• 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.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.21-24
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• 2021

Purpose: Activating mutations of the calcium-sensing receptor (CASR) are a rare genetic disorder, and result in autosomal dominant hypocalcemia with hypercalciuria (ADHH). ADHH exhibited varying degrees of hypocalcemia. In this study, we report the clinical and molecular characteristics of activating variants in CASR patients diagnosed in Korea. Methods: This study included three patients with activating variants of CASR confirmed by biochemical and molecular analysis of CASR. Clinical and biochemical findings were reviewed chart retrospectively. Mutation analysis of CASR was performed by Sanger sequencing. Results: Subject 1 showed severe symptoms from the neonatal period and had difficulty in controlling the medications that were administered. Subject 2 was identified as having a novel variant of CASR with hypocalcemia and a low parathyroid hormone that were found in the neonatal period. During a course without medication, hypocalcemia occurred suddenly around 2 years of age. Subject 3 was diagnosed with hypoparathyroidism with hypocalcemic seizures starting from the neonatal period. About 4 years without taking medication with any symptom. However, at 10 years old revisited by repetitive hypocalcemic seizure events. Subject 1 and 3, were heterozygous for c.2474A>T (p.Y825F), c.2395G>A (p.E799K) located in the transmembrane domain (TMD) of CASR. Subject 2 was heterozygous for c.403A>C (S430L) located in the extracellular domain (ECD) of CASR. Conclusion: We reported 3 patients who have activating CASR variant with different onset and severity of symptoms. In the future, further study is needed to determine how the protein level according to the location of the mutation of CASR affects the degree of symptoms.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.44-49
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• 2020

Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end organ resistance to parathyroid hormone. PHP is caused by the deficiency of the α-subunit of the stimulatory G protein encoded by the GNAS gene, and this defect arises from genetic or imprinting disturbances. Sporadic PHP 1b shows two or more methylation defects of upstream of GNAS gene and some of them lead to loss of maternal GNAS imprints, therefore, only paternally derived GNAS gene is expressed. Here, we report a 10 year 9 month old boy presented with intermittent tetany who was finally diagnosed with PHP 1b caused by paternal uniparental disomy of chromosome 20q.

• Animal Bioscience
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• v.36 no.10
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• pp.1578-1583
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• 2023

Objective: This study was conducted to evaluate the effects of vitamin K (VK) supplementation on reproductive performance and bone metabolism-related biochemical markers in sows. Methods: Twenty-four Large White×Landrace sows (mean parity 4.04) were randomly assigned to two dietary treatments (NC diet, a basal diet with 0.5 mg/kg of VK₃; VK diet, a basal diet with 5 mg/kg of VK₃) with twelve replicates per treatment and one sow per replicate according to parity. The experiment started on day 107 of gestation and lasted until day 21 of lactation (weaning). Results: We observed that there were no differences (p>0.05) in average daily feed intake, backfat loss of sows, live piglet number at birth and weaning, average birth weight, average weaning weight, and average daily gain of piglets between two treatments. The apparent total tract digestibility of phosphorus was increased (p<0.05) in VK sows compared with NC sows. The serum bone alkaline phosphatase, osteocalcin, type I procollagen amino-terminal peptide, and type I procollagen carboxyl-terminal peptide on day of farrowing were higher (p<0.05) in VK sows than in NC sows. The serum phosphorus, parathyroid hormone, tartrate-resistant acid phosphatase, and tumor necrosis factor-alpha on day of weaning were lower (p<0.05) in VK sows compared with NC sows. Conclusion: Therefore, the overall results suggested that increasing dietary VK₃ (0.5 to 5 mg/kg) during lactation improved the apparent total tract digestibility of phosphorus and serum bone metabolism biochemical markers in sows.

• Animal Bioscience
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• v.35 no.9
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• pp.1426-1433
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• 2022

Objective: The present research was conducted to evaluate the interactive effect of dietary concentration of calcium (Ca) and 25-hydroxy vitamin D3 (25OHD3) on the performance, blood composition and digestibility of laying hens. Methods: A total of 540 Hy-line brown laying hens aged 61 to 70 weeks were randomly allotted in a 3×3 factorial arrangement, consisting of three levels of 25OHD3 (0, 25, and 50 ㎍/kg) and three levels of Ca (3.5%, 4.0%, and 4.5%). All diets had basal concentration of 3,000 IU/kg of vitamin D3 including the 2,800 kcal/kg of metabolic energy and 16% of crude protein. Results: The results showed that interactive effect (p<0.05) between Ca and 25OHD3 was such that dietary 25OHD3 linearly increased interleukin-6 at all levels of Ca inclusion. Interaction (p<0.05) occurred with the highest parathyroid hormone in laying hens that received dietary concentration of Ca (3.5%) with 25OHD3 (50 ㎍/kg), and Ca (4.0%) with 25OHD3 (50 ㎍/kg). Egg production and egg weight significantly (p<0.05) increased in the 4.5% Ca group compared to the 3.5% to 4.0% Ca groups. Egg shell thickness and tibia bone length also increased (p<0.05) in groups fed a high-Ca diet (4.0% to 4.5%). Phosphorus digestibility significantly (p<0.05) increased along with dietary Ca level. Among the tested 25OHD3 groups, higher (p<0.05) egg production and tibia thickness were present in hens fed 50 ㎍/kg of 25OHD3. Furthermore, Ca digestibility serum Ca and 25OHD3 were significantly increased in group offered 50 ㎍/kg of 25OHD3. Conclusion: The results gathered in this study indicate that dietary concentrations of 4.0% to 4.5% Ca and 50 ㎍/kg 25OHD3 improve the performance of hens from 61 to 70 weeks of age.

• Korean Journal of Exercise Nutrition
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• v.13 no.1
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• pp.37-44
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• 2009

The purpose of this study was to investigate the change of bone metabolic parameters between climbing exercise training and treadmill running training with alpha lipoic acid supplementation in ovariectomized rats. Fifty-six Sparague-Dawley, 8 weeks of age, were assigned into nine groups: normal control at pre-test (Pre-NC), normal control at post-test (NC), sham-sedentary (SS), ovariectomized-control (OVX-Con), ovariectomized-ALA inject (OVX-ALA), ovariectomized-climbing exercise (OVX-CE), ovariectomized-ALA inject+climbing exercise (OVX-ACE), ovariectomized-treadmill exercise (OVX-TE) and ovariectomized-ALA inject+treadmill exercise (OVX-ATE). The climbing exercise group voluntarily climbed the 200 cm tower to drinking water from the bottle set at the top of it. The treadmill exercise group was performed the 60 min treadmill running with grade 6-8%, and velocity 10-15 m/min. The frequency of exercise training was performed 6 days per wk in both training intervention. For the comparison of bone metabolic responses following to different training intervention, the strength, length and weight of femur, total bone density, bone mineral contents, deoxypyridioline, osteocalcin and parathyroid hormone, estradiol and lutenizing hormone were measured in this study. The body weight was higher in the OVX-Con, OVX-ALA and OVX-TE groups as compared to NC group. The total bone mineral density of OVX-ACE showed a higher value than SS, OVX-Con, OVX-ATE and OVX-TE. But urine and blood metabolic parameters showed no significance among groups. In conclusion, this study results suggested that climbing exercise training and alpha lipoic acid supplementation may an effective intervention for prevention of osteoporosis in ovriectomized rats.

• The Korean Journal of Nuclear Medicine Technology
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• v.19 no.2
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• pp.112-114
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• 2015

Purpose Vitamin D to Anti- Rickets both steroid compounds showing activity, By acting on bone tissue secretary and the key to maintain serum Ca homeostasis. The blood level of vitamin D is the largest in D3 that the concentration of the metabolite is reflected in the holding state of vitamin D in vivo. Sunlight to change the 7-dehydrocholesterol in the skin and through the skin to D3, In the liver in combination with the D2 and D3 D4 changes. The Radioimmunoassay(RIA) method is measuring the D 3, the sensitivity can be measured also difficult trace substance to measure the normal test because it is very sensitive, but recently, a check is possible, for the Total D3 in Chemimicroparticle immunoassay(CMIA) or Chemiluminescent immunoassay(CLIA) measuring using microparticle RIA and CMIA(Architect i2000SR) / use the CLIA(DXI-800) method to compare and evaluate the correlation between the tests in the same test items. Materials and Methods Commissioned from January 2014 to March 2015 patients were enrolled in a total of 273 people. 29 out of 273 people conducted by RIA were compared with CMIA, 244 patients were compared with CLIA. Using reagents and equipment were used RIA(Diasource), CMIA(Architect i2000SR, Abbott Diagnostics) / CLIA( Unicel DXi-800, Beckman coulter). Results Correlation of the RIA and CLIA was a R2 = 0.1844 (y = 0.7303x + 3.9005), and the correlation of RIA CMIA is R2 = 0.2762 (y = 0.8862x + 4.56) respectively. (According to statistics, during the same period RIA is Deficiency 4.31%, Insufficiency 90.53%, Sufficiency 5.16%, was Excess 0%, CLIA / CMIA is Deficiency 17.02%, Insufficiency 75.91%, Sufficiency 7.03%, indicating the distribution of 0.03 % Excess) Conclusion Serum vitamin D and parathyroid hormone that show an inverse relationship, the level above which are not parathyroid hormone and vitamin D reduced the increase. The density is different for each study, at most 20 is reported to be the maximum between 30 ng / ml. In Korea it requires a proposed standard of vitamin D deficiency, reference to the WHO lack the case more than 10ng/ml, 20ng/ml and defined by the lack of, if not more than, the IOM, but looking at 12ng/ml or less to the normal to lack, at least 20ng/ml, the reference do not match the deficit under 20ng/ml, 21-29ng/ml relative lack between, was also defined as a sufficient condition for more than 30ng/ml. Although not statistically is between RIA and CLIA two ways to vitamin D levels change according to season match, when seasonally seen in summer as commonly known (April to September), winter (October to March) relative to the increase measured than it was found. Finally, the study on the correlation between the two methods have been expected to result in a consistent and apply the same view high reference value on the graph is difficult. However, there may be differences between the test equipment and methods, and could be especially the case of RIA method using an organic solvent is difficult to compare different methods and correlated view similar trend in vitamin D deficiency and quarterly aspect ratio.

• The Korean Journal of Nuclear Medicine Technology
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• v.14 no.2
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• pp.166-171
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• 2010

Purpose: The SPECT/CT is able to acquire diagnostic information resolved the difficult problems that discriminate regions of focals by intergrating functional images and anatomical images. We introduce the usefulness of "Volumetrix Suite" which can describe 3D images by the convergence of the SPECT/CT images and reference CT images. Materials and Methods: We applied Volumetrix Suite program (Volumetrix IR, Volumetrix 3D) to patients, Bone, Venography, Parathyroid, WBC, taken diagnostic CT examination which have same regions of focal in Seoul Metropolitan Government Seoul National University Boramae Medical Center. After acquiring SPECT/CT images and reference CT images, we fused a couple of scans applying for this programs. The CT scan of Infinia Hawkeye 4 shows limitation of anatomical information. For this reason, we tried to transfer CT images that have lots of diagnostic informations as the form of Dicom file in PACS, and changed from 2D images to 3D images after image registering in Xeleris Workstaion of Hawkeye 4. Results & Conclusion: By using Volumetrix Suite program, we're able to acquire more accurate anatomical informations with 3D rendering which can distinguish both location and range of focals in Infinia Hawkeye 4. Thus, the result of utilizing this program indicate that nuclear medicine anatomical images can be improved by providing more diagnostic imformations produced by its program.

• The Korean Journal of Nuclear Medicine Technology
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• v.14 no.1
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• pp.138-142
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• 2010

Purpose: PTH (parathyroid hormone) level is a useful index for prediction of hypocalcemia after thyroidectomy. The fast results are required for an early diagnosis of hypocalcemia. In this study, we evaluated the PTH change according to incubation time, and investigated the usefulness of hypocalcemia diagnosis of PTH results in early incubation time. Materials and Methods: The subjects were 131 patients who had taken the PTH test from July to August in 2009. All experiments were used IRMA method. PTH value were evaluated with the correlation between precision (10 times repeat) and recovery rate and at 0.5, 3, 6 and $18{\pm}2$ (below overnight) hours following incubation time. Data analysis was investigated with relationship of the sensitivity, specificity, PPV (positive predictive value) and accuracy. Results: The correlation was time-dependent with levels reaching $R^2$=0.987 at 0.5 hours, $R^2$=0.993 at 3 hours and $R^2$=0.996 at 6 hours compare to overnight levels. The precision (%CV${\pm}$SD) were $15.92{\pm}15.54$ at 0.5 hours, $6.91{\pm}7.38$ at 3 hours, $4.30{\pm}4.69$ at 6 hours and $4.59{\pm}2.59$ at overnight. The recovery rate (%Mean${\pm}$SD) were $96.8{\pm}5.44$ at 0.5 hours, $102.6{\pm}4.35$ at 3 hours, $100.7{\pm}2.56$ at 6 hours and $102.2{\pm}5.98$ at overnight. When 15 pg/ml of overnight density was set up as criteria, we measured the sensitivity, specificity and PPV, accuracy at 0.5, 3, 6 hours. The sensitivity was shown to 97.5% at all times. The specificity was 96.0% at 0.5 hours, 100% at 3 hours and 92.3% at 6 hours for control, respectively. The PPV was 86.6% at 0.5 hours, 100% at 3 hours and 92.8% at 6 hours. The accuracy was shown to 84.7% at 0.5 hours, 97.5% at 3 hours and 90.6% at 6 hours. These data were accompanied by a corresponding PTH value of overnight incubation time, which significantly correlated with early time results. Conclusion: The values of PTH at 3 hours has favorable the rate of concordance of 94.1% and may be useful for prediction of hypocalcemia, and it responses to overnight incubation PTH values. Therefore, This method may be an attractive alternative to proper treatment to stop symptom revelation by giving a calcium agent to the patient.

• The Korean Journal of Nuclear Medicine Technology
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• v.12 no.3
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• pp.214-221
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• 2008

Purpose: We make a qualitative analysis of whether Fusion SPECT/CT can find lesion's anatomical sites better than existing SPECT or not, and we want to show the usefulness of SPECT/CT through finding out effects of CT attenuation correction on SPECT images. Materials and Method: 1. The evaluation of fusion images: This study comprised patients who was tested $^{131}I$-MIBG, Bone, $^{111}In$-Octreotide, Meckel's diverticulum, Parathyroid MIBI with Precedence 16 or Symbia T2 from 2008 Jan to Aug. We compared SPECT/CT image with non fusion image and make a qualitative analysis. 2. The evaluation of attenuation correction: We classified 38 patients who was tested 201Tl myocardial exam with Symbia T2 into 5 sections by using Cedars Sinai' QPS program - Ant, Inf, Lat, Septum, Apex. And we showed each section's perfusion states by percentage. We compared the each section's perfusion-states differences between CT AC and Non AC by average${\pm}$standard deviation. Results: 1. The evaluation of fusion images : In high energy $^{131}I$ cases, it was hard to grasp exact anatomical lesions due to difference between regions and surrounding lesions' uptake level. After combining with CT, we could grabs anatomical lesion more exactly. And in meckel's diverticulum case or to find lesions around bowels or organs with $^{111}In$ cases, it demonstrates its superiority. Bone SPECT/CT images help to distinguish between disk spaces certainly and give correct results. 2. The evaluation of attenuation correction: There is no significant difference statistically in Ant and Lat (p>0.05), but there is a meaningful difference in Inferior, Apex and Septum (p<0.05). AC perfusion at inferior wall in the 5 sections of myocardium: The perfusion difference between Non AC perfusion image ($68.58{\pm}7.55$) and CT corrected perfusion image ($76.84{\pm}6.52$) was the largest by $8.26{\pm}4.95$ (p<0.01, t=10.29). Conclusion: Nuclear medicine physicians can identify not only molecular image which shows functional activity of lesions but also anatomical location information of lesions with more accuracy using the combination of SPECT and CT systems. Of course this combination helps nuclear medicine physician find out the abnormal parts. Moreover combined data sets help separate between normal group and abnormal group in complicated body part. So clinicians can carry out diagnosis and treatment planning at the same time with a single test image. In addition, when we examine a myocardium in thorax where attenuation can occur easily, we can trust perfusion more in a certain region in SPECT test because CT provides the capability for accurate attenuation correction. In these reasons, we think we can prove the justice after treatment fusion image.