نتایج جستجو برای: congenital snhl
تعداد نتایج: 120665 فیلتر نتایج به سال:
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression profile of affected genes in the human fetal cochlea is limited, and as many of the gene mutations causing SNHL likely affect the stria vascul...
The most common syndromic form of hereditary SNHL, Pendred syndrome (PS) was described by Pendred in 1896. The condition is autosomal recessive, and affected individuals also have goiter. The prevalence of PS is estimated at 7.5 to 10 per 100,000 individuals, suggesting that the syndrome may account for 10% of hereditary deafness. The hearing loss is usually congenital and severe to profound, a...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Cochlear implantation (CI) is an effective procedure for treatment of children with severe to profound Sensori-neural hearing loss (SNHL). In spite of suitable outcome in many patients, choosing the candidates should be regarding to the child age and etiology (congenital o...
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifest...
treated × 6 months) were included. Whole blood VL was determined by real-time PCR at a central laboratory before therapy (baseline, BL) and periodically for 6 months. Results. In subjects treated for 6 months, increases in BL VL correlated with decreased probability of better hearing outcomes at 12 months (Figure 1), but clinically meaningful VL thresholds that predict SNHL were not identified ...
Congenital and perinatal infections with cytomegalovirus (CMV) are responsible for considerable short- and long- term morbidity in infants. CMV is the most common congenital viral infection in the developed world, and is a common cause of neurodevelopmental injury, including mental retardation and sensorineural hearing loss (SNHL). Antiviral therapy has been shown to be valuable in ameliorating...
Although an association between Lassa fever (LF) and sudden-onset sensorineural hearing loss (SNHL) was confirmed clinically in 1990, the prevalence of LF-induced SNHL in endemic countries is still underestimated. LF, a viral hemorrhagic fever disease caused by Lassa virus (LASV), is endemic in West Africa, causing an estimated 500,000 cases and 5,000 deaths per year. Sudden-onset SNHL, one com...
CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic SNHL (NS-SNHL). We screened 32 Korean adult probands with postlingual NS-SNHL sporadically or in autosomal recessive fashion using targeted panel ...
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previou...
Profound congenital sensorineural hearing loss (SNHL) is not so infrequent, affecting 1 to 2 of every 1000 newborns in western countries. Nevertheless, universal hearing screening programs have not been widely applied, although such programs are already established for metabolic diseases. The acquisition of spoken language is a time-dependent process, and some form linguistic input should be pr...
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