• Journal of Korean Neurosurgical Society
• /
• 제66권6호
• /
• pp.642-651
• /
• 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
• /
• 제27권2호
• /
• pp.111-116
• /
• 2020

목적: 인간 파르보바이러스 B19 감염은 무증상에서 생명을 위협하는 합병증에 이르기까지 광범위하고 다양한 증상을 나타낸다. 우리는 파르보바이러스 B19 감염의 지역사회 내 집단발생 시기 동안, 파르보바이러스 B19 감염의 다양한 임상 양상에 대해 조사하였다. 방법: 2017년 12월부터 2019년 4월까지 부산대학교 어린이병원에서 파르보바이러스 B19 면역 글로불린 M (IgM) 또는 중합효소 연쇄 반응(polymerase chain reaction, PCR)에 의해 검출된 파르보바이러스 B19 DNA를 가진 소아의 임상적 특징을 후향적 차트 분석을 통해 알아보았다. 결과: 24명의 어린이가 파르보바이러스 B19 감염으로 진단되었다. 24명의 환자 중 12명(50%)은 레이스 형태 발진이 있었고, 24명의 환자 중 4명(16.7%)은 점상출혈 발진, 24명의 환자 중 2명(8.3%)은 무병소 발열로 진단되었다. 24명 중 6명의 환자(25%)는 골수무형성위기가 발생하였고, 이 중 3명은 이전에 유전 구형적혈구증, 3명은 이전에 급성 림프모구 백혈병으로 진단되었던 환자이다. 결론: 감염홍반 외에도 파르보바이러스 B19 감염의 임상적 특징은 다양한 종류의 발진과 무병소 발열으로 나타날 수 있다. 또한, 혈액학적 증상으로 중성구 감소증, 골수무형성 위기와 같이 발생할 수 있다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• 제26권3호
• /
• pp.209-216
• /
• 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
• /
• 제57권11호
• /
• pp.500-504
• /
• 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
• /
• 제24권2호
• /
• pp.115-119
• /
• 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
• /
• 제62권3호
• /
• pp.108-112
• /
• 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
• /
• 제31권1호
• /
• pp.130-135
• /
• 2024

인체면역결핍바이러스 감염자의 페포자충폐렴 치료에 있어 보조적 스테로이드 치료의 효용성은 잘 알려진데 반해, 비인체면역결핍바이러스 면역저하자에서의 페포자충폐렴 치료에 있어서의 보조적 스테로이드 치료의 효용성은 논란의 여지가 있다. 본 연구자들은 비인체면역결핍바이러스 면역저하자인 중증복합면역결핍증 영아에서 이환된 중증페포자충폐렴를 치료하던 중 면역재구성염증증후군 유사현상을 관찰하였으며, 보조적 스테로이드 치료에 잘 반응하였기에 이를 보고하는 바이다.

• Childhood Kidney Diseases
• /
• 제12권2호
• /
• pp.221-226
• /
• 2008

PNH는 혈관내 용혈, 야간 혈색소뇨, 혈전증, 골수부전을 특징으로 하는 후천적 질환이며 소아에서는 매우 드물게 발생한다. 급성 신부전은 PNH의 합병증으로 알려져 있지만 우리나라 소아에서의 보고는 아직 없었다. 저자들은 소아에서 PNH로 인한 급성 신부전을 경험하였기에 이를 보고하며 용혈을 동반한 소아의 급성 신부전의 감별 진단에서 PNH가 포함되어야 한다고 생각한다.

• 한국전문물리치료학회지
• /
• 제12권3호
• /
• pp.31-38
• /
• 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
• /
• 제43권6호
• /
• pp.582-585
• /
• 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.