• 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.

• 동의생리병리학회지
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• 제27권2호
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• pp.153-166
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• 2013

Yang deficiency pattern is a representative syndrome differentiation. This article is a study on to which categories of modern diseases yang deficiency is assigned by reference to modern clinical papers and the meaning of yang deficiency interpreted with a perspective of Korean Medicine and a modern perspective. Yang deficiency, yang qi deficiency, lack of yang qi and yang qi debilitation are the words found in "Nei Ching" and yang qi can be interpreted as something to warm, drive and arouse. Zhangzhongjing considered recovery or loss of Yang as the key to life in "Shanghanlun". Danxi proposed "Yang being liable to hyperactivity, Yin being insufficient" and emphasized pathological ministerial fire of Yang exuberance rather than physiological ministerial fire of Yang deficiency. Zhangjingyue proposed "Yang not being in excess, Yin being often deficient" and understood growth and decline of yin qi are all led by yang qi and put emphasis on true yin in addition to yang qi. Diseases of yang deficiency pattern are related with decline of metabolic level, hypofunction of internal secretion, disorder of immune function, disorder of automatic nerve system, sympathetic nerve inhibition, metabolic disorder of microelements, increase of cGMP, change of microcirculation, low speed of blood stream, kidney malfunction. Diseases related with kidney are sterility, polycystic ovary syndrome, spinal stenosis, edema, renal failure, IgA nephropathy, erectile dysfunction, nephritis, prostatitis, benign prostatic hyperplasia, decrease of adrenal cortical hormone by nephrotic syndrome, myelodysplastic syndrome. Disease related with heart are heart failure, arrhythmia, cardiomyopathy, atherosclerosis heart disease, hypertension, hyperlipidemia, pulmonary heart disease. Diseases related with spleen are irritable bowel syndrome, ulcerative colitis. Diseases related with liver are hypothyroidism, liver cirrhosis ascites, hepatitis B, chronic hepatitis, hepatic diabetes. Diseases related with lung are allergic rhinitis, cough variant asthma, bronchial asthma, pulmonary emphysema. And diabetes mellitus, metabolic syndrome, aplastic anemia, headache, encephalatrophy, Alzheimer's disease are also related with yang deficiency.

• Clinical and Experimental Reproductive Medicine
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• 제42권3호
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• pp.86-93
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• 2015

Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.54-56
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• 2013

Propionic acidemia is an inherited organic acid metabolic disorder. During chronic recurrent metabolic crisis, multiple blood transfusions can cause secondary hemochromatosis. We report a patient with propionic acidemia who had iron overload that resulted in liver dysfunction, cardiomyopathy and diabetes. When multiple blood transfusions are unavoidable, use of chelating agents for iron can prevent complications such as diabetes and hemochromatosis.

• IMMUNE NETWORK
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• 제11권2호
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• pp.95-99
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• 2011

Type 1 diabetes is one of the classical examples of organ-specific autoimmune diseases characterized by lymphocytic infiltration or inflammation in pancreatic islets called 'insulitis'. In contrast, type 2 diabetes has been traditionally regarded as a metabolic disorder with a pathogenesis that is totally different from that of type 1 diabetes. However, recent investigation has revealed contribution of chronic inflammation in the pathogenesis of type 2 diabetes. In addition to type 2 diabetes, the role of chronic inflammation is being appreciated in a wide variety of metabolic disorders such as obesity, metabolic syndrome, and atherosclerosis. In this review, we will cover the role of innate immunity in the pathogenesis of metabolic disorders with an emphasis on NLRP3.

• 비만대사연구학술지
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• 제1권2호
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• pp.83-88
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• 2022

Obesity increases the risk of developing metabolic diseases such as hypertension, type 2 diabetes, hyperlipidemia, and cardiovascular diseases, as well as some cancers. To prevent the occurrence of these diseases and death, it is essential to manage obesity. Though there are several treatments for obesity, lifestyle interventions, such as diet and exercise, and drug therapy are most widely used in clinical practice. Among the anti-obesity drugs available, the weight loss effect of naltrexone/bupropion has been well-proven. We present a case study in which naltrexone/bupropion, a glucagon-like peptide-1 agonist, and a sodium-glucose transporter 2 inhibitor showed significant weight loss and improved metabolic parameters. Additionally, the management of type 2 diabetes and hypertension, which are common diseases in patients with obesity, was also included.

• 한국응용약물학회:학술대회논문집
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• 한국응용약물학회 2003년도 Annual Meeting of KSAP : International Symposium on Pharmaceutical and Biomedical Sciences on Obesity
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• pp.29-34
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• 2003

Visceral fat accumulation is known to be an evident clinical index for the insulin resistance related with obesity. Patients with excessive accumulation of visceral fat frequently suffered from metabolic disorder, such as hyperlipidemia, hypertension, and glucose intolerance. However, molecular mechanism for the pathogenesis of obesity-accompanied metabolic disorders has not been fully elucidated. It has been clarified that adipocytes in visceral fat area have different functions from subcutaneous fat area, and these differences might contribute the pathological significance of excessive accumulation of visceral fat for the accompanied insulin resistance and hyperinsulinemia.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.35-40
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제22권1호
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• pp.3-9
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• 2011

Autism and autistic spectrum disorder are chronic neuro-developmental disorders characterized by social and language impairments and stereotyped, repetitive patterns of behavior. The etiology of autism remains unknown; however, a strong genetic component has been detected and environmental factors may also be involved in their etiologies. In the current study, we reviewed evidence for the presence of prenatal and perinatal factors, gastrointestinal factors, food allergies, metabolic and heavy metal factors, and other nutritional factors that may represent risk factors for the development of autism and autistic spectrum disorder.

• 비만대사연구학술지
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• 제1권1호
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• pp.39-42
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• 2022

Obesity is a chronic disease associated with severe complications. A major complication of obesity is depression, which can worsen obesity and vice versa. In addition, most antidepressants or antipsychotics cause weight gain, and the relationship between obesity and depression is clinically critical. However, treatment of obese patients with major depressive disorder is complicated. Bariatric physicians should provide appropriate behavioral interventions alongside pharmacological treatment, considering psychiatric symptoms, drug side effects, and drug interactions. Two successful cases of moderate-to-severe obese patients with major depressive disorder who had been treated for obesity using behavioral intervention therapy along with liraglutide will be discussed. This report highlights the safety and efficacy of liraglutide treatment of obesity in patients with depression who take antidepressants and antipsychotics.