Usher Syndrome.

Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914.

The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2.

: This study aimed to explore lived experiences with working life from the perspective of people with deafblindness due to Usher syndrome type 2 (USH2). : A limited number of studies have explored working life of people with Usher syndrome. One study of individuals with USH2 showed that work active reported significantly better psychological health compared to non-working individuals.

[Possibilities to diagnose hearing impairment in children].

Hearing impairment (HI) in children with a congenital or early onset is explained by genetic and environmental factors. Genetic factors are regarded as responsible for more than half of the cases of congenital HI and environmental factors are responsible for another 14-30%, but the etiology is still unknown in 20-40% [1]. Regarding the genetic causes, 30% are considered syndrome related, whereas 70% non-syndromic.

Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective.

Purpose: The primary aim was to describe the similarities and differences among the general health, physical health, psychological health, social trust, and financial situations of people with Usher syndrome (USH) types 1, 2, and 3. A second aim was to explore whether age, gender, clinical diagnosis, visual field, visual acuity, and degree of hearing impairment were associated with the general health, physical health, psychological health, social trust, and financial situations of people with USH.

Methods: In this study, 162 people with USH living in Sweden were included, and all three types of the disease were represented.

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

Background: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness.

Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study.

: To explore life strategies in people with Usher syndrome type 2a. : There are no studies on life strategies in people with Usher syndrome. People with deafblindness are often described in terms of poor health and low quality of life, or as being vulnerable.

Health, work, social trust, and financial situation in persons with Usher syndrome type 1.

Background: Research has demonstrated that persons with Usher syndrome type 1 (USH1) have significantly poorer physical and psychological health compared to a reference group.

Purpose: To explore the relation between work, health, social trust, and financial situation in USH1 compared to a reference group.

Material: Sixty-six persons (18-65 y) from the Swedish Usher database received a questionnaire and 47 were included, 23 working and 24 non-working.

Headphone listening habits, hearing thresholds and listening levels in Swedish adolescents with severe to profound HL and adolescents with normal hearing.

Objective: Research has minimally focussed on the music listening habits and preferred sound volumes among adolescents with severe to profound congenital HL. Listening to music played at loud sound volumes and for a long duration of time could imply risks of worsening the HL. Therefore, it is important to investigate the listening habits in adolescents with HL.

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

The following information was inadvertently omitted in the original publication.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.

Headphone listening habits and hearing thresholds in swedish adolescents.

Introduction: The aim of this study was to investigate self-reported hearing and portable music listening habits, measured hearing function and music exposure levels in Swedish adolescents. The study was divided into two parts.

Materials And Methods: The first part included 280 adolescents, who were 17 years of age and focused on self-reported data on subjective hearing problems and listening habits regarding portable music players.

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p.

Hearing thresholds, tinnitus, and headphone listening habits in nine-year-old children.

Objective: Investigate hearing function and headphone listening habits in nine-year-old Swedish children.

Design: A cross-sectional study was conducted and included otoscopy, tympanometry, pure-tone audiometry, and spontaneous otoacoustic emissions (SOAE). A questionnaire was used to evaluate headphone listening habits, tinnitus, and hyperacusis.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype.

Physical functioning in older persons with dizziness: a population-based study.

Background: Dizziness is one of the most prevalent symptoms in old age and tends to increase with age.

Aims: To report physical functioning, health-related aspects and gender differences in elderly persons with and without dizziness in a population-based sample of 75-year-olds.

Methods: A cross-sectional sample of 75-year-olds from Gothenburg, Sweden (n = 675, 398 women and 277 men) was examined by means of questionnaires and functional tests.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Background: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to exhibit complex genetic interactions that can modulate the penetrance and expressivity of the phenotype.

Electrochemotherapy - Evidence for Cell-type Selectivity In Vitro.

Aim: Electrochemotherapy (ECT) is a new cancer treatment modality that uses electroporation to potentiate chemotherapeutic agents, especially bleomycin. ECT causes both a direct toxic effect and an anti-vascular effect. The aim of the present study was to investigate a possible selective effect of ECT on the survival of fibroblasts, endothelial cells (HUVEC) and two squamous cell carcinoma cell lines (CAL-27 and SCC-4).

Theory-of-mind in individuals with Alström syndrome is related to executive functions, and verbal ability.

Objective: This study focuses on cognitive prerequisites for the development of theory-of-mind (ToM), the ability to impute mental states to self and others in young adults with Alström syndrome (AS). AS is a rare and quite recently described recessively inherited ciliopathic disorder which causes progressive sensorineural hearing loss and juvenile blindness, as well as many other organ dysfunctions. Two cognitive abilities were considered; Phonological working memory (WM) and executive functions (EF), both of importance in speech development.

Aspects of learning from the perspective of people with Alström syndrome.

Purpose: The aim of the study was to explore aspects of learning, from a lifelong perspective, in individuals with Alström syndrome (AS). AS is an autosomal recessive disorder causing early blindness, progressive sensorineural hearing loss, cardiomyopathy, endocrine disorders, metabolic dysfunction, and abbreviated lifespan.

Method: Eleven individuals with AS participated.

Long-term follow-up in patients treated with curative electrochemotherapy for cancer in the oral cavity and oropharynx.

Conclusion: ECT can be a safe curative mono modality treatment, especially in tongue cancer. The future role for ECT in head and neck cancer needs to be further investigated.

Introduction: Electrochemotherapy (ECT) is a cancer treatment modality that uses electroporation to increase the intracellular accumulation of hydrophilic chemotherapeutic drugs, especially bleomycin.

Cognitive skills and reading in adults with Usher syndrome type 2.

Objective: To investigate working memory (WM), phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2).

Design: The participants performed tests of phonological processing, lexical access, WM, and reading comprehension. The design of the test situation and tests was specifically considered for use with persons with low vision in combination with hearing impairment.

Electrochemotherapy - possible benefits and limitations to its use in the head and neck region.

Conclusion: Electrochemotherapy (ECT) is an efficacious treatment. It should, however, be used with some caution in the treatment of head and neck cancer.

Objectives: To assess local tumor control, safety, survival, and functional outcome after treatment of cancer in the head and neck region with ECT.