• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

• Clinical and Experimental Pediatrics
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• v.48 no.2
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• pp.186-190
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• 2005

Purpose : The purpose of this study was to evaluate the responses and toxicities of risk-adapted chemotherapy in pediatric intracranial germ cell tumors(IC-GCT). Methods : Fourteen patients who were diagnosed as IC-GCT from October 2002 to December 2003 received chemotherapy as an initial treatment modality. The low risk(LR) group was defined as follows : Pure germinoma and normal AFP level. Beta-hCG level 50 mIU/mL or less. The others belonged to the high risk(HR) group. Chemotherapy was composed of cisplatin, cyclophosphamide, etoposide and vincristine. Double doses of cisplatin and cyclophosphamide was used in HR patients. Results : Pathologic confirmation was done in all but one. Median age at diagnosis was 11.6 yr (1.2-18.7 yr), and nine patients belonged to the HR group. Tumor markers were normalized after chemotherapy in all patients whose tumor markers had been elevated. Four LR patients(80 percent) and seven HR patients(77.8 percent) showed complete response(CR) at the end of chemotherapy. An additional two of the three patients with partial response(PR) achieved CR after radiation therapy (RT), and the remaining one relapsed before RT. Four LR and all HR patients experienced infectious episodes that required hospitalization. Four of the nine HR patients(44.4 percent) suffered from tinnitus, three of whom developed sensorineural hearing loss. All but one are surviving, event-free, with a median follow-up of 13.9 mo(8.1-22.3 mo). Conclusion : Risk-adapted cisplatin-based chemotherapy was effective even in HR patients, but regimen modification seems to be necessary to avoid an unacceptably high toxicity rate.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.41.2-41
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• 1981

Tonsillectomy and adenoidectomy are the most common operations in the ENT field. Recent emphasis on careful selection of patients for these procedures derives from concern for complications of surgery, as well as the immunologic and anatomic functions of tonsils and adenoids. Adenoidectomy can relieve nasopharyngeal airway obstruction caused by enlarge adenoids, and can prevent complications such as heart failure and recurrent or chronic otitis media. We researched 117 cases of tonsilloadenoidectomy patients and 266 patients having routine examination from March, 1979 to February, 1981, and described the A/N ratio derived from linear measurements of lateral radiographs of the nasopharynx. The results of Impedance Audiometry and X-ray films from 117 cases of T&A patients were compared: 1) The average A/N ratio by age groups for 266 cases of normal children showed: 0.508 for age group, 0 to 3 years old, 0.533 for age group, 4 to 6 years old, 0.524 for age group, 7 to 9 years old, 0.519 for age group, 10 to 12 years old, 0.507 for age group, 13 to 15 years old, 0.481 for age group over 15 years old. The peak value lies in the age group of 4 to 6 years old. The sex difference of A/N ratio was not significant. 2) The average A/N ratio by age groups from 117 cases of T&A patients showed: 0.709 for age group, 0 to 3 years old, 0.733 for age group, 4 to 6 years old, 0.693 for age group, 7 to 9 years old, 0.707 for age group, 10 to 12 years old, 0.620 for age group, 13 to 15 years old, 0.756 for age group over 15 years old. 3) Among the 117 cases of T&A patients, the average A/N ratio for 57 cases in normal tympanogram was 0.688 and the average A/N ratio for 60 cases in abnormal tympanogram was 0.705. 4) Among 57 cases in abnormal tympanogram: 6 cases (10.5%) showed 0.40-0.59 of A/N ratio, 44 cases (77.2%) showed 0.60-0.79 of A/N ratio, and 7 cases (12.3%) showed 0.80-0.99 of A/N ratio. 5) Among 117 cases of T&A patients, 3 of 15 cases showing A/N ratio under 0.6, and 67 of 102 cases showing A/N ratio over 0.6, had paranasal sinusitis.

• Korean Journal of Occupational Therapy
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• v.26 no.4
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• pp.57-72
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• 2018

Objective : This study aims to identify the self-reported driving abilities of elderly drivers and their correlations to the demographic factors that influence them, and to verify the adequacy of the hypothetical model, constructed based on vision, auditory, cognition, motor, and psychological factors, in order to present a path model on the self-reported driving abilities of elderly drivers. Methods : The participants in this study were 122 elderly drivers aged 65 years or older residing in the community. This study evaluated the following factors of the participants: Vision and hearing, motor ability, cognitive ability, depression, self-reported driving abilities. Results : The results of this study are as follows. In the case of men, the self-reported driving ability score was higher than for women, and those driving 6-7 days per week had higher scores than those driving 3 days or less. The period of holding a driver's license and driving experience positively correlated with self-reported driving abilities. The final model of factors influencing the self-reported driving abilities of elderly drivers had a p value (.911) exceeding .05; TLI (1.202), NFI (.949), and CFI (1.000) of over .90; and RMSEA (.000) of lower than 0.1, indicating that the hypothesis model fit the data well. First, the directly influential factors on the self-reported driving abilities of elderly drivers were depression, decreased hearing, and grip strength. Second, age was found to have a direct influence on depression and grip strength; moreover, depression and grip strength as a mediator indirectly influenced their self-reported driving abilities. Third, depression was found to have a direct influence on their delayed cognitive processing and grip strength. Conclusion : The significance of this study is in the identification of direct and indirect factors influencing the self-reported driving abilities of elderly drivers in regional communities, and in the verification of multi-dimensional effects of diverse factors influencing such abilities.

• 한국노년학
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• v.40 no.4
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• pp.729-746
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• 2020

For the development and better use of information and communication technology(ICT) for promoting health and quality of life in older people, it is important to understand personal factors associated with ICT use. The aims of this study were to describe the pattern of ICT use according to health characteristics of elderly and to investigate significant factors related to ICT use among three age groups. The data of 2017 National Survey of Older Koreans was used for analysis and 10,058 of older adults aged 65 and over were included for study participants. As results, first, the young old(65~74) used more functions of ICT than the middle-old(75~84) and the old-old(85 and over). Second, ICT was more used among older people with good conditions in chronic disease, subjective health, cognition, depression, vision, hearing, walking and IADL. Third, higher prevalence of ICT use was significantly associated with age, education, household income, subjective health, depression, cognitive function, vision limitation and walking limitation. Fourth, factors influencing the use of ICT were a little different among three age groups. For the young-old(65~74), subjective health, depression, cognitive decline, walking limitation, and IADL disability were significant factors affecting on ICT use. For the middle-old(75-84), subjective health, depression, cognitive decline, vision, hearing, and walking limitation were related with their ICT use. For the old-old(85 and over), only cognitive function and depression were associated with their ICT use. Based on these results, this study suggested the need to consider multiple health conditions for developing and using ICT for older adults.

• The Journal of the Acoustical Society of Korea
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• v.28 no.6
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• pp.534-541
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• 2009

Word recognition test (WRT) for the children can be useful for diagnosing the degree of communication disability, prescribing hearing instruments, planning aural rehabilitation and speech therapy, and determination of site of lesions. The Korean standard monosyllabic word lists for preschoolers (KS-MWL-P) were developed considering the criteria given by the literatures. However, the authors of KS-MWL-P suggested more children should be included to verify homogeneity of the lists using psychometric function curve since only 8 children participated in the developing process. The purpose of this study was to explore the homogeneity of KS-MWL-P for supplementing the limitations of the lists employing psychometric analysis. To 23 preschoolers who have normal-hearing, 100 monosyllabic KS-MWL-P words were examined with the pictures. Psychometric function curve with linear slopes of 20% and 80%'s correct rates through accounting recognition scores of each monosyllabic word at variable intensities from -10 to 40 dBHL was obtained and analyzed. As a result, s-shaped psychometric function curve was presented with increasing correct rate depending on intensity and showed no statistical significant differences among each word and list. The congruous graph shapes among lists also indicated good homogeneity and the list 1,2,3,4's average slopes were 4.48, 3.86, 4.65, 4.50. It was verified that the homogeneity was suitable because the analysis of variance showed no statistical significance among lists (p>0.05). However, KS-MWL-P's order of slope according to the order of the number of items, $1{\sim}10$, $1{\sim}20$, $1{\sim}25$ showed no difference with the p-value of 0.93, 0.59, 0.91, 0.70 for the lists 1,2,3, and 4, respectively. Although KS-MWL-P was assumed that the lower-numbered items were easy for testing younger ages, this study's results could not agree with the author's conclusion. Considering this matter, rearranging of the number of items should be performed according to the analysis of slope suggested by this study for testing younger children with easier items. Other than this, in conclusion, KS-MWL-P was proved to be useful for clinical and rehabilitative evaluating and training tools for preschoolers.

• Radiation Oncology Journal
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• v.28 no.4
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• pp.193-204
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• 2010

Purpose: To analyze the treatment outcomes, complications, prognostic factors after a long-term follow-up of patients with nasopharyngeal carcinoma treated with radiation therapy (RT) alone or concurrent chemoradiation therapy (CCRT). Materials and Methods: Between December 1981 and December 2006, 190 eligible patients with non-metastatic nasopharyngeal carcinoma were treated at our department with a curative intent. Of these patients, 103 were treated with RT alone and 87 patients received CCRT. The median age was 49 years (range, 8~78 years). The distributions of clinical stage according to the AJCC 6th edition included I: 7 (3.6%), IIA: 8 (4.2%), IIB: 33 (17.4%), III: 82 (43.2%), IVA: 31 (16.3%), IVB: 29 (15.3%). The accumulated radiation doses to the primary tumor ranged from 66.6~87.0 Gy (median, 72 Gy). Treatment outcomes and prognostic factors were retrospectively analyzed. Acute and late toxicities were assessed using the RTOG criteria. Results: A total of 96.8% (184/190) of patients completed the planned treatment. With a mean follow-up of 73 months (range, 2~278 months; median, 52 months), 93 (48.9%) patients had relapses that were local 44 (23.2%), nodal 13 (6.8%), or distant 49 (25.8%). The 5- and 10-year overall survival (OS), disease-free survival (DFS), and disease-specific survival (DSS) rates were 55.6% and 44.5%, 54.8% and 51.3%, in addition to 65.3% and 57.4%, respectively. Multivariate analyses revealed that CCRT, age, gender, and stage were significant prognostic factors for OS. The CCRT and gender were independent prognostic factors for both DFS and DSS. There was no grade 4 or 5 acute toxicity, but grade 3 mucositis and hematologic toxicity were present in 42 patients (22.1%) and 18 patients (9.5%), respectively. During follow-up, grade 3 hearing loss in 9 patients and trismus in 6 patients were reported. Conclusion: The results of our study were in accordance with findings of previous studies and we confirmed that CCRT, low stage, female gender, and young age were related to improvement in OS. However, there are limitations in the locoregional control that can be achieved by CCRT with 20 conventional radiation therapy. This observation has led to further studies on clarifying the efficacy of concurrent chemotherapy by intensity modulated radiation therapy.

• Journal of dental hygiene science
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• v.15 no.5
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• pp.603-611
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• 2015

This research is aimed at cutting off hearing loss and other harmful factors due to noise and providing basic material for noise reduction plan. As the research method, this research assessed noise by measuring acoustic pressure level and frequency in various situation of non-treatment and treatment. As the measurement result, average noise degree of high speed handpiece of non-treatment, ultrasonic waves scaler, and low speed handpiece showed 58~66 dB(A). Average noise degree of scaling of treatment, tooth elimination, and denture adjust showed 73~81 dB(A). The result is inferior to recognized standards of noise induced hearing loss. But the result of assessing this with (noise rating) NR curve was NR-73~78, which exceeded general workplace noise standard. This level can cause hearing loss when exposed to a long time. Therefore, treatment office noise during dental treatment can cause psychological and physical damage in dental clinic employees, and it is urgently required to establish systematic and active noise reduction plan.

• Journal of Preventive Medicine and Public Health
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• v.32 no.1
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• pp.17-29
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• 1999

Objectives. This study was carried out to analyze the hearingthreshold levels and relating factors of 1,048 workers with noiseinduced hearing loss$(D_1)$. Methods. We analyzed the hearing-threshold levels and relating factors of 1,048 workers with noise-induced hearing loss$(D_1)$ examined by the summary reports of specific health examination results of industries and personal reports of specific health examination results reported by 58 specific health examination institutes and 8 secondary pneumoconiosis examination institutes in 1996. Results. Among 1,048 workers at 510 workplaces, male workers were 1,009 (96.3%) and female workers were 39 (3.7%). The mean ages of workers initially exposed to noise and at present were 28.7 and 47.2, respectively. The duration of total exposure was 16.5 years. Average hearing-threshold levels analyzed by three-divided classification of the study subjects were 43.7dB(Lt) and 42.6dB(Rt). Those analyzed by six-divided classification were 50.5dB(Lt) and 48.6d8(Rt). Among workers with noise-induced shearing loss$(D_1)$, 16.3% was unilateral hearing loss and 84.6% was classified to compensation case. 8.8%(Rt) and 10.2%(Lt) of them were suspected to be conductive hearing loss by differences of air-bone hearing-threshold levels. Hearing-threshold levels of workers in manufacturing industry were significantly increased during the short exposure compared with the levels in mining industry. Among manufacturing industries, hearing-threshold levels of workers in trailer and other transportation equipment manufacturing industry were significantly increased. Age and duration of total noise exposure were not significantly related to the average hearing-threshold levels analyzed by three-divided classification. Hearing-threshold levels of female workers were significantly increased during the short exposure compared with those of male workers. Hearing-threshold levels of workers at the high risk group, ages of 20s, 30s and total exposure duration of less than 10 years, were not significantly increased compared with those of the other groups. However, they were exposed at young ages. The 3 leading industries of workers at high risk group were trailer and other transportation equipment manufacturing, automobile manufacturing and assemble-metal manufacturing industries. Conclusions. This study was the first nationwide analysis of the hearing-threshold levels and relating factors of workers with noise. induced hearing loss$(D_1)$. We found the differences of the real number by the statistics of the department of labour and the expected number of worker' s compensations for occupationally-induced hearing loss estimated by this study. According to the results of this study, we should carefully examine the methods to narrow this difference.

• Journal of Biomedical Engineering Research
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• v.19 no.6
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• pp.623-629
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• 1998

To provide sufficient sound to the hearing-impaired person(HIP) who have many difficulty in communication with others using general telephone, big amplification is needed. But big amplification can occur howling as a side effect. In this study we developed the new technique of big amplification without howling, manufactured and estimated the new hearing aid telephone. Telephone speech is divided to three frequency band, amplified respectively and fitted to HIP's hearing ability. The telephone speech frequency is monitored by counter in time domain. The counter transfers the sinusoidal sound to rectangular wave using comparator and counts the number of rectangular wave in a certain time period, that is frequency, to monitor the howling. Telephone have microphone and speaker, which are fitted in a rigid structure and frequency band of telephone sound is limited, so howling occurs in the limited frequency band. If the counter notices that howling conditions happen, microprocessor decreases quickly the gain of the related frequency band. The result of test of our new hearing aid telephone showed that we can amplifiy the sound as much as 40dB, which is meaningful level to many HIP, and make HIP increase their perception ability from 20% to 60.8% in 1 syllable test and from 28.9% to 78% in 2 syllable test.