Variants in this alternatively spliced region of COL11A1 have been identified to cause an autosomal recessive form of Stickler syndrome type 2 characterized by sensorineural hearing loss and eye abnormalities, but without musculoskeletal abnormalities.
Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associated with sensorineural hearing loss (SNHL).
The clinical study revealed the presence of markers of kidney damage (A3 albuminuria: 80.4%; β2-microglobulin: 78.2%), urine electrolyte anomalies (100% hypermagnesuria, 45.7% hypernatriuria, 43.5% osmotic polyuria), abnormal osteotendinous reflexes (45.7%), sensorineural hearing loss (56.5%), and damage of the tibial arteries by Doppler imaging (66.7%).
Based on the similar inflammatory and angiogenic protein profile data from cochlear duct lysates, neither inflammation nor disturbed angiogenesis, as potential pathological components in sensorineural hearing losses, seem to be involved in the pathomechanism of the presented functional and morphological changes in PACAP KO mice.
Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in <i>ATP6V0A4-</i>, <i>ATP6V1B1-</i>, and <i>FOXI1-</i>dRTA), and hereditary hemolytic anemia (in some individuals with <i>SLC4A1-</i>dRTA).
In conclusion, we show that a de novo variant in SIX1 in a patient with sensorineural hearing loss leads to cochleovestibular malformations and abnormalities of the CVN, without any other abnormalities.
Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC.
Most profound differences in FC were found between patients with prelingual (before language development, PRE) vs. postlingual onset (after language development, POST) of SNHL.
Most profound differences in FC were found between patients with prelingual (before language development, PRE) vs. postlingual onset (after language development, POST) of SNHL.
We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
<b>Results:</b> Sensorineural hearing loss in the higher frequencies is a common form of hearing loss in HIV infected individuals throughout disease progression, along with decreased otoacoustic emission (OAE) responses, increased PTA hearing thresholds and prolonged latencies for auditory brainstem responses (ABR).
<b>Results:</b> Sensorineural hearing loss in the higher frequencies is a common form of hearing loss in HIV infected individuals throughout disease progression, along with decreased otoacoustic emission (OAE) responses, increased PTA hearing thresholds and prolonged latencies for auditory brainstem responses (ABR).
Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic hearing impairment with skin problems.
The present study aimed to investigate the functions and regulation mechanism of the transmembrane protease, serine 3 (TMPRSS3), which plays an important role in sensorineural hearing loss.
These findings suggest that the amelioration of inflammation-mediated hair cell apoptosis by inhibition of Nfatc4 activation might have significant therapeutic value in preventing ototoxic drug or noise exposure-induced sensorineural hearing loss.
The closure rates of tympanic membrane perforations treated with bFGF were reported to be comparable to those following conventional tympanoplasty.For sensorineural hearing loss after blast exposure, treatment with neurotrophic factors, such as nerve growth factor (NGF) or neurotrophin-3, antioxidants, and Atoh1 induction have recently been applied, and some of them were considered for clinical application.
The closure rates of tympanic membrane perforations treated with bFGF were reported to be comparable to those following conventional tympanoplasty.For sensorineural hearing loss after blast exposure, treatment with neurotrophic factors, such as nerve growth factor (NGF) or neurotrophin-3, antioxidants, and Atoh1 induction have recently been applied, and some of them were considered for clinical application.
The closure rates of tympanic membrane perforations treated with bFGF were reported to be comparable to those following conventional tympanoplasty.For sensorineural hearing loss after blast exposure, treatment with neurotrophic factors, such as nerve growth factor (NGF) or neurotrophin-3, antioxidants, and Atoh1 induction have recently been applied, and some of them were considered for clinical application.
The closure rates of tympanic membrane perforations treated with bFGF were reported to be comparable to those following conventional tympanoplasty.For sensorineural hearing loss after blast exposure, treatment with neurotrophic factors, such as nerve growth factor (NGF) or neurotrophin-3, antioxidants, and Atoh1 induction have recently been applied, and some of them were considered for clinical application.