• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• The Korean Journal of Physiology and Pharmacology
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• v.21 no.1
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• pp.11-17
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• 2017

Crohn's disease (CD) is a chronic inflammatory bowel disease with multifactorial causes including environmental and genetic factors. Several studies have demonstrated that the organic cation/carnitine transporter 1 (OCTN1) non-synonymous variant L503F is associated with susceptibility to CD. However, it was reported that L503F is absent in Asian populations. Previously, we identified and functionally characterized genetic variants of the OCTN1 promoter region in Koreans. In that study, four variants demonstrated significant changes in promoter activity. In the present study, we determined whether four functional variants of the OCTN1 promoter play a role in the susceptibility to or clinical course of CD in Koreans. To examine it, the frequencies of the four variants of the OCTN1 promoter were determined by genotyping using DNA samples from 194 patients with CD and 287 healthy controls. Then, associations between genetic variants and the susceptibility to CD or clinical course of CD were evaluated. We found that susceptibility to CD was not associated with OCTN1 functional promoter variants or haplotypes showing altered promoter activities in in vitro assays. However, OCTN1 functional promoter haplotypes showing decreased promoter activities were significantly associated with a penetrating behavior in CD patients (HR=2.428, p=0.009). Our results suggest that the OCTN1 functional promoter haplotypes can influence the CD phenotype, although these might not be associated with susceptibility to this disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.4
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• pp.306-314
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• 2018

Purpose: The objective of this study was to describe the clinical phenotypes of children and adolescents with cystic fibrosis (CF); and to assess the role of pancreatic insufficiency and neonatal screening in diagnosis. Methods: A cross-sectional study was conducted, which included 77 patients attending a reference center of CF between 2014 and 2016. Epidemiological data, anthropometric measurements, and the presence of pulmonary, pancreatic, gastrointestinal and hepatobiliary manifestations were evaluated based on clinical data and complementary examinations. Results: Of the 77 patients, 51.9% were male, with a median age of 147 months (7.0-297.0 months), and the majority showed adequate nutritional status. The most common phenotype was pulmonary (92.2%), followed by pancreatic (87.0%), with pancreatic insufficiency in most cases. Gastrointestinal manifestation occurred in 46.8%, with constipation being the more common factor. Hepatobiliary disease occurred in 62.3% of patients. The group with pancreatic insufficiency was diagnosed earlier (5.0 months) when compared to the group with sufficiency (84.0 months) (p=0.01). The age of diagnosis was reduced following implementation of neonatal screening protocols for CF (6.0 months before vs. 3.0 months after, p=0.02). Conclusion: The pulmonary phenotype was the most common, although extrapulmonary manifestations were frequent and clinically relevant, and should mandate early detection and treatment. Neonatal screening for CF led to earlier diagnosis in patients with pancreatic failure, and therefore, should be adopted universally.

• Journal of Periodontal and Implant Science
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• v.53 no.6
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• pp.417-428
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• 2023

Purpose: To investigate the effect of xenogeneic collagen matrix (XCM) with polydeoxyribonucleotide (PDRN) for gingival phenotype modification compared to autogenous connective tissue graft. Methods: Five mongrel dogs were used in this study. Box-type gingival defects were surgically created bilaterally on the maxillary canines 8 weeks before gingival augmentation. A coronally positioned flap was performed with either a subepithelial connective tissue graft (SCTG) or XCM with PDRN (2.0 mg/mL). The animals were sacrificed after 12 weeks. Intraoral scanning was performed for soft tissue analysis, and histologic and histomorphometric analyses were performed. Results: One animal exhibited wound dehiscence, leaving 4 for analysis. Superimposition of STL files revealed no significant difference in the amount of gingival thickness increase (ranging from 0.69±0.25 mm to 0.80±0.31 mm in group SCTG and from 0.48±0.25 mm to 0.85±0.44 mm in group PDRN; P>0.05). Histomorphometric analysis showed no significant differences between the groups in supracrestal gingival tissue height, keratinized tissue height, tissue thickness, and rete peg density (P>0.05). Conclusions: XCM soaked with PDRN yielded comparable gingival augmentation to SCTG.

• Clinical and Experimental Reproductive Medicine
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• v.42 no.3
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• pp.86-93
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• 2015

Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age.

• Clinical and Experimental Pediatrics
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• v.60 no.3
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• pp.55-63
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• 2017

Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects.

• Journal of Yeungnam Medical Science
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• v.26 no.1
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• pp.1-14
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• 2009

Human bone marrow-derived mesenchymal stem cells (MSCs) are a rare population of undifferentiated cells that have the capacity of self renewal and the ability to differentiate into mesodermal phenotypes, including osteocytes, chondrocytes, and adipocytes in vitro. Recently, MSCs have been shown to reside within the connective tissue of most organs, and their surface phenotype has been well analyzed. Many reports showed that transplanted MSCs enhanced regeneration as well as functional improvement of damaged organs and tissues. The wide differentiation plasticity of MSCs was expected to contribute to their demonstrated efficacy in a wide variety of experimental animal models and in human clinical trials. However, new findings suggest that the ability of MSCs to alter the tissue microenvironment via secretion of soluble factors may contribute more significantly than their capacity for differentiation in tissue repair. This review describes what is known about the cellular characteristics and differentiation potential of MSCs, which represent a promising stem cell population for further applications in regenerative medicine.

• IMMUNE NETWORK
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• v.22 no.6
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• pp.45.1-45.15
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• 2022

Asthma is a chronic airway inflammatory disease characterized by reversible airway obstruction and airway hyperreactivity to various environmental stimuli, leading to recurrent cough, dyspnea, and wheezing episodes. Regarding inflammatory mechanisms, type 2/eosinophilic inflammation along with activated mast cells is the major one; however, diverse mechanisms, including structural cells-derived and non-type 2/neutrophilic inflammations are involved, presenting heterogenous phenotypes. Although most asthmatic patients could be properly controlled by the guided treatment, patients with severe asthma (SA; classified as a treatment-refractory group) suffer from uncontrolled symptoms with frequent asthma exacerbations even on regular anti-inflammatory medications, raising needs for additional controllers, including biologics that target specific molecules found in asthmatic airway, and achieving the precision medicine for asthma. This review summarizes the immunologic basis of airway inflammatory mechanisms and current biologics for SA in order to address unmet needs for future targets.

• Tuberculosis and Respiratory Diseases
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• v.76 no.2
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• pp.53-58
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• 2014

Chronic obstructive pulmonary disease (COPD) is a common airway disease that has considerable impact on disease burdens and mortality rates. A large number of articles on COPD are published within the last few years. Many aspects on COPD ranging from risk factors to management have continued to be fertile fields of investigation. This review summarizes 6 clinical articles with regards to the risk factors, phenotype, assessment, exacerbation, management and prognosis of patients with COPD which were being published last year in major medical journals.

• Archives of Plastic Surgery
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• v.33 no.5
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• pp.616-620
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• 2006

Purpose: The isolated human chondrocytes for cartilage reconstruction and transplantation presents a major problem as these cells would change biologically in vitro. For more effective applications of these cells in the clinical field, it is necessary to get a large amount of cells in a short period without affecting their function and phenotype. Methods: This study reports the effects of placenta extract on chondrocytes in vitro. We initiated this study on the basis of the hypothesis that placenta extract can influence both the proliferation of chondrocytes and their biologic functions(for example, to express cell specific gene or to produce their own extracellular matrix). Chondrocytes in monolayer culture with or without placenta extract were collected and analyzed by MTT assay, ECM assay, and RT-PCR. Results: Placenta extract stimulated the proliferation of chondrocytes in monolayer culture. The phenotype of chondrocytes was well maintained during the expansion in monolayers. Chondrocytes expanded in the presence of placenta extract produced ECM, glycosaminoglycan, abundantly. Compared to chondrocyte expanded in culture medium only, chondrocytes expanded with placenta extract demonstrated higher COL2A1 expression that was biochemically comparable to primary chondrocytes. This study provides an evidence that placenta extract is helpful to expand chondrocytes during tissue cultivation, to maintain their differentiated phenotype and to promote their function. Conclusion: These results suggest that placenta extract during cultivation play an important role in controlling cell behaviors. Furthermore, these results provide a biologic basis for cartilage tissue engineering.