Jeon, Se Yun;Choi, Suk Joo;Kim, Yong Bae;Nam, Hae Seon;Park, Kwi Sung;Baek, Kyung Ah;Park, Joon Soo
Clinical and Experimental Pediatrics
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v.49
no.11
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pp.1186-1193
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2006
Purpose : Enterovirus infection is a type of viral infection that occurs relatively frequently in children during summer. It has clinical symptoms of non-specific fever, aseptic encephalomeningitis, gastrointestinal diseases, skin rash and, hand-foot-mouth disease. However, it can also occcaisionally, result in fatal symptoms like myocarditis, epicardial inflammation, transverse myelitis, quadriplegia and etc. There have been epidemic enterovirus studies, but not in the Chungnam area. Therefore, we undertook this study in order to comprehend the cause viruses in this area. Methods: We enlisted 157 children hospitalized with enteroviral infections at Soonchunhyang University hospital in Cheonan between May and August 2005. Cerebrospinal fluids or feces were collected during the acute phase after hospitalization, and observed the cytopathic effects caused by enterovirus and using reverse transcription polymerase chain reaction (RT-PCR). Results : The number of children hospitalized due to possible enteroviral infection during the period of study was 157. The number of children who tested positive with the reverse transcription polymerase chain reaction totalled 32 cases (20.4 percent). Among the children with entroviral diseases, 20 were male and 12 were female, thus the sex ratio of male to female was 1.67:1. Their clinical symptoms included fever most frequently (93.7 percent), was followed by headaches (90.0 percent), meningeal irritation signs (65.0 percent), and abdominal pain (30.0 percent). As for the type of isolated enterovirus, there were 17 cases of echovirus 18 and 6 cases of coxsackievirus B5. Furthermore, there were 2 cases of echovirus 9, 1 case of coxsackievirus A6 and coxsackievirus B3, respectively. But 5 cases were not determined by genotype. Conclusion : Echovirus 18 is circulating in Korea. We reported on identified enteroviruses, including echovirus 18, using RT-PCR in the Chungnam area during the summer of 2005.
Background : Pulmonary Langerhans cell histiocytosis forms part of a spectrum of diseases that are characterized by a monoclonal proliferation and infiltration of organs by Langerhans cells. Several organ systems may be involved in Langerhans cell histiocytosis, including the lungs, bone, skin, pituitary gland, liver, lymph nodes and thyroid. Pulmonary histiocytosis X represents 2.8% of interstitial lung disease. Here we present the clinical, radiological, therapeutic aspects of pulmonary histiocytosis X. Method : Fourteen cases of biopsy-proven pulmonary histiocytosis X patients who were diagnosed in Seoul National University Hospital during the period from January 1990 to December 1998 were analyzed retrospectively. Result : There were 12 men and 2 women in this study. The initial presenting symptoms were dyspnea, cough, chest pain, which was associated with the pneumothorax, and chest radiography abnormalities. Only 8 patients (57%) were smokers. There were 5 patients with extra-pulmonary histiocytosis (pituitary, bone, skin). Eight patients had received the chemotherapy. There were no mortalities and only one patient experienced an aggravation of symptom during the follow-up period. Conclusion : In contrast to previous reports from other countries, the patients with pulmonary histiocytosis X in this study presented with several different clinical characteristics, such as a male predominance, relatively low smoker's rate, and a better prognosis.
Journal of The Korean Society of Inherited Metabolic disease
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v.16
no.1
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pp.24-33
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2016
Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.
Purpose: This study was undertaken to evaluate the clinical features and complication such as esophageal stricture in children with corrosive esophagitis. Methods: We retrospectively reviewed medical records of 31 children who accidentally ingested corrosive materials and visited to emergency room of Chonnam National University Hospital from Jan. 1992 to Dec. 1999. Twenty-one children were examined by upper gastrointestinal (UGI) endoscopy to evaluate location and severity of caustic injury. Results: 1) Among 31 patients, there were 20 males and 11 females and the ratio of male to female was 2:1. Average age at diagnosis was 2.3 years (12 months to 9.8 years). Twenty-seven (87.1%) patients were accidentally ingested vinegar. 2) Initial presenting symptoms were dysphagia (54.8%), vomiting (48.3%), chemical burn on lips and skin (45.2%), excessive salivation (45.2%), coughing and respiratory grunting (32.3%) and aspiration pneumonia (9.8%). 3) UGI endoscopic examination showed caustic injury in 17 children: grade I in 8, grade II in 7 and grade III in 2. The region of caustic injury was proximal esophagus in 5, distal esophagus in 3, entire esophagus in 9 and stomach in 6. 4) Corrosive esophageal strictures developed in 6 children (19.4%) and gastric outlet stricture in 1 (3.2%). All of them showed grade II or III caustic injury on endoscopic examination. Conclusion: The development of esophageal stricture was related to the severity of the caustic injury. Early UGI endoscopic examination in caustic ingestion seems to be useful for prediction of development of caustic stricture.
Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$$aureus$) and $Pseudomonas$$aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.
Journal of the Korean Applied Science and Technology
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v.37
no.1
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pp.124-132
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2020
The purpose of this study was to investigate the biological activities such as cytotoxicity and anti-inflammation using Manjakani (Quercus infectoria Olivier) extract. Manjakani was extracted from hot DW and 80% ethanol. Cell viability was assessed using MTT assay on RAW 264.7 cells. Also, anti-inflammatory activities were measured through changes in the levels of nitric oxide (NO), prostaglandin E2 (PGE2), leukotrien B4 (LTB4), pro-inflammatory cytokines (IL-1β, IL-6 and tumor necrosis factor (TNF)-α) and transcription factor on LPS-induced RAW264.7 cells. The results confirmed that significant cytotoxicity does not appear in the concentration range of 1, 5, and 10 ㎍/㎖ of both extracts of this study. The production of NO was slowed by approximately MDE 37.2% and MEE 43.7% at 10 ㎍/㎖ concentration. Also, level of PGE2 and LTB4 was decreased MDE 30.9%/MEE 43.7% and MDE 37.1%/MEE 43.7%. In the case of inflammatory cytokine was reduced to MDE 38.8%/MEE 50.8% for IL-1β, MDE 35.0%/MEE 44.2% for IL-6 and MDE 31.9%/MEE 36.6% for TNF-α at 10 ㎍/㎖ concentration. The mRNA expression of NF-κB, iNOS and COX-2 significantly decreased by MDE 44.0%/MEE 16.0%, MDE 44.0%/MEE 55.0% and MDE 45.0%/MEE 40.0%, respectively, following the 10 ㎍/mL sample treatment when compared to the control. Both extracts were effective in anti-inflammatory activity. In addition, both extracts showed efficient changes of production of NO, PGE2, LTB4, pro-inflammatory cytokines and transcription factor. But MEE was found to have a higher inhibitory effect than MDE. In other words, Manjakani was showed significant biological activities showing anti-inflammation without cytotoxicity. These results will be provided as fundamental data for further development of the new health food and therapeutics related to the results above.
Jeong, Il Cheon;Kim, Ji Tae;Hwang, You Sik;Kim, Jung A;Lee, Jae Seung
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.
Background: The radial arteries are being used more often for coronary artery bypass grafting, We tried to the endoscopic radial artery harvest to reduce the cosmetic problems and neurologic complications of the conventional open harvesting and report the techniques and early results. Material and Method: The 86 patients underwent coronary artery bypass grafting between May 2003 and April 2005 had their nondominant radial artery endoscopically removed through a 2 cm incision at the wrist. The radial pedicle was dissected and was divided at antecubial area through a 5 mm counterincision. Result: The 23 patients complained of neuralgias on territory of superficial raidal none but no one complained of neuralgias on territory of lateral antebrachial cutaneous none. There was no functional impairment of the hand. There was no wound complication except a localized hematoma. All patients were contacted by telephone after postoperative 7.9$\pm$3.6 months. The 4 patients still complained of neuralgia. All the patients were satisfied with the aesthetics of the wounds. The multidetectional tomography was done on the 66 patients for the estimation of early patency of radial artery. There were 2 cases of stenosis and a case of occlusion. Conclusion: Endoscopic radial artery harvest had no functional impairment of the hand, lesser rate of neurologic complications and outstanding aesthetics. The results of early patency of the radial artery was similar to conventional methods. Therefore, we think that endoscopic radial artery harvest is the optimal procedure.
Cho, Sung Yoon;Kim, Ki-Yong;Kim, Su Jin;Sohn, Young Bae;Maeng, Se Hyun;Kim, Chi Hwa;Ko, Ah-Ra;Song, Junghan;Yeau, Sung-Hee;Kim, Kyung-Hyo;Jin, Dong-Kyu
Journal of The Korean Society of Inherited Metabolic disease
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v.12
no.1
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pp.5-13
/
2012
I-cell disease (mucolipidosis type II; MIM 252500) and pseudo-Hurler polydystrophy (mucolipidosis type III; MIM 252600) are disorders caused by abnormal lysosomal transport in cells. The presence of numerous inclusion bodies in the cytoplasm of fibroblasts, a lack of mucopolysacchariduria, increased lysosomal enzyme activity in serum, and decreased GlcNAc-phosphotransferase activity are hallmark. Here, we attempted to investigate phenotypical and biochemical characteristics of the knockoutmouse of GlcNAc-phosphotransferase ${\alpha}/{\beta}$ subunits; in addition, we also attempted to determine whether the lysosome enriched fraction derived from placenta can be beneficial to phenotype and biochemistry of the knockout mouse.We found that the knockout mouse failed to thrive and had low bone density, as is the case in human. In addition, skin fibroblasts from the animal had the same biochemical characteristics, including increased lysosomal enzyme activity in the culture media, in contrast to the relatively low enzyme activity within the cells. Intravenous injection of the lysosome rich fraction derived from placenta into the tail vein of the animal resulted in a gain of weight, while saline injected animals didn't.In conclusion, our study demonstrated the phenotypical and biochemical similarities of the knockout mouse to a mucolipidosis type II patient and showed the therapeutic potential of the lysosome enriched fraction. We admit that a larger scale animal study will be needed; however, the disease model and the therapeutic potential of the lysosome enriched fraction will highlight the hope for a novel treatment approach to mucopolipidosis type II, for which no therapeutic modality is available.
Purpose: This study was undertaken to evaluate the factors correlated with the clinical course and outcome in patients of Henoch-Sch${\ddot{o}}$nlein Purpura. Methods: The medical records of 104 children diagnosed with Henoch-Sch${\ddot{o}}$nlein Purpura (HSP) from January 1996 to April 2006 were reviewed retrospectively. The patients were divided into two groups: patients with Gastrointestinal (GI) symptoms and those without GI symptoms. When there were joint, scrotum, and renal symptoms except for skin lesion in whole HSP, those patients were excluded. The history of acute infection, duration of admission, treatment requirement, recurrence of HSP, CBC, stool occult blood test, abdominal ultrasonographic findings and GI endoscopic findings were reviewed. Results: Among 104 patients, patients with GI symptoms included 66 cases (63.5%), those without GI symptoms accounted for 38 cases (36.5%). GI symptoms included: abdominal pain in 57 cases (54.8%), vomiting 21 cases (20.2%), GI bleeding 5 cases (4.8%), nausea 3 cases (2.9%) and diarrhea 3 case (2.9%). Positive GI symptoms and GI mucosal lesions on GI endoscopy had a statistically significant correlation with increased admission duration, treatment requirement, recurrence of HSP, and positive stool occult blood. Six cases with small intestinal wall thickening were noted on abdominal ultrasonography. Six cases of hemorrhagic gastritis and hemorrhagic duodenitis, 3 cases of duodenal ulcer, 3 cases of hemorrhagic gastritis and duodenal ulcer, 2 cases of hemorrhagic duodenitis and colitis, and 1 case of colitis were noted on GI endoscopy. Conclusion: These results suggest that GI endoscopic examination may be helpful for the diagnosis and treatment of children with HSP.
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