• Title/Summary/Keyword: Vitamin D $(25(OH)D_3$)

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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.

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.

UVB Photosynthesis of Vit, D3 and Fabrics (Part ll) - The animal study - (자외선에 의한 비타민 $D_3$ 합성과 직물(제2보) -동물 실험을 통하여 -)

  • Kim, Jeong-Hyeon;An, Ryeong-Mi;Song, Myeong-Gyeon
    • Journal of the Korean Society of Clothing and Textiles
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    • v.22 no.5
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    • pp.646-653
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    • 1998
  • Because there is a great concern' today about the damaging effect of chronic exposure to sunlight the use of sunscreen providing the photoprotection effect against ultraviolet (UV) was widely increased. As a result of common use of level of photosynthetic Vit. D3 in human skin decreased these days. In our experiment the animals covered with fabrics with 50% (fabric B) and 100% (fabric A) protection rate against ultraviolet B (UVB) were used to measure serum 25(OH)D3, ALP, total clacium and phosphorus. Vitamin D deficiency diet group had no effect on concentration of serum phosphorus. But the concentrations of serum 25(OH)D9 and total calcium were more decreased in vitamin D deficiency diet rats than in normal diet rats. Alkaline phosphatase activity in sunlight irradiated groups covered with 50% (fabric B) and 100% (fabric A) WB protection fabrics was more significantly decreased than vitamin D deficiency diet group. In conclusion, sunlight irradiateted groups were compared to effective to protect born disease due to the Vit. D deficeincy group.

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A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney (일측성 신장 무형성을 동반한 제 1형 비타민 D 의존성 구룻병 1례)

  • Lim, Dong-Hee;Jung, Ji-In;Yim, Hyung-Eun;Eun, Baik-Lin;Yoo, Kee-Hwan;Hong, Young-Sook;Lee, Joo-Won
    • Childhood Kidney Diseases
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    • v.12 no.1
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    • pp.111-115
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    • 2008
  • Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1${\alpha}$-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-$(OH)_2D3$. Type II VDDR arise from target organ resistance to 1,25-$(OH)_2D3$. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.

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Relationship between serum 25-hydroxyvitamin D and chronic obstructive pulmonary disease in males in the fifth Korean national health and nutrition examination survey (제5기 국민건강영양조사 자료 중 남성에서 혈청 중 25-hydroxyvitamin D와 만성폐쇄성폐질환의 상관관계)

  • Jung, In Kyung
    • Journal of Nutrition and Health
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    • v.47 no.5
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    • pp.321-329
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    • 2014
  • Purpose: The aim of this study was to determine the relationship between serum concentrations of 25-hydroxyvitamin D [25(OH)D] and chronic obstructive pulmonary disease (COPD) prevalence. Methods: The analysis was performed using data from the Fifth Korean National Health and Nutrition Examination Survey, a cross-sectional survey of the Korean civilian population conducted from 2010 to 2012. The analyses were restricted to males who were 40 years of age and above. Complex sample multiple logistic regression analyses were used to examine the associations of COPD prevalence with 25(OH)D and other factors. Results: $FEV_1/FEV_6$ varied significantly with smoking status, age, household income, education level, occupation, body mass index (BMI), and physical activity (p < 0.05). In univariate analysis, smoking status, BMI, household income, education level, and occupation showed association with COPD (p < 0.05), but vitamin D was not associated with COPD (p = 0.078). However, when adjusted with smoking status, household income, education level, occupation, BMI, age, and smoking index, the lowest quartile of 25(OH)D showed OR 1.643 (95% CI 1.161-2.236) compared to 3rd quartile (p = 0.024). Conclusion: A significant relationship was observed between serum concentration of 25(OH)D and COPD.

1, 25(OH)$_2$-23ene-$D_3$ : Effects on Proliferation and Differentiation of U937 Cells in vitro and on Clcium Metabolism of Rat in vivo (1, 25(OH)$_2$-23ene-$D_3$ : in vitro에서 U937 세포의 증식과 분화 및 in vivo에서 쥐의 칼슘대사에 미치는 영향)

  • 정수자;서명자
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.24 no.1
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    • pp.1-9
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    • 1995
  • 1, 25(OH)2-23ene-D3 is a novel vitamine D3 analog which has a double bond between C-23 and C-24. We describe the effects of this analog on cell differentiation and cell proliferation in vitro using the human histiocytic lymphoma cell line U937, and on calcium metabolism in rats in vivo. In the present investigation 1, 25(OH)2-23ene-D3 was compared to the natural metabolite of vitamin D3, 1$\alpha$, 25-dihydroxycholecalciferol[1, 25(OH)2-23ene-D3 was more potent than 1, 25(OH)2-23ene-D3 for inhibition of proliferation and induction of differentiation of U937 cells. Especially, its effect on induction of differentiation, as measured by superoxide production and nonspecific esterase(NSE) activity, was about 20-fold more potent that 1, 25(OH)2-23ene-D3. This analog morphologically and functionally differentiated U937 cells to monocyte-macrophage phenotype showing a decrease of N/C ratio in Giemsa staining and the increase of adherence ability to surface. Intraperitoneal administration of 1, 25(OH)2-23ene-D3 to rats showed that the compound had at least 50 times less activity than 1, 25(OH)2-23ene-D3 in causing hypercalcemia and hypercalciuria. The strong direct effects of 1, 25(OH)2-23ene-D3 on cell proliferation and cell differentiation, coupled with its decreased activity of calcium metabolism make this compound an interesting candidate for clinical studies including patients with leukemia, as well as several skin disorders, such as psoriasis.

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1,25-dihydroxyvitamin D3 affects thapsigargin-induced endoplasmic reticulum stress in 3T3-L1 adipocytes

  • Dain Wi;Chan Yoon Park
    • Nutrition Research and Practice
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    • v.18 no.1
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    • pp.1-18
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    • 2024
  • BACKGROUND/OBJECTIVES: Endoplasmic reticulum (ER) stress in adipose tissue causes an inflammatory response and leads to metabolic diseases. However, the association between vitamin D and adipose ER stress remains poorly understood. In this study, we investigated whether 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) alleviates ER stress in adipocytes. MATERIALS/METHODS: 3T3-L1 cells were treated with different concentrations (i.e., 10-100 nM) of 1,25(OH)2D3 after or during differentiation (i.e., on day 0-7, 3-7, or 7). They were then incubated with thapsigargin (TG, 500 nM) for an additional 24 h to induce ER stress. Next, we measured the mRNA and protein levels of genes involved in unfold protein response (UPR) and adipogenesis using real-time polymerase chain reaction and western blotting and quantified the secreted protein levels of pro-inflammatory cytokines. Finally, the mRNA levels of UPR pathway genes were measured in adipocytes transfected with siRNA-targeting Vdr. RESULTS: Treatment with 1,25(OH)2D3 during various stages of adipocyte differentiation significantly inhibited ER stress induced by TG. In fully differentiated 3T3-L1 adipocytes, 1,25(OH)2D3 treatment suppressed mRNA levels of Ddit3, sXbp1, and Atf4 and decreased the secretion of monocyte chemoattractant protein-1, interleukin-6, and tumor necrosis factor-α. However, downregulation of the mRNA levels of Ddit3, sXbp1, and Atf4 following 1,25(OH)2D3 administration was not observed in Vdr-knockdown adipocytes. In addition, exposure of 3T3-L1 preadipocytes to 1,25(OH)2D3 inhibited transcription of Ddit3, sXbp1, Atf4, Bip, and Atf6 and reduced the p-alpha subunit of translation initiation factor 2 (eIF2α)/eIF2α and p-protein kinase RNA-like ER kinase (PERK)/PERK protein ratios. Furthermore, 1,25(OH)2D3 treatment before adipocyte differentiation reduced adipogenesis and the mRNA levels of adipogenic genes. CONCLUSIONS: Our data suggest that 1,25(OH)2D3 prevents TG-induced ER stress and inflammatory responses in mature adipocytes by downregulating UPR signaling via binding with Vdr. In addition, the inhibition of adipogenesis by vitamin D may contribute to the reduction of ER stress in adipocytes.

Vitamin D status and its association with cardiometabolic risk factors in Korean adults based on a 2008-2010 Korean National Health and Nutrition Examination Survey

  • Chung, Ji-Youn;Hong, Sung-Ho
    • Nutrition Research and Practice
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    • v.7 no.6
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    • pp.495-502
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    • 2013
  • Recent studies suggest that vitamin D deficiency and cardiometabolic disorders are becoming increasingly more prevalent across multiple populations. However, there is a lack of comprehensive data for Korean adults. We investigated the vitamin D status, the prevalence of vitamin D deficiency and its association with metabolic syndrome (MS) risk in Korean adults aged 20 years or older. The study subjects (n = 18,305) were individuals who participated in the Korean National Health Examination and Nutrition Survey (KNHANES) in 2008-2010. Vitamin D status (25-hydroxyvitamin D [25(OH)D]) was categorized as < 20, 21-29, and ${\geq}$ 30 ng/mL, which are the cut-off points for deficiency, insufficiency and normal limits. A wide variety of cardiometabolic risk factors were compared according to the vitamin D status. Vitamin D deficiency was found in 53.9% of men and 70.5% of women. Mean BMI, systolic BP, HbA1c and low density lipoprotein cholesterol (LDL-C) were highest in the vitamin D deficiency group in both genders. Further, the MS was most prevalent in the vitamin D deficiency group in both genders (12.3%, P = 0.002 in men and 9.2%, P < 0.001 in women). Compared to the vitamin D normal group, the adjusted odds ratio (ORs) (95% confidence interval [95% CI]) for MS in the vitamin D deficiency group were 1.46 (1.05-2.02) in men and 1.60 (1.21-2.11) in women, after adjusting for confounding variables. In conclusion, Vitamin D deficiency is a very common health problem in Korean adults and is independently associated with the increasing risk of MS.

Low serum 25-hydroxyvitamin D levels, tooth loss, and the prevalence of severe periodontitis in Koreans aged 50 years and older

  • Kim, Hyunju;Shin, Min-Ho;Yoon, Suk-Ja;Kweon, Sun-Seog;Lee, Young-Hoon;Choi, Chang-Kyun;Kim, OkJoon;Kim, Young-Joon;Chung, HyunJu;Kim, Ok-Su
    • Journal of Periodontal and Implant Science
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    • v.50 no.6
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    • pp.368-378
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    • 2020
  • Purpose: Vitamin D deficiency may cause bone loss and increased inflammation, which are well-known symptoms of periodontal disease. This study investigated whether serum 25-hydroxyvitamin D (25(OH)D) levels are associated with periodontal disease status and tooth loss. Methods: Cross-sectional data from 5,405 individuals aged ≥50 years (2,253 males and 3,152 females) were obtained from the 2008-2010 Dong-gu study, a prospective cohort study of risk factors for chronic diseases. Periodontal examinations were conducted to evaluate the number of remaining teeth, the periodontal probing depth (PPD), the clinical attachment level (CAL), and bleeding on probing. The percentages of sites with PPD ≥4 mm and CAL ≥4 mm were recorded for each participant. The severity of periodontitis was classified using the Centers for Disease Control and Prevention and the American Academy of Periodontology case definitions. Serum 25(OH)D levels were classified as reflecting severe deficiency, deficiency, insufficiency, or sufficiency. Multivariate linear regression analysis was performed to assess the associations of serum 25(OH)D levels with periodontal parameters and the number of remaining teeth after adjusting for confounders including age, smoking status, alcohol consumption status, month of blood collection, and physical activity. Multivariate logistic regression was used to evaluate the association between serum vitamin D levels and severe periodontitis. An overall statistical analysis and a stratified analysis by sex were performed. Results: Overall, the rates of severe deficiency, deficiency, insufficiency, and sufficiency were 6.5%, 67.9%, 22.4%, and 3.2%, respectively. After adjustment for confounders, vitamin D levels were directly associated with the number of remaining teeth, an association that was significant in males, but not in females. Sufficient serum 25(OH)D was associated with a low frequency of severe periodontitis. Conclusions: This population-based cross-sectional study indicates that low serum 25(OH) D is significantly associated with tooth loss and severe periodontitis in Koreans aged 50 years and older.

Hypocalcemic Convulsion in Formula Feeding Young Infants (영아에서 경련을 동반한 저칼슘혈증에 관한 연구)

  • Kim Mi-Jung;Ko Cheol-Woo;Koo Ja-Hoon
    • Childhood Kidney Diseases
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    • v.2 no.1
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    • pp.14-19
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    • 1998
  • Purpose : Hypocalcemia is one of the major causes of convulsion in infants. The causes of hypocalcemia are hypoparathyroidism, deficiency and metabolic abnormalities of vitamin D, or increased uptake of inorganic phosphorous, etc. We analyzed the causes, symptoms and signs, treatment, and clinical courses of hypocalcemia as, recently, there were many clinical experiences of hypocalcemic infants under age of 6 months in the department of pediatrics, Kyungpook University Hospital. Objects and Methods : The authors observed 11 infants with hypocalcemia who had been admitted to the department of pediatrics, Kyungpook University Hospital, during the period of February 1992 to April 1997. Various clinical and laboratory data concerning causes, clinical courses and treatment of hypocalcemia were analyzed retrospectively Results : (1) The sex incidence revealed male predominance with male to female ratio 4.5 : 1. The mean age at onset of symptoms was $2.2{\pm}1.1$ months old. (2) The causes of hypocalcemia were vitamin D deficiency in 8 cases and excessive inorganic phosphate intake in 3 cases. (3) All eleven patients manifestated convulsion which was generalized tonic-clonic in 9, and focal clonic in 2 cases. (4) Serum calcium concentrarion increased from $6.3{\pm}0.9$ mg/dL to $9.9{\pm}1.7$ mg/dL after therapy of $1,25(OH)_{2}D_{3}$ with or without calcium(P=0.0008), and serum ALP concentration decreased from $1,418{\pm}864$ U/L to $772{\pm}503$ U/L (P=0.0112). Serum iPTH levels were high in all 11 patients initially. All showed decreased $25(OH)D_3$ levels initially. (5) All patients were treated successfully with $1,25(OH)_{2}D_{3}$ and/or calcium supplement. Conclusions : Vitamin D deficiency should be considered as one of the causes of hypocalcemia even in formula(known as vitamin fortified) feeding infants. Fortunately, they were successfully treated with $1,25(OH)_{2}D_{3}$.

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