• Annals of Clinical Neurophysiology
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• 제16권2호
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• pp.81-85
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• 2014

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.

• Mycobiology
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• 제46권3호
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• pp.242-253
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• 2018

Onion (Allium cepa L.) is one of the major vegetable crops in Korea that are damaged and lost by pathogenic fungal infection during storage due to a lack of proper storage conditions. The aim of this study was to determine an appropriate control measure using thymol to increase the shelf life of onions. To control fungal infections that occur during low-temperature storage, it is necessary to identify the predominant fungal pathogens that appear in low-temperature storage houses. Botrytis aclada was found to be the most predominant fungal pathogen during low-temperature storage. The antifungal activity of the plant essential oil thymol was tested and compared to that of the existing sulfur treatments. B. aclada growth was significantly inhibited up to 16 weeks with spray treatments using a thymol solution. To identify an appropriate method for treating onions in a low-temperature storage house, thymol was delivered by two fumigation treatment methods, either by heating it in the granule form or as a solution at low-temperature storage conditions (in vivo). We confirmed that the disease severity was reduced up to 96% by fumigating thymol solution compared to the untreated control. The efficacy of the fumigation of thymol solution was validated by testing onions in a low-temperature storage house in Muan, Jeollanam-do. Based on these results, the present study suggests that fumigation of the thymol solution as a natural preservative and fungicide can be used as an eco-friendly substitute for existing methods to control postharvest disease in long-term storage crops on a commercial scale.

• Journal of Dental Anesthesia and Pain Medicine
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• 제22권6호
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• pp.451-455
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• 2022

Glycogen storage disease (GSD) is a group of inherited disorders, which result in the deficiency of enzymes involved in glycogen metabolism, leading to an accumulation of glycogen in various organs. Deficiency of amylo-1-6-glicosidase (debranching enzyme) causes glycogen storage disease type III (GSD III). The main problems that anesthesiologists face in patients with GSD III include hypoglycemia, muscle weakness, delayed awakening due to abnormal liver function, possible difficulty in airway, and cardiomyopathy. In the face of these difficulties, airway preparation and appropriate glucose monitoring and support during the fasting period are important. The doses of the drugs to be used should be calculated considering the increased volume of distribution and decreased metabolic activity of the liver. We present the case of a child with GSD IIIa who underwent dental prosedation under general anesthesia. She was also being prepared for liver transplantation. This case was additionally complicated by the patient's serious allergic reaction to eggs and milk.

• Journal of Yeungnam Medical Science
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• 제23권2호
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• pp.252-257
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• 2006

Glycogen storage diseases are a heterogeneous group of metabolic disorder affecting multiple organ system: liver, skeletal muscle, heart and brain. Clinical features include: short status, hepatomegaly, hypoglycemia, dyslipidemia and rare involvement of the myocardium except in the case of type III, glycogen storage diseases with hypertrophic cardiomyopathy in adult, which is extremely rare. We treated a case of hypertrophic cardiomyopathy with hepatomegaly that was unknown etiology. The patient was diagnosed as having glycogen storage disease. This 46-year old women was transferred with dyspnea on exertion and abnormal LFTs. She was diagnosed with hypertrophic cardiomyopathy by echocardiography but there was no specific cause for hypertrophic cardiomyopathy. A liver biopsy was performed. The result showed glycogen storage disease possible type III, IV or IX. In conclusion, patients with hypertrophic cardiomyopathy of unknown etiology and abnormal LFTs should be evaluated for glycogen storage disease.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• 식물병연구
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• 제15권3호
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• pp.236-241
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• 2009

본 연구는 정유를 이용하여 환경친화적으로 Botrytis cinerea에 의한 수삼 저장병 방제방법을 개발하기 위하여 수행되었다. 정유의 일종인 methyl eugenol은 200 ppm 농도의 배지상에서 80% 이상의 높은 균사 생육억제 효과를 나타냈다. 상온에서 수삼에 직접 처리 시 무처리구에서 80% 이상의 발병률을 보일 때 methyl eugenol이나 thymol 모두 분무와 침지처리구에서 10~20% 이하로 낮게 발병하여 높은 병 방제효과를 보였다. 저온($4^{\circ}C$)에서의 처리결과도 실온과 비슷하게 포장크기와 상관없이 무처리구에 비해 발병률이 매우 낮게 나타나 역시 실용적인 효과가 뛰어났다. 2 kg 이상을 분석한 대포장 실험에서도 무처리구는 발병지수가 1.65를 보인 반면 methyl eugenol은 0.60으로 개체별 발병면적이 상대적으로 매우 좁게 나타났다. 그러나 두 물질(methyl eugenol+thymol)의 혼합처리에 의한 상승효과는 확인할 수 없었다. Methyl eugenol은 잔류독성이 없고 수삼 저장병 발생 억제효과가 뚜렷해 수삼 저장 시 처리할 수 있는 환경친화적 제제로서 활용 가능하며 특히 신선한 상태로 섭취가 가능해야하는 수삼의 특성으로 볼 때 수삼 저장병 방제제로서의 활용가치는 더욱 클 것으로 판단된다.

• 대한유전성대사질환학회지
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• 제11권1호
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• pp.74-83
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• 2011

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권1호
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• pp.7-10
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• 2018

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2,000 people in a population), which includes lysosomal storage diseases. These diseases are often seen as unimportant especially in developing countries, such as Indonesia, due to small number of patients. National Rare Disease Center in Indonesia was pioneered almost 20 years ago and officially established in 2017 by the Indonesian Minister of Health. Lysosomal storage disease become the most commonly found inborn errors of metabolism (IEM) in Indonesia due to easily accessible diagnostic facilities. Currently there are 7 patients receiving ERT in this mixed-donation scheme, one patient with Gaucher disease and 6 patients with MPS type II. Few challenges for ERT in Indonesia include importation through special access scheme, preparation of ERT infusion in intensive care settting, and cost of treatment. Even with limited resources, healthcare professionals in Indonesia have been giving the best care possible for rare disease patients, especially to provide diagnostic facilities through collaboration and treatment options for treatable rare diseases. Improvements in care for rare disease patients are still needed.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.22-28
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• 2021

Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.

• 한국식품저장유통학회지
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• 제2권2호
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• pp.233-242
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• 1995

This study was conducted to determine the effects of storage conditions on apples treated with postharvest fungicides, benomyl and bitertanol. The fungicideds were applied to control Postharverst disease in apples during CA and cold storage. The stored Apple were tested monthly for weight loss, flesh firmness, titratable acidity, prix and free sugar. Relative to the control group, the pstharvest fungicide stoup had less disease. The fungicide treated apples stored in CA had a higher measured weight, better firmness and maintained acidity, prix and free sugar when compared to the control stoup monthly and after 200days. The fungicide treated apples in cold storage maintained their quality for 120days.