• Journal of Nutrition and Health
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• 제32권5호
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• pp.519-525
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• 1999

The effects of Ganoderma Lucidum consumption (GL) on the liver function and lipid metabolic disorder induced by alcohol consuming were studied in rats using GL powder(1%, 2%, 4%) and 10% ethly alcohol. Thirty-five rats(Sprague-Dawley, male) were divided into five groups and fed experimental diets for seven weeks. The concentrations of serum cholesterol, HDL-cholesterol and triglyceride were the highest in the alcohol group, while the levels were apparently reduced by in groups fed GL. The atherogenic indices(AI) also tended to be higher in the alcohol group. Glutamic oxaloacetic transaminase(GOT) activities were significantly lower in body alcohol + 2% GL and alcohol + 4% GL groups, and glutamic pyruvic transaminase(GPT)activities lower only in the alcohol + 2% GL compared with the alcohol group. Alkaline phosphatase(ALP) activities were not significantly different among the groups. The elevated levels of liver cholesterol and triglyceride due to alcohol consumption, were apparently reduced by GL supplementation. On microscopic observation of liver tissues, fat droplets appeared extensively on the liver-lobule in the alcohol group, while fat droplets appeared only on the central vein in the alcohol + 1% GL group. However, in groups administered 2% and 4% GL, fat droplets appeared similar to the alcohol group. The concentrations of fecal bile acid were significantly increased in groups fed GL. These results indicate that GL exerted some beneficial effects on lipid metabolic disorder caused by long-term alcohol consumption. Thus, it seems that GL may be effective in preventing or curing some aspects of alcohol toxicity. More detailed studies are needed in order to determine proper dietary levels of GL for combating alcohol toxicity.

• 대한유전성대사질환학회지
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• 제16권1호
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• pp.1-9
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• 2016

국내 정부 지원 무료 검사로 진행 중인 6종 신생아 선별 검사에서 호모시스틴뇨증을 진단하기 위해 메티오닌의 증가가 마커로 사용되고 있다. 그러나 실제 고메티오닌혈증에서 감별해야 하는 질환들에는 간질환, tyrosinemia type I (MIM #276700), methionine adenosyltransferase (MAT) I/III 결핍, glycine N-methyltransferase (GNMT) 결핍, adenosylhomocy-steine hydrolase (SAHH) 결핍, adenosine kinase (ADK) 결핍, citrin deficiency (citrullinemia type I) 등이 있다. 고메티오닌혈증의 흔한 원인이자 양성 질환으로 알려졌던 MAT I/III 결핍 질환은 유전 방식에 따라 신경학적 증상 발현 및 치료의 필요성이 보고되고 있어 신생아 선별검사에서 고메티오닌혈증 양성으로 나올 경우 감별 진단 및 처치에 대한 가이드라인이 필요하겠다. 신생아 선별검사에서 고메티오닌혈증 양성으로 나올 경우, 간수치 및 혈장 아미노산 분석, 혈장 총 호모시스테인 수치를 통해 여러 질환 들을 감별할 수 있으며 혈장 총 호모시스테인의 증가가 40 umol/L 미만의 경우에서는 MAT I/III 결핍을 먼저 고려해 볼 수 있겠다. MAT I/III 결핍에서는 우성 유전형일 경우에는 치료가 필요 없지만 열성 유전형에서는 정기적인 발달 지표, 혈장 메티오닌과 총 호모시스테인 수치의 추적이 필요하겠으며 심한 고메티오인혈증(>800umol/L)에서는 저메티오닌식이를, 발달 지연, 뇌말이집 형성 장애가 동반한 경우에는 S-adenosylmethio-nine (SAM) 복용을 고려한다. 호모시스틴뇨증에서는 절반에서 피리독신 반응형을 보이고 피리독신 반응형은 조기에 메티오닌 증가가 없을 수 있기에 선별검사에서 놓칠 수 있다. 치료에는 저메티오닌 식이, 피리독신, 베타인, 엽산 등이 있으며 베타인 투약시 메티오닌 증가로 인한 뇌부종에 대한 주의가 필요하다. 그 외 GNMT, SAHH, ADK 결핍은 현재 환자 수와 예후가 제한적으로 조기 진단 및 치료에 대한 뚜렷한 이득이 명확하지 않은 상태이다. 미국, 유럽의 일부 기관들에서는 낮은 메티오닌 수치로 재메칠화 장애에 대한 선별검사도 시행하고 있어 국내에도 관련 질환에 대한 현황 및 선별검사 도입의 필요성에 대해 논의가 필요하겠다.

• 대한의생명과학회지
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• 제18권3호
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• pp.260-267
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• 2012

Obesity is associated with cardiovascular risk factors, such as dyslipidemia, hypertension and diabetes. However the presence of the obesity related deranged metabolic profiles varies widely among obese individuals. These individuals, known as 'metabolically healthy obese phenotype (MHO)', despite having excessive body fatness, display favorable metabolic profiles characterized by insulin sensitivity, no hypertension, as well as less dyslipidemia, less inflammation. The purpose of this study was to compare cardiac characterization and clinical profile of MHO and Non-MHO (nonmetabolically healthy obese) subjects in men. We measured treadmill exercise capacity (METs) and maximum blood pressure (BP) in 210 subjects through a medical checkup at J General Hospital. Metabolic syndrome was defined according to the modified Adult Treatment Panel III definition criteria. Both MHO and Non-MHO subjects showed statistically significant changes in the left ventricular mass index (P<.001, P<.01, respectively), A-velocity (P<.01, P<.001, respectively), E/A ratio (P<.01, P<.001, respectively), E'-velocity (P<.001, P<.001, respectively), HOMA-IR (P<.01, P<.001, respectively) and maximum systolic BP (P<.01, respectively) compared with the MH-NO (metabolically healthy non obese) subjects. In conclusion, MHO participants were at increased risk of cardiovascular disease and partly metabolic disorder.

• 대한통합의학회지
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• 제9권2호
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• pp.105-108
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• 2021

Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

• 대한조현병학회지
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• 제22권1호
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• pp.14-20
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• 2019

Objectives: To identify factors related to physical health monitoring of patients with schizophrenia spectrum disorder. Methods: A total of 172 patients with schizophrenia spectrum disorder registered in mental health welfare centers and rehabilitation facilities in Gwangju were recruited. Physical health monitoring was defined by two health behaviors; fasting blood tests within recent 2 years in all participants and routine medical check-ups covered by national insurance within recent 5 years in participants aged 40 years or older. Demographic and clinical characteristics including overweight, metabolic syndrome and knowledge about physical illness were compared according to physical health monitoring. Results: Prevalence of overweight and metabolic syndrome were 62.8% and 40.1%, respectively. The rates of fasting blood tests and routine medical check-ups were 34.9% and 67.9%, respectively. The rates of fasting blood tests were significantly higher in general hospital and university hospital compared to mental hospital or private clinic. Rates of routine medical check-ups were significantly lower in individuals using daily rehabilitation service and smokers. Knowledge about cancer and chronic illness were significantly better in individuals receiving routine medical check-ups compared with those not receiving it. Conclusion: Education about physical health should be integrated to mental health service in community mental health center.

• 우울조울병
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• 제16권3호
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• pp.129-133
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• 2018

Objectives : The fourth revision of Korean Medication Algorithm Project for Bipolar Disorder (KMAP-BP) was performed in 2018, to provide newer guidelines for clinicians. In this section, we examined expert opinions to facilitate clinical decisions relative to treating bipolar disorder with medical comorbidity. Methods : The survey was completed by the review committee, consisting of 61 experienced psychiatrists. This part of the survey constitutes treatment strategies, under major medical comorbidities. The executive committee analyzed results, and discussed the final production of algorithm. Results : Aripiprazole was the first-line medication for bipolar patients with metabolic syndrome, cardiovascular, hepatic, renal, and cerebrovascular comorbidities. Ziprasidone also was recommended as the first-line medication in case of metabolic syndrome. Lithium also was regarded as the first-line medication, in case of hepatic problems. Valproate also was considered as the first-line medication, in case of cerebrovascular problems. Conclusion : This study provided the most recent consensus among experts, for treatment of bipolar disorder with physical problems.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.329-332
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• 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.42-47
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• 2014

Gaucher disease is a multisystemic disorder arising from a deficient activity of the lysosomal enzyme glucocerebrosidase, which leads to accumulation of glycosylceraide and other glycolipids in the regiculoendothelial system. The characteristics of Gaucher disease are anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. Enzyme replacement therapy (ERT) has been proven to prevent progressive manifestations of Gaucher disease and effective in improving anemia, thrombocytopenia, bone markers and biomarkers. However, some patient needs still remain unmet because of the inaccessibility of certain sites including brain, bone and various organs. ERT could not Improve the irreversible lesion such as liver fibrosis, hepatopulmonary syndrome, and necrosis or infarction of bone and other organs. Adult patients with Gaucher disease should be screened for longterm complication such as bone disease, pulmonary hypertension, gallstone, and cancer, especially in patients with splenectomy. Parkinsonism and polyneuropathy was also reported among patients with type 1 Gaucher disease, but ERT does not improve neurological function. We need to review the benefits and unmet needs of ERT in Gaucher disease.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.8-11
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• 2021

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

• Biomolecules & Therapeutics
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• 제31권1호
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• pp.16-26
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• 2023

Diabetes is an untreatable metabolic disorder characterized by alteration in blood sugar homeostasis, with submucosal insulin therapy being the primary treatment option. This route of drug administration is attributed to low patient comfort due to the risk of pain, distress, and local inflammation/infections. Nanoparticles have indeed been suggested as insulin carriers to allow the drug to be administered via less invasive routes other than injection, such as orally or nasally. The organic-based nanoparticles can be derived from various organic materials (for instance, polysaccharides, lipids, and so on) and thus are prevalently used to enhance the physical and chemical consistency of loaded bioactive compounds (drug) and thus their bioavailability. This review presents various forms of organic nanoparticles (for example, chitosan, dextron, gums, nanoemulsion, alginate, and so on) for enhanced hypoglycemic drug delivery relative to traditional therapies.