• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.37-41
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• 2014

Fabry disease is an X-linked disease caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Affected males present anhydrosis, acroparesthesia and angiokeratoma, and subsequently cardiac, cerebral and renal complications are followed. Females and atypical variants show heterogeneous clinical symptoms. In 2001, two recombinant enzymes were approved for Fabry disease: agalsidase alpha and agalsidase beta. Since the introduction of enzyme replacement therapy (ERT), the number of long-term follow-up studies has been reported. Long-term ERT showed effectiveness on renal function in patients with chronic kidney disease, decrease or stabilization of left ventricular mass, and improvement of pain and quality of life. However, there were limited effects on cerebrovascular events and their mortality. Current literatures on the clinical effect of ERT have reported limited datain adult patients who have already advanced disease. Therefore, further study for pre-symptomatic patients and atypical variants is needed to verify the impact of ERT. This review summarized recent progresses in ERT and limitations of long-term effect of ERT in patients with Fabry disease.

• Journal of Oriental Medical Thermology
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• v.1 no.1
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• pp.52-56
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• 2002

Causes of infertility include a wide range of physical, as well as emotional factors. In Oriental medicine, women's infertility is believed to be caused by the deficiency of the Chung and Ren vessel. Then the Kidney Qi is collapsed and cold. Many infertility women complain the cold hypersensitivity and/or body coldness, especially on the lower abdomen, back and knee. The aim of this study is to examine the interrelationship between infertility and body surface temperature. The 25 infertility women were allocated as infertility group and 25 fertility women (experienced delivery or pregnancy), as control group at the Kangnam Korean Hospital, KyungHee University, Seoul, Korea, from April to December 2000. Thermographic observations for this study were made using the Dorex DITI on 3 different areas's cold hypersensitivity: lower abdomen, back and knee. All data were coded for computer analysis and significances were tested by Mann-Whitney Test. The mean ${\Delta}T$ for abdomen cold hypersensitivity was $0.25{\pm}1.77^{\circ}C$ On control group and $1.00{\pm}0.39^{\circ}C$, infertility group. The mean ${\Delta}T$ for back cold hypersensitivity was $1.75{\pm}0.40^{\circ}C$ on control group and $1.21{\pm}0.58^{\circ}C$, infertility group. The mean ${\Delta}T$ for knee cold hypersensitivity was $0.65{\pm}0.70^{\circ}C$ on control group and $1.32{\pm}0.58^{\circ}C$, infertility group. It was revealed that the cold hypersensitivity on the lower abdomen, back and knee are significantly inter-related to the women infertility. These results do not conflict with the view of Oriental medicine. According to the above results, it is concluded that the body surface temperature, cold hypersensitivity and/or body coldness, have a great effect on women infertility.

• Herbal Formula Science
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• v.20 no.1
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• pp.89-99
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• 2012

Objectives : This report describes 36 formulas including Asparagi Radix and Liriopis Tuber in Dongeuibogam. Asparagi Radix and Liriopis Tuber have been used separately or concurrently in Oriental Medicine for a long time as a treatment for various diseases. Methods : 36 formulas including Asparagi Radix and Liriopis Tuber as a main component which have been used separately or concurrently in Oriental Medicine for a long time as a treatment for various disease in Dongeuibogam were studied through order of frequency, symptoms, dosages, etc. Results : 1. 6 formulas are recorded in fatigue chapter, 5 formulas in blood chapter 7 formulas in body shape chapter and fire chapter each which are arranged in order of frequency. 2. Enhancing strength and life span herbs are most used in formulas including Asparagi Radix and Liriopis Tuber. General fatigue treating herbs, severe bleeding cold, fire moving by yin-deficiency and kidney malfunction treating herbs are following frequency among 25 symptoms in formulas including Asparagi Radix and Liriopis Tuber. 3. The dosages of Asparagi Radix which is used same amount Liriopis Tuber are ranged from 2.5 puns~2 jeons. 1 jeon is recorded 13(36.1%), 5 puns is 6(16.7%), 7 puns and 2 jeons are recorded 4(11.1%), the rests are 3(8.3%) used among 36 formulas including Asparagi Radix and Liriopis Tuber. 4. The frequencies of Asparagi Radix and Liriopis Tuber have 9(25.0%) in decoctions groups, 27(75.0%) in the other groups except decoctions. So the ratio of decoctions groups to the other groups in being used is about 1:3. Decoction groups are used in enhancing Yin and descending fire, on the other hands the other groups except decoctions are used in well-being in whole life. Conclusions : The 36 formulas including Asparagi Radix and Liriopis Tuber in Dongeuibogam are mainly composed of Eedong-go, Insamgobon-hwan, Gamri-hwan, Samjae-hwan, Saengjihwang-go, Naebo-hwan, etc.

• Journal of Sasang Constitution and Immune Medicine
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• v.28 no.4
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• pp.320-329
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• 2016

Objective We researched to analyze correlation between menstrual pain and Korean medical diagnosis - Sasang constitution and Pattern Identification - through clinical research of the patients of menstrual pain. Method Trial gruop who consists of women with menstrual pain is 193 people, and control group who consists of women without menstrual pain is 101 people. We producted analyzing of their Sasang Constitution and symptom with Diagnosis System of Oriental Medicine(DSOM). This study used chi-square test, two sample t-test, analysis of variance, Wilcoxon's rank sum test, Kruskal-Wallis test, correlation analysis. Results 1) In trial and control group, Soeumin was the largest and Soyangin was the least. There was'nt statistical significance between trial and control group. 2) In DSOM, deficiency of blood, stagnation of qi, blood stasis, coolness, spleen, kidney and phlegm pathogenic factors showed significant difference. Conclusion There were significant corelation between menstrual pain and Korean mdical diagnosis - Sasang constitution and Pattern Identification.

• Childhood Kidney Diseases
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• v.25 no.1
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• pp.29-34
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• 2021

C3 glomerulonephritis (C3GN), a rare condition associated with dysregulation of the alternative pathway of the complement system, is histopathologically characterized by isolated or dominant C3 deposition in the renal glomeruli. We report a case of C3GN associated with anti-complement factor H (CFH) autoantibodies and CHF-related protein deficiency in an adolescent male. A 16-year-old adolescent male was admitted to a hospital with a 1-month history of generalized edema prior to presentation. Persistent microscopic hematuria and low serum C3 levels were incidentally detected at 7 and 10 years of age, respectively. Laboratory test results revealed hypoalbuminemia, nephrotic-range proteinuria, microscopic hematuria, and normal serum creatinine levels. The serum C3 and C4 levels were 17 mg/dL (normal 80-150 mg/dL) and 22 mg/mL (17-40 mg/mL), respectively. Renal biopsy showed typical features of C3GN. Further investigations revealed positive results on plasma anti-CFH autoantibody testing and a homozygous deletion of CFHR1 and CFHR3, which encode CFH-related proteins 1 and 3, respectively. Proteinuria persisted despite treatment with intravenous methylprednisolone, mycophenolate mofetil, and angiotensin-receptor blocker; however, his renal function remained stable. In conclusion, anti-CFH autoantibodies serve as important contributors to C3GN. This is the first case report that describes C3GN in an adolescent Korean male with anti-CFH autoantibodies and homozygous CFHR1 and CFHR3 deletion.

• Journal of Genetic Medicine
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• v.20 no.1
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• pp.6-14
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• 2023

Fabry disease (FD), a rare X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A gene gene encoding α-galactosidase A (α-Gal A). The functional deficiency of α-Gal A results in progressive accumulation of neutral glycosphingolipids, causing multi-organ damages including cardiac, renal, cerebrovascular systems. The current treatment is comprised of enzyme replacement therapy (ERT), oral pharmacological chaperone therapy and adjunctive supportive therapy. ERT has been introduced 20 years ago, changing the outcome of FD patients with proven effectiveness. However, FD patients have many unmet needs. ERT needs a life-long intravenous therapy, inefficient bio-distribution, and generation of anti-drug antibodies. Migalastat, a pharmacological chaperone, augmenting α-Gal A enzyme activity only in patients with mutations amenable to the therapy, is now available for clinical practice. Furthermore, these therapies should be initiated before the organ damage becomes irreversible. Development of novel drugs aim at improving the clinical effectiveness and convenience of therapy. Clinical trial of next generation ERT is underway. Polyethylene glycolylated enzyme has a longer half-life and potentially reduced antigenicity, compared with standard preparations with longer dosing interval. Moss-derived enzyme has a higher affinity for mannose receptors, and seems to have more efficient access to podocytes of kidney which is relatively resistant to reach by conventional ERT. Substrate reduction therapy is currently under clinical trial. Gene therapy has now been started in several clinical trials using in vivo and ex vivo technologies. Early results are emerging. Other strategic approaches at preclinical research level are stem cell-based therapy with genome editing and systemic mRNA therapy.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.29 no.4
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• pp.1-13
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• 2016

Objectives : The purpose of this study is to compare hair and alopecia of Korean Medicine with those of western medicine. Methods : We studied relationships between hair and essense(精), qi(氣), blood(血), five vicera(五臟) and meridians(經絡) through literature review about hair and alopecia. We compared Korean medicine with western medicine on physiology of hair and treatment of alopecia based on the study. Results & Conclusion : 1. Congenital essense(先天之精) is related with genetic factor and acquired essence(後天之精) is connected with nutritional factor. Defending function of Defense qi(衛氣) is related with immune reaction and qi stagnation(氣鬱) is associated with stress reaction. Atrophy of vascular tissues observed in alopecia scalp means deep relationship between blood(血) and alopecia, further deficiency of blood can cause telogen effluvium. 2. Kidney qi(腎氣) is related with inhibiting combination of Androgen receptor and Dihydrotestosterone(DHT) or activating hair growth factior. Pi(脾) is connected with alopecia seborrheica caused by damp-heat(濕熱) and alopecia areata caused by excessive prudence(思慮過度). Heart(心) is associated with atrophy in vascular tissue of scalp and liver(肝) is connected with metabolism. 3. Armpit hair and pubic hair as secondary sex characteristics are realated with Yangming Meridian(陽明經) and beard and hair at crown part where Type II $5{\alpha}$-reductase is activated much are associated with Taiyang Meridian(太陽經). 4. Juglandis Semen pharmacopuncture and Ganoderma lucidum pharmacopucture have better effects on inhibit $5{\alpha}$-reductase than Finasteride. Minoxidil and PRP are similar with promoting blood flow and removing stasis(活血祛瘀). Seven-star needling(七星針) is similar with microneedling. 5. Alopecia can be caused by due to lack of circulation Views we need solution to improve circulation coincide in opinion with Korean Medicine and Western medicine.

• Korean Journal of Poultry Science
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• v.42 no.3
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• pp.239-245
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• 2015

Transgenic animals have been widely used for developmental biology studies, as disease models, and even in industry such as transgenic bioreactor animals. For transgenic birds, quail has the great advantages of small body size, short generation time, and frequent egg production. To date, retroviral or lentiviral transduction has been used to generate transgenic quail for various purposes. However, the efficiency of transgenic offspring production with these methods is relatively low and viral vector usage has safety issues. Unfortunately, non-viral transgenesis has not been established in quail due to a deficiency of stem cell and germ cell culture systems. In this study, we established a direct in ovo lipofection method that could be used to create transgenic quail without germline-competent cells or viruses. To optimize the injection stage during embryo development, the liposome complex (containing piggyBacCMV-GFP and transposase plasmids) was introduced into an embryonic blood vessel at 50 hr, 55 hr or 60 hr. GFP expression was detected in various tissues (heart, kidney, liver and stomach) on day 12 of incubation under a fluorescence microscope. Additionally, GFP-positive cells were detected in the recipient embryonic gonads. In conclusion, the direct in ovo lipofection method with the piggyBac transposon could be an efficient and useful tool for generating transgenic quail.

• Journal of Physiology & Pathology in Korean Medicine
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• v.23 no.6
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• pp.1292-1298
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• 2009

Sipjeon-Daebo-Tang (SDT) is indicated for deficiency syndrome of both gi and blood, marked by pale or sallow complexion, dizziness, lassitude, shortness of breath, dislike for talking, poor appetite, pale tongue with thin whitish fur, thready and weak pulse. Gami-Sipjeon-Daebo-Tang(GSDT) is composed of 10 herbs within SDT and Cervi Pantotrichum Cornu (CPC). CPC can noursh kidney-yang, promote the production of the essence and blood, strengthen tendons and bones. Recently SDT is known as anti-cancer drug. Especially CPC is reported to have anti-oxidative action. For these reasons, we investigated the protective effects on cell death induced by chemicals such as paraquat, hydrogen peroxide and anti-oxidative effects in C6 glioma cells. In our results, GSDT accelerated proliferation rates of C6 cells in vitro. In addition, protective effects on cell death induced by hydrogen peroxide and rotenone. In addition, SOD activities were increased by treatment with both SDT and GSDT. In conclusion, these results suggest the possibility of GSDT to protect brain cell or neuronal cell from damage induced by oxidative stress. And also suggest that related mechanisms are involved in SOD activities.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.57-62
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• 2004

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.