• 생물정신의학
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• 제29권2호
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• pp.33-39
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• 2022

Objectives The early growth response 3 (EGR3) gene located in chromosome 8p21.3 is one of the susceptibility loci in many psychiatric disorders. EGR3 gene plays critical roles in signal transduction in the brain, which is involved in neuronal plasticity, neuronal development, learning, memory, and circadian rhythms. Recent studies have suggested EGR3 as a potential susceptibility gene for bipolar disorder (BPD). However, this requires further replication with an independent sample set. Methods To investigate the genetic role of EGR3 in Korean patients, we genotyped six single-nucleotide polymorphisms (SNPs) in the chromosome region of EGR3 in 1076 Korean BPD patients and 773 healthy control subjects. Results Among the six examined SNPs of EGR3 (rs17088531, rs1996147, rs3750192, rs35201266, rs7009708, rs1008949), SNP rs35201266, rs7009708, rs1008949 showed a significant association with BPD (p = 0.0041 for rs35201266 and BPD2, p = 0.0074 for rs1008949 and BPD, p = 0.0052 for rs1008949 and BPD1), which withstand multiple testing correction. In addition, the 'G-C-C-C' and 'G-C-G-C' haplotypes of EGR3 were overrepresented in the patients with BPD (p = 0.0055, < 0.0001, respectively) and the 'G-T-G-C' haplotype of EGR3 was underrepresented in patients with BPD (p = 0.0040). Conclusions In summary, our study supports the association of EGR3 with BPD in Korean population sample, and EGR3 could be suggested as a compelling susceptibility gene in BPD.

• Clinical and Experimental Pediatrics
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• 제50권8호
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• pp.711-717
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• 2007

Sleep is a vital, highly organized process regulated by complex systems of neuronal networks and neurotransmitters. Normal sleep comprises non-rapid eye movement (NREM) and REM periods that alternate through the night. Sleep usually begins in NREM and progresses through deeper NREM stages (2, 3, and 4 stages), but newborns enter REM sleep (active sleep) first before NREM (quiet sleep). A period of NREM and REM sleep cycle is approximately 90 minutes, but newborn have a shorter sleep cycle (50 minutes). As children mature, sleep changes as an adult pattern: shorter sleep duration, longer sleep cycles and less daytime sleep. REM sleep is approximately 50% of total sleep in newborn and dramatically decreases over the first 2 years into adulthood (20% to 25%). An initial predominant of slow wave sleep (stage 3 and 4) that peaks in early childhood, drops off abruptly after adolescence by 40% from preteen years, and then declines over the life span. The hypothalamus is recognized as a key area of brain involved in regulation of sleep and wakefulness. The basic function of sleep largely remains elusive, but it is clear that sleep plays an important role in the regulation of CNS and body physiologic processes. Understanding of the architecture of sleep and basic mechanisms that regulate sleep and wake cycle are essential to evaluate normal or abnormal development of sleep pattern changes with age. Reduction or disruption of sleep can have a significant impact on daytime functioning and development, including learning, growth, behavior, and emotional regulation.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제35권3호
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• pp.163-168
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• 2024

Stress is a natural state that emerges due to the dynamics of an individual's life. Children must learn how to effectively manage stress as part of their growth and development. Resolution is possible when children are exposed to stress and receive adequate support from their families. However, when stress is intense, frequent, protracted, or traumatic, as in cases of childhood abuse, it can become toxic and interfere with the development of the child's brain and body. This results in vulnerability, which can have detrimental effects on the child's overall physical, mental, and emotional health. This perspective discusses the impact of childhood maltreatment and toxic stress, drawing on insights gained during the COVID-19 pandemic. We aimed to shed light on the lessons learned from this unique and challenging period and how they inform our understanding of the effects of stress on children's well-being.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권2호
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• pp.171-180
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• 2019

Purpose: Malnutrition may influence neurocognitive development in children by directly affecting the brain structural development, or indirectly by affecting the children's cognition experience. Malnutrition alters the cell numbers, cell migration, synaptogenesis, and neurotransmission due to inadequate availability of necessary micronutrients to support cell growth. We aimed to analyze neurocognitive development in infants with malnutrition and its association with long chain polyunsaturated fatty acids (LC-PUFA), micronutrients levels and magnetic resonance spectroscopy (MRS) findings. Methods: The study included two groups; group 1, infants with malnutrition (n=24), group 2; healthy infants (n=21). Peripheral blood was obtained from the participants for studying micronutrients and LC-PUFA levels. The neurocognitive development was analyzed by the use of an Ankara Developmental Screening Inventory test. MRS were performed on all infants. Results: All parameters of neurocognitive development and serum calcium ($9.6{\pm}0.9mg/dL$ vs. $10.4{\pm}0.3mg/dL$, p<0.05) and magnesium ($2.02{\pm}0.27mg/dL$ vs. $2.2{\pm}0.14mg/dL$, p<0.05) levels were noted as being low in infants with marked malnutrition. No difference was found in LC-PUFA levels between healthy and malnourished infants. Thalamic choline/creatine levels were significantly high in infants with malnutrition ($1.33{\pm}0.22$ vs. $1.18{\pm}0.22$, p<0.05). Total neurocognitive development in infants was positively correlated with serum calcium levels (p<0.05, r=0.381). Conclusion: Calcium supplementation may improve neurocognitive development in malnourished infants.

• 한국식품영양과학회지
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• 제13권2호
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• pp.156-162
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• 1984

casein, soy protein, corn gluten의 세가지 단백질 식이를 임신기 및 수유기 동안 어미쥐에게 섭취시킨후 출생시부터 생후 21 일까지의 새끼쥐의 세포 발달을 관찰한 결과는 다음과 같다. 1) 새끼쥐의 출생시 체중은 corn gluten군이 case군에 비하여 매우 유의적으로 낮았고 수유기 중에도 그 경향은 계속되었다. 2) 출생시 새끼쥐의 기관별 무게는, 뇌와 콩팥은 실험군간 유의적 차이가 없었으며 간의 무게는 corn gluten군이 casein군에 비하여 유의적으로 적었다, 그러나 출생 3일이후 뇌, 간, 콩팥의 무게는 생후 21일까지 corn gluten 군이 casein에 비하여 유의적으로 적었으므로 아미노산 조성의 블균형이 기관의 무게를 감소시킴을 나타내었다. 3) 세포의 수를 짐작할 수 있는 DNA함량은 세 기관에서 일반적으로 casein군, soy protein군, corn gluten군의 순서였으나 뇌의 경우는 출생 14일에 , 간의 경우는 14일과 21일에 casein군에 비하여 corn gluten 군이 유의적으로 적었다. 그러므로 아미노산 조성의 불균형에 따른 영향은 세포 발달과정에서 세포수에 큰 영향은 아니지만 간 세포수를 감소 시킴을 알 수 있었다. 4) 총 단백질과 RNA 함량은 뇌의 경우 생후 3일 이후 corn gluten군이 casein군에 비하여 유의적으로 적었으며 100 mg 젖은 무게당 함량은 유의적 차이는 없었다. 간에서는 총 RNA 함량은 corn gluten 군이 출생시부터 유의적으로 적었고 총단백질 함량은 출생 3일이후 매우 유의적으로 적었다. 그러나 100 mg 젖은 무게당 두 지표의 함량은 21일에 RNA 함량이 유의적으로 적었을 뿐 실험군 간 차이가 없었다. 그러므로 기관별 세포의 크기는 세 실험식이간에 차이가 없었다.

• 대한한방소아과학회지
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• 제32권1호
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• pp.54-74
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• 2018

Objectives The purpose of this study is to investigate recent trend of diseases in Korean pediatrics and adolescent patients treated with oriental medicine. Methods Using data from the Korean statistical information service and healthcare bigdata hub, top 500 diseases pediatrics and adolescents that were treated with oriental medicine from 2012 to 2016 in admission and outpatient department was collected. Results From the inpatient study, majority of the subjects were between 15 to 19 years old (62.74%), followed by 10 to 14 years old, 5 to 9 years old and under 5 years old. In the outpatient department study, majority was 15 to 19 years old (36.51%), followed by 10 to 14 years old, under 5 years old, 5 to 9 years old. In systemic division of admission part, the most common disease was musculoskeletal related which was 72.32%, followed by brain, nerve, respiratory, dermatology and digestive related diseases. In systemic division of outpatient department, respiratory disease was the most common (41.81%), followed by digestive, dermatology, brain and nerve diseases. For under 5 years old patient group, respiratory disease was the most common, 29.86%, followed by dermatology, musculoskeletal, digestive related diseases. For 5 to 19 years old group of patients, musculoskeletal disease was most common. For the 5 to 14 years old patient group, respiratory related disease was the most common followed by dermatology and digestive diseases. For 15 to 19 years old patient group, digestive disease was the most common followed by respiratory and dermatology related diseases. For under 5 to 9 years old outpatient group, respiratory disease was the most common, and for under 5-year-old group, digestive, growth development, and dermatology disease were common. For the 5 to 9 years old group of patients, musculoskeletal related disease was the most common followed by digestive and dermatology related diseases. For the 10 to 19 years old patient group, musculoskeletal was the most common. For the 10 to 14 years old patient group, respiratory related disease was the most common followed by digestive, dermatology disease. For the 15 to 19 years old patient group, digestive related disease was the most common followed by respiratory, dermatology diseases. Musculoskeletal disease increased every year, in both inpatient and outpatient. Respiratory, brain, nerve, digestive related diseases were generally decreased. In outpatient, respiratory diseases were increased every year but brain, nerve, digestive related diseases were generally decreased. Conclusions More studies about the oriental medicine in chronic disease, such as allergy, metabolic syndrome, in Korean pediatrics and adolescents are needed.

• Journal of Korean Neurosurgical Society
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• 제60권1호
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• pp.21-29
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• 2017

Objective : The purpose of this study was to analyze outcomes and identify prognostic factors in patients with cerebral metastases from non-small cell lung cancer (NSCLC) treated with gamma knife radiosurgery (GKS) particularly, focusing on associations of biomarkers and systemic treatments. Methods : We retrospectively reviewed the medical records of 134 patients who underwent GKS for brain metastases due to NSCLC between January 2002 and December 2012. Representative biomarkers including epidermal growth factor receptor (EGFR) mutation, K-ras mutation, and anaplastic lymphoma kinase (ALK) mutation status were investigated. Results : The median overall survival after GKS was 22.0 months (95% confidence interval [CI], 8.8-35.1 months). During follow-up, 63 patients underwent salvage treatment after GKS. The median salvage treatment-free survival was 7.9 months (95% CI, 5.2-10.6 months). Multivariate analysis revealed that lower recursive partition analysis (RPA) class, small number of brain lesions, EGFR mutation (+), and ALK mutation (+) were independent positive prognostic factors associated with longer overall survival. Patients who received target agents 30 days after GKS experienced significant improvements in overall survival and salvage treatment-free survival than patients who never received target agents and patients who received target agents before GKS or within 30 days (median overall survival: 5.0 months vs. 18.2 months, and 48.0 months with p-value=0.026; median salvage treatment-free survival: 4.3 months vs. 6.1 months and 16.6 months with p-value=0.006, respectively). To assess the influence of target agents on the pattern of progression, cases that showed local recurrence and new lesion formation were analyzed according to target agents, but no significant effects were identified. Conclusion : The prognosis of patients with brain metastases of NSCLC after GKS significantly differed according to specific biomarkers (EGFR and ALK mutations). Our results show that target agents combined with GKS was related to significantly longer overall survival, and salvage treatment-free survival. However, target agents were not specifically associated with improved local control of the lesion treated by GKS either development of new lesions. Therefore, it seems that currently popular target agents do not affect brain lesions themselves, and can prolong survival by controlling systemic disease status.

• 한국식품영양학회지
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• 제28권3호
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• pp.404-414
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• 2015

Taurine is one of the most abundant free ${\beta}$-amino acids in the human body that accounts for 0.1% of the human body weight. It has a sulfonic acid group in place of the more common carboxylic acid group. Mollusks and meat are the major dietary source of taurine, and mother's milks also include high levels of this amino acid. The leukocytes, heart, muscle, retina, kidney, bone, and brain contain more taurine than other organs. Furthermore, taurine can be synthesized in the brain and liver from cysteine. There are no side effects of excessive taurine intake in humans; however, in case of taurine deficiency, retinal abnormalities, reduced plasma taurine concentration, and other abnormalities may occur. Taurine enters the cell via a cell membrane receptor. It is excreted in the urine (approximately 95%) and feces (approximately 5%). Taurine has a number of features and functions, including conjugation with bile acid, reduction of blood cholesterol and triglyceride levels, promotion of neuron cell differentiation and growth, antioxidant effects, maintenance of cell membrane stability, retinal development, energy generation, depressant effects, regulation of calcium level, muscle contraction and relaxation, bone formation, anti-inflammatory effects, anti-cancer and anti-atherogenic effects, and osmotic pressure control. However, the properties, functions, and effects of taurine require further studies in future.

• 혜화의학회지
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• 제9권1호
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• pp.469-501
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• 2000

In the literature study on the cerebral palsy, the results were as follows : 1. Cerebral palsy is defined as a disorder of movement and posture due to a defect or lesion of the immature brain. For practical purposes it is useful to exclude from cerebral palsy those disorders of posture and movement which are of short duration, due to a progressive disease due solely to mental deficiency. 2. Cerebral Palsy is classified with quadriplegia, diplegia, hemi plegia, triplegia, and monoplegia or spastic CP, athetoid CP, ataxic CP, and combined classifications 3. Causes of Cerebral Palsy is any damage to the developing brain, whether caused by genetic or developmental disorders. And it is classified with prenatal.natal and postnatal causes. 4. Management consists of helping the child achieve maximum potential in growth and development. This should be started as early as possible with identification of the very young child who may have a developmental disorder. Certain medications, surgery, and braces may be used to improve nerve and muscle coordination and prevent dysfunction. 5. The aim of treatment is to encourage children and adults to learn to be as independent as possible. Some children and adults who have mild cerebral palsy will have no problems in achieving independence 6. Oji(五遲), Oyeon(五軟) and Okyeong(五硬) have the simmiar concepts with the cerebral palsy. 7. Oji(五遲) Oyeon(五軟) and Okyeong(五硬) are caused by seoncheon-pumbu-bujok(先天稟賦不足) and related with gan(肝), bi(脾) and sin(腎). 8. The treatment is achieved by the method of bogansin(補肝腎), ganggeungol(强筋骨) and boiungikki(補中益氣). And jihwanghwan(地黃丸) has been used most frequently.