• Childhood Kidney Diseases
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• v.16 no.2
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• pp.73-79
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• 2012

Purpose: The association of mitochondrial DNA (mtDNA) mutations, deletions and copy number with progressive changes in patients with some glomerular disease and end-stage renal disease have been reported. In this study, we performed mtDNA mutation analysis in children with IgA nephropathy to investigate its role in progressive clinical course. Methods: Seven children with IgA nephropathy were involved in this study. MtDNA isolated from platelet was amplified by PCR and sequenced entirely. Results: The mean age at renal biopsy was $11.5{\pm}2.2$ year and the mean age at latest evaluation was $17.9{\pm}3.2$ year. The mean follow-up period were $7.8{\pm}3.1$ years. Patients was divided into 2 groups according to the amount of proteinuria at presenting manifestation. Group 2 patients were nephrotic syndrome. Renal function reveals within normal range in all patients. In group 2 patients, the mean serum albumin level was significantly lower than those of group 1 ($3.7{\pm}0.6g/dL$ vs. $4.7{\pm}0.2g/dL$, P=0.0241) and the mean total cholesterol level was significantly higher than those of group 1 ($222.7{\pm}35.7mg/dL$ vs. $148.3{\pm}29.1mg/dL$, P=0.0283). In Group 2 patients, total amount of protein of 24 hour collected urine also significantly higher than those of group 1 ($1,466.0{\pm}742.5mg$ vs. $122.5{\pm}48.1mg$, P=0.0135). Pr/Cr ratio in random urine sample was also higher in group 2 than those of group 1 but the statistical significance was not noted ($1.8{\pm}1.6$ vs. $0.2{\pm}0.2$, P=0.0961). Deletion of mtDNA nt 8272-8281 were observed in two patients, one patient in each groups, respectively. This is noncoding lesion. No patients demonstrated the mtDNA mutations. Conclusions: We have identified a deletion of mtDNA nt 8272-8281 in two children with IgA nephropathy. Further studies are needed to clarify the role of mitochondrial function in the progressive change of IgA nephropathy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Korean Journal of Clinical Laboratory Science
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• v.48 no.4
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• pp.296-303
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• 2016

This study was performed to evaluate the effect of hemoglobin (Hb) on bone mineral density (BMD) in university students by performing a quantitative analysis. The subjects included healthy university students aged 20 to 30 years. Although osteoporosis has traditionally been considered as a disease of aging women, it is becoming an increasingly concerning male health problem. Diagnosis of osteoporosis is calculated with a quantitative assessment of BMD. Laboratory blood and urine tests are mainly used with low BMD or fragility fractures to identify any possible causes of bone metabolism disorders. In this study, there was no difference in BMD according to gender. The average red blood cell (RBC), Hb, and Hematocrit (HCT) were significantly higher in males (p<0.01). The correlation between lumbar spine, skeletal muscle mass (SMM), and basal metabolic rate (BMR) was statistically significant (p<0.01). Hb showed a 51.7% statistical influence on BMD by multiple regression analysis. These findings are useful to understand the relationship between BMD and Hb; lower Hb level is associated with lower BMD. The Hb level was the strongest predictor of abnormal BMD. In conclusion, this study showed that a low Hb value was significantly correlated with low bone mass, suggesting that a low Hb value is a risk factor for changes in bone turnover that leads to a decrease bone density.

• Journal of Nutrition and Health
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• v.20 no.2
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• pp.90-103
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• 1987

A study was conducted to measure nitrogen intake and excretion in young korean women on their normal diet and leading normal activity level. Dietary survey by food record, fecal and urinary samples were collected for 3 days in 19 healthy female college students in Korea. On one of the 3 days, duplicate of one-day diet was collected from each subjects. Mean daily intakes of energy and protein were calculated from food recorded. Duplicate diet samples and pooled fecal samples were analyzed for N content. Pooled urine samples were analyzed for total N, urea N, and creatinine content. Apparent N absorption, apparent N balance and urea N/creatinine N were calculated to evaluate protein nutritional status. The results obtained are summarized as following ; 1) Accordingly to food record, mean daily intakes of energy, protein, carbohydrate and far were 1535.2 $\pm$53.78Kcal, 55.95$\pm$2.97g(total nitrogen 8.95$\pm$0.45g), 254.13$\pm$10.31g and 39.24$\pm$2.76 g, providing 14.6%, 66.2%, 19.2% of total energy respectively. 2) Nitrogen intake by chemical analysis was 7.16$\pm$0.31g/day (protein 44.75$\pm$1.94kg/day) providing 82.39$\pm$4.58% of nitrogen intake by food record. The difference of total nitrogen intake between food record and chemical analysis in diets was significant(p<0.05). 3) Mean daily fecal nitrogen excretion was 1.38$\pm$0.10g and then mean apparent digesbility of protein was 80.53$\pm$5.21%. 4) Mean daily urinary nitrogen excretion, urea N excretion and creatinine excretion were 6.03$\pm$0.30g, 4.52$\pm$0.22g, and 0.88$\pm$0.04g respectively. Urinary urea nitrogen was 75.2$\pm$1.38% of total urinary nitrogen excretion and urinary nitrogen was 85.4$\pm$3.56% of total nitrogen intake by chemical analysis. 5) Mean urea N/creatinine N ration was 14.01$\pm$0.77. 6) Mean nitrogen balance was -0.244$\pm$0.33g/day. From the above results, it is concluded that the subjects in this study seem to be in marginal protein nutritional status and therefore should increase dietary protein intake.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.147-154
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• 2015

Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.

• Journal of Veterinary Clinics
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• v.29 no.2
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• pp.130-133
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• 2012

The purpose of this study is to assess the relationship between glomerular filtration rate (GFR) and age by using dynamic computed tomography (CT) and Patlak plot analysis in dogs. Fifteen dogs were used in this study. CT-GFR study was performed under general anesthesia using propofol and isoflurane. 1 ml/kg dosage of 300 mgI/ml iohexol was administered at a rate of 3 ml/s during GFR measurement. CT-GFR was determined with a single-slice dynamic acquisition and Patlak plot analysis. The individual and global GFR values were calculated to plasma clearance per body weight (ml/min/kg). Bodyweight ($mean{\pm}SD$) ranged from 2.0 to 5.7 kg ($3.31{\pm}1.13$ kg). Age ranged from 3 years to 13 years old ($7.14{\pm}3.30$). $Mean{\pm}SD$ creatinine ($0.53{\pm}0.34 $mg/dl), phosphorus ($4.1{\pm}1.2$ mg/dL), and albumin ($3.3{\pm}0.3$ mg/dL) concentrations and urine protein-to-creatinine ratios (all ratios were < 0.5) were within reference ranges. Abdominal ultrasonography revealed small-sized renal calculi, mineralization, or renal cyst at eight dogs. The global CT-GFR ranges shown in this study was 2.57 to 6.60 ml/min/kg. In this study, there was no trend toward weight-adjusted CT-GFR with increasing age. We found no relationships between age-related kidney dysfunction in fifteen dogs. Small-sized renal calculi or cysts did not affect renal function in this study. However, it is thought that a large sample size may have been required to document an age effect.

• Journal of Preventive Medicine and Public Health
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• v.22 no.3 s.27
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• pp.355-367
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• 1989

This study examined the physical and mental health factors affecting the industrial accidents of 142 injured and 1,212 uninjured workers in the shipbuilding industry from 1986 to 1988. The results acquired from the Todai Health Index (THI) and from analysis of the health examination were as follows: 1. Among the personal characteristics of the workers, the educational level of injured workers was significantly lower than that of the uninjured workers. 2. Among the physical characteristics, vision and $R\ddot{o}hrer$ Index of the injured workers were lower than those of the uninjured workers, and the difference was statistically significant. On the other hand, the differences in height, weight, hearing function, hematocrit, blood pressure, urine test, and X-ray findings were not statistically significant between the injured and uninjured workers. 3. The score of the THI questionnaire on the physical and mental health of the injured workers was higher than that of the uninjured workers, and the difference was statistically significant. 4. Form the THI score, the industrial workers had complained more about mental health than physical health and there was a statistically singinficant relation with the industrial accidents. 5. The relative risk expressed in terms of the odds ratio was 2.9 for poorer vision, 2.7 for a lower educational level, 2.2 for a higher THI score and 1.6 for overdrinking. 6 Educational level, vision, and the THI score were selected as significant factors influencing industrial accidents based on a log-linear model. According to the results of this model by logistic analysis, the odds ratio of industrial accidents was 1.8 for a lower educational level, 1.7 for poorer vision, and 1.6 for a higher THI score. 7 By event history analysis with the dependent variable as the duration of work at the time of the industrial accident, educational level, age, $R\ddot{o}hrer$ Index and THI score were the statistically significant variables selected, and the hazard rate of industrial accident occurrence was 0.24 for a lower educational level, 0.92 for age, 0.99 for a lower $R\ddot{o}hrer$ Index and 2.72 for a higher THI score. As we have seen, educational level and THI score were the most significant factors affecting the hazard rate of industrial accidents. Vision, $R\ddot{o}hrer$ Index, age, and drinking behavior were also statistically significant variables influencing industrial accidents. Therefore, in order to prevent industrial accidents, it is necessary to establish a health management plan for industry which can objectively evaluate not only the physical but also the mental health of the workers. If we use this type of study as a prospective study design, we can determine the relative risk of physical and mental health factors on industrial accidents. Furthermore, it is expected that this type of study will provide workers at high risk with more precise basic data for a health managment plan for industrial accident prevention.

• Childhood Kidney Diseases
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• v.17 no.2
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• pp.122-126
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• 2013

Cystinuria is an autosomal recessive disease characterized by impaired transport of cystine and dibasic amino acids in the proximal renal tubule, resulting in the formation of cystine stones. It is believed to account for about 1% of all kidney stones and up to 10% of pediatric stones. Here we report a case of cystinuria with multiple renal stones confirmed by genetic mutational analysis. An 8-month-old girl was admitted to AMC with persistent fever and multiple renal stones. A renal sonogram showed multiple stones at the right renal pelvis, right distal ureter, and left renal medullary portion. An approximately 1 cm renal stone was extracted spontaneously, and stone analysis revealed it to be composed entirely of cystine. Cystinuria was confirmed by increased urine dibasic amino acid levels, including cysteine, and genetic mutational analysis showed the patient to be a homozygote for the pathogenic c. 1820del (p.L607fs) of SLC3A1. Despite treatment with oral hydration and urinary alkalinization, and restricted intake of animal protein, the stones increased in size and number. The patient has since been treated with tiopronin.

• Analytical Science and Technology
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• v.34 no.6
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• pp.241-250
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• 2021

Calibration curves are essential in quantitative methods and for improving the accuracy of analyte measurements in biological samples. In this study, a statistical analysis model built in the R language (The R Foundation for Statistical Computing) was used to identify a set of weighting factors and regression models based on a stepwise selection criteria. An LC-MS/MS method was used to detect the presence of urinary methamphetamine, amphetamine, and 11-nor-9-carboxy-Δ⁹ -tetrahydrocannabinol in a sample set. Weighting factors for the calibration curves were derived by calculating the heteroscedasticity of the measurements, where the presence of heteroscedasticity was determined via variance tests. The optimal regression model and weighting factor were chosen according to the sum of the absolute percentage relative error. Subsequently, the order of the regression model was calculated using a partial variance test. The proposed statistical analysis tool facilitated selection of the optimal calibration model and detection of methamphetamine, amphetamine, and 11-nor-9-carboxy-Δ⁹-tetrahydrocannabinol in urine. Thus, this study for the selection of weighting and the use of a complex regression equation may provide insights for linear and quadratic regressions in analytical and bioanalytical measurements.

• Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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• 2022.05a
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• pp.165-167
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• 2022

The proportion of cat cats among companion animals has been increasing at an average annual rate of 25.4% since 2012. Cats have strong wildness compared to dogs, so they have a characteristic of hiding diseases well. Therefore, when the guardian finds out that the cat has a disease, the disease may have already worsened. Symptoms such as anorexia (eating avoidance), vomiting, diarrhea, polydipsia, and polyuria in cats are some of the symptoms that appear in cat diseases such as diabetes, hyperthyroidism, renal failure, and panleukopenia. It will be of great help in treating the cat's disease if the owner can recognize the cat's polydipsia (drinking a lot of water), polyuria (a large amount of urine), and frequent urination (urinating frequently) more quickly. In this paper, 1) Efficient version of DeepLabCut for posture prediction running on an artificial intelligence server, 2) yolov4 for object detection, and 3) LSTM are used for behavior prediction. Using artificial intelligence technology, it predicts the cat's next, polyuria and frequency of urination through the analysis of the cat's behavior pattern from the home CCTV video and the weight sensor of the water bowl. And, through analysis of cat behavior patterns, we propose an application that reports disease prediction and abnormal behavior to the guardian and delivers it to the guardian's mobile and the main server system.