• Journal of the Korean Society of Radiology
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• v.81 no.2
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• pp.302-309
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• 2020

Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A. Cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. Hence, the diagnosis of cardiac involvement is crucial for evaluating patient prognosis. Cardiac MRI is the standard technique for measuring the function, volume, and mass of the ventricles. It is also useful for myocardial tissue characterizations. The evaluation of native myocardial T1 values can facilitate early diagnosis of cardiac involvement, while measurements of left ventricular myocardial mass can be used to monitor treatment outcomes, in patients with Fabry disease. Consequently, cardiac MRI can provide useful information for diagnosing, monitoring, and treating patients with Fabry disease.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1153-1159
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• 2022

Dolichoectasia is an uncommon disorder characterized by the presence of a dilated, elongated, and tortuous cerebral artery. Its main pathologic mechanism is the disruption of the internal elastic lamina. Risk factors for dolichoectasia are advanced age, chronic hypertension, and metabolic disease. It mainly involves the vertebrobasilar vasculature (or "posterior circulation"), but dolichoectasia can also be seen in the anterior circulation, particularly the anterior cerebral artery. There are no reported cases of dolichoectasia involving both anterior and posterior circulation in South Korea. Here we report an unusual case of dolichoectasia involving both anterior and posterior circulation in a young female without any underlying disease on the basis of prominent imaging findings.

• Journal of Nutrition and Health
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• v.48 no.1
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• pp.46-57
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• 2015

Purpose: The aim of this study was to determine an appropriate energy level of breakfast with less risk of chronic disease for Korean adults. Methods: Using data from the 2007~2009 Korean National Health & Nutrition Examination Survey, from a total of 12,238 adults aged 19~64, the final 7,769 subjects were analyzed except subjects who were undergoing treatment for cancer or metabolic disorder. According to the percent of breakfast energy intake versus their estimated energy requirement (EER), the subjects were divided into four groups: < 10% (very low, VL), 10~20% (low, L), 20~30% (moderate, M), ${\geq}30%$ (sufficient, S). All data were analyzed on the metabolic risk and nutritional state after application of weighted value and adjustment of sex, age, residential area, income, education, job or jobless, and energy intake using a general linear model or logistic regression. Results: The subjects of group S were 16.9% of total subjects, group M 39.2%, group L 37.6%, and group VL 6.3%. The VL group included more male subjects, younger-aged (19 to 40 years), urban residents, higher income, higher education, and fewer breakfasts eaters together with family members. Among the 4 groups, the VL group showed the highest waist circumference, while the S group showed the lowest waist circumference, body mass index, and serum total cholesterol. The groups of VL and L with lower intake of breakfast energy showed high percent of energy from protein and fat, and low percent of energy from carbohydrate. With the increase of breakfast energy level, intake of energy, most nutrients and food groups increased, and the percentage of subjects consuming nutrients below EAR decreased. The VL group showed relatively higher intake of snacks, sugar, meat and eggs, oil, and seasonings, and the lowest intake of vegetable. Risk of obesity by waist circumference was highest in the VL group by 1.90 times of the S group and the same trend was shown in obesity by BMI. Risk of dyslipidemia by serum total cholesterol was 1.84 times higher in the VL group compared to the S group. Risk of diabetes by Glu-FBS (fasting blood sugar) was 1.57 times higher in the VL group compared to the S group. Conclusion: The results indicate that higher breakfast energy level is positively related to lower metabolic risk and more desirable nutritional state in Korean adults. Therefore, breakfast energy intake more than 30% of their own EER would be highly recommended for Korean adults.

• Journal of Animal Science and Technology
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• v.48 no.6
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• pp.839-846
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• 2006

This study was conducted to evaluate the effects of dietary addition of sucrose, propylene glycol and Tween 80 (Polysorbate 80 : Non-ionic Surfactants) on pre-partum (21 d) and post-partum (21 d) nutrients intake, blood metabolites, occurrence of metabolic disorders, milk yield and its composition in Holstein cows. Two basal diets were formulated each for pre- and post-partum period. The diets were mixed daily and fed at ad libitum to transitional cows. Forty cows of similar parity and milk yield were randomly divided into four groups (ten animals in each). The cows in three groups were supplemented either with 280g of sucrose/day (SU), SU+64g propylene glycol/day (SUP) or SUP+50g Tween80/day (SUPT). The feed for the fourth group was not supplemented and this group served as control (C). Pre-partum DM, total digestible nutrients (TDN), and crude protein (CP) intake was similar in cows fed C, SU, SUP, and SUPT diets. Post-partum DM, TDN, and CP intakes were the highest with SUPT diet followed by SU, SUP and control diets. Pre-partum blood non-esterified fatty acids (NEFA) concentration was noticed significantly higher in cows fed control diet compared to those fed SU, SUP and SUPT diets. The concentration of NEFA was similar at calving and during post-partum period across cows fed different experimental diets. Blood glucose and Ca concentration during pre- and post-partum periods were not significantly different in cows fed C, SU, SUP and SUPT diets. Milk yield (kg/day) was similar in cows fed different experimental diets. However, milk fat percent and 4% fat corrected milk yield were higher in cows fed SU diet (p<0.05) followed by SUP, SUPT and C diets. One case of ketosis was recorded in cows fed control diet however its occurrence was not observed in cows fed other diets. Occurrence of retained placenta and mastitis was numerically higher in cows fed control diet compared with those fed SU, SUP and SUPT diets. In conclusion, the NIS and propylene glycol feeding along with sucrose could improve the 4% fat corrected milk and fat yield in early lactating cows with significant reduction in NEFA and metabolic disorders during transitional period.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.1-8
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• 2015

Purpose: 3-methylcrotonyl CoA carboxylase deficiency (3MCCD) is leucine metabolic disorder caused by mutation in MCCC1 or MCCC2 gene. Clinical manifestations are variable, ranging from fatal neonatal onset to asymptomatic individuals. There is no retrospective study of Korean patients undergoing long-term treatment for 3MCCD. We reported this study to find out clinical symptoms and gene analysis of 3MCCD patients. Methods: This study was based on data of patients diagnosed with 3MCCD in Soonchunhyang university hospital between April 2009 and September 2013. We report clinical, enzymatic and mutation data of 3MCCD patients found by newborn screening. Results: In tandem mass spectrometry, 3-OH-isovalerylcarnitine (C5OH) of all patients increased. And all 7 patients were elevated 3-methylcrotonylglycine (3MCG) and 3-hydroxyisovaleric acid (3HIVA) in urine. MCCC mutation was identified in 2 patients and MCCC2 was mutated in 5 patients. We found mutation occurred in 8 different parts of nucleotide and such mutation caused 7 different types of changes in amino acid. All patients are on medication of L-carnitine and L-glycine. 4 patients are taking biotin. And 4 patients are eating leucine free formula. After starting treatment, there were no significant changes of urine 3MCG and 3HIVA levels. Conclusions: According to our data, MCCC2 gene mutation was more common than MCCC1 gene mutation. But the level of 3HIVA or 3MCG in urine has no correlation with phenotype. All patients has no symptoms and are shown normal development.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Korean Journal of Psychosomatic Medicine
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• v.18 no.1
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• pp.19-29
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• 2010

Objectives：Authors hypothesized that bipolar tendency of non-psychiatric person would be associated with stress vulnerability. To test the hypothesis, we compared perceived stress level, Type A Behavioral Pattern (TABP) and unhealthy lifestyle between person with and without bipolar tendency. Methods：The study cohort consisted of 1987 subjects without past and current psychiatric history. In this study, bipolar tendency was determined by MDQ response which requires endorsement of at least 7 of the 13 "yes or no" questions. We compared the scores of Perceived Stress Scale, A/B lifestyle questionnaire, and unhealthy lifestyle(alcohol, smoking, lack of exercise, irregular meal) between MDQ positive and negative respondents. Results：We identified the bipolar tendency group determined by the MDQ positive response were 329 subjects(16.6%). The overall score of the bipolar tendency group was significantly high on the A/B lifestyle questionnaire compared to the non-bipolar tendency group(125.4 vs. 115.9, p<0.001), and the rate of the subjects defined as TABP was also significantly high(41.3% vs. 30.1%, p<0.001). In comparison of subjectively perceived stress level, the bipolar tendency group was observed to be significantly higher than the non-bipolar tendency group (18.5% vs. 16.5%, p<0.001). The bipolar tendency group was significantly higher than the non-bipolar tendency group on the rate of answering：'irregular eating habit' (20.1% vs. 14.3%, p=0.002), '4-or-more-times alcohol intake per week' (29.8% vs. 16.5%, p<0.001), 'currently smoking' (41.9% vs. 23.0%, p<0.001), '2-or-less-times physical exercises per week' (63.2% vs. 55.1%, p=0.007). Conclusion：By clinical diagnosis, even a person who does not meet the criteria of bipolar disorder has a high risk of stress-related behavioral pattern, and perceived stress when possessing bipolar tendencies such as the (hypo) maniac tendency or affective instability. Such individual has significantly higher risk of having unhealthy life-style such as smoking, drinking, irregular eating habit and lack of exercise compared to non-bipolar tendency group. Since these risk factors lead to increase the risk of obesity, metabolic syndrome, diabetes, and cardiovascular diseases, the individual with the bipolar tendency requires a more effort to manage stress and to maintain healthy lifestyle.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• Journal of Life Science
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• v.28 no.7
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• pp.874-883
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• 2018

Osteoporosis is a disease that increases the risk of fracture by decreasing the mass and strength of bone. It is caused by imbalance of osteoclast bone formation and osteoclast bone resorption. Bone formation by osteoblast is activated via bone morphogenetic proteins and runt-related transcription factor 2. $Wnt/{\beta}-catenin$ signaling and bone resorption by osteoclast are initiated by the binding of receptor activator of nuclear $factor-{\kappa}B$ ligand and receptor activator of nuclear $factor-{\kappa}B$. Menopausal women are at risk for many diseases due to hormonal imbalances, and osteoporosis is the most common metabolic disorder in 30% of postmenopausal women. When estrogen is deficient, bone resorption of osteoclasts is promoted, and the risk of osteoporosis especially increases in postmenopausal women. Hormone replacement therapy has been widely used to relieve or treat the symptoms of menopausal syndrome. However, long-term administration of hormone therapy has been associated with a high risk of side effects, such as breast cancer, ovarian cancer, and uterine cancer. Recently, phytochemicals have been actively studied as a phytoestrogen, which has an estrogen-like activity to cope with symptoms of menopausal syndrome. Therefore, in this review, we investigated the differentiation mechanism of osteoblast and osteoclast and the role of estrogen and phytoestrogen in bone metabolism in relation to previous studies.