• Annals of Clinical Neurophysiology
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• v.16 no.2
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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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• v.46 no.3
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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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• v.22 no.6
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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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• v.23 no.2
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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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• v.3 no.1
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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.

• Research in Plant Disease
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• v.15 no.3
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• pp.236-241
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• 2009

The objective of this study was to find an environment friendly method of ginseng storage disease control using a natural plant extract. Essential oil was evaluated in terms of its antifungal ability against a variety of ginseng storage pathogens, and a variety of essential oils was conducted in order to assess the possibility of applying them as a component of a disease control strategy. Direct treatment with essential oil was demonstrated to exert a ginseng storage control effect. Methyl eugenol and thymol were shown to exert a mycelial growth inhibition effect of 80% on PDA media, using a paper disc containing 200 ppm of essential oil against Botrytis cinerea. The application of direct methyl eugenol treatment to ginseng resulted in a profound control effect. Both spray and dipping treatment of each methyl eugenol as well as thymol, evidenced a disease develoment of 10-20% as compared with the over 80% observed from all non-treated packages. Methyl eugenol in the large packages resulted in a disease index of 0.60 in the two essential oil treatments and also a small diseased area, as compared with the disease index of 1.65 and the wide diseased area observed in the non-treatment groups. Treatment with a mixture (methyl eugenol + thymol) in the synergistic effect test resulted in a relatively wide diseased area, as no discernable synergistic effect was detected. Methyl eugenol and thymol can be utilized as control agents in an environmentally friendly ginseng storage treatment, owing to the avirulent and clear effects detected in this study. In particular, ginseng must be ingested when fresh, and this is why a product for the control of ginseng storage diseases is so necessary.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.74-83
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• 2011

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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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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• v.5 no.1
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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.

• Food Science and Preservation
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• v.2 no.2
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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.