• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.11 no.1
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• pp.20-27
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• 2000

To determine what is the change of pre and postoperative voice and image analysis parameters and correlations between them, videostroboscopy was analyzed in each 18 patients with unilateral vocal cord paralyses or vocal polyps before and after the surgery from November, 1996 to April, 1999. The correlation between acoustic and aerodynamic parameters was investigated. The software-Videolink and $\pi$-View(Mediface Co, Seoul, Korea)-was used in a quantitative analysis. In unilateral vocal cord paralysis, the glottic angle is well correlated with maximum phonation time, jitter and shimmer preoperatively. The postoperative glottic angle is also correlated with preoperative maximum phonation time. In patients with the vocal polyp, the chink is postoperatively decreased, but the size of the chink and the polyp is not correlated with pre and postoperative voice analysis parameters. These findings reveal that glottic an and vocal fold angle are good indicators of e postoperative glottic configuration in unilateral vocal cord paralysis. Vocal fold ratio is also a useful indicator that represents the length of vocal folds. We consider that the computerized analysis through videostroboscopy is one of objective diagnostic methods in many voice disorders if we can measure a distance between the telelaryngoscope and vocal folds.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.20 no.1
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• pp.47-51
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• 2009

Background and Objectives: Intracordal cysts may occur secondary to voice abuse and overuse or may be secondary to a remnant of epithelium trapped within the lamina propria. They may occur spontaneously or may be associated with poor vocal hygiene. As the cyst enlarges it can start to significantly affect the vibratory region of the vocal fold. With the advancement of the microsurgical technique and the laryngeal stroboscopy, correct diagnosis of intracordal cyst have been increased. The aims of this study is to review the important clinical characteristics of the intracordal cyst. Materials and Methods: In the present study, 212 cases of the intracordal cysts were treated by the microsurgical technique. These lesions were diagnosed before the operation with indirect laryngoscopy, laryngeal endoscopy, laryngeal stroboscopy and confirmed with the findings observed during operations and the results of the biopsies. Results : The intracordal cysts were 212 cases in the 4,20 I patients who underwent laryngeal microsurgery (5.04%). Ductal cysts were 156 cases and epidermoid cysts were 56 cases. The lesions are more frequent in women and anterior third of true vocal cord is more frequently involved site. With the preoperative laryngoscopic examination, the intracordal cysts were mostly misdiagnosed as other disease of the vocal cord such as vocal polyps or nodules. And main cause of intracordal cysts was thought of vocal abuse. From view of the surgical approach, Ductal cysts was difficult to remove completely than epidermoid cyst without cystic wall rupture. Conclusion : Intracordal cysts are very similar to the other mucosal disorders of the vocal cord and it may be misdiagnosed as vocal polyps or nodules, frequently. Therefore careful preoperative examinations for the vocal cord lesions with stroboscopy and other endoscopic instruments are important part of the correct diagnosis. An ideal treatment is enucleation of the cysts without rupture of the cystic wall or injury of the lamina propria. And marsupialization is meaningful to ductal cyst that cannot be enucleated completely.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1983.05a
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• pp.11.2-11
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• 1983

Vocal nodules and polyps are much more frequent in singers, public speakers, teachers and actors. Voice trauma and voice misuse, at times associated with mild inflammatory reaction, appear to be important in their etiology. It is generally agreed that vocal cord nodules and polyps are inflammatory in nature and they arise in the subepithelial layer of loose connective tissue of the vocal cord. Since the junction of anterior and middle thirds of the membranous cord and has the greatest amplitude of vibration. This is the site of predilection for vocal cord nodules. The author performed laryngomicrosurgery for 70 cases of vocal nodules and polyps at Ewha Womans University Hospital during the period of 5 years. The result obtained were as follows ; 1) Surgical excision is not necessarily the best approach because vocal nodules in the early stages will resolve with the simplest voice therapy. 2) In children, surgery is rarely indicated because most nodules in children regress during adolescence. 3) For patients who use their voices professionally, voice therapy is indicated for three months. 4) If after three month of conservative treatment the cord lesion does not improve and the patient it still dissatisfied with his voice, laryngomicrosurgery can then be considered. 5) The small cuffed endotracheal tube in the interarytenoid space helps to keep the cords immobile and in an abducted position. 6) Removal of the nodule shoule be started by gentle retraction posteriorly and as soon as a tear appears anterior to the nodule. 7) On occasion it is preferable to start the dissection with a siccle knife while the nodule is held on the stretch. 8) Voice rest should be maintained for a week following which the free edges of the cords are usually healed.

• Proceedings of the KSLP Conference
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• 1999.11a
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• pp.180-180
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• 1999

배경 : 음성평가시 그 음질을 파악하기 위한 검사 중 주관적 검사로서 많이 쓰이는 것은 GRBAS 척도에 의한 청인지적 4단계 평정이고, 객관적 검사로서 널리 쓰이고 있는 검사 도구는 CSL 중 MDVP이다. 이중 GRBAS 검사는 평가자의 고도의 숙련도를 요구하며, MDVP에 의한 음성평가는, 나타난 결과에 대한 정확한 해석을 요구한다. 목적 : 이에, 1차적으로 음성과용 환자를 대상으로 하여, GRBAS 척도에 의한 청인지적 음성평가 결과와 CSL 중 MDVP에 의한 객관적 음성평가 결과에 대한 상관성을 비교, 분석해 보고, 이를 통하여 청인지적 음성평가에 숙련되지 못한 평가자가 객관적 검사도구를 통하여 음성평가를 하고자 할 때 주목해야 할 변인들에 관하여 알아보고자 한다. (중략)

• The Korean Journal of Medicine
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• v.93 no.6
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• pp.532-537
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• 2018

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.101-109
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• 2015

Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.

• Proceedings of the KSLP Conference
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• 2009.03a
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• pp.18-18
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• 2009

• 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.16 no.1
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• pp.10-17
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• 2016

The 3-methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of several inborn errors of metabolism characterized by increased urinary excretion of 3-methylglutaconic acid. In most cases, 3-MGA is only slightly increased and combined with other metabolites. However, repeated and significant excretion of 3-MGA (40->1,000 mmol/mol creatinine) is a hallmark of the disorders of 3-MGA-urias. There have identified five distinct types of disorders: inborn errors of leucine metabolism and four disorders of mitochondrial dysfunction through different mechanism. The range of clinical and biochemical findings in this condition is variable. In the patients with 3-methylglutaconyl-CoA hydratase deficiency, increased 3-hydroxyisovaleric acid is useful in the differential diagnosis. Other forms of 3-MGA-urias are welldefined clinically such as Barth syndrome, Costeff syndrome, TMEM 70 defect, MEGDEL syndrome, and DCMA syndrome. We provide an overview of the expanding clinical spectrum and differential diagnosis of the 3-MGA-urias.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.155-159
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• 2015

Citrin deficiency (OMIN #605814) is an autosomal recessive disorder caused by the SLC25A13 gene mutation with abnormal biochemical findings, including increased serum ammonia, citrulline, arginine, galactose, serum threonine-to-serine ratio, serum pancreatic secretory trypsin inhibitor, and alpha-fetoprotein. Citrin deficiency can manifest in three ways: in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as citrullinemia type 2 (CTLN2) with recurrent hyperammonemia and neuropsychiatric symptoms. We report a 35-day-old asymptomatic patient with citrin deficiency who had abnormal biochemical findings.