• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.1-18
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• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.192-199
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• 2004

Objective : This study was designed to evaluate the extent of effectivness of no mind-therapy (Korean traditional Qigong) on ADPKD. Method : ADPKD patient were observed for one year, given no Western Treatments, and treated only Josik(調息), Joki(調氣)(Korean traditional therapy). Results : 1. The general condition of patient improved and there were specific symtoms that ceased. 2. Hypertention patient showed a lowering of blood pressure. Conclusion : These results suggest a role for no mind-therapy in treatement of ADPKD.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.464-470
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• 2009

Purpose : This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography Methods : There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical records retrospectively. Results : The order of incidence was hydronephrosis, multicystic dysplastic kidney (MCDK), duplex kidney, vesico-ureteral reflux (VUR), single kidney, hydroureteronephrosis, ectopic kidney, polycystic kidney, ureterocele, and posterior urethral valve (PUV). There were 520 cases (57.4%) of hydronephrosis, and 20% of these needed an operation due to significant obstruction. MCDK was associated with other CAKUT in 25.4% of all cases. Approximately 57.9% of duplex kidney cases needed surgical treatment due to ureterocele and VUR. VUR had a male: female ratio of 10:1. Two out of seven cases of autosomal recessive polycystic kidney had progressed to chronic renal failure. Patients with PUV were relatively uncommon, and one out of nine cases progressed to end-stage renal disease. Conclusion : CAKUTs detected by prenatal ultrasonography were composed of various anomalies, and almost all of them had a good outcome without any intervention. However, in some cases, recurrent urinary tract infection or renal failure occurred, especially in bilateral cases. For further management, a long-term multicenter study is needed to investigate the precise incidence and outcome of each anomaly in the general population.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.178-181
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• 2007

Purpose : The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, simple renal cysts, renal cell carcinomas, and angiomyolipomas. All of these occur in children as well as adults in TSC. Angiomyolipomas, which can cause spontaneous life-threatening hemorrhages, are by far the most prevalent and the greatest source of morbidity. Here, we will address our experience, adding to the literature on pediatric patients with TSC requiring evaluation and treatment for renal manifestations. Methods : A retrospective analysis was made on 19 patients in whom TSC was diagnosed between May 2001 and Oct. 2005 at Severance Hospital. All patients had clinical diagnoses of TSC as defined by the 1998 tuberous sclerosis complex consensus conference. Results : The patients consisted of 13 boys and 6 girls with a mean age of 7.3 years (range 1 to 22). The renal disease associated with TSC included angiomyolipoma in nine patients (47.4 percent), renal simple cyst in one (5.3 percent), hydronephrosis in one (5.3 percent) patient. Eight patients (42.1 percent) presented with normal kidney contours at abdominal ultrasonography. One patient underwent renal replacement therapy due to chronic renal insufficiency after nephrectomy. Hemorrhage from angiomyolipoma was not detected. Conclusion : In our review of 19 cases of TSC, renal manifestations are reported in 57.9 percent of patients. Asymptomatic angiomyolipoma associated with TSC grow gradually, although severe hemorrhages are rare. So patients with TSC should be followed up with serial computerized tomography or abdominal ultrasonography. And also, renal function should be monitored conservatively.

• BMB Reports
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• v.41 no.8
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• pp.593-596
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• 2008

ADPKD (Autosomal Dominant Polycystic Kidney Disease) is characterized by the progressive expansion of multiple cystic lesions in the kidneys. ADPKD is caused by mutations in Ed-pl. consider PKD1 and PKD2. Recently a relation between c-myc and the pathogenesis of ADPKD was reported. In addition, c-Myc is a downstream effector of PKD1. To identify the gene regulated by PKD2 and c-Myc, we performed gene expression profiling in PKD2 and c-Myc overexpressing cells using a human 8K cDNA microarray. NCAM (neuronal cell adhesion molecule) levels were significantly reduced in PKD2 overexpressing systems in vitro and in vivo. These results suggest that NCAM is an important molecule in the cystogenesis induced by PKD2 overexpession.

• Journal of Microbiology and Biotechnology
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• v.34 no.7
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• pp.1385-1394
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• 2024

Collagenolytic proteases are widely used in the food, medical, pharmaceutical, cosmetic, and textile industries. Mesophilic collagenases exhibit collagenolytic activity under physiological conditions, but have limitations in efficiently degrading collagen-rich wastes, such as collagen from fish scales, at high temperatures due to their poor thermostability. Bacterial collagenolytic proteases are members of various proteinase families, including the bacterial collagenolytic metalloproteinase M9 and the bacterial collagenolytic serine proteinase families S1, S8, and S53. Notably, the C-terminal domains of collagenolytic proteases, such as the pre-peptidase C-terminal domain, the polycystic kidney disease-like domain, the collagen-binding domain, the proprotein convertase domain, and the β-jelly roll domain, exhibit collagen-binding or -swelling activity. These activities can induce conformational changes in collagen or the enzyme active sites, thereby enhancing the collagen-degrading efficiency. In addition, thermostable bacterial collagenolytic proteases can function at high temperatures, which increases their degradation efficiency since heat-denatured collagen is more susceptible to proteolysis and minimizes the risk of microbial contamination. To date, only a few thermophile-derived collagenolytic proteases have been characterized. TSS, a thermostable and halotolerant subtilisin-like serine collagenolytic protease, exhibits high collagenolytic activity at 60℃. In this review, we present and summarize the current research on A) the classification and nomenclature of thermostable and mesophilic collagenolytic proteases derived from diverse microorganisms, and B) the functional roles of their C-terminal domains. Furthermore, we analyze the cleavage specificity of the thermostable collagenolytic proteases within each family and comprehensively discuss the thermostable collagenolytic protease TSS.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.232-239
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• 2002

Purpose : Renal cystic diseases comprise a mixed group of heritable, developmental and acquired disorders. Recently the use of imaging modalities such as ultrasonography and radionuclide scanning has increased the detection rate of renal cystic diseases. We studied to review the clinical features and treatment of renal cystic diseases in children. Methods : This study was performed in 95 children with renal cystic diseases in the Department of Pediatrics, Asan Medical Center from October 1989 to June 2001. Results : In 95 patients, there were 55 cases(58.0%) with multicystic dysplastic kidney(MCDK), 19 cases(20.0%) with simple renal cysts, 13 cases(13.7%) with hereditary polycystic kidney diseases( 7 with autosomal recessive type, 5 with autosomal dominant type, 1 with undetermined), 6 cases(6.3%) with renal cysts in tuberous sclerosis and 1 case(1.0%) with medullary cystic disease. All MCDK patients had no renal dysfunction and hypertension during the follow-up period. Three out of 13 with polycystic kidney diseases had progressed to end-stage renal disease during the follow-up period. One case with a simple cyst underwent laparoscopic malsupialization for decompression. Conclusion : Renal cystic diseases have diverse clinicopathologic features and variable prognosis. We emphasize that routine follow-up should be performed to prevent and to detect early treatable complication in renal cystic diseases. Therefore, their natural history and treatment need further investigation and long term follow-up is required.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.227-236
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• 2002

Purpose : A study was done to assess the incidence and classification of congenital urinary tract anomalies detected by antenatal ultrasonogram. Methods : We reviewed 558 cases of urinary tract anomaly which were detected by antenatal ultrasonogram and postnatally confirmed between June 1989 and May 2002. We investigated the incidence and classified congenital urinary tract anomalies by review of medical records, antenatal and postnatal radiologic studies retrospectively. Results : In 558 cases of congenital urinary tract anomalies, 292 cases of hydronephrosis were found and the most common. Another anomalies were composed of 65 cases of multicystic dysplastic kidney, 32 cases of hydroureteronephrosis, 31 cases of duplication of kidney, 25 cases of renal agenesis, 21 cases of simple renal cyst, 20 cases of polycystic disease, 13 cases of ureterocele, 11 cases of renal hypoplasia, 10 cases of horseshoe kidney, 9 cases of vesicoureteral reflux, 8 cases of posterior urethral valve, 7 cases of bladder diverticulum, 6 casts of megaureter, 5 cases of ectopia, 2 cases of megacystis, and 1 case of medullary cystic disease. In 82 of the 558 cases, there were two or more combined urinary tract anomalies. Associated diseases other than urinary tract were observed in 13 cases, of which the congenital heart disease was the most common. Conclusion : The congenital urinary tract anomaly is frequently found and diverse during the antenatal ultrasonography. The multicenter study is needed to investigate precise incidence and distribution of each anomalies in general population.

• Clinical and Experimental Pediatrics
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• v.45 no.7
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• pp.923-927
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• 2002

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year-old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.