• Journal of Genetic Medicine
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• 제7권1호
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• pp.16-23
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• 2010

많은 내분비 질환이 유전적 요소를 갖고 있다. 단일 유전자 질환에서는 유전적 요인이 주요 원인이나 다인자성 질환에서는 환경과 생활습관 등이 함께 병인으로 작용한다. 유전성 내분비 질환의 분자유전학적 병인에 대한 이해에 대하여 최근 많은 발전이 있어 왔으며 분자유전학적 기술의 응용으로 질환에 대한 이해와 이를 이용한 진단 및 유전 상담에 도움이 되고 있다. 유전학적 검사로 특정 질환의 돌연변이를 증명하는 것은 진단이 모호한 경우에서 정확한 진단과 산전 진단, 보인자 검사에 적용될 수 있다. 그러나 유전자 검사만으로 임신 중절과 관련된 산전 진단에 이용하는 데에는 신중을 기해야 한다.

• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.1-18
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• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.34-38
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• 2021

Prader-Willi syndrome is a complicated genetic disorder caused by a mutation on chromosome 15q11-13. The disease results in morbid obesity due to hyperphagia, growth disturbance, multiple endocrine problems from hypopituitarism, developmental delay, and cognitive or behavioral problems. Recombinant human growth hormone has been used to improve body composition and muscle mass, which plays a main role in treating patients with Prader-Willi syndrome. We describe previous studies showing the efficacy and safety of growth hormone treatment in children with Prader-Willi syndrome and provide treatment guidelines. Growth hormone therapy could be beneficial for children with Prader-Willi syndrome and improve their quality of life.

• Clinical and Experimental Pediatrics
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• 제52권2호
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• pp.152-158
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• 2009

Reduced fetal growth is independently associated with increased risk of health problems in later life, particularly type 2 diabetes and cardiovascular diseases. Insulin resistance appears to be a key component underlying these metabolic complications. It is suggested that detrimental fetal environment may program insulin resistance syndrome. An insulin-resistant genotype may also result in both low birth weight and insulin resistance syndrome, and it is likely that the association of low birth weight with insulin resistance is the result of both genetic and environmental factors. Early postnatal rapid catch-up growth is closely related to risk for subsequent metabolic diseases. Fat mass is strikingly reduced in neonates born small for gestational age (SGA), and recent data suggest that insulin resistance seen in catch-up growth is related to the disproportionate catch-up in fat mass compared with lean mass. Endocrine disturbances are also recognized in SGA children, but overt clinical problems are infrequent in childhood. Cognitive impairment is reported in some children born SGA, especially those who do not show catch-up growth, in whom early neurodevelopmental evaluation is required. Breast feeding, also known to be protective against the long-term risk of obesity, may prevent some intellectual impairment in SGA children. Calorie-dense feeding does not seem to be appropriate in SGA infants. We must balance the positive effect of nutrition on neural development against rapid fat deposition and the future risk of insulin resistance.

• 대한한방소아과학회지
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• 제21권1호
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• pp.11-26
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• 2007

Objectives : The purpose of this study is to investigate the recent tendency of clinical researches of obese children for finding better oriental medicine treatments. Methods : This study was focused on diagnoses, treatments, prognoses and cures of obese children based on 37 of other papers which are J Korean Oriental Med, J Korean Oriental Pediatrics, J Korean Acd Fam Med, J Korean society for the study of obesity, Korea Sport Research, J Korean Academy of Pediatric Allergy and Respiratory Disease, J Korean Society for Health Education and Promotion, Korean J Pediatric, and Korean J Oriental Physiology and Pathology. Results : The rate of obese children has been increased continuously. There are several reasons for increased rate : For example, inadequate eating habit, lack of exercise, and genetic factors such as inherited diseases, and the disorder of the endocrine system. The obesity in childhood or adolescent can cause not only the physical problems but also the mental problems. It is necessary for children to diet, change life style, exercise continuously, and being active in order to prevent child obesity and keep healthy. Obesity can be treated through therapy diet, exercise, behavior modification, drug therapy and operation. Conclusion : It is important to recognize the children obesity, and make better treatments for that in the way of oriental cure. Moreover, additional reports should be keeping up based on continuing clinical researches.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.1-10
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• 2020

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, which is characterized by the oligo/anovulation, hyperandrogenism (HA) and polycystic ovarian morphology which are diagnostic criteria. PCOS has diverse clinical aspects in addition to those diagnostic criteria including increased risk for cardiovascular diseases, metabolic syndrome, dyslipidemia, type 2 diabetes and impaired fertility. Because of the heterogeneity of the disease, the pathogenesis of the disease has not been elucidated yet. Therefore, there is no cure for the endocrinopathy. HA and insulin resistance (IR) has been considered two major pillars of the pathogenesis of PCOS. Recent advances in animal studies revealed the critical role of neuroendocrine abnormalities in developing PCOS. Several pathways related to neuroendocrine origin have been investigated such as hypothalamus pituitary ovarian axis, hypothalamus pituitary adrenal axis and hypothalamus pituitary adipose axis. This review summarizes the current knowledge about the role of HA and IR in developing PCOS. In addition, we review the results of recent genome wide association studies for PCOS. This new perspective improves our understanding of the role of neuroendocrine origins in PCOS and suggest a novel potential therapeutic target for the treatment of PCOS.

• Journal of Acupuncture Research
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• 제21권3호
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• pp.235-248
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• 2004

It has been investigated about aging theory. However, aging mechanism still remains to be unknown. Aging and aging related diseases might be due to oxidative damage and these were modifiable by genetic and environmental factors. For designing an optimal medical treatment and countermeasure against aging and aging related disease, it is necessary to understand the aging mechanism. Acetylcholine(Ach) plays an important role in memory. If someone doesn't have enough Ach, he has a tendency to catch a Alzheimer's disease. Corydalis tuber has been clinically used to treat heart disease, gastrointestinal disease and other diseases including endocrine disease in Oriental medicine. The purpose of this article is to investigate the inhibitory effect on Acetylcholinesterase and scavenging effects on NO, DPPH of Corydalis tuber Acua-acupuncture solution(CTAS). The results are summerised as follows; 1. There is a significant inhibitory effect of $0.01mg/m{\ell}$ CTAS group at 20, 30, 60 minutes and $0.1mg/m{\ell}$ CTAS group at 10, 20, 30, 60 minutes on AchE. 2. There is no significant scavenging effect of CTAS on NO. 3. There is a significant scavenging effect of $0.1mg/m{\ell}$ and $0.01mg/m{\ell}$ CTAS group at 10 minutes but there is no significant scavenging effect at 20, 30, 60 minutes on DPPH. There is a significant scavenging effect of $1mg/m{\ell}$ CTAS group at 10, 20, 30, 60 minutes on DPPH.