• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• Nutrition Research and Practice
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• v.10 no.4
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• pp.386-392
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• 2016

BACKGROUND/OBJECTIVES: Changes in nutritional status during gestation and lactation have detrimental effects on offspring metabolism. Several animal studies have shown that maternal high-fat diet (HFD) can predispose the offspring to development of obesity and metabolic diseases, however the mechanisms underlying these transgenerational effects are poorly understood. Therefore, we examined the effect of maternal HFD consumption on metabolic phenotype and hepatic expression of involved genes in dams to determine whether any of these parameters were associated with the metabolic outcomes in the offspring. MATERIALS/METHODS: Female C57BL/6 mice were fed a low-fat diet (LFD: 10% calories from fat) or a high-fat diet (HFD: 45% calories from fat) for three weeks before mating, and during pregnancy and lactation. Dams and their male offspring were studied at weaning. RESULTS: Dams fed an HFD had significantly higher body and adipose tissue weights and higher serum triglyceride and cholesterol levels than dams fed an LFD. Hepatic lipid levels and mRNA levels of genes involved in lipid metabolism, including $LXR{\alpha}$, SREBP-2, FXR, LDLR, and ABCG8 were significantly changed by maternal HFD intake. Significantly lower total liver DNA and protein contents were observed in dams fed an HFD, implicating the disturbed liver adaptation in the pregnancy-related metabolic demand. HFD feeding also induced significant oxidative stress in serum and liver of dams. Offspring of dams fed an HFD had significantly higher serum cholesterol levels, which were negatively correlated with liver weights of dams and positively correlated with hepatic lipid peroxide levels in dams. CONCLUSIONS: Maternal HFD consumption induced metabolic dysfunction, including altered liver growth and oxidative stress in dams, which may contribute to the disturbed cholesterol homeostasis in the early life of male mice offspring.

• Asian Spine Journal
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• v.12 no.6
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• pp.1028-1036
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• 2018

Study Design: Single-center, observational, case-control study. Purpose: Comparison and analysis of the metabolic and coagulative profiles in patients with idiopathic scoliosis, patients with congenital scoliosis, and healthy controls. Overview of Literature: Serum melatonin deficiency has been a controversial topic in the etiopathogenesis of scoliosis. Low bone mineral density, low vitamin D3 levels, and high parathyroid hormone levels are common metabolic abnormalities associated with scoliosis that may be responsible for its pathogenesis. In addition to metabolic defects, several studies have shown coagulation defects that either persist from the preoperative period or occur during surgery and usually lead to more than the expected amount of blood loss in patients undergoing deformity correction for scoliosis. Methods: The study population (n=73) was classified into those having congenital scoliosis (n=31), those with idiopathic scoliosis (n=30), and healthy controls (n=12). After detailed clinicoradiological evaluation of all the subjects, 10-mL blood samples were collected, measured, and analyzed for various metabolic and coagulation parameters. Results: The mean serum melatonin levels in patients with idiopathic scoliosis were significantly lower than those in the healthy controls. Although the mean serum melatonin level in the congenital group was also low, the difference was not statistically significant. Serum alkaline phosphatase and parathyroid hormone levels were higher in the scoliosis groups, whereas the vitamin D level was lower. No differences were observed in the coagulation profiles of the different groups. Conclusions: Low serum melatonin levels associated with scoliosis can be a cause or an effect of scoliosis. Moreover, low bone mineral density, high bone turn over, and negative calcium balance appear to play an important role in the progression, if not the onset, of the deformity.

• Clinics in Shoulder and Elbow
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• v.25 no.4
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• pp.257-264
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• 2022

Background: Chronic subscapularis tendon tear (SBT) is a degenerative disease and a common pathologic cause of shoulder pain. Several potential risk factors for chronic SBT have been reported. Although metabolic abnormalities are common risk factors for degenerative disease, their potential etiological roles in chronic SBT remains unclear. The purpose of this study was to investigate potential risk factors for chronic SBT, with particular attention to metabolic factors. Methods: This study evaluated single shoulders of 939 rural residents. Each subject undertook a questionnaire, physical examinations, blood tests, and simple radiographs and magnetic resonance imaging (MRI) evaluations of bilateral shoulders. Subscapularis tendon integrity was determined by MRI findings based on the thickness of the involved tendons. The association strengths of demographic, physical, social, and radiologic factors, comorbidities, severity of rotator cuff tear (RCT), and serologic parameters for SBT were evaluated using logistic regression analyses. The significance of those analyses was set at p<0.05. Results: The prevalence of SBT was 32.2% (302/939). The prevalence of partial- and full-thickness tears was 23.5% (221/939) and 8.6% (81/939), respectively. The prevalence of isolated SBT was 20.2% (190/939), SBT combined with supraspinatus or infraspinatus tendon tear was 11.9% (112/939). In multivariable logistic regression analysis, dominant side involvement (p<0.001), manual labor (p=0.002), diabetes (p<0.001), metabolic syndrome (p<0.001), retraction degree of Patte tendon (p<0.001), posterosuperior RCT (p=0.010), and biceps tendon injury (p<0.001) were significantly associated with SBT. Conclusions: Metabolic syndrome is a potential risk factor for SBT, as are these factors: overuse activity, diabetes, posterosuperior RCT, increased retraction of posterosuperior rotator cuff tendon, and biceps tendon injury.

• Clinical Nutrition Research
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• v.13 no.1
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• pp.51-60
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• 2024

Obesity and overweight pose a significant public health problem, as they are associated with an elevated risk of metabolic syndrome (MetS). Several studies have shown that diet quality is associated with the development of MetS risk factors. Analyzing dietary patterns may be more helpful in determining the relationship between eating habits and chronic diseases compared to focusing on single foods or nutrients. In this study, our objective was to evaluate the association of food quality score (FQS) with risk factors for MetS in individuals with obesity and overweight. The participants in this cross-sectional study were 340 adults with overweight and obesity. Participants' food intake was measured using a Food Frequency Questionnaire, then the FQS was calculated. A fasting blood sample assessed serum glucose, triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol, and serum insulin levels. Fat-free mass, height, basal metabolic rate, socio-economic score, and waist-to-hip ratio significantly differed among FQS tertiles. TC, systolic and diastolic blood pressure, and fasting blood glucose were significantly lower in the highest tertile of FQS. After multivariable adjustment, our results showed that individuals in the third tertile of FQS had reduced risk of higher levels of TC (odds ratio [OR], 0.982; 95% confidence interval [CI], 0.970-0.984) and higher levels of low-density lipoprotein cholesterol (OR, 0.974; 95% CI, 0.974-0.999). Our findings demonstrate an inverse relationship between diet quality, as measured by FQS, and MetS risk factors. However, further experimental and longitudinal investigations are warranted to elucidate the causal nature of this association.

• Korean Journal of Radiology
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• v.24 no.1
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• pp.51-61
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• 2023

Objective: To develop and test a machine learning model for classifying human papillomavirus (HPV) status of patients with oropharyngeal squamous cell carcinoma (OPSCC) using ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG) PET-derived parameters in derived parameters and an appropriate combination of machine learning methods in patients with OPSCC. Materials and Methods: This retrospective study enrolled 126 patients (118 male; mean age, 60 years) with newly diagnosed, pathologically confirmed OPSCC, that underwent ¹⁸F-FDG PET-computed tomography (CT) between January 2012 and February 2020. Patients were randomly assigned to training and internal validation sets in a 7:3 ratio. An external test set of 19 patients (16 male; mean age, 65.3 years) was recruited sequentially from two other tertiary hospitals. Model 1 used only PET parameters, Model 2 used only clinical features, and Model 3 used both PET and clinical parameters. Multiple feature transforms, feature selection, oversampling, and training models are all investigated. The external test set was used to test the three models that performed best in the internal validation set. The values for area under the receiver operating characteristic curve (AUC) were compared between models. Results: In the external test set, ExtraTrees-based Model 3, which uses two PET-derived parameters and three clinical features, with a combination of MinMaxScaler, mutual information selection, and adaptive synthetic sampling approach, showed the best performance (AUC = 0.78; 95% confidence interval, 0.46-1). Model 3 outperformed Model 1 using PET parameters alone (AUC = 0.48, p = 0.047) and Model 2 using clinical parameters alone (AUC = 0.52, p = 0.142) in predicting HPV status. Conclusion: Using oversampling and mutual information selection, an ExtraTree-based HPV status classifier was developed by combining metabolic parameters derived from ¹⁸F-FDG PET/CT and clinical parameters in OPSCC, which exhibited higher performance than the models using either PET or clinical parameters alone.

• Proceedings of the Korean Society of Near Infrared Spectroscopy Conference
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• 2001.06a
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• pp.1629-1629
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• 2001

The knowledge of the nutrition in animal production is difficult to assess due of difficulty to determine the amount and quality of feeds intake, mainly if forages are the most important compound in the diet. It must be able to know responses to the metabolic process in lactating dairy cows earring out feeds evaluation trials. These metabolism studies with cows, requires measurements of: I) The amount of all feeds consumed. II) Excretion of faeces. III) Excretion of urine. Taking as a basis these trials, forage and total intake, dietary digestibility and balances of nitrogen and energy can be calculated. However, these feeds evaluation experiments with animals are very time consuming and expensives. The faeces excreted by animals containt undigested residues of the diet consumed. For this reason, their analysis can be an successful tool to determine the amount and quality of feed intake and other important biological parameters. The aim of this work was to know if faeces analysis by NIR could be used to determine with enough accuracy some attributes of different lactating dairy cows diets, using a global equation, developed on an heterogeneus population. For this purpose a total of 79 faecal samples from eight grass, three grass silages and two maize silages metabolic trials, on six cows each one, were used to constitute the initial population. The calibration equations were developed to predict forage and total intake, organic matter digestibility, digestibility coefficient of crude energy and digestibility energy. The combination of several trials with different diets and animal conditions gave promising results.

• Korean Journal of Exercise Nutrition
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• v.13 no.1
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• pp.37-44
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• 2009

The purpose of this study was to investigate the change of bone metabolic parameters between climbing exercise training and treadmill running training with alpha lipoic acid supplementation in ovariectomized rats. Fifty-six Sparague-Dawley, 8 weeks of age, were assigned into nine groups: normal control at pre-test (Pre-NC), normal control at post-test (NC), sham-sedentary (SS), ovariectomized-control (OVX-Con), ovariectomized-ALA inject (OVX-ALA), ovariectomized-climbing exercise (OVX-CE), ovariectomized-ALA inject+climbing exercise (OVX-ACE), ovariectomized-treadmill exercise (OVX-TE) and ovariectomized-ALA inject+treadmill exercise (OVX-ATE). The climbing exercise group voluntarily climbed the 200 cm tower to drinking water from the bottle set at the top of it. The treadmill exercise group was performed the 60 min treadmill running with grade 6-8%, and velocity 10-15 m/min. The frequency of exercise training was performed 6 days per wk in both training intervention. For the comparison of bone metabolic responses following to different training intervention, the strength, length and weight of femur, total bone density, bone mineral contents, deoxypyridioline, osteocalcin and parathyroid hormone, estradiol and lutenizing hormone were measured in this study. The body weight was higher in the OVX-Con, OVX-ALA and OVX-TE groups as compared to NC group. The total bone mineral density of OVX-ACE showed a higher value than SS, OVX-Con, OVX-ATE and OVX-TE. But urine and blood metabolic parameters showed no significance among groups. In conclusion, this study results suggested that climbing exercise training and alpha lipoic acid supplementation may an effective intervention for prevention of osteoporosis in ovriectomized rats.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.110-114
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• 2020

Background: Subclinical hypothyroidism (SH) is a common condition in obese children. However, its effect on glucose and lipid metabolism in obese children remains controversial. Purpose: The present study aimed to investigate the association between SH and metabolic parameters. Methods: A total of 215 obese children and adolescents aged 6-18 years were included in this retrospective cross-sectional study. The patients' anthropometric measurements such as thyrotropin (TSH), free thyroxine (fT4), fasting plasma glucose, and insulin levels, as well as homeostasis model assessment for insulin resistance (HOMA-IR) index, and lipid profiles were evaluated. The patients were allocated to the SH group (fT4 normal, TSH 5-10 mIU/L) (n=77) or the control group (fT4 normal, TSH<5 mIU/L) (n=138). The glucose and lipid metabolisms of the 2 groups were compared. Results: SH was identified in 77 of 215 patients (36%). Mean body mass index was similar in both groups. The mean serum insulin, HOMA-IR, and triglyceride (TG) levels were higher and the mean high-density lipoprotein cholesterol level was lower in the SH group than in the control group (P=0.007, P=0.004, P=0.01, and P=0.02, respectively). A positive correlation was observed between TSH level and insulin level, HOMA-IR, and TG level. Conclusion: SH was identified in some of the obese children and adolescents. A clear association was observed between SH, insulin resistance, and dyslipidemia in obese children.

• Investigative and Clinical Urology
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• v.59 no.6
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• pp.399-409
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• 2018

Purpose: To analyze data from an observational, prospective, cumulative registry study in 805 hypogonadal men stratified by mild or moderate-to-severe lower urinary tract symptoms (LUTS) according to International Prostate Symptom Score. Materials and Methods: A total of 412 men underwent testosterone therapy (TTh) with injectable testosterone undecanoate, 393 men served as untreated controls. Measures of urinary function, anthropometric and metabolic parameters were performed at least twice per year. Results: Data from 615 men with mild LUTS (253 treated, 362 untreated) and 190 with moderate-to-severe LUTS (159 treated, 31 untreated) were available. During a follow-up period of 8 years a significant improvement of LUTS was noted for all TTh-patients whereas the control-groups showed deterioration or fluctuation around initial values. Despite advancing age, TTh fully prevented worsening of symptoms. In parallel, a considerable improvement of anthropometric parameters, lipids and glycemic control, blood pressure, C-reactive protein, and quality of life was found. Moderate-to-severe LUTS was associated with worse cardiometabolic risk profile at baseline as well as worse cardiovascular outcomes during follow-up in comparison to mild LUTS. Effect size of TTh was more pronounced in men with moderate-to-severe than with mild LUTS. Conclusions: Correcting hypogonadism by TTh is highly effective and safe for improving LUTS in hypogonadal men. TTh may also improve cardiometabolic risk and major adverse cardiovascular events.