Practica Oto-Rhino-Laryngologica
Online ISSN : 1884-4545
Print ISSN : 0032-6313
ISSN-L : 0032-6313
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Volume 107, Issue 10
Displaying 1-14 of 14 articles from this issue
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Editorial
  • Social Health Insurance-Based Genetic Testing for Deafness
    Shin-ichi Usami
    2014 Volume 107 Issue 10 Pages 745-758
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.745
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    There has been considerable progress in the discovery of deafness-related genes, but clinical application still entails difficulties due to the genetic heterogeneity associated with deafness. Approximately one hundred genes are estimated to cause hereditary hearing loss, but a number of these may result in similar phenotypes that entail no abnormalities other than hearing loss. The costs and time required for screening genes one-by-one are prohibitive, but it is now thought that certain mutations are recurrent. An initial screening strategy that focuses on those frequently reported, recurrent mutations expected to be commonly encountered in the clinical setting, might be an appropriate approach for clinical application. We have developed an advanced screening strategy (Invader assay) focusing on frequently recurring mutations that are most likely to be encountered in the clinical setting that identifies approximately 40% of deafness patients. This indicates that 30-40% of patients have deafness due to commonly found mutations, such as in GJB2 or SLC26A4. In Japan, from 2012 genetic testing using the Invader assay for deafness can be covered by social health insurance. Currently, we first apply the Invader assay for screening 46 known mutations of 13 known deafness genes followed by direct sequencing as necessary.
    For the remainder of the patients in whom the etiology is unknown, we are now applying Massively Parallel DNA Sequencing (MPS) of target candidate genes to discover rare causative genes. Exome sequencing using MPS is a new powerful strategy for rare Mendelian disorders such as deafness. Our recent data suggest that targeted exon sequencing of selected genes using the MPS technology will be able to identify rare responsible genes including new candidate genes for individual patients with deafness and improve molecular diagnosis in the clinical setting.
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Original articles
  • Three School-aged Children with Bilateral Cochlear Implants Operated on Six Years after Early Initial Implantation
    Atsushi Kawano, Nobuhiro Nishiyama, Sachie Kawaguchi, Kyoko Shirai, Ma ...
    2014 Volume 107 Issue 10 Pages 763-772
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.763
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    Currently, bilateral cochlear implantation (BCI) in children is reimbursed in Japan, and unilateral cochlear implantation (UCI) has been the standard treatment for profound deafness. In the present study we assessed three school-aged children who underwent BCI at about 8 years of age, 6 years after first implantation to determine whether BCI was associated with improved listening skills, performance under noise, and higher general quality of life compared with UCI. Our results showed that the children did not become accustomed to the second implant for the first few months, but noticeable improvements in listening abilities were made by 6 months. The ability to hear monosyllables, words, and sentences with the second implant showed almost the same results as the first implant after 6 months to 1 year. Overall, BCI was considerably beneficial to improve speech performance in 2 of the 3 children under noise, although the third child still exhibited relatively good results (S/N ratio, 0 dB). Our findings also indicated that BCI could aid in the development of spoken language skills in hearing-impaired children. The PVT (Picture Vocabulary Test) or PVT-R (Picture Vocabulary Test-Revised) results of all three children increased after the second surgery. The children’s parents and teachers also recognized changes in participation in school activities.
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  • Two Cases of Otitis Media with ANCA Associated Vasculitis
    Tomohisa Hirai, Noriyuki Fukushima, Nobuyuki Miyahara, Ayako Miyoshi, ...
    2014 Volume 107 Issue 10 Pages 773-781
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.773
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    We report herein on two cases of ANCA-associated middle ear disease. Case 1: A 31-year-old female first complained of left earache and left aural obstruction with an increase in serum levels of PR3-ANCA. Case 2: A 78-year-old female first complained of bilateral ear discharge and hearing loss with an increase in serum level of MPO-ANCA. In both cases, we clinically suspected ANCA-associated middle ear disease and administered steroids and an immunosuppressant. In case 1, the patient was making steady progress as regards the local symptoms. In case 2, bilateral facial paralysis had developed two months after the start of the therapy. In neither case did aggravation of the general symptoms develop.
    In the treatment of ANCA-associated middle ear disease, we must follow up carefully long enough to prevent development of hearing loss and facial paralysis.
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  • Outcomes of Stapes Surgery Using the Fiber-enabled CO2 Laser
    Hirokazu Katsura, Yasuo Mishiro, Miki Ikehata, Masafumi Sakagami
    2014 Volume 107 Issue 10 Pages 783-787
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.783
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    Small-fenestra stapedotomy (SFS) is generally regarded as a first-choice procedure in terms of minimizing postoperative dizziness and improving hearing levels. However, otosclerotic changes to the footplate are relatively mild in most Japanese patients. The CO2 laser has been widely used for management of the nasal mucosa in Japan. This study examined whether the CO2 laser could cut the crus bones to keep the footplate in place. This study evaluated data from 63 patients who had undergone stapes surgery with the CO2 laser between October 2010 and December 2013. A transcanal approach was adopted under general anesthesia. The stapes tendon and posterior crus were cut with the CO2 laser. The anterior crus was cut with the laser or was fractured. A SkeeterTM drill or CO2 laser was used to open the stapes footplate, and a piston was then inserted. SFS was performed in 50 patients (79%), partial stapedectomy in 9 (14%) and total stapedectomy in 4 (6%). Between 1999 and 2009, SFS was performed in 54 of 97 patients (56%), partial stapedectomy in 26 (27%), and total stapedectomy in 17 (18%). The postoperative air-bone gap was ≤10 dB in 33 cases (79%), 11-20 dB in 8 cases (19%), and >30 dB in 1 case. The rate of stapedotomy was significantly increased compared with the procedure without using a CO2 laser. Therefore, these results suggest that a CO2 laser can be used to cut the stapes crus during stapedotomy.
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  • Concurrent Superselective Intra-arterial Chemoradiotherapy for Advanced Squamous Cell Carcinomas of the Maxillary Sinus and Upper Gingiva Involving the Maxillary Sinus
    Haruo Hirakawa, Yasuyuki Nishi, Makoto Tada, Taisuke Watanabe
    2014 Volume 107 Issue 10 Pages 789-795
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.789
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    Concurrent superselective intra-arterial chemoradiotherapy (SIACRT), a combination of chemoradiotherapy (CRT) and superselective intra-arterial chemotherapy (SIAC), is a new therapeutic strategy for advanced squamous cell carcinomas (SCCs) of the head and neck. We have been applying SIACRT for SCC of the maxillary sinus and upper gingiva since 2008 and present herein the outcomes at our hospital. SIACRT was applied in 10 cases between 2009 and 2012, 7 males and 3 females with an age-range of 57 to 81. An intra-arterial micro-catheter was inserted into a feeding artery of the tumor super-selectively using Seldinger’s method. Cisplatin (CDDP) was injected into the tumor intra-arterially through the catheter at a rate of 5 mg per minute. At the same time sodium thiosulfate (STS) was intravenously administered at 200-fold the dose of CDDP in a molar quantity to reduce the toxicity of the CDDP. Irradiation was started on the same day.
    5-day-continuous intravenous administration of 5-fluorouracil (5FU) was started the next day. CDDP and 5FU were administered in the same way 4 weeks later. The total dose of irradiation was 50 to 60 Gy. In 8 cases, the protocol was applied correctly, and these patients showed complete response (CR) and survived without disease for more than 15 months. In 2 cases, the patient dropped out of the protocol, resulting in partial response (PR). Of these cases, 1 refused the 2nd administration of SIAC and in the other 2 courses of SIAC followed by SIACRT were administered. In 2 of the 8 CR cases, the application of SIACRT eliminated metastatic lymph node tumors.
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  • A Case of Facial Nerve Cavernous Hemangioma in the Temporal Bone
    Ken Iwanaga, Shinichi Sato, Kazuhiko Minami
    2014 Volume 107 Issue 10 Pages 797-803
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.797
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    We report herein on a rare case of cavernous hemangioma of the facial nerve. The patient was a 75-year-old woman with a first episode of facial nerve paralysis who was being treated with steroid pulse therapy. However, the paralysis failed to improve and had become exacerbated during the previous few years. Ultimately her facial score was 0/40 points by the Yanagihara method. CT imaging demonstrated a tumor at the tympanic to horizontal part of the facial nerve. MRI imaging demonstrated an enhanced lesion measuring 4×7×7 mm. A facial nerve schwannoma was suspected, and the tumor was totally removed via the transmastoid approach. Based on the histopathological examination the diagnosis was a cavernous hemangioma of facial nerve origin.
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  • Intraoral Therapy for Sialolithiasis in the Submandibular Gland or at the Junction of the Duct and the Gland
    Ayako Ino, Mizuno Sakai, Yuichi Ikari, Masatsugu Mitsuhashi, Takuya To ...
    2014 Volume 107 Issue 10 Pages 805-811
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.805
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    We retrospectively analyzed the medical records of 28 patients who underwent surgical extraction of sialolithiasis in the submandibular gland or at the junction of the duct and gland at the Sano Kosei General Hospital Department of Otorhinolaryngology between April 2003 and March 2014. Glandular stones were observed in 7 patients and at the junction in 21. Twenty-two patients had 1 stone; 5 had 2 stones; and 1 had 3 stones. In 21 patients, the maximum diameters of the 25 stones as measured by computed tomography (CT) were <5 mm for 5 stones, 5 to <10 mm for 7, 10 to <15 mm for 9, and ≧15 mm for 4. Preoperative bidigital palpation detected palpable stones in 19 (palpable group) and non-palpable stones in 6 patients (non-palpable group), while stones in 3 patients could not be determined. Of these 28 patients, 24 chose intraoral surgical treatment, while 4 chose submandibular gland extraction. In 23 of these 24 patients who underwent intraoral treatment, the stones were extracted as planned; in the remaining case, the stone was excreted naturally post-operation. All patients showed favorable postoperative progress. The postoperative complications in the intraoral treatment included temporary submandibular swelling in 7 patients, persistent pain in 4, and transient glossal nerve paralysis in 3, but no permanent complications. However, the non-palpable group had significantly longer operative durations and a higher incidence of complications.
    Intraoral surgical treatment can be used as the first-line therapy for sialolithiasis in the submandibular gland or at the junction of the duct and gland. Although intraoral treatment is possible in the non-palpable group, patients should be adequately informed about the complications risks, and their wishes, sex, and social background should be considered before performing this method.
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  • Usefulness of Fine Needle Aspiration Cytology for Parotid Gland Tumors
    Shigeto Itani, Kiyoaki Tsukahara, Kazuhiro Nakamura, Ray Motohashi, Mi ...
    2014 Volume 107 Issue 10 Pages 813-817
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.813
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    We have examined the diagnostic accuracy and usefulness of fine needle aspiration cytology (FNAC) for parotid tumors. Forty-nine patients received preoperative FNAC and surgery between August 2008 and May 2012 at Tokyo Medical University Hachioji Medical Center. Twenty-six were males and 23 were females with a mean age of 60.7 yr. FNAC was performed with a 21G needle under ultrasonography. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of a benign or malignant diagnosis were 90%, 97%, 90%, 97% and 96%, respectively. Preoperatively, 39 lesions were diagnosed as benign: 23 pleomorphic adenomas, 7 Warthin’s tumors, 1 basal cell adenoma and 8 others. One of the 23 diagnosed as a pleomorphic adenoma turned out to be salivary duct carcinoma. Preoperatively, 10 were diagnosed as malignant: 2 salivary duct carcinomas, 2 squamous cell carcinomas, 1 acinic cell carcinoma, 1 mucoepidermoid cell carcinoma, 3 adenocarcinomas and 1 lymphoepithelial carcinoma. One patient diagnosed as having lymphoepithelial carcinoma turned out to have a Warthin’s tumor. FNAC is useful for preoperative diagnosis and therapeutic planning for parotid gland tumors.
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  • An Atypical Case of Stevens-Johnson Syndrome Accompanied by Sore Throat
    Kosuke Saito, Motoki Sekine, Koji Ebisumoto, Masashi Hamada, Kenji Oka ...
    2014 Volume 107 Issue 10 Pages 819-824
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.819
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    Stevens-Johnson syndrome (SJS) is a severe immune-mediated cutaneous and mucous membrane reaction that is usually induced by drugs. We report herein on a case of SJS, which was difficult to diagnose. A 24-year-old man had congestion in both eyes 1 week prior to admission. The patient had high fever and a sore throat. Although he was being treated with antibiotics and painkillers for tonsillitis in a nearby hospital, his condition did not improve. He was referred to our hospital with conjunctivitis in both eyes and significant swelling and erosion of the nasal, pharyngeal, and laryngeal mucosa. After admission, the mucosal lesions were further exacerbated and the high fever remained. We believed that infection, autoimmune disease, or drugs were the cause; therefore, we did a biopsy of the buccal mucosa on the fifth hospital day and, based on the pathological findings, a diagnosis of SJS was made. After diagnosis, the patient’s condition improved without the need of steroids, but he had erythema with papules on his back on the eighth hospital day. The cause of this was unknown but his condition improved a few days after discontinuation of the antibiotic.
    There was no history of exposure to the drugs before the appearance of eye symptoms in this case. SJS may be caused by vaccinations, infection, or various diseases. Erythema multiforme major is generally characteristic of SJS; however, there are few reports of cases where the characteristic rash is delayed or absent. In these cases, the mortality rate and sequelae increase because the diagnosis is delayed. Therefore, in cases with advanced membrane lesions which are continuous from the transition of the cutaneous and mucous membranes, it is necessary to keep in mind that SJS is a possibility and a mucosal biopsy should be considered for early diagnosis even in cases with no rash or no drug exposure history.
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  • Three Cases of Adult Croup
    Kota Mizushima, Yoshiyuki Kawashima, Yumi Kishine, Takamori Takeda, Ta ...
    2014 Volume 107 Issue 10 Pages 825-832
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.825
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    Croup is an acute respiratory tract inflammation characterized by swelling of the subglottic tissue caused by an infection with respiratory viruses such as parainfluenza virus, influenza virus, adenovirus and respiratory syncytial virus. Its symptoms include fever, barking cough, stridor and hoarseness. It is a relatively common condition in childhood, especially at younger than three years of age. Since it rarely occurs in adulthood, the clinical features of adult croup are mostly unknown. We report herein on three cases of adult croup and review another 17 cases of adult croup described in the literatures written in English or Japanese. The clinical features of adult croup were compared to that of croup in children. The patients with adult croup present with symptoms such as sore throat and dysphagia in addition to the symptoms that are common for croup in children. A coronal neck X-ray revealed a characteristic narrowing of the subglottic trachea, the steeple sign, in all cases. Although flexible laryngoscopy also has a high diagnostic value, it is necessary to pay careful attention to the clinical findings of possible airway obstruction. Two of our three cases and eight of 17 reported cases required airway management, indicating a much more severe condition in adults compared to that in children. Another clinical characteristics of adult cases include that only very severe cases have been diagnosed as croup. A rise of antigen titer against parainfluenza virus type 3 was detected in one case, while influenza virus antigen was detected in the other two cases.
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  • A Clinical Study on 72 Cases of Oropharyngeal Carcinoma
    Toshiaki Sanka, Tetsuro Wakasugi, Gunji Nagatani, Toyoaki Ohbuchi, Tak ...
    2014 Volume 107 Issue 10 Pages 833-840
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.833
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    The incidence of oropharyngeal carcinoma has been increasing in Japan. We retrospectively analyzed 72 fresh cases of oropharyngeal carcinoma who were treated between 2005 and 2012 in our department. The subjects were 57 males and 15 females, aged 39 to 84 years with an average of 63.8 years. Sixty-five patients (90.3%) were in stages III/IV. The overall 5-year crude survival, disease-specific survival and local control rates determined by the Kaplan-Meier method were 46.4%, 61.4% and 70.3%, respectively. Both survival and local control rates were significantly higher in patients at T1/2 than in those at T3/4. Of 35 patients at T1/2, 27 (77.1%) were N(+). Twenty-two patients (30.6%) underwent surgery for the primary lesion, and in most of the other 50 patients, complete response of the primary lesion was obtained by chemoradiotherapy without surgery. These results indicate that oropharyngeal carcinomas are prone to metastasize to regional lymph nodes even if the primary lesion is small, but small primary lesions still lead to a good prognosis. The present data also suggested that oropharyngeal carcinomas are highly sensitive to chemoradiotherapy. A better prognosis and functional preservation may be achieved by detecting early primary lesions and distinguishing chemoradiotherapy-sensitive and insensitive cases in the future.
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  • Eight Cases of Methotrexate (MTX)-associated Lymphoproliferative Disorders
    Hideo Ogawa, Hiroshi Aritomo, Yusuke Shinomori, Daiki Takagi
    2014 Volume 107 Issue 10 Pages 841-845
    Published: 2014
    Released on J-STAGE: October 01, 2014
    DOIhttps://doi.org/10.5631/jibirin.107.841
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    Methotrexate-associated lymphoproliferative disorders (MTX-LPD) comprise lymphoid proliferations in subjects with autoimmune disease, especially rheumatoid arthritis (RA) treated with methotrexate (MTX).
    These disorders are recognized as a distinct disease entity in the 2001 World Health Organization classification. We herein report on our experience with 8 patients suffering from RA as an underlying disease who developed MTX-LPD of the head and neck region during the 4-year period from May 2008 to January 2012. Among these cases, one typical patient in whom discontinuation of MTX resulted in remission is described in detail. MTX 8 mg weekly was administered to a 50-year-old woman with RA. She suffered from a sore throat for two months and right tonsil swelling that eventually developed into an ulcer.
    Based on the histopathological findings from a tonsil biopsy, she was diagnosed as having diffuse large B-cell lymphoma. Clinically, she was diagnosed as having MTX-LPD, and MTX was discontinued. The oropharyngeal tumor gradually shrank, and 1 month after MTX withdrawal, the lesion had disappeared. Her clinical course continues to be good with no sign of recurrence.
    MTX-LPD is expected to increase as MTX is used increasingly to treat RA. We should therefore take MTX-LPD in consideration when examining subjects treated with MTX.
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