• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.92-95
• /
• 2017

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an ${\alpha}$-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the ${\alpha}$-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late $4^{th}$ decades showing improvement of acroparesthesia during enzyme replacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient's brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of acroparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.

• Pediatric Infection and Vaccine
• /
• v.13 no.2
• /
• pp.130-136
• /
• 2006

Purpose : The purpose of this study is to confirm the epidemiologic change of the causative organisms of neonatal and pediatric bacterial meningitis in Korea. And we tried to evaluate the risk factors correlated with prognosis which was available on the day of admission. Methods : Retrospectively, we reviewed the medical records of 57 patients admitted for bacterial meningitis at six hospitals affiliated with Catholic Medical Center for 6 years(Jan. 2000~Dec. 2005). Results : 22 cases(38.6%) of them were neonates under 28 days and 35 cases were infants and children ; 16 cases(28.1%), under 1 year ; 6 cases(10.5%), under 5 years ; 13 cases (22.8%), under 15 years. In neonates, 16 cases(72.7%) were caused by group B streptococcus (GBS). In infants and children, S. pneumoniae(25.7%), H. influenzae type b(Hib)(22.8%) and N. meningitidis(22.8%) were common cause of bacterial meningitis in order. In the informations available on the day of admission, weight deficit for age under 3 percentile, increased CRP level and decreased glucose level of CSF were related to poor prognosis(P<0.05). Conclusion : GBS became a leading cause of neonatal bacterial meningitis. Though, pneumoccocal, Hib and meningococcal meningitis were confirmed as major causes of bacterial meningitis. The routine immunization of pneumococcal and Hib vaccines will be considered, and it is necessary to introduce meningococcal vaccines to our country in the future.

• Journal of the Ergonomics Society of Korea
• /
• v.31 no.6
• /
• pp.765-772
• /
• 2012

Objective: The purpose of this research was to aid creating an effective sizing system for the vacation wear intended for Jeju's medical tourists, specifically females from the major countries including the USA, Japan, and Korea. Background: Medical tourism makes the gains of every year 40,000,000,000 dollar, every year 30% it is increasing. Thus the Jeju-do is propelling medical tourism. The body size each country is different. Consequently must set the body size standard for the women. Method: (1) It observed the body size of the Korean women of 2004 years and 2010 years. (2) It analyzed the body size of the women of the USA, China, Japan and Korea. (3) It set the sizing system of the women of the USA(ASTM), China (GB), Japan(JIS) and Korea(KS). Results: Korean adult females' height in 2010 has increased from 2004. The Waist Back Length, Waist Front Length, Arm Length etc has also increased along with the Height. The upper body has become slimmer at the same time; the Chest Circumference, Bust Circumference, and Underbust Circumference have decreased. The lower body on the other hand has become bigger: the Waist Circumference and Hip Circumference have increased. The BMI has decreased by 0.4 from 2004 - the Height has increased while Weight has decreased. The Chest Circumference and Under Bust Circumference of Korean women across all age groups have increased at a proportional rate to other parts of body; however, the rate of increase in Chest Circumference was far greater. American females(Caucasians) had the greatest ratio of waist to bust (Waist Circumference/Chest Circumference), smallest ratio of Neck Base Circumference to Bust Circumference (neck/bust). Korean females had smallest ratio of Waist Circumference to Underbust Circumference(waist/bust). As for the drop of Chest Circumference and Waist Circumference, American females had the highest and Koreans had the lowest. As for the drop of Hip Circumference and Chest Circumference, Japanese had the highest and Americans had the lowest, but Japanese women at the same time showed the A line body shapes. As for difference of Chest Circumference and Underbust Circumference, American females had the biggest(13.73) followed by Korean(11.1), Japanese(10.9) and Chinese(10.5). Conclusion: The women of the USA, China, Japan and Korea body size is different. Especially the value of the Bust Circumference - the Underbust Circumference is different. Thus, it set the sizing system(Table 8).

• Pediatric Infection and Vaccine
• /
• v.24 no.2
• /
• pp.79-86
• /
• 2017

Purpose: This study was aimed at analyzing the serotypes of group B streptococcus (GBS) isolated from Korean infants with invasive disease and evaluating their association with disease manifestation. Methods: Data were retrospectively collected from invasive GBS infections at Gachon University Gil Medical Center from January 2006 to June 2012 and at Samsung Medical Center from April 2010 to November 2012. Serotypes were determined by slide agglutination test. Results: A total of 37 cases were identified, which included 22 full-term infants and 15 preterm infants. Fifteen cases (40.5%) were early-onset, 19 (51.4%) was late-onset, and three (8.1%) was very late-onset. Early-onset diseases among preterm infants were higher than those among full-term infants (60.0% [9/15] vs. 27.3% [6/22], P=0.17). The most common manifestation was bacteremia (70.3%), followed by meningitis and septic arthritis. Among 24 isolates retrievable for serotyping, serotype III (41.7%) was most common, followed by V (16.7%), Ia, Ib, and II (12.5%, respectively), and non-typeable (4.2%). Serotype III was more common in isolates from full-term infants (10/22) than from preterm infants (0/15), whereas serotype V was more common in isolates from preterm infants (4/15) than from full-term infants (0/22) (P=0.002). No penicillin-resistant strain was detected, and resistance to erythromycin and clindamycin were both 64.9%. Conclusions: GBS is an important pathogen in both preterm and full-term infants, and serotype distribution of GBS causing invasive diseases can differ between preterm and full-term infants. It is necessary to monitor the nationwide epidemiology of GBS diseases, including in preterm infants, in order to prepare preventive measures without underestimating early-onset diseases.

• Journal of Acupuncture Research
• /
• v.22 no.3
• /
• pp.105-112
• /
• 2005

Obiective : The purpose of this study was to assess the effect of acupuncture treatment for chronic headache patients using power spectrum analysis of the heart rate variability(HRV). Methods : 15 clinical experiment participants were gathered and through a questionnaire patients who experienced headache for more than 4 hours a day and more than IS days per month were qualified as Chronic Headache patients. Treatment was afplied 2 times a weeks for 8 weeks. The acupoints, GV2O, HN23, ST8, HN46, TEl7, GB2O, LI2O, LI11, LI14, ST36, and LR3 were stimulated for 20 minutes. The effects of acupuncture treatment were analyzed using power spectrum analysis of the HRV. HRV was recorded before and after acupuncture treatment. Results : HRV before and after treatment was compared after 8 weeks of acupuncture treatment. Increase in mean values of SDNN and RMSSD were observed but the increases were not statistically significant. Increase in mean values of TP, LF and HF were observed but, the increase was significant(p<0.05) only in TP. Conclusions : The results suggest that acupuncture treatment on chronic headache patients can increase the activity of autonomic nervous system. Further use of HRV for quantitative analysis of acupuncture treatment on autonomic nervous system related symptoms is suggested.

• The Journal of Korean Medicine
• /
• v.28 no.2 s.70
• /
• pp.66-79
• /
• 2007

Objectives : To explore the type and frequency of short term reactions, de Qi associated with acupuncture treatment and to determine the incidence of adverse events following acupuncture in Korea. Subjects and methods : This study is a retrospective and cross-sectional survey of patient reports. 1095 subjects, 585 of out-patients of the Oriental Medicine of Stroke & Neurological Disorders Center, East-West NEO Medical Center of Kyunghee University and 510 of out-patients of the Department of Cardiovascular & Neurologic Diseases (Stoke Center), Hospital of Oriental Medicine, Kyunghee Medical Center, from June through November of 2006, who had acupuncture, gave informed consent and completed one survey form. On this form, patients were asked to report short term acupuncture reactions, de Qi, patient satisfaction measurement (using VAS), and adverse events relating to acupuncture treatment. The acupuncturists of this study are Korean Medicine Doctors (KMD) who had worked as practitioners for 3-30 years or more. Results : The average age of the 1095 subjects was 58 years old. Positive short term acupuncture reactions after treatment were reported by 878 (80.2%), negative short term acupuncture reactions by 75 (6.8%) and no reactions were reported by 142 (13.0%). The most common positive short term acupuncture reactions were feeling 'relaxed', 472 (43.1%), followed by feeling 'less pain' 90 (8.2%), 'energized' 16 ( 1.5%), 'tingling' 16 (1.5%), 'heat feeling or Cold feeling' 10 (0.9%), and others 274 (25.0%), respectively. Negative short term acupuncture reactions were feeling 'pain' 37 (3.4%), tiredness 24 (2.2%), dizziness 9 (0.8%), and others 5 (0.2%), respectively. Traditionally described needling sensations of de Qi refer to a patient's response to distention, pulling, soreness, heaviness, numbness. 39.7% of subjects reported de Qi during needling, experiencing 'distention' 333 (30.4%), 'soreness' 52 (4.7%), 'pulling' 22 (2.0%), 'heaviness' 18 (1.6%), and 'numbness' 10 (0.9%) respectively. Positive short term acupuncture reactions and de Qi rate were the highest in the less than 40 years group (83/96 86.5%, 50/96 52.1%). No acupuncture reactions were highly seen in the over 70 years old group (31/187, 16.6%). Patient satisfaction level using VAS was a comparatively high $72.9{\pm}19.9$. Adverse events were only bleeding in 92 (8.4%) of the total subjects. High sensitive acupoints were 95 points as GV26 (54 times), LI4 (54 times), ST36 (53 times), GB20 (37 times), HT8(34 times), LV3 (29 times), SI3 (29 times), and LI11 (27 times) in order. Main impressions were stroke patients 430 (16.9%), headache 185 (16.9%), hypertension 97 (8.9%), and dizziness 85 (7.8%). Conclusions : Although 8 different Korean Medicine Doctors participated in this research, we obtained similar results from each. There were no significantly different results between the two hospitals. Short term acupuncture reactions and de Qi were most related to age. Except for bleeding there were no adverse events relating to acupuncture treatment in this study. We consider acupuncture treatment as very safe depending on practitioners. Positive short term acupuncture reactions after treatment were 12 times higher than negative short term acupuncture reactions. Subjects were comparatively satisfied with acupuncture treatment.