Chieri Hayashi

Vestibular function of patients with profound deafness related to GJB2 mutation

Abstract Conclusion: GJB2 mutations are responsible not only for deafness but also for the occurrence of vestibular dysfunction. However, vestibular dysfunction tends to be unilateral and less severe in comparison with that of bilateral deafness. Objectives: The correlation between the cochlear and vestibular end-organs suggests that some children with congenital deafness may have vestibular impairments. On the other hand, GJB2 gene mutations are the most common cause of nonsyndromic deafness. The vestibular function of patients with congenital deafness (CD), which is related to GJB2 gene mutation, remains to be elucidated. The purpose of this study was to analyze the relationship between GJB2 gene mutation and vestibular dysfunction in adults with CD. Methods: A total of 31 subjects, including 10 healthy volunteers and 21 patients with CD, were enrolled in the study. A hearing test and genetic analysis were performed. The vestibular evoked myogenic potentials (VEMPs) were measured and a caloric test was performed to assess the vestibular function. The percentage of vestibular dysfunction was then statistically analyzed. Results: The hearing level of all CD patients demonstrated a severe to profound impairment. In seven CD patients, their hearing impairment was related to GJB2 mutation. Five of the seven patients with CD related to GJB2 mutation demonstrated abnormalities in one or both of the two tests. The percentage of vestibular dysfunction of the patients with CD related to GJB2 mutation was statistically higher than in patients with CD unrelated to GJB2 mutation and in healthy controls.

Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children

OBJECTIVE GJB2 (gap junction protein, beta 2, 26kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of autosomal recessive non-syndromic deafness. Point and deletion mutations in GJB2 are the most frequent cause of non-syndromic deafness across racial groups. To clarify the relation between profound non-syndromic deafness and GJB2 mutation in Japanese children, we performed genetic testing for GJB2. METHODS We conducted mutation screening employing PCR and direct sequencing for GJB2 in 126 children who had undergone cochlear implantation with congenital deafness. RESULTS We detected 10 mutations, including two unreported mutations (p.R32S and p.P225L) in GJB2. We identified the highest-frequency mutation (c.235delC: 44.8%) and other nonsense or truncating mutations, as in previous studies. However, in our research, p.R143W, which is one of the missense mutations, may also show an important correlation with severe deafness. CONCLUSION Our results suggest that the frequencies of mutations in GJB2 and GJB6 deletions differ among cohorts. Thus, our report is an important study of GJB2 in Japanese children with profound non-syndromic deafness.

Giant Cell Tumor of the Temporal Bone with Direct Invasion into the Middle Ear and Skull Base: A Case Report

Giant cell tumor (GCT) is classified as a benign bone tumor, and it is frequently identified at the epiphysis of long bones and relatively rare in the temporal bone. For orthopedists expert at recognizing bone and soft tissue tumors, the diagnosis of GCT is relatively easy; however, since head and neck surgeons experience few cases of GCT, it may be difficult to diagnose when it occurs in the temporal bone. A 32-year-old man complained of left hearing loss, aural fullness, and tinnitus. Examination of the ear revealed a bulging tumor. Audiologic examination demonstrated conductive hearing loss of the left ear. Computer tomograph of the temporal bone showed a soft-tissue-density specification indicating bone destruction at the left temporal bone. The tumor invaded the skull base. Imaging examinations using magnetic resonance imaging revealed a nonhomogenous isosignal intensity area on T1 at the left temporal bone. After intravenous gadolinium, the mass showed unequal enhancement. This patient subsequently underwent surgery to remove the lesion using transmastoid and middle fossa approach. Pathological examinations from specimens of the tumor revealed characteristic of GCT. No clinical or radiological evidence of tumor recurrence was detected for 4 years.

Surgical Management of Myringosclerosis over an Entire Perforated Tympanic Membrane by Simple Underlay Myringoplasty

The aim of our study is to demonstrate the surgical management of myringosclerosis over a perforated whole tympanic membrane using simple underlay myringoplasty. Simple underlay myringoplasty with fibrin glue was performed in 11 ears with myringosclerosis over the entire tympanic membrane. The patients were one male and ten females and their mean age was 61.8 years (range, 40–73 yr). Surgical success was defined as an intact tympanic membrane 12 months after surgery. Closure of the perforation was successful in 10 (91%) of the 11 patients. Failure of the graft occurred in one patient who then underwent a revision procedure using her stored fascia in the outpatient clinic with a successful outcome. The overall success rate was 100%. Although this study included a small number of cases, removal of myringosclerosis at the edge of a perforation is a beneficial technique for simple underlay myringoplasty in terms of the success rate and postoperative hearing threshold, especially when myringosclerosis extends over the entire tympanic membrane.

The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients

OBJECTIVE This study aimed to investigate the prevalence of GJB2 gene for the 235delC mutations, the clinical features and the outcomes of patients who had undergone cochlear implantation. METHODS We have sequenced the coding region of GJB2 gene for 135 patients with sensorineural deaf from September 2000 to May 2009. Of the 135 patients, the patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E were detected and were investigated clinically. RESULTS The GJB2 gene for the 235delC mutations was found in 39 alleles of 270 alleles (14.4%), especially for the homozygous of 235delC was detected in 26 alleles (9.6%), the single heterozygous of 235delC was 1 allele (0.4%), the compound heterozygous of 235delC was found in 12 alleles (4.4%). Of 16 subjects (29 alleles) with the homozygous 235delC and the compound-heterozygous Y136X/G45E, 2 subjects (4 alleles) were found to have complications. All of the subjects were found to show severe hearing loss and some of them have indicated progressive hearing loss. However, they showed better performance regarding the thresholds after implantation. The subjects with complications, although, suggested poorer performance in the auditory speech performance. CONCLUSION The findings of poorer outcomes might depend on complications and brain functions. In addition, considering the blood test parameters, an independent elevated LDH and ChE at diagnosis were found to be associated with hereditary enzymes metabolic disease. Therefore, the value of LDH measurements in patients might be a helpful predictive parameter in hereditary diseases.

Bacterial contamination of multiple-use atomizers commonly used in Japan.

Before performing transnasal fiberscopy to observe the nasal cavity, pharynx and larynx in outpatient clinics, nasal anesthetics and vasoconstrictive agents are routinely sprayed into the nares in order to improve patients’ comfort. Bacterial contamination of the nozzles of Venturi principle atomizer barrels and their solutions after being used for multiple patients over a long-term period without cleaning is controversial. We evaluated the potential risk of atomizer-associated cross-infection by using atomizers commonly available in Japan that use compressed air to atomize medication. Eighteen of the 23 samples (78.3%) from the external nozzle tips of the atomizers resulted in positive bacterial cultures. These detected bacteria are suggested to be colonized in the nares and to cause bacterial contamination of the atomizer. Of the 25 samples obtained from the spray of the drug solutions, 11 samples showed positive bacterial culture, whereas 16 control samples produced no growth of bacteria. The present study demonstrated that the atomizer widely used in the outpatient ENT clinics in Japan has a potential risk of causing cross-infection of patients.