• Journal of Genetic Medicine
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• 제11권2호
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.84-87
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• 2016

Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit. The clinical symptoms are variable, and recognition in children with hypertension can aid early diagnosis and optimal treatment. Hypertension with MAS is malignant and often refractory to several antihypertensive drugs. Recently, radiologic modalities have been developed and have led to numerous interventional procedures. We describe the case of a 3-year-old boy presenting with left ventricular hypertrophy whose severely elevated blood pressure led to the diagnosis of idiopathic MAS. This case highlights the importance of measuring blood pressure and conducting a detailed physical examination to diagnose MAS. This is the first reported case of idiopathic MAS diagnosed in childhood in Korea.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제25권1호
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• pp.14-19
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• 2014

Objectives : This study was conducted in order to describe prescribing practices in treatment of pediatric bipolar disorder in a Korean inpatient sample. Methods : We performed a retrospective chart review of 66 youths who had been hospitalized and diagnosed with bipolar disorder according to the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria. Demographics, clinical characteristics, medications used, doses, and related adverse events were examined. Results : Mood stabilizers and/or atypical antipsychotic medications were the primary treatment. Risperidone, valproate, and lithium were the most commonly used. Thirty seven patients (58.1%) were treated with combination therapy of an atypical antipsychotic and mood stabilizer for improvement of manic/mixed symptoms. Conclusion : Combination pharmacotherapy was necessary for most patients in this admission sample group. Conduct of further studies will be needed for evaluation of treatment response according to the clinical characteristics, and the safety and efficacy of treatment for child and adolescent bipolar disorder.

• Journal of Korean Neurosurgical Society
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• 제62권2호
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• pp.225-231
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• 2019

Objective : Epidural haematoma (EDH) most commonly occurs in the supratentorial area, particularly in the temporal region, of the brain. Posterior fossa epidural haematoma (PFEDH) is less frequently observed, accounting for only 1.2% to 12.9% of all EDH cases. Because of the non-specific symptoms and the potential for rapid and fatal deterioration in children, an early computed tomography (CT) scanning is necessary for all suspicious cases. The aim of the present study was to share the experience of 48 cases and review the literature concerning PFEDH. Methods : A retrospective analysis was conducted for 48 paediatric cases diagnosed with PFEDH and admitted to Yuying Children's Hospital of Wenzhou Medical University from January 2010 to August 2015. The clinical features and outcomes were analyzed and compared with previous literature. Results : Seventeen patients were surgically treated in this series and 31 patients received non-operative treatment. The outcomes were good in 46 patients, evaluated using the Glasgow outcome score (GOS), while mild disability was observed in one patient, and only one case showed severe disability. There were no cases of mortality in this series. Conclusion : Posterior fossa epidural haematoma is relatively rare compared with supratentorial epidural haematoma. Early and serial CT scans should be performed for all suspicious cases. The criteria for the surgical treatment of paediatric patients with PFEDH were concluded. The overall prognosis was excellent in paediatric patients.

• Advances in pediatric surgery
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• 제16권1호
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• pp.18-24
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• 2010

Pancreaticoduodenectomy is the treatment of choice for adult periampullary lesions. However there has been no studies on the clinical outcomes of pancreaticoduodenectomy in children. To evaluate the clinical outcomes, records of 13 patients who underwent pancreaticoduodenectomy, from 1989 to 2009, at Seoul National University Children's Hospital were reviewed. Mean follow up period was 83 (2-204) months, the male to female ratio was 1:3.3, and the mean age was 11 (2-14) years. Ten patients underwent PPPD and 3 patients had Whipple's operation. The postoperative diagnosis included solid pseudopapillary tumor (9), cavernous hemangioma (1), pseudocyst (1), benign cyst (1), pancreatic disruption (1). Two patients developed postoperative adhesive ileus and among them one patient required operative intervention. Four patients required pancreatin supplementation due to steatorrhea and other gastrointestinal symptoms. There were no postoperative mortality during the follow up period and no evidence of recurrence in SPT patients. This study demonstrates that the pancreaticoduodenectomy procedure in children is not only feasible but also safe, with no mortality and an acceptable complication rate.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.138-142
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• 2020

Atypical hemolytic uremic syndrome (aHUS) is an extremely rare and life-threatening disorder. Typical HUS is often caused by Shiga toxin-positive Escherichia coli, while aHUS is caused by dysregulation of the alternative pathway of the complement system in association with genetic abnormalities or development of autoantibodies. Eculizumab, a humanized anti-complement 5 monoclonal antibody, is recommended for the treatment of aHUS, but its long-term safety and efficacy in pediatric patients remain under review. In this paper, we report a pediatric case of aHUS with anti-complement factor H autoantibodies, who was treated successfully with eculizumab.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권3호
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• pp.187-192
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• 2015

Purpose: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured through hepatitis screening in both adults and children. Herein, we evaluated the diagnostic value of ceruloplasmin for the diagnosis of WD among children with hepatitis. Methods: We retrospectively reviewed data on serum ceruloplasmin levels measured as a serologic marker for patients with hepatitis at Asan Medical Center (Seoul, Korea) between from January 2004 to November 2013. The diagnosis of WD was confirmed by the identification of pathogenic variants in the ATP7B gene. To determine the diagnostic accuracy of ceruloplasmin, receiver operation characteristic (ROC) curves were constructed and the area under curve (AUC) were calculated. Results: Measurements of serum ceruloplasmin were performed in 2,834 children who had hepatitis. Among these, 181 (6.4%) children were diagnosed with WD. The sensitivity, specificity, and accuracy of a ceruloplasmin level of <20 mg/dL in the discrimination of WD were 93.4%, 84.2%, and 84.8%, respectively. In this study, 418 (14.7%) false-positive cases and 12 (0.4%) false-negative cases were noted. Using a ROC curve, a ceruloplasmin level of ${\leq}16.6mg/dL$ showed the highest AUC value (0.956) with a sensitivity of 91.2%, a specificity of 94.9%, and an accuracy of 94.7%. Conclusion: The measurement of serum ceruloplasmin was frequently used for the screening of WD in children, despite a low positive rate. The diagnostic value of ceruloplasmin may be strengthened by adopting a new lower cut-off level.

• Journal of Microbiology and Biotechnology
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• 제26권5호
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• pp.918-927
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• 2016

Cryptococcus neoformans is a life-threatening pathogenic yeast that causes devastating meningoencephalitis. The mechanism of cryptococcal brain invasion is largely unknown, and recent studies suggest that its extracellular microvesicles may be involved in the invasion process. The 14-3-3 protein is abundant in the extracellular microvesicles of C. neoformans, and the 14-3-3-GFP fusion has been used as the microvesicle's marker. However, the physiological role of 14-3-3 has not been explored. In this report, we have found that C. neoformans contains a single 14-3-3 gene that apparently is an essential gene. To explore the functions of 14-3-3, we substituted the promoter region of the 14-3-3 with the copper-controllable promoter CTR4. The CTR4 regulatory strain showed an enlarged cell size, drastic changes in morphology, and a decrease in the thickness of the capsule under copper-enriched conditions. Furthermore, the mutant cells produced a lower amount of total proteins in their extracellular microvesicles and reduced adhesion to human brain microvascular endothelial cells in vitro. Proteomic analyses of the protein components under 14-3-3-overexpressed and -suppressed conditions revealed that the 14-3-3 function(s) might be associated with the microvesicle biogenesis. Our results support that 14-3-3 has diverse pertinent roles in both physiology and pathogenesis in C. neoformans. Its gene functions are closely relevant to the pathogenesis of this fungus.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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• pp.306-314
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• 2018

Purpose: The objective of this study was to describe the clinical phenotypes of children and adolescents with cystic fibrosis (CF); and to assess the role of pancreatic insufficiency and neonatal screening in diagnosis. Methods: A cross-sectional study was conducted, which included 77 patients attending a reference center of CF between 2014 and 2016. Epidemiological data, anthropometric measurements, and the presence of pulmonary, pancreatic, gastrointestinal and hepatobiliary manifestations were evaluated based on clinical data and complementary examinations. Results: Of the 77 patients, 51.9% were male, with a median age of 147 months (7.0-297.0 months), and the majority showed adequate nutritional status. The most common phenotype was pulmonary (92.2%), followed by pancreatic (87.0%), with pancreatic insufficiency in most cases. Gastrointestinal manifestation occurred in 46.8%, with constipation being the more common factor. Hepatobiliary disease occurred in 62.3% of patients. The group with pancreatic insufficiency was diagnosed earlier (5.0 months) when compared to the group with sufficiency (84.0 months) (p=0.01). The age of diagnosis was reduced following implementation of neonatal screening protocols for CF (6.0 months before vs. 3.0 months after, p=0.02). Conclusion: The pulmonary phenotype was the most common, although extrapulmonary manifestations were frequent and clinically relevant, and should mandate early detection and treatment. Neonatal screening for CF led to earlier diagnosis in patients with pancreatic failure, and therefore, should be adopted universally.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제21권3호
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• pp.168-173
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• 2010

Objectives: This study was conducted to compare emotional problems in children with neurosurgical diseases prior to surgery as well as levels of parenting stress experienced by mothers of children treated with surgery and those without surgery. The goals was to provide a basis on which comprehensive treatment interventions could be established. Methods: Subjects included 78 elementary school children who visited the Department of Pediatric Neurosurgery as well as their mothers. The Children's Depression Inventory (CDI) and the Revised Children Manifest Anxiety Scale (RCMAS) were administered to children. The Parenting Stress Indexs (PSI) and Beck Depression Inventory (BDI) were administered to their mothers. Results: The children with neurosurgical diseases showed higher levels of depression prior to surgery. In their mothers, parenting stress was relatively higher and parenting competence was lower. In particular, for those children who underwent surgery, depression was significantly higher. Specifically, they exhibited more negative expectations, and negative self-image. In mothers of children who underwent surgery, depression was significantly higher. Conclusion: Our results suggest higher levels of emotional distress and parental stress in children who undergo neurosurgical operations and their mothers, respectively. Based on this, the necessity for surgical and comprehensive psychological intervention is suggested.