• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.54-59
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• 2014

Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.60-65
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p. G303R) mutations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.191-194
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• 2014

Mitochondrial myopathy results from a primary dysfunction of the respiratory chain and is frequently accompanied with endocrine manifestations. Among the endocrine manifestations of mitochondrial disease, diabetes mellitus is relatively common. Diabetes mellitus in the mitochondrial myopathy is usually insulin dependent due to the defect in insulin secretion resulted from mitochondrial dysfunction. But it is seldom manifested as diabetes ketoacidosis and doesn't usually have an auto-antibody. We report a patient with mitochondrial myopathy who was diagnosed as having diabetes mellitus by presenting as diabetes ketoacidosis and had both of the auto-glutamic acid decarboxylase (GAD) antibody and anti-insulin auto-antibody.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.178-181
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• 2014

Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.62-68
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• 2013

우리나라의 경우 희귀질환은 국내 유병인구가 2만명 이하로 드물게 나타나는 질환으로 적절한치료 방법과 대체의약품이 개발되지 않은 병을 말한다. 희귀의약품은 대상 환자 수가 적어 연구개발이 어렵고 시장에서 수익성을 기대하기 어려워 제약기업이 쉽게 개발할 동기를 갖기 어렵기 때문에 선진국에서는 희귀의약품의 개발을 촉진하기 위한 제도를 운영하고 있다. 국내에서도 희귀질환자들에게 치료기회를 확대 제공하기 위한 일환으로, 1999년 정부의 적극적인 지원하에 한국희귀의약품센터가 설립되었다. 한국희귀의약품센터는 적용대상이 드물고 대체의약품이 없어 긴급한 도입이 요구되는 의약품 및 희귀질환자 치료용 약품의 구입공급과 제반 정보의 수집 및 제공을 함으로써 국민의 건강증진에 기여하고 있다. 한국희귀의약품센터의 주요 역할은 희귀의약품 및 희귀질환에 대한 최신정보를 수집 분류 데이터베이스화하여 이를 희귀의약품의 수요자 및 공급자 등 필요로 하는 자에게 제공하고 있으며, 특히 적용 대상이 드물고 대체의약품이 없어 긴급하게 도입할 필요가 있는 의약품 및 희귀질환자 치료용 의약품에 대하여 자가 치료용 의약품의 수입추천 안내 및 수입대행, 희귀의약품의 지정추천업무 등을 수행하고 있다. 희귀의약품 지정에 관한 규정은 1998년 4월 16일에 식품의약품 안전처에서 고시하였으며 2013년 2월에 식약처에서 고시 제 2013-8호로 개정하였다. 개정 이유는 지속적인 투자, 연구 개발이 필요한 희귀의 약품의 개발을 활성화하고 지정 한도액을 상향하는 등 희귀의약품 지정제도 개선하고자 하는 것이다. 이번 개정의 주요 내용은 개발 초기부터 '개발단계 희귀의약품' 지정하고 지정 갱신을 위해 별도 생산(수입)실적 보고를 폐지하며, 위탁제조판매업자의 희귀의약품 지정 신청을 가능하게 하고, 유병인구 500명 이하인 경우 지정한도 금액 상향 등이다. 이번 개정을 통해 희귀의약품에 대한 연구 개발이 더욱 확대 될 것으로 기대하며, 앞으로도 희귀질환 환자들에게 원활하게 희귀의약품이 공급되도록 지원 정책이 추진되어야 할 것이다.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.1
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• pp.15-23
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• 2021

Background and Objectives During speech, the vocal folds oscillate at frequencies ranging from 100-200 Hz with amplitudes of a few millimeters. Mechanical stimulation is an essential factor which affects metabolism of human vocal folds. The effect of mechanical vibration on the cellular response in the human vocal fold fibroblasts cells (hVFFs) was evaluated. Materials and Method We created a culture systemic device capable of generating vibratory stimulations at human phonation frequencies. To establish optimal cell culture condition, cellular proliferation and viability assay was examined. Quantitative real time polymerase chain reaction was used to assess extracellular matrix (ECM) related and growth factors expression on response to changes in vibratory frequency and amplitude. Western blot was used to investigate ECM and inflammation-related transcription factor activation and its related cellular signaling transduction pathway. Results The cell viability was stable with vibratory stimulation within 24 h. A statistically significant increase of ECM genes (collagen type I alpha 1 and collagen type I alpha 2) and growth factor [transforming growth factor β1 (TGF-β1) and fibroblast growth factor 1 (FGF-1)] observe under the experimental conditions. Vibratory stimulation induced transcriptional activation of NF-κB by phosphorylation of p65 subunit through cellular Mitogen-activated protein kinases activation by extracellular signal regulated kinase and p38 mitogen-activated protein kinases (MAPKs) phosphorylation on hVFFs. Conclusion This study confirmed enhancing synthesis of collagen, TGF-β1 and FGF was testified by vibratory stimulation on hVFFs. This mechanism is thought to be due to the activation of NF-κB and MAPKs. Taken together, these results demonstrate that vibratory bioreactor may be a suitable alternative to hVFFs for studying vocal folds cellular response to vibratory vocalization.

• Phonetics and Speech Sciences
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• v.15 no.1
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• pp.35-45
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• 2023

Tohoku Japanese is known to have voiced stops without pre-voicing in word-initial position, whereas traditional or conservative Japanese has voiced stops with pre-voicing in the same position. One problem with this devoicing of voiced stops is that it affects the distinction between voiced and voiceless stops because their voice onset time (VOT) values overlap. Previous studies have confirmed that Tohoku speakers use post-stop fundamental frequency (F0) as an acoustic cue along with VOT to avoid overlap. However, the role of post-stop F0 as a perceptual cue in this region has barely been investigated. Therefore, this study explored the role of post-stop F0 in stop voicing perception along with VOT. Several perception tests were conducted using resynthesized stimuli, which were manipulated along a VOT continuum orthogonal to an F0 continuum. The results showed no significant regional difference (Tohoku vs. Chubu) for nonsense words (/ta-da/). However, for meaningful words (/pari/ 'Paris' vs. /bari/ 'Bali,' /piza/ 'pizza' vs. /biza/ 'visa'), a significant word effect was found, and it was confirmed that some listeners utilized the post-stop F0 more consistently and steadily than others. Based on these results, we discuss innovative listeners who may lead the change in the perception of stop voicing.

• Journal of the Korean Society of Manufacturing Process Engineers
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• v.10 no.5
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• pp.7-12
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• 2011

This study covers the optimum design of the 5-axis machine tool. In addition, the intelligent control secures structural stability through the optimum design of the structure of the 5-axis machine center, main spindle, and the tilting index table. The big requirement, like above, ultimately leads to speed-up operation. And this is inevitable to understand the vibration phenomenon and its related mechanical phenomenon in terms of productivity and its accuracy. In general, the productivity is correlated with the operation speed and it has become bigger by its vibration scale and the operation speed so far. Vibration phenomenon and its heat-transformation of the machine is naturally occurred during the operation. If these entire machinery phenomenons are interpreted through the constructive understanding and the interpretation of the naturally produced vibration and heat-transformation, it would be very useful to improve the rapidity and its stability of the machine operation indeed. In this dissertation, the problems of structure through heating, stability, dynamic aspect and safety about intelligent 5-wheel machine tool are discovered to examine. All these discoveries are applied to the structure in order to enhance the density of it. It aims to improve the stability.

• Journal of the Korean Society of Manufacturing Process Engineers
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• v.19 no.7
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• pp.98-105
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• 2020

This study deals with the passive control of the dynamic characteristics of a theoretical model which is a string with fixed ends and loaded by two point masses - a main mass (M_o) and a secondary mass (M_s). It has been controlled passively by means of a relocation of a secondary mass. A main mass placed on the string is considered as a vibrating receiver which be forced to vibrate by a vibrating source being positioned on the string. By analyzing the motion of a string, the equation of motion for a string was derived by using a method of variation of parameters. To define the optimal conditions for the vibration reduction, the governing equation, which denotes the dynamic response of a string was derived in the closed form and then evaluated numerically. The possibility of reduction of an amplitude and a power being transmitted to a main mass were found to depend on the location and the magnitude of a secondary mass as well as the range of a forcing frequency.