• Korean Journal of Head & Neck Oncology
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• v.12 no.2
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• pp.201-205
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• 1996

Early detection of glottic cancer, facilitated by rigid telescopes or flexible fiberoptic laryngoscope in addition to sparse true vocal cord lymphatics, makes this a highly curable tumor in its early stage. Early glottic cancer has a high cure rate with only radiotherapy or conservative surgery. However complications such as mucositis with radiotherapy and voice complications with conservative surgery has raised recent interest in endolaryngeal laser cordectomy. Laser cordectomy can preserve phonatory function and avoid the complications such as mucositis of radiotherapy. To determine the effectiveness of laser cordectomy, the authors made a two year retrospective study of 23 early glottic cancer cases. Fourteen cases(60.9%) who underwent 1 to 3 endoscopic laser cordectomy with KTP-532 laser were cured with this procedure alone. Seven cases needed an additional radiotherapy and three cases needed therapy with salvage operation. We conclude that the endoscopic laser surgery is a good strategy for the properly selected glottic cancer.

• Journal of Digestive Cancer Research
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• v.1 no.1
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• pp.6-16
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• 2013

Recent estimates for colon cancer incidence in Korea have been increased and continue to rank as the second most common in male and the third in female. Although colonoscopy has been known as the best screening tool for colon cancer, 20-25% of patients with colon cancer was diagnosed with stage IV cancer. During the past 10 years, intensive clinical studies helped to establish the value of palliative treatment for colon cancer with metastasis. The introduction of new chemotherapeutic agents such as irinotecan and oxaliplatin has led to a significant increase in tumor response and median survival. In advanced colon cancer, impressive prolongation or overall survival can be achieved through sequential application of combined systemic chemotherapy. In addition, targeted manipulation of molecular tumor mechanisms with new substances such as monoclonal antibodies against the epidermal growth factor receptor or vascular endothelial growth factor shows promising effects. Progress in the systemic treatment of colon cancer is evident, not only because of the significant increase in life expectancy in advanced colon cancer.

• Journal of radiological science and technology
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• v.41 no.5
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• pp.505-509
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• 2018

VCP (Vocal Cord Paralysis) is rare but one of most serious complications related to endotracheal intubation. This report is a clinical experience of radiography and laryngeal EMG (Electromyography) assessment for the VCP. A 50-year-old woman with hoarseness, which was occurred after urethral diverticulum excision was examined by laryngoscopy. As a result of laryngoscopy, VCP was observed in left side of her vocal cord, and then recurrent laryngeal nerve damage was detected with additional CT (Computed tomography) scan and laryngeal EMG. After that, the vocal cord movement was recovered as normal state with regular conservative treatment for the 6 months.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.7-11
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• 2002

Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent form. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of in 3 cases isovaleric acidemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.89-97
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• 2013

Purpose: We retrospectively investigated individuals who hadbeen identified by neonatal screening as potential galactosemia patients to determine the etiology of galactosemia. Methods: One hundred fifty-three patients referred to Korea Genetics Research Center due to high galactose level detected by neonatal screening test between February 2005 and May 2013 were examined. Galactose and galactose-1-phosphate levels were measured by using a fluoro metric microplate reader. Lactose free diet was initiated immediately after confirmed by urine Clinitest. If reducing sugar was negative, we employed abdominal sonogram and echocardiogram to check for possible porto-systemic shunt. Results: Fifteen patients were diagnosed with galactosemia. One patient had galactokinase (GALK) deficiency; four had UDP galactose-4-epimerase (GALE) deficiency; two had citrin deficiency; and four had porto-systemic shunt. Two had unknown causes of galactosemia. Conclusion: In addition to genetic defects of GALT, GALK and GALE, citrin deficiency or porto-systemic shunt could also cause galactosemia. It is crucial to carry out differential diagnosis to determine the cause of galactosemia.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.1
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• pp.1-8
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• 2021

Human vocal cords vibrate as quickly as 100-250 times per second, so it is impossible to observe them with normal endoscopic diagnostic equipment. High-speed videolaryngoscopy (HSV) allows the visualization of non-periodic vibratory motion of vocal fold beyond the limitation of videostroboscopy. New developed post-processing methods that converts HSV to two-dimensional videokymography (2D VKG) using U-medical image-processing software can provide quantitative information on vocal fold mucosa vibration. Multifunctional laryngeal examination system is composed of 3 kinds of examinations such as HSV, 2D scanning digital kymography (2D DKG) and line scanning digital kymography (DKG). Evaluation of entire vocal cord vibratory pattern in each cord is possible using 2D DKG and a faster and more reliable quantitative information can be obtained. As this system is used in clinical and research, it is expected to bring much advances to the diagnosis of voice disorders. In this review, I will introduce the principles and advantages on examination of the vocal fold vibration, which is in the spotlight recently, and proceed with the literature review.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.9-14
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• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.1-7
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• 2023

Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.

• Journal of agricultural medicine and community health
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• v.34 no.1
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• pp.101-112
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• 2009

Objectives: Cattle slaughterhouse workers are known as the high risk group for the zoonoses. We surveyed the awareness of zoonoses among cattle slaughterhouse workers to suggest direction of education and public relations. Methods: We evaluated the epidemiological characteristics of zoonoses and the process of cattle slaughtering. We designed different questionnaires for the workers involved in slaughtering, the handlers of residual products, the inspectors and their assistants, and the grading testers and their assistants respectively. We visited 73 cattle slaughterhouses and 62 residual products handle houses across the country and conducted a questionnaire survey of the general characteristics and the awareness of zoonoses. The data collected was evaluated using the SPSS 17.0 statistical package. Results: The awareness rate of brucellosis, Q fever and Enterohemorrhagic Escherichia coli (EHEC) were 83.9%, 18.5%, 62.7% among cattle slaughterhouse workers. The awareness rate of zoonoses among the workers involved in slaughtering and the handlers of residual products was lower than other workers. The awareness rate of zoonoses tended to increase as the school career. In the correct awareness rate of the transmission of zoonoses, 'transmission by tick bite', 'person to person' and 'air transmission' were lower than other transmission items. The most common reason why cattle slaughterhouse workers think that it is difficult to prevent zoonoses was the ignorance of how to prevent. Conclusions: An educational program is needed for the cattle slaughterhouse workers on zoonoses especially Q fever. And publicity activities about prevention of infection are needed for high risk groups.