• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.96-102
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• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.12 no.2
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• pp.199-206
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• 2009

Purpose: To analyze the clinical spectrum of posttransplantation lymphoproliferative disorder (PTLD) after liver transplantation in children. Methods: From January 1988 to June 2009, we retrospectively reviewed the medical records of 8 PTLD cases among 148 pediatric patients underwent liver transplantation. The age at transplantation, time of presentation after transplantation, clinical manifestations, histologic diagnosis, results of EBV (Epstein-Barr virus) assessments, managements and outcomes of PTLD were investigated. Results: The prevalence of PTLD in liver transplant pediatric recipients was 5.4% (8 of 148). The mean age of patients was 25.4${\pm}$21.3 months (range 10 to 67 months). Seven of 8 patients (87.5%) underwent liver transplantation before 1 year of age. The common clinical presentations were persistent fever (8 of 8, 100%) and bloody diarrhea (6 of 8, 75%). PTLD was diagnosed with gastrointestinal endoscopic biopsies in five patients and surgical biopsies in three. Histologic findings showed early lesion in three patients, polymorphic in two, and monomorphic in three. Burkitt lymphoma and lymphoblastic lymphoma were found in two of 3 monomorphic patients. Seven of 8 patients were found with EBV-positive. Eight patients were treated with dose reduction of immunosuppressants and infusion of ganciclovir. Rituximab was added to four patients. PTLD were successfully managed in all patients except one who died of sepsis during chemotherapy. Conclusion: Major risk factor of PTLD was to undergo liver transplantation before 1 year of age. Continuous monitoring for EBV viral load and gastrointestinal endoscopic biopsy may be useful to early detection of PTLD.

• Childhood Kidney Diseases
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• v.11 no.2
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• pp.178-184
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• 2007

Purpose : Since the first report by Mendoza in 1990, there have been several studies reporting that long-term intravenous methylprednisolone(MP) pulse therapy combined with cyclosporin A(CsA) or cyclophosphamide might be beneficial for the treatment of steroid resistant focal segmental glometulosclerosis(FSGS). We investigated the therapeutic effect of long-term MP pulse therapy without CsA or cyclophosphamide on steroid resistant FSGS. Methods : The medical records of the 10 steroid resistant FSGS patients who were treated with MP pulse therapy by the Mendoza protocol without CsA or cyclophosphamide in our hospital were retrospectively reviewed. Results : The median age at onset was 2.6 years(range 1.1-10.6 years) and the median age at the initiation of therapy was 5.7 years(range 1.8-20 years). The median duration of follow-up was 35 months(range 4-132 months). At the end of therapy, 5 patients achieved complete remission(50%) and 2 partial remission(20%), one of whom relapsed after the therapy. Three patients did not respond to the therapy, two of whom progressed to end-stage renal failure during the therapy eventually requiring kidney transplantation. Conclusion : Intravenous long-term MP pulse therapy without CsA or cyclophosphamide by the Mendoza protocol may be effective in a subset of patients with steroid-resistant FSGS.

• Radiation Oncology Journal
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• v.22 no.3
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• pp.177-183
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• 2004

Purpose: Authors would report the results of sequential CHOP chemotherapy (cyclophosphamide, adriamycin, vincristine, and prednisone) and involved field radiotherapy (IFRT) for early stage nasal natural killer/T-cell Iymphoma (NKTCL). Materials and Methods: Fourteen among 17 patients, who were registered at the Samsung Medical Center tumor registry with stage I and II nasal NKTCL from March 1995 to December 1999 received this treatment protocol. Three to four cycles of CHOP chemotherapy were given at 3 weeks' interval, which was followed by local IFRT including the known tumor extent and the adjacent draining lymphatics. Results: Favorable responses after chemotherapy (before IFRT) were achievable only in seven patients (5 CR's+2 PR's: 50%), while seven patients showed disease progression. There were six patients with local failures, two with distant relapses, and none with regional lymphatic failure. The actuarial overall survival and progression-free survival at 3 years were 50.0% and 42.9%. All the failures and deaths occurred within 13 months of the treatment start. The factors that correlated with the improved survival were the absence of 'B' symptoms, the favorable response to chemotherapy and overall treatment, and the low risk by international prognostic index on univariate analyses. Conclusion: Compared with the historic treatment results by IFRT either alone or followed by chemotherapy, the current trial failed to demonstrate advantages with respect to the failure pattern and survival. Development of new treatment strategy in combining IFRT and chemotherapy is required for improving outcomes.

• The Journal of the Korean bone and joint tumor society
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• v.20 no.2
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• pp.54-59
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• 2014

Purpose: We report the diagnosis, treatment outcomes and prognosis of the patients with soft tissue malignant myoepithelioma in the extremities. Materials and Methods: We retrospectively reviewed 6 patients with soft tissue malignant myoepithelioma in the extremities who were treated at our institution between 2008 and 2014. Two patients received unplanned excision at another hospital and remaining 4 patients underwent the biopsy procedures and received wide excision at our hospital. Results: There were 3 men and 3 women with mean age of 41 (33-54) years. The average follow up was 28 (9-45) months. Among the 6 patients, only 4 patients underwent biopsy procedures under the impression of malignant soft tissue sarcoma. Surgical margins for these 4 patients were negative. Two patients who had unplanned excision received another re-excision and one of them showed no residual tumor in the resected specimen. Local recurrences were developed in all patients and distant metastasis in 4 patients. All 4 patients who developed distant metastasis died due to disease progression. Among the 2 patients who developed local recurrence only, one patient has another local recurrence after re-operation and remaining one patient is no evidence of disease for 2 years after resection of locally recurred mass. Conclusion: Soft tissue malignant myoepithelioma in the extremities is a rare disease and shows an aggressive behavior. Appropriate biopsy under the impression of soft tissue malignancy is necessary and complete surgical resection with wide margins is the recommended treatment of choice.

• Tuberculosis and Respiratory Diseases
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• v.47 no.3
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• pp.347-355
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• 1999

Background: Phospholipase C(PLC) plays a central role in cellular signal transduction and is important in cellular growth, differentiation and transformation. There are currently ten known mammalian isozymes of PLC reported to this date. Hydrolysis of phosphatidylinositol 4,5-bisphosphate($PIP_2$) by PLC produces two important second messengers, inositol 1,4,5-trisphosphate($IP_3$) and diacylglycerol. PLC-${\gamma}1$, previously, was known to be activated mainly through growth factor receptor tyrosine kinase. Other mechanisms of activating PLC-yl have been reported such as activation through tau protein in the presence of arachidonic acid in bovine brain and activation by $IP_3$, phosphatidic acid, etc. Very recently, another PLC-${\gamma}1$ activator protein such as tau has been found in bovine lung tissue, which now is considered to be AHNAK protein. But there has been no report concerning AHNAK and its associated disease to this date. In this study, we examined the expression of the PLC-${\gamma}1$ activator, AHNAK, in lung cancer specimens and their paired normal. Methods: From surgically resected human lung cancer tissues taken from twenty-eight patients and their paired normal counterparts, we evaluated expression level of AHNAK protein using immunoblot analysis of total tissue extract Immunohistochemical stain was performed with primary antibody against AHNAK protein. Results: Twenty-two among twenty-eight lung cancer tissues showed overexpression of AHNAK protein (eight of fourteen squamous cell lung cancers, all of fourteen adenocarcinomas). The resulting bands were multiple ranging from 70 to 200 kDa in molecular weight and each band was indistinct and formed a smear, reflecting mobility shift mainly due to proteolysis during extraction process. On immunohistochemistry, lung cancer tissues showed a very heavy, dense staining with anti-AHNAK protein antibody as compared to the surrounding normal lung tissue, coresponding well with the results of the western blot Conclusion: The overexpression of PLC-${\gamma}1$ activator protein, AHNAK in lung cancer may provide evidence that the AHNAK protein and PLC-${\gamma}1$ act in concerted manner in carcinogenesis.

• Tuberculosis and Respiratory Diseases
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• v.42 no.4
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• pp.502-512
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• 1995

Background: One quarter to one third of patients with NSCLC present with primary tumors that although confined to the thorax are too extensive for surgical resection. Until resently standard treatment for these patients had been thoracic radiation, which produces tumor regression in most patients but few cures and dismal 5-year survival rate. The fact that death for most patients with stage III tumors is caused by distant metastases has promped a reevaluation of combined modality treatment approaches that include systemic chemotherapy. Therefore, we report the results observed in a study to evaluate the effect of multimodality treatment in locally advanced non-small cell lung cancer from 1/91 to 8/93 in CNUH. Method: We grouped the patients according to the treatment modalities and evaluated response rate, median survival and the effect of prognostic variables. Among 67 patients evaluated, twenty seven patients classified with group A, received cisplatin and etoposide containing combination chemotherapy alone, eighteen patients, classified with group B, received chemotherapy and radiotherapy, fifteen patients, group C, received neoadjuvant or adjuvant chemotherapy and surgery with/without radiation therapy, seven patients, group D, received only supportive care. Result: The major response rate for group A and B was 37% and 61% respectively. There was no statistically significant difference in response rate between A and B groups(p=0.97). The analysis of prognostic factors showed that differences of age, sex, pathology, blood type, smoking year, stage and ECOG performance did not related to improvement in survival. Median survival time was 8.6 months for group A, 13.4 months for group B, 19.2 months for group C, and 5.4 months for group D, respectively and there was statistically significant difference(p=0.003), suggesting that multimodality therapy was associated with signigicant improvement in survival. Subset survival analysis showed a significant therapeutic effect for earlier stage and good performance state(p=0.007, 0.009, respectively). A possible survival advantages were observed for major response groups. Conclusion: It was suggested that multimodality therapy for the management of patients who had stage III disease, has yielded good median survival and long survival for seleted patients. But, it is necessory to validate above result with further investigation in large scale and in prospective randomized trials.

• Research in Plant Disease
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• v.14 no.1
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• pp.15-20
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• 2008

Three isolates of Cucumber mosaic virus (CMV) were isolated from weed hosts showing typical mosaic symptoms, and some properties of the viruses were investigated. CMV isolates, designated as Is-CMV, Jd-CMV and Pla-CMV from Isodon inflexus, Jeffersonia dubia and Phryma leptostachya var. asiatica, respectively, were identified and characterized by biological reaction in several host plants, serological property, dsRNA analysis, reverse transcription-polymerase chain reaction (RT-PCR), restriction fragment-length polymorphism (RFLP). All isolates systemically infected in Nicotiana benthamiana, Cucurbita pepo cv. Black beauty and Cucumis sativus, and did not reveal any differences in these host plants between the isolates. However, remarkable difference in the symptoms was found between the CMVs in Capsicum annuum. Is-CMV induced an asymptomatic symptoms, while Jd-CMV and Pla-CMV produced severe mosaic symptoms in C. annuum plants. In dsRNA analysis, all isolates revealed four major bands with estimated molecular size of 3.4, 3.2, 2.1 and 1.0 kbp. The cDNAs of coat protein gene of the isolates were amplified by RT-PCR using a genus-specific single pair primers that designed to amplify a DNA fragment of approximately ranging from 938 to 966 bp. By restriction mapping analysis using RFLP of the RT-PCR products as well as by serological properties of gel diffusion test, the CMV isolates belong to a typical members of CMV subgroup IA. This is the first report on the occurrence of CMV in the three weed hosts.

• Journal of Chest Surgery
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• v.34 no.10
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• pp.787-791
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• 2001

Coronary artery aneurysm is a rare disorder. It is defined as abnormal dilatation of coronary artery with diameter exceeding 1.5 times the adjacent normal segments. The incidence of coronary aneurysm is 2.6% in Caucasians and 0.25% in Asians. Over half of the former were associated with atherosclerotic coronary artery disease. However, 70 percents of the latter were nonobstructive coronary artery aneurysms. Coronary artery fistula is a rare disorder. It has been identified in only 0.2% of routine cardiac angiographic studies conducted over a 10-year period. The clinical spectrums are various, asymtomatic, asymptomatic murmur, dyspnea on exertion, fatigue, and congestive heart failure. The right coronary artery (56%) and left coronary artery(36%) are mainly involved in the origin site of congenital coronary artery fistula. The draining site of fistula are right ventricle(39%), right atrium(33%), and pulmonary artery(20%) and so on. This 54 years-old woman had intermittent chest tightness and an abnormal mediastinal shadow on chest roentgenogram and chest C-T examination, which was diagnosed as a mediastinal mass such as teratoma. We performed the operation under left anterolateral thoracotomy for mass excision. However, we knew the mass had the pulsating arterial blood flow through a fine needle puncture of the mass and that it was attached to the left ventricle. We believed the excision of mass on beating heart would be very dangerous. Therefore, we closed the wound without excising the mass. After several days, we performed an echocardiography and coronary angiography, We knew it was cardiac tumor. Incidentally, the patient had a tortuous coronary fistula from the right coronary artery to pulmonary trunk. Using cardiopulmonary bypass with moderate systemic hypothermia, the mass was resected and the fistula was clipped with surgical clips. Pathology of the specimen was a giant coronary arterial aneurysm.

• Research in Plant Disease
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• v.25 no.1
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• pp.8-15
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• 2019

Plum pox virus (PPV) is a significant viral disease in Prunus spp. worldwide. A nationwide survey was started in Prunus spp. orchards, since PPV was first detected from peach in Korea, 2015. During 2016-2017, samples were collected from 30,333 trees in 1,985 orchards of stone fruits in 8 provinces and 4 cities, Korea and tested by RT-PCR using specific PPV primer set. As a result, 21 trees including peach (9 trees), Japanese apricot (4 trees), plum (1 tree), apricot (7 trees) in 10 orchards were infected and controlled by eradication program. Amplicons of the expected size (547 bp) were obtained from total RNA of seven peach trees in 2016, and directly sequenced. BLAST analysis revealed the highest nucleotide (NT) identity (99%) with a PPV D isolates (LC331298, LT600782) in Genbank. The seven isolates from shared nt sequence identities of 98 to 100% with one another. Phylogenetic analysis showed the isolates in peach clustered closely with the PPV-D isolates from Korea, Japan, USA, and Canada. This is, to our knowledge, the first report of the presence of PPV in Prunus spp. orchards in Korea, 2016-2017, we hope that our results and efforts will contribute to effective measures for eradication of PPV.