• Journal of Genetic Medicine
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• v.7 no.1
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• pp.87-90
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• 2010

Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.72-77
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• 2016

Purpose: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat ($Zavesca^{(R)}$) was approved for the treatment of adults with GD type 1, for whom enzyme replacement therapy (ERT) is unsuitable or not a therapeutic option. In this study, we report the effect of miglustat ($Zavesca^{(R)}$) in three Korean GD patients. Materials and Methods: Clinical findings comprising age at diagnosis, presenting signs, laboratory findings at diagnosis, GBA activity and mutations, and clinical courses of the three patients were reviewed. Results: Miglustat was administered to three patients who reported allergic reactions during intravenous imiglucerase infusions. One patient withdrew after 15 months of miglustat administration owing to continuous elevation of disease biomarker levels (chitotriosidase, acid phosphatase, and angiotensin-converting enzyme). Poor adherence to medication was suspected but was denied by the patient. In the other two patients, platelet count and levels of hemoglobin and other biomarkers remained stable during miglustat administration. However, they suffered from severe diarrhea and weight loss, which led to miglustat discontinuation after 1 and 12 months of administration. Conclusion: Our study shows that although miglustat is suggested to GD patients as an alternative treatment to ERT, significant adverse reactions may lead to discontinuation of miglustat. In addition, it is difficult to monitor the drug adherence.

• Journal of Microbiology and Biotechnology
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• v.27 no.9
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• pp.1716-1723
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• 2017

The rapid dissemination of extended-spectrum ${\beta}$-lactamase (ESBL)-producing Escherichia coli has significantly contributed to public health hazard globally. A total of 281 E. coli strains recovered from pigs and chickens between 2009 and 2015 in South Korea were analyzed for ESBL production. ESBL phenotypes were recognized in 14 E. coli isolates; ten and three ESBL-producing isolates carried only $bla_{CTX-M}$ and $bla_{CMY}$ genes, respectively, and one isolate harbored both genes. The predominant CTX-M and CMY types were CTX-M-15 (n = 8) and CMY-2 (n = 3). We also detected ESBL-producing isolates harboring $bla_{CTX-M-65}$, $bla_{CTX-M-14}$, $bla_{CMY-6}$, $bla_{DHA-1}$, and $bla_{TEM-1}$ genes. All ESBL-producing isolates showed resistance to the extent of the fourth generation cephalosporins, along with multidrug resistance. CTX-M-15-producing isolates showed higher MIC values than CTX-M-14- and CTX-M-65-producing isolates. The $bla_{CTX-M}$ and $bla_{CMY}$ genes have the potential to be transferable. The spreading of $bla_{CMY}$ and $bla_{CTX-M}$ genes was arbitrated mainly via Frep and IncI1 plasmids. Our isolates showed clonal diversity in PFGE analysis. This is the first report of E. coli isolates carrying $bla_{CMY-6}$ in chicken from South Korea. The emergence of CMY-6 ESBLs in a population of poultry suggests that extensive screening with long-term surveillance is necessary to prevent the dissemination of ESBL from chicken to human.

• Journal of the Korea Institute of Military Science and Technology
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• v.17 no.1
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• pp.129-134
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• 2014

We have developed a cost-effective and facile method to manufacture a pouch-type chemical vapor sampler. Originally, the sampler was developed by U. S. Army Natick Soldier Research, Development, and Engineering Center(NSRDEC) to determine the protective capability of individual protective ensembles or Man-in-Simulant Test (MIST). They used a selectively permeable high density polyethylene(HDPE) as front membrane and aluminum/ Nylon barrier film as an impermeable back sheet in order to mimic the actual adsorption process that occurs when the skin is exposed to chemical weapons. However, it costs over twenty dollars per sampler and the minimum of quantity is 2500 per order. In addition, it is inconvenient to employ a variety of adsorbents into the sampler, which could prevent MIST researchers to do various tests for development of MIST methodologies. Here, we report the simple method to manufacture the sampler in a laboratory scale. All the materials we used are easily obtainable and inexpensive. In addition, all the procedures we perform are generally known. We used methyl salicylate(MeS) vapor to be adsorbed into the sampler and employed several different adsorbents to evaluate the performance of samplers. The results obtained by home-made samplers and commercially avaliable one showed no significant differences. Also, MeS vapor was selectively adsorbed into the sampler depending on adsorbents. We conclude that home-made samplers are capable of collecting any kind of chemical vapor for a variety of purposes.

• Journal of Chest Surgery
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• v.35 no.6
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• pp.471-474
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• 2002

Transfusion associated graft-versus-host disease is a rare but fatal disease reported after open heart surgeries mainly in Asian people. It can be prevented by pretransfusion gamma irradiation of the fresh whole blood. In this presentation, we report a case of transfusion associated graft-versus-host disease following coronary artery bypass surgery in a 61 year-old male patient. Postoperatively the patient was transfused urgently with 2 units of fresh whole blood from his two sons. He was discharged on postoperative 10 day with only symptom of mild diarrhea. Two days after discharge, he was readmitted because of persistent diarrhea, systemic erythema and high fever. On laboratory examinations, he showed findings of failure in liver, kidney, gastrointestinal tract, and bone marrow. Hemodynamically he deteriorated acutely and died of multiple organ failure on 17th postoperative day. This has been our first experience since we started open heart program at our hospital and we changed our policy for the transfusion of the fresh whole blood after this event.

• The Journal of Internal Korean Medicine
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• v.24 no.2
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• pp.374-379
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• 2003

Herbal remedies are enjoying a growing popularity in the world. But, we still pay few attention to the potential hepatotoxicity of herbal remedies, and there are only a few reports about that. We recently experienced a case of drug induced hepatitis caused by ingestion of Dyctamnus dasycarpus, one of herbs used for dermatologic disorders. The patient, a 38 year old woman, was admitted due to jaundice after ingestion of some herbal mixture containing Dyctamnus dasycarpus to treat her atopic dermatitis for 4 months. Other possible causes of liver injury were excluded by laboratory test and imaging studies, and we could find a report on similar cases caused by ingestion of Dyctamnus dasycarpus. During conservative treatment, elevated liver enzyme and total bilirubin level slowly returned to normal value. This case stresses the need to warn the potential hepatotoxicity of Dyctamnus dasycarpus, especially for a long time ingestion. So we suggest the necessity of toxicology screen at regular intervals during long time ingestion of herbal medicine, and further evaluation of the safety and toxicity of Dyctamnus dasycarpus.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.94-99
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• 2010

Obesity-related glomerulopathy (ORG) is a secondary form of focal and segmental glomerulosclerosis (FSGS) manifesting as proteinuria and progressive renal dysfunction that results from maladaptive glomerular response to increasing adiposity. Reports of ORG progressing to end stage renal diseases in rare in the pediatric population. We report a 9-year-old boy with obesity (body mass index $35\;kg/m^2$) who was diagnosed with ORG presenting with proteinuria. He was diagnosed with obesity-related glomerulopathy based on the laboratory, urinary, and kidney biopsy finding. In spite of treatment with angiotensin- converting enzyme (ACE) inhibitor and/or, angiotensin-receptor blocking agent, the degree or amount of proteinuria increased and renal function declined continuously. His BMI did not decrease and eventually progressed to chronic renal failure. Consequently, obese patients should be monitored for proteinuria, which may be the first manifestation of FSGS, a lesion that may be associated with serious renal sequelae.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• 한국신재생에너지학회:학술대회논문집
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• 2006.06a
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• pp.110-112
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• 2006

Membrane electrode assembly (MEA) for polymer electrolyte fuel cell (PEFC) are commonly prepared in the research laboratory by spraying, screen-printing and brushing catalyst slurry onto membrane or other support material like carbon paper or polyimide film in a batch style. These hand applications of the catalyst slurry are painstaking process with respect to precision of catalyst loading and reproducibility. It has been generally mentioned that the adoption of continuous process is very helpful to develop the reliable product. In the present work, we report the results of using continuous type coater with doctor-blade to coat catalyst slurry for preparing the MEA catalyst layers In a faster and highly reproducible fashion. We show that while expectedly faster than batch style, the machine coater requires the use of slurry of appropriate composition and a properly selected transfer decal material in order to achieve superior MEA plat lnw loading reproducibility. To make highly viscous catalyst slurry that is imperative for using coater, we use 40wt.% Nafion solution and minimize the content of organic solvent. And the choice of proper high surface area catalyst is important in the viewpoint of making well-dispersed slurry. After catalyst coating onto the support material, we transferred the catalyst layer to both sides of Nafion membrane by hot-pressing In this case, the degree of transfer was Influenced by hot-pressing condition including temperature, pressure, and time. To compare the transferring ability, we compared so many films and detaching papers. And among the support, polyethylene terephthalate(PET) film shows the prominent result.