• Clinical and Experimental Pediatrics
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• v.64 no.10
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• pp.511-518
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• 2021

The prevalence of childhood obesity is increasing worldwide at an alarming rate. While obesity is known to increase a variety of cardiovascular and metabolic diseases, it also acts as a risk factor for the development and progression of chronic kidney disease (CKD). During childhood and adolescence, severe obesity is associated with an increased prevalence and incidence of the early stages of kidney disease. Importantly, children born to obese mothers are also at increased risk of developing obesity and CKD later in life. The potential mechanisms underlying the association between obesity and CKD include hemodynamic factors, metabolic effects, and lipid nephrotoxicity. Weight reduction via increased physical activity, caloric restriction, treatment with angiotensin-converting enzyme inhibitors, and judicious bariatric surgery can be used to control obesity and obesity-related kidney disease. Preventive strategies to halt the obesity epidemic in the healthcare community are needed to reduce the widespread deleterious consequences of obesity including CKD development and progression.

• Genomics & Informatics
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• v.17 no.1
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• pp.2.1-2.12
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• 2019

Chronic obstructive pulmonary disease (COPD) is a type of progressive lung disease, featured by airflow obstruction. Recently, a comprehensive analysis of the transcriptome in lung tissue of COPD patients was performed, but the heterogeneity of the sample was not seriously considered in characterizing the mechanistic dysregulation of COPD. Here, we established a new transcriptome analysis pipeline using a deconvolution process to reduce the heterogeneity and clearly identified that these transcriptome data originated from the mild or moderate stage of COPD patients. Differentially expressed or co-expressed genes in the protein interaction subnetworks were linked with mitochondrial dysfunction and the immune response, as expected. Computational protein localization prediction revealed that 19 proteins showing changes in subcellular localization were mostly related to mitochondria, suggesting that mislocalization of mitochondria-targeting proteins plays an important role in COPD pathology. Our extensive evaluation of COPD transcriptome data could provide guidelines for analyzing heterogeneous gene expression profiles and classifying potential candidate genes that are responsible for the pathogenesis of COPD.

• Childhood Kidney Diseases
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• v.27 no.1
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• pp.19-25
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• 2023

Proteinuria is an important risk factor for renal and cardiovascular disease. It is associated with a risk for glomerulonephritis, chronic kidney disease, and end-stage renal disease. Therefore, if persistent proteinuria is detected, kidney biopsy is considered to diagnose and treat the underlying disease. Recently, variants in the cubilin (CUBN) gene, which is associated with albuminuria, have been reported. This gene encodes cubilin, a membrane glycoprotein receptor expressed in the renal proximal tubules. Cubilin is a component of the megalin and cubilin-amnionless complex that mediates albumin reabsorption into the proximal tubules through endocytosis. A defect in cubilin leads to a reduction in albumin reuptake, resulting in albumin-dominant proteinuria. Although numerous controversies exist, several reports suggest that cubilin defects lead to proteinuria with a high portion of albuminuria but may not impair renal filtration function. If albuminuria due to reduced cubilin function is confirmed as a benign condition, we can consider using genetic studies to detect CUBN mutations in patients with proteinuria and they may not require any treatment or kidney biopsy. Here, we review recent papers on CUBN mutations and discuss the prognosis and management of individuals with this mutation.

• Archives of Plastic Surgery
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• v.42 no.2
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• pp.214-217
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• 2015

Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns-Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.

• Biomolecules & Therapeutics
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• v.27 no.3
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• pp.276-282
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• 2019

${\beta}$-amyloid precursor protein (APP) can be cleaved by ${\alpha}$-, and ${\gamma}$-secretase at plasma membrane producing soluble ectodomain fragment ($sAPP{\alpha}$). Alternatively, following endocytosis, APP is cleaved by ${\beta}$-, and ${\gamma}$-secretase at early endosomes generating ${\beta}$-amyloid ($A{\beta}$), the main culprit in Alzheimer's disease (AD). Thus, APP endocytosis is critical for $A{\beta}$ production. Recently, we reported that Monsonia angustifolia, the indigenous vegetables consumed in Tanzania, improved cognitive function and decreased $A{\beta}$ production. In this study, we examined the underlying mechanism of justicidin A, the active compound of M. angustifolia, on $A{\beta}$ production. We found that justicidin A reduced endocytosis of APP, increasing $sAPP{\alpha}$ level, while decreasing $A{\beta}$ level in HeLa cells overexpressing human APP with the Swedish mutation. The effect of justicidin A on $A{\beta}$ production was blocked by endocytosis inhibitors, indicating that the decreased APP endocytosis by justicidin A is the underlying mechanism. Thus, justicidin A, the active compound of M. angustifolia, may be a novel agent for AD treatment.

• Journal of Microbiology and Biotechnology
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• v.32 no.9
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• pp.1103-1109
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• 2022

Deoxypodophyllotoxin (DPT), a naturally occurring flavonolignan, possesses several pharmacological properties, including anticancer property. However, the mechanisms underlying DPT mode of action in oral squamous cell carcinoma (OSCC) remain unknown. This study aimed to investigate the anticancer effects of DPT on OSCC and the underlying mechanisms. Results of the MTT assay revealed that DPT significantly reduced the cell viability in a time- and dose-dependent manner. Flow cytometry analysis revealed that DPT induces apoptosis in OSCC cells in a dose-dependent manner. Moreover, DPT enhanced the production of mitochondrial reactive oxygen species (ROS) in OSCC cells. Mechanistically, DPT induced apoptosis in OSCC cells by suppressing the PI3K/AKT signaling pathway while activating the p38 MAPK signaling to regulate the expression of apoptotic proteins. Treatment with SC79, an AKT activator, reversed the effects of DPT on AKT signaling in OSCC cells. Taken together, these results provide the basis for the use of DPT in combination with conventional chemotherapy for the treatment of oral cancer.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.18-22
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• 2005

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). This enzyme defect results in lysosomal glycogen accumulation in multiple tissues and cell types, with cardiac, skeletal, and smooth muscle cells the most seriously affected. Infantile-onset Pompe disease is uniformly lethal. Affected infants present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, followed by death from cardiorespiratory failure or respiratory infection, usually by 1 year of age. Late-onset forms is characterized by a lack of severe cardiac involvement and a less severe short-term prognosis. Enzyme replacement therapy for Pompe disease is intended to address directly the underlying metabolic defect via intravenous infusions of recombinant human GAA to provide the missing enzyme. We experienced one case of Pompe disease in 3-years old boy that has improved his exercise ability and cardiac function after GAA enzyme replacement therapy.

• Journal of Periodontal and Implant Science
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• v.32 no.4
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• pp.745-752
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• 2002

Osteomyelitis is an exhaustive disease whose main feature is an inflammation of inner part of bone, bone marrow. In oral and maxillofacial area, we have maxillary and mandibular osteomyelitis and the latter is dominant because of its impaired blood supply. The main cause of osteomyelitis is a bacterial infection and the ways of infections are by periapical odontogenic infection, fracture, post-operative complication, and periodontal disease. The predominant etiologic factor is periapical odontogenic infection mostly caused by advanced dental caries. It is generally believed that periodontal disease could be a cause of osteomyelitis. But periodontal disease is usually confined to the alveolar bone area and not extends to the underlying bone marrow. Accordingly periodontal infection per se rarely cause produce oseomyelitis. Even though osteomyeltis could be occurred by periodontal disease, its virulence of infection is milder than periapical odontogenic infection. So it usually provokes sclerosing or hyperplastic osteomyelitis rather than suppurative type. We had a case of suppurative osteomyelitis caused by periodontal disease and treated it with periodontal and oral and maxillofacial surgical method.

• Pediatric Infection and Vaccine
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• v.24 no.3
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• pp.183-187
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• 2017

Group A streptococcus is a common cause of upper respiratory infection in children; however, it is a rare cause of pseudoaneurysm in pediatrics with only limited reports of cases associated with cardiac surgery and underlying disease. We report a case of infectious pseudoaneurysm of the right internal iliac artery caused by group A streptococcus in a previously healthy 5-year-old boy who presented with scarlet fever and group A streptococcal bacteremia. He was admitted to the hospital with fever, rash on the whole body, and sore throat, accompanied by severe leg pain. He was treated with surgical removal and antibiotics. Because a pseudoaneurysm may develop in children without vascular-related underlying diseases, we should consider the possibility of this important clinical diagnosis in patients with scarlet fever.

• Journal of the Korea Convergence Society
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• v.13 no.5
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• pp.501-508
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• 2022

It has been found that the incidence and mortality of COVID-19 are high in patients with underlying chronic diseases. Amid COVID-19 pandemic, tooth brushing is as important as hand washing for health care. The aim of this study was to identify factors related to the rate of tooth brushing and hand washing in hypertensive patients. We analyzed 62,762 hypertensive patients over the age of 40 from the Community Health Survey 2020. The practice rate of hand washing was higher among women, younger age, higher education level, mask wearers when going out, and tooth brushing practitioners after lunch. The hand washing practice rate was higher in hypertensive patients who practiced tooth brushing. In conclusion, there was the relationship between oral hygiene and personal quarantine. It is necessary to prepare sustainable measures to increase the practice rate of infectious disease prevention behaviors for patients with underlying chronic diseases who are susceptible to COVID-19.