Biomedical subjects

M Drira

Publications and source records attributed to M Drira.

23 records · Page 2Linked to original sources

PubMed1994

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NSRD2) to chromosome 11q13.5 by linkage analysis of a highly consanguineous family. A maximum lod score of 10.63 (theta = 0.018) was obtained for the microsatellite marker D11S527. Homozygosity mapping refined the localization of NSRD2 to a 6 cM interval also containing the olfactory marker protein (OMP) gene. The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. These results, and clinical data, suggest that NSRD2 is the human homologue of the mouse sh-1 gene.

Animals↗

PubMed1989

[Sideropenic dysphagia].

Ten typical cases of sideropenic dysphagia over four years reported and clinical, biological, endoscopic and radiological signs are studied. The authors stress the value of oesophagal opacification for diagnosis. The particularities of our study are the relative high frequency of the disease in Tunisia and the unusual attack in two black patients.

Adult↗

PubMed1984

Psychophysics of 12 channels implant.

A battery of psychophysic tests has been designed through a computerized command of the patient's emitter. Because of the fatigability of these implanted patients, especially in the case of deaf-mute children, and the tedious aspect of these exams only 4 tests are commonly used: the threshold level in a Békésy way, the tone decay test, the 2 channels discrimination at different intensity levels, the lowest intensity discrimination. If the electrode impedances have been per-operatively measured, these tests are useful to understand the particular phonemic discrimination difficulties of each patient.

Auditory Perception↗

PubMed1984

Results of the round window electrical stimulation in 460 cases of total deafness.

In order to avoid false and quantitatively unprecise responses the stimulating electrode must be directly placed on the round window membrane. That necessitates a transmeatal approach removing the eardrum, which is commonly achieved under local anesthesia. The positive response is subjectively easy to identify; it may be objectively registered by means of brain stem evoked responses; this registration is indispensable in case of children who need general anesthesia. This positive response signifies that some cochlear nerve fibers are still present, and therefore that the rehabilitation of the cochlear implant is possible. Among the 460 totally deaf, stimulated patients, more than 93% of them presented a positive response. The threshold level voltage value represents a statistically significant representation of the functional value of the electrode nerve interface. The features of the tone decay tests, which may be also subjectively or objectively performed, present important data which may be used to predict the clinical results that can be obtained by the cochlear implant.

Adolescent↗

PubMedDate not supplied

Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families.

Classical studies have demonstrated genetic heterogeneity for nonsyndromic autosomal recessive congenital neurosensory deafness. The first two DFNB1 and DFNB2 locations were found using two consanguineous Tunisian families respectively from north and south. We tested these loci for cosegregation with deafness in twenty four southern families with nonsyndromic presumed congenital sensorineural deafness and a pedigree structure consistent with autosomal recessive inheritance. Only in our families, did deafness cosegregate with DFNB1. Although our families are from the south, none of them showed linkage to DFNB2.

Chromosome Segregation↗