Hearing impairment

Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents...

INTRODUCTION: Hearing loss is a global issue of hearing disability and early detection and rehabilitation of hearing loss are important for the development of speech and language skills in hearing-impaired infants. There are multiple risk factors that aid in hearing loss but some are potential factors that contribute toward hearing loss in infants. The aim of this study was to assess the burden of hearing loss and its correlation with risk factors among high-risk infants at a teaching institution in Jaipur, Rajasthan...

Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small (< 1%) epidemiological contributions. The exception is GJB2, the gene encoding connexin-26 and underlying DFNB1, which is the most frequent type of autosomal recessive non-syndromic hearing impairment (ARNSHI) in most populations (up to 40% of ARNSHI cases). DFNB1 is caused by different types of pathogenic variants in GJB2, but also by large deletions that keep the gene intact but remove an upstream regulatory element that is essential for its expression...

INTRODUCTION: Age-related hearing loss (ARHL) may affect working memory (WM), which impacts problem-solving, decision-making, language comprehension, and learning. Limited research exists on how ARHL affects WM using N-back tasks, but studying this is crucial for understanding neural markers and associated cognitive processes. Our study explores the impact of ARHL on WM using behavioral and electrophysiological measures and how it correlates with speech-in-noise scores in older individuals with ARHL...

Japanese spotted fever is an emerging rickettsiosis caused by Rickettsia japonica and is characterized by high fever, rash, and eschar formation. Other symptoms are often vague and nonspecific and include headaches, nausea, vomiting, and myalgia. We present a case of a 46-year-old woman with Japanese spotted fever, complicated by transient bilateral sensorineural hearing loss and presenting cutaneous IgM/IgG immune complex vasculitis. The patient was admitted with a history of several days of high fever, generalized skin erythema, and hearing impairment...

BACKGROUND: Stickler syndrome is a hereditary connective tissue disorder associated with ocular, orofacial, musculoskeletal, and auditory impairments. Its main clinical characteristics include retinal detachment, hearing loss, and midface underdevelopment. In clinical practice, macrocyst is rarely reported in retinal detachment cases with Stickler syndrome. CASE PRESENTATION: We report the case of a 7-year-old child who developed a rhegmatogenous retinal detachment (RRD) in the right eye, accompanied by multiple peripheral macrocysts...

The complex manifestation of diabetic hearing loss and the relative inaccessibility of the inner ear contribute to the lack of research. The present study aimed to reveal the role of Apelin-13, a critical regulator of lipid metabolism, in diabetes-induced hearing loss. Cochlear hair cells treated with high glucose (HG) were adopted as an in vitro research model, and the impacts of Apelin-13 on cellular oxidative stress, apoptosis, mitochondrial dysfunction and endoplasmic reticulum (ER) stress were determined...

BACKGROUND: Cognitive training is delivered visually and aurally. It is unknown whether self-reported sensory difficulty modifies the effects of cognitive training on cognition. METHODS: Participants ( N  = 2788) in the Advanced Cognitive Training for Independent and Vital Elderly Study were randomized to training in memory, reasoning, speed of processing, or control. Differences in the 10-year effect of cognitive training on cognition by self-reported vision and hearing difficulty were assessed using linear mixed effect models...

BACKGROUND: Brain function and neuronal activity depend on a constant supply of blood from the cerebral circulation. The cerebral venous system (CVS) contains approximately 70% of the total cerebral blood volume; similar to the cerebral arterial system, the CVS plays a prominent role in the maintenance of central nervous system (CNS) homeostasis. Impaired venous autoregulation, which can appear in forms such as cerebral venous congestion, may lead to metabolic abnormalities in the brain, causing severe cerebral functional defects and even chronic tinnitus...

OBJECTIVES: Communicating in noisy settings can be difficult due to interference and environmental noise, which can impact intelligibility for those with hearing impairments and those with normal hearing threshold. Speech intelligibility is commonly assessed in audiology through speech audiometry in quiet environments. Nevertheless, this test may not effectively assess hearing challenges in noisy environments, as total silence is rare in daily activities. A recently patented method, known as the SRT50 FAST, has been developed for conducting speech audiometry in noise...

We present a case study of a 24-year-old man who reported mild balance and walking difficulties for 2 years. He had a history of recurrent fever, skin lesions, headache, and elbow pain, but most of these events resolved spontaneously. There was no significant family history. On examination, we observed frontal bossing, sensorineural hearing loss, and gait ataxia. This case underscores the significance of identifying clinical indicators in patients with neurologic symptoms, particularly recurrent fever, to establish a precise and thorough differential diagnosis...

Background : Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser-Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the "Autosomal dominant non-syndromic hearing loss 20/26". In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present...

OBJECTIVES: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. METHODS: The cross-sectional study was conducted from January to November 2022 at the Centre for Research in Experimental and Applied Medicine laboratory of the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi, Pakistan, in collaboration with the Ear, Nose and Throat Department of Combined Military Hospital, Rawalpindi, and comprised children of eith gender aged up to 10 years who had received cochlear implant...

Melanocytes are dendritic cells localized in skin, eyes, hair follicles, ears, heart and central nervous system. They are characterized by the presence of melanosomes enriched in melanin which are responsible for skin, eye and hair pigmentation. They also have different functions in photoprotection, immunity and sound perception. Melanocyte dysfunction can cause pigmentary disorders, hearing and vision impairments or increased cancer susceptibility. This review focuses on the role of melanocytes in homeostasis and disease, before discussing their potential in regenerative medicine applications, such as for disease modeling, drug testing or therapy development using stem cell technologies, tissue engineering and extracellular vesicles...

Deafness is the prevailing sensory impairment among humans, impacting every aspect of one's existence. Half of congenital deafness cases are attributed to genetic factors. Studies have shown that Luzp2 is expressed in hair cells (HCs) and supporting cells of the inner ear, but its specific role in hearing remains unclear. To determine the importance of Luzp2 in auditory function, we generated mice deficient in Luzp2. Our results revealed that Luzp2 has predominant expression within the HCs and pillar cells...

INTRODUCTION: The objective of this study was to identify and clinically characterize patients treated in an Otoneurology Unit who experienced vestibular ototoxicity as a result of using aminoglycoside ear drops during outbreaks of superinfection in chronic otitis media. MATERIAL AND METHODS: An observational retrospective study was conducted, including patients with perforated eardrums who developed vestibular ototoxicity within the past ten years following the application of topical ear aminoglycosides in a tertiary referral center...

Despite a vast literature on how speech intelligibility is affected by hearing loss and advanced age, remarkably little is known about the perception of talker-related information in these populations. Here, we assessed the ability of listeners to detect whether a change in talker occurred while listening to and identifying sentence-length sequences of words. Participants were recruited in four groups that differed in their age (younger/older) and hearing status (normal/impaired). The task was conducted in quiet or in a background of same-sex two-talker speech babble...

OBJECTIVE: The aims of this study were to adapt the Swedish version of the International Outcome Inventory for Hearing Aids (IOI-HA) to the International Outcome Inventory for Alternative Interventions (IOI-AI) in the context of ear surgery (IOI-AIop ) and to test the psychometric properties. DESIGN: The validated Swedish questionnaire IOI-HA was adapted to the IOI-AIop by omitting the question about hearing aid use and changing the term "hearing aid" to "surgery" in the remaining items...

Hearing-impaired listeners struggle to understand speech in noise, even when using cochlear implants (CIs) or hearing aids. Successful listening in noisy environments depends on the brain's ability to organize a mixture of sound sources into distinct perceptual streams (i.e., source segregation). In normal-hearing listeners, temporal coherence of sound fluctuations across frequency channels supports this process by promoting grouping of elements belonging to a single acoustic source. We hypothesized that reduced spectral resolution-a hallmark of both electric/CI (from current spread) and acoustic (from broadened tuning) hearing with sensorineural hearing loss-degrades segregation based on temporal coherence...

INTRODUCTION: Falls are a major worldwide health problem in older people. Several physical rehabilitation programs with home-based technologies, such as the online DigiRehab platform, have been successfully delivered. The PRECISE project combines personalized training delivered through the application with an artificial intelligence-based predictive model (AI-DSS platform) for fall risk assessment. This new system, called DigiRehab, will enable early identification of significant risk factors for falling and propose an individualized physical training plan to attend to these critical areas...