• The Korean Journal of Physiology and Pharmacology
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• 제13권2호
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• pp.79-83
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• 2009

Exposure to early stressful adverse life events such as maternal and social separation plays an essential role in the development of the nervous system. Adolescent Sprague-Dawley rats that were separated on postnatal day 14 from their dam and litters (maternal social separation, MSS) showed hyperactivity and anxiolytic behavior in the open field test, elevated plus-maze test, and forced-swim test. Biologically, the number of astrocytes was significantly increased in the prefrontal cortex of MSS adolescent rats. The hyperactive and anxiolytic phenotype and biological alteration produced by this MSS protocol may provide a useful animal model for investigating the neurobiology of psychiatric disorders of childhood-onset diseases, such as attention deficient hyperactive disorder.

• 대한한방내과학회지
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• 제22권3호
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• pp.443-452
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• 2001

A migraine is a recurrent, throbbing headache generally felt on one side of the head. Migraines usually begin in early childhood, adolescence, or young adult life. Its accurate pathogenesis is still unknown but migraines are caused by a rapid widening and narrowing of blood vessel walls in the brain and head. The classic migraine and the common migraine are the two main types. The onset of classical migraine may be signalled by visual disturbances in what is called the 'aura' stage. Visual aura is most common among the auras of classical migraine. Common migraine (or migraine without aura) and classical migraine may be accompanied by various combinations of symptoms such as nausea, vomiting, and sensitivity to light and sound. Recently we have exprienced 2 cases of migraine patients and whose conditions were improved through trigger point needling and Oriental medical treatment.

• Childhood Kidney Diseases
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• 제10권1호
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• pp.72-76
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• 2006

신 주위 농양은 증상이 비특이적이고 다양하여 임상적으로 진단이 어렵고 치료가 늦어지기 쉬워 합병증과 사망률이 높은 질환이므로, 발열이 지속되는 경우에 감별 진단해야 하는 질환이다. 초음파 촬영술, 전산화 단층 촬영술 등은 신 주위 농양을 조기에 진단하고 적절한 치료 방향을 정하는데 유용하며, 치료 방법으로 항생제 외에 경피적 농흡인, 배농 및 수술 등의 처치가 필요하다. 저자들은 발열이 9일 동안 지속된 환아에서 경피적 배농술로 치료한 신 주위 농양 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.313-320
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• 2019

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.43-47
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• 2019

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

• Childhood Kidney Diseases
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• 제25권2호
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• pp.122-127
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• 2021

C1q nephropathy is a rare glomerulopathy that typically presents with nephrotic syndrome in children. Treatment with immunosuppressive agents renders patients vulnerable to infection and its complications. Gastroenteritis is common in children, and rotavirus is a leading cause. Extraintestinal manifestations of rotavirus have recently been reported; however, there is a paucity of cases exploring the involvement of a rotavirus on the respiratory system. Acute respiratory distress syndrome (ARDS) is a rapid onset respiratory failure characterized by noncardiogenic pulmonary edema and hypoxemia. Causes of ARDS include sepsis, pneumonia, pancreatitis, aspiration, and trauma. In this paper, we report a case of ARDS after rotavirus infection in a child with C1q nephropathy who had been treated with immunosuppressive agents.

• Childhood Kidney Diseases
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• 제28권1호
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• pp.8-15
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• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• Clinical and Experimental Pediatrics
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• 제52권2호
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• pp.220-226
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• 2009

목 적 : 대혈관 합병증은 1형 당뇨병에서 주된 사망 원인으로 합병증을 예방하고 조기에 발견하는 것은 중요하므로, 저자들은 소아-청소년기에 1형 당뇨병으로 진단된 젊은 성인에서 대혈관 합병증의 발생 여부를 알아보고자 혈관초음파 검사를 통해 동맥경화의 초기 변화를 측정하였고, 이 변화와 관련된 위험인자를 분석하기 위해 본 연구를 시행하였다. 방 법 : 서울대학교병원에서 18세 이전에 1형 당뇨병으로 진단받고 추적 관찰 중인 20대의 72명의 환자들과 건강한 20명의 대조군을 대상으로 하였다. 환자들에서 고혈압과 고지혈증의 빈도 및 관련 인자를 알아보았으며, 환자군과 대조군 간에 혈관 초음파 검사를 통해 측정한 FMD, mean IMT를 비교하였고, 위험인자와의 상관성을 분석하였다. 결 과 : 72명의 대상 환자 중 32명(44.4%)에서 고혈압이 있었고, 고혈압군은 정상 혈압군 보다 남자의 빈도(P=0.03)와 평균 체질량지수(P=0.04)가 더 높았다. LDLc이 100 mg/dL 이상으로 측정된 환자는 31명(N=69, 44.9%)이었고, 전체 환자군의 LDLc은 평균 당화혈색소(r=0.32, P=0.008), 하루 총 인슐린 사용량(r=0.27, P=0.02)과 양의 상관관계를 보였다. Mean IMT는 환자군이 대조군 보다 유의하게 더 두꺼웠고($0.43{\pm}0.06$ mm vs $0.39{\pm}0.06$ mm, P=0.03), FMD는 두 군 사이의 통계적 유의성은 없었으나, 환자군 내에서 사춘기발현 이후의 유병기간이 길수록 FMD는 감소하는 경향을 보였다(r=-0.34, P=0.01). 결 론 : 20대의 1형 당뇨병 환자에서도 동맥경화가 진행되고 있으므로 대혈관 합병증의 위험인자에 대한 선별검사 및 이의 조절이 필요하며, 1형 당뇨병이 있는 젊은 성인뿐만 아니라 청소년기의 환자에서도 대혈관 합병증의 위험인자에 대한 주기적인 평가가 필요할 것으로 생각된다.

• Clinical and Experimental Pediatrics
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• 제50권2호
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• pp.170-177
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• 2007

목 적: 소아 IgA 신병증을 발병시 임상 양상 및 병리학적으로 분류하여 이들의 임상 경과와 예후 인자를 조사하고자 한다. 방 법: 1991년부터 2005년까지 서울아산병원 소아과에서 신생검으로 IgA 신병증으로 진단되고 1년 이상 추적 관찰한 61명의 환아를 대상으로 후향적으로 조사하였다. 결 과: 환아들의 발병시 평균 연령은 9.3세였고, 평균 추적관찰 기간은 5.2년 이었다. 전체 61명의 환아 중 남아가 42명 여아가 19명이었다. 최종 추적 관찰시 24명(39.3%)는 정상 소견을 보였고, 30명(49.2%)은 혈뇨 또는 경도의 단백뇨(<$1g/m^2/d$), 5명(8.2%)은 중증도의 단백뇨(${\geq}1g/m^2/d$), 2명(3.3%)은 만성 신부전을 보였다. 추적 관찰 중 지속되는 고혈압의 여부는 임상 경과와 통계적으로 유의한 상관관계가 있었다(P<0.01). Haas 분류는 임상 경과와는 상관관계가 없었다. 그러나 20% 이상의 사구체에서 전경화나 분절 경화 또는 반월체 형성이 있었던 경우 60%에서 지속적인 중증도의 단백뇨와 만성 신부전의 소견을 보여 유의한 상관관계를 보였다(P<0.01). 결 론: 소아 IgA 신병증의 단기간의 추적 관찰 중 임상 경과 및 예후는 비교적 양호하다. 그러나 추적 관찰 중 지속적인 고혈압 및 신생검시 20% 이상의 사구체에서 전경화나 분절 경화 또는 반월체 형성이 있는 경우에서는 나쁜 예후 인자로서 유의한 상관 관계를 보였다. 앞으로 소아 IgA 신병증의 특징에 맞는 조직병리학적 분류가 필요하며, 보다 많은 소아 IgA 신병증 환아의 장기간 추적 관찰을 통한 연구가 이루어져야 할 것이다.