• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.44-48
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• 2015

Mucopolysaccharidosis (MPS) IIIA is a lysosomal storage disorder caused by abnormalities of the enzyme Heparan N-sulfatase that is required for degradation of heparan sulfate. The patient in this study was a 5 year-old boy who presented with macrocephaly and developmental delay. Urinary excretion of glycosaminoglycan was increased (26 g/moL creatinine, reference range: <7 g/moL creatinine) and a distinct band of heparan sulfate was shown in electrophoresis. Heparan N-sulfatase activity was significantly decreased in skin fibroblasts (0.2 pmoL/min/mg protein, reference range: 9-64 pmoL/min/mg protein). PCR and direct sequencing analysis of the SGSH gene showed compound heterozygous mutations: c.1040C>T (p.S347F) and c.703G>A (p.D235N). This is the first report for a Korean patient with MPS IIIA who was confirmed by biochemical investigation and molecular genetic analyses.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1979.05a
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• pp.7.2-8
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• 1979

The tests related to air usage are valuable for evaluating phonatory function of clinical cases having glottic incompetence. Measurement of mean air flow rate, maximum phonation time and phonation quotient are important test for voice disorder. Stroboscopy is very useful for clinical evaluation of abnormality in the mode of vocal cord vibration. Author obtained following clinical result from 56 cases of laryngeal disorders in Kurume medical school in Japan. 1) Unilateral laryngeal lesions, are 35 cases (62.5%) and bilateral laryngeal lesions are 21 cases (37.5%). 2) Sex ratio is 39 cases (69.8%) of male and 17 cases (30.2%) of female. 3) In maximum phonation time below 10 seconds are 26 cases (46.4%) and above 10 seconds are 30 cases (53.6%). 4) In phonation quotient below 300 ml/sec are 33cases (58.9%). and above 300ml/sec are 23 cases (41.0%). 5) In mean air flow rate below 300ml/sec are 37 cases (66.1%) and above 300ml/sec are 19 cases (33.9%). 6) Symmetry of vibratory movement of the vocal cord, regularity of vibration, amplitude of vibration, wave on the mucosa and glottic closures are observed by stroboscopic examination. 7) Postoperative voice test and stroboscopic examination revealed good result in compare pre-operation with post-operation.

• Proceedings of the KSLP Conference
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• 1994.06a
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• pp.93-100
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• 1994

애성은 후두질환 특히 성대의 질환으로 인하여 소리의 구성요소인 음질(음색), 높이 세기(크기) 및 지속시간등에 이상이 있는 것을 말하며 그 정도의 성질은 여러 가지가 있으나 이것을 여러 방법으로 분류하는 것은 애성의 "메카니즘"을 알기 위해서도, 또 애성의 치료 효과를 알기 위해서도 유익하며 필요하다. 이제까지는 애성은 단지 주관적으로, 애성 (+), (++), (+)등으로 기록하여 왔으나 애성을 잘 들으면 보다 많은 진단에 도움이 되는 정보가 포함되어 있는 것을 알 수 있다. 이런 것을 상세하게 판정하여 기재하는 것은 장애의 진행, 개선, 수술후의 경과 등을 알기 위해서 임상상 크게 참고가 된다. (중략)

• Proceedings of the Korean Vacuum Society Conference
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• 2003.02a
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• pp.161-161
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• 2003

• Proceedings of the KSLP Conference
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• 1996.11a
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• pp.78-78
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• 1996

기식성 애성을 객관적으로 평가할 수 있는 음향지표는 아직 많은 연구가 되어 있지 않고 단지 청각심리검사에 의존하고 있는 실정이다. 본 저자들은 컴퓨터음향분석의 한 지표로서 기식성 애성에 대한 객관적인 음향지표로 이용될 수 있는 Multi-Dimensional Voice Program(mode1 4305, Kay Elemtrics Corp, USA)의 VTI(voice turbulance index)를 정상인과 성대병변 환자에서 비교 분석함으로써 기식성 애성의 객관적인 음향지표로서의 유용성을 확인하고자 하였다. (중략)

• Proceedings of the KOR-BRONCHOESO Conference
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• 1993.05a
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• pp.72-72
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• 1993

Among the various diagnostic methods for the voice disorders, video laryngo-stroboscopy is one of the most practical techniques for clinical examination of the vocal fold vibration. It provides valuable informations about the nature of vocal folds' vibration, the extent of pathologic change and data recording for analysis. To obtain the stroboscopic characteristics of several voice disorders, and apply those informations to the diagnosis and management of disorders, we reviewed the stroboscopic findings obtained from the patients with voice disorders at Voice laboratory, the Institute of Logopedics and Phoniatrics form April 1992 to March 1993.

• Proceedings of the KSLP Conference
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• 1997.11a
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• pp.251-251
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• 1997

목적 : 발성훈련을 받지 않은 각각의 직업적 음성 과사용집단의 음성분석에 대한 연구는 많이 보고되었지만, 이들 집단간의 음성분석을 통하여 각 집단의 음성문제를 비교한 연구는 미흡하다. 따라서 발성훈련을 받지 않은 직업적 음성 과사용집단의 음성 증상 및 음향학적 분석결과를 정상인과 비교함으로써 각 집단간 음성장애의 양상에 대하여 알아보고자 하였다. 대상 및 방법 : 음성장애에 대한 설문조사, 음향적 분석 및 성대화상술검사를 통하여 직업적 음성 과사용집단으로 분류되는 목사, 여자 교환수 및 고교 남녀교사를 증상 및 이학적 검사상 음성장애 소견을 보이지 않는 성인 남녀와 비교하였다. (중략)

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.174-177
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• 2014

Isolated methylmalonic acidemia (MMA) is a group of autosomal recessive inborn errors of metabolism caused by impaired activity of methylmalonyl-coenzyme A mutase (MCM). Mutations in the gene encoding MCM (MUT ) is the most common cause of isolated MMA. In this report, we identify an asymptomatic 15 days old female who had elevated C3-acylcarnitine (C3) in the newborn screening. Her serum homocysteine was normal and urine methylmalonic acid was increased that suggested isolated MMA. She was maintained on a low-protein diet and carnitine supplementation. At 3 months of age, she was still asymptomatic and had normal growth. We analyzed MUT gene mutations. Two heterozygote mutations in the MUT gene were identified including c.323G>A and c.1672+2T>C (IVS8(+2)T>C. Among these, c.1672+2T>C (IVS8(+2)T>C) have not been described previously.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.10 no.1
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• pp.27-30
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• 2010

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal-recessive inborn error of leucine catabolism caused by the deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC). With the introduction of tandem mass spectrometry in newborn screening, this disorder has been identified with unexpectedly high prevalence. The clinical manifestations of 3-MCCD are highly variable ranging from asymptomatic to severe neurological manifestations. 3-MCC is an heteromeric enzyme consisting of ${\alpha}$ - and ${\beta}$ - subunits, encoded by the MCCC1 and the MCCC2 gene, respectively. In the currentreport, a Korean patient with 3-MCCD is described. She was identified by newborn screening test, and has been asymptomatic with normal development and intelligence up to 3.8 years of age. She carries p.[D280Y]+[D280Y] mutations in the MCCC2 gene.

• Journal of Biomedical Engineering Research
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• v.25 no.5
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• pp.343-349
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• 2004

Electroglottograph(EGG) is a signal recorded from the vocal cord vibration by measuring electrical impedance across the vocal folds through the neck skin. The purpose of this study was to develop EGG system and to evaluate possibility for the application on speech analysis and laryngeal disease diagnosis. EGG system was composed of two pairs of ring electrodes, tuned amplifier, phase sensitive detector, low pass filter, and auto-gain controller. It was designed to extract electric impedance after detecting by amplitude modulation method with 2.7MHz carrier signal. Extracted signals were transmitted through line-in of PC sound card, sampled and quantized. Closed Quotient(CQ), Speed Quotient(SQ), Speed Index(SI), fundamental frequency of vocal cord vibration(F0), pitch variability of vocal fold vibration (Jitter), and peak-to-peak amplitude variability of vocal fold vibration(Shimmer) were analyzed as EGG parameters. Experimental results were as follows: the faster vocal fold vibration, the higher values in CQ parameter and the lower values in SQ and SI parameters. EGG and speech signals had the same fundamental frequency. CQ, SQ, and SI were significantly different between normal subjects and patients with laryngeal cancer. These results suggest that it is possible to implement portable EGG system to monitor the function of vocal cord and to test functional changes of the glottis.