• 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 Yeungnam Medical Science
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• v.16 no.2
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• pp.208-218
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• 1999

Background: Lung cancer-associated hypercalcemia is one of the most disabling and life-threatening paraneoplastic disorders. Humoral hypercalcemia is responsible for most lung cancer-associated hypercalcemia. Patients with hypercalcemia are usually in the advanced stage with obvious bulky tumor and carry a poor prognosis. Materials and Methods: Total 29 patients satisfied the following criteria: histologically proven primary lung cancer, corrected calcium level ${\geq}$ 10.5 mg/dL, and symptoms which could possibly be attributed to hypercalcemia. In this retrospective study, we evaluated the various clinical aspects of hypercalcemia, in relation to cancer stage, histologic cell type, mass size, bone metastasis, performance status, and other possible characteristics. Results: Total 29 lung cancer patients with hypercalcemia were studied, and most of them had squamous cell carcinoma in their histologic finding. The incidence of hypercalcemia was significantly higher between 50 and 69 years of age, and in the advancement of cancer stage. Although serum calcium level showed positive correlation with mass size, performance status, and bone metastasis, it was not significant statistically. Altered consciousness was significantly more frequent in the patients with higher serum calcium level. There were no differences in effectiveness among therapeutic regimens. Hypercalcemia was more frequently in the later stage of disease than during the initial diagnosis of lung cancer. Most of the patients died within 1 month after development of hypercalcemia. Conclusion: We concluded that hypercalcemia in lung cancer is related to extremely poor prognosis, and may be one of the causes of death and should be treated aggressively to prevent sudden deterioration or death.

• Research in Plant Disease
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• v.16 no.1
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• pp.21-26
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• 2010

Viral diseases, especially Barley yellow mosaic virus (BaYMV) and Barley mild mosaic virus (BaMMV) have been most serious in barley fields. In this study, we investigated the effect of different level of resistance to viral diseases on the plant growth and yield in malting barley. In diagnosis of virus infection, BaYMV and BaMMV were detected in 'Doosan 29' (susceptible), however, 'Jinyangbori' (moderate susceptible) and 'Hopumbori' (moderate) was infected by only BaYMV. Plant height was restrained about 8~29% in overwintered plant regeneration stage depending on the resistant of each cultivar. The culm length damaged also to 9~12% by BaYMV infection. The tiller numbers reduced to 10~14% in overwintering season, however, the head numbers in harvest season more decreased to 26~33%. Heading date was delayed to 3~3 days by the infection. In examination of yield components, 1,000 kernel weight and $\ell$ weight reduced according to culrivar's resistant degrees to 4.0~6.4% and 1.0~4.2%, respectively. The yield of abortive grain was doubled in BaYMV infection comparing to non-infested field. Three varieties tested in the non-infected field over two years were not significantly different for yield potential with ranges of 509kg~632kg/10a. However, significant yield reduction was observed in 'Saessalbori' and 'Baegdong' with ranges of 77~177kg/10a as compared to 'Hopumbori' (467 kg/10a) when tested in the virus-infected field. Yield potentials of these cultivars reduced by 26~43%, respectively, in the virus-infected field as compared to those in the non-infected field.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.157-163
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• 2005

Purpose: Dietary protein induced proctocolitis (DPIPC) can be considered as a cause of rectal bleeding or blood streaked stool in otherwise healthy-looking infants in the first several months of life. Failure to appreciate this entity may lead to inappropriate diagnostic or therapeutic intervention. This study aimed to ascertain the clinical features, treatment and prognosis of DPIPC. Methods: We reviewed 13 infants retrospectively, presented with bloody stool in early infancy. They were diagnosed as DPIPC clinically in Pusan National University Hospital from May 2002 to June 2004. Results: Seven males and six females were included. The mean age at onset of bleeding was $96.8{\pm}58.8days$. The mean frequency of hematochezia was $2.6{\pm}2.5$ times a day. Duration from onset of symptom to diagnosis was $35.5{\pm}55.0days$ and duration from onset of symptom to resolution of bleeding was $58.7{\pm}67.0days$. Nine (69.2%) were exclusively breast-fed infants and two (15.4%) were formula-fed infants. All but one infant did not have family history of other allergic diseases. A dietary history of ingestion of cow's milk, nut or shellfish was present in three mothers. Peripheral eosinophil count was normal to slightly elevated (total WBC count $10,555{\pm}3,145/mm^3$, relative eosinophil count $6.3{\pm}3.0%$, absolute eosinophil count $659.0{\pm}532.2/mm^3$). Sigmoidoscopy revealed lymphonodular hyperplasia with surrounding hemorrhagic spots in the rectosigmoid colon in 6 infants. Histopathologic finding of colonic biopsies in 5 infants showed chronic inflammation with lymphoid follicular hyperplasia (5 infants), crypt abscess (3 infants), or mild infiltration of eosinophils (less than 20/high power field) in the lamina propria. Spontaneous resolution of rectal bleeding occurred in all infants without dietary change or medicine. Conclusion: Most infants with DPIPC experience a very benign course and have spontaneous resolution of rectal bleeding without changes in the mother's diet. In the case of strong evidence for DPIPC we suggest deferring further invasive investigation and continuing breast feeding.

• Journal of Chest Surgery
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• v.39 no.9 s.266
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• pp.674-680
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• 2006

Background: Acute myocardial infarction (MI) is a life-threatening disease and surgical revascularization plays a major role in selected cases. The purpose of this study is to evaluate the left ventricular contractility improvement by examining the wall motion score index (WMSI) and left ventricular ejection fraction (LVEF) in patients who under-went surgical revascularization under diagnosis of acute MI. Material and Method: From January, 2001 to December, 2004, 149 patients who underwent coronary artery bypass surgery within 2 weeks of acute MI were included. We evaluated pre- and postoperative left ventricular contractility by measuring WMSI and LVEF and examined the associating factors. Result: WMSI decreased from $1.54{\pm}4.30\;to\;1.43{\pm}0.40$ (p<0.001) and LVEF increased from $48.1{\pm}12.2%\;to\;49.7{\pm}12.3%$ after surgery (p=0.009). Off-pump technique, non-Q wave, anterior MI, and surgery within 7 days after MI were favorable factors for LVEF improvement (p=0.046, p=0.006, p=0.003, p=0.005, respectively). Conversely, aforementioned factors were irrelevant with WMSI improvement. For triple vessel disease, complete revascularization was favorable factor for WMSI improvement (p<0.001). Conclusion: Coronary artery by-pass surgery can improve WMSI and LVEF in patients with acute MI. In case of anterior MI with non-Q wave, early surgical revascularization within 7 days may be most beneficial in LVEF improvement. Regarding WMSI, complete revascularization may be essential.

• The Korean Journal of Nuclear Medicine
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• v.28 no.2
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• pp.177-185
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• 1994

Pharmacologic coronary vasodilation in conjunction with myocardial perfusion scintigraphy has become an alternative to dynamic exercise test for the diagnosis and risk stratification of coronary artery disease, especially in patients who are unable to perform adequate exercise. Dipyridamole and adenosine have been used for pharmacologic stress testing with myocardial perfusion imaging. Adenosine is a potent coronary vasodilator with rapid onset of action, short half-life, near maximal coronary vasodilation and less serious side effects. ST segment depression has been reported in about 7-15% of patients with coronary artery disease receiving dipyridamole in conjunction with myocardial perfusion imaging. The exact cause and clinical significance are not known. In order to evaluate the relationship between adenosine-induced ST segment depression during $^{99m}Tc$-MIBI myocardial perfusion scintigraphy and the severity of coronary artery disease, we performed $^{99m}Tc$-MIBI imaging after intravenous Infusion of adenosine In 120 patients with suspected coronary artery disease. Of the 120 patients, 28 also performed coronary angiography. There were 24 patients with ST segment depression during $^{99m}Tc$-MIBI scintigraphy and 96 patients without ST segment depression. Adenosine was infused Intravenously at a dose of 0.14mg/kg per minute lot 6minutes and $^{99m}Tc$-MIBI was injected at 3 minute. We then com-pared the hemodynamic changes, side effects, scintigraphic and angiographic findings. Heart rate increased $90{\pm}19$ beats/minute in the group with ST depression compared with $80{\pm}16$ beats/minute in the group without ST depression(p<0.05). Baseline systolic blood pressure was significantly higher in the group with ST depression($152{\pm}27$ mmHg) than in the group without 57 depression($140{\pm}21$mmHg, p<0.05). Double product at baseline($10.90{\pm}2.77$ versus $9.55{\pm}2.34\;beats/minute{\times}mmHg$) and during adenosine infusion($12.72{\pm}3.89$ versus $10.83{\pm}2.98\;beats/minute{\times}mmHg$) were significantly higher in the group with ST depression(p<0.05). The incidence of anginal chest pain was also significantly higher in the group with ST depression(ST versus 29%, p<0.0001). The $^{99m}Tc$-MIBI images were abnormal in 23(96%) patients with ST segment depression and 66(69%) patients without ST segment depression(p<0.05). In patients with ST segment depression, there were more reversible perfusion defects than in patients without ST segment depression(83 versus 55%, p<0.05). The number of abnormal segments were significantly higher in the group with ST depression($3.05{\pm}2.01$ versus $1.51{\pm}1.45$, p<0.005). In patients with ST segment depression, there were more segments of reversible perfusion defects than in patients without segment depression($2.15{\pm}2.11$ versus $0.89{\pm}1.24$, p<0.05). There were no differences in the angiographic severity by vessel(p ; NS). We concluded that ST segment depression during $^{99m}Tc$-MIBI myocardial perfusion scintigraphy with Intravenous adenosine is related to the severity of coronary artery disease.

• Childhood Kidney Diseases
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• v.7 no.1
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• pp.44-51
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• 2003

Purpose : Acute pyelonephritis in children may result in permanant renal damage which later in life may lead to hypertension and renal failure. The purpose of this study was to evaluate the factors that might be useful for predicting the development of renal scar in children with urinary tract infection(UTI). Methods : We retrospectively reviewed 442 patients with UTI who were admitted to the Department of Pediatrics of Chonbuk National University Hospital, during the period from April 1992 to March 2002. The patients were divided into two groups according to the presence of renal scar on the follow-up DMSA renal scan, and we compared the factors associated with renal scarring between the two groups. Results : There were no significant differences in sex, causative organism and acute phase reactants between the groups with and without renal scar. The age at diagnosis was significantly higher in the renal scar group compared to that without scar. Of the 60 patients with renal scar, 78% had vesicoureteral reflux(VUR), but 13% of patients without scar had VUR. Furthermore, the severity of VUR was significantly correlated with renal scar formation. 53% showed multiple cortical defects on the initial DMSA renal scan, compared to 32% in the non-scar group. In addition, 76% of patients showing multiple cortical defects on the initial DMSA renal scan with VUR had renal scar. Conclusion : The presence and grade of VUR, and findings on the initial DMSA renal scan would contribute to predict risk of renal scar formation in children with UTI.

• The Korean Society of Law and Medicine
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• v.17 no.2
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• pp.85-124
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• 2016

The Human gene testing act (GenDG) in Germany starts from the characteristic features of gene testing, i.e. dualisting structure consisted of anlaysis on the one side and the interpretation on the other side. The linguistic distincion of 'testing', 'anlaysis' and 'judgment' in the act is a fine example. Another important basis of the regulation is the ideological purpose of the law, that is information autonomy. The normative texts as such and the founding principle are the basis of the classification of testing types. Especially in the case of gene testing for medical purpose is classified into testing for diagnostic purpose and predictive purpose. However, those two types are not always clearly differentiated because the predictive value of testing is common in both types. In the legal regulation of gene testing it is therefore important to manage the uncertainty and subjectivity which are inherent in the gene-analysis and the judgment. In GenDG the system ensuring the quality of analysis is set up and GEKO(Commity for gene tisting) based on the section 23 of GenDG concretes the criterium of validity through guidelines. It is also very important in the case of gene testing for medical purpose to set up the system for ensurement of procedural rationality of the interpretation. The interpretation of the results of analysis has a wide spectrum because of the consistent development of technology on the one side and different understandings of different subjects who performs gene testings. Therefore the process should include the communication process for patients in oder that he or she could understand the meaning of gene testing and make plans of life. In GenDG the process of genetic counselling and GEKO concretes the regulation very precisely. The regulation as such in GenDG seems to be very suggestive to Korean legal polic concerning the gene testing.

• The Journal of Korean Medicine
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• v.16 no.2 s.30
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• pp.453-489
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• 1995

The research of the phrases related with physiology of stomach and spleen in the contents of Huang Di Nei Jing(黃帝內經) known as the Bible of oriental medicine will make a contribution to a deep understanding of disease of stomach and spleen and a proper clinical diagnosis and treatment of them. In this research of the most appropriate glosses recorded nine kinds of representative medical books including Huang Di Nei Jing Somoon(黃帝內經素問) of Wang Bing(王氷) were picked out: The summaries of the selected contents are as follows: 1. The word 'saliva(涎)' in 'the spleen controls saliva(脾爲涎)' can be viewed as a generic term referring to oral cavity secretion gland as well as the secretion fluid of salivary gland. 2. The phases 'a large reservoir(太倉)', barn organs', 'a reserboir of food stuff', 'a stomach as the market(胃爲之市)', etc mean the function of stomach to receive food(胃主受納). 3. The phase 'generation of five tastes(五味出焉)' means both 'the function of stomach to transform food into chyme(胃主腐熟)' and 'the channelling function of spleen.(脾主運化)' 4. The flowing of the food-Qi(食氣) into stomach brings about spreading Jung(精) into liver and then percolating Jung(精) flow into channel. The channel-Qi(脈氣) flows into lung through channel. As a result, all kinds of channels gather together in lung and Jung(精) is sent into skin and hair. The assembly of Jung(精) with skins and channels moves Qi(氣) into fu-organ and so jung(精) and mental activity(神明) in fu-organ(府) come to be in four organs(四臟). Then if Qi(氣) comes back to power balance unit(權衡) being in the state of equilibrium(權衡以平), the hole of Qi(氣口) comes to determine the matter of life and death through achieving Chun-quan-chi(-寸-關-尺). The above mentioned phrases means the digestion, asorption and transmission of food. When food is taken in stomach, Jung-Qi(精氣) comes to be over flowed upward into spleen, back into lung, finally downward into bladders through water-conduit(水道) controlled by lung. When water- Jung(水精) radiates into whole body with channels of five organs(五臟), both of them fit together with and yin-yang(陰-陽). Therefore, the grasping of the rise and decline of yin-yang(陰C-陽) is necessary to consult patients. The above mentioned phrases is properly viewed to designate the asorption, transmission and excretion of food. 5. Spleen controls flesh(脾之合肉也), the state of spleen is known by human lips, and what this means is that liver plays functions of spread and expansion(肝主疏泄). 6. The phrase 'Jung Jung'((中精)) in 'gallbladder dominates Jung jung(膽主中精)', which in one of the specific expression of 'liver plays functions of spread and expansion(肝主疏泄). 7. It is right that the phase 'The eleven organs in all are determined by gallbladder'(凡十,一臟取決於膽也) is correctly paraphrased as 'only one of ten organs, spleen, is determined by gallbladder'.(凡十,一臟取決於膽也), 8. The small intestine is an organ. which receives the materials digested and sends them out. This means that the function of transforming materials(化物) factually refers to that of separating clearity and blur(泌別淸濁). And it is also thought to have the function of ascending clearity and descending blur(升淸降濁), 9. A large intestine is a transmitting organ(傳導之官) from which a change comes out(變化出焉). the phrase 'change'(變化) in this sentence means both the intake of water and nutrition and the formation procedure of stool through excretion of mucocele.

• Tuberculosis and Respiratory Diseases
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• v.59 no.4
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• pp.406-412
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• 2005

Background : Recently, two commercialized whole-blood assays, $QuantiFERON^{(R)}-TB$ Gold (QFT) and T $SPOT-TB^{(R)}$ (SPOT), which measure the $IFN-{\gamma}$ released in the whole blood after being incubation with mycobacterial antigens, were approved for the diagnosis of a latent tuberculosis infection (LTBI). However, there is data on whether or not the previously used PPD skin tests (TST) have any influence on the diagnostic ability of these ex-vivo $IFN-{\gamma}$ assays. Methods : Forty-six 15 year-old students who did not appear to be infected with Mycobacterium tuberculosis were enrolled in this study. The peripheral blood was collected and used for two $IFN-{\gamma}$ assays. The $IFN-{\gamma}$ assays and TST were performed at the baseline ($1^{st}$). The TST was repeated two months later ($2^{nd}$), and the $IFN-{\gamma}$ assays were repeated two ($2^{nd}$) and four months ($3^{rd}$) later only in those subjects who had negative results at the baseline in both the $IFN-{\gamma}$ assays and TST. An induration size > 10 mm was considered to be positive in the TST. Results : The mean TST value was $3.1{\pm}5.4mm$ (range: 0-20). Of the 46 subjects examined, 13 subjects (28.3%) showed positive results in the two-step TST. Nine (19.6%) were SPOT-positive and only one (2.2%) was QFT-positive. The $2^{nd}$ and $3^{rd}$ QFT were carried out in 23 and 25 all-negative subjects, respectively, and all showed negative results. The $2^{nd}$ SPOT was performed in 23 subjects and only one (4.3%) showed a weak-positive result. Conclusion : Even though there were some discrepancies in the results of the two ex-vivo $IFN-{\gamma}$ assays, it appears that their results were not influenced by a previous TST carried out in two or four months earlier.