• 대한장애인치과학회지
• /
• 제4권1호
• /
• pp.12-16
• /
• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• Clinical and Experimental Pediatrics
• /
• 제59권6호
• /
• pp.276-279
• /
• 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.

• Journal of Chest Surgery
• /
• 제44권5호
• /
• pp.364-367
• /
• 2011

True aneurysm of the brachial artery is a rare disease entity. The mechanism of aneurysm formation is considered to be compression of the arterial wall, producing contusion of the media and subsequent weakness of the wall and fusiform dilatation. It can be caused by arteriosclerotic, congenital, and metabolic disorders, and can be associated with diseases such as Kawasaki's disease. Doppler ultrasonography, computed tomography, arteriography, and selective upper extremity angiography may be performed for establishing the diagnosis of aneurysm. The best therapeutic option is operative repair, and it should be performed without any delay, in order to prevent upper extremity ischemic or thrombotic sequelae. Here, we report a case of recurrent brachial artery aneurysm with review of the literature.

• Journal of Korean Neurosurgical Society
• /
• 제64권3호
• /
• pp.329-339
• /
• 2021

It has been recognised for over a century that the events of gastrulation are fundamental in determining, not only the development of the neuraxis but the organisation of the entire primitive embryo. Until recently our understanding of gastrulation was based on detailed histological analysis in animal models and relatively rare human tissue preparations from aborted fetuses. Such studies resulted in a model of gastrulation that neurosurgeons have subsequently used as a means of trying to explain some of the congenital anomalies of caudal spinal cord and vertebral development that present in paediatric neurosurgical practice. Recent advances in developmental biology, in particular cellular biology and molecular genetics have offered new insights into very early development. Understanding the processes that underlie cellular interactions, gene expression and activation/inhibition of signalling pathways has changed the way embryologists view gastrulation and this has led to a shift in emphasis from the 'descriptive and morphological' to the 'mechanistic and functional'. Unfortunately, thus far it has proved difficult to translate this improved knowledge of normal development, typically derived from non-human models, into an understanding of the mechanisms underlying human malformations such as the spinal dysraphisms and anomalies of caudal development. A paediatric neurosurgeons perspective of current concepts in gastrulation is presented along with a critical review of the current hypotheses of human malformations that have been attributed to disorders of this stage of embryogenesis.

• Journal of Genetic Medicine
• /
• 제17권2호
• /
• pp.102-107
• /
• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• International Journal of Stem Cells
• /
• 제16권4호
• /
• pp.385-393
• /
• 2023

In vertebrates, the entire central nervous system is derived from the neural tube, which is formed through a conserved early developmental morphogenetic process called neurulation. Although the perturbations in neurulation caused by genetic or environmental factors lead to neural tube defects (NTDs), the most common congenital malformation and the precise molecular pathological cascades mediating NTDs are not well understood. Recently, we have developed human spinal cord organoids (hSCOs) that recapitulate some aspects of human neurulation and observed that valproic acid (VPA) could cause neurulation defects in an organoid model. In this study, we identified and verified the significant changes in cell-cell junctional genes/proteins in VPA-treated organoids using transcriptomic and immunostaining analysis. Furthermore, VPA-treated mouse embryos exhibited impaired gene expression and NTD phenotypes, similar to those observed in the hSCO model. Collectively, our data demonstrate that hSCOs provide a valuable biological resource for dissecting the molecular pathways underlying the currently unknown human neurulation process using destructive biological analysis tools.

• Journal of Genetic Medicine
• /
• 제8권1호
• /
• pp.71-75
• /
• 2011

임신성 당뇨 및 조기양막파수를 보인 산모의, 다른 산전 병력 없이 과체중아로 태어난 생후 17일된 남아에서, 분만성 상완 신경총 손상, 선천성근성사경 및 구개열의 병발이 진단 되었다. 동시에 세 질환의 병발이 단순 병발일 수 있으나, 세 질환을 동시에 유발할 수 있는 병인에 의한 것일 수 있으므로, 증례의 분석을 통하여 어머니의 임신성 당뇨에 의하여 이 세 질환의 발생이 가능할 것으로 가정하였다. 모체의고혈당증은 주로 신경능선 조직에서 발생하는 태아구조에 영향을 주는 것으로 알려져 있고, 신경능선 조직에서 분화하는 조직들 중 하나인 구개골의 형성에 영향을 주어 구개열의 발생이 가능할 것으로 보이며, 임신성 당뇨에서 과체중아의 출생 빈도가 증가하므로, 이와 관련된 분만 손상 중 분만성 상완 신경총 손상 및 선천성근성사경의 발생이 가능할 것으로 판단된다. 따라서 임신성 당뇨가 있는 산모의 태아에서 구개열등의 선천성 기형의 위험성이 높으므로 산전 검사 시 유의해야하며, 과체중아에서 분만성 상완 신경총 손상과 선천성근성사경의 위험성이 높으므로 이에 대한 주의와 확인이 필요할 것으로 판단된다. 그러나, 분만성 상완 신경총 손상, 선천성근성사경 및 구개열의 병발이 산모의 임신성 당뇨와 연관된 합병증일 수 있다는 것을 증명하기 위하여 향후 더 많은 증례를 통한 심화된 연구가 필요하다.

• Advances in pediatric surgery
• /
• 제8권2호
• /
• pp.113-118
• /
• 2002

The etiology of several motility disorders, including persistent megacolon after definitive surgery for Hirschsprung's disease, meconium ileus which is not associated with cystic fibrosis and idiopathic megacolon, is still unclear. Interstitial cells of Cajal (ICC) are thought to modulate gut motility as gastrointestinal pace maker cells. The aim of this study was to evaluate the role of ICC in the bowel walls of the patients (n=15) who had variable motility disorders. The ICC were identified by immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. The ICC were immunohistochemical staining using an anti-C-Kit antibody and the results were compared with control specimens (n=2). The control group (G1) showed evenly distributed ICC in their bowel walls. The second group (G2, n=5) who had normal bowel movements after Duhamel procedures and the third group (G3, n=4) who had persistent megacolon after Duhamel procedures showed absent or scarcely distributed ICC in their aganglionic bowels. Whereas ICC were evenly distributed in the ganglionic bowels of G2, they were not seen or scarecely distributed in the ganglionic bowels of G3. Two patients (G4) who suffered from idiopathic megacolon showed absence or decrease of ICC in spite of presence of ganglion cells in their colons. Four neonates (G5) who underwent ileostomy because of meconium obstruction showed absent or markedly decreased ICC in the the colon at the time of ileostomy and the distribution of ICC was changed to a normal pattern at the time of ileostomy closure between 39-104 days of age and their bowel motility were restored after that. The results suggest that lack of ICC caused reduce motility in the ganglionic colons and it may be responsible for the development of various motility disorders. Delayed maturity of ICC may also playa role in the meconium obstruction of neinates.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제12권1호
• /
• pp.16-22
• /
• 2009

목 적: 경제 및 위생 상태의 개선, 의학 기술의 발달로 최근 질병양상은 변화를 보이고 있다. 이에 저자들은 의료의 질 관리가 이루어지고 있는 전국 수련 병원에서 영유아 및 소아 청소년 입원 환자를 대상으로 우리 나라 영유아 및 소아 청소년에서 간 담도 질환의 현황 연구를 수행하였다. 방 법: 연구는 전국 85개 수련 병원에서 2004년 1월 1일부터 2006년 12월 31일까지 입원했던 진료과에 관계없이 만 18세 이하를 대상으로 ICD-10 진단 체계를 사용한 대한소아과학회와 건강증진사업단에서 시행한 영유아 및 소아청소년 입원 질환의 중장기 변화 추세 조사 및 감시 체계 구축 방안을 위한 기초 연구에서 간담도 질환자를 분류해서 MS 액세스, MS 엑셀, STATA 10.0을 사용해 자료 분석을 하였다. 결 과: 간담도 질환을 앓았던 환자는 총 4,151명으로 전체 환자의 5.0%를 차지했다. 간담도 질환 중 간염 환자가 2,385명으로 전체 간담도 환자 중 57.4%를 차지 하면서 가장 많았으며, 그 다음으로 담도폐쇄증 및 총담관낭을 포함한 선천성 간담도 질환이 524명으로 12.6%를 차지하였다. 연령별로는 신생아기에는 선천질환이 많다가 학동기에는 A형 및 B형 간염의 비율이 증가하였다. 그리고 간 담도 수술은 청소년기, 영아기에 가장 많았다. 연도별 간담도 질환의 평균 재원일수는 통계적으로 유의한 차이는 없었으나 감소하는 추세를 보였고, 재원 환자수는 차이가 현저하지 않았다. 최근 유병률이 증가하고 있는 A형 간염의 경우 연중 6, 7, 8월에 가장 많았다. 결 론: 본 연구에서 저자들은 퇴원 기록을 바탕으로 영유아 및 소아청소년에서의 간담도 질환의 현황 및 입원 질병부담에 대해 기술하였다. 최근의 소아청소년 간담도 입원 질환 중에서 급성 A형 간염 비중의 급격한 증가는 보다 적극적인 예방 대책이 필요함을 시사한다. 소아청소년 간담도 질환의 경우 그 빈도가 많지 않아 단순 조사로는 역학 자료를 얻기 어려우므로 국가 주도의 체계적인 감시 시스템 구축이 필요하다.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제22권4호
• /
• pp.303-329
• /
• 2019

Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children. Severe IF requires parenteral nutrition (PN). Pediatric IF is most commonly due to congenital or neonatal intestinal diseases or malformations divided into 3 groups: 1) reduced intestinal length and consequently reduced absorptive surface, such as in short bowel syndrome (SBS) or extensive aganglionosis; 2) abnormal development of the intestinal mucosa such as congenital diseases of enterocyte development; 3) extensive motility dysfunction such as chronic intestinal pseudo-obstruction syndromes. The leading cause of IF in childhood is the SBS. In clinical practice the degree of IF may be indirectly measured by the level of PN required for normal or catch up growth. Other indicators such as serum citrulline have not proven to be highly reliable prognostic factors in children. The last decades have allowed the development of highly sophisticated nutrient solutions consisting of optimal combinations of macronutrients and micronutrients as well as guidelines, promoting PN as a safe and efficient feeding technique. However, IF that requires long-term PN may be associated with various complications including infections, growth failure, metabolic disorders, and bone disease. IF Associated Liver Disease may be a limiting factor. However, changes in the global management of IF pediatric patients, especially since the setup of intestinal rehabilitation centres did change the prognosis thus limiting "nutritional failure" which is considered as a major indication for intestinal transplantation (ITx) or combined liver-ITx.