• 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 Life Science
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• v.15 no.1 s.68
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• pp.38-44
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• 2005

Infection with hepatitis B virus (HBV) is a major health problem worldwide. Although a tremendous amount has been known about HBV, there have been obstacles in the study of HBV due to the narrow host range of HBV limited to humans and primates. In the present study, we investigated the susceptibility to HBV infection of mouse hepatoma cell line, Hepa-1c1c7. In addition, based on that human hepatocytes infected by HBV increase the expression of the pro-inflammatory cytokine TNF-a, the inducibility of TNF-a expression by HBV in the cells was determined. HBV surface antigen (HBsAg) secretion was measured by the microparticle enzyme immunoassay and steady state mRNA expression was analyzed by quantitative competitive RT-PCR. Transient transfection of Hepa-1c1c7 cells with HBV expression vector resulted in a dose-dependent induction of TNF-a expression. Infection of Hepa-1c1c7 cells with the serum of HBV carrier also increased TNF-a mRNA expression. Both in the transfected and infected cells, HBV mRNA was expressed and significant HBsAg secretion was detected. There was no significant variation in $\beta-actin$ mRNA expression by HBV. These results demonstrate that HBV is infectious to Hepa-lc1c7 in vitro and the viral infection induces TNF-a expression, which suggests that Hepa-lc1c7, a mouse hepatoma cell line, may be a possible model system for analysis of various molecular aspects of HBV infection.

• Journal of Korean Tunnelling and Underground Space Association
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• v.18 no.5
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• pp.401-412
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• 2016

It is extremely difficult to apply conventional grouting methods to subsea tunnelling construction in the high water pressure condition. In such a condition, the rapid artificial freezing method can be an alternative to grouting to form a watertight zone around freezing pipes. For a proper design of the artificial freezing method, the influence of salinity on the freezing process has to be considered. However, there are few domestic tunnel construction that adopted the artificial freezing method, and influential factors on the freezing of the soil are not clearly identified. In this paper, a series of laboratory experiments were performed to identify the physical characteristics of frozen soil. Thermal conductivity of the frozen and unfrozen soil samples was measured through the thermal sensor adopting transient hot-wire method. Moreover, a lab-scale freezing chamber was devised to simulate freezing process of silica sand with consideration of the salinity of pore-water. The temperature in the silica sand sample was measured during the freezing process to evaluate the effect of pore-water salinity on the frozen rate that is one of the key parameters in designing the artificial freezing method in subsea tunnelling. In case of unfrozen soil, the soil samples saturated with fresh water (salinity of 0%) and brine water (salinity of 3.5%) showed a similar value of thermal conductivity. However, the frozen soil sample saturated with brine water led to the thermal conductivity notably higher than that of fresh water, which corresponds to the fact that the freezing rate of brine water was greater than that of fresh water in the freezing chamber test.

• Economic and Environmental Geology
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• v.30 no.2
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• pp.137-142
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• 1997

At the tailings dam of the disused Brukunga pyrite mine in South Australia, reaction of groundwater with the tailings causes the formation and discharge of sulphuric acid. There is a need to improve remediation efforts by decreasing groundwater flow through the tailings dam. Geophysical methods have been investigated to determine whether they can be used to characterise variations in depth to watertable and map preferred groundwater flow paths. Three methods were used: transient electromagnetic (TEM) soundings, direct current (DC) soundings and profiling, and self potential (SP) profiling. The profiling methods were used to map the areal extent of a given response, while soundings was used to determine the variation in response with depth. The results of the geophysical surveys show that the voltages measured with SP profiling are small and it is hard to determine any preferred channels of groundwater flow from SP data alone. Results obtained from TEM and DC soundings, show that the DC method is useful for determining layer boundaries at shallow depths (less than about 10 m), while the TEM method can resolve deeper structures. Joint use of TEM and DC data gives a more complete and accurate geoelectric section. The TEM and DC measurements have enabled accurate determination of depth to groundwater. For soundings centred at piezometers, this depth is consistent with the measured watertable level in the corresponding piezometer. A map of the watertable level produced from all the TEM and DC soundings at the site shows that the shallowest level is at a depth of about 1 m, and occurs at the southeast of the site, while the deepest watertable level (about 17 m) occurs at the northwest part of the site. The results indicate that a possible source of groundwater occurs at the southeast area of the dam, and the aquifer thickness varies between 6 and 13 m. A map of the variation of resistivity of the aquifer has also been produced from the TEM and DC data. This map shows that the least resistive (i.e., most conductive) section of the aquifer occurs in the northeast of the site, while the most resistive part of the aquifer occurs in the southeast. These results are interpreted to indicate a source of fresh (resistive) groundwater in the southeast of the site, with a possible further source of conductive groundwater in the northeast.

• Applied Microscopy
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• v.38 no.3
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• pp.151-157
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• 2008

Trigeminal primary afferents expressing $P2X_3$ or transient receptor potential vanilloid 1 (TRPV1) are involved in the transmission of nociceptive information. In order to characterize $P2X_3$- and TRPV1-immunopositive neurons in the trigeminal ganglion (TG) and trigeminal caudal nucleus (Vc), we performed immunofluorescence experiments using anti-$P2X_3$ and anti-TRPV1 antisera and a morphometric analysis. 77.4% (1,401/1.801) of all the $P2X_3$-postive neurons coexpressed TRPV1 and 51.9% (1,401/2,698) of all the THFV1-immunopositive neurons also costained for $P2X_3$ in the TG. Immunoreactivity for both $P2X_3$ and TRPV1 were present in medium-sized neurons but not in small- and large-sized neurons. $P2X_3$ and/or TRPV1-immunopositive fibers were observed in the primary afferents and their associated axons in the Vc. These fibers and terminals were distributed in the superficial lamina of Vc: $P2X_3$-immunopositive fibers and terminals were distributed in the lamina I and II, expecially in the inner part of lamina II (lamina IIi), whereas TRPV1-immunopositive ones were densely detected in the lamina I and outer part of lamina II (lamina IIo). Immunopositive fibers and terminals for both $P2X_3$ and TRPV1 were observed on the border between lamina IIi and IIo. These results suggest that terminals coexpressing $P2X_3$ and TRPV1 are involved in specific roles in the transmission and processing of orofacial nociceptive information.

• Childhood Kidney Diseases
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• v.3 no.1
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• pp.57-63
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• 1999

Purpose : To evaluate the diagnostic significance of simultaneous examination of hematuria and proteinuria in the urinary mass screening for early detection ot incipient renal diseases. Method and Object : During the period of 4 months from August to December in 1997, we did urinary mass screening on students of first grade of high school (16 years aged group) nationwide together with Korean Association of Health(KAH). In the first screening test, Comber-10 $N^{(R)}$ M dipsticks were used to detect proteinuria, hematuria, pyuria and nitrite simultaneously. Total 26,508 students (16 years aged group) from 33 high schools in every province in Korea, respectively, complied to the urinary mass screening. After then, one high school in Seoul was selected to reveal the true incidence of incipient renal diseases among students who showed hematuria in the initial screening through intensive examinations. Those who had hematuria and/or proteinuria visited the Paik hospital, and underwent blood tests and ultrasonographic examinations. The results were evaluated. Results 1) The initial screening revealed that the prevalence of proteinuria, hematuria, pyuria and positive nitrite urine, were $0.73\%,\;2.69\%,\;0.23\%\;and\;0.03\%$, respectively. 2) The first urinary screening among 875 students from one high school in Seoul selected fir the second test showed proteinuria, hematuria, pyuria and positive nitrite urine, were $0.91\%,\;4.68\%,\;0.34\%\;and\;0\%$, respectively. a) Total 8 among 875 students showed proteinuria, but one of them had orthostatic proteinuria and those remaining 7 students had transient proteinuria. b) There were 41 students who had hematuria in the initial screening. Among 33 who complied the second test, only one student showed asymptomatic isolated hematuria and those remaining students were normal. Conclusion : 1) Because of high false positive hematuria rate in the urinary mass screening, it dosen't seem to be appropriate that hematuria screening using dipsticks be included in the urinary mass screening. 2) A unified organization is needed from the fret that so various results of urinary mass screening came out. 3) Positive rates of pyuria and nitrite were so low that validity of urinary mass screening for urinary tract infection needs more studies.

• Journal of radiological science and technology
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• v.31 no.3
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• pp.267-276
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• 2008

The 25 healthy male volunteers aged from 20 to 50years old have been employed in this study. 2D-PC MRA was performed to measure the velocity of the blood flow in the internal carotid artery and internal jugular veins using 3.0T MRI Whole body (signa VH/i GE). ECTRICKS-CEMRA was performed to evaluate the pattern of blood circulation from internal carotid artery to internal jugular vein. Using 2D-PC MRA, the cross-section of the 4th and 5th cervical discs was scanned with 24cm FOV. Then the speed of blood flow was measured for internal carotid artery and internal jugular vein when the subject wears a necktie tightly and no tie. The average of maximum velocity of internal carotid arteries without a necktie was 72.13cm/sec in the right side and 74.96cm/sec in the left side(average 73.54cm/sec in both sides) while the average of maximum velocity of internal jugular veins without a necktie was -34.45cm/sec in the right side and -24.99cm/sec in the left side (-29.72cm/sec in both sides). However, when wearing a necktie tightly, the average of maximum velocity of internal carotid arteries was 61.35cm/sec in the right side and 65.19cm/sec in the left side(average 63.27cm/sec in both sides) while the average of maximum velocity of internal jugular veins was -22.14cm/sec in the right side and -17.93cm/sec in the left side(-20.03cm/sec in both sides). With the necktie tightly knotted, the average blood flow speed of both internal carotid arteries slightly decreased to 86% (63.27/73.54cm/sec) compared to no tie case in which both internal jugularveins significantly went down to 67% (-20.03/-29.72 cm/sec). Thus it is suggested that wearing a necktie affects the circulation of internal jugular veins(33% decrease in blood flow speed) more significantly than that of internal carotid artery(14% decrease in blood flow speed). Without a necktie, ECTRICKS-CEMRA showed natural blood circulation patterns of internal carotid arteries and internal jugular veins without any disturbances or compressions. However, when wearing a necktie tightly, ECTRICKS-CEMRA showed severe compression onto both internal jugular veins in all 25 volunteers. In conclusion, the result of the study showed that the tightly worn necktie instantly presses more internal jugular veins than internal carotid arteries, thereby significantly reducing the blood flow speed and leading to the temporary occlusion. Thus, the defecation or washing the face under the tightly tied necktie situations can cause the unexpected and temporary compression or occlusion of the internal jugular veins, subsequently leading to the occurrences of the stroke due to the secondary intracranial venous hypertension.

• Journal of Soil and Groundwater Environment
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• v.12 no.5
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• pp.19-32
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• 2007

In Korea, there have been various methods of estimating groundwater recharge which generally can be subdivided into three types: baseflow separation method by means of groundwater recession curve, water budget analysis based on lumped conceptual model in watershed, and water table fluctuation method (WTF) by using the data from groundwater monitoring wells. However, groundwater recharge rate shows the spatial-temporal variability due to climatic condition, land use and hydrogeological heterogeneity, so these methods have various limits to deal with these characteristics. To overcome these limitations, we present a new method of estimating recharge based on water balance components from the SWAT-MODFLOW which is an integrated surface-ground water model. Groundwater levels in the interest area close to the stream have dynamics similar to stream flow, whereas levels further upslope respond to precipitation with a delay. As these behaviours are related to the physical process of recharge, it is needed to account for the time delay in aquifer recharge once the water exits the soil profile to represent these features. In SWAT, a single linear reservoir storage module with an exponential decay weighting function is used to compute the recharge from soil to aquifer on a given day. However, this module has some limitations expressing recharge variation when the delay time is too long and transient recharge trend does not match to the groundwater table time series, the multi-reservoir storage routing module which represents more realistic time delay through vadose zone is newly suggested in this study. In this module, the parameter related to the delay time should be optimized by checking the correlation between simulated recharge and observed groundwater levels. The final step of this procedure is to compare simulated groundwater table with observed one as well as to compare simulated watershed runoff with observed one. This method is applied to Mihocheon watershed in Korea for the purpose of testing the procedure of proper estimation of spatio-temporal groundwater recharge distribution. As the newly suggested method of estimating recharge has the advantages of effectiveness of watershed model as well as the accuracy of WTF method, the estimated daily recharge rate would be an advanced quantity reflecting the heterogeneity of hydrogeology, climatic condition, land use as well as physical behaviour of water in soil layers and aquifers.

• Journal of Chest Surgery
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• v.39 no.6 s.263
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• pp.434-439
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• 2006

Background: Deep hypothermic circulatory arrest during repair of aortic arch anomalies may induce neurological complications or myocardial injury. So we surveyed if the regional cerebral and myocardial perfusion might eliminate those potential side effects. Material and Method: From March 2000 to December 2004, 62 neonates or infants with aortic arch anomaly underwent one stage biventricular repair using the regional perfusion technique by single surgeon. Preoperative diagnosis of the arch anomaly consisted of coarctation (n=46), interruption of the aorta (n=12), hypoplastic left heart syndrome (n=2) and truncus areteriosus (n=2). Combined anomalies were ventricular septal defect (n=51), TAPVR (n=1), PAPVR (n=1) and atrioventricular septal defect (n=2). Arterial cannula was inserted at the innominate artery. Result: The mean regional perfusion time of brain was $28{\pm}10min$. Operative mortality rates was 0 (0/62). Late death was 1 (1/62) during $11{\pm}7$ months of follow-up. Neurologic complications consisted of transient chorea in 1 case. There was no reoperation associated with arch anolamy. Pulmonary complication associated with arch repair occurred in f case which was managed by aortopexy. Conclusion: One-tage rch repair using the regional profusion is safe and effective in minimizing the neurologic and myocardial complications.

• Progress in Medical Physics
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• v.16 no.4
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• pp.207-213
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• 2005

The severity of carotid Intima-media thickness (IMT) is an Independent predictor of atherosclerosis which causes transient cerebral ischemia, stroke, and coronary events such as myocardial Infarction. The IMT consists of Intima thickness (IT) and media thickness (MT). However, the Individual clinical significance of IT and MT has not been well studied. We devised a method of measuring IT, MT, and IMT using B-mode ultrasound Image processing technique for the diagnosis of atherosclerosis. To inspect the clinical significance of IT, MT, and IMT, one hundred forty-four consecutive patients (mean age; 57 years old, 72 males) were underwent common carotid artery scanning using high-resolution ultrasound. Results showed that, the IT (p<0.05), MT (p<0.05) as well as IMT (p<0.01) of patients with atherosclerotic disease were significantly thicker than that of the patients without atherosclerotic disease. Patients with hyperiension showed significantly thicker IT (p<0.01), MT (p<0.001), and IMT (p<0.001). However, only IT was thicker in patients with smoking (p<0.01). The IT (r=0.374, p=0.001), MT (r=0.433, p=0.000), and IMT (r=0.479, p=0.000) showed positive correlation with age. The coefficients of determination ($r^2$) were estimated to be $92.4\%$ for IMT and MT, $49.1\%$ for IMT and IT, and $27.4\%$ for IT and MT. This result suggests that the Intima layer of the carotid artery has a different physiology with the media layer.