Koichiro Higashi

Unique inheritance of streptomycininduced deafness

Analysis of reported families which include two or more members with streptomycin‐induced hearing loss reveals that the trait of high susceptibility of cochlea to streptomycin is transmitted primarily through females. This is not explained by ordinary Mendelian inheritance; rather it is best understood by extranuclear inheritance.

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family

Wolfram syndrome (MIM 222300) is characterized by juvenile-onset diabetes mellitus and optic atrophy. Previous linkage analyses in the United States and UK families have indicated that the gene for Wolfram syndrome (WFS) is localized on the short arm of chromosome 4. We herein confirm the linkage of the WFS locus to D4S3023 on 4p with a two-point LOD score of 3.42 in a large Japanese family with Wolfram syndrome. Multipoint linkage analysis revealed the maximum LOD score of 4.82 between D4S3023 and D4S394. We also evaluated putative health risks in carriers by multiple logistic analysis with independent variables, age, gender, and numbers of affected haplotypes and with dependent variables, such as hearing loss, diabetes mellitus, polyuria, incontinence, psychological illness, and visual acuity. The results showed that the putative disease haplotype increased a risk of hearing loss (odds ratio =35.68, 95% confidence interval =4.12–308.95) and diabetes mellitus (odds ratio =7.57, 95% confidence interval =2.03–28.23) independently. This is the first report of an increased health risk of illness in carriers, other than for psychiatric disease.

Conductive deafness in aglossia

Aglossia is a rare anomaly often accompanied with several congenital defects including varying degrees of limb deficiency, micrognathia and oral synechiae. We report on a girl with aglossia and persistent anterior buccopharyngeal membrane. Other anomalies observed on the patient were oesophageal atresia, hypoplastic epiglottis, ptosis of the left eyelid, and conductive deafness which is probably an additional symptom of this syndrome group.

Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly

A case of Coffin-Lowry syndrome is described. The child had the typical face and also soft and puffy hands with tapering fingers. His psychomotor development was retarded. Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones. It is inferred that deafness is one of the symptoms of this syndrome.

Heterogeneity of dominant high-frequency sensorineural deafness

There are several types of autosomal dominantly inherited sensorineural hearing loss (AD‐SNHL), differentiated by audiograms. It is generally accepted that there are similarities in audiograms among members of the same family with dominant deafness. It has been supposed that AD‐SNHL must be divided into several types according to their audiograms or clinical courses. Eighteen families with AD‐SNHL are dealt with in this study. By measuring the slope of audiograms and superimposing audiograms, AD high‐frequency sensorineural hearing loss can be divided into four types. The first type has the steepest audiograms, the second has somewhat less steep audiograms, the third has gently sloping audiograms, and the fourth has audiograms close to horizontal. In each type “The audiograms breed true”, i.e. the audiograms even of members of different families having the same type do not overlap within the limits of error in audiometry. These four types of dominant high‐frequency sensorineural deafness appear to be discrete clinical entities.

Supernumerary ring marker chromosome as a secondary rearrangement in a parapharyngeal lipoma with t(10;12)(q25;q15) as the primary karyotypic abnormality

Cytogenetic analysis of a large parapharyngeal lipoma, a rare tumor at this site, showed the karyotype 46,XY,t(10;12)(q25;q15)/47,XY,t(10;12)(q25;q15),+r. The primary abnormality must have been t(10;12), whereas the +r developed secondarily as an additional aberration. Although a similar translocation between chromosomes 10 and 12 has not been described previously, that the tumor had a rearrangement of the 12q13-15 region, the most frequently involved genomic region in lipogenic tumors, indicates that the tumorigenetic mechanisms are identical in parapharyngeal lipomas and lipomas of other locations. Supernumerary ring markers are not usually detected in lipomas with 12q rearrangements but are common in atypical lipomas and well-differentiated liposarcomas. The parapharyngeal lipoma we describe recurred after initial resection, and we hypothesize that the more aggressive tumor phenotype thus demonstrated may be causally related to the clonal evolution it had undergone.

The specific binding of parotin on duct cells of human parotid gland.

ZusammenfassungDie Beziehungen zwischen Parotin (Speicheldrüsenhormon) und der menschlichen Parotis wurden mit der indirekten Technik der Enzym-Antikörper-Methode untersucht. Die Ergebnisse zeigen, daß Parotin selektiv an die Zellen des Gangsystems der menschlichen Parotis gebunden ist.SummaryThe relationship between parotin and human parotid gland was investigated using indirect technique of enzyme antibody method. Normal rabbit IgG has non-specific affinity to duct cells of human parotid gland, but it was suppressed by adding bovine serum albumin. Anti-parotin rabbit IgG has no reaction products on the sections of adult human parotid gland. When the sections, initially incubated with parotin solution in PBS, were treated with anti-parotin rabbit IgG containing bovine serum albumin, and then HRPO-labeled anti-rabbit gamma globulin antibodies (swine IgG), intercalated and striated ducts excepting excretory ducts were stained with diaminobenzidine reaction, but also acinar cells did not. These results indicate that parotin is bound specifically on duct cells of human parotid gland.

The Influence of RS Viral Infection on the Development of Otitis Media with Effusion

The polymerase chain reaction was used for detection of RS viral sequences in middle ear effusion collected from children with otitis media. RS viral sequences were detected in 21 out of 34 samples tested These sample were collected during and/or the after natural outbreak of RSV infection in the community. The viral sequences were highly detectable (85.7%) in the effusions of the patients from whom the nasopharynx RSV was isolated. On the other hand, several immunoregulatory cytokines were present in the ME effusions during RSV infection and in vitro mucosal RSV infection up-regulated production of certain cytokines, paticularly those with inflammatory properties. These observations suggest that RSV is an important factor in the pathogenesis of otitis media with effusion and that exaggerated production of cytokines in association with RSV infection may lead to the development of infection-induced inflammation, and effusion.

Hearing and Vestibular Impairment in Cerebral Palsied Children

We performed pure tone audiometry, observation of nystagmus and caloric test on 51 cerebral palsied children. There were 31 spastics and 17 athetoids, the remaining two showed spastic paresis with striking tremor.1. Pure tone audiometry: 15% of spastics and 50% of athetoids represented sensory-neural hearing loss.2. Nystagmus: Gaze, positional and positioning nystagmus were observed. We found nystagmus in 39% of spastics and 56% of athetoids. One of spastics and three of athetoids had sporadic nystagmus-like eye movements, which were not directed to any fixed direction and had a large amplitude.3. Caloric test: 12 of athetoids and 28 of spastics could be examined. We found CP or DP in 18% of spastics and 17% of athetoids.

Pneumocele of the Maxillary Sinus

Pneumocele of the maxillary sinus is a rare condition in which the sinus cavity expands in any direction. Several authors attribute this disease to valve-like action of obstructed ostium of the maxillary sinus, resulting in air trapping.A 25 year old man had suffered from epiphora and dull pain on his left cheek since December 1975 and first visited our clinic on May 10, 1976.X-ray film showed hyperlucence of maxillary sinus areas of the left side, expanding of the left maxillary sinus cavity and thinning of the sinus wall. Dehiscence of bone was seen at the lateral wall of the left maxillary sinus. Ethmoid cells were also dilated significantly.Operation (Caldwell-Luc) was performed on June 2, 1976. The large maxillary sinus cavity contained nothing except air, and no communication with ethmoid cells was demonstrated. In the sinus cavity there were many balks or septums covered with thin mucous membrane. The postoperative course was uneventful.In this case pathogenesis was considered to be a transient hyperactivity of the pneumatization process of the maxilla. If obstruction of the ostium was the main genesis of this disease, there should have been mucous accummulation in the sinus cavity, and balks or septums are not likely to form under such circumstances.