• Biomedical Science Letters
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• v.18 no.3
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• pp.260-267
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• 2012

Obesity is associated with cardiovascular risk factors, such as dyslipidemia, hypertension and diabetes. However the presence of the obesity related deranged metabolic profiles varies widely among obese individuals. These individuals, known as 'metabolically healthy obese phenotype (MHO)', despite having excessive body fatness, display favorable metabolic profiles characterized by insulin sensitivity, no hypertension, as well as less dyslipidemia, less inflammation. The purpose of this study was to compare cardiac characterization and clinical profile of MHO and Non-MHO (nonmetabolically healthy obese) subjects in men. We measured treadmill exercise capacity (METs) and maximum blood pressure (BP) in 210 subjects through a medical checkup at J General Hospital. Metabolic syndrome was defined according to the modified Adult Treatment Panel III definition criteria. Both MHO and Non-MHO subjects showed statistically significant changes in the left ventricular mass index (P<.001, P<.01, respectively), A-velocity (P<.01, P<.001, respectively), E/A ratio (P<.01, P<.001, respectively), E'-velocity (P<.001, P<.001, respectively), HOMA-IR (P<.01, P<.001, respectively) and maximum systolic BP (P<.01, respectively) compared with the MH-NO (metabolically healthy non obese) subjects. In conclusion, MHO participants were at increased risk of cardiovascular disease and partly metabolic disorder.

• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.211-216
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• 2014

Asthma comprises a heterogeneous group of disorders characterized by airway inflammation, airway obstruction, and airway hyperresponsiveness (AHR). Airway inflammation, which induces AHR and recurrence of asthma, is the main pathophysiology of asthma. The fractional exhaled nitric oxide (FeNO) level is a noninvasive, reproducible measurement of eosinophilic airway inflammation that is easy to perform in young children. As airway inflammation precedes asthma attacks and airway obstruction, elevated FeNO levels may be useful as predictive markers for risk of recurrence of asthma. This review discusses FeNO measurements among early-childhood wheezing phenotypes that have been identified in large-scale longitudinal studies. These wheezing phenotypes are classified into three to six categories based on the onset and persistence of wheezing from birth to later childhood. Each phenotype has characteristic findings for atopic sensitization, lung function, AHR, or FeNO. For example, in one birth cohort study, children with asthma and persistent wheezing at 7 years had higher FeNO levels at 4 years compared to children without wheezing, which suggested that FeNO could be a predictive marker for later development of asthma. Preschool-aged children with recurrent wheezing and stringent asthma predictive indices also had higher FeNO levels in the first 4 years of life compared to children with wheezing and loose indices or children with no wheeze, suggesting that FeNO measurements may provide an additional parameter for predicting persistent wheezing in preschool children. Additional large-scale longitudinal studies are required to establish cutoff levels for FeNO as a risk factor for persistent asthma.

• Journal of Veterinary Clinics
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• v.16 no.2
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• pp.272-275
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• 1999

Generally, it is known that the composition of the cation of the dog's RBCs is high in potassium(K) and low in sodium(Na). However, it is reported that certain kinds of dogs have HK, HG phenotype which contains a large amount of reduced glutathione(GSH) by the effect of Na-K pump on the cell membrane of RBC with high concentration of K and low concentration of Na. Although this HK phenotype is not regarded as a disease, it is supposed to be an important assignment to examine the distribution and the occurrence rate of the dogs that contain HK cell in their RBCs for the proper clinical treatments as these HK dogs are very sensitive to aromatic disul-fide or onions and have a tendency to cause hemolysis. Accordingly, present study was performed to measure the concentration of K, Na and GSH in the RBCs of Jindo dogs and that of Dosa dogs at the same time.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.121-124
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• 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

• The Journal of Pediatrics of Korean Medicine
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• v.24 no.1
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• pp.117-125
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• 2010

Objectives The purpose of this study is to examine the effect of chondrocyte re-differentiation in using ukmijihwang-Tang gamibang aqua-acupuncture. Methods In this study, chondrocytes were extracted from New Zealand white rabbit's knee joint, and cultured in monolayer after collagenase treatment. In the third passage, after the mRNA transcript of the type II collagen significantly reduced, diluted Yukmijihwang-Tang gamibang were added to cultured of chondrocyte, and its effect on the mRNA expression of type II collagen was quantitatively evaluated. Results As a result of treatment with Yukmijihwang-Tang gamibang in vitro for 48 hours, the mRNA expression of type II collagen was up-regulated. In addition, the result of H&E-staining in vivo indicated that chondrocyte-like tissues were formed in repairing injured cartilages after 12 weeks of treatment with Yukmijihwang-Tang gamibang. Conclusions These results indicated that Yukmijihwang-Tang gamibang was effective on the recovery of chondrocyte phenotype, and could be used for cartilage regeneration in arthritic diseases. However, more clinical study of Oriental medical treatment for this case might be also needed.

• Biomolecules & Therapeutics
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• v.26 no.2
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• pp.101-108
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• 2018

G protein-coupled receptors (GPCRs) are the largest superfamily of transmembrane receptors and have vital signaling functions in various organs. Because of their critical roles in physiology and pathology, GPCRs are the most commonly used therapeutic target. It has been suggested that GPCRs undergo massive genetic variations such as genetic polymorphisms and DNA insertions or deletions. Among these genetic variations, non-synonymous natural variations change the amino acid sequence and could thus alter GPCR functions such as expression, localization, signaling, and ligand binding, which may be involved in disease development and altered responses to GPCR-targeting drugs. Despite the clinical importance of GPCRs, studies on the genotype-phenotype relationship of GPCR natural variants have been limited to a few GPCRs such as b-adrenergic receptors and opioid receptors. Comprehensive understanding of non-synonymous natural variations within GPCRs would help to predict the unknown genotype-phenotype relationship and yet-to-be-discovered natural variants. Here, we analyzed the non-synonymous natural variants of all non-olfactory GPCRs available from a public database, UniProt. The results suggest that non-synonymous natural variations occur extensively within the GPCR superfamily especially in the N-terminus and transmembrane domains. Within the transmembrane domains, natural variations observed more frequently in the conserved residues, which leads to disruption of the receptor function. Our analysis also suggests that only few non-synonymous natural variations have been studied in efforts to link the variations with functional consequences.

• BLOOD RESEARCH
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• v.53 no.4
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• pp.294-298
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• 2018

Background Production of immunosuppressive enzymes such as indoleamine 2,3-dioxygenase (IDO) is one of the strategies employed by hematologic malignancies, including acute myeloid leukemia (AML), to circumvent immune surveillance. Moreover, IDO has the ability to convert $CD4^+CD25^-$ conventional T cells into regulatory T cells (Tregs). In this study, we evaluated the expression of IDO in cytogenetically normal acute myeloid leukemia (CN-AML) patients and its correlation with the Treg marker, FOXP3, as well as clinical and laboratory parameters. Methods Thirty-seven newly diagnosed CN-AML patients were enrolled in our study along with 22 healthy individuals. The expression of the IDO and FOXP3 genes was analyzed by SYBR Green real-time PCR. Results Both IDO and FOXP3 were highly upregulated in CN-AML patients compared to control groups (P=0.004 and P=0.031, respectively). A positive correlation was observed between IDO and FOXP3 expression among AML patients (r=0.512, P=0.001). Expression of IDO and FOXP3 showed no significant correlation with laboratory parameters such as white blood cell and platelet counts, hemoglobin levels, bone marrow blast percentage, gender, and FLT3 mutation status (P>0.05). Conclusion Higher IDO expression in CN-AML patients may be associated with an increased Treg phenotype which may promote disease progression and lead to poor prognosis of CN-AML patients.

• Animal cells and systems
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• v.15 no.4
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• pp.301-309
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• 2011

Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1241-1244
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• 2008

We report on 2 siblings with a partial trisomy of 7q ($7q22{\rightarrow}qter$) and concomitant partial monosomy of 8p ($8p23.3{\rightarrow}pter$), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.1
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• pp.1-12
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• 2022

Inflammation plays an important role in the outcome of patients with cystic fibrosis (CF). It may develop due to cystic fibrosis transmembrane conductance regulator protein dysfunction, pancreatic insufficiency, or prolonged pulmonary infection. Fecal calprotectin (FC) has been used as a noninvasive method to detect inflammation. Therefore, the aim of the current meta-analysis was to investigate the relationship between FC and phenotype severity in patients with CF. In this study, searches were conducted in PubMed, Science Direct, Scopus, and Embase databases up to August 2021 using terms such as "cystic fibrosis," "intestine," "calprotectin," and "inflammation." Only articles published in English and human studies were selected. The primary outcome was the level of FC in patients with CF. The secondary outcome was the relationship between FC and clinical severity. Statistical analysis was performed using Comprehensive Meta-Analysis software. Of the initial 303 references, only six articles met the inclusion criteria. The mean (95% confidence interval [CI]) level of FC was 256.5 mg/dL (114.1-398.9). FC levels were significantly associated with pancreatic insufficiency (mean, 243.02; 95% CI, 74.3 to 411.6; p=0.005; I²=0), pulmonary function (r=-0.39; 95% CI, -0.58 to -0.15; p=0.002; I²=60%), body mass index (r=-0.514; 95% CI, 0.26 to 0.69; p<0.001; I²=0%), and Pseudomonas colonization (mean, 174.77; 95% CI, 12.5 to 337.02; p=0.035; I²=71%). While FC is a reliable noninvasive marker for detecting gastrointestinal inflammation, it is also correlated with the severity of the disease in patients with CF.