• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권3호
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• pp.286-296
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• 2020

Purpose: Inflammatory bowel disease (IBD) in children and adolescents is associated with high morbidity and possibly has a significant negative impact on their quality of life. This study aimed to evaluate the quality of life of children and adolescents with IBD and define the variables that impact these individuals. Methods: We administered the Pediatric Quality of Life Questionnaire (PedsQL) to 35 children and adolescents diagnosed with IBD and with available quantitative data from clinical records on epidemiology, clinical evolution, complementary tests, medical interventions, and disease activity. Data were evaluated according to the IBD type and compared with a control group of healthy children. Results: The study group showed a significantly lower PedsQL score than the control group (p<0.01). Significant factors contributing to poor overall quality of life included female sex, Crohn's disease, surgery, and food restrictions. Symptoms such as diarrhea and the fear of using public toilets were associated with low physical scores. Feeling sick had a negative impact on the emotional PedsQL scores. Patients with a fear of using public toilets, anthropometric scores below the 3rd percentile, and greater disease activity scored lower in the social domain. Regarding school and psychosocial evaluations, younger children with symptom onset after the age of 2 years had lower scores than younger children with symptom onset before the age of 2 years. Conclusion: IBD negatively affects the quality of life of children and adolescents based on its impact on the physical, emotional, social, and psychosocial statuses of these patients.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권3호
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• pp.178-185
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• 2017

Purpose: To evaluate the outcomes of a hybrid prophylactic strategy to prevent cytomegalovirus (CMV) disease in pediatric liver transplantation (LT) patients. Methods: CMV DNAemia was regularly monitored by quantitative nucleic acid amplification test (QNAT) and was quantified in all children. CMV infection and disease were defined according to the International Consensus Guidelines. The hybrid strategy against CMV infection consisted of universal 3-week prophylaxis and preemptive treatment of intravenous ganciclovir regardless of the recipient's serostatus. Results: A total of 143 children who underwent living donor LT were managed using the hybrid strategy. The overall incidence of CMV infection by QNAT was 48.3% (n=69/143). The highest CMV DNAemia positivity was observed in 49.2% (n=60/122) of children in the D+/R+ group, followed by 46.7% (n=7/15) in the D+/R- group. CMV disease was noted in 26.1% (n=18/69) patients. Forty-three (62.3%) children had undergone preemptive therapy consisting of intravenous ganciclovir. No symptomatic patients developed tissue-invasive disease, resulting in no CMV-associated mortality. Conclusion: The incidence of CMV infection was high in pediatric LT patients despite the hybrid strategy. However, tissue-invasive disease in pediatric LT did not occur.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권4호
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• pp.229-235
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• 2016

Purpose: To study whether breastfeeding and breastfeeding status during gluten introduction influences the age at diagnosis of celiac disease (CD). In addition to study, whether the timing of gluten introduction influences the age at diagnosis of CD. Methods: It was a hospital based observational study. Total 198 patients diagnosed with CD as per modified European Society of Pediatric Gastroenterology, Hepatology and Nutrition (2012) criteria, aged between 6 months to 6 years were included. Detail history taken with special emphasis on breastfeeding and age of gluten introduction. Standard statistical methods used to analyze the data. Results: $Mean{\pm}standard$ deviation age of onset and diagnosis of CD in breastfed cases was $2.81{\pm}1.42$ years and $3.68{\pm}1.55$ years respectively as compared to $1.84{\pm}1.36$ years and $2.70{\pm}1.65$ years respectively in not breastfed cases (p<0.05). Those who had continued breastfeeding during gluten introduction and of longer duration had significantly delayed onset of disease. The age at onset of CD was under one year in 40.42% of the cases, who had started gluten before 6 months of age compared to only 12.58% of those who had started gluten later (p<0.001). The proposed statistical model showed that two variables, i.e., breast feeding status during gluten introduction and age at gluten introduction positively influencing the age at diagnosis of CD. Conclusion: Delayed gluten introduction to infant's diet along with continuing breastfeeding, delays symptomatic CD. However, it is not clear from our study that these infant feeding practices provide permanent protection against the disease or merely delays the symptoms.

• 대한장애인치과학회지
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• 제13권1호
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• pp.47-51
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• 2017

Haddad 증후군은 Congenital central hypoventilation syndrome과 Hirschsprung's disease가 함께 나타나는 질환으로 수면 시 호흡 저하를 특징으로 하나, 증상이 심할 경우 깨어있을 때에도 호흡 저하가 나타날 수 있다. 따라서 전신 마취 시, 중추성 억제 약물 사용에 주의를 기울여야 하고, 적절한 환기가 이루어지도록 하는 것이 중요하다. 또한 술 후에도 호흡 저하가 일어나지 않도록 주의를 기울여야 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권6호
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• pp.501-510
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• 2019

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children. The global prevalence of pediatric NAFLD from general populations is 7.6%. In obese children, the prevalence is higher in Asia. NAFLD has a strong heritable component based on ethnic difference in the prevalence and clustering within families. Genetic polymorphisms of patatin-like phospholipase domain-containing protein 3 (PNPLA3), transmembrane 6 superfamily member 2, and glucokinase regulatory protein (GCKR) are associated with the risk of NAFLD in children. Variants of PNPLA3 and GCKR are more common in Asians. Alterations of the gut microbiome might contribute to the pathogenesis of NAFLD. High fructose intake increases the risk of NAFLD. Liver fibrosis is a poor prognostic factor for disease progression to cirrhosis. Magnetic resonance spectroscopy and magnetic resonance proton density fat fraction are more accurate for steatosis quantification than ultrasound. Noninvasive imaging methods to assess liver fibrosis, such as transient elastography, shear-wave elastography, and magnetic resonance elastography are useful in predicting advanced fibrosis, but they need further validation. Longitudinal follow-up studies into adulthood are needed to better understand the natural history of pediatric NAFLD.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.113-116
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• 2013

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.

• Advances in pediatric surgery
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• 제8권1호
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• pp.64-67
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• 2002

Since Swenson and Bill established the treatment principles of Hirshsprung's disease in 1948, there have been significant advances in the management of this disease. During the last decade, one-stage correction of Hirshsprung's disease without colostomy and primary laparoscopic pull-through procedure became popular with recent advances in the technology and refinement of the equipments. But the outcomes for Hirshsprung's disease are not always successful, and long-term follow-up isessential. Most children after corrective surgery show significant improvement in respect to fecal continence and constipation, that may not be apparent until late adolescence. The purpose of this study was to review the postoperative problems of Hirschsprung's disease and it's management.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제15권1호
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• pp.8-12
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• 2012

The examination of small bowel in Crohn's disease (CD) is very important. Capsule endoscopy (CE) has been recognized as a good tool for evaluation of small bowel. The capsule placement is achieved endoscopically for Children not to swallow capsule. CE is superior to any other modalities for examination of small-bowel. The large portion of pediatric patients with known CD were found with CE to have more extensive and newly diagnostic small-bowel disease. All of them had therapeutic changes. The most side effect of CE is capsule retention. The capsule retention rate in pediatric CD is about 7.3%. The patency capsule helps to predict the possibility of capsule retention. For the improving of the diagnostic accuracy, the experience of more than 20 readings of CE is needed.

• Advances in pediatric surgery
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• 제8권1호
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• pp.48-53
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• 2002

Diagnosing Hirschprungs disease (HD) is a clinical challenge to pediatric surgeons. The cardinal symptoms are failure of passage of meconium within first 24 hours of life, abdominal distension, and vomiting. The severity of these symptoms and the degree of consitpation vary considerably between patients. HD is suspected on the basis of history and clinical findings and the diagnosis is established by radiological examination, anorectal manometry, and histochemical analysis of biopsy specimens. In this review, the advantages and pitfalls of each diagnostic modality are discussed. And a diagnostic approach utilizing these diagnostic modalities in children with suspicious HD is presented.

• Journal of Korean Neurosurgical Society
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• 제66권6호
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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.