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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • 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.

Nutritional status and metabolic syndrome risk according to the dietary pattern of adult single-person household, based on the Korea National Health and Nutrition Examination Survey (국민건강영양조사 자료에 의한 식이 패턴별 1인 가구의 영양 상태와 대사증후군 위험도)

  • Keum, Yu Been;Yu, Qi Ming;Seo, Jung-Sook
    • Journal of Nutrition and Health
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    • v.54 no.1
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    • pp.23-38
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    • 2021
  • Purpose: This study was undertaken to evaluate the health, nutritional status and metabolic syndrome risk according to the dietary pattern of adult single-person households, using information obtained from the Korea National Health and Nutrition Examination Survey (KNHANES). Methods: Data were collected from the 2013-2016 KNHANES, of adults aged 19-64 years, belonging to single-person households. Based on cluster analysis, the dietary patterns of subjects were classified into three groups. The dietary behavior factors, health-related factors, nutritional status, and prevalence of metabolic syndrome obtained from KNHANES questionnaires were compared according to the individual dietary pattern. The nutrient intake data of the subjects were calculated using the semi-food frequency questionnaire. Moreover, blood and physical measurement data of the subjects were analyzed to obtain the prevalence of metabolic syndromes. Results: The major dietary intakes of subjects were classified as 'Rice and kimchi', 'Mixed', and 'Milk·dairy products and fruits' patterns. Characteristics of subjects based on their dietary pattern, gender, age, and education level were significantly different. The 'Milk and fruits' pattern showed low frequency of skipping breakfast and eating out, and had higher intake of dietary supplements. Frequency of alcohol intake and smoking rates were highest in the 'Mixed' pattern. Maximum nutrient intake of fat, vitamin A, riboflavin, vitamin C, niacin, calcium, phosphorus, and potassium was obtained in the 'Milk·dairy products and fruits' pattern. According to dietary patterns adjusted for age and gender, the risk of metabolic syndrome was 0.380 times lower in the 'Milk·dairy products and fruit' pattern than in the 'Rice and kimchi' pattern. However, when adjusted for other confounding factors, no significant difference was obtained between dietary patterns for metabolic syndrome risk. Conclusion: These results indicate that the health and nutritional status of a single-person household is possibly affected by the dietary intake of subjects.

Comparative Study on the Actual Conditions about Hypertension and Diabetes Case Management of the Elderly at the Hall for the Aged and the D Senior's College (D 노인대학과 경로당 노인들의 건강행태 및 고혈압당뇨병 관리실태 비교조사)

  • Yoon, Young-Suk;Kwon, Yang-Ok;Jung, Young-Hee
    • Journal of dental hygiene science
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    • v.10 no.1
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    • pp.17-24
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    • 2010
  • The purpose of this study was to provide the basic data for effective intervention of oral health behaviors strategy and to compare the actual conditions about hypertension and diabetes case management of the elderly at the hall for the aged and the D senior's college. The research method was a questionnaire including hypertension and diabetes case management of the elderly and the subjects were 174 of the elderly(65 age over) at the hall for the aged(100) and the senior's college(74). The results of this study were as follows; 1. Hypertension 1)The incidence of hypertension of elderly at the hall for the aged and the senior's college were 32.2%. 2)83.9% of the hypertension cases were initially diagnosed during hospital examination(p < 0.05). 3)Regular blood pressure checks were performed more than one time monthly on 76.8% of the cases(p < 0.05). 4)Blood pressure control was well controlled on 75%(p < 0.05). 5)85.7% of the elderly at the hall for the aged took hypertension drugs daily and 42.9% of the elderly at the senior's college took no drug alternatively(p < 0.05). 2. Diabetes 1)The incidence of the diabetes of elderly at the hall for the aged and the senior's college were 14.4%. 2)80.0% of the diabetes cases were initially diagnosed during hospital examination(p < 0.05). 3)64.0% of the cases did not have blood sugar measuring instrument(p < 0.05). 4. In the quality of life, the thinking of no difficulty in walking and no anxiety/depression was more presented on the elderly at the senior's college than those at the hall for the aged(p < 0.05). 5. The subjective health condition scores were higher on the elderly at the senior's college than those at the hall for the aged(p < 0.05).

Comparison of Property Changes of Black Jujube and Zizyphus jujube Extracts during Lactic Acid Fermentation (흑대추와 일반 건조대추의 추출 및 유산발효과정 중 특성 변화)

  • Auh, Mi Sun;Kim, Yi Seul;Ahn, Seung Joon;Ahn, Jun Bae;Kim, Kwang Yup
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.41 no.10
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    • pp.1346-1355
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    • 2012
  • This study was carried out to investigate the characteristics of black jujube and Zizyphus jujube extracts during lactic acid fermentation. Both extracts were fermented using Lactobacillus fermentum YL-3. As a result, viable cell number rapidly increased until 24 hours, after which it gradually decreased. Before lactic acid fermentation, the $IC_{50}$ of black jujube, which was 0.014 mg/mL, was lower than that of Zizyphus jujube. Further, black jujube showed stronger antioxidant activity (374.21 mg AA eq/g) than Zizyphus jujube. Contents of total polyphenolics in both extracts were 15.46 mg/g and 13.61 mg/g, respectively, whereas contents of total flavonoids were 374.21 ${\mu}g/g$ and 64.25 ${\mu}g/g$. After lactic acid fermentation, there was no significant increase in DPPH or ABTS free radical scavenging activity. Total polyphenolic content of Zizyphus jujube decreased to 12.39 mg/g upon fermentation, whereas flavonoid content significantly increased to 291.58 ${\mu}g/g$. Further, polyphenolic and flavonoid contents of black jujube increased from 15.46 mg/g to 17.46 mg/g and from 374.21 ${\mu}g/g$ to 1,135.29 ${\mu}g/g$, respectively. These results demonstrate that 9-Times Steamed and Dried increased functional components. Especially, lactic acid fermented black jujube showed remarkably high antioxidant activity. These results confirm the potential use of lactic acid fermented black jujube as a valuable resource for the development of functional foods.