Search

Background: There is a lack of recent research on the changes in risk factors for metabolic syndrome (MetS) in the Asian pediatric population. We aimed to determine the 12-year trends in the prevalence of MetS and relevant lifestyle factors such as smoking, exercise, and calorie intake among Korean adolescents.Methods: We investigated trends in MetS and lifestyle factors among 6,308 adolescents aged 12 to 18 years from the Korea National Health and Nutrition Examination Survey, 2007 to 2018.Results: The prevalence of MetS was stable from 2007 to 2018 (1.7% to 2.2%). There were significant increases in the prevalence of central obesity (from 8.1% to 11.2%, P=0.012) and hyperglycemia (from 5.3% to 10.4%, P

Da-Young Jeong,1 Shin-Hye Kim,1 Moon Young Seo,2 Sin Young Kang,1 Mi Jung Park1 1Department of Pediatrics, Inje University Sanggye Paik Hospital, Seoul, Korea; 2Department of Pediatrics, Uijeongbu Eulji Medical Center, Gyeonggi-do, KoreaCorrespondence: Mi Jung Park; Shin-Hye KimDepartment of Pediatrics, Inje University Sanggye Paik Hospital, 1342, Dongil-ro, Nowon-gu, Seoul, 01757, KoreaTel +82 2 950 8826; +82 2 950 4823Fax +82 2 950 1245; +82 2 950 1246Email pmj@paik.ac.kr; s2635@paik.ac.krPurpose: An adverse lipid profile in adolescence often persists into adulthood, resulting in cardiovascular disease. We aimed to investigate the trends in the prevalence of adverse lipid profiles among Korean adolescents from 2007 to 2018.Patients and Methods: The data were obtained from 9044 adolescents aged 10– 19 years who participated in the Korean National Health and Nutrition Examination Surveys (KNHANES) from 2007 to 2018. Fasting serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels were analyzed.Results: Significantly increasing trends in age-standardized prevalence of hypercholesterolemia [from 5.6% to 9.4% in boys (P = 0.004); from 8.1% to 12.4% in girls (P = 0.01)] and hyper-LDL-cholesterolemia [from 4.3% to 8.0% in boys (P = 0.003); from 6.6% to 9.7% in girls (P = 0.035)] were noted in both sexes. In contrast, the prevalence of hypo-HDL-cholesterolemia decreased significantly from 20.0% to 12.5% in boys (< 0.001) and from 12.4% to 6.9% in girls (P < 0.001). There were no significant changes in the prevalence of hypertriglyceridemia and hyper-non-HDL-cholesterolemia in both sexes. Accordingly, the overall prevalence of dyslipidemia showed only a modest decline in boys (from 31.8% to 28.7%) and a stable trend in girls (from 28.9% to 28.2%).Conclusion: The prevalence of hypercholesterolemia and hyper-LDL-cholesterolemia increased and that of hypo-HDL-cholesterolemia decreased among Korean adolescents over the recent 12 years. Further studies are needed to explain these trends and possible associations with lifestyle factors.Keywords: hypercholesterolemia, cholesterol, dyslipidemia, prevalence, KNHANES

Background and Objectives Endoscopic prelacrimal recess approach (PLRA) was introduced to treat maxillary sinus inverted papilloma (IP) without sacrificing the inferior turbinate and nasolacrimal duct. This study aimed to compare surgical outcomes of prelacrimal recess approach with the conventional Caldwell-Luc approach (CLA) to remove IP of maxillary sinus and to evaluate the usefulness of the PLRA.Subjects and Method We retrospectively reviewed medical records of 51 patients who were treated in our institution for IP of nasal cavity and sinuses between March 2010 and June 2019. Twenty patients had maxillary sinus IP. Sixteen patients underwent endoscopic sinus surgery combined with either CLA (n=8) or PLRA (n=8). Demographic data, surgical technique, site of IP origin, intra- and postoperative complications, duration of follow-up, recurrence rate and pathologic diagnosis were reviewed.Results IP was the pathologic diagnosis for all 16 cases. Gross total removal was achieved in all cases. The mean follow-up period was 20.1 months in CLA group and 12.5 months in PLRA group. There was one case of massive bleeding during operation requiring transfusion and postoperative ICU care in CLA group. On postoperative follow-up, two patients from the CLA group had recurrence during the follow-up period. One patient had numbness around the gingival area, another patient had transient wound dehiscence, and another had persistent oro-antral fistula. In PLRA group, one patient had periorbital swelling after blowing nose; otherwise, no other patient from the PLRA group developed subjective complaints after surgery.Conclusion Endoscopic prelacrimal recess approach showed lower complication rates and recurrence rates compared to CLA. PLRA is a safe and effective method for the excision of primary maxillary sinus IP.

This study was aimed to evaluate the association between urinary bisphenol A (BPA) levels and risk of obesity in Korean adults. We analyzed data from the Korean National Environmental Health Survey (KoNEHS) Cycle 2 (2012–2014) and Cycle 3 (2015–2017). A total of 10,021 participants aged ≥ 19 years were included. Urine dilution was corrected by the covariate-adjusted standardization (CAS) method. We performed meta-analysis, logistic regression analysis by matching all covariates with a 1:1 propensity score, and a 4-knot restricted cubic spline plot model to calculate the odds ratios (ORs) for obesity according to natural log-transformed BPA levels. Mean urinary BPA concentration was 1.12 µg/L in KoNEHS Cycle 2 and 1.32 µg/L in Cycle 3. BPA levels were significantly higher among obese adults than among non-obese adults in both KoNEHS Cycles 2 and 3. In pooled data of KoNEHS Cycles 2 and 3, BPA showed significant positive associations with ORs for obesity in both sexes, which were more prominent in females (linear) than in males (non-linear). These associations were confirmed in spline analyses. CAS-applied BPA concentrations were positively associated with obesity in nationwide representative samples of Korean adults. Further studies are warranted to confirm and elucidate the underlying mechanism.

To compare the validity of the conventional continuous metabolic syndrome score (ccMS) and pediatric simple metabolic syndrome score (PsiMS) for the prediction of MS in Korean adolescents.A total of 2983 adolescents aged 10-18 years who participated in the Korea National Health and Nutrition Examination Survey (2013-2017) were enrolled. The ccMS was calculated by aggregating the sex and age-specific z-scores of body mass index, systolic blood pressure (SBP), glucose, high-density lipoprotein cholesterol (HDL-C), and triglycerides. The PsiMS was calculated using the following formula: 〔2x(waist/height (cm)〕+〔glucose (mg/dL)/100〕+〔triglycerides (mg/dL)/150〕+〔SBP (mmHg)/130〕-〔HDL-C (mg/dL)/40〕.Mean PsiMS was significantly higher in subjects with MS compared with those without MS (3.24 vs. 1.93 in boys, 3.11 vs. 1.80 in girls; P0.001). Both ccMS and PsiMS were significantly higher in subjects with more MS components compared to adolescents with fewer components (P-for-trend0.001). Among the adolescents without MS but in the PsiMS quintile 5, 33.5% presented two or more MS components. The receiver operating characteristic analysis demonstrated an equally good performance of ccMS (AUC = 0.975) and PsiMS (AUC = 0.958) for identifying adolescent MS risk. PsiMS showed a good stratification of MS risk in the generalized linear model.PsiMS is an accurate and efficient scoring system to assess and monitor the risk of adolescent MS in the research and clinical practice.

Purpose To investigate the associations between the urinary levels of polycyclic aromatic hydrocarbons (PAHs) and diabetes mellitus in Korean adults. Materials and Methods We examined the data of 6478 participants aged ≥19 years from the Korean National Environmental Health Survey (KoNEHS) cycle 2 (2012–2014). The urinary levels of 1-hydroxypyrene (1-OHP), 2-naphthol (2-NAP), 1-hydroxyphenathrene (1-OHPhe), and 2-hydroxyfluorene (2-OHFlu) were measured by gas chromatography-mass spectrometry. Diabetes mellitus was defined as a self-report of physician-diagnosed diabetes mellitus or the use of oral hypoglycemics or insulin. Analyses were adjusted for sex, age, body mass index, household income, alcohol consumption, physical activity, urinary creatinine and cotinine, menopausal status, and quartiles of all other PAHs. Results The prevalence of diabetes was 6.5% in the study population. In men, the geometric means of the 2-NAP and 2-OHFlu levels were higher in participants with diabetes mellitus than in those without diabetes mellitus [4.11 vs 3.26 μg/L (P

The recombinant human growth hormone (GH) has been used for the treatment of growth hormone deficiency (GHD) and diverse short stature state, and its physiological and therapeutic effects are well documented. However, since the effect of GH treatment on metabolic disorders has not been well characterized, we injected GH to Western diet-fed low-density lipoprotein receptor-deficient (Ldlr−/−) mice to understand the exact effect of GH on metabolic diseases including atherosclerosis, hepatic steatosis, and obesity. Exogenous GH treatment increased plasma IGF-1 concentration and decreased body weight without affecting serum lipid profiles. GH treatment changed neither atherosclerotic lesion size nor collagen and smooth muscle cells accumulation in the lesion. GH treatment reduced macrophage accumulation in adipose tissue. Importantly, GH treatment attenuated hepatic steatosis and inflammation. The hepatic expression IL-1β mRNA were decreased by GH treatment. The mRNA and protein levels of CD36 were markedly decreased in GH treated mice without significant changes in other molecules related to lipid metabolism. Therefore, the treatment of GH treatment could attenuate hepatic steatosis and inflammation with downregulation of CD36 expression in hyperlipidemic condition.

Childhood obesity is a global health concern. Air pollution is also a crucial health threat, especially in developing countries. Over the past decade, a number of epidemiologic and animal studies have suggested a possible role of pre- or postnatal exposure to air pollutants on childhood obesity. Although no clear mechanism has been elucidated, physical inactivity, oxidative stress, and epigenetic modifications have been suggested as possible mechanisms by which obesity develops due to air pollution. In this review, we summarize and review previous epidemiologic studies linking air pollution and childhood obesity and discuss the possible mechanisms underlying air pollution-induced obesity based on in vivo and in vitro evidence.

Purpose This study was conducted to investigate the distributions of the triglyceride (TG) to high-density lipoprotein-cholesterol (HDL-C) ratio and total cholesterol (TC) to HDL-C ratio, and to explore their usefulness as markers of metabolic syndrome (MetS) in Korean adolescents. Methods We obtained data for 2,721 adolescents (1,436 boys and 1,285 girls) aged 10–18 years who participated in the Korean National Health and Nutrition Examination Surveys from 2008 to 2010. International Diabetes Federation criteria were used to define MetS. Results There were no significant gender-related differences in TG/HDL-C or TC/HDL-C ratios. These lipid ratios showed significant associations with homeostatic model assessment for insulin resistance (HOMA-IR) and waist circumference. Areas under the receiver operating characteristic curve to identify MetS were 0.947 for TG/HDL-C and 0.924 for TC/HDL-C, which were higher than that of HOMA-IR (0.822). Optimal cutoff values (sensitivity, specificity) of TG/HDL-C and TC/HDL-C ratios for MetS prediction were 3.3 (85.7%, 89.9%), and 3.8 (92.9%, 82.8%), respectively. Odds ratio (OR; 95% confidence intervals [CIs]) for MetS in adolescents with TC/HDL-C ratio above the cutoff value was 14.8 (2.8–77.4), while that for TG/HDL-C ratio about the cutoff value was 30.6 (6.0–157.6). In adolescents who had both lipid ratios above the cutoff values, the OR (95% CI) for MetS was 36.2 (7.2–186.2). Conclusion TG/HDL-C and TC/HDL-C ratios are useful markers of metabolic syndrome with high predictive value in Korean adolescents.

Phthalate exposure has been reported to be more associated with obesity in children than in adults. The concentration of di(2-ethylhexyl)phthalate (DEHP) was high temporal variability in spot urine, so additional tools of assessing DEHP exposure were required. Therefore, we used relative metabolite ratios (RMRs) as well as concentrations, and RMRs did not need to be corrected to the creatinine concentration. We aimed to evaluate the levels of urinary DEHP metabolites and their RMRs in obese children in South Korea, and to investigate the potential of RMRs for assessing the risks for childhood obesity. We analyzed the four urinary DEHP metabolites (mono-2-ethylhexyl phthalate (MEHP), mono-(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono-(2-ethyl-5-oxohexyl) phthalate (MEOHP), and mono-(2-ethyl-5-carboxypentyl) phthalate (MECPP)) in 240 children aged 5–16 years, using isotope dilution GC-MS/MS. The children were placed into three groups (“normal weight,” “overweight,” and “obese”) according to body mass index (BMI) percentiles. We statistically compared the concentrations and RMRs of DEHP metabolites among these groups. The obese group had lower MEHP levels, and higher secondary metabolite (MEHHP, MEOHP, and MECPP) levels, than the normal weight group. DEHP metabolite levels did not differ significantly between the normal weight and obese groups, whereas RMRA2 (as the ratio of the molar concentrations of MEOHP to MEHHP) was found to be negatively associated with BMI percentile (β= −0.236, p

This study aimed to assess the association between urinary concentrations of chlorophenols and childhood central obesity. The study subjects were 165 girls (91 with central obesity and 74 with non-central obesity) aged 7–8 years who visited a hospital for regular health check-ups. The urinary concentrations of chlorophenols including 2,4-dichlorophenol (2,4-DCP), 2,5-dichlorophenol (2,5-DCP), 2,4,5-trichlorophenol (2,4,5-TCP), and 2,4,6-trichlorophenol (2,4,6-TCP) were analyzed using liquid chromatography-tandem mass spectrometry. The central obesity group showed significantly higher urinary concentrations of 2,5-DCP (0.56 vs. 0.28 ng/mL) and 2,4,5-TCP (0.06 vs. 0.03 ng/mL) than the non-central obesity group. The sum of molar concentrations of urinary chlorophenols was also significantly higher in the central obesity group than in the non-central obesity group (9.83 vs. 5.26 nmol/L). Girls in the highest quartile of the molar sum of chlorophenols showed significantly higher body mass index (BMI), waist circumference (WC), and waist-to-height ratio (WHtR) compared with the lowest quartile after adjusting for covariates. WC and WHtR, but not BMI, were significantly associated with higher quartiles of the molar sum of chlorophenols (P-for-trend = 0.025 and 0.028, respectively). We found a positive association between chlorophenol exposure and central obesity in Korean girls. Large-scale prospective studies are needed to confirm our findings.

Objectives: Trends in serum lipids among teenagers would be crucial predictors of potential cardiovascular disease in adults. We aimed to investigate the trends in lipid profiles and related factors, including obesity, smoking, exercise, alcohol use, and total fat intakes in Korean adolescents from 2007 to 2018. Methods: We analyzed 5,967 participants aged 12–19 yrs from the Korea NHANES 2007–2018. Fasting total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) levels were measured. Results: All kinds of lipid profiles, except TG, showed increasing trends from 2007 to 2018 (P

Purpose Suboptimal frequency of glycosylated hemoglobin (HbA1c) monitoring is associated with poor diabetes control. We aimed to analyze compliance to HbA1c testing guidelines and explore associated individual and area-level determinants, focusing on regional variation. Methods This cross-sectional study between the period of 2012–2013 was conducted by using the Korean National Health Insurance Research Database, and included 45,634 patients diagnosed with diabetes mellitus, who were prescribed any anti-diabetic medications, including insulin. We calculated the proportion of each HbA1c testing frequency (≥1, ≥2, or ≥4 times per year) stratified by 17 administrative regions. Multilevel and multivariate logistic analyses were performed with regional (proportion of farmer population) and individual characteristics (age, sex, income level, duration of diabetes, and most visited medical institution). Results Overall, 67.3% of the patients received ≥ 1 HbA1c test per year; 37.8% and 6.1% received ≥2 and ≥4 tests per year, respectively. Those managed in secondary-level hospitals or clinics and those living in rural areas were less likely to receive HbA1c testing. Even after adjusting for individual and regional level characteristics, significant area level variation was observed (variance participant coefficients were 7.91%, 9.58%, and 14.43% for testing frequencies of ≥1, ≥2, and ≥4 times a year, respectively). Conclusions The frequency of HbA1c monitoring is suboptimal in Korea, especially in rural areas. Moreover, significant regional variation was observed, implying a contextual effect. This suggests the need for developing policy actions to improve HbA1c monitoring. In particular, access to HbA1c testing in rural primary care clinics must be improved.

Postural dysfunction is one of the most common community health symptoms and frequent chief complaints in hospitals. Sarcopenia is a syndrome characterized by degenerative loss of skeletal muscle mass, muscle quality, and muscle strength, and is the main contributor to musculoskeletal impairment in the elderly. Previous studies reported that loss of muscle mass is associated with a loss of diverse functional abilities. Meanwhile, there have been limited studies concerning postural dysfunction among older adults with sarcopenia. Although sarcopenia is primarily a disease of the elderly, its development may be associated with conditions that are not exclusively seen in older persons. Also, recent studies recognize that sarcopenia may begin to develop earlier in life. The objective of this paper was to investigate the association between the prevalence of sarcopenia and postural dysfunction in a wide age range of adults using data from a nationally representative cohort study in Korea. Korean National Health & Nutrition Exhibition Survey V (KNHANES V, 2010-2012) data from the fifth cross-sectional survey of the South Korean population performed by the Korean Ministry of Health and Welfare were used. Appendicular skeletal muscle mass (ASM)/height (ht)2 was used to define sarcopenia, and the Modified Romberg test using a foam pad ("foam balance test") was performed to evaluate postural dysfunction. ASM/ht2 was lower in women and significantly decreased with age in men. Subjects with sarcopenia were significantly more likely to fail the foam balance test, regardless of sex and age. Regression analysis showed a significant relationship between sarcopenia and postural dysfunction (OR: 2.544, 95% CI: 1.683-3.846, p

Adults with short stature have been previously reported to have increased risk of cardiovascular events and hyper-LDL-cholesterolemia. We aimed to assess the association between height and lipid profiles among Korean adolescents and adults. We analyzed data from the Korea National Health and Nutrition Examination Survey from 2007 to 2015, from 37,889 individuals (aged 12–59 years). In adolescents, total cholesterol (TC) and low density lipoprotein-cholesterol (LDL-C) levels had profound associations with height in both boys and girls, while high density lipoprotein-cholesterol (HDL-C) levels had an inverse association with height only in boys. Height was inversely associated with TC, triglycerides (TG), and LDL-C concentrations in men and women and positively correlated with HDL-C concentration in women. In boys, the odds ratios (ORs) for hypercholesterolemia, hypertriglyceridemia, hyper-LDL-cholesterolemia were higher for shorter subjects (ORs = 2.38~7.01), while only the OR of hyper-LDL-cholesterolemia was significantly higher in girls with short stature (OR = 3.12). In adults, the ORs for hypercholesterolemia, hypo-HDL-cholesterolemia, and hyper-LDL-cholesterolemia were significantly higher in short subjects than in tall subjects after controlling for covariates (ORs = 1.50~2.61). Also, short men showed significantly higher ORs for hypertriglyceridemia (OR = 1.85) than tall men. Short stature was significantly associated with adverse lipid profiles in both adolescents and adults.

A few experimental studies have suggested that mercury exposure might be associated with dyslipidemia, possibly through its interference with the activities of genes and enzymes involved in lipid metabolism. Mercury exposure has been associated with the risk of dyslipidemia and cardiovascular disease in previous adult studies. However, only a few studies have been conducted in pediatric populations. We aimed to assess the associations between total blood mercury concentrations and lipid profiles in Korean adolescents.The study population comprised 1890 adolescents (963 males and 927 females; age: 10-19 years) who participated in the Korea National Health and Nutrition Examination Survey 2010-2013 and 2016 and whose fasting blood samples were obtained to determine their blood mercury concentrations and lipid profiles. We analyzed the distribution of lipid profiles and the prevalence of dyslipidemia based on the total blood mercury concentrations.The geometric mean of the blood mercury concentration was 1.89 μg/L and was significantly higher in males (1.96 μg/L) than in females (1.83 μg/L). The total cholesterol and low-density lipoprotein (LDL) cholesterol levels significantly increased as the blood total mercury concentration increased in males, not in females. High-density lipoprotein cholesterol and triglyceride levels did not show significant associations with total blood mercury levels. The prevalence of hyper-LDL-cholesterolemia also significantly increased in the highest blood mercury quartile group compared with that in the lowest blood mercury quartile group in males (P-for-trend0.001). Male adolescents in the highest total blood mercury quartile group were found to be at higher risk of hypercholesterolemia than those in the lowest quartile group after adjusting for the covariates including obesity [odds ratios (95% confidential interval): 3.72 (1.03-13.4)]. Total blood mercury quartile showed a positive linear relationship with the risk of hyper-LDL-cholesterolemia after controlling for the covariates in males.Our results suggest the potential association between mercury exposure and the risk of hyper-LDL-cholesterolemia in male adolescents.

Dysregulation of glucocorticoid metabolism is known to be a causative factor of obesity. However, only a few studies have evaluated the enzymatic activities involved in glucocorticoid metabolism in the pediatric population.To examine whether circulating glucocorticoid metabolites and their ratios reflecting the activities of metabolic enzyme are associated with obesity and body composition in girls.A total of 227 girls aged 7-13 years (131 control, 45 overweight, 51 obese) were enrolled in this study. Serum concentrations of glucocorticoids (11-deoxycortisol, cortisol, tetrahydrocortisol [THF], allo-THF, allo-dihydrocortisol [allo-DHF], and cortisone) were evaluated by gas chromatography-mass spectrometry. Enzyme activities corresponding to the ratios of cortisol and cortisone to their respective precursors and metabolites were also assessed.Serum levels of allo-THF were significantly higher in obese girls compared with those in overweight and control girls (P = 0.018); however, concentrations of other cortisol metabolites were not significantly different between the groups studied. According to the severity of obesity, increasing trends in the metabolic ratios reflecting the activity of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) [(cortisol + allo-DHF + allo-THF + THF)/cortisone], relative 5α/5β-reductase [allo-THF/THF] activity, and 3α-HSD [allo-THF/allo-DHF] activity, were noted (P-for-trend0.05). Body fat percentage and waist-to-height ratio positively correlated with the activities of 11β-HSD1 and 3α-HSD (P 0.05). Following covariate control, girls with central obesity demonstrated significantly higher metabolic ratios reflecting 11β-HSD1, relative 5α/5β-reductase, and 3α-HSD activities (P 0.05).We found an altered glucocorticoid metabolism suggesting increased production of cortisol by 11β-HSD1 and increased metabolic clearance of cortisol catalyzed by 3α-HSD in girls with central obesity.

Off-vertical axis rotation (OVAR) is a laboratory test to assess the otolith function. This study aimed to analyze the parameters of OVAR in patients with unilateral vestibular hypofunction (UVH) and bilateral vestibulopathy (BVP), and to correlate the parameters of OVAR with those of VEMPs. Ten healthy volunteers, 41 UVH, and 13 BVP patients performed OVAR. Bias component (BIC) and modulation component (MOC) of UVH and BVP patients were compared with those of healthy controls. BIC and MOC were correlated with amplitude and interaural difference (IAD) of cervical VEMP (cVEMP) and ocular VEMP (oVEMP). In UVH patients, the direction of BICs to affected side rotation were reversed and the absolute value of BICs were decreased when they were compared to healthy controls. In BVP patients, BICs were markedly attenuated. MOCs were not changed in UVH and BVP patients. There was no statistically significant correlation between VEMPs and OVAR.

Pediatric obesity has been related to hyperandrogenism and premature adrenarche in previous studies. However, little is known regarding the association between body fat mass and steroidogenic enzyme activities in children.To examine whether body fat mass is associated with serum steroid profiles in girls.We enrolled 242 girls (125 prepubertal, 117 pubertal; age, 7-13 years). Early morning blood samples were drawn at a university hospital to measure serum steroid profiles using gas chromatography-mass spectrometry, and steroidogenic enzyme activities were assessed from the ratios of steroid metabolites.We evaluated serum steroid profiles and estimated steroidogenic enzyme activities and their association with anthropometric indices and body composition.Prepubertal obese girls demonstrated significantly higher progestin, androgens (dehydroepiandrosterone [DHEA], androstenedione [A-dione], T, androsterone), and ratio of steroid metabolites reflecting 17,20-lyase activity [(DHEA + A-dione)/17-hydroxypregnenolone] compared with prepubertal controls. Pubertal obese girls demonstrated significantly higher serum T and androsterone than pubertal controls; however, serum steroid metabolite ratios reflecting steroidogenic enzyme activities did not significantly differ among obese and non-obese girls. Partial correlation analysis revealed that body fat mass was positively correlated with pregnenolone, DHEA, A-dione, T, androsterone, and ratio of (DHEA + A-dione)/17-hydroxypregnenolone in prepubertal girls only. Prepubertal girls with increased body fat mass had significantly higher serum DHEA and ratio of (DHEA + A-dione)/17-hydroxypregnenolone than controls.Increased androgen production in prepubertal obese girls could be at least partly due to increased body fat mass and 17,20-lyase activity.

Objective Auditory neuropathy spectrum disorder (ANSD) is a hearing disorder with impaired signal transmission from the inner ear to the brain. The electrophysiological characteristics of auditory neuropathy (AN characteristics) are marked with presence of otoacoustic emissions (OAE) or cochlear microphonics (CM) in the absence of auditory brainstem response (ABR). This study aimed to review etiologies related to AN characteristics from infants with profound hearing loss (HL), either unilaterally or bilaterally. Study design Prospective cohort study for thirty infants with prelingual profound HL. Methods ABR, OAE, and/or CM were analyzed to identify electrophysiological characteristics. Temporal bone computed tomography and/or internal acoustic canal magnetic resonance imaging were reviewed to identify anatomical abnormalities. The electrophysiological characteristics and cochlear nerve status were analyzed according to the laterality of deafness (unilateral vs bilateral). Results Among the total 41 ears (from 30 infants) with profound HL, 13 ears (7 (36.8%) of 19 ears with unilateral HL and 6 (27.3%) of 22 ears associated with bilateral HL) showed AN characteristics (37.1%), and 21 ears showed cochlear nerve deficiency (CND) (51.2%). AN characteristics was detected about two times more frequently in cases with CND (38.1%) than with anatomically normal cochlear nerve (20.0%), the difference not reaching a statistical significance probably due to a small sample size. Detection of AN characteristics did not differ between unilateral and bilateral profound HL, even though presence of CND was more frequently detected in cases with unilateral profound HL than with bilateral cases. There were at least five types of etiologies related to AN characteristics in 13 ears (from 10 infants) in our series depending on the laterality of deafness and presence of CND. Conclusions This study demonstrates that there were diverse etiologies related to AN characteristics from infants with unilateral or bilateral profound HL. Association between CND and AN characteristics is suggestive but not solid at this moment and AN characteristics is not a fully penetrant feature of CND.

The number of patients with bone metabolic disorders including osteoporosis is increasing worldwide. These disorders often facilitate bone fractures, which seriously impact the patient&rsquo, s quality of life and could lead to further health complications. Bone homeostasis is tightly regulated to balance bone resorption and formation. However, many anti-osteoporotic agents are broadly categorized as either bone forming or anti-resorptive, and their therapeutic use is often limited due to unwanted side effects. Therefore, safe and effective therapeutic agents are needed for osteoporosis. This study aims to clarify the bone protecting effects of oat bran water extract (OBWE) and its mode of action. OBWE inhibited RANKL (receptor activator of nuclear factor-&kappa, B ligand)-induced osteoclast differentiation by blocking c-Fos/NFATc1 through the alteration of I-&kappa, B. Furthermore, we found that OBWE enhanced BMP-2-stimulated osteoblast differentiation by the induction of Runx2 via Smad signaling molecules. In addition, the anti-osteoporotic activity of OBWE was also evaluated using an in vivo model. OBWE significantly restored ovariectomy-induced bone loss. These in vitro and in vivo results showed that OBWE has the potential to prevent and treat bone metabolic disorders including osteoporosis.

Osteoporosis is frequently induced following menopause, and bone fractures result in serious problems including skeletal deformity, pain, and increased mortality. Therefore, safe and effective therapeutic agents are needed for osteoporosis. This study aimed to clarify the bone protecting effects of germinated soy germ extracts (GSGE) and their mode of action. GSGE increased expression of alkaline phosphatase (ALP) and osteocalcin (OCL) by stimulating the expression of runt-related transcription factor 2 (Runx2) and osterix (Osx) through activation of Smad signaling molecules. Furthermore, germination of soy germ increased levels of nutritional components, especially soyasaponin Ab. The anabolic activity of soyasaponin Ab in GSGE was also evaluated. GSGE and soyasaponin Ab significantly protected against ovariectomy (OVX)-induced bone loss and improved bone-specific alkaline phosphatase (BALP) level in mouse serum. These in vitro and in vivo study results demonstrated that GSGE and soyasaponin Ab have potential as therapeutic candidate agents for bone protection in postmenopausal osteoporosis.

The EYA4 gene encodes a 640-amino-acid protein that serves as a transcription factor. This protein contains a highly conserved Eya domain (eya-HR) and a variable domain (eya-VR). Mutations of this gene are known to cause postlingual and progressive sensorineural hearing loss, either as non-syndromic (DFNA10) or syndromic hearing loss, depending on the location of truncation of the mutant protein. Since our previous report, we have recruited 14 families segregating autosomal dominant moderate SNHL. A thorough medical history and physical examination including evaluation of heart problems ruled out any syndromic features in these families. Screening of EYA4 was performed by targeted exome sequencing of 134 known deafness genes (TES-134) from the probands. After basic filtering of the variants, we identified one proband who carried a novel truncation mutation, c.1194delT (p.Met401TrpfsX3) of EYA4, making the frequency of DFNA10 to be 7.14 % (1/14) in Koreans. The variant co-segregated perfectly with a slightly down-sloping, moderate degree of SNHL in the family (SH117), and was not detected in any of the 592 normal control chromosomes. This variant is likely to generate protein products that are truncated just downstream of the eya-VR domain. None of the three affected family members showed any syndromic features, including cardiac problems, which was compatible with a previous genotype-phenotype correlation. The identification of a novel EYA4 truncation mutation associated with DFNA10, rather than syndromic hearing loss, supports a previously reported genotype-phenotype correlation in this gene. Considering its detection rate, EYA4 mutations should be suspected in hereditary moderate hearing loss with a corresponding audiologic configuration, and a cardiac examination should be included in the initial evaluation.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at Severance Children's Hospital, Seoul, Korea, were enrolled in this retrospective study. We diagnosed each patient on the basis of the CIDP diagnostic criteria developed in 2010 by the European Federation of Neurological Societies/Peripheral Nerve Society Guidelines. We present the cases of four pediatric patients diagnosed with CIDP to understand the variable clinical course of the disease in children. Our four patients were all between 8 and 12 years of age. Patients 1 and 2 were diagnosed with acute cerebellar ataxia or Guillain-Barré syndrome as initial symptoms. While patients 1 and 4 were given only intravenous dexamethasone (0.3 mg/kg/day) for 5 days at the first episode, Patients 2 and 3 were given a combination of intravenous immunoglobulin (2 g/kg) and dexamethasone (0.3 mg/kg/day). All patients were maintained with oral prednisolone at 30 mg/day, but their clinical courses were variable in both relapse intervals and severity. We experienced variable clinical courses of CIDP in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval.

Quantitative sterol profiling in obese children and their clinical implications have not been fully investigated. The aim of study was to evaluate the metabolic changes in serum cholesterol and its precursors and metabolites, and their associations with clinical characteristics of childhood obesity. A total of 253 children aged 6-14 years (72 obese, 39 overweight, and 72 normal controls; 147 girls and 106 boys) were recruited. Anthropometric indices, body composition, and fasting total lipid profiles were determined. Serum concentrations of 20 sterols, as their free fraction, were analyzed through gas chromatography-mass spectrometry-based metabolite profiling. There were no significant differences in total- and LDL-cholesterols between groups. Serum levels of the main cholesterol precursors, lanosterol (P0.02) and lathosterol (P0.0001), were significantly higher in obese children. In addition, they showed positive correlations with waist to hip ratio, body fat percent, and body fat mass. The metabolic ratios of lanosterol and lathosterol to cholesterol were also elevated (P0.01 both), indicating the up-regulation of cholesterol biosynthesis with childhood obesity. In contrast, the absorption of plant sterols tended to show a compensatory decrease in obese children. Strong correlations between free cholesterol and total- and LDL-cholesterols were observed (r0.760, P0.001), while there was no correlation with HDL-cholesterols. The levels of total cholesteryl ester were closely associated with triglyceride (r=0.763, P0.001). Quantitative results indicate that childhood obesity may increase cholesterol synthesis while maintaining overall cholesterol homeostasis.

Introduction Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. Objective In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. Methods A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Results Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed) whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated arteriovenous malformation after previous embolization, underwent mass excision or auricular resection depending on the extent of the lesion. No major postoperative complication was recorded. The postoperative follow-up duration varied from 1 month to 19 years, and only one case of unresectable, residual cervicofacial arteriovenous malformation was recorded. Conclusion Auricular arteriovenous malformation is a rarely encountered disease, but should be suspected if a patient presents with a swollen ear and pulsatile tinnitus. Appropriate imaging is essential for diagnosis and evaluation of the extent of disease. As embolization affords only relatively poor control, total surgical removal of the vascular mass is recommended.

The treatment options for Lennox-Gastaut syndrome (LGS), a pediatric epileptic syndrome, are limited, especially in younger children. Rufinamide tablets were safe and effective as an add-on treatment in Korean children and adolescents20 years of age with LGS. This subgroup analysis aimed to evaluate the efficacy and safety of rufinamide tablets in LGS pediatric patients aged 1-4 years.This was a retrospective, observational study in LGS patients aged 1-4 years who received 12 weeks of treatment with rufinamide orally as an adjuvant treatment between April and June 2010. The proportion of responders (patients with a ≥50% reduction in seizure frequency after rufinamide treatment) was evaluated according to the type of seizure. The proportion of patients who were seizure-free was also evaluated. Adverse events (AEs) were evaluated after 12 weeks of treatment.Among the 15 patients evaluated, one discontinued treatment because of worsening seizures 4 weeks after administration of rufinamide. Seven (46.67%) patients were responders and four patients were seizure-free. There were four responders with convulsive seizures, one each for myoclonic seizures and drop attacks, and spasms. The responder rate was increased to 69.23% by long-term treatment of rufinamide. AEs were experienced by three patients. One patient each experienced somnolence, fatigue, and rash.Rufinamide tablets were efficacious and well tolerated in LGS patients aged 1-4 years, at doses up to 1000 mg per day, when given as add-on therapy to other antiepileptic drugs.

The cell-penetrating peptide GV1001 has been investigated as an anticancer agent and recently demonstrated anti-oxidant and anti-inflammatory effects. It has shown a protective effect on a kanamycin (KM)-induced ototoxicity mouse model. In the present study, we administered GV1001 at different time points after inducing hair cell damage, and examined if it rescues hair cell loss and restores hearing. A deaf mouse model was created by intraperitoneal injection of KM and furosemide. First, to test the early temporal change of hearing and extent of hair cell damage after KM and furosemide injection, hearing and outer hair cells (OHCs) morphology were evaluated on day 1, day 2 and day 3 after injection. In the second experiment, following KM and furosemide injection, GV1001, dexamethasone, or saline were given for three consecutive days at different time points: D0 group (days 0, 1, and 2), D1 group (days 1, 2, and 3), D3 group (days 3, 4, and 5) and D7 group (days 7, 8, and 9). The hearing thresholds were measured at 8, 16, and 32 kHz before ototoxic insult, and 7 days and 14 days after KM and furosemide injection. After 14 days, each turn of the cochlea was imaged to evaluate OHCs damage. GV1001-treated mice showed significantly less hearing loss and OHCs damage than the saline control group in the D0, D1 and D3 groups (p < 0.0167). However, there was no hearing restoration or intact hair cell in the D7 group. GV1001 protected against cochlear hair cell damage, and furthermore, delayed administration of GV1001 up to 3 days rescued hair cell damage and hearing loss in KM/furosemide-induced deaf mouse model.

Growth hormone (GH) is important for promotion of somatic growth and the regulation of substrate metabolism. Metabolic action of GH occurs in multiple tissues including the liver, muscle, fat and pancreas either directly or indirectly through insulin-like growth factor 1. The diabetogenic action of GH has been well-described in previous in vivo studies. In this paper, we review the metabolic effects of GH on peripheral tissues focusing on glucose metabolism and insulin resistance, and discuss results from human studies on the long-term effects of GH administration on insulin resistance and hyperglycemia.

Objectives Local administration of 3-nitropropionic acid (3-NP) to the inner ear induces sensorineural hearing loss. Several studies have shown the otoprotective effects of ginkgo biloba extract EGb 761. Moreover, EGb 761 has been reported to activate Sirtuin 1 (SIRT1). The present study was designed to investigate whether EGb 761 prevents 3-NP-induced sensorineural hearing loss and determine its effects on the expression of SIRT1. Methods Sprague Dawley rats were divided into four experimental groups: control group receiving vehicle of 3-NP, EGb group receiving EGb 761, 3-NP group receiving 3-NP, and EGb+3-NP group receiving EGb 761 and 3-NP. EGb 761 was given orally for 5 days. The 3-NP solution was injected into the tympanum 3 days after the start of EGb 761 administration. The auditory brainstem response was recorded before and after the injection. At 4 weeks after the administration of 3-NP or vehicle of 3-NP, cochleae were harvested, and hematoxylin and eosin staining and immunohistochemistry for SIRT1 antibody were performed. Results EGb+3-NP group showed significantly lower threshold shifts than 3-NP group. There was a significant preservation of type II fibrocytes and spiral ganglion cells in EGb+3-NP group than in 3-NP group. In EGb+3-NP group, there was a significantly greater number of SIRT1 immunopositive type II fibrocytes and spiral ganglion cells than in 3-NP group. Calculating the percentage of SIRT1 immunoreactive type II fibrocytes and spiral ganglion cells in viable type II fibrocytes and spiral ganglion cells, respectively, EGb+3-NP group showed significantly higher SIRT1 immunoreactive cells than 3-NP group. Conclusion These results suggest that EGb 761 may prevent hearing loss induced by 3-NP in an acute ototoxic animal model, which appears to be related with SIRT1 expression.

Introduction Cisplatin is a widely used anticancer chemotherapeutic agent. However, it is notorious for its ototoxicity and nephrotoxicity due to induction of reactive oxygen species (ROS). Caffeic acid is a naturally occurring polyphenol present in honey that is known to reduce the generation of oxygen-derived free radicals. The objective of the present study was to evaluate the protective effects and mechanism underlying the effect of caffeic acid on cisplatin-induced ototoxicity in HEI-OC1 auditory cell lines. Methods Cell viability was measured using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Apoptosis was determined by Hoechst 33258 staining and Annexin V-fluorescein isothiocyanate/propidium iodide double staining. Cell cycle stages were analyzed by flow cytometry. The radical-scavenging activity of caffeic acid was assessed using the 1,1-diphenyl-2-picrylhydrazyl (DPPH) assay. The expression levels of caspase-3, -8, and -9, as well as the activity of caspase-3, were evaluated. Results Caffeic acid showed a protective effect against cisplatin-induced HEI-OC1 cell damage as demonstrated by the MTT assay. Caffeic acid decreased cell death by apoptosis and necrosis. Caffeic acid showed strong scavenging activity against the radical DPPH and decreased intracellular ROS production. Caffeic acid decreased the expression of caspase-3 and -8 and increased the activity of caspase-3. Conclusions Caffeic acid attenuated cisplatin-induced hair cell loss in HEI-OC1 cell lines; these effects were mediated by its radical scavenging activity and inhibition of apoptosis.

Background Our aim was to investigate the efficacy and tolerability of levetiracetam as an add-on treatment in pediatric patients with Lennox-Gastaut syndrome. Methods The study was an open-label, multicenter, observational clinical trial of levetiracetam as an add-on treatment in Lennox-Gastaut syndrome. Fifty-five patients aged 1.1-18.6 years (mean, 10.0 years) were enrolled. The study included a 4-8-week titration period and an 8-week maintenance period. The maintenance dose of levetiracetam was 20-80 mg/kg/day, according to its effectiveness and tolerability. The primary end point was reduction in seizure frequency, and related variables were also evaluated. Results Among 55 patents, 51 patients (92.7%) completed the study. Thirty-two patients (58.2%) experienced a more than 50% reduction in seizure frequency, and 15 patients (27.3%) became seizure free. A reduction in seizure frequency of more than 50% was observed in 21 of 36 patients (58.3%) with convulsive seizures, 7 of 12 patients (58.3%) with drop attacks, 2 of 4 patients (50.0%) with myoclonic seizures, and 2 of 3 patients (66.7%) with epileptic spasms. Overall, 34.5% of patients reported adverse events. None of the adverse events were life threatening, and the most common adverse event was hyperactivity (12.7%). Conclusions This study suggests that levetiracetam is a safe and effective treatment in pediatric patients with Lennox-Gastaut syndrome.

Phthalates are commonly used as plasticizers and vehicles for cosmetic ingredients. Phthalate metabolites have documented biochemical activity including activating peroxisome proliferator-activated receptor and antiandrogenic effects, which may contribute to the development of obesity. In vitro and in vivo studies suggest that phthalates have significant effects on the development of obesity, especially after prenatal exposure at low doses. Although few studies have examined the effects of phthalate on obesity development in humans, some work has shown that phthalates affect humans and animals similarly. In this paper, we review the possible mechanisms of phthalate-induced obesity, and discuss evidence supporting the role of phthalates in the development of obesity in humans.

Rationale Recurrence of Klinefelter syndrome (KS) in non-twin brothers is very rare. This study examined the inheritance pattern of supernumerary X chromosomes in non-twin brothers. Patient concerns A 16-year-old man presented with small-sized testicles. During his diagnostic work-up, his brother, in his late 20's, also complained of small testes and erectile dysfunction. Diagnosis Chromosome analysis in peripheral blood revealed non-mosaic 47,XXY karyotype in both brothers. Their mother showed a normal 46,XX karyotype. Interventions To examine the inheritance pattern of supernumerary X chromosomes, quantitative-fluorescence PCR was performed with small tandem repeat markers. It revealed that their supernumerary X chromosomes were inherited from different parents. Outcomes After the diagnosis of KS, 2 brothers started to receive testosterone treatment. Conclusion This case report is the first to report differences in the origins of supernumerary X chromosomes in brothers with KS and furthers the current understanding of the cytogenetic mechanisms in KS.

Relapsed herpes simplex virus (HSV) encephalitis after neurosurgery is a very rare condition. An 11-year-old boy suffered from relapsed HSV encephalitis five days after neurosurgery to remove the epileptogenic focus six years after prior HSV encephalitis. He was diagnosed with HSV encephalitis reactivation after positive HSV polymerase chain reaction results following a lumbar puncture, and this diagnosis was supported by consistent radiologic and histopathologic findings. Moreover, focal cortical dysplasia coexisted with inflammatory changes resulting from a viral infection based upon the removed brain tissue. This case may support the hypothesis that neurosurgery may be a triggering factor of HSV reactivation.

The number of patients with osteoporosis is increasing worldwide, and a decrease in bone mass is a main risk factor for fracture. The prevention of bone loss is critical for improving the quality of life for patients. However, the long-term use of antiosteoporotic agents is limited due to their side effects. Barley has been traditionally ingested for thousands of years as a safe, natural food with pharmaceutical properties, and its seedling can enhance the biological activity of the medicinal components found in food. This study aimed to clarify the antiresorptive activity of barley seedling and its mode of action. Barley seedling extracts (BSE) dose-dependently inhibited RANKL-induced osteoclast differentiation with alteration of IκB degradation, c-Fos, and NFATc1 molecules in the early-to-middle stages of osteoclastogenesis. In the late phase of osteoclastogenesis, BSE also prevented DC-STAMP and cathepsin K, which are required for cell fusion and bone degradation, such as osteoclast function. In conclusion, barley seedling from natural foods may provide long-term safety and be useful for the prevention or treatment of osteoclast-mediated bone metabolic diseases, including osteoporosis.

Objective To assess blood cadmium levels in Korean adolescents with respect to demographic and lifestyle factors. Methods We analyzed data from the Korea National Health and Nutrition Examination Survey from 2010 to 2013, totaling 1472 adolescents aged 10–18 years. Geometric means of blood cadmium were calculated using a complex samples general linear model to compare blood levels in different demographic and lifestyle groups. Multivariate logistic regression analyses were also used to find predictors for high blood cadmium (>90th percentile). Results The geometric mean of the blood cadmium concentrations was 0.30 μg/L in Korean adolescents. Older age, type of housing (multifamily house and commercial building), smoking and alcohol consumption, and iron deficiency/iron deficiency anemia (IDA) were significantly associated with higher blood cadmium concentrations (P

Summary Objective The gradual decrease in the age of onset of puberty raises concerns about the contribution of phytoestrogen intake on sexual maturation. However, no data are available on the association between serum isoflavone (genistein, daidzein) concentration and central precocious puberty (CPP). The aim of the study was to test the association between serum isoflavone concentrations and the risk of CPP in Korean girls. Study design A case-control study was conducted at Inje University Hospital in Korea. One-hundred and eight girls with CPP (aged 8·6 ± 0·8 year) and 91 age-matched controls (aged 8·5 ± 0·8 year) were examined. Results Serum concentrations of daidzein (P = 0·0202), genistein (P = 0·0021) and total isoflavones (P = 0·0009) were higher in children with CPP than in normal children. When the children were categorized into three groups according to total serum isoflavone as follows

Introduction: Neuroscientists are becoming interested in the application of computational EEG analysis to the identification of ictal onset zones; however, most studies have focused on the localization of ictal onset zones in focal epilepsy. The present study aimed to estimate the ictal onset zone of Lennox-Gastaut syndrome (LGS) with bilaterally synchronous epileptiform discharges from intracranial electroencephalography (iEEG) recordings using directional connectivity analysis. Methods: We analyzed ictal iEEG data acquired from three LGS patients who underwent epileptic surgery with favorable surgical outcomes. To identify the ictal onset zones, we estimated the functional directional connectivity network among the intracerebral electrodes using the directed transfer function (DTF) method. Results: The analysis results demonstrated that areas with high average outflow values corresponded well with the surgical resection areas identified using electrophysiologic data and conventional neuroimaging modalities. Discussions: Our results suggest that the DTF analysis can be a useful auxiliary tool for determining surgical resection areas prior to epilepsy surgery in LGS patients. This is the first research article demonstrating that directional connectivity analysis of iEEG recording data can be used for delineating surgical resection areas in generalized epilepsy patients who need surgical treatment.

Objective We assessed the associations of percentage fractions of urinary di(2-ethylhexyl) phthalate (DEHP) metabolites with obesity and insulin resistance in Korean girls. Methods In total, 137 girls, aged 6 to 13 years (65 overweight cases and 72 controls), were recruited. Anthropometric indices and the homeostatic model assessment of insulin resistance (HOMA-IR) index were determined. Four major urinary DEHP metabolites were analyzed in spot urine samples by gas chromatography-tandem mass spectrometry, including mono(2-ethylhexyl) phthalate, mono(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono(2-ethyl-5-oxohexyl) phthalate (MEOHP), and mono(2-ethyl-5-carboxypentyl) phthalate. Results There were no significant differences in the urinary concentrations of the DEHP metabolites between the overweight and control groups. The percentage fraction of MEHHP (MEHHP%) among all DEHP metabolites was significantly higher in the overweight prepubertal girls than in the controls (P = 0.035). MEHHP% was positively associated with the body mass index percentile, waist circumference, body fat percentage, and HOMA-IR index in the prepubertal girls. After adjusting for covariates, the prepubertal girls in a higher MEHHP% quartile were found to have a higher odds ratio for central obesity than those in a lower quartile (odds ratios: 5.05 for quartile 3; 7.30 for quartile 4). The relative rate of MEHHP oxidation to MEOHP was negatively associated with the body mass index percentile and waist circumference in the prepubertal girls. However, no such association was observed in the pubertal girls. Conclusions MEHHP% was positively associated with obesity and insulin resistance in prepubertal girls. Further studies are necessary to elucidate the causal links between altered phthalate metabolism and increased susceptibility to insulin resistance in children.

Purpose Obesity has been associated with higher total blood mercury levels, based on animal studies; however, studies that focus on children and adolescents are lacking. We aimed to assess the association between total blood mercury levels and the incidence of overweight and abdominal obesity in Korean adolescents. Methods The study population comprised 1,567 adolescents (793 boys and 774 girls; aged 10–19 years), who participated in the Korea National Health and Nutrition Examination Survey 2010–2013. We analyzed total blood mercury levels according to obesity status in all participants. Results The geometric mean of total blood mercury levels was 1.93 µg/L. Participants with overweight (2.20 µg/L) and obesity (2.17 µg/L) had higher levels than those with normal weight (1.86 µg/L, P

Unilateral sensorineural hearing loss (USNHL)/single-side deafness (SSD) is a frequently encountered disability in children. The etiology of a substantial portion of USNHL/SSD still remains unknown, and genetic causes have not been clearly elucidated. In this study, the authors evaluated the heritability of USNHL/SSD.The authors sequentially recruited 50 unrelated children with SSD. For an etiologic diagnosis, we performed a rigorous review on the phenotypes of family members of all children and conducted, if necessary, molecular genetic tests including targeted exome sequencing of 129 deafness genes.Among the 50 SSD children cohort, the authors identify 4 (8%) unrelated SSD probands from 4 families (SH136, SB173, SB177, and SB199) with another hearing impaired family members. Notably, all 4 probands in our cohort with a familial history of SSD also have pigmentary abnormalities such as brown freckles or premature gray hair within first degree relatives, which may indicate that genes whose products are involved with pigmentary disorder could be candidates for heritable SSD. Indeed, SH136 and SB199 turned out to segregate a mutation in MITF and PAX3, respectively, leading to a molecular diagnosis of Waardenburg syndrome (WS).We report, for the first time in the literature, a significant heritability of pediatric SSD. There is a strong association between the heritability of USNHL/SSD and the pigmentary abnormality, shedding a new light on the understanding of the molecular basis of heritable USNHL/SSD. In case of children with congenital SSD, it would be mandatory to rigorously screen pigmentary abnormalities. WS should also be included in the differential diagnosis of children with USNHL/SSD, especially in a familial form.

Precocious puberty (PP) refers to the appearance of physical and hormonal signs of pubertal development at an abnormally early age. Urinary steroid signatures obtained from 42 patients with central PP and 40 patients with peripheral PP were assessed to compare metabolic changes. Levels of androgens such as testosterone, androstenedione, androstenediol, 16α-hydroxy-dehydroepiandrosterone, and 5α-androstenedione tended to be high in both PP groups, and the level of 17β-estradiol was higher in the central-PP group (P

ObjectiveWe aimed to assess the prevalence and associated factors of vitamin D deficiency in healthy adolescents and to determine parent–adolescent association in vitamin D status.DesignA cross-sectional study.SettingData from the Korean National Health and Nutrition Examination Survey (KNHANES) 2008–2009. Serum 25-hydroxyvitamin D (25(OH)D) levels were measured using 125I-labelled RIA kits. Vitamin D deficiency in adolescents was defined as 25(OH)D level SubjectsThe study population consisted of 2062 adolescents (1095 boys, 967 girls; aged 10–18 years) and their parents (1005 fathers, 1341 mothers).ResultsOverall, 13·4 % of adolescents (boys 11·7 %, girls 15·4 %) were 25(OH)D deficient, 54·7 % were 25(OH)D insufficient. Prevalence of vitamin D deficiency increased with age (P < 0·0001). Parental vitamin D deficiency was more prevalent in vitamin D-deficient adolescents than in non-deficient adolescents (all P < 0·0001). In multivariate logistic regression analyses, predictors for vitamin D deficiency were senior high school students (OR = 3·45–4·33), winter/spring season (OR = 3·18–5·11/5·35–7·36) and parental vitamin D deficiency (OR = 1·78–4·88; all P < 0·05).ConclusionsVitamin D insufficiency is prevalent among healthy Korean adolescents and the parent–offspring association warrants vitamin D screening for family members of deficient individuals.

Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fi ngers. Hyperphalangy of the index and middle fi nger and shortening of the fi rst metacarpal can also be observed. BDC is a rare genetic condition associated with the GDF5 gene, and this condition has not been confi rmed by genetic analysis so far in the Korean population. Herein, we present a case of a 6-yr-old girl diagnosed with BDC confi rmed by molecular genetic analysis. The patient presented with shortening of the second and third digits of both hands. Sequence analysis of the GDF5 gene was performed and the pathogenic mutation, c.1312C>T (p.Arg438Cys), was identifi ed. Interestingly, this mutation was previously described in a patient who presented with the absence of the middle phalanges in the second through fi fth toes. However, our patient showed no involvement of the feet. Considering intrafamilial and interfamilial variability, molecular analysis of isolated brachydactyly is warranted to elucidate the genetic origin and establish a diagnosis.