Various centers around the world have implemented and evaluated universal hearing screening programs as a response to the US National Institute of Health policy statement on early identification of hearing loss. Several well conducted clinical trials have been devised to examine and evaluate various factors relevant to establishing a UNHS program. This paper aims to describe some of these factors and analyze their applications and implications for a UNHS program for a developing country in the Asia-Pacific Region. Specifically, three main issues will be discussed: hospital vs community based programs, choice of technology, and choice of screening protocol.
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Heliyon
December 2024
Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDFJ Otol
July 2024
Department of Audiology, All India Institute of Speech and Hearing, Mysuru, Karnataka, India.
Purpose: The present systematic review examined imaging findings in the Auditory Neuropathy Spectrum Disorder (ANSD) population.
Methods: Electronic databases such as Pub Med, Google Scholar, J Gate, and Science Direct were used to conduct a literature search. The articles retrieved through the literature search were assessed in two stages.
Cureus
November 2024
Neurology, King's College Hospital, Dubai, ARE.
Susac's syndrome is a rare inflammatory microangiopathy characterized by the triad of retinopathy, encephalopathy, and hearing loss. The syndrome causes recurrent microinfarcts in these organs, which in turn manifests with repeated attacks of visual field loss, hearing loss and tinnitus, and various brain syndromes. These often lead to the significant accumulation of disability over time, particularly if there is a delay or failure in diagnosis.
View Article and Find Full Text PDFZhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Department of Otorhinolaryngology, the Affiliated Children Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.
View Article and Find Full Text PDFZhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.
To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.
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