Sachie Kawaguchi

Polymorphic analysis of the heat-shock protein 70 gene (HSPA1A) in Ménière's disease

Conclusions. The single nucleotide polymorphism (SNP) 190 G/C in HSP70-1 (HSPA1A) was found to be a factor associated with Ménières disease (MD). It is suggested that SNP 190 G/C could be scientific evidence to prove the relation between MD and stress as a trigger factor. Objective. Although it is widely known that MD might be caused by psychological stress, definitive scientific evidence has not been established. To understand an association between stress and MD, we analyzed the SNP of HSP70-1 (HSPA1A) in patients with MD. Subjects and methods. We enrolled 49 patients given a diagnosis MD, consisting of 20 men and 29 women. Controls were 100 normal subjects. We isolated genomic DNA from peripheral leukocytes with the PAX gene Blood DNA kit (Qiagen®), and determined the SNP of HSPA1A. All subjects were investigated as regards hearing level and vertigo attacks, and were evaluated as to the profile of mood states (POMS) concerning psychological stress. Results. A SNP located on position 190 was found within a regulatory region in HSPA1A, and the frequency of having at least one 190C allele was significantly higher in the MD patients than the controls (p<0.001).

Long-term complications after cochlear implantation

OBJECTIVE Cochlear implantation has become an effective treatment for many profoundly deaf patients. As with any surgical procedure, a proportion of patients suffer postoperative complications. The aim of this study was to analyze long-term postoperative complications in patients with cochlear implants with a view to improve clinical interventions and propose a consensus for reporting complications. METHODS A total of 406 cases received cochlear implants between December 1985 and April 2007 at Tokyo Medical University (TMU) Hospital. We retrospectively reviewed case notes from 366 patients who had undergone cochlear implantation (215 adults and 151 children) after excluding 40 patients of re-implantation including 13 cases implanted initially at other hospitals. Life-threatening, major and minor complications were examined retrospectively. RESULTS Major complications occurred following cochlear implantation in 32 patients (8.7%) who had received their initial implant at TMU Hospital. Revision surgery was required for 30 patients. The mean age at implantation was 33 years 6 months (range, 1 year 9 months to 83 years; median, 37 years). The main etiology of deafness was unknown or progressive (113, 52.6%) in adults and congenital (132, 87.4%) in children. The cause of deafness was meningitis in 41 cases (11.2%), and 26 cases (7.1%) were diagnosed with idiopathic sudden deafness. Flap-related problems (including middle ear infection and/or flap necrosis) developed in 13 cases (3.6%), with 12 cases (7 adults, 5 children) requiring re-implantation. Electrode slip-out occurred in 8 patients (7 adults, 1 child). All adult cases in whom electrodes slipped out underwent implantation before 1994, while the child (1 pediatric case) was operated in 2003. All cases required re-implantation and most cochlear implantations were performed using the modified split-bridge technique after 1997. Six patients (4 adults, 2 children) experienced device failure. Four patients experienced electrode problems. Non-surgical major complications included 1 patient with permanent facial nerve paralysis as a result of thermal injury in 1995. The total number of minor medical and surgical complications was 27, representing 7.4% of all operations. CONCLUSION Many cases of major complications, including electrode problems and facial paralysis, excluding traumatic device failure were considered avoidable by strict operative and postoperative procedures. Some cases of flap infection and traumatic device failure may not be able to be avoided completely, and every possible care should be taken by implant patients and others involved.

Application of a rapid-prototyped temporal bone model for surgical planning.

Conclusion This 3D prototyped model constructed using a selective laser sintering method serves as a good material for surgical simulation of a malformed ear. Objective In order to perform surgery of the malformed ear, a thorough understanding of the anatomy of the ear is required, together with sufficient experience. The aim of this study was to investigate the validity of a prototyped temporal bone model for surgical simulation. Material and methods Simulated 3D models of two cases of congenital aural atresia were prototyped using a selective laser sintering method. Conventional surgical instruments were used to dissect the models. Results Abnormal structures of the middle ear, such as the ossicles, labyrinth and facial nerve, were identified by dissecting the model. Presurgical dissection informed the surgeon of the optimum orientation for surgery. The model was disinfected and could be handled by the surgeon in the operating room. Surgery could be carried out safely although in one case it was canceled because of the highly abnormal location of the middle ear cleft and facial nerve.

Bilateral progressive hearing loss and vestibular dysfunction with inner ear antibodies

Autoimmune inner ear disease (AIED) is a clinical syndrome of uncertain etiology. We present the neuro-otological findings of 2 cases of bilateral hearing loss, dizziness and the antibody profiles of the inner ears. Case 1 had bilateral progressive hearing loss, vestibular dysfunction and abnormal eye movement as the disease progressed. She had inner ear antibodies against 42 and 58kDa protein antigency on Western blot immune assay, and responded to glycocorticosteroid but not to immunosuppressant treatment. Intratympanic steroid injection temporally eliminated her symptoms. However, she developed idiopathic Cushings syndrome and underwent labyrinthectomy. Case 2 became deaf as a teenager and experienced dizziness 10 years after becoming deaf. He reacted strongly to 68kDa protein and was a good responder to immunosuppressant with steroid. As we still lack a definitive diagnostic test for AIED, careful observation of the clinical course is critical for differential diagnosis regarding the bilateral progressive hearing loss.

Cochlear implantation in a patient with Epstein syndrome

Epstein syndrome is a rare disease which is accompanied by nephritis, sensorineural hearing impairment and macrothrombocytopenia. It has been suggested that this syndrome is a hereditary disease associated with mutations in MYH9, which encodes non-muscle myosin heavy chain IIA. We report a case of a patient with Epstein syndrome in whom bilateral profound hearing impairment developed and who had undergone cochlear implantation 9 years previously. Prior to this, the patient showed progressive sensorineural hearing impairment and had become completely deaf by the age of 25. A cochlear implant was successfully used with a speech discrimination score of 98% (sentence test). However, in the present case, peri- and postoperative complications occurred: tympanic perforation remained after a promontory stimulation test, followed by transitory otitis with purulent discharge. Therefore, tympanoplasty was performed simultaneously with cochlear implantation. These complications were considered to be caused by platelet dysfunction and delayed wound healing. Furthermore, cochlear destruction was observed 8 years postoperatively. In Epstein syndrome, the mechanism of osseous change remains uncertain. To the best of our knowledge, this is the first case report of Epstein syndrome in a patient with long-term use of a CI.

Fluctuating mixed-type hearing loss associated with synovitis–acne–pustulosis–hyperostosis–osteomyelitis (SAPHO) syndrome

Synovitis, acne, palmoplantar pustulosis (PPP), hyperostosis, and osteitis (SAPHO) are the characteristic features of SAPHO syndrome. A 53-year-old woman had been treated for PPP for 2 years. She complained of hearing loss in the right ear, and otitis externa was diagnosed. The pure-tone audiogram (PTA) indicated mild hearing loss in the right ear, and her hearing continued to deteriorate despite recovery from inflammation. Her tympanogram was of the As-type, and acoustic reflex was absent in the right ear. A computed tomography (CT) scan revealed bilateral normal ossicles and cochleas. Bone scintigraphy revealed tracer uptake in the bilateral sternoclavicular joints, glenohumeral joints, and the capital humerus. She was hospitalized for arthralgia, and the pain was controlled with steroid therapy. Her right hearing deteriorated soon after the tapering of the steroid; her hearing recovered after cyclosporine therapy was initiated. The first tonsil provocation test showed increased blood cells in the urine, and the second test showed exacerbation of pustulosis. Despite immunosuppressant therapy, the arthritis attacks and hearing loss persisted; therefore, tonsillectomy was performed, which improved PPP. However, her hearing remained unchanged after the operation. We considered that irreversible changes might have already developed in the ossicular joints, and ossicular reconstruction was performed. Thereafter, her hearing and earache improved.

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.

Speech recognition in bilaterally cochlear implanted adults in Tokyo, Japan

Abstract Introduction: The clinical effects of bilateral cochlear implantation (BCI) include binaural summation and better hearing under noise conditions. This study retrospectively examined the utility of BCI compared to unilateral cochlear implantation (CI) in adults. Patients and methods: We investigated 34 adults who underwent BCI, comparing speech recognition between BCI and first CI under silent and noise conditions. We assessed correlations between speech recognition after first and second CIs, and between the interval from first to second CI surgery and speech recognition of second CI. Results: Word recognition score (WRS) and sentence recognition score (SRS) were significantly better after BCI than after first CI under conditions of silence and noise. No significant correlation was found between speech recognition after first CI and that after second CI, or between inter-implant interval and speech recognition of second CI for either WRS or SRS. Conclusions: The utility of BCI in Japanese patients was shown. Patients have no need to be pessimistic about hearing after the second implantation even if speech recognition after the first implantation is poor. A long interval from first CI does not necessarily contraindicate contralateral implantation in adults.

Simultaneous, laser-sintered, three-dimensional modelling of bony structures and soft tissue for surgical navigation of extended cholesteatoma

AIM To examine the usefulness of a three-dimensional model for surgical navigation of cholesteatoma. MATERIALS AND METHOD A three-dimensional model was prototyped using selective laser sintering. Based on detailed computed tomography data, powder layers were laser-fused and accumulated to create a three-dimensional structure. The computed tomography threshold was adjusted to simultaneously replicate bony structures and soft tissues. RESULTS The cholesteatoma, major vessels and bony structures were well replicated. This laser-sintered model was used to aid surgery for recurrent cholesteatoma. The cholesteatoma, which extended from the hypotympanum through the styloid process sheath and the internal carotid artery sheath, was removed safely via a minimal skin incision. CONCLUSION The laser-sintered model was useful for surgical planning and navigation in a cholesteatoma case involving complex bony structures and soft tissue.