• Title/Summary/Keyword: vitamin %24D_3%24

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Idiopathic infantile hypercalcemia with severe nephrocalcinosis, associated with CYP24A1 mutations: a case report

  • Yoo, Jeesun;Kang, Hee Gyung;Ahn, Yo Han
    • Childhood Kidney Diseases
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    • v.26 no.1
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    • pp.63-67
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    • 2022
  • Nephrocalcinosis often occurs in infants and is caused by excessive calcium or vitamin D supplementation, neonatal primary hyperparathyroidism, and genetic disorders. Idiopathic infantile hypercalcemia (IIH), a rare cause of nephrocalcinosis, results from genetic defects in CYP24A1 or SLC34A1. Mutations in CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, disrupt active vitamin D degradation. IIH clinically manifests as failure to thrive and hypercalcemia within the first year of life and usually remits spontaneously. Herein, we present a case of IIH wih CYP24A1 mutations. An 11-month-old girl visited our hospital with incidental hypercalcemia. She showed failure to thrive, and her oral intake had decreased over time since the age of 6 months. Her initial serum parathyroid hormone level was low, 25-OH vitamin D and 1,25(OH)2 vitamin D levels were normal, and renal ultrasonography showed bilateral nephrocalcinosis. Whole-exome sequencing revealed compound heterozygous variants in CYP24A1 (NM_000782.4:c.376C>T [p.Pro126Ser] and c.1310C>A [p.Pro437His]). Although her hypercalcemia and poor oral intake spontaneously resolved in approximately 8 months, we suggested that her nephrocalcinosis and renal function be regularly checked in consideration of potential asymptomatic renal damage. Hypercalcemia caused by IIH should be suspected in infants with severe nephrocalcinosis, especially when presenting with failure to thrive.

Seasonal Differences in Outdoor Activity Time and Serum 25-(OH) Vitamin D Status of Korean Young Women (젊은 여성의 계절별 옥외활동시간과 혈청 25-(OH) 비타민 D 영양상태)

  • Yoon, Jin-Sook;Song, Min-Kyoung
    • Korean Journal of Community Nutrition
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    • v.19 no.3
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    • pp.231-240
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    • 2014
  • Objectives: This study was intended to examine the seasonal differences in outdoor activity times and dietary vitamin D intakes, and explicates their relative impact on improving serum 25-(OH) vitamin D status among Korean young women. Methods: A cross-sectional study was conducted with 135 free-living women aged 19-39 years in Daegu-Kyungbook, Korea. We compared the results from 52 women for the summer and 83 women for the winter. Dietary intake of vitamin D was assessed by 24 hour recall method for non-consecutive three days as well as by food frequency method. Daily outdoor activity times were derived from 24 hour physical activity diary. Results: The average dietary intake of vitamin D of the participants by 24 hour recall method was 3.1 ${\mu}g$ during the summer, 3.3 ${\mu}g$ during the winter, showing no significant difference between the two seasons. Times spent on outdoor activities (p < 0.01) in the summer (= $23.8{\pm}23.6$ min) were much longer than that in the winter (= $10.8{\pm}13.4$ min). The serum 25-(OH) vitamin D levels of participants were $17.5{\pm}7.5$ ng/mL in the summer and $13.4{\pm}4.3$ ng/mL in the winter, showing that the latter was significantly lower than that of the former (p<0.001). The serum 25-(OH) vitamin D levels of subjects were positively related to outdoor activities (r=0.315, p<0.05) during the summer, while related to dietary intake (r=0.252, p<0.05) during the winter. Conclusions: In order to improve the current vitamin D status of Korean young women, nutrition education programs should focus on increasing more dietary intake especially during the winter, and performing more outdoor activities in other seasons.

Efficacy and safety of vitamin D3 B.O.N intramuscular injection in Korean adults with vitamin D deficiency

  • Choi, Han Seok;Chung, Yoon-Sok;Choi, Yong Jun;Seo, Da Hea;Lim, Sung-Kil
    • Osteoporosis and Sarcopenia
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    • v.2 no.4
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    • pp.228-237
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    • 2016
  • Objective: There has been no prospective study that examined intramuscular injection of high-dose vitamin D in Korean adults. The aim of this study was to assess the efficacy and safety of high-dose vitamin $D_3$ after intramuscular injection in Korean adults with vitamin D deficiency. Method: This study was a 24-week, prospective, multicenter, randomized, double-blind, placebo-controlled trial. A total of 84 subjects ${\geq}19$ and <65 years of age were randomly allocated to either the vitamin $D_3$ or placebo group in a 2:1 ratio. After randomization, a single injection of plain vitamin $D_3$ 200,000 IU or placebo was intramuscularly administered. If serum 25-hydroxyvitamin D (25[OH]D) concentrations were <30 ng/mLon week 12 or thereafter, a repeat injection was administered. Results: After a single intramuscular injection of vitamin $D_3$ to adults with vitamin D deficiency, the proportion of subjects with serum 25(OH)D concentrations ${\geq}30ng/mL$ within 12 weeks was 46.4% in the vitamin $D_3$ group and 3.6% in the placebo group (p<0.0001). The proportion of subjects with serum 25(OH)D concentrations ${\geq}30ng/mL$ within 24 weeks was 73.2% in the vitamin $D_3$ group and 3.6% in the placebo group (p<0.0001). Mean change in serum 25(OH)D concentrations at weeks 12 and 24 after vitamin $D_3$ injection was $12.8{\pm}8.1$ and $21.5{\pm}8.1ng/mL$, respectively, in the vitamin $D_3$ group, with no significant changes in the placebo group. Serum parathyroid hormone concentrations showed a significant decrease in the vitamin $D_3$ group but no change in the placebo group. Conclusion: Intramuscular injection of vitamin $D_3$ 200,000 IU was superior to placebo in terms of its impact on serum 25(OH)D concentrations, and is considered to be safe and effective in Korean adults with vitamin D deficiency.

Vitamin D Status in South Korean Military Personnel with Acute Eosinophilic Pneumonia: A Pilot Study

  • Jhun, Byung Woo;Kim, Se Jin;Kim, Kang;Lee, Ji Eun;Hong, Duck Jin
    • Tuberculosis and Respiratory Diseases
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    • v.78 no.3
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    • pp.232-238
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    • 2015
  • Background: A relationship between low vitamin D levels and the development or outcomes of respiratory diseases has been identified. However, there is no data on the vitamin D status in patients with acute eosinophilic pneumonia (AEP). We evaluated the vitamin D status in patients with AEP among South Korean military personnel. Methods: We prospectively compared the serum levels of total 25-hydroxyvitamin D [25(OH)D], 25(OH)D3, and 25(OH)D2 among patients with AEP, pulmonary tuberculosis (PTB), and community-acquired pneumonia (CAP). Results: In total, 65 patients with respiratory diseases, including AEP (n=24), PTB (n=19), and CAP (n=22), were identified. Of the 24 patients with AEP, 2 (8%) had deficient total 25(OH)D levels (<10 ng/mL), 17 (71%) had insufficient total 25(OH)D levels (${\geq}10$ to <30 ng/mL), and only 5 (21%) had sufficient total 25(OH)D levels (${\geq}30$ to <100 ng/mL). The difference in the total 25(OH)D levels among patients with AEP, PTB, and CAP was not statistically significant (p=0.230). The median levels of total 25(OH)D, 25(OH)D3, and 25(OH)D2 were 22.84, 22.84, and 0.00 ng/mL, respectively, and no differences in the 25(OH)D level were present among patients with AEP, PTB, and CAP with the exception of the total 25(OH)D level between patients with AEP and PTB (p=0.042). Conclusion: We have shown that low vitamin D levels are frequently found in patients with AEP and are comparable with those in patients with PTB and CAP.

Subclinical Vitamin D Insufficiency in Korean School-aged Children

  • Han, Sang Woo;Kang, Ha Ra;Kim, Han Gyum;Kim, Joo Hyun;Uhm, Ji Hyun;Seo, Ji Young
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.16 no.4
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    • pp.254-260
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    • 2013
  • Purpose: Recently, vitamin D insufficiency has increased and has been correlated to growth and puberty in children. This study was conducted to find the prevalence of subclinical vitamin D insufficiency and its influence on school-aged children in Korea. Methods: The subjects of this study were 397 children aged 7 to 15 years who had been tested for 25-OH vitamin D3 among the outpatients of the Department of Pediatrics in Eulji General Hospital from March 2007 to February 2011. Data for age, sex, comorbidities, serum 25-OH vitamin D3, height, weight, body mass index (BMI), and sunlight exposure time were collected before and after 3 months of vitamin D administration, retrospectively. Results: Vitamin D insufficiency was present in 343 (86%) of the subjects. In the vitamin D insufficient group, chronological age was $8.96{\pm}1.72$ years, mean height (z-score [z]) was $0.51{\pm}1.26$, mean BMI (z) was $0.81{\pm}2.20$, and bone age was $10.26{\pm}1.75$ years. In the vitamin D sufficient group, chronological age was $9.61{\pm}1.77$ years, mean height (z) was -$0.66{\pm}0.98$, mean BMI (z) was -$0.01{\pm}1.16$, and bone age was $9.44{\pm}2.12$ years. A paired t-test showed that three months after vitamin D administration, the mean 25-OH vitamin D3 level in the insufficient group increased to $24.38{\pm}10.03$ ng/mL and mean BMI (z) decreased to $0.67{\pm}1.06$. Conclusion: In Korean school-aged children, vitamin D insufficiency were relatively higher and may be closely related with higher BMI. Insufficient rise of the level of vitamin D after supplementation suggest the new supplementation guidelines, especially for Korean children.

Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

  • Bak, Na Ry;Song, Eun Song;Yang, Eun Mi;Kim, Chan Jong
    • Childhood Kidney Diseases
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    • v.23 no.2
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    • pp.111-115
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    • 2019
  • Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

Effect of Restriction of Vitamin A and D on Carcass Characteristics in Hanwoo Steers (비타민 A와 D의 공급제한이 거세 한우의 육질등급에 미치는 영향)

  • Kim, W.Y.;Park, J.K.;Cho, S.Y.;Nam, K.T.;Yeo, J.M.
    • Journal of Practical Agriculture & Fisheries Research
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    • v.18 no.1
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    • pp.13-24
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    • 2016
  • Sixty Hanwoo steers(15 months of age; 409±29.2 kg of BW) were used to evaluate the effects of dietary vitamins A and D restriction on carcass characteristics. Steers were allotted randomly to 1 of 4 treatments: Control(diet supplemented with vitamins A, D and E), -A (diet supplemented with vitamins D and E), -D(diet supplemented with vitamins A and E) and -AD(diet supplemented with vitamin E only). Steers were fed the experimental diet for a period of 8 months(until 23 months of age), and then supplemented with vitamins A and D at 0.05% of the diet(as fed-basis) from 24 to 26 months of age, and at 0.1% of the diet from 27 to 31 months of age(harvesting time). Dietary restriction of vitamins A and D did not affect DM intake, daily gain and feed conversion ratio. But the concentration of serum retinol was significantly(P<0.05) decreased by vitamin A restriction with the lowest concentration being seen at 23 months of age(345.0 ㎍/L and 326.7㎍/L for control and -D treatment versus 169.3 ㎍/L and 175.4 ㎍/L for -A and -AD treatments). The serum concentration of 25(OH)D3 was also decreased significantly(P<0.05) by vitamin D restriction and the lowest concentration was seen at 18 months of age(53.7ng/ml and 61.8ng/ml for control and - A treatment versus 24.0 ng/ml and 24.5 ng/ml for -D and -AD treatments). After the restriction period of vitamins A and D, the concentrations of retinol and 25(OH)D3 for - A, -D and -AD treatments were recovered at those of control. Dietary restriction of vitamins A and D did not affect carcass weight, backfat thickness, ribeye area, quality grade and yield grade. But marbling score was significantly increased by vitamin A restriction compared with control(6.73, 6.87 and 5.73 for -A, -AD and control, respectively). The results of the present study suggested that dietary vitamin A restriction could improve marbling score in Hanwoo steers.

Vitamin D intake, Outdoor Activity Time and Serum 25-OH Vitamin D Concentrations of Korean Postmenopausal Women by Season and by Age (폐경 여성의 비타민 D 섭취량, 옥외활동시간, 혈청 25-OH 비타민 D 수준과 계절 및 연령과의 관련성)

  • Yoon, Jin-Sook;Song, Min-Kyoung
    • Korean Journal of Community Nutrition
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    • v.20 no.2
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    • pp.120-128
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    • 2015
  • Objectives: The purpose of this study was to examine the relative impact of seasonal differences and age on dietary vitamin D intakes, outdoor activity time and serum vitamin D status among Korean postmenopausal women. Methods: A cross-sectional study was conducted with 164 free-living postmenopausal women (mean age=55.4 years) in Daegu, Korea. Dietary intake, daily physical activity patterns and fasting blood samples were collected during summer and winter. We compared the results from 75 women during summer and 89 women during winter. Dietary intake of vitamin D was assessed by 24-hour recall method. Daily outdoor activity time was derived from physical activity diary. Results: The average dietary intake of vitamin D of the participants was $3.7{\mu}g$ during summer, $3.3{\mu}g$ during winter, showing no significant difference between the two seasons. The average time spent on outdoor activities was not significantly different between summer ($=35.1{\pm}75.0min/d$) and winter ($=48.5{\pm}76.8min/d$). The average serum 25-(OH) vitamin D concentrations of participants was $17.5{\pm}7.5ng/mL$ in the summer and $13.4{\pm}4.3ng/mL$ in the winter, showing no significant differences by season. Dietary intake of vitamin D was not related to age. When total subjects were divided into two groups by age, the average serum 25-(OH) vitamin D concentration was significantly higher in older group (p=0.047) and time spent on outdoor activities was also (p=0.018) significantly higher in the older group. Conclusions: In order to improve the current vitamin D status of Korean postmenopausal women, nutrition education programs should focus more on adequate intake of vitamin D, while maintaining enough outdoor activities over the season.

Dietary Life, Vitamin D Status and Blood Clinical Indices of University Laboratory Workers (대학 연구활동종사자의 식생활실태, 비타민 D 영양상태 및 혈액 임상지표 분석)

  • Hwang, Jung Hyun;Lee, Hong Mie;Kim, Jung Hee
    • Korean Journal of Community Nutrition
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    • v.24 no.3
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    • pp.245-256
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    • 2019
  • Objectives: Although the number of laboratory workers is constantly increasing every year, few studies have been conducted on the health and nutritional status of these research workers. This study determined the health status of laboratory workers by analyzing their anthropometric indices, dietary life, vitamin D status and blood clinical indices. Methods: The subjects consisted of 100 female laboratory workers. This study investigated their diet, anthropometric indices, vitamin D status and blood clinical indices. The subjects were divided into two groups according to their duration of working in a laboratory (<1 year, $${\geq}_-1year$$). Results: The average age and body mass index (BMI) of subjects were 23.18 years and $21.51kg/m^2$, respectively Those subjects with over 1 year employment ($${\geq}_-1year$$) had a significantly higher waist-hip ratio than that of the subjects with the less than 1 year employment (<1 year). The mean serum vitamin D level of all the subjects was 10.04 ng/mL, which is close to a level of vitamin D deficiency. There was a significantly higher average intake of calories in the over 1 year employment group as compared to that of the less than 1 year employment group. The frequency of eating sweet snacks was significantly higher for the over 1 year employment group. The correlation analysis showed a significant positive correlation between the serum 25-(OH)-vitamin D level and the time of exposure to sunlight, while dietary intake of vitamin D did not show correlation with the serum 25-(OH)-vitamin D level. However, the serum 25-(OH)-vitamin D level was also negatively correlated with both the percentage of body fat and visceral fat. Conclusions: Laboratory workers are a very high risk group in terms of their nutritional status of vitamin D. Therefore, they need greater time of exposure to sunlight as well as increasing their dietary consumption of vitamin D. In addition, it is important for laboratory worker to practice regular and balanced dietary habits in order to maintain a healthy life.

Effects of cord blood vitamin D levels on the risk of neonatal sepsis in premature infants

  • Say, Birgul;Uras, Nurdan;Sahin, Suzan;Degirmencioglu, Halil;Oguz, Serife Suna;Canpolat, Fuat Emre
    • Clinical and Experimental Pediatrics
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    • v.60 no.8
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    • pp.248-253
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    • 2017
  • Purpose: Vitamin D plays a key role in immune function. Vitamin D deficiency may play a role in the pathogenesis of infections, and low levels of circulating vitamin D are strongly associated with infectious diseases. In this study, we aimed to evaluate the effects of low vitamin D levels in cord blood on neonatal sepsis in preterm infants. Methods: One hundred seventeen premature infants with gestational age of <37 weeks were enrolled. In the present study, severe vitamin D deficiency (group 1) was defined as a 25-hydroxyvitamin D (25(OH)D) concentration <5 ng/mL; vitamin D insufficiency (group 2), 25(OH)D concentration ${\geq}5ng/mL$ and <15 ng/mL; and vitamin D sufficiency (group 3), 25(OH)D concentration ${\geq}15ng/mL$. Results: Sixty-three percent of the infants had deficient levels of cord blood vitamin D (group 1), 24% had insufficient levels (group 2), and 13% were found to have sufficient levels (group 3). The rate of neonatal sepsis was higher in group 2 than in groups 1 and 3. Conclusion: There was no significant relationship between the cord blood vitamin D levels and the risk of neonatal sepsis in premature infants.