• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.1
• /
• pp.48-53
• /
• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Clinical and Experimental Pediatrics
• /
• v.60 no.11
• /
• pp.359-364
• /
• 2017

Purpose: The risk of cardiovascular disease (CVD) has been shown to be associated with systemic inflammation in obese adults with metabolic syndrome (MetS). The aims of this study were to evaluate the prevalence of MetS and its relation to inflammatory markers in obese Thai children. Methods: A cross-sectional study was conducted. Children with history of endogenous obesity, chronic diseases, drug ingestion, and any acute illness within 2 weeks prior to enrollment were excluded. Their fasting blood glucose (FBG) levels, oral glucose tolerance tests, insulin, lipid profiles, and selected inflammatory markers, including interleukin-6, tumor necrosis factor-alpha, and high-sensitivity C-reactive protein (hs-CRP) levels, were tested. Results: In this study, 58 obese Thai children (female, 20; male, 38) with a mean body mass index z score of $5.1{\pm}2.2$ were enrolled. The prevalence of MetS and prediabetes was 31% and 17.2%, respectively. None of the children had diabetes. FBG levels, 2-hour glucose levels, and lipid profiles were not statistically different between those with and without MetS. However, obese children with MetS had higher insulin levels and homeostasis model assessment of insulin resistance values. Elevated hs-CRP levels were found in 69% of the cases, although it was not statistically different between the 2 groups. Conclusion: We described a substantial prevalence of MetS in Thai obese children. Regardless of MetS status, two-thirds of the obese children had elevated hs-CRP level, indicating subtle ongoing inflammatory process. This chronic inflammation feasibly predisposes them to CVD in the future, even in children without MetS.

• Korean Journal of Clinical Pharmacy
• /
• v.10 no.2
• /
• pp.51-56
• /
• 2000

Deflazacort, an oxazoline derivative of prednisolone, has been claimed to have anti-inflammatory effects with fewer side effects compared to prednisone. The objectives of the study were to evaluate efficacy and safety of deflazacort in children with nephrotic syndrome. Eligible Patients were the children with nephrotic syndrome who were treated with deflazacort from October. 1994 to April. 1999. Nephrotic syndrome was defined as having albumin level of less than 2.5 mg/dL and 24-hour urinary protein excretion of greater than $40\;mg/m^2/hr$. The primary parameters evaluating the efficacy of deflazacort were response rate, time to respond and relapse frequency. The safety profiles were the impact on children's growth, calcium sparing effect, glucose metabolism, lipid profile and adverse drug reactions. As results, total of 60 children were evaluated (47 boys, 13 girls). Response rate was $95\%$ (57/60) for initial and late responders. Median time to respond was 12 days (range 7-110 days) and median relapse frequency was one time (range 0-6). Weight/height ratio increased from $22.05\pm3.47\;to\23.20\pm3.44\;kg/m$ (p<0.001) and plasma calcium level, from $7.55\pm3.86\;to\;9.98\pm3.77\;mg/dL$ after treatment (p<0.001). Change of fasting glucose level was not statistically significant $(91.92\pm3.53\;vs.\;98.19\pm4.78\;mg/dL,\;p=0.072)$, while change of total cholesterol was significant $(362.3\pm12.0\;vs\;251.4\pm11.5\;mg/dL$, p<0.001). In conclusion, patients on deflazacort showed similar efficacy in treatment of nephrotic syndrome as reported for prednisone with less impact on growth inhibition and metabolic side effects of hyperglycemia and hyperlipidemia.

• Journal of Nutrition and Health
• /
• v.46 no.2
• /
• pp.156-165
• /
• 2013

This study examined how achievement of session goals contributes to outcomes of subjects after participation in a 12-week lifestyle intervention program in men with metabolic syndrome (MetS). Thirty office workers with MetS, aged $47.2{\pm}6.6$ years, participated in this study, from March to July, 2011. The intervention program included face-to-face counseling five times during the 12-week period. Counselors and subjects designed session goals for each round. The average of the goal achievement rate was calculated based on compliance for each round. The subjects were divided into three groups according to their tertiles of achievement rate: Low-compliance group (LC, < 59%), medium-compliance group (MC, 59-70%), and high-compliance group (HC, > 70%). Anthropometry, biochemical index, and nutrient intake were examined at baseline and at the end of the 12-week intervention program. After the intervention, diastolic blood pressure (DBP) showed a significant decrease in the LC group, and waist circumference (WC) showed a significant decrease in the MC group. Systolic blood pressure (SBP), DBP, and low-density lipoprotein cholesterol (LDL) showed a significant decrease in the HI group. Changes in SBP and DBP were significantly lower in the HC group than in the MC group (p < 0.05, p < 0.01). Changes in LDL were significantly lower in the HC group than in the MC group (p < 0.05). Results for intake of total energy, protein, fat, and sodium, as well as rates of carbohydrate and fat intake, showed a significant decrease in all participants (p < 0.05). The change in fiber was significantly higher in the HC group than in the MC group (p < 0.05). The change of fruit serving size showed a significant increase in the HC group (p < 0.01). The number of risk factors for MetS showed a significant decrease in the LC and HC groups (p < 0.05), however, no significant mean differences were observed among the three groups. In conclusion, participation in this intervention program resulted in positive effects on risk factors for MetS, nutrient intake, and dietary habits, especially in the High-compliance group.

• Journal of Genetic Medicine
• /
• v.18 no.1
• /
• pp.55-59
• /
• 2021

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

• Journal of Life Science
• /
• v.32 no.6
• /
• pp.476-481
• /
• 2022

Ubiquitin signaling regulates virtually all aspects of eukaryotic biology and dynamic processes in which protein substrates are modified by ubiquitin. To regulate these processes, deubiquitinating enzymes (DUBs) cleave ubiquitin or ubiquitin-like proteins from these substrates. DUBs have been implicated in the pathogenesis of cancer, leading to the development of increasing numbers of small-molecule DUB inhibitors. On the other hand, recent studies have focused on the function of DUBs in metabolic diseases such as obesity, diabetes, and fatty liver diseases. DUBs play a positive or negative role in the progression and development of metabolic diseases. Their involvement in cell pathology and regulation of major transcription factors in metabolic syndrome has been examined in vitro and in animal and human biopsies. UCH, USP7, and USP19 were linked to adipocyte differentiation, body weight gain, and insulin resistance in genetic or diet-induced obesity. CYLD, USP4, and USP18 were found to be closely associated with fatty liver diseases. In addition, these liver diseases were accompanied by body weight change in certain cases. Collectively, in this review, we discuss the current understanding of DUBs in metabolic diseases with a particular focus on obesity. We also provide basic knowledge and regulatory mechanisms of DUBs and suggest these enzymes as therapeutic targets for metabolic diseases.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.29 no.2
• /
• pp.237-242
• /
• 2002

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder involving eyes, kidney and nervous system, and occurs predominantly in mostly males. The patients with Lowe syndrome are characterized with prominent forehead, thin and sparse hair, protruding ears, congenital cataracts, glaucoma, mental retardation, stunted growth, hypotonia, decrease in muscle mass and tendon reflexes, renal tubular dysfunction, and metabolic bone disease. A 6-year-old boy with Lowe syndrome was admitted to our clinic, with multiple caries and a chief complaint of intermittent pain on the left mandibular molar area. Because of difficulty in management of behavior and his medical problem, general anesthesia was performed for dental care. No specific complication was noticed during dental treatment procedure under general anesthesia and also during periodic recall-checks. General anesthesia itself, however, could be a potentially life-threatening procedure due to patient's biomedical problems. When a dental procedure under general anesthesia is to be required in patient with Lowe syndrome, it may be advisable being teamed with physicians, and general anesthesia duration should be as short as possible.

• Fisheries and Aquatic Sciences
• /
• v.18 no.3
• /
• pp.333-339
• /
• 2015

Red lip mullet Chelon haematocheilus (body weight = $468{\pm}91g$) which became sick during an outbreak of disease at mariculture facilities at Cheonsu Bay, Korea, during July-August 2013, were examined to identify the cause of the disease. Diseased mullets displayed green liver syndrome, and Lactococcus garvieae were isolated from their internal organs. Argulus sp., Trichodina sp., and/or Vibrio spp. were also discovered in some infected fish. Histopathological examination revealed that fatty liver syndrome with hepatocyte degeneration, reflected in heterokaryons, inflammatory lesions, and melanomacrophage centers ($MMC_S$), had caused fibrosis around the kidney, spleen, and blood vessels. After the outbreak, visceral fat and green liver syndrome in the mullets were consistently observed throughout the year in the same mariculture facilities, indicating that the cultured mullets suffered a chronic metabolic disorder. Although Vibrio spp. were also isolated from some individuals, L. garvieae, which is known to be a causative agent of red lip mullet mortality, was isolated from all diseased individuals. This is the first report of L. garvieae infection in cultured red lip mullet.

• Nutrition Research and Practice
• /
• v.4 no.6
• /
• pp.492-498
• /
• 2010

Both metabolic syndrome (MetS) and elevated LDL cholesterol (LDL-C) increase the risk for cardiovascular disease (CVD). We hypothesized that low HDL cholesterol (HDL-C) would further increase CVD risk in women having both conditions. To assess this, we recruited 89 women with MetS (25-72 y) and LDL-C ${\geq}$ 2.6 mmol/L. To determine whether plasma HDL-C concentrations were associated with dietary components, circulating atherogenic particles, and other risk factors for CVD, we divided the subjects into two groups: high HDL-C (H-HDL) (${\geq}$ 1.3 mmol/L, n=32) and low HDL-C (L-HDL) (< 1.3 mmol/L, n=57). Plasma lipids, insulin, adiponectin, apolipoproteins, oxidized LDL, Lipoprotein(a), and lipoprotein size and subfractions were measured, and 3-d dietary records were used to assess macronutrient intake. Women with L-HDL had higher sugar intake and glycemic load (P< 0.05), higher plasma insulin (P< 0.01), lower adiponectin (P< 0.05), and higher numbers of atherogenic lipoproteins such as large VLDL (P < 0.01) and small LDL (P<0.001) than the H-HDL group. Women with L-HDL also had larger VLDL and both smaller LDL and HDL particle diameters (P<0.001). HDL-C was positively correlated with LDL size (r=0.691, P<0.0001) and HDL size (r=0.606, P<0.001), and inversely correlated with VLDL size (r=-0.327, P<0.01). We concluded that L-HDL could be used as a marker for increased numbers of circulating atherogenic lipoproteins as well as increased insulin resistance in women who are already at risk for CVD.

• The Journal of the Korea institute of electronic communication sciences
• /
• v.8 no.5
• /
• pp.779-784
• /
• 2013

This study aims to look into the relationship between the parents's family history of diabetes and factors of metabolic syndrome focusing on Korean adult males with a family history of diabetes. The data used for the study was collected from the 2010 Korea National Health and Nutrition Examination Survey. The subjects of the study totaled 2,045. For statistical analysis, double sampling general linear regression was used and the statistical significance was p<0.05. As a result of a multi-variate analysis with general characteristics corrected, the following was discovered: when fathers had a family history of diabetes, girth increased by 2.5cm, fasting blood sugar(glu) increased by 9.6mg/dL and neutral fat increased by 41.6mg/dL When the mothers had a family history of diabetes, girth increased by 2.4cm, fasting blood sugar(glu) increased by 15.4mg/dL, and the neutral fat increased by 27.2mg/dL. In conclusion, when the fathers had a family history of diabetes, their children's girth, fasting blood sugar and neutral fat were significantly higher, and when the mothers had a family history of diabetes, their children's girth and fasting blood sugar were significantly higher.