• 대한유전성대사질환학회지
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• 제22권1호
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• pp.9-14
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• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Journal of Veterinary Science
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• 제23권2호
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• pp.28.1-28.18
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• 2022

Enteropathogenic Escherichia coli (EPEC) is a major cause of infantile diarrhea in developing countries. However, sporadic outbreaks caused by this microorganism in developed countries are frequently reported recently. As an important zoonotic pathogen, EPEC is being monitored annually in several countries. Hallmark of EPEC infection is formation of attaching and effacing (A/E) lesions on the small intestine. To establish A/E lesions during a gastrointestinal tract (GIT) infeciton, EPEC must thrive in diverse GIT environments. A variety of stress responses by EPEC have been reported. These responses play significant roles in helping E. coli pass through GIT environments and establishing E. coli infection. Stringent response is one of those responses. It is mediated by guanosine tetraphosphate. Interestingly, previous studies have demonstrated that stringent response is a universal virulence regulatory mechanism present in many bacterial pathogens including EPEC. However, biological signficance of a bacterial stringent response in both EPEC and its interaction with the host during a GIT infection is unclear. It needs to be elucidated to broaden our insight to EPEC pathogenesis. In this review, diverse responses, including stringent response, of EPEC during a GIT infection are discussed to provide a new insight into EPEC pathophysiology in the GIT.

• 이탈리아어문학
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• 제37호
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• pp.31-72
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• 2012

In questa tesi ho focalizzanto sui due romanzi di Elsa Morante: Menzogna e Sortilegio e L'isola di Arturo, riferendo i fenomeni generali delle narratrici italiane. Le scrittrici si sono limitate a scegliere i temi e i sentimenti dei personaggi nell' ambiente sociale in cui si prevalgono i valori della famiglia patriarcale. Quasi tutti i personaggi dei romanzi di Morante sono figurati dall'esperienza propria della sua vita. Specialmente la protagonista della Menzogna e sortilegio, Elisa si identifica della Morante. La fantasia di Elisa ci esprime il sogno non realizzato dei suoi genitori. Arturo è preso dal velo fantastico di Maia, vivendo felicemente nell'isola di Procida. Questo mondo illusorio è quello psicologico creato dall'autrice e fa raggiunre alla vita totale dei suoi abitanti. In questi due romanzi ho messo in rilievo il mondo immaginario e letterario di Elsa Morante: nel primo romanzo, quello creato e ricordato da Elisa, nel secondo, quello infantile ricordato dalle memorie di Arturo. In questo mondo irrazionale i nostri personaggi possono trovare riposo dimenticando il dolore reale e ottenendo la totalità esistenziale, di cui parla Georg Luckás nel La teoria del romanzo.

• 동서간호학연구지
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• 제29권2호
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• pp.117-128
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• 2023

Purpose: This study aims to develop a structural model for predicting motherhood in women with her first infant child and to contribute to the development of practical and specific nursing interventions to promote successful motherhood. Methods: The subjects of the study were 211 mothers and fathers who had their first child within 12 months and consented to the study. Data collected from June 2, 2022 to January 31, 2023 were analyzed using SPSS 28.0 and AMOS 26.0 programs. Results: The results of this analysis showed that maternal and paternal factors (postpartum depression and paternal attachment) and infantile factor (temperament) influenced the process of becoming a mother for a women with her first child, with postpartum depression being the most influential factor. Conclusion: In order to increase the level of motherhood, it is important to prevent postpartum depression and create a nurturing environment for mothers, and social system support and psychological nursing intervention strategies are necessary.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제27권2호
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• pp.88-94
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• 2024

Purpose: Infantile hypertrophic pyloric stenosis (IHPS) is a common gastrointestinal disease in neonates and hypochloremia metabolic alkalosis is a typical laboratory finding in affected patients. This study aimed to analyze the clinical characteristics of infants with IHPS and evaluate the association of clinical and laboratory parameters with ultrasonographic findings. Methods: Infants diagnosed with IHPS between January 2017 and July 2022 were retrospectively evaluated. Results: A total of 67 patients were included in the study. The mean age at diagnosis was 40.5±19.59 days, and the mean symptom duration was 11.97±9.91 days. The mean pyloric muscle thickness and pyloric canal length were 4.87±1.05 mm and 19.6±3.46 mm, respectively. Hyponatremia and metabolic alkalosis were observed in five (7.5%) and 36 (53.7%) patients, respectively. Serum sodium (p=0.011), potassium (p=0.023), and chloride levels (p=0.015) were significantly lower in patients with high bicarbonate levels (≥30 mmol/L). Furthermore, pyloric canal length was significantly higher in patients with high bicarbonate levels (p=0.015). To assess metabolic alkalosis in IHPS patients, the area under the receiver operating characteristic curve of pyloric canal length was 0.910 and the optimal cutoff value of the pyloric canal length was 23.5 mm. Conclusion: We found a close association between laboratory and ultrasonographic findings of IHPS. Clinicians should give special consideration to patients with pyloric lengths exceeding 23.5 mm and appropriate fluid rehydration should be given to these patients.

• 보건의료산업학회지
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• 제8권3호
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• pp.137-145
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• 2014

The objective of this study was to analyze the risk of preterm birth (PTB) and low birth weight (LBW) in extramarital birth by analyzing 2008-2012 birth certificated data (2,328,719 births) from Korea Statistics. Odds ratio and 95% confidence intervals (95% CI) were calculated from logistic regression analyses to describe the associations between PTB & LBW and extramarital birth adjusted for maternal age, maternal occupation & education, infantile sex, birth order and number of child birth (singleton & multiple birth). The rate of extramarital birth was 1.8 percent and 2.1 percent in 2010-11. The incidence of LBW was 8.1 percent in extramarital birth and 5.0 percent in marital birth. The incidence of PTB in extramarital birth were 8.2 percent and 5.8 percent in marital birth. Compared with marital birth, the odds ratio (OR) for PTB were 1.48 (95% CI: 1.43-1.54) for extramarital birth. Risk of LBW was higher in extramarital birth (OR: 1.70, 95% CI: 1.64-1.76) than that of marital birth. Among mothers younger than 20 years, the odds ratio of PTB among extramarital birth, relative to married birth was 1.69 (1.49-1.91). Among unmarried mothers, those at a higher risk of LBW was aged 20-29 years (1.69: 1.59-1.79). Maternal unmarried status was associated with increased risk of PTB and LBW.

• Clinical and Experimental Pediatrics
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• 제50권11호
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• pp.1129-1133
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• 2007

골화석증은 뼈파괴세포의 기능의 이상과 백혈구의 과산화물 생성 이상을 특징으로 하는 드문 골경화성 질환으로, 유전방법이나 발병나이, 증상, 증상의 정도 등에 따라 몇 가지 아형으로 분류된다. 악성형 골화석증의 궁극적 치료 방법은 조혈모세포이식이지만, 조직형 일치 공여자가 없는 경우나 비교적 양성인 만성형 골화석증에서는 스테로이드나 carcitriol, 인터페론 감마 등의 치료를 시도해 볼 수 있다. 특히 인터페론 감마 치료는 골흡수를 증가시키고, 조혈 기능과 백혈구 기능을 향상시킨다고 보고되고 있다. 본 저자들은 약 6년, 3년 동안 인터페론 감마 치료 후 각각 수혈, 골절과 같은 다른 합병증 없이 조절되고 있는 골화석증 2례에 대해 보고하는 바이다.

• 대한장애인치과학회지
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• 제10권1호
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• pp.26-30
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• 2014

프라더 윌리 증후군과 원인을 알 수 없는 심낭 삼출을 앓고 있는 3세 남환이 치아우식을 주소로 내원하여 임상 구강 검사 결과 다발성 우식증과 구강 전반에 걸친 치아 마모증이 관찰되었다. 약 10개월간 보존적인 수복치료와 구강 위생관리를 시도하였으나, 치아 우식의 빠른 진행과 환아의 협조도 부족으로 전신마취 하 우식 치료를 시행하였다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.