• Clinical and Experimental Pediatrics
• /
• 제59권sup1호
• /
• pp.29-31
• /
• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• 대한유전성대사질환학회지
• /
• 제6권1호
• /
• pp.32-39
• /
• 2006

저자들은 출생 후 정상적인 발달을 보이다가 생후 6개월부터 의식과 운동 발달의 퇴행을 보이던 13개월 환아에서 효소 검사를 시행하여 ${\beta}$-galactosidase의 결핍을 확인하고 $GM_1$-gangliosidosis type 1으로 진단하였지만, 후에 추가적으로 시행한 효소 검사에서 ${\alpha}$-neuraminidase의 결핍도 발견되어 galactosialidosis로 진단한 증례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다.

• Advances in pediatric surgery
• /
• 제8권1호
• /
• pp.33-38
• /
• 2002

The purpose of this study is to evaluate the applicability of intravenous atropine sulfate therapy in infantile hypertrophic pyloric stenosis (IHPS). From 1998 to 2000 among 35 cases of IHPS, pyloromytomy was performed in 13 (Group A), and intravenous atropine was given as a primary therapy in 22 cases (Group B). In group A, all cases were cured completely. In group B, 13 (59 %) out of 22 cases were successfully treated with atropine, but 9 were failed therapy, and required operation. The recovery period to normal feeding and the hospital stay of the successful atropine group were longer than those of pyloromyotomy, 8.6 days vs. 2.9 days and 13.2 days vs. 4.1 days, respectively. In conclusion, intravenous atropine therapy did not replace pyloromyotomy, but it might be an alternative for the selected patients with contraindications for operation.

• Advances in pediatric surgery
• /
• 제8권1호
• /
• pp.23-27
• /
• 2002

Infantile hypertrophic pyloric stenosis (IHPS) a common childhood disorders characterized by nonbilious projectile vomiting, an olive shaped mass in the right upper quadrant of the abdomen and visible gastric peristaltic wave in the upper abdomen. Its etiology and pathogenesis are not clear but abnormal nerve distribution of the pylorus has been $postulated^{2-6}$. We performed immunocytochemical staning to the pyloric muscle from 10 IHPS and 3 controls patients, utilizing specific monoclonal antibody to NCAM(neural cell adhesion molecule). In IHPS patients, the number of NCAM protein immunoreactive nerve fibers were less than that in normal subjects. Auerbach myenteric plexuse was well developed and interbundle nerve plexuse was present but nerve fibers supplying individual muscle cells in smooth muscle bundles were poorly developed. These results indicate reduction of innervation in smooth muscles in IHPS patients that possibly contributes to the pathogenesis of IHPS.

• Clinical and Experimental Pediatrics
• /
• 제61권5호
• /
• pp.150-155
• /
• 2018

Purpose: Infantile spasms, also known as West syndrome, is an age-specific epileptic seizure. Most patients with this condition also exhibit delayed development. This study aimed to determine the effect of long-term prenatal stress on susceptibility to infantile spasms. Methods: We subjected pregnant rats to acute or chronic immobilization stress. Resulting offspring received N-methyl-D-aspartic acid (15 mg/kg, intraperitoneally) on postnatal day 15, and their behaviors were observed 75 minutes after injection. The expression of KCC2 and GAD67 was also determined using immunohistochemistry. Results: Exposure to long-term prenatal stress increased the frequency of spasms and decreased the latency to onset of spasms compared with offspring exposed to short-term prenatal stress. Expression of KCC2 and GAD67 also decreased in the group exposed to long-term prenatal stress compared with the group exposed to short-term prenatal stress. Conclusion: Our study suggests that exposure to long-term prenatal stress results in increased susceptibility to seizures.

• Journal of Genetic Medicine
• /
• 제16권1호
• /
• pp.19-22
• /
• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

• BMB Reports
• /
• 제52권5호
• /
• pp.304-311
• /
• 2019

The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.

• Clinical and Experimental Pediatrics
• /
• 제52권7호
• /
• pp.804-810
• /
• 2009

목 적 : 영아연축은 이차성 전신간질중의 하나로 간질 병소를 발견하기 힘든 질환중의 하나이다. 이에 저자들은 $^{99m}Tc-ECD$ 추적자의 느린 점적 주사를 이용한 발작기 SPECT를 통하여 영아 연축 환아에서 간질 병소를 찾아보고자 하였다. 방 법 : 2005년 3월부터 2007년 2월까지 연세대학교 의과대학 소아과에 내원한 영아 연축 14명의 환아를 대상으로 첫 연축이 발생하는 시점에 $^{99m}Tc-ECD$ 를 2분에 걸쳐 천천히 같은 속도로 주입하였다. 발작간기와 발작기 간의 SPECT 의 차이를 비교하였으며 객관적인 비교를 위하여 SISCOM기법을 사용하였다. 또한 간질 병소를 발견할 수 있는 진단기법인 뇌파, 자기공명영상, 양전자단층촬영(PET) 등과 비교 분석하였다. 결 과 : 전체 14례의 추적자의 느린 점적 주사를 이용한 발작기 SPECT 중 10례에서 간질 병소의 혈류가 증가하였다. 비디오 뇌파와 발작기 SPECT에서 간질병소의 일치율은 Kappa=0.57, 95% confidence interval: 0.18-0.96로 높게 나왔다. 이 중 6례에서 발작기 SPECT와 비디오 뇌파에 근거하여 간질 수술을 시행하였으며 수술적 예후가 Engle class I으로 좋은 결과를 보였다. 결 론 : 추적자의 느린 점적 주사를 이용한 발작기 SPECT는 간질 병소를 찾기 어려운 영아 연축 환아에서 간질 병소를 찾아내는데 중요한 역할을 하는 것을 알 수 있었다. 그러나 보다 큰 규모의 전향적인 연구가 필요할 것으로 사료된다.

• 유통과학연구
• /
• 제9권3호
• /
• pp.55-64
• /
• 2011

본 연구는 소아비만 치료제 시장에 있어 중요한 마케팅 대상그룹인 구매 타켓, 주부들을 대상으로 한 설문조사를 통해 소아비만 시장에서의 구매의사 결정요인과 유통경로 결정요인 등을 분석해 효과적인 브랜딩 전략을 수립하기 위한 것이다. 최근 비만이 사회적으로 큰 문제로 떠오르고 있고 몇 몇 연구들을 통해 우리나라의 외식문화로부터 사회적 비만문제의 원인을 찾는 경우가 있어 외식프랜차이즈 산업에 있어서도 비만 문제는 관심 있게 바라보고 대처해야 할 관심사라 할 수 있다. 특히 소아비만의 경우 소아비만 환자의 80~85%가 성인비만으로 이어져 평생 비만과 씨름하면서 살아야 하는 심각한 문제를 야기 한다. 따라서 이러한 소아비만 문제는 부모들의 소비행동에 적잖은 영향을 미치고 있다. 이에 본 연구에서는 소아비만 시장의 구매의사 결정요인과 유통경로 결정요인 등을 살펴보고 이를 바탕으로 한 효과적인 브랜딩 전략과 브랜드 마케팅 커뮤니케이션 전략수립 방안을 제시하여 소아비만 치료제 시장 활성화에 기여하고 나아가 소아비만 문제해결에 일조하기 위함이다.

• 대한간호
• /
• 제5권1호통권21호
• /
• pp.32-37
• /
• 1966