• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• IMMUNE NETWORK
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• v.22 no.6
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• pp.46.1-46.25
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• 2022

T-helper-17 (Th17) cells and related IL-17-producing (type17) lymphocytes are abundant at the epithelial barrier. In response to bacterial and fungal infection, the signature cytokines IL-17A/F and IL-22 mediate the antimicrobial immune response and contribute to wound healing of injured tissues. Despite their protective function, type17 lymphocytes are also responsible for various chronic inflammatory disorders, including inflammatory bowel disease (IBD) and colitis associated cancer (CAC). A deeper understanding of type17 regulatory mechanisms could ultimately lead to the discovery of therapeutic strategies for the treatment of chronic inflammatory disorders and the prevention of cancer. In this review, we discuss the current understanding of the development and function of type17 immune cells at the intestinal barrier, focusing on the impact of microbiota-immune interactions on intestinal barrier homeostasis and disease etiology.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• The Journal of Pediatrics of Korean Medicine
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• v.16 no.1
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• pp.125-132
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• 2002

Spinal Muscular Atrophy(SMA) is characterized by degeneration of the anterior horn cells leading to symmetrical muscle weakness and wasting of voluntary muscles. Depending on the age of onset, the maximum muscular activity achieved, and survivorship, 3 types of SMA are recognized: SMA type I=Werdnig-Hoffman disease; SMA type II=an intermediate form; SMA type III = Wohlfart-Kugelberg-Welander disease. We report on a 10-month-old male patient with SMA type II complained cough and sputum. We treated with Bopejungchungtang for his cough and sputum. After administration of Bopejunchungtang cough and sputum decreased and almost disappeared.

• Korean Journal of Veterinary Research
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• v.64 no.1
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• pp.3.1-3.8
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• 2024

Canine distemper virus (CDV), canine adenovirus type 2 (CAV-2), canine parvovirus (CPV), and canine parainfluenza virus 5 (CPIV-5) are the major viral pathogens in dogs. Despite the availability of vaccines for dogs against these 4 viral pathogens, investigations of antibodies against these pathogens have rarely been reported in South Korea. In this study, we investigated the recent incidence of viral diseases in dogs and conducted sero-surveillance for CDV, CAV-2, CPV, and CPIV-5 in Korean dogs. The most frequently diagnosed canine viral disease in Korean dog samples from 2000 to 2022 was CPV infection, which accounted for 48.7% (464/953) of the cases. A total of 400 dog serum samples collected between 2019 and 2022 were screened for the presence of virus-neutralizing antibodies against CDV, CAV-2, CPV, and CPIV-5. The overall seropositivity rates for CDV, CAV-2, CPV, and CPIV-5 were 83.8%, 77.8%, 99.3%, and 82.0%, respectively. The protection rate against CPV was the highest (98.3%) and that against CAV-2 was the lowest (44.8%) in dog sera. Male and female dogs showed no significant differences in seropositivity rates. CDV and CPIV-5 seropositivity increased with age in dogs, and the highest incidence and seropositivity rates of CPV indicated that Korean dogs have been continuously exposed to wild CPV, and that CPV is a pathogen that urgently requires attention among canine viral diseases.

• Nutrition Research and Practice
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• v.17 no.4
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• pp.780-788
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• 2023

BACKGROUND/OBJECTIVES: This study examined the relationship between famine exposure in early life and the risk of type 2 diabetes in adulthood during the 1959-1961 Chinese Famine. SUBJECTS/METHODS: A total of 3,418 individuals aged 35-74 years free of diabetes from two studies in 2006 and 2009 were followed up prospectively in 2009 and 2012, respectively. Famine exposure was classified as unexposed (individuals born in 1962-1978), fetal exposed (individuals born in 1959-1961), child exposed (individuals born in 1949-1958), and adolescent/adult exposed (born in 1931-1948). A logistic regression model was used to assess the relationship between famine exposure and diabetes after adjustment for potential covariates. RESULTS: During a three-year follow-up, the age-adjusted incidence rates of type 2 diabetes were 5.7%, 14.5%, 12.7%, and 17.8% in unexposed, fetal-exposed, child-exposed, and adolescent/adult-exposed groups, respectively (P < 0.01). Relative to the unexposed group, the relative risks (95% confidence interval) for diabetes were 2.15 (1.29-3.60), 1.53 (0.93-2.51), and 1.65 (0.75-3.63) in the fetal-exposed, child-exposed, and adolescent/adult-exposed groups, after controlling for potential covariates. The interactions between famine exposure and obesity, education level, and family history of diabetes were not observed, except for the urbanization type. Individuals living in rural areas with fetal and childhood famine exposure were at a higher risk of type 2 diabetes, with relative risks of 8.79 (1.82-42.54) and 2.33 (1.17-4.65), respectively. CONCLUSIONS: These findings indicate that famine exposure in early life is an independent predictor of type 2 diabetes, particularly in women. Early identification and intervention may help prevent diabetes in later life.

• Journal of Microbiology and Biotechnology
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• v.20 no.3
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• pp.637-642
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• 2010

We investigated the prevalence and the molecular characteristics of vancomycin-intermediate Staphylococcus aureus (VISA) among methicillin-resistant Staphylococcus aureus (MRSA) strains isolated from clinical samples at tertiary or general hospitals participating in a nationwide surveillance program for VISA and vancomycin-resistant Staphylococcus aureus (VRSA) in Korea during an 8-week period in each year from 2001 to 2006. Of 41,639 MRSAs isolated, 37,856 were screened and 169 grew on brain heart infusion agar supplemented with 4 ${\mu}g/ml$ vancomycin. A vancomycin MIC of 4 ${\mu}g/ml$ was confirmed for 33 VISA isolates of the 169 isolates. Eighteen of the 33 isolates were classified as hetero-VISA (hVISA) by the population analysis profile (PAP) method. All VISA isolates were susceptible to linezolid, tigecycline, and quinupristin-dalfopristin. Most VISA isolates (MIC 4 ${\mu}g/ml$) showed a PFGE C pattern with sec, seg, and sei enterotoxin genes, including ST5-SCCmec type II, or a PFGE A pattern with sea, including ST239-SCCmec type III.

• Korean Journal of Veterinary Service
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• v.41 no.3
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• pp.203-210
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• 2018

Pasteurella multocida is an opportunistic organism that plays a significant role in porcine respiratory disease complex (PRDC). In the current study, we provide nationwide information of P. multocida isolates from pneumonic lungs of slaughter pigs by determining their prevalence, subspecies, biovars, capsular types, virulence-associated genes, and minimum inhibitory concentrations. P. multocida was the second most frequently confirmed (19.2%) bacterial pathogen and most of the isolates (88.9%) showed simultaneous infection with other respiratory pathogens, especially Mycoplasma hyopneumoniae (63.3%, P<0.001) and porcine circovirus type 2 (53.3%, P=0.0205). Of 42 isolates investigated, 41 (97.6%) were identified as P. multocida subspecies multocida, and only one isolate was identified as subspecies septica (biovar 5). All the isolates were capsular type A and the most prevalent biovar was biovar 3 (40.5%), followed by biovar 2 (31.0%). Comparing virulence-associated genes and biovars, all biovar 2 isolates exhibited $hgbB^-pfhA^+$ (P<0.001); all biovar 3 (P=0.0002) and biovar 13 (P=0.0063) isolates presented $hgbB^+pfhA^-$. Additionally, all biovar 2 (P=0.0037) isolates and most of biovar 3 (P=0.0265) isolates harbored tadD. P. multocida showed the highest resistance levels to oxytetracycline (73.8%), followed by florfenicol (11.9%). Continuous monitoring is required for surveillance of the antimicrobial resistance and new emerging strains of P. multocida in slaughter lines.

• International Journal of Computer Science & Network Security
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• v.21 no.2
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• pp.9-13
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• 2021

Type 2 diabetes mellitus (T2D) is a complex diabetes disease that is caused by high blood sugar, insulin resistance, and a relative lack of insulin. Many studies are trying to predict variant genes that causes this disease by using a sample disease model. In this paper we predict diabetic and normal persons by using fisher score feature selection, chi-2 feature selection and Logistic Regression supervised learning algorithm with best accuracy of 90.23%.

• Parasites, Hosts and Diseases
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• v.58 no.1
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• pp.61-65
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• 2020

Majority of the imported malaria cases in Korea is attributed to Plasmodium falciparum and P. vivax infections, whereas P. malariae and P. ovale infections are very rare. Falciparum and ovale malaria are mostly imported from Africa, while most of the vivax malaria cases are imported from Southeast Asia. Here, we report 6 Korean imported ovale malaria cases (4 males and 2 females) who had visited in Africa during 2013-2016. These subjects were diagnosed with P. ovale based on microscopic findings, Plasmodium species-specific nested-PCR, and phylogenetic clade using 18S rRNA gene sequences. We identified 2 P. ovale subtypes, 1 P. ovale curtisi (classic type) and 5 P. ovale wallikeri (variant type). All patients were treated with chloroquine and primaquine, and no relapse or recrudescence was reported for 1 year after treatment. With increase of travelers to the countries where existing Plasmodium species, the risk of Plasmodium infection is also increasing. Molecular monitoring for imported malaria parasites should be rigorously and continuously performed to enable diagnosis and certification of Plasmodium spp.