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Approximately 60% of congenital pediatric hearing loss is of genetic etiology. To evaluate non-syndromic sensorineural hearing loss (NSSNHL), guidelines emphasize the use of comprehensive genetic testing (CGT) with next generation sequencing (NGS), yet these tests have limited accessibility, and potential CGT results may not be well understood. Thus, our objective was to analyze genetic testing practices and results for pediatric patients with NSSNHL.
This article was published in the following journal.
Name: International journal of pediatric otorhinolaryngology
Millions of people around the world are plagued by hearing loss. More than 50% of congenital or pre-lingual deafness is associated with genetic factors and has highly genetic heterogeneity. To date, a...
The aim of the study was to clarify differences in the prevalence and features of bony malformations in inner ear between congenital unilateral sensorineural hearing loss (USNHL) and congenital bilate...
Hereditary hearing loss is characterized by a very high genetic heterogeneity. The OTOF (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic hearing loss, and...
To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understan...
The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropri...
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main fact...
This is a phase 1/2 single dose study of FX-322 compared to placebo in male and female adults otherwise healthy with stable sensorineural hearing loss.
This is a phase 2a single and repeat dose exploratory efficacy study of intratympanic FX-322 compared to placebo in healthy male and female adults with stable sensorineural hearing loss.
Hearing loss is the most common sensory congenital disorder and this condition is diagnosable and treatable. Children that are born with hearing loss have to undergo several hearing tests ...
The primary objective of the trial is the confirmation of the efficacy of AM-111 in the recovery of severe to profound idiopathic sudden sensorineural hearing loss (ISSNHL).
Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.
A gap junction protein encoded by the Gap Junction Beta 2 or GJB2 gene. In the cochlea and epidermis, its hexamers form channels between cells that open to allow cell-to-cell diffusion of small molecules as well as recycling of potassium. Mutations in Connexin 26 are associated with congenital SENSORINEURAL HEARING LOSS.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...
Hearing, auditory perception, or audition is the ability to perceive sound by detecting vibrations, changes in the pressure of the surrounding medium through time, through an organ such as the ear. Sound may be heard through solid, liquid, or gaseous mat...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...