• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.642-651
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• 2023

Objective : Endothelial colony-forming cells (ECFCs) have been reported to play an important role in the pathogenesis of moyamoya disease (MMD). We have previously observed stagnant growth in MMD ECFCs with functional impairment of tubule formation. We aimed to verify the key regulators and related signaling pathways involved in the functional defects of MMD ECFCs. Methods : ECFCs were cultured from peripheral blood mononuclear cells of healthy volunteers (normal) and MMD patients. Low-density lipoproteins uptake, flow cytometry, high content screening, senescence-associated β-galactosidase, immunofluorescence, cell cycle, tubule formation, microarray, real-time quantitative polymerase chain reaction, small interfering RNA transfection, and western blot analyses were performed. Results : The acquisition of cells that can be cultured for a long time with the characteristics of late ECFCs was significantly lower in the MMD patients than the normal. Importantly, the MMD ECFCs showed decreased cellular proliferation with G1 cell cycle arrest and cellular senescence compared to the normal ECFCs. A pathway enrichment analysis demonstrated that the cell cycle pathway was the major enriched pathway, which is consistent with the results of the functional analysis of ECFCs. Among the genes associated with the cell cycle, cyclin-dependent kinase inhibitor 2A (CDKN2A) showed the highest expression in MMD ECFCs. Knockdown of CDKN2A in MMD ECFCs enhanced proliferation by reducing G1 cell cycle arrest and inhibiting senescence through the regulation of CDK4 and phospho retinoblastoma protein. Conclusion : Our study suggests that CDKN2A plays an important role in the growth retardation of MMD ECFCs by inducing cell cycle arrest and senescence.

• Pediatric Infection and Vaccine
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• v.27 no.2
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• pp.111-116
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• 2020

Purpose: Human parvovirus B19 infection is widespread and has a heterogeneous clinical spectrum, ranging from asymptomatic infection to potentially life-threatening complications. We investigated the various clinical features of human parvovirus B19 infection during an outbreak of the virus in our community. Methods: A retrospective chart review study was conducted at the Pusan National University Children's Hospital from December 2017 to April 2019. We investigated the clinical features of children with parvovirus B19 immunoglobulin M or parvovirus B19 DNA detected using polymerase chain reaction. Results: A total of 24 children were diagnosed with parvovirus B19 infection. Twelve (50%) had lace form rashes, and four (16.7%) had petechial rashes. Two (8.3%) were diagnosed with fever without a focus. Six (25%) developed aplastic crisis as a complication of infection, of whom three were previously diagnosed with hereditary spherocytosis and three with acute lymphoblastic leukemia. Conclusions: In addition to erythema infectiosum, the parvovirus B19 infection can present clinically with various types of rashes and fever without a focus. Furthermore, hematologic manifestations such as neutropenia and aplastic crisis can occur during infection.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.26 no.3
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• pp.209-216
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• 2015

Objectives : The purpose of this study was to investigate the effectiveness of a day-hospital treatment program designed to help development of children with pervasive developmental disorder (PDD) and mental retardation (MR). Methods : Retrospective review of the charts of 32 children (28 with PDD, 4 with MR), who participated in a day-hospital treatment program of Seoul Metropolitan Eunpyeong Hospital, from October 2008 to February 2012, was conducted. Development level of each patient was evaluated according to the Psycho-Educational Profile-Revised (PEP-R), Social Maturity Scale (SMS), and Childhood Autism Rating Scale (CARS). Evaluation was done at two points, before participation and after 1 year participation. Results : Children who participated in the day-hospital treatment program showed significant improvement in all categories of PEP-R, SMS, and CARS. Conclusion : Day-hospital treatment program is effective for helping development of children with PDD and MR.

• Clinical and Experimental Pediatrics
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• v.57 no.11
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• pp.500-504
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• 2014

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported to occasionally occur in unusual sites such as the thymus, tonsils, larynx, paranasal sinuses, deltoid muscle, spleen, uterine cervix, thoracic spine, and even the breast. Multifocal KHE is an extremely rare entity with few reports available in the literature, none of which describes pulmonary involvement. Herein, we report a unique case of multifocal KHE in a 13-year-old boy presenting with a huge soft tissue mass in the upper extremity complicated by bilateral pulmonary nodules that developed into large, necrotic tumor masses.

• Childhood Kidney Diseases
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• v.24 no.2
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Clinical and Experimental Pediatrics
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• v.62 no.3
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• pp.108-112
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• 2019

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal central nervous system disorder resulting from persistent measles virus infection. Long-term data are scarce, with a maximum follow-up period of 10 years. Interferon-alpha ($IFN-{\alpha}$) is a protein that exerts its antiviral activity via enhancement of cellular immune response and is reported to be an effective drug for the treatment of SSPE. However, there is currently no consensus regarding the optimal duration of $IFN-{\alpha}$ therapy. Here, we present a case report of a patient with SSPE treated with long-term intraventricular $IFN-{\alpha}$ therapy, which facilitated clinical improvement and neurological stabilization without causing serious adverse effects. To the best of our knowledge, this is one of the longest follow-up studies investigating a patient with SSPE receiving intraventricular $IFN-{\alpha}$ treatment. Further studies are necessary to validate the benefits and safety of long-term intraventricular $IFN-{\alpha}$ treatment in patients with SSPE.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.130-135
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• 2024

The effectiveness of corticosteroids in preventing immune reconstitution inflammatory syndrome in non-human immunodeficiency viruses Pneumocystis carinii pneumonia (PCP) patients, such as severe combined immunodeficiency (SCID) patients, is controversial. We experienced a paradoxical reaction during severe PCP treatment in a SCID infant, which responded well to adjuvant corticosteroids.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.221-226
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• 2008

Paroxysmal nocturnal hemoglobinuria(PNH) is an acquired hematologic disorder characterized by intravascular hemolysis, nocturnal hemoglobinuria, thrombotic events and bone marrow failure. It rarely occurs in children and can be complicated by acute renal failure(ARF). Here, we present two cases of ARF complicating PNH which has not been reported yet in Korean children. We suggest that PNH should be considered in differential diagnosis of ARF in children associated with intravascular hemolysis.

• Physical Therapy Korea
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• v.12 no.3
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• pp.31-38
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• 2005

The purpose of this study was to investigate the characteristics of cognitive development and motor development in children with developmental delays. Subjects were 43 children with a mean corrected age of 19.19 month (SD=7.48). The Gross Motor Function Measure (GMFM) and the Bayley Scale of Infant Development-second edition (BSID-II) were administered to the total children. Statistical analysis was done by paired t-test and Pearson correlation, using SPSS software. The results were as follows: 1) Most of the children with developmental delays showed statistical delays on the mental scale rather than on the motor scale. 2) The correlation coefficients of cognitive performance and motor performance were ranged between r=.38 and r=.83 in children with developmental delays. 3) Lower motor performance showed significant association with lower cognitive score. The findings suggest that cognitive and motor performance in children with developmental delays was significantly correlated.

• Archives of Plastic Surgery
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• v.43 no.6
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• pp.582-585
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• 2016

It is uncommon for a palatal fistula to be detected in individuals who have not undergone surgery, and only sporadic cases have been reported. It is even more difficult to find cases of acquired palatal fistula in patients with submucous or incomplete cleft palate. Herein, we present 2 rare cases of this phenomenon. Case 1 was a patient with submucous cleft palate who acquired a palatal fistula after suffering from oral candidiasis at the age of 5 months. Case 2 was a patient with incomplete cleft palate who spontaneously, without trauma or infection, presented with a palatal fistula at the age of 9 months.