Glycogen storage diseases(GSD) are inherited disorders affecting glycogen metabolism and type I GSD is due to the absence or deficiency of glucose-6-phosphatase(G6Pase) enzyme in the liver, kidney, and intestinal mucosa. The defect leads to inadequate hepatic conversion of G6P to glucose and thus make affected individuals susceptible to fasting hypoglycemia, and the accumulation of glycogen occurs in the liver and other organs. Type Ia is the most common form of GSD and clinically growth retardation may manifest of GSD itself rather than growth hormone deficiency(GHD), but we experienced a case of type I GSD with GHD in a 14-year-o1d male. The height was 125 cm, compatible with 50 th percentile of height of 8 years of age. He has doll-like face with fat cheek, relatively thin extremities, and metabolic acidosis, hyperuricemia, hypoglycemia, hyperlipidemia. GH stimulation test with clonidine and L-dopa revealed that the patient had decreased GH secretion. After laboratory work up including liver biopsy, he was diagnosed as type I GSD. Hypoglycemia was managed with frequent feeding with high starch diet(uncooked cornstarch). Metabolic acidosis and hyperuricemia were treated with sodium bicarbonate, allopurinol and probenecid. The patient is being followed at out-patient clinic with clinical improvement after of diet therapy and GH administration.
Acidosis ; Allopurinol ; Biopsy ; Cheek ; Clonidine ; Diet Therapy ; Extremities ; Glucose ; Glycogen Storage Disease* ; Glycogen* ; Growth Hormone* ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Intestinal Mucosa ; Kidney ; Levodopa ; Liver ; Male ; Metabolism ; Outpatients ; Probenecid ; Sodium Bicarbonate ; Starch

PURPOSE: Exercise is frequently recommended in the management of diabetes mellitus(DM) and can improve blood control by increasing insulin sensitivity and psychological benefits. Exercise can result in good glycemic control in type 2 DM, when combined with diet and drug therapy. However, in type 1 DM, the expected improvement in glycemic control with exercise have not been clearly established. Effects of exercise on glycemic control in patients with type 1 DM were investigated. METHODS: 20 patients with of type 1 DM, who were no retinopathy, neuropathy, nephropathy and cardiac disorders, were enrolled and exercised for 30min. with 50% of individualized maximum VO2. Blood sugar concentration were measured before, immediate and 15min after exercise. The results were evaluated with HbA1c, C-peptide and DM duration. RESULTS: Blood sugar concentration were significantly decreased from pre-exercise 198+/-9.7mg/dL to immediate 145+/-7.1mg/dL and at 15min. Post-exercise 134+/-4.0mg/dL(P<0.05). In case with HbA1c<10%, there was significantly decreased in blood sugar level from pre-exercise 176+/-9.7mg/dL to immediate 123+/-63.2mg/dL and at 15min post-exercise 113+/-1.9mg/dL(P<0.05). In case with HbA1c>10% there was also significantly decreased in blood sugar levels 222+/-64.7mg/dL, 169+/-6.1mg/dL, 157+/-1.2mg/dL respectively(P<0.05). Group with moderate decreased blood sugar(40-99mg/dL) was 8 patients(42.1%), group with mild decreased blood sugar(<40mg/dL) was 7 patients(36.8%) and group with decreased more than 100mg/dL was 4 patients(21.5%). There was no correlation in degree of decreased blood sugar concentration among HbA1c, C-peptide, DM duration. CONCLUSION: Proper exercise in type 1 diabetic children can decrease blood sugar level significantly and make good glycemic control and can decrease DM microvascular complications in addition to motivating physically active lifestyle.
Blood Glucose ; C-Peptide ; Child ; Diabetes Mellitus ; Diabetes Mellitus, Type 1* ; Diet ; Drug Therapy ; Humans ; Insulin Resistance ; Life Style

OBJECTIVES: The myelodysplastic syndromes (MDS) are a group of acquired clonal hematopoietic disorders characterized by peripheral cytopenias and a hypercellular or normocellular dysplastic bone marrow. The mechanisms responsible for development of MDS are not known. We performed this study to evaluate the hematopoietic abnormalities and apoptosis in MDS. METHODS: Long-term bone marrow culture (LTBMC) was performed for colony assays, cobblestone area assay, stromal morphologic changes from 7 patients with MDS and 7 normal controls. In situ nick end labeling (ISNEL) method was performed for detection of apoptosis from LTBMC in 7 patients with MDS and 7 normal controls. ISNEL method also performed in bone marrow cell bloc samples in 36 patients with MI3S. RESULTS: Viability of nonadherent cells from LTBMC of patients with MDS was not decreased compared with normal controls at 1 week, but significantly decreased at 2 and 3 weeks compared with normal controls (P<0.0001). Formation of the cobblestone areas from patients with MDS was slightly decreased compared with normal controls at 1st week, but significantly decreased at 2nd and 3rd weeks compared with normal controls (P<0.0001). Slightly decreased compared with normal controls at 1 week, but significantly decreased at 2 and 3 weeks compared with normal controls (P<0.0001). Stromal layers produced in LTBMC of normal controls and 1 patient with MDS were detected at 1 week and were formed confluent stroma from 3 weeks, but another patients with MDS who did not form a confluent stroma. Patients with MDS had significantly lower colony forming unit granulocyte-macrophage (CFU-GM) compared with normal controls at 1 (P<0.01) and 2 weeks (P<0.001) of LTBMC. Two weeks of LTBMC resulted more profound inhibition of CFU-GM formation than 1 week (P<0.0001). Apoptotic cell death was absent in adherent and non adherent cells from normal controls at 1 and 2 weeks, but massive apoptotic cell death was found in adherent and non adherent cells from patients with MDS at 1 and 2 weeks and the degree of apoptosis was profound at 2 weeks compared with 1 week. Among the 36 patients, fifteen patients demonstrated varying degrees of apoptosis positive cells, 4 having low, 8 intermediates, and 3 high scores. Remaining 21 patients showed absent apoptosis or only occasional positive cells. CONCLUSION: Hematopoietic abnormalities such as a failure of differentiation are caused by the stromal defects and the biologic basis of the apparent paradox of peripheral cytopenias in the face of hypercellular (or normocellular) marrow is related by intramedullary apoptotic cell death of the stromal and hematopoietic cells.
Apoptosis* ; Bone Marrow Cells ; Bone Marrow* ; Cell Death ; Granulocyte-Macrophage Progenitor Cells ; Humans ; In Situ Nick-End Labeling* ; Myelodysplastic Syndromes* ; Stem Cells

No abstract available.
Acute Kidney Injury* ; Lymphoma*

Purpose: High-risk pregnancy, resulting in major complications, such as abortion, gestational hypertension, and preterm labor, are on the rise, requiring intervention. Increased concentration of particulate matter that is 10 μg per cubic meter or less in diameter (PM10) due to increased air pollution and industrialization has recently been noted as a risk factor for health problems, and prior studies have reported that PM10 is related to abortion, gestational hypertension, and preterm labor. Methods: This study used data from the Korean medical panel between 2008 and 2016 to identify 879 women with normal pregnancies and 301 women diagnosed with high-risk pregnancies. The association between high-risk pregnancy and PM10 was analyzed using the annual average regional concentration during the same period by the Korea Environment Corporation. Results: At 35 years of age or older, the risk of abortion (p<0.001; 95% confidence interval [CI], 1.43–2.71) and preterm labor increased (p<0.05; 95% CI, 0.33–0.90). Married pregnant women were at a high risk of preterm labor (p<0.05; 95% CI, 0.25–0.98), and the prevalence of gestational hypertension was high in the metropolitan area (p<0.05; 95% CI, 12.09–25.93). On comparing the average annual concentration of particulate matter according to the level of atmospheric ventilation of the Korea Environment Corporation using a cutoff of ≤50 μg/m3, the probability of preterm labor was 2.2 times higher in groups exposed to particulate matter concentration of ≥50 μg/m3 (p<0.01; 95% CI, 1.49–3.25). Conclusion PM10 was related to preterm labor, and the risk of preterm labor was high if the average annual concentration of PM10 in the individual’s residential area exceeded 50 μg/m3.

No abstract available.
Fetus* ; Humans ; Male* ; Mesothelioma*

Background: Dipeptidyl peptidase-4 inhibitor (DPP-4i) and renin-angiotensin system (RAS) blockade are reported to affect the clinical course of coronavirus disease 2019 (COVID-19) in patients with diabetes mellitus (DM). Methods: As of May 2020, analysis was conducted on all subjects who could confirm their history of claims related to COVID-19 in the National Health Insurance Review and Assessment Service (HIRA) database in Korea. Using this dataset, we compared the short-term prognosis of COVID-19 infection according to the use of DPP-4i and RAS blockade. Additionally, we validated the results using the National Health Insurance Service (NHIS) of Korea dataset. Results: Totally, data of 67,850 subjects were accessible in the HIRA dataset. Of these, 5,080 were confirmed COVID-19. Among these, 832 subjects with DM were selected for analysis in this study. Among the subjects, 263 (31.6%) and 327 (39.3%) were DPP4i and RAS blockade users, respectively. Thirty-four subjects (4.09%) received intensive care or died. The adjusted odds ratio for severe treatment among DPP-4i users was 0.362 (95% confidence interval [CI], 0.135 to 0.971), and that for RAS blockade users was 0.599 (95% CI, 0.251 to 1.431). These findings were consistent with the analysis based on the NHIS data using 704 final subjects. The adjusted odds ratio for severe treatment among DPP-4i users was 0.303 (95% CI, 0.135 to 0.682), and that for RAS blockade users was 0.811 (95% CI, 0.391 to 1.682). Conclusion This study suggests that DPP-4i is significantly associated with a better clinical outcome of patients with COVID-19.

Background: Dipeptidyl peptidase-4 inhibitor (DPP-4i) and renin-angiotensin system (RAS) blockade are reported to affect the clinical course of coronavirus disease 2019 (COVID-19) in patients with diabetes mellitus (DM). Methods: As of May 2020, analysis was conducted on all subjects who could confirm their history of claims related to COVID-19 in the National Health Insurance Review and Assessment Service (HIRA) database in Korea. Using this dataset, we compared the short-term prognosis of COVID-19 infection according to the use of DPP-4i and RAS blockade. Additionally, we validated the results using the National Health Insurance Service (NHIS) of Korea dataset. Results: Totally, data of 67,850 subjects were accessible in the HIRA dataset. Of these, 5,080 were confirmed COVID-19. Among these, 832 subjects with DM were selected for analysis in this study. Among the subjects, 263 (31.6%) and 327 (39.3%) were DPP4i and RAS blockade users, respectively. Thirty-four subjects (4.09%) received intensive care or died. The adjusted odds ratio for severe treatment among DPP-4i users was 0.362 (95% confidence interval [CI], 0.135 to 0.971), and that for RAS blockade users was 0.599 (95% CI, 0.251 to 1.431). These findings were consistent with the analysis based on the NHIS data using 704 final subjects. The adjusted odds ratio for severe treatment among DPP-4i users was 0.303 (95% CI, 0.135 to 0.682), and that for RAS blockade users was 0.811 (95% CI, 0.391 to 1.682). Conclusion This study suggests that DPP-4i is significantly associated with a better clinical outcome of patients with COVID-19.

Metabolic acidosis (MA) is associated with increased proteolysis, increased osteoclast activity and blunted cardiac muscle response, but the effect of MA on various clinic al parameters in CAPD patients is not well known. To evaluate the effects of MA on serum albumin level and other nutritional parameters in CAPD patients, we studied 106 CAPD patients retrospectively who have had monthly biochemical measurement and urea kinetic studies every 6 months for more than 2 years. The patients were divided into three groups according to their mean total CO2 (tCO2) level of the 2-year follow-up (Group l; mean tCO2 < 22mM/L, Group ll; 22mM/L < or = mean tCO2 < 26mM/L, and Group lll; mean tCO2 > or = 26mM/L), and the clinical, biochemical, and urea kinetic data were compared among the three groups. 1)The mean age of the subjects was 46.9+/-12.2 years with a sex ratio of 1.2:1, the mean CAPD duration 28.3+/-21.8 months, mean body weight (Bwt) 59.0+/-8.9kg, %Bwt/IBW 104.1+/-11.5%, %LBM/Bwt 75.5+/-11.1% and well-nourished patients by subjective global assessment (SGA) were 65%. 2)The mean BUN, creatinine, total protein and albumin of all patients were 55.6+/-13.6mg/dL, 12.3+/-3.5mg/dL, 6.6+/-0.7g/dL and 4.0+/-0.4g/dL, respectively. In urea kinetic study, the mean NPCR, weekly Kt/ Vurea, SCCr and RRF were 0.96+/-0.16g/kg/day, 2.02+/-0.37, 63.7+/-18.4L/week/1.73m2, and 0.99+/-1.32ml/ min, respectively. 3)The mean age was significantly higher in group l (51.0+/-10.8) than those of group ll (47.0+/-12.4) and lll (42.6+/-11.4) (P<0.05). %Bwt/IBW of group l (114.4+/-15.8%) was also significantly higher than those of group ll (104.6+/-12.6%) and lll (103.5+/-13.7 %) (P<0.05), but there were no significant differences in sex ratio, CAPD duration, %LBM/Bwt, and SGA among the three groups. 4)The mean tCO2 in group l, group ll, and group lll were 20.6+/-1.2mM/L, 23.9+/-1.1mM/L, and 27.3+/-0.8mM/L, respectively. Compared to group lll, group l had significantly higher BUN (61.1+/-14.3 vs. 46.1+/-7.2mg/dL, P<0.05) and serum albumin (4.04+/-0.31 vs. 3.75+/-0.39g/dL, P<0.05), in spite of comparable dialysis dose and albumin loss into dialysate. 5)NPCR (1.02+/-0.21g/kg/day vs. 0.88+/-0.14g/kg/ day, P<0.05) and ultrafiltration volume (1.4+/-0.4 vs. 1.0+/-0.3, P<0.05) were significantly higher in group l than those of group lll. But there were no significant differences in Kt/Vurea, SCCr, RRF, and 24-hour dialysate loss of protein/albumin among the three groups. 6)No differences were observed among the three groups in the changes of body weight, %Bwt/IBW, %LBM/Bwt, BUN, albumin, NPCR, and RRF from the baseline values after the 2-year follow-up. 7)There were significant inverse correlations between the mean tCO2 level and NPCR (r=-0.33, P<0.001), %Bwt/IBW (r=-0.32, P<0.001), RRF (r=-0.29, P<0.005), and serum albumin level (r=-0.24, P<0.05). But, creatinine, %LBM/Bwt, and Kt/Vurea did not show any correlation with the mean tCO2 level. 8)Using stepwise multiple regression analysis, NPCR (beta=-0.3491, P<0.001), %Bwt/IBW (beta=-0.046, P<0.001), and ultrafiltration volume (beta=-0.0012, P< 0.005) were independent factors affecting the mean tCO2 level. In conclusion, low total CO2 level in long-term CAPD patients may reflect increased protein intake and mild to moderate degree of metabolic acidosis may not affect the nutritional status of well-dialyzed CAPD patients.
Acidosis* ; Body Weight ; Creatinine ; Dialysis ; Follow-Up Studies ; Humans ; Myocardium ; Nutritional Status ; Osteoclasts ; Peritoneal Dialysis, Continuous Ambulatory* ; Proteolysis ; Retrospective Studies ; Serum Albumin* ; Sex Ratio ; Ultrafiltration ; Urea

A 41-year-old man was admitted due to altered mentality and confusion. He had showed progressive cerebellar ataxia, dysarthria, gait disturbance from his age of 33 years old. Brain MRI revealed high signal lesions in periaqueductal gray matter, mammillary bodies, median thalami and postcentral gyri bilaterally on T2-weighted images. Severe cerebellar atrophy was noted, too. We report a case of Wernicke's encephalopathy in a patient with probable multiple system atrophy. As far as we know, there have been no published report on this kind of case.
Adult ; Atrophy ; Brain ; Cerebellar Ataxia ; Dysarthria ; Gait ; Humans ; Magnetic Resonance Imaging ; Mamillary Bodies ; Multiple System Atrophy* ; Periaqueductal Gray ; Wernicke Encephalopathy*