• Childhood Kidney Diseases
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• 제3권2호
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• pp.237-240
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• 1999

The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. In addition to the described in McCune-Albright syndrome, other endocrinopathies have been reported including hyperthyroidism, acromegaly, Cushing syndrome and vitamin D resistant rickets. The case describes a 6-year-old boy showing bony deformities due to polyostotic fibrous dysplasia, hyperpigmented skin macules, hyperthyroidism and vitamin D resistant rickets. The purpose of this report is to describe a patient of McCune-Albright syndrome with vitamin D resistant rickets which is very rare.

• 대한장애인치과학회지
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• 제6권1호
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• pp.10-14
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• 2010

본 증례에서는 비타민 D 저항성 구루병으로 진단받았으며, 가족력이 있었고, 작은 키, 휜 다리 등의 전신적인 증상을 보이는 환아의 구강 증상과 치료를 보고하였다. 특징적으로 구강 내에 심한 우식이 없는 치아에 다발성 치은 농양이 관찰되었고, 방사선학적으로 유치와 영구치에서 상아법랑경계까지 길게 뻗은 치수각, 얇은 상아질 및 확장된 치수 강이 관찰되었다. 이러한 비타민 D 저항성 구루병 환아에게는 치수 절제술 및 기성 금관 수복뿐만 아니라 더욱 더 적극적인 예방치료와 주기적인 검사가 필요할 것으로 사료된다.

• 대한소아치과학회지
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• 제32권1호
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• pp.152-157
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• 2005

Hypophosphatemia rickets는 비타민 D의 치료량에 내성을 갖기 때문에 Vitamin D-resistant rickets(VDRR)라고도 명명되며, 이는 요세관으로부터 무기질 인산의 재흡수가 감소됨으로써 혈청 칼슘농도는 정상이나 인산농도가 낮고 alkaline phosphatase가 약간 증가되기 때문에 쉽게 진단되는 구루병의 한 형태이다. 이러한 Hypophosphatemia rickets의 임상적인 소견으로 양다리가 휘는 것. 작은 키, 척추측만. 손목과 발목부위의 팽대가 나타나며 구강내 소견으로는 자발적인 치성농양의 높은 발생률, 맹출 지연, 근단공의 폐쇄지연, 얇고 저형성된 법랑질, 명확히 인지하기 힘든 치조백선, 확대된 치수강, 법랑상아경계까지 연장된 치수각 등이 있다. 본 증례는 유치의 상실과 그에 따른 치료를 위해 본원 소아과에서 의뢰된 비타민 D저항성 구루병 환아의 임상소견과 그 치과적 치료에 대해 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제48권6호
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• pp.665-668
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• 2005

저자들은 구루병의 가족력이 있으면서 구루병의 전형적인 임상소견과 저칼슘혈증, 알칼라인 포스파타제의 상승, 2차적인 부갑상선 기능 항진증을 보인 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Animal Bioscience
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• 제34권2호
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• pp.276-284
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• 2021

Objective: The objective of this study was to determine whether a dietary vitamin E (VE) supplement could alleviate any detrimental effects of aged corn on lipid metabolism and antioxidant status in laying hens. Methods: The experiment consisted of a 2×3 factorial design with two corn types (normal corn and aged corn (stored for 4 yr) and three concentrations of VE (0, 20, and 100 IU/kg). A total of 216 Lohmann laying hens (50 wk of age) were randomly allocated into six treatment diets for 12 wk. Each treatment had 6 replicates of 6 hens per replicate. Results: The results show that aged corn significantly decreased the content of low-density lipoprotein cholesterol (p<0.05), and reduced chemokine-like receptor 1 (CMKLR1) mRNA expression (p<0.05) in the liver compared to controls. Diet with VE did not alter the content of crude fat and cholesterol (p>0.05), or acetyl-CoA carboxylase, lipoprotein lipase, fatty acid synthase or CMKLR1 mRNA expression (p>0.05) in the liver among treatment groups. Aged corn significantly increased the content of malondialdehyde (MDA) (p<0.05) and decreased superoxide dismutase (SOD) activity (p<0.05) in the liver. The VE increased the content of MDA (p<0.05) but decreased glutathione peroxidase (GSH-Px) activity in serum (p<0.01) and in the ovaries (p<0.05). Adding VE at 20 and 100 IU/kg significantly increased GSH-Px activity (p<0.05) in liver and in serum (p<0.01), 100 IU/kg VE significantly increased SOD activity (p<0.05) in serum. Aged corn had no significant effects on GSH-Px mRNA or SOD mRNA expression (p<0.01) in the liver and ovaries. Addition of 100 IU/kg VE could significantly increase SOD mRNA expression (p<0.01) in the liver and ovary. Conclusion: Aged corn affected lipid metabolism and decreased the antioxidant function of laying hens. Dietary VE supplementation was unable to counteract the negative effects of aged corn on lipid metabolism. However, addition of 100 IU/kg VE prevented aged corninduced lipid peroxidation in the organs of laying hens.

• 대한소아치과학회지
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• 제36권2호
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• pp.298-304
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• 2009

X-linked hypophosphatemic rickets(이하 XLH로 기술)는 구루병의 일종으로 임상적으로는 비타민 D의 대량 투여로도 개선되지 않고 성염색체 우성 유전되는 유전성 질환이다. 저인산혈증성 구루병, 비타민 D저항성 구루병이라고도 불린다. 본 증례는 서울대학교병원 소아과에서 XLH로 진단받은 6세 6개월의 여아로, 상악 좌측 중절치의 매복을 주소로 소아치과에 의뢰된 환자이다. 환아는 XLH환자에서 전형적으로 보이는 보행 장애, 다리의 휨현상 작은 키, 손목, 무릎, 발목 관절의 종창 등이 관찰되었다. 또 치과적 특징으로 임상적으로 건전한 치아에서 자발적인 치근단 농양과 농루가 발생하였고 치아의 맹출 지연, 우상치 (taurodontism), 근단공의 폐쇄 지연, 확대된 치수강 등을 나타내었기에 이전 문헌 고찰을 통하여 XLH 환아의 특징을 살펴보고 본 환자의 의과적, 치과적 특성 및 매복된 치아의 치료에 대하여 보고하는 바이다.

• Journal of Nutrition and Health
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• 제46권3호
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• pp.239-249
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• 2013

Subclinical vitamin $B_{12}$ deficiency is common in the elderly worldwide. We investigated the change of serum vitamin $B_{12}$ concentration with aging and compared anthropometric data and clinical health indicators between normal (${\geq}$ 340 pg/mL) and low (< 340 pg/mL) serum vitamin $B_{12}$ groups in 470 Korean women aged 65 years and over living in a rural area. Serum vitamin $B_{12}$ concentration showed inverse correlation with age (r = -0.0992, p < 0.05). The normal $B_{12}$ group showed significantly (p < 0.05) higher red blood cell count, hemoglobin, and hematocrit compared to the low $B_{12}$ group, however, no difference in mean corpuscular volume was observed between the two groups. The normal $B_{12}$ group showed significantly lower serum homocysteine concentration (p < 0.01) and prevalence of vitamin D (p < 0.01) or folate deficiency (p < 0.001). Bone mineral density (T-score) was significantly higher (p < 0.05) in the normal $B_{12}$ group, compared with that in the low $B_{12}$ group, and showed positive correlation (r = 0.1490, p < 0.01) with serum vitamin $B_{12}$ concentration after adjusting for age, body weight, and body mass index. No differences in anthropometric data, physical activity, and smoking and drinking habits were observed between the two groups. In conclusion, it could be suggested that older female adults with normal serum vitamin $B_{12}$ level would be less anemic and osteoporotic and more resistant to hyperhomocysteinemia associated chronic diseases than those with low serum vitamin $B_{12}$ level.

• 대한소아치과학회지
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• 제27권1호
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• pp.108-112
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• 2000

저인산혈증성 구루병은 구루병 중에서 보통 용량의 비타민 D 투약 치료에 반응하지 않는 형태로, 성염색체 우성 유전되며, 신세관에서 유기인의 재흡수가 감소되어 생기는 것으로 생각된다. 따라서, 저인산혈증이 특징적 소견이며, 혈청 내 알카리성 인산효소 활성이 증가되어 있고, 혈청 칼슘 농도는 보통 정상 범주에 속한다. 치과적 소견으로 특징적인 것은 임상적으로 건전한 치아에서 나타나는 다수의 자발적 치근단 농양과 농루이며, 치아의 맹출지연과 법랑질 저형성증도 관찰할 수 있다. 치과 방사선적으로는 치수각이 현저히 신장되어 있고, 때로는 상아법랑경계까지 연장되어 있으며, 치아주위 치조백선의 약화나 상실, 비정상적 치조골 소주 양상을 관찰할 수 있다. 본 환아는 저인산혈증성 구루병으로 진단되어 투약 치료 중이며, 구강검사 결과 특징적 치과소견인 다수의 자발적 치근단농양과 농루, 치수각의 현저한 신장 및 치아 맹출지연이 관찰되어 이의 구강 및 방사선 소견에 대해 보고하는 바이다.

• Childhood Kidney Diseases
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• 제25권2호
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• pp.92-111
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• 2021

Purpose: Nephrotic syndrome (NS) is the most common form of glomerulopathy in children. Most pediatric patients respond to glucocorticosteroid treatment (steroid-sensitive NS, SSNS), while approximately 10-15% will remain unresponsive or later become steroid-resistant. There has been a long-standing effort to find biomarkers that may predict steroid responsiveness. Methods: We systematically reviewed current studies which investigated clinically relevant biomarkers for predicting steroid responsiveness in pediatric NS. We performed a PubMed and EMBASE search to identify eligible articles. We collected data on urinary markers, blood/serum markers (including cellular phenotypes and mRNA expression), genotypes and HLA allele frequency. Results: A total of 659 articles were identified following electronic and manual searches. After reviewing the titles, abstracts, and full texts, 72 eligible articles were finally included. Vitamin D-binding protein (VDBP) seemed to be significantly elevated in SRNS than in SSNS, in both serum and urine specimen, although further validation is required. Conclusions: The present paper narratively illustrates current understandings of potential biomarkers that may help predict steroid responsiveness. Further investigation and collaboration involving a larger number of patients are necessary.

• International Journal of Oral Biology
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• 제30권1호
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• pp.23-30
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• 2005

Bone remodeling is a process controlled by the action of two major bone cells; the bone forming osteoblast and the bone resorbing osteoclast. In the process of osteoclastogenesis, stromal cells and osteoblast produce RANKL, OPG, and M-CSF, which in turn regulate the osteoclastogenesis. During the bone resorption by activated osteoclasts, extracellular $Ca^{2+}/{PO_4}^{2-}$ concentration and degraded organic materials goes up, providing the hypertonic microenvironment. In this study, we tested the effects of hypertonicity due to the degraded organic materials on osteoclastogenesis in co-culture system. It was examined the cellular response of osteoblastic cell in terms of osteoclastogenesis by applying the sucrose, and mannitol, as a substitute of degraded organic materials to co-culture system. Apart from the sucrose, mannitol, and NaCl was tested to be compared to the effect of organic osmotic particles. The addition of sucrose and mannitol (25, 50, 100, 150, or 200 mM) to co-culture medium inhibited the number of tartrate-resistant acid phosphatase (TRAP) positive multinucleated cells induced by 10 nM $1{\alpha},25(OH)_2vitaminD_3$ ($1{\alpha},25(OH)_2D_3$). However, NaCl did exert harmful effect upon the cells in this co-culture system, which is attributed to DNA damage in high concentration of NaCl. To further investigate the mechanism by which hypertonicity inhibits $1{\alpha},25(OH)_2D_3$-induced osteoclastogenesis, the mRNA expressions of receptor activator of nuclear factor (NF)-kB ligand (RANKL) and osteoprotegerin (OPG) were monitored by RT-PCR. In the presence of sucrose (50 mM), RANKL mRNA expression was decreased in a dose-dependent manner, while the change in OPG and M-CSF mRNA were not occurred in significantly. The RANKL mRNA expression was inhibited for 48 hours in the presence of sucrose (50 mM), but such a decrement recovered after 72 hours. However, there were no considerable changes in the expression of OPG and M-CSF mRNA. Conclusively, these findings strongly suggest that hypertonic stress down-regulates $1{\alpha},25(OH)_2D_3$-induced osteoclastogenesis via RANKL signal pathway in osteoblastic cell, and may playa pivotal role as a regulator that modulates osteoclastogenesis.