• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.

• Journal of Oral Medicine and Pain
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• v.38 no.1
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• pp.7-17
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• 2013

The purpose of this study is to investigate the relationship between personality type and symptoms of oral mucosa disease. 393 college students completed the MBTI(Myers-Briggs Type Indicator) and a questionnaire and collected data were analyzed by SAS 9.2 program. The obtained results were as follows : 1. Dysgeusia(p<0.05) and xerostomia(p<0.01) occurred significantly more frequently in I type than E type. 2. Herpetic stomatitis, recurrent aphthous ulcer, glossitis, dysgeusia, burning mouth syndrome and xerostomia seemed to occur more frequently in S type than in N type. 3. Most symptoms of oral mucosa disease seemed to occur the most frequently in the type including NF among 16 types of personality of MBTI. 4. Most subjects had negative attitude in curing their symptoms of oral mucosa disease(p<.0001). Significantly more subjects with I type than E type had negative attitude in curing herpetic stomatitis(p<0.01) and dysgeusia(p<0.05). 5. Most symptoms of oral mucosa disease appeared to occur the most frequently in nervous or sensitive subjects. Therefore a guideline for the individual cure of oral mucosa diseases meeting personality type is necessary.

• Journal of Chest Surgery
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• v.20 no.3
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• pp.582-587
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• 1987

Castleman`s disease, giant lymph node hyperplasia, is a rare benign disease. The lesion usually consists of a single node, unassociated with any abnormality of the adjacent lymph nodes or other organs. In the first accounts of giant lymph node hyperplasia of Castleman, the lesion was described as solitary and localized to the mediastinum, which is still the most frequent site of involvement. The disease occurs in all age groups and there is no particular sex preference. It is symptomless and is usually detected on chest films as an incidental finding. On a single involvement, it does not recur after excision, whether total or partial, and the main indication of operation is to rule out more serious tumors. Recently multicentric form appears to be a variant of classic giant lymph node hyperplasia and is associated with significant morbidity and mortality. Histologically, two distinct types have been reported; hyaline-vascular and plasma cell. The hyaline-vascular type of lesion is much more common than the plasma cell type. We report two cases of the hyaline-vascular type of Castleman`s disease.

• Korean Journal of Veterinary Research
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• v.55 no.3
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• pp.163-167
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• 2015

Canine parvovirus (CPV) is a major diarrhea-causing agent in puppies. Since CPV type 2 (CPV-2) emerged in 1978, new antigenic variants including CPV-2a, CPV-2b, and CPV-2c have been identified in many countries. Two puppies died suddenly at a veterinary clinic in Gyeonggi province, South Korea. Two viruses were isolated in A72 cells, confirmed as CPV strains based on a CPV rapid kit and an indirect fluorescence test and designated QIACP1403 and QIACP1404. The nucleotide sequences of complete VP2 genes of QIACP1403 and QIACP1404 were determined, and the corresponding amino acid sequences were deduced. Molecular analyses revealed that the QIACP1403 and QIACP1404 isolates were type CPV-2b. Several mutated amino acids were detected on VP2 gene residues of the two isolates. Phylogenetic analyses showed that the two isolates were most closely related to strain CPV-BM11, which was isolated from Chinese dogs in 2011. Our results suggest that these isolates may be a candidate for a vaccine to prevent CPV infection in dogs after conducting passages of the isolates in an in vitro culture system.

• Journal of Medicine and Life Science
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• v.15 no.1
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• pp.19-22
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• 2018

Castleman's disease is a benign lympho-proliferative disorder that commonly occurs in mediastinum. It is known that the disease rarely occurs in mesentery. Most localized abdominal Castleman's diseases are histologically hyaline vascular type. The contrast-enhanced CT in patient with hyaline vascular type Castleman's disease shows a well-defined mass with homogenously intense enhancement. On the other hand, the patient with plasma cell variant has systemic symptoms, but not specific imaging features. We report a unicentric plasma cell variant Castleman's disease in mesentery nearby superior mesenteric artery as presenting a single mass, not accompanied by systemic symptoms with similar characteristics to hyaline vascular type.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.31 no.3
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• pp.194-201
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• 2021

Objectives: The purpose of this study was to identify the distribution of diagnostic disease among applicants for shoulder musculoskeletal disease. Methods: In 2020, 47 diagnostic disease applicants were investigated for sociodemographic, health, work, job, and diagnostic disease characteristics. The data were corrected through on-site visits and analyzed using descriptive statistics with SPSS WIN23.0. Results: Most of the applicants were male and elderly. They had high blood pressure(38.3%) and diabetes (21.3%), and the drinking rate and smoking rate were also high. The most common type of employment was daily workers, and it was confirmed that the working condition was poor due to excessive working hours and short rest times. Most of the applicants for shoulder diagnostic diseases were in the construction industry, and the most common diagnostic disease was a rotator cuff tear. Conclusions: It is necessary to develop a musculoskeletal disease prevention program suitable for construction workers to reduce their work-related disease. When establishing a program, business type, task, and diagnostic disease must be considered.

• Korean Journal of Veterinary Research
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• v.60 no.3
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• pp.183-186
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• 2020

This paper describes the development of neurological signs of two prematurely born calves four days after birth. The pathological examination results indicated fibrinopurulent polyserositis, including meningoencephalitis with suppurative bronchopneumonia. Bovine viral diarrhea virus subtype 2a was detected in most of the internal organs, and the bacterial colonies cultured from the samples were identified as Klebsiella (K.) pneumoniae. Molecular analysis via multilocus sequence typing identified a different K. pneumoniae isolate in each calf-type 14 in calf A and type 65 in calf B. This is the first report identifying K. pneumoniae sequence types 14 and 65 in cattle.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.8-14
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• 2023

The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

• BMB Reports
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• v.52 no.12
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• pp.679-688
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• 2019

The decrease of metabolism in the brain has been observed as the important lesions of Alzheimer's disease (AD) from the early stages of diagnosis. The cumulative evidence has reported that the failure of mitochondria, an organelle involved in diverse biological processes as well as energy production, maybe the cause or effect of the pathogenesis of AD. Both amyloid and tau pathologies have an impact upon mitochondria through physical interaction or indirect signaling pathways, resulting in the disruption of mitochondrial function and dynamics which can trigger AD. In addition, mitochondria are involved in different biological processes depending on the specific functions of each cell type in the brain. Thus, it is necessary to understand mitochondrial dysfunction as part of the pathological phenotypes of AD according to each cell type. In this review, we summarize that 1) the effects of AD pathology inducing mitochondrial dysfunction and 2) the contribution of mitochondrial dysfunction in each cell type to AD pathogenesis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.15-21
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• 2003