Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools [0.03%]
磁共振成像及波谱分析在五个Pelizaeus-Merzbacher病的病例中的应用：代谢异常作为诊断工具
Eun Lee,Mi-Sun Yum,Hae-Won Choi et al.
Eun Lee et al.
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at X...
Yun Jung Hur,Taegyu Hwang
Yun Jung Hur
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is ...
LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls [0.03%]
LIN28B多态性与中枢性早熟及女孩青春期初潮过早的相关性研究
Sung Won Park,Seung-Tae Lee,Young Bae Sohn et al.
Sung Won Park et al.
Purpose: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with prec...
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy [0.03%]
新诊断的良性罗兰克癫痫儿童的认知和其他神经心理特征档案
Soonhak Kwon,Hye-Eun Seo,Su Kyeong Hwang
Soonhak Kwon
Purpose: Although benign rolandic epilepsy (BRE) is a benign condition, it may be associated with a spectrum of behavioral, psychiatric, and cognitive disorders. This study aimed to assess the cognitive and other neuropsy...
Clinical features and surgical outcomes of complete transposition of the great arteries [0.03%]
大动脉完全转位的临床特点和手术预后分析
Suk Jin Hong,Hee Joung Choi,Yeo Hyang Kim et al.
Suk Jin Hong et al.
Purpose: This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA). ...
Tae-Sun Ha,Ji-Young Choi,Hye-Young Park
Tae-Sun Ha
Purpose: Puromycin aminonucleoside (PAN) specifically injures podocytes, leading to foot process effacement, actin cytoskeleton disorganization, and abnormal distribution of slit diaphragm proteins. p130Cas is a docking p...
Young Seo Park
Young Seo Park
Urinary tract infection (UTI) is a common bacterial illness in children. Acute pyelonephritis in children may lead to renal scarring with the risk of later hypertension, preeclampsia during pregnancy, proteinuria, and renal insufficiency. U...
Enterovirus infection in Korean children and anti-enteroviral potential candidate agents [0.03%]
柯式病毒的感染及潜在抗 Enterovirus 药物之探讨
Kwi Sung Park,Young Jin Choi,Joon Soo Park
Kwi Sung Park
Although most enterovirus infections are not serious enough to be life threatening, several enteroviruses such as enterovirus 71 are responsible for severe, potentially life-threatening disease. The epidemic patterns of enteroviruses occur ...
Neuro-Behçet disease presented diplopia with hemiparesis following minor head trauma [0.03%]
轻微头部外伤后出现复视和半身不遂的神经贝赫切特病一例
Ja Yun Choi,Sun Young Park,In Ok Hwang et al.
Ja Yun Choi et al.
Behçet disease (BD) is rare in childhood. We report a 9-year-old boy with neuro-Behçet disease who presented diplopia and weakness on the left side after a cerebral concussion. Brain magnetic resonance imaging (MRI) revealed hyperintensit...
A case of Becker muscular dystrophy with early manifestation of cardiomyopathy [0.03%]
贝克尔型肌营养不良合并早发性心肌病一例
Ki Hyun Doo,Hye Won Ryu,Seung Soo Kim et al.
Ki Hyun Doo et al.
An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) ...