• Title/Summary/Keyword: Metabolic disorder

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Experimental model and novel therapeutic targets for non-alcoholic fatty liver disease development

  • Yujin Jin;Kyung-Sun Heo
    • The Korean Journal of Physiology and Pharmacology
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    • v.27 no.4
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    • pp.299-310
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    • 2023
  • Non-alcoholic fatty liver disease (NAFLD) is a complex disorder characterized by the accumulation of fat in the liver in the absence of excessive alcohol consumption. It is one of the most common liver diseases worldwide, affecting approximately 25% of the global population. It is closely associated with obesity, type 2 diabetes, and metabolic syndrome. Moreover, NAFLD can progress to non-alcoholic steatohepatitis, which can cause liver cirrhosis, liver failure, and hepatocellular carcinoma. Currently, there are no approved drugs for the treatment of NAFLD. Therefore, the development of effective drugs is essential for NAFLD treatment. In this article, we discuss the experimental models and novel therapeutic targets for NAFLD. Additionally, we propose new strategies for the development of drugs for NAFLD.

Ginsenosides for the treatment of insulin resistance and diabetes: Therapeutic perspectives and mechanistic insights

  • Tae Hyun Kim
    • Journal of Ginseng Research
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    • v.48 no.3
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    • pp.276-285
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    • 2024
  • Diabetes mellitus (DM) is a systemic disorder of energy metabolism characterized by a sustained elevation of blood glucose in conjunction with impaired insulin action in multiple peripheral tissues (i.e., insulin resistance). Although extensive research has been conducted to identify therapeutic targets for the treatment of DM, its global prevalence and associated mortailty rates are still increasing, possibly because of challenges related to long-term adherence, limited efficacy, and undesirable side effects of currently available medications, implying an urgent need to develop effective and safe pharmacotherapies for DM. Phytochemicals have recently drawn attention as novel pharmacotherapies for DM based on their clinical relevance, therapeutic efficacy, and safety. Ginsenosides, pharmacologically active ingredients primarily found in ginseng, have long been used as adjuvants to traditional medications in Asian countries and have been reported to exert promising therapeutic efficacy in various metabolic diseases, including hyperglycemia and diabetes. This review summarizes the current pharmacological effects of ginsenosides and their mechanistic insights for the treatment of insulin resistance and DM, providing comprehensive perspectives for the development of novel strategies to treat DM and related metabolic complications.

A Case of Clinical Improvement after Enzyme Replacement Therapy in Pompe Disease (효소 보충 치료로 호전을 보인 Pompe병 1례)

  • Jeon, You Hoon;Eun, Baik Lin;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.18-22
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    • 2005
  • Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells the most seriously affected. Infantile-onset Pompe disease is uniformly lethal. Affected infants present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, followed by death from cardiorespiratory failure or respiratory infection, usually by 1 year of age. Late-onset forms is characterized by a lack of severe cardiac involvement and a less severe short-term prognosis. Enzyme replacement therapy for Pompe disease is intended to address directly the underlying metabolic defect via intravenous infusions of recombinant human GAA to provide the missing enzyme. We experienced one case of Pompe disease in 3-years old boy that has improved his exercise ability and cardiac function after GAA enzyme replacement therapy.

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Recombinant Adeno-associated Virus-Mediated Gene Transfer in Homocystinuria Mice (호모시스틴뇨증 동물 모델의 유전자 치료)

  • Park, Eun-Sook
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.5 no.1
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    • pp.9-17
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    • 2005
  • Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine ${\beta}$-synthase (CBS). Patients with homocystinuria show clinical symptoms such as mental retardation, lens dislocation, vascular disease with life-threatening thromboembolisms and skeletal deformities. Generally, the major treatments for CBS deficiency include pharmacologic doses of pyridoxine or dietary restriction of methionine. However, there is no effective treatment for this disease up till today and gene therapy can be an attractive novel approach to treatment of the disease. We investigated whether a recombinant adeno-associated virus could be used as a CBS gene transfer vector to reduce the excessive homocysteine level in the homocystinuria mouse model. Recombinant adeno-associated virus vector encoding the human CBS gene (rAAV-hCBS), driven by EF1-a promoter, was infused into CBS-deficient mice ($CBS^{-/-}$) via intramuscular (IM) and intraperitoneal (IP) injection. IP injection was more efficient than IM injection for prolongation of lives and reduction of plasma homocysteine levels. After 2 weeks of gene transfer by IP injection, serum homocysteine level was significantly decreased in treated mice compared with the age-matched controls and the life span was extended about 1.5 times. Also, increased expression of CBS gene was observed by immunohistochemical staining in livers of treated $CBS^{-/-}$ mice and microvesicular lipid droplets was decreased in cytoplasm of liver. These results demonstrate the possibility and efficacy of gene therapy by AAV gene transfer in homocystinuria mice.

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Cardiometabolic Effects of Obstructive Sleep Apnea and Treatment Effects of Oral Appliance: An Updated Review for Dentists

  • Kim, Hye-Kyoung;Kim, Mee-Eun
    • Journal of Oral Medicine and Pain
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    • v.43 no.3
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    • pp.61-69
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    • 2018
  • Obstructive sleep apnea (OSA) is a relatively common, but greatly underdiagnosed sleep-related breathing disorder, characterized by recurrent collapse of the upper airway during sleep. OSA has been associated with a variety of cardiometabolic disease, such as hypertension, coronary artery disease, cardiac arrhythmia, cerebrovascular disease and metabolic dysfunction. Neurocognitive impairment, including excessive daytime sleepiness, increased risk of motor vehicle accidents, is also related to OSA. Sleep fragmentation and related arousals during sleep lead to intermittent hypoxia, sympathetic activation, oxidative stress, systemic inflammation and metabolic dysregulation which provide biological plausibility to this pathologic mechanism. Extensive studies demonstrated that OSA is a modifiable risk factor for the above mentioned diseases and oral appliances (OAs), although continuous positive air pressure (CPAP) is a first-line therapy of OSA, are not inferior to CPAP at least in mild OSA, and may be an alternative to CPAP in CPAP-intolerant subjects with OSA. The goal of this article is to provide a current knowledge of pathologic link between OSA and cardiovascular disease, focusing on intermittent hypoxia, sympathetic activation, oxidative stress and metabolic dysregulation. Then, previous epidemiologic studies will be reviewed to understand the causal relationship between OSA and cardiovascular disease. Finally, the effects of OAs will be updated via recent metaanalyses compared to CPAP.

A Case of Galactosemia with Novel Mutation in the GALT Gene (새로운 GALT 유전자의 돌연변이에 의한 갈락토스혈증)

  • Kim, Shin Ah;Shin, Young Lim;Hong, Yong Hee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.126-130
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    • 2013
  • Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

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Study on Judgment of Body Form and Settle Energy Flow before Diagnose the Patients (환자를 살피기 전에 보아야 하는 "입형정기(立形定氣)"에 대한 고찰)

  • Ko, Heung
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.27 no.5
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    • pp.509-519
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    • 2013
  • Through the study on judgment of Body form and settle Energy flow(立形定氣) before diagnose the patients, the results are as follows. The observation of the body form is to determine prosperity and deficiency of each internal organ. It is necessary to distinguish Body form loss(形脫) and Body form fullness(形充). Fat man(肥人), Thin man(瘦人), Creamy man(膏人), Muscular man(肉人), Small Fat man(脂人) are discriminated by fat distribution, fat content, and muscle mass. The observation of the body form means the observation of structure disorder, color change, develop part at body, head and face. The observation of the body form that is to determine prosperity and deficiency of each internal organ is from the limited knowledge of the anatomy. The observation of face color is considered by blood perfusion, blood oxygenation and accumulation of carotinoid, bilirubin and change of melanin in the facial skin. The prosperity and the deficiency of energy flow is considered by symptom combined with growth (<40 years) and aging (>40 years). The prosperity of energy flow includes the anger, anxious emotion and the deficiency of energy flow includes the fear, depressive emotion. The breathing type is expiratory exhalation like asthma patients in the prosperity of energy flow. The deficiency of energy flow is weakness to overcome the disease. The prosperity and the deficiency of energy flow are considered by body metabolic ratios (Basal metabolic Rate: BMR, Resting metabolic rate: RMR, Physical activity ratios: PASs). Development of subcutaneous fat is good in the person of prosperous energy flow. The person of prosperous energy flow is hard to overcome to heat weather than cold weather. The person of deficiency of energy flow has tendencies of low blood pressure, insufficiency of blood flow in the peripheral and being shocked. The person of deficiency of energy flow has tendencies of chronic fatigue syndrome or automatic nerve disorder. If the patient who has deficiency of energy flow has severe weight loss should be checked for the presence of disease. The observation of small and large of bone is to check the development and disorder of bone growth and aging. The observation of thickness and weakness of muscle is to check the development of muscle, particularly biceps, gastrocnemius, and rectus abdominal muscle. The observation of thickness and weakness of skin is to check the ability of regulating body temperature by sweating.

Blood Electrolytes and Metabolites in Rat Model of Acute Metabolic and Respiratory Alkalosis (흰쥐 급성 대사성 알칼리증과 호흡성 알칼리증 모델에서 혈액 전해질 및 대사산물)

  • Kim, Shang-Jin;Lee, Mun-Young;Kim, Jin-Shang;Kang, Hyung-Sub
    • Journal of Veterinary Clinics
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    • v.27 no.3
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    • pp.257-261
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    • 2010
  • The development of blood ionic changes could be precipitated in acid-base disorder and subsequent treatment. As technology for detecting circulating ionized $Mg^{2+}$ (the most interesting form with respect to physiological and biological properties) is now available in veterinary clinical medicine. This present study investigated the changes of whole blood ionized $Mg^{2+}$ correlated with acute metabolic and respiratory alkalosis in rodent model. Metabolic alkalosis was induced by intravenous infusion with $NaHCO_3$ and mechanical hyperventilation was applied for respiratory alkalosis. We founded that the blood ionized $Mg^{2+}$ could be reversibly decreased by the $NaHCO_3$-induced acute metabolic alkalosis but irreversibly increased by the mechanical hyperventilation-induced respiratory acidosis and respiratory acidosis. We suggested that the potential change in blood suggested that the potential change in blood ionized $Mg^{2+}$ should be counted in treatment of acid-base disorders.

A Case of Bartter's Syndrome with a Seizure Disorder Associated with Subdural Hematoma (경막하 혈종에 의한 경련이 동반된 Bartter 증후군 1례)

  • Lee, Jae-Jun;Moon, Han-Ku;Park, Yong-Hoon
    • Journal of Yeungnam Medical Science
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    • v.11 no.2
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    • pp.388-397
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    • 1994
  • Bartter's syndrome is a rare tubular disorder characterized by hypokalemic, hypochloremic metabolic alkalosis, hyperreninemic, hyperaldosteronism, hyporesponsiveness to pressor agents and juxtaglomerular apparatus hyperplasia. We report a case of Bartter's syndrome of a 5 month-old male infant with subdural hematoma who was confirmed by characteristic clinical, laboratory findings and kidney biopsy. In addition to a case report, brief review of related lituratures was done.

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The Study of HTMA(Hair Tissue Mineral Analysis) as a Diagnostic Method of Oriental Medicine (한의학적 진단 방법으로서의 모발미네랄검사에 대한 고찰)

  • Song, Yun-Kyung;Lim, Hyung-Ho;Shin, Hyun-Taeg;Choi, Seung-Peom
    • Journal of Korean Medicine for Obesity Research
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    • v.6 no.1
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    • pp.11-26
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    • 2006
  • Hair tissue mineral analysis is widely accepted for assessing essential and toxic elements which can give information about disease, metabolic disorder, nutritional imbalance, drug abuse, environmental exposure and so on. In Oriental Medicine, hair have been used as a diagnostic method which reflects the physiological and pathological status of body, especially kidney system(腎臟) and blood(血) like the quotations from Donguibogam(東醫寶鑑), 'hair belongs to kidney system(髮屬腎)' and 'hair is the remainder of blood(髮者血之餘)' Therefore we have suggested that HTMA have possibility to be utilized for screening and treatment for obesity, growth disorder, general deficiency syndrome(諸虛證), etc. in Oriental Medicine.

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