ABSTRACT
Classical studies have demonstrated genetic heterogeneity for nonsyndromic autosomal recessive congenital neurosensory deafness, with at least six loci postulated. Linkage analysis in two consanguineous Tunisian kindreds has demonstrated that one such deafness locus, DFNB1, maps near chromosome 13 markers D13S175, D13S143, and D13S115. We tested these markers for cosegregation with deafness in 18 New Zealand and 1 Australian nonconsanguineous kindreds, each of which included at least two siblings with nonsyndromic presumed congenital sensorineural deafness and that had a pedigree structure consistent with autosomal recessive inheritance. When all families were combined, a peak two-point lod score of 2.547 (theta = .1) was obtained for D13S175, 0.780 (theta = .2) for D13S143, and 0.664 (theta = .3) for D13S115. While there was no statistically significant evidence for heterogeneity at any of the three loci tested, nine families showed cosegregation of marker haplotypes with deafness. These observations suggest that the DFNB1 locus may make an important contribution to autosomal recessive neurosensory deafness in a Caucasian population. In the nine cosegregating families, phenotypic variation was observed both within sibships (in four families), which indicates that variable expressivity characterizes some genotypes at the DFNB1 locus, and between generations (in two families), which suggests allelic heterogeneity.
Subject(s)
Chromosomes, Human, Pair 13 , Deafness/genetics , Genetic Linkage , Genetics, Population , Base Sequence , Chromosome Mapping , Connexin 26 , Connexins , DNA/analysis , Genetic Markers , Humans , Lod Score , Molecular Sequence Data , Pedigree , White People/geneticsABSTRACT
Many drugs and some foods can cause or aggravate tinnitus in some patients. These substances should be identified and withdrawn. Tinnitus may be improved by the treatment of associated conditions, infections, or hearing loss with appropriate drugs--hypotensives, antibiotics, vasodilators, fluoride or thyroxine. Intravenous lignocaine can temporarily reduce or abolish tinnitus in many patients but can aggravate existing tinnitus in some and may have no effect on others. Analogy with pain of central origin suggests that the beneficial effects of lignocaine (lidocaine) may be due to its anticonvulsant action. Lignocaine is used as a test to distinguish between different mechanisms of tinnitus and to predict responses to oral anticonvulsants. Dramatic responses with lignocaine are usually associated with cochlear hearing loss and often with comparable though less marked responses to oral anticonvulsants. Patients who do not benefit from lignocaine do not respond to oral anticonvulsants. The action of anticonvulsants is often potentiated by tricyclic antidepressants. The majority of patients who respond to lignocaine can also have their tinnitus effectively masked, as predicted, on a tinnitus synthesizer. A small proportion respond to masking and not to lignocaine and a small proportion to lignocaine and not to masking. Beneficial effects of masking and anticonvulsants are cumulative. Anticonvulsants may also produce subjective improvement in clarity, improved tolerance of hearing aids and increased masking benefit when a hearing aid is worn.
Subject(s)
Tinnitus/drug therapy , Amobarbital/therapeutic use , Antidepressive Agents, Tricyclic/therapeutic use , Carbamazepine/therapeutic use , Ethanol/therapeutic use , Humans , Lidocaine/therapeutic use , Phenytoin/therapeutic use , Primidone/therapeutic use , Valproic Acid/therapeutic useABSTRACT
The effect of intravenous lignocaine upon the symptom of tinnitus has been assessed in seventy-eight patients and the results correlated with associated hearing loss. Lignocaine appears to be highly effective in suppressing tinnitus in patients with presumed damage or degeneration of the Organ of Corti and is less effective in other groups. It is postulated that tinnitus in patients with Organ of Corti damage is the result of abnormal hyperactivity in the auditory pathway following deafferentation.
Subject(s)
Lidocaine/therapeutic use , Tinnitus/drug therapy , Auditory Threshold , Deafness/therapy , Humans , Tinnitus/diagnosisABSTRACT
Impedence audiometry was used to assess the response to treatment with antibiotics of children with secretory otitis media. Only ears with pressure at maximum compliance of less than --150mm water were included. There was a significant improvement with Bactrim, ampicillin and Vibramycin. There was no change without treatment and deterioration with penicillin.