• Journal of Genetic Medicine
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• v.1 no.1
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• pp.39-43
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• 1997

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is inherited maternally, in which the MTTL1*MELAS 3243 mutation has been most commonly found as a heteroplasmy of A to G point mutation in the $tRNA^{Leu(UUR)}$ gene. The MTTL1*MELAS 3271 mutation is known to be the second common mutation, though clinical features of both mutations are not remarkably different. Recently, a variety of minor mutations have been reported in patients with MELAS. In this study, major efforts have been made to investigate the allele frequency of major three mutations including MTTL1*MELAS 3243, 3252, 3271 in 10 Korean families with MELAS probands. The PCR and subsequent direct sequencing of the PCR product in the regions spanning these three mutation sites were employed to identify the mutation in each proband. All family members have been screened for the presence of these three mutations by PCR-RFLP assay using Apa I, Acc I and Bfr I restriction enzymes. The MTTL1*MELAS 3243 mutation was most commonly found (7 out of 10 families tested) followed by the MTTL1*MELAS 3271 which was identified in 1 out of 10 families. In the remaining 2 families none of three mutations were found, indicating the presence of either nuclear mutation or yet unidentified mitochondrial DNA mutation in these families.

• Journal of Preventive Medicine and Public Health
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• v.50 no.2
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• pp.127-132
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• 2017

Objectives: The aim of this study was to determine the prevalence of asymptomatic carriers of group A ${\beta}-hemolytic$ streptococci (GAS) in children living in a rural community and to investigate the association between episodes of acute pharyngitis and carrier status. Methods: Throat swabs were collected from September to November 2013 among children 5-13 years of age from a rural community (Maria Ignacia-Vela, Argentina). The phenotypic characterization of isolates was performed by conventional tests. Antimicrobial susceptibility was assayed for penicillin, tetracycline, chloramphenicol, erythromycin, and clindamycin (disk diffusion). The minimum inhibitory concentration was determined for penicillin, cefotaxime, tetracycline, and erythromycin. Results: The carriage of ${\beta}-hemolytic$ streptococci was detected in 18.1% of participants, with Streptococcus pyogenes in 18 participants followed by S. dysgalactiae ssp. equisimilis in 5. The highest proportion of GAS was found in 8 to 10-year-old children. No significant association between the number of episodes of acute pharyngitis suffered in the last year and the carrier state was detected (p>0.05). Tetracycline resistance (55.5%) and macrolide-resistant phenotypes (11.1%) were observed. Resistance to penicillin, cefotaxime, or chloramphenicol was not expressed in any streptococcal isolate. Conclusions: The present study demonstrated significant throat carriage of GAS and the presence of group C streptococci (S. dysgalactiae ssp. equisimilis) in an Argentinian rural population. These results point out the need for continuous surveillance of GAS and non-GAS carriage as well as of antimicrobial resistance in highly susceptible populations, such as school-aged rural children. An extended surveillance program including school-aged children from different cities should be considered to estimate the prevalence of GAS carriage in Argentina.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.75-83
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• 2000

Cyclic vomiting syndrome(CVS) is a disorder of unknown etiology that is characterized by its clinical pattern of intermittent episodes of severe vomiting, similar in time of onset and duration, with no symptoms during the intervening period. By definition, CVS is an idiopathic disorder that requires exclusionary laboratory testing. Not only can it be mimicked by many specific disorders, eg, surgical, neurologic, endocrine, metabolic, renal, but within idiopathic CVS there may be specific subgroups that have different mechanisms. It has been reported that CVS usually begins in toddlers and resolves during adolescence. Migraine is also self-limiting episodic condition of children and the clinical features of migraine and CVS show considerable similarity. It is proposed that CVS is a condition related to migraine. This paper reports clinical courses of long term follow-up and reversible EEG changes in three patients whose history included CVS. Clinical situations of attack interval, duration and associated symptoms had changed variablely in each patients through long term follow-up period. Cyclic vomiting subsided in two cases. Abnormal delta activity was seen during episodes and resolved at follow-up, when the patient asymptomatic. The brain wave changes support the interpretation of CVS as a migraine variant.

• Korean Journal of Clinical Pharmacy
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• v.16 no.1
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• pp.14-22
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• 2006

Purpose: To determine the short (1 year of transplant) and long-term (1-5 years of transplantation) risk factors affecting the graft and patient survival in kidney transplantation recipients. Methods: Records of 149 patients who received kidney transplantation in 1996 from Asan Medical Center were followed for 5 years retrospectively. Results: All patients initiated triple immunosuppressive therapy with cyclosporine, prednisone and azathioprine. One, two, three, four, five year patient and graft survival rates were 98.7%, 98.0%, 98.0%, 97.3%, 97.3%, and 96.6%, 95.2%, 94.6%, 92.5%, 91.8%, respectively. There were 30 cases of acute rejection (AR) and 6 cases of chronic rejection (CR) within $2.1{\pm}3.2$ months and $42.1{\pm}13.2$ months of transplantation, respectively. The risk factors for AR were donor's age older than 30 years (p=0.02) and cardiovascular disease (p=0.05). The risk factors for CR were AR (p=0.0169) and episode of complications (p=0.0330). Increasing period of dialysis (p=0.0473), episodes of AR (p<0.0001) and complication (p=0.0317) were significant factors for graft loss. Seven grafts were lost from noncompliance during 1-5 year period. The most com- mon cause of the graft loss for both periods was the graft rejection. The graft survival rate was significantly lower in patients with than without rejection episodes (77.4% vs. 90.0%, p=0.002). Conclusions: Survival rate of the graft with rejection was significantly lower. The risk factors affecting AR were donor's age older than 30years and CVD. AR and episode of complications within 1year were the risk factors for CR and graft loss.

• Sleep Medicine and Psychophysiology
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• v.12 no.2
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• pp.144-147
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• 2005

Objective: The authors would like to find the relationship between zolpidem and nocturnal eating episodes in diverse psychiatric patients. Method: We evaluated case series of 6 patients who showed nocturnal eating episodes after takine zolpidem. Results: We have experienced 6 cases who showed nocturnal eating behavior after taking zolpidem. They included 3 patients with schizoprenia, a patient with major depressive disorder, a patient with PTSD and a patient with bipolra I disorder. With reducing or discontiuation of zolpidem, their nocturanl eating resolved. Conclusion: This finding strongly suggests the relationship between zolpidem and the nocturnal eating episode. Physicians should be aware that zolpidem might induce nocturnal eating behaviors.

• Anxiety and mood
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• v.4 no.2
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• pp.157-159
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• 2008

Continuous positive airway pressure (CPAP) has been known as a safe and effective therapy for the patients with obstructive sleep apnea (OSA). Previous studies on CPAP treatment have often reported significant improvement in mood state in those patients. However, there are very few reports on its potential to induce manic or hypomanic episode in the patients with OSA. We report a case of 34-year-old patient with OSA who developed manic and hypomanic episodes consecutively after CPAP treatment with facial mask. We suggest that CPAP treatment could induce a manic or hypomanic episode in patients with obstructive sleep apnea.

• Journal of Korean Neurosurgical Society
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• v.54 no.1
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• pp.38-41
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• 2013

Objective : Density of the chronic subdural hematoma (cSDH) is variable. It often appears to be mixed density. Multiple densities of cSDH may result from multiple episodes of trauma. We investigated the frequency of mixed density and the causes of head injuries representing each density. Methods : We could collect 242 cases of chronic SDH. The cSDHs were classified into four groups; hypodensity, homogeneous isodensity, layered type, and mixed type on the basis of CT scans. Results : The density of cSDH was isodense in 115 patients, hypodense in 31 patients, mixed in 79 cases, and layered in 17 cases. The cSDH was on the left side in 115 patients, on the right side in 70 patients, and bilateral in 40 patients. The history of trauma was identifiable in 122 patients. The etiology could be identified in 67.7% of the hypodense hematomas, while it was obscure in 59.5% of the mixed hematomas. Conclusion : Mixed density of cSDH results from multiple episodes of trauma, usually in the aged. It is hard to remember all the trivial traumas for the patients with the mixed density cSDHs. Although there were membranes within the mixed density hematomas, burr-holes were usually enough to drain the hematomas.

• Clinical and Experimental Pediatrics
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• v.50 no.4
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• pp.386-389
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• 2007

Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at a time. At the time of admission, no abnormal physical or neurological findings were observed and laboratory findings, including brain MRI and endoscopic examination, revealed nothing specific. The vomiting episodes were self-limited but recurrent and severely interrupted his daily life. When this patient was treated with topiramate, he showed a marked increase of symptom-free periods.

• Clinical and Experimental Pediatrics
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• v.51 no.12
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• pp.1359-1362
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• 2008

The most effective treatment strategy for patients with hemophilia is replacement therapy with FVIII or FIX concentrates, which usually requires long-term, uncomplicated venous access. However, central venous access device (CVADs, ports) insertion requires inpatient admission and general anesthesia, and presents some problems regarding health insurance coverage. Peripherally inserted central catheters (PICCs) were inserted in two severe hemophilia patients aged 7 and 11 years with high titers of inhibitors. They experienced frequent bleeding episodes and required replacement therapy, which eventually resulted in difficulty in acquiring venous line access. Factor VIII activity was below 1%, and inhibitor titers were 160 and 26.3 BU/ml. In an outpatient setting, PICC lines are easily placed by radiological guidance and require local anesthesia alone. PICC has been feasible, in particular, for hemophilia patients with frequent bleeding episodes.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.6
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• pp.511-520
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• 2020

Purpose: Thickened infant formulas reduce regurgitation frequency and volume. Because the digestive tolerance of locust bean gum-containing formulas is controversial, the effectiveness and tolerance of a locust bean gum-thickened formula in infants presenting with regurgitation was evaluated. No other interventions were allowed during the 1 month follow-up period. Methods: We conducted an open, prospective, observational study of a locust bean gum-thickened formula administered to infants presenting with moderate to severe regurgitation according to parents during 1 month. Effectiveness and tolerance were assessed by evaluating gastrointestinal symptoms and quality of life indicators. Results: A total of 2,604 infants with an average age of 9.3±4.3 weeks were included in this 1 month trial. Regurgitation frequency and estimated volume decreased significantly (p<0.001) and the episodes were resolved completely in 48% of the infants. A significant decrease in duration of crying and episodes of gas (p<0.001), with improvement in quality of life parameters, was observed. Stool frequency increased and stool consistency softened (p<0.001) to levels within the physiologic range, consistent with the increased fiber load (0.42 g/100 mL). Conclusion: Locust bean gum-thickened formula decreased infant regurgitation, was well tolerated, and improved parental quality of life. Stool composition and frequency of the infants remained within the physiologic range.