Late Infantile-Onset Globoid Cell Leukodystrophy: Treatment using Hematopoietic Stem Cell Transplantation / 대한소아신경학회지

Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset. Approximately 80–85% of patients have an early infantile form, while 10–15% has a late infantile form. Globoid cell leukodystrophy leads to a progressive neurological deterioration, and affected patients rarely survive more than 2–3 years. Although many different treatments have been investigated over several decades, further research is still needed. Hematopoietic stem cell transplantation is the standard treatment for globoid cell leukodystrophy. Here, we report a case of symptomatic late-infantile globoid cell leukodystrophy treated with stem cell transplantation. After transplantation, disease progression ceased and cognitive and motor function improved. And a 6 months follow-up study using brain magnetic resonance imaging showed white matter involvement was increased. After that, annual follow-up brain magnetic resonance imaging showed a stable status of disease.

Association of a genetic polymorphism of IL1RN with risk of acute pancreatitis in a Korean ethnic group

BACKGROUND/AIMS: Several epidemiological studies have validated the association of interleukin gene polymorphisms with acute pancreatitis (AP) in different populations. However, there have been few studies in Asian ethnic groups. We aimed to investigate the relationships between inflammatory cytokine polymorphisms and AP as pilot research in a Korean ethnic group. METHODS: Patients who had been diagnosed with AP were prospectively enrolled. DNA was extracted from whole blood, and DNA sequencing was subsequently performed. Single-nucleotide polymorphisms (SNPs) of the interleukin 1β (IL1B), interleukin 1 receptor antagonist (IL1RN), and tumor necrosis factor α (TNFA) genes of patients with AP were compared to those of normal controls. RESULTS: Between January 2011 and January 2013, a total of 65 subjects were enrolled (40 patients with AP vs. 25 healthy controls). One intronic SNP (IL1RN −1129T>C, rs4251961) was significantly associated with the risk of AP (odds ratio, 0.304; 95% confidence interval, 0.095 to 0.967; p = 0.043). However, in our study, AP was not found to be associated with polymorphisms in the promoter regions of inflammatory cytokine genes, including IL1B (−118C>T, c47+242C>T, +3954C/T, and −598T>C) and TNFA (−1211T>C, −1043C>A, −1037C>T, −488G>A, and −418G>A). CONCLUSIONS: IL1RN −1129T>C (rs4251961) genotypes might be associated with a significant increase of AP risk in a Korean ethnic group.

Clinical Aspects and Surgical Outcomes of Congenital Cholesteatoma in 93 Children: Increasing Trends of Congenital Cholesteatoma from 1997 through 2012

BACKGROUND AND OBJECTIVES: The recent increase in the reported incidence of congenital cholesteatoma (CC) may be secondary to the widespread use of otoendoscopy as well as an increased awareness of these lesions among primary care physicians. However, little research about CC has been conducted in a large group of patients. This study aimed to analyze the clinical characteristics of CC including the annual number of patients, symptoms, age at diagnosis, stage and type of disease, surgical techniques, recurrence, and postoperative complications. SUBJECTS AND METHODS: Retrospective chart review was performed for patients who met the inclusion criteria between January 1997 and June 2012. RESULTS: Ninety-three patients underwent surgery for CC. The age at operation ranged from 12 months to 17 years (mean age, 6.1 years). The number of patients was less than 4 per year until 2005, but increased to more than 10 per year since 2008. CC was most commonly reported as an incidental finding (58.1%). The operative procedures included the transcanal myringotomy approach (46.2%), canal wall up mastoidectomy (37.6%), tympanoplasty (8.6%), and canal wall down mastoidectomy (7.5%). The recurrence rate was 20.4% and the complication rate was 12.9%. No patients with stage I CC had complications. CONCLUSIONS: This study showed that the incidence of CC has recently increased notably. Most patients with stage I and II CC were completely cured by transtympanic surgery, and complication and recurrence rates increased according to the extent of disease. Early detection of CC is important to facilitate minimally invasive surgery and to reduce complication and recurrence rates.

Language Development in Profoundly Prelingually Deaf Children with Cochlear Implantation: Long-Term Outcomes / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: It is well established that cochlear implantation provides significant benefits for prelingually profound deaf children. However, there are few studies that examined the long-term outcome of cochlear implantation beyond 10 years in prelingually deaf children. The purpose of this study was to examine the long-term benefit of cochlear implantation for children with more than 10 years of experience of using cochlear implantation, regarding auditory performance and academic status. We then determined the age effect of cochlear implantation on auditory performance for prelingually deaf children. SUBJECTS AND METHOD: The longitudinal development of auditory performance of 119 deaf children was analyzed after cochlear implantation. Among the 119 children, 58 were included for analysis. RESULTS: The children who received cochlear implanst at younger age showed significantly better auditory performance. Age at which implantation had been performed had a significant effect on the development of auditory performance before 4 years of age. Many children continued to demonstrate improvements of auditory performance upto five years of implant use. Some showed development of auditory performance upto 10 years cochlear implantation. CONCLUSION: The present result indicates that speech perception and performance for children continue to improve over time from 5 upto 10 years while using cochlear implant. The use of earlier cochlear implantation was demonstrated to provide better auditory performance. The age at which implantation was performed was one of the important factors influencing the long-term outcome of cochlear implantation.

Prediction of Cochlear Implant Outcomes in Patients With Prelingual Deafness

OBJECTIVES: To evaluate the factors that limit post-cochlear implantation (CI) speech perception in prelingually deaf children. METHODS: Patients with CI were divided into two groups according to Category of Auditory Performance (CAP) scores 3 years post-CI: the poor performance group (poor performance group, CAP scores≤4, n=41) and the good performance group (good performance group, CAP scores≥5, n=85). The distribution and contribution of the potential limiting factors related to post-CI speech perception was compared. RESULTS: Perinatal problems, inner ear anomalies, narrow bony cochlear nerve canal (BCNC), and intraoperative problems was significantly higher in the poor performance group than the good performance group (P=0.010, P=0.003, P=0.001, and P=0.045, respectively). The mean number of limiting factors was significantly higher in the poor performance group (1.98±1.04) than the good performance group (1.25±1.11, P=0.001). The odds ratios for perinatal problems and narrow bony cochlear nerve canal in the poor performance group in comparison with the good performance group were 4.878 (95% confidence interval, 0.067 to 0.625; P=0.005) and 4.785 (95% confidence interval, 0.045 to 0.972; P=0.046). CONCLUSION: This study highlights the comprehensive prediction of speech perception after CI and provides otologic surgeons with useful information for individualized preoperative counseling of CI candidates.

Optical Coherence Tomography for the Diagnosis and Evaluation of Human Otitis Media

We report the application of optical coherence tomography (OCT) to the diagnosis and evaluation of otitis media (OM). Whereas conventional diagnostic modalities for OM, including standard and pneumatic otoscopy, are limited to visualizing the surface of the tympanic membrane (TM), OCT effectively reveals the depth-resolved microstructure below the TM with very high spatial resolution, with the potential advantage of its use for diagnosing different types of OM. We examined the use of 840-nm spectral domain-OCT (SD-OCT) clinically, using normal ears and ears with the adhesive and effusion types of OM. Specific features were identified in two-dimensional OCT images of abnormal TMs, compared to images of healthy TMs. Analysis of the A-scan (axial depth scan) identified unique patterns of constituents within the effusions. The OCT images could not only be used to construct a database for the diagnosis and classification of OM but OCT might also represent an upgrade over current otoscopy techniques.

Optical Coherence Tomography for the Diagnosis and Evaluation of Human Otitis Media

We report the application of optical coherence tomography (OCT) to the diagnosis and evaluation of otitis media (OM). Whereas conventional diagnostic modalities for OM, including standard and pneumatic otoscopy, are limited to visualizing the surface of the tympanic membrane (TM), OCT effectively reveals the depth-resolved microstructure below the TM with very high spatial resolution, with the potential advantage of its use for diagnosing different types of OM. We examined the use of 840-nm spectral domain-OCT (SD-OCT) clinically, using normal ears and ears with the adhesive and effusion types of OM. Specific features were identified in two-dimensional OCT images of abnormal TMs, compared to images of healthy TMs. Analysis of the A-scan (axial depth scan) identified unique patterns of constituents within the effusions. The OCT images could not only be used to construct a database for the diagnosis and classification of OM but OCT might also represent an upgrade over current otoscopy techniques.

Comparative Analyses between Receiver in the Canal Hearing Aids and Closed Fit Hearing Aids: Preliminary Study / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The aim of this study was to compare the degree of satisfaction of the patients, hearing loss type and severity, and satisfactory and unsatisfactory factors between closed fit hearing aid (HA) and receiver in the canal (RIC) HA. SUBJECTS AND METHOD: Seventeen patients with hearing loss participated in this study. All patients had used closed fit HAs prior to the study, with the ratio of those using in the canal (ITC) types and completely in the canal (CIC) types being 4:13. After a 2-week trial period of using RIC HAs, patients were evaluated for their satisfaction of using RIC HAs by filling out the questionnaire on the Korean version International Outcome Inventory for hearing aids (K-IOI-HA). RESULTS: The visual analogue scale (VAS) score of closed fit HA was higher in the RIC-HAdissatisfied group (5, n=9). The K-IOI-HA score of closed fit HA was higher than that of RIC HA in the RIC-HA-dissatisfied group and similar in the RIC-HA-satisfied group. Audiologically, air conduction and bone conduction thresholds at 500 Hz were lower in the RIC-HA-satisfied group than in the RIC-HA-dissatisfied group. In addition, the VAS score of RIC HA was negatively correlated with air and bone conduction thresholds and the K-IOI-HA score of RIC HA was positively correlated with speech discrimination score, whereas the VAS and K-IOI-HA scores of closed fit HA were not. CONCLUSION: Among the patients with closed fit HA, some patients indicated RIC HA to be suitable and showed intention to change. The HA should be prescribed firstly based on audiologic criteria, which could increase the subjective satisfaction and prevent poor compliance due to incongruity.

Erratum: Optical Coherence Tomography for the Diagnosis and Evaluation of Human Otitis Media

We made two mistakes in our recently published article. We are correcting the authorship and funding information.

Updates in Prognostic Factors of Cochlear Implantation / 대한이비인후과학회지

Cochlear implantation has become the standard method for the rehabilitation of patients with profound sensorineural hearing loss. The degree of auditory benefit following cochlear implantation is affected by pre-, per-, and postoperative variables and shows individual variability. Since various studies about the predictive variables have been reported, efficacy of some variables is proven and new prognostic variables are being suggested as device technology and surgical/medical technique is developed. The comprehensive pre-implant assessment by identifying potentially limiting variables could be fundamental to counseling of candidacy and prediction of outcome with cochlear implant.

Iodinated Contrast Media Can Induce Long-Lasting Oxidative Stress in Hemodialysis Patients

PURPOSE: Due to their comorbidities, dialysis patients have many chances to undergo radiologic procedures using iodinated contrast media. We aimed to assess time-sequenced blood oxidative stress level after contrast exposure in hemodialysis (HD) patients compared to those in the non-dialysis population. MATERIALS AND METHODS: We included 21 anuric HD patients [HD-coronary angiography (CAG) group] and 23 persons with normal renal function (nonHD-CAG group) scheduled for CAG, and assessed 4 oxidative stress markers [advanced oxidation protein products (AOPP); catalase; 8-hydroxydeoxyguanosine; and malondialdehyde] before and after CAG, and subsequently up to 28 days. RESULTS: In the nonHD-CAG group, only AOPP increased immediately after CAG and returned to baseline within one day. However, in the HD-CAG group, all four oxidative stress markers were significantly increased starting one day after CAG, and remained elevated longer than those in the nonHD-CAG group. Especially, AOPP level remained elevated for a month after contrast exposure. CONCLUSION: Our study showed that iodinated contrast media induces severe and prolonged oxidative stress in HD patients.

Clinical Effects of Bile Aspiration Just before Contrast Injection during Endoscopic Retrograde Cholangiopancreatography / 대한소화기학회지

BACKGROUND/AIMS: This study was designed to determine whether bile aspiration before contrast injection cholangiogram prevent of post-ERCP cholangitis, liver function worsening, cholecystitis and pancreatitis. METHODS: One hundred and two patients in the bile aspiration group before contrast injection from December 1, 2008 to December 30, 2009 and 115 patients in the conventional control group from January 1, 2010 to June 30, 2010 were analyzed. The incidence of post-ERCP cholangitis, liver function worsening, cholecystitis, pancreatitis, and hyperamylasemia only were compared between these two groups. RESULTS: In the 102 patients with the bile aspiration group, post-ERCP cholangitis in 3 patients (2.9%), liver function worsening in 4 patients (3.9%), cholecystitis and pancreatitis in none, and hyperamylasemia only in 6 patients (5.8%) occurred. In the 115 patients with control group, post-ERCP cholangitis in 1 patient (0.4%), liver function worsening in 9 patients (7.8%), cholecystitis in none, pancreatitis in 3 patients (2.6%), hyperamylasemia only in 10 patients (8.6%) developed. The two groups did not significantly differ in terms of the incidence of post-ERCP cholangitis, liver function worsening, pancreatitis, and hyperamylasemia only (p>0.05). CONCLUSIONS: Initially bile juice aspiration just before contrast injection into the bile duct rarely prevented post-ERCP cholangitis, liver function worsening, and pancreatitis in patients with the extrahepatic bile duct obstruction.

Voxel-Wise Analysis of Diffusion Tensor Imaging for Clinical Outcome of Cochlear Implantation: Retrospective Study

OBJECTIVES: To evaluate retrospectively, the possible difference in diffusion tensor imaging (DTI) metric of fractional anisotropy (FA) between good and poor surgical outcome cochlear implantation (CI) patients using investigator-independent voxel-wise analysis. METHODS: Eighteen patients (11 males, 7 females; mean age, 5.9 years) with profound sensorineural hearing loss underwent DTI scans using a 3.0 Tesla magnetic resonance scanner. Among the 18 patients, 10 patients with categories of auditory performance (CAP) score over 6 were classified into the good outcome group and 8 patients with CAP score below 6 were classified into the poor outcome group. The diffusion tensor scalar measure was calculated from the eigenvalues of the tensor on a voxel-by-voxel basis from each subject and two-sample t-test evaluation between good and poor outcome subjects were performed for each voxel of FA values, across the entire brain, with a voxel-wise intensity threshold of P<0.0005 (uncorrected) and a contiguous cluster size of 64 voxels. Individual values of FA were measured by using the region-of-interest based analysis for correlation analysis with CAP scores, open sentence and open word scores. RESULTS: Two-sample t-test evaluation using SPM voxel-wise analysis found significantly higher FA values at the several brain areas including Broca's area, genu of the corpus callosum, and auditory tract in good outcome subjects compared to poor outcome subjects. Correlation analyses between FA and CAP scores, open sentence and open word scores revealed strong correlations at medial geniculate nucleus, Broca's area, genu of the corpus callosum and auditory tract. CONCLUSION: Investigator-independent voxel-based analysis of DTI image demonstrated that good outcome subjects showed better neural integrity at brain areas associated with language and auditory functions, suggesting that the conservation of microstructural integrity of these brain areas is important. Preoperative functional imaging may be helpful for CI.

Reversible Sensorineural Hearing Loss due to Pachymeningitis Associated with Elevated Serum MPO-ANCA

Hypertrophic pachymeningitis is a progressive disease resulting in a diffuse thickening of dura mater due to inflammation, tumor or autoimmune diseases, but most cases are idiopathic. It is seldom reported to be related to sensorineural hearing loss, but it can cause sensorineural hearing loss which can be potentially reversed through treatment. Here, we report the case of a 54-year-old woman who had progressive, bilateral, worse in the left, sensorineural hearing loss and visual disturbance with an accompanying headache over several months. Brain MRI showed diffusely thickened dura mater, highly enhanced after gadolinium administration, which was consistent with pachymeningitis. It was assumed to be related to autoimmune pathogenesis on the basis of elevated serum myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) titers. After empirical steroid and cyclophosphamide therapy, auditory impairment improved, especially in the high frequency region of the pure tone audiogram, and significant improvement in the word recognition test. Moreover, a follow-up MRI revealed much decreased enhancement of the dura mater, and the MPO-ANCA titer decreased to within the normal range. In the case of rapidly progressive sensorineural hearing loss or hearing impairment accompanying other cranial neuropathy, pachymeningitis should be taken into consideration, and brain MRI with gadolinium enhancement is the best method of detecting it. Also, to ensure proper treatment, a cautious evaluation including an ANCA work-up should be performed.

A Case of Facial Nerve Schwannoma Presenting as an External Auditory Canal Mass

Facial nerve schwannoma is a rare benign tumor that arises from the Schwann cell sheath of facial nerve. Although the tumor can occur anywhere along the course of the peripheral nerve, it is frequently present as an internal auditory canal mass in the head and neck region. We experienced a rare case of facial nerve schwannoma on the mastoid segment, which was presented as an external auditory canal mass in a 24-years-old man. The lesion was removed via the transmastoid approach and the facial nerve was grafted using the greater auricular nerve. The patient's facial nerve function was preserved postoperatively as House-Brackmann grade III.

Sex Differences in a Cross Sectional Study of Age-related Hearing Loss in Korean

OBJECTIVES: The purpose of this study was to obtain sex- and age-specific reference level for hearing threshold of normal aging in Korean and to determine if the rate of change in pure-tone hearing thresholds differed by sex. METHODS: Subjects were clients who visited the Health Promotion Center, Daegu Fatima Hospital, Daegu, Korea, from January 2004 to September 2005. Pure-tone audiometric measures were obtained from 3,470 subjects who also completed a hearing questionnaire. The slope of a linear regression was used to estimate the rate of change in pure-tone thresholds at 0.25 to 8 kHz for each ear in 214 men and 902 women without past history of otorrhea, usage of ototoxic drugs, head injury, job in noisy environment, and military service. RESULTS: Hearing thresholds were elevated with age in all test frequencies. Significant sex differences were found in pure-tone thresholds at 4 and 8 kHz after adjusting for age using analysis of covariance. In those high frequencies, hearing was worse in men than in women. The average rate of change in threshold was 0.28 and 0.24 dB per year at 0.25 kHz, increasing gradually to 1.27 and 1.05 dB per year at 8 kHz for men and women, respectively. Men had significantly faster rates of threshold increase at 4 and 8 kHz than women. CONCLUSION: These cross-sectional measures of hearing levels and rate of threshold increases at 4 and 8 kHz showed significant sex differences in Korean men and women with little evidence of noise-induced hearing loss.

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.

Cochlear Implant in Patients with Incomplete Partition Type III / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Among inner ear anomaly, incomplete partition type III is a quite rare finding which has pathognomonic computerized tomographic finding with bilateral, dilatation of lateral end of internal auditory canal, and deficient or absent bone between internal auditory canal and the basal turn of cochlea. Patients with incomplete partition type III have various range of hearing impairment and in case of severe hearing loss which cannot get benefit from hearing aids, cochlear implantation is indicated. In cochlear implantation for incomplete partition type III, perilymph gusher and abnormal electrode position is highly cautioned. We analyzed cochlear implantation patients with incomplete partition type III to find common intra-operative finding and complication. SUBJECTS AND METHOD: Temporal bone computerized tomographies of 120 patients who received cochlear implantation between September, 2002 and March, 2008 in our hospital were reviewed : the imaging of 4 patients were consistent with typical incomplete partition type III. We reviewed intra-operative finding and postoperative complications along with hearing outcome. RESULTS: During the operation, perilymph gusher was encountered in all cases, and it was tightly sealed with subcutaneous tissue and fat with fibrin glue. In patient 1, electrodes were abnormally positioned in IAC causing facial nerve stimulation. However, the result of postoperative speech perception was good in the patient, and in the rest of patients, the results were various. CONCLUSION: The surgeon should be aware of perilymph gusher when cochlear implantation is performed on patients with characteristic temporal bone computerized tomographic findings and who are suspicious of incomplete partition type III

Effect of Bimodal Hearing in Speech Perception Under Noisy Environment According to Residual Hearing / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: In this study, we evaluated the effect of bimodal hearing in the speech perception test and the increasing level of bimodal hearing over cochlear implantation in speech perception score regarding residual hearing. SUBJECTS AND METHOD: Nineteen prelingually deaf patients, who had used bimodal hearing over a period of 8 months, were divided in two groups in accordance to their low frequency residual hearing. The children were tested in open-set speech perception under +10 SNR and +20 SNR. The scores of bimodal hearing and unilateral cochlear implantation were compared by the Wilcoxon signed-rank test. Also, the increased level of speech perception scores of bimodal hearing over cochlear implantation alone were calculated using the formula, [bimodal score (%)-unilateral cochlear implantation (%)], and was compared between groups. RESULTS: In pure tone audiometry under silent condition, the result of bimodal hearing was similar to unilateral cochlear implantation in magnitude in both groups. Under the noisy condition, both groups had better result in bimodal hearing in terms of speech perception. Also, the increased level was higher in bimodal hearing over unilateral cochlear implantation in the better residual hearing group. However, since the sample size was small enough, it is considered that there was no statistical significance. CONCLUSION: Cochlear implanted patients with residual hearing are expected to get better speech perception in noisy environment with bimodal hearing regardless of the level of residual hearing.

A Case of Cochlear Implantation in a Postligual Deaf Patient with Osteogenesis Imperfecta / 대한이비인후과학회지

Osteogenesis imperfecta is a systemic heritable disorder of connective tissues with the predominant manifestation of spontaneous bone fractures. It features an abnormal biosynthesis of collagen with the formation of pathologic, immature collagen, resulting in a triad of brittle bones, blue sclera and hearing impairment. A 39-year-old woman with osteogenesis imperfecta began noticing hearing loss as a teenager. At the time of her presentation, she was aided by a hearing aid, which she had been using for 25 years but had not been benefited from. Her temporal CT shows severe otospongiosis, with radiolucent bone surrounding the cochlea. The patient underwent cochlear implantation to her left ear with no postoperative complication. She has obtained significant hearing improvement after the cochlear implantation. Cochlear implantation in cases of osteogenesis imperfecta with otospongiosis appears to be extremely rare and we present this case with a review of the related literature.