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Biomedical subjects

A Namba

Publications and source records attributed to A Namba.

13 recordsLinked to original sources
PubMed2001

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation. The genetic approach provides a strong tool for the diagnosis of hearing loss associated with ear anomalies.

Adolescent↗
PubMed2001

A family affected by branchio-oto syndrome with EYA1 mutations.

Branchio-oto (BO) syndrome is complicated with congenital preauricular fistulae, branchial fistulae (cysts), and hearing loss (sensorineural, conductive or mixed). As well as branchio-oto-renal (BOR) syndrome. it is known to be an autosomal dominant hereditary disorder. Since mutations in the EYA1 gene have been identified in both BO and BOR syndromes, mutation screening of this gene has been drawing attention as a genetic test to diagnose BOR/BO syndromes. In this study, we genetically investigated the presence of EYA1 mutations in a BO syndrome family in which we observed congenital preauricular fistulae, branchial fistulae (cysts) and hearing loss in four generations. Whereas there was a variety of phenotype expressions in this family, all subjects tested had a nonsense mutation (R264X) in exon 8 of the EYA1 gene. The present report adds further examples to support the usefulness of molecular genetic testing for the diagnosis of patients with BO syndrome.

Branchio-Oto-Renal Syndrome↗
PubMed2000

Prevalence of mitochondrial gene mutations among hearing impaired patients.

The frequency of three mitochondrial point mutations, 1555A-->G, 3243A-->G, and 7445A-->G, known to be associated with hearing impairment, was examined using restriction fragment length polymorphism (RFLP) analysis in two Japanese groups: (1) 319 unrelated SNHL outpatients (including 21 with aminoglycoside antibiotic injection history), and (2) 140 cochlear implantation patients (including 22 with aminoglycoside induced hearing loss). Approximately 3% of the outpatients and 10% of the cochlear implantation patients had the 1555A-->G mutation. The frequency was higher in the patients with a history of aminoglycoside injection (outpatient group 33%, cochlear implantation group 59%). One outpatient (0.314%) had the 3243A-->G mutation, but no outpatients had the 7445A-->G mutation and neither were found in the cochlear implantation group. The significance of the 1555A-->G mutation, the most prevalent mitochondrial mutation found in this study of a hearing impaired population in Japan, among subjects with specific backgrounds, such as aminoglycoside induced hearing loss, is evident.

Aminoglycosides↗
PubMed1992

New optical method for determination of antigen-antibody reaction using level-crossing technique.

Presented here is a new method of optically detecting agglutination reactions through counting the number of level-crossings of light intensity fluctuations scattered by coated carrier particles. The theory behind this technique is that the number of level-crossings decreases as the size of aggregated particles and, accordingly, the antigen concentration increases. The antigen used in this experiment is immunoglobulin E (IgE). The crossing level is fixed at the average intensity of the scattered light. The detectable range is from 17 to 1000 IU/ml under this condition. The incubation time is 15 min. The coefficient of variations (CVs) of the number of level-crossings is reasonably low, between 0.382 and 3.05% (n = 5). Through simple data processing involving comparison of the data with the crossing level and counting the number of level-crossings, it is possible to determine the antigen concentration on a real time basis.

Agglutination Tests↗
PubMed1991

Immunoassay using the depolarized and forward scattered light intensity fluctuations from latex spheres.

A new optical method is presented here for detecting immunoreaction by means of the forward and depolarized light scattering by coated carrier particles. By this approach, a short-time measurement of antigen-antibody reactions was concisely achieved. The method covered in this article is based on using double-scattered light. While light that is single-scattered by microspheres is polarized parallel to the incident light polarization, double-scattered light contains depolarized components. The normalized fractional variance in the single-scattered field is inversely proportional to the particle concentration, whereas that in the double-scattered field is inversely proportional to the square of the particle concentration. Due to this difference, the decrease of the particle concentration during the agglutination reaction is more sensitively detected through the measurement of the fractional variance in the double-scattered field. In addition, undesirable light scattered from non-aggregated microspheres is reduced by using the method summarized here. This study is based on the assumption that the particle concentration of the double-scattered field is 4.5 x 10(11) particles/cm3. The latex spheres coated with antibody molecules aggregated after adding the antigen and, as a result, the fractional variance rapidly increased before leveling off after 5-10 min. The antigens measured were alpha-fetoprotein (AFP) and immunoglobulin E (IgE).

Antigen-Antibody Reactions↗
PubMed1979

Contrast (modulation) sensitivity functions measured in patients with high refractive error with emphasis on aphakia: II. Determinations of patients.

Measurements of Constrast Sensitivity Functions (CSF) were made on normal observers made artificially highly ametropic with spectacle lenses (with high back vertex) distance in order to determine the effect of retinal image size alterations upon CSF measures. While not an exact model for high ametropia per se, this experiment served to familiarize the experimenters with problems associated with the task. Image size alterations occur normally in aphakic patients and highly myopic patients. As a clinical trial, a series of aphakic observers were tested using an interferometric acuity device. CSF measures were made with the patient's spectacle corrections in place and again with correcting contact lenses substituted. The contact lenses reduce induced image size alterations in these cases. The use of contact lenses in such measures allows differentiation between artifactual low frequency fall off in aphakia due to lens effects and possible low frequency fall-off due to other causes.

Adult↗