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

• Journal of Ginseng Research
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• v.32 no.4
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• pp.283-290
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• 2008

Hypercholesterolemia is associated with many pathological states such as fat deposit in the tendon and skin, hepatomegaly, pancreatitis and heart attack. The present study was focused on the effect of Korean red ginseng water extract (RGWE) on the recovery of hepatic function that was deteriorated in high-cholesterol diet fed mice. Mice were divided into 6 groups ; normal diet group (AIN-2WK), 4 week-high-cholesterol diet group (CHOL-4WK), 2 week-high-cholesterol + 2 week-normal diet group (CHOL-2WK), 2 week-high-cholesterol + 2 week-normal diet + RGWE treated group (R100, R300, R500). RGWE treated group received normal diet and RGWE at daily doses of 100, 300, 500 mg/kg b.w. for 2 weeks after the 2 weeks feeding of high-cholesterol diet. The results are as follows : 1. The hepatic weight and total hepatic lipid weight were markedly lower in RGWE treated group than those in the CHOL-4WK or CHOL-2WK group, indicating that ginseng inhibited hepatic hypertrophy. 2. Total hepatic cholesterol and HDL-cholesterol in normal diet conversion group (CHOL-2WK) were significantly reduced compared with the high cholesterol group (CHOL-4WK). The lowering effect was significantly reinforced by RGWE administration. 3. Hepatic triglyceride level of CHOL-4WK group was markedly lower than that of the normal group (AIN-2WK). However, the level was significantly increased in CHOL-2WK and RGWE treated group. The result indicated that ginseng administration and diet conversion exert normalizing effects of hepatic function. 4. The lipid peroxide levels in RGWE treated groups were markedly lower than CHOL-2WK group. These results suggest that Korean red ginseng water extract can be useful as a dietary supplement for the treatment of obesity or hypercholesterolemia by improving lipid metabolism and hepatic function.

• The Journal of Internal Korean Medicine
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• v.15 no.1
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• pp.22-44
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• 1994

Clinical observations were done on 67 cases with Diabetes Mellitus in CVA patients who were confirmed by CT scan and observed for over 1 week, admitted to the Dept. of Internal Medicine in Oriental Medical Hospital of Dongguk University from January 1992 to December 1993. The results were as follows; 1. 86 patients (15.3%) with Diabetes Mellitus were found in 561 CVA patients, the 6th decade of age was 40.2%, the ratio of male to female was 0.72:1. 2. The local distribution of CVA was similar to common CVA, and occlusive CVD was 83.6%, cerebral hemorrhage was 16.4% in this study. 3. The association between blood glucose and years were not significant. The largest ratio of fasting blood glucose were 140-199 mg/dl (44.6%) in admission, below 139 mg/dl (51.8%) in discharge in case of occlusive CVD. In cerebral hemorrhage, that were 140-199 mg/dl(45.5%) in dmission, below 139 mg/dl (45.5%) in discharge. The largest ratio of pp2hrs blood glucose were 200-299mg/dl in admission and discharge both occlusive CVD and cerebral hemorrhage. 4. The total sensitivity of urine glucose was 71.6%, and sensitivity of urine glucose in cerebral hemorrhage (81.8%) was more higher than that of occlusive CVD (69.6%). 5. Below 4 years had the highest prevalence(44.8%) in duration of diabetes mellitus. Patients usually used oral hypoglycemic agents(41.8%), insulin injection(23.9%) treatment and non-therapeutic was 17.9% in this study. 6. Predisposing factors and symptoms in admissin were similar to common CVA. The conscious disturbance on attacck was 41.1% in occlusive CVD, and that was 63.7% in cerebral hemorrhage. 7. The most common ratio of the season's attack was spring (44.8%), 8. The frequency of post history was as follows, hypertension (44.8%), heart disease (10.4%), and they were in below 199 mg/dl (83.3%) of fasting blood glucose. 9. The family history of CVA was 46.3%, and they was higher than nondiabetic patients. 10. The recurrence rate of CVA was 28.4%, and that of occlusive CVD(28.6%) was higer than cerebral hemorrhage's (18.2%). 11. The smoker was 52.2%, the drinker was 38.9%. 12. The complications was occured in 10 cases (14.9%) after admission, and they frequently occured than common CVA. 13. In admission, the ratio of systolic blood pressure in over l60mmHg was 42.9%, that of diastolic blood pressure in over l00mmHg was 12.5% in occlusive CVD. In cerebral hemorrhage, the ratio of systolic blood pressure in over l60mmHg was 54.5%, that of diastolic blood pressure in over l00mmHg was 27.3%. 14. The average beginned time of physical theraphy was, generally lated, 8.3 days in occlusive CVD, 11.2 days in cerebral hemorrhage. Average admitted period was longer than common CVA, and was 29.2 days in occlusive CVD, 11.2 days in cerebral hemorrhage. 15. The degree of recovery were 82.1% in occlusive CVD, 72.7% in cerebral hemorrhage. 16. The herb medications were various Sunghyanggeonggisans, Sopungtang, Ganghwalyupungtang, Yanggyuksan etc. were used most frequently, and Yukmijihwangtang, Gamidaebotang, Mangeumtang etc. were used as discharge.