• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.1
• /
• pp.18-23
• /
• 2016

Objective: Newborn screening leads to improved treatment and disease outcomes, but false-positive newborn screening results may impact include parental stress and anxiety, perception of child as unhealthy, parent-child relationship dysfunction, and increased infant hospitalizations. The purpose of this study was to investigate of the false positive rates and the causative factors of false positive results in Tandem Mass Spectrometry (TMS) in single center. Methods: Records were reviewed for all 18,872 subjects who were born in Cheill General Hospital, during January 1st, 2012 to December 31st, 2014. 17,292 neonates (91.62%) were tested for tandem mass screening almost in 2-5th day of life. Newborn babies whose first results were abnormal had been tested repeatedly by same methods in 7-14 day. If the results were abnormal again, further evaluation was performed. TMS analysis included data for the 43 disorders screened for using TMS broken down into three categories: fatty acid oxidation disorders, organic acidurias, and aminoacidopathies. The impact of several factors on increased false positive rates was analyzed using a multivariate analysis: time from birth to sample collection, birth weight, birth height, BMI, gender, gestational age, delivery type. Results: Males of the subjects were 8942 (51.7%), female 8350 (48.3%), the mean gestational age was $38.6{\pm}1.7$ weeks, the average birth weight $3,155.6{\pm}502.4g$, the average birth height $49.1{\pm}2.9cm$, and the average BMI $13.0{\pm}3.8(kg/m^2)$. Vaginal delivery cases were 9713 (56.2%), caesarean section 7,579 (43.8%). The average date of the inspection was $2.8{\pm}1.1$ days. 224 cases were identified as TMS positive. All the subjects were false positive (222/17,292, 1.30%) except 2 cases (1 male; benign phenylketonuria and 1 female; Short chain acyl-CoA dehydrogenase deficiency). The false positive rates were 0.61% in fatty acid oxidation disorders, 0.25% in organic acidurias, and 0.45% in aminoacidopathies. In our study, the date of inspection got late, the false positive rates got higher. Because almost the cases of late test date were in treatment in neonatal intensive care unit so their test date was affected by their medical conditions. False positive rate was higher in extreme immaturity${\leq}27$ weeks than newborns of gestational age >27 weeks [OR=6.957 (CI=1.273-38.008), p<0.025] and extremely low birth weight<1,000 g than newborns of birthweight ${\geq}1,000g$ [OR=5.616 (CI=1.134-27.820), p<0.035]. Conclusion: False positive rate of TMS was 1.30% in Cheil General Hospital. Lower gestational age and birth weight impacted on increased false positive rates. Better understanding of factors that influence the reporting of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting. of screening tests, and the ability to modify these important factors, may improve the screening process and reduce the need for retesting.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
• /
• v.12 no.1
• /
• pp.22-27
• /
• 2001

Backgrounds and Objectives : There have been reported many studies which evaluate the effectiveness of combined laryngomicrosurgery(LMS) and voice therapy for the patients with benign vocal cord lesions. But the difference of voice improvement by onset time of voice therapy has not been reported. The purpose of this study is to analyze the differences of voice improvement by voice analysis test between the two groups with different onset time of voice therapy. Materials and Methods : Two groups, each of which comprises 15 patients, were analyzed. For the one group, the voice therapy was initiated 1 day after LMS. For the other, the therapy was initiated 1 week after LMS. Voice analytic parameters of the two groups were statistically analized to identify difference in voice improvement. Results : All measured parameters improved after voice therapy in two groups and showed no significant difference between two groups. Conclusions : The onset time of voice therapy after LMS has no significant impact on post-operative voice quality in the patients with benign vocal cord lesions. Early onset of post-operative voice therapy may serve as treatment modality for patients with benign vocal cord lesions.

• Proceedings of the IEEK Conference
• /
• 2000.09a
• /
• pp.955-958
• /
• 2000

본 논문은 음성신호를 이용해 성대의 질환이 있는 환자를 진단하고 병명을 판별하게끔 유도하는 자동 진단 시스템을 개발하기 위한 연구의 일부로, 그중 ARS를 이용하여 환자의 음성을 수집, 분석, 식별의 실험에 대한 연구이다. 본 연구 팀에서는 이미 CSL을 이용한 장애음성 데이터의 수집과 식별에 관한 연구 결과를 발표한바 있다. 하지만 선행연구에서는 방음실에서 디지털 녹음기를 이용하여 수집한 음성을 사용했기 때문에, ARS를 통하여 녹음한 음성과는 샘플링 주파수나 대역폭, 잡음성분등의 데이터의 특성이 상당한 차이가 있다. 이러한 이유로 ARS를 통하여 녹음한 음성에 보다 적합한 파라미터 분석프로그램을 작성하여 파라미터를 구하였다. 이 파라미터들은 Kay사의 MDVP를 기초로하여 작성하였고, 대부분 80%정도의 신뢰성을 가졌다. 수집한 음성의 식별은 정상음성과 양성음성의 두가지 경우로 분리하였다. 식별기법으로는 신경망을 이용하였고, 식별파라미터는 구한 파라미터중 6개의 파라미터를 선별하여 식별한 결과 약 90%정도의 식별율을 가졌다.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1987.05a
• /
• pp.20.1-20
• /
• 1987

후두 유두종은 후두에서 발생하는 가장 흔한 양성종양이나 임상적으로는 이비인후과영역에서 치유하기 어려운 질환중 하나이다. 1817년 Cheesmann이 성대에서 발생한 유두종을 처음 보고한 이래 많은 보고가 있었으나 아직도 결정적인 치료법이 없는 실정이다. 연자는 수술적 제거후 재발을 방지할 목적으로 Interferon을 술후 7일간은 300,000IU을 매일 피하주사하고 이후는 주 3회에 걸쳐 주사하였으며 동시에 5-FU l00mg을 주 5회 국소분무요법으로 3개월간 병합 실시하여 치료후 평균 3개월 이상 관찰 결과 대상환자 10명중 6명에서는 전혀 재발이 없었고 2명은 현저한 감소, 2명은 재발의 양상을 나타내었다.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1983.05a
• /
• pp.5.2-5
• /
• 1983

It is well known that laryngeal papilloma is histopathological benign, but clinically one of the most troublesome disease in otolaryngologic department, usually seen in child age. Since Cleesmann reported papilloma of the vocal cord, 1817 first, the etiology had not been known exactly. The symptoms in children are dyspnea, dysphonia due to recurrence, and papilloma in adult can change into neoplasm. The papilloma is thought as real neoplastic lesion and there is not effective treatment, using now repeated removal and combined therapy. This report is based on the typical findings and progress of one case of laryngeal papilloma observed for the past 13 years with repeated removal and topical application of 5-FU at our department. Authors have experienced this subject is interesting that the change of the tumor region during the course than to any new therapeutic methods employed, and so report with some reviews of the literatures.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
• /
• v.13 no.1
• /
• pp.5-17
• /
• 2002

Objectives : Videostrobokymography(VSK) has been recently developed and reported by Sung et at. We aimed to analyze vibratory patterns and objective parameters in various benign vocal fold lesions using VSK, and examine the efficacy of VSK in clinical application. Materials and Methods : Using VSK, we analyzed the vibration pattern of normal vocal fold and various benign lesions, such as nodules, polyps, cysts, Reinke's edema and unilateral vocal fold paralysis. We also calculated objective parameters, open quotient and asymmetric index, and compared them with mean values of parameters in normal controls. Results : In nodules, polyps, and cysts, the open quotient on the site of the lesion was similar to the mean value in normal controls, however, on the other part of the vocal folds it was much larger than normal mean value. In Reinke's edema, irregular and asymmetric vibration was observed. The posterior portion of the vocal folds showed larger open quotients than the anterior portion. In the unilateral vocal fold paralysis, irregular vocal folds vibration and incomplete closure of the vocal folds were documented. Much larger asymmetric indices were calculated in the unilateral vocal fold paralysis than in normal controls and other lesions. The asymmetric index could be a good quantitative parameter of vibration from a patient with vocal fold paralysis. Conclusion : This study demonstrated that VSK could generate clear quantitative documentations of fine vibrations of vocal folds in many different benign lesions. VSK has a potential as an effective tool for quantitative analysis of vibratory patterns of the vocal folds iii clinical settings.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.1
• /
• pp.11-17
• /
• 2017

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.3
• /
• pp.141-147
• /
• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• Phonetics and Speech Sciences
• /
• v.10 no.4
• /
• pp.155-161
• /
• 2018

The purpose of this study was to evaluate the efficacy of a multiple voice therapy technique ($SKMVTT^{(R)}$) using laughter for the treatment of various benign vocal fold lesions. To achieve this, 23 female patients diagnosed with vocal nodules, vocal polyp, and muscle tension dysphonia through videostroboscopy were enrolled in vocal hygiene and $SKMVTT^{(R)}$. All of the patients were treated once a week for 4 to 12 sessions. The GRBAS scale was used to confirm the changes in voice quality before and after the treatment. Acoustic analysis was performed to evaluate jitter, shimmer, NHR, fundamental frequency variation, amplitude variation, PFR, and dB range. Videostroboscopy was performed to confirm the changes in the laryngeal features before and after the treatment. After the $SKMVTT^{(R)}$, the results of the perceptual evaluation demonstrated that the G, R, and B scales significantly improved. An acoustic evaluation also demonstrated that jitter, shimmer, NHR, vAm, vFo, PFR, and dB range also significantly improved after the $SKMVTT^{(R)}$. In comparison to the videostroboscopic findings, the size of the vocal nodules and vocal polyp decreased or disappeared after the treatment. In addition, the size of the cuneiform tubercles decreased, the length of the aryepiglottic folds became longer, and the laryngeal findings of the supraglottic compressions improved after the $SKMVTT^{(R)}$. These results suggest that the $SKMVTT^{(R)}$ is effective in improving the vocal quality of patients with benign vocal fold lesions. In conclusion, it seems that laughter and inspiratory phonation suppressed abnormal laryngeal elevation and lowered laryngeal height, which seems to have the effect of improving hyperfunctional phonation.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.28-36
• /
• 2022

Purpose: Detection of abnormal metabolites in plasma amino acid (PAA) and urine organic acid (UOA) analyses has been used to diagnose clinical mitochondrial diseases, such as Leigh syndrome. In this study, the diagnostic values and effectiveness of PAA and UOA analyses were reviewed. Methods: This was a retrospective study of patients with Leigh syndrome who were diagnosed between 2003 and 2018 in a single tertiary care center. Through a whole mitochondrial sequencing and nuclear DNA associated mitochondrial gene panel analysis, 19 patients were found to be positive for mitochondrial DNA (mtDNA) mutation-associated Leigh syndrome, and 57 patients were negative. Their PAA and UOA analyses results were then compared. Results: In the comparison of the PAA and UOA analyses results between the two groups, no abnormal metabolites showed obvious differences between the mtDNA mutation-positive Leigh syndrome and mtDNA mutation-negative Leigh syndrome groups. Conclusion: PAA and UOA analyses are inappropriate test methods for diagnosing Leigh syndrome or screening of mtDNA mutation-associated Leigh syndrome. However, UOA analysis might still be a suitable screening test for Leigh syndrome.