  
Vol 12 ◽  
Author(s):  
J. Mercier ◽  
M. Ruffin ◽  
H. Corvol ◽  
L. Guillot
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Gene Therapy ◽  
Life Expectancy ◽  
New Technologies ◽  
Gene Replacement ◽  
New Drugs ◽  
Cftr Protein ◽  
The 1960S

Cystic fibrosis (CF) is a rare genetic disease that affects several organs, but lung disease is the major cause of morbidity and mortality. The gene responsible for CF, the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, has been discovered in 1989. Since then, gene therapy i.e., defective gene replacement by a functional one, remained the ultimate goal but unfortunately, it has not yet been achieved. However, patients care and symptomatic treatments considerably increased CF patients’ life expectancy ranging from 5 years old in the 1960s to 40 today. In the last decade, research works on CFTR protein structure and activity led to the development of new drugs which, by readdressing CFTR to the plasma membrane (correctors) or by enhancing its transport activity (potentiators), allow, alone or in combination, an improvement of CF patients’ lung function and quality of life. While expected, it is not yet known whether taking these drugs from an early age and for years will improve the quality of life of CF patients in the long term and further increase their life expectancy. Besides, these molecules are not available (specific variants of CFTR) or accessible (national health policies) for all patients and there is still no curative treatment. Another alternative that could benefit from new technologies, such as gene therapy, is therefore still attractive, although it is not yet offered to patients. Faced with the development of new CFTR correctors and potentiators, the question arises as to whether there is still a place for gene therapy and this is discussed in this perspective.

scholarly journals Usher syndrome: clinical features, molecular genetics and advancing therapeutics

2020 ◽  
Vol 12 ◽  
pp. 251584142095219
Author(s):  
Maria Toms ◽  
Waheeda Pagarkar ◽  
Mariya Moosajee
Keyword(s):  
Hearing Loss ◽  
Cochlear Implants ◽  
Hearing Aids ◽  
Gene Editing ◽  
Usher Syndrome ◽  
Gene Replacement ◽  
Small Molecule Drugs

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have been described for several of the Usher genes. Hearing loss is managed with hearing aids and cochlear implants, which has made a significant improvement in quality of life for patients. While there is currently no available approved treatment for the RP, various therapeutic strategies are in development or in clinical trials for Usher syndrome, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs.

Particularities of tinnitus in children and adolescents

ORL ro ◽  
2016 ◽  
Vol 4 (1) ◽  
pp. 40-42
Author(s):  
Alexandra Boloș ◽  
Sebastian Cozma ◽  
Andreea Silvana Szalontay
Keyword(s):  
Quality Of Life ◽  
Young Adults ◽  
Children And Adolescents ◽  
Psychological Factors ◽  
Ambient Noise ◽  
Psychological Consequences ◽  
Therapeutic Approaches

Tinnitus is a common otologic symptom and probably the most troublesome. Tinnitus causes a number of physical and psychological consequences, that interfere with the quality of life of the patient. Many authors believe that the presence of tinnitus in children is a matter of lesser importance than in adults because it is met less frequently and would be a fleeting symptom, inoffensive for them (Graham, 1981). In addition, the prevalence of tinnitus during adolescence and even in young adults is increasing, possibly as a consequence of the increased ambient noise (Bulbul SF, Shargorodsky J). Various therapeutic approaches have generated different results, which led us to consider the role of psychological factors, hence the need to underline the particularities of this symptom in childhood.  

Comparative analysis of intelligent planning methods

2012 ◽  
Vol 9 (2) ◽  
pp. 53-57 ◽  
Author(s):  
O.V. Darintsev ◽  
A.B. Migranov
Keyword(s):  
Neural Networks ◽  
Genetic Algorithms ◽  
Fuzzy Logic ◽  
Comparative Analysis ◽  
Mobile Robots ◽  
Sensory Information ◽  
Working Environment ◽  
Planning Methods ◽  
Intelligent Planning

The main stages of solving the problem of planning movements by mobile robots in a non-stationary working environment based on neural networks, genetic algorithms and fuzzy logic are considered. The features common to the considered intellectual algorithms are singled out and their comparative analysis is carried out. Recommendations are given on the use of this or that method depending on the type of problem being solved and the requirements for the speed of the algorithm, the quality of the trajectory, the availability (volume) of sensory information, etc.

scholarly journals Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case

2020 ◽  
Vol 8 ◽  
pp. 232470962095777 ◽  
Author(s):  
Maria Elena Romero-Ibarguengoitia ◽  
Consuelo Cantú-Reyna ◽  
Dalia Gutierrez-González ◽  
Héctor Cruz-Camino ◽  
Arnulfo González-Cantú ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Variants ◽  
Therapeutic Approaches ◽  
Multisystem Disorder ◽  
Related Disorder ◽  
Dysmorphic Features ◽  
The Third ◽  
The Central Nervous System ◽  
Mexican Patient

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.

scholarly journals Evaluation of the efficacy of hearing aids in older adults: a multiparametric longitudinal study protocol

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Domenico Cuda ◽  
Sara Ghiselli ◽  
Alessandra Murri
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Speech Perception ◽  
Hearing Aids ◽  
Assessment Tools ◽  
Elderly Subjects ◽  
Single Subject ◽  
Measurement Tools ◽  
First Time

Abstract Background Prevalence of hearing loss increases with age. Its estimated prevalence is 40–50 % in people over 75 years of age. Recent studies agree that declinein hearing threshold contribute to deterioration in sociality, sensitivity, cognition, and quality of life for elderly subjects. The aim of the study presented in this paper is to verify whether or not rehabilitation using first time applied Hearing Aids (HA) in a cohort of old people with hearing impairment improves both speech perception in a noisy environment over time and the overall health-related quality of life. Methods The monocentric, prospective, repeated measurements, single-subject, clinical observational study is to recruit 100 older adults, first-time HA recipients (≥ 65 years).The evaluation protocol is designed to analyze changes in specific measurement tools a year after the first HA usage in comparison with the evaluation before HA fitting. Evaluations will consist of multiparametric details collected through self-report questionnaires completed by the recipients and a series of commonly used audiometric measures and geriatric assessment tools. The primary indicator of changes in speech perception in noise to be used is the Italian version of Oldenburg Satz (OLSA) test whereas the indicator of changes in overall quality of life will be the Assessment of Quality of Life (AQoL) and Hearing Handicap Inventory for the Elderly (HHIE) questionnaires. The Montreal Cognitive Assessment (MoCA) will help in screening the cognitive state of the subjects. Discussion The protocol is designed to make use of measurement tools that have already been applied to the hearing-impaired population in order to compare the effects of HA rehabilitation in the older adults immediately before first HA usage (Pre) and after 1 year of experience (Post). This broad approach will lead to a greater understanding of how useful hearing influences the quality of life in older individuals, and therefore improves potentials for healthy aging. The data is to be analyzed by using an intrasubject endpoint comparison. Outcomes will be described and analyzed in detail. Trial registration This research was retrospectively registered underno. NCT04333043at ClinicalTrials.gov (http://www.clinicaltrials.gov/) on the 26 March 2020. This research has been registered with the Ethics Committee of the Area Vasta Emilia Nord under number 104, date of approval 17/07/2017.

scholarly journals Impact and cost-effectiveness evaluation of a community-based rehabilitation intervention on quality of life among Chinese adults with hearing loss: study protocol for a randomized controlled trial

Trials ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xin Ye ◽  
Dawei Zhu ◽  
Siyuan Chen ◽  
Xuefeng Shi ◽  
Rui Gong ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hearing Loss ◽  
Cost Effectiveness ◽  
Treatment Group ◽  
Hearing Aids ◽  
Control Group ◽  
Chinese Adults ◽  
Community Based ◽  
The Impact

Abstract Background Hearing loss is quite prevalent and can be related to people’s quality of life. To our knowledge, there are limited studies assessing the efficacy of hearing interventions on quality of life in adults. Therefore, we aim to conduct a randomized controlled trial (RCT) to determine the impact and cost-effectiveness of community-based hearing rehabilitation on quality of life among Chinese adults with hearing loss. Methods/design In this two-arm feasibility study, participants aged 16 and above with some degree of hearing loss (n = 464) will be recruited from Linyi City, Shandong Province. They are randomly assigned to the treatment group or the control group. Those in the treatment group are prescribed with hearing aids, while those in the control group receive no intervention. Reinstruction in use of devices is provided for the treatment group during booster visits held 12 months post-randomization or unscheduled interim visits when necessary. Data are collected at baseline and the follow-up 20 months later. The primary outcome is changes in quality of life over a 20-month study period. Secondary outcomes include sub-dimensions in quality of life, physical functioning, chronic diseases, cognitive function, depression, social support, hospitalizations, falls, and healthcare costs. Finally, we will evaluate whether hearing aids intervention is cost-effective to apply in a large scale. Discussion The trial is designed to evaluate the impact and cost-effectiveness of a community-based rehabilitation intervention on quality of life among Chinese adults with hearing loss. We hope that it would help improve the well-being for Chinese adults and provide references in policy and practice for China and other countries. Trial registration Chinese Clinical Trial Registry ChiCTR1900024739. Registered on 26 July 2019.

scholarly journals Tolvaptan in Pediatric Autosomal Dominant Polycystic Kidney Disease: From Here to Where?

2021 ◽  
pp. 1-7
Author(s):  
Fei Liu ◽  
Chunyue Feng ◽  
Huijun Shen ◽  
Huaidong Fu ◽  
Jianhua Mao
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Life Assessment ◽  
Therapeutic Approaches ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Ongoing Phase

<b><i>Background:</i></b> Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, accounting for approximately 5% of all ESRD cases worldwide. As a vasopressin receptor 2 antagonist, tolvaptan is the FDA-approved therapeutic agent for ADPKD, which is only made available to a limited number of adult patients; however, its efficacy in pediatric patients has not been reported widely. <b><i>Summary:</i></b> Tolvaptan was shown to delay ADPKD progression in the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO) 3:4 study, Replicating Evidence of Preserved Renal Function: an Investigation of Tolvaptan Safety and Efficacy in ADPKD (REPRISE) trial, and other clinical studies. In addition to its effects on aquaretic adverse events and alanine aminotransferase elevation, the effect of tolvaptan on ADPKD is clear, sustained, and cumulative. While ADPKD is a progressive disease, the early intervention has been shown to be important and beneficial in hypotheses as well as in trials. The use of tolvaptan in pediatric ADPKD involves the following challenges: patient assessment, quality of life assessment, cost-effectiveness, safety, and tolerability. The ongoing, phase 3b, 2-part study (ClinicalTrials.gov identifier: NCT02964273) on the evaluation of tolvaptan in pediatric ADPKD (patients aged 12–17 years) may help obtain some insights. <b><i>Key Messages:</i></b> This review focuses on the rationality of tolvaptan use in pediatric patients with ADPKD, the associated challenges, and the suggested therapeutic approaches.

scholarly journals Online Videos as a Source of Physiotherapy Exercise Tutorials for Patients with Lumbar Disc Herniation—A Quality Assessment

2021 ◽  
Vol 18 (11) ◽  
pp. 5815
Author(s):  
Stephan Heisinger ◽  
Dominikus Huber ◽  
Michael Paul Matzner ◽  
Timothy Hasenoehrl ◽  
Stefano Palma ◽  
...  
Keyword(s):  
Lumbar Disc Herniation ◽  
Disc Herniation ◽  
Lumbar Disc ◽  
Quality Score ◽  
Global Quality ◽  
Wide Range ◽  
Youtube Videos ◽  
Socioeconomic Burden ◽  
Therapy Advice

Background: During the last few decades the prevalence of lumbar disc herniation has been increasing constantly, thereby imposing a significant socioeconomic burden. Physiotherapy plays a crucial role in both surgical and conservative treatment of lumbar disc herniation, consequently the current COVID-19 pandemic with concomitant lockdowns has led to a shortage of physiotherapeutical care. In the light of these recent events publicly available physiotherapy tutorials may be a useful tool to address this problem. Aim: The main aim of this study was to assess the quality of online physiotherapy exercise tutorials for lumbar disc herniation. Materials & Methods: With YouTube being a widely known and used platform we screened 240 of the most viewed videos. A total of 76 videos met the inclusion criteria and were statistically analyzed. The videos were assessed using Global Quality Score, DISCERN Score and JAMA benchmark criteria and in regard to their applicability. Results: They displayed a wide range of views (44,969 to 5,448,717), likes (66 to 155,079) and dislikes (6 to 2339). The videos were assessed using Global Quality Score, DISCERN Score and JAMA benchmark criteria and in regard to their applicability. Neither the number of “Views”, “Likes”, nor “Dislikes” was found to have a significant association with any of the quality measures used in this study. Conclusion: Overall quality grade was determined as “moderate”. Based on the data examined in this study, the use of YouTube videos as a source of therapy advice for lumbar spine disc herniation cannot be recommended universally.

scholarly journals Immunotherapy and Gene Therapy for Oncoviruses Infections: A Review

Viruses ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 822
Author(s):  
Nathália Alves Araújo de Almeida ◽  
Camilla Rodrigues de Almeida Ribeiro ◽  
Jéssica Vasques Raposo ◽  
Vanessa Salete de Paula
Keyword(s):  
Gene Therapy ◽  
Checkpoint Inhibitors ◽  
Gene Replacement ◽  
Gene Products ◽  
Transcription Activator ◽  
Therapeutic Gene ◽  
T Lymphotropic Virus ◽  
Barr Virus ◽  
B Virus ◽  
Epstein Barr

Immunotherapy has been shown to be highly effective in some types of cancer caused by viruses. Gene therapy involves insertion or modification of a therapeutic gene, to correct for inappropriate gene products that cause/may cause diseases. Both these types of therapy have been used as alternative ways to avoid cancers caused by oncoviruses. In this review, we summarize recent studies on immunotherapy and gene therapy including the topics of oncolytic immunotherapy, immune checkpoint inhibitors, gene replacement, antisense oligonucleotides, RNA interference, clustered regularly interspaced short palindromic repeats Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-based gene editing, transcription activator-like effector nucleases (TALENs) and custom treatment for Epstein–Barr virus, human T-lymphotropic virus 1, hepatitis B virus, human papillomavirus, hepatitis C virus, herpesvirus associated with Kaposi’s sarcoma, Merkel cell polyomavirus, and cytomegalovirus.

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