• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.18-24
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• 2015

Glycogen storage disease type Ib (GSD Ib) is one of the rare inherited metabolic disease caused by mutation of SLC37A4 gene. Clinical characteristics include hepatomegaly, hypoglycemia, lactic acidosis, hyperlipidemia and high serum uric acid concentration. The authors analyzed clinical and molecular characteristics of three Korean patients (one male and two females) with GSD Ib by retrospective review of medical records. Two patients were diagnosed in toddler period by hypoglycemia and hepatomegaly. One patient was diagnosed by growth retardation and short stature in puberty. c.412T>C (p.Trp138Arg) (3/6 alleles, 50.0%) was most frequently observed, following by p.Leu348Valfs*53 (1 allele), p.Pro191Leu (1 allele), p.Ala148Val (1 allele) in molecular analysis. Uncooked corn starch and allopurinol was administered. Because all three patients had neutropenia and recurrent infections, G-CSF was administered. Two patients had severe osteoporosis needing calcium supplement. The patient who diagnosed at puberty had relatively poor prognosis demonstrated by having severe infection and complications in liver and kidney.

• Journal of The Korean Society of Clinical Toxicology
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• v.19 no.2
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• pp.72-82
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• 2021

Purpose: A high anion gap (AG) is known to be a significant risk factor for serious acid-base imbalances and death in acute poisoning cases. The strong ion difference (SID), or strong ion gap (SIG), has recently been used to predict in-hospital mortality or acute kidney injury (AKI) in patients with systemic inflammatory response syndrome. This study presents a comprehensive acid-base analysis in order to identify the predictive value of the SIG for disease severity in severe poisoning. Methods: A cross-sectional observational study was conducted on acute poisoning patients treated in the emergency intensive care unit (ICU) between December 2015 and November 2020. Initial serum electrolytes, base deficit (BD), AG, SIG, and laboratory parameters were concurrently measured upon hospital arrival and were subsequently used along with Stewart's approach to acid-base analysis to predict AKI development and in-hospital death. The area under the receiver operating characteristic curve (AUC) and logistic regression analysis were used as statistical tests. Results: Overall, 343 patients who were treated in the intensive care unit were enrolled. The initial levels of lactate, AG, and BD were significantly higher in the AKI group (n=62). Both effective SID [SIDe] (20.3 vs. 26.4 mEq/L, p<0.001) and SIG (20.2 vs. 16.5 mEq/L, p<0.001) were significantly higher in the AKI group; however, the AUC of serum SIDe was 0.842 (95% confidence interval [CI]=0.799-0.879). Serum SIDe had a higher predictive capacity for AKI than initial creatinine (AUC=0.796, 95% CI=0.749-0.837), BD (AUC=0.761, 95% CI=0.712-0.805), and AG (AUC=0.660, 95% CI=0.607-0.711). Multivariate logistic regression analyses revealed that diabetes, lactic acidosis, high SIG, and low SIDe were significant risk factors for in-hospital mortality. Conclusion: Initial SIDe and SIG were identified as useful predictors of AKI and in-hospital mortality in intoxicated patients who were critically ill. Further research is necessary to evaluate the physiological nature of the toxicant or unmeasured anions in such patients.

• Journal of Electrodiagnosis and Neuromuscular Diseases
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• v.20 no.2
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• pp.106-111
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• 2018

Transcranial magnetic stimulation (TMS) has been a gold standard for investigating central motor pathways in humans. Diffusion tensor imaging with fiber tractography (DTI FT) is known for its usefulness in detecting white matter lesion in vivo. We investigated the clinical usefulness of elucidating the integrity and continuity of corticospinal tract (CST) by combined use of TMS and DTI FT in this study. We report two cases who have presented with left hemiparesis and evaluated by both TMS and DTI FT; 10-year-old boy with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode syndrome and 20-year-old woman with traumatic brain injury. Combined use of TMS and DTI FT successfully led to localize the brain lesion that might cause motor impairment in patients with abnormal signal intensities in MRI. The results of this study suggest that TMS and DTI FT might provide the detailed information between function and anatomy of the CST, complementarily.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.17-24
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• 2023

Purpose: In the past, detection of metabolic abnormalities in plasma amino acid (PAA) and urine organic acid (UOA) has been widely used to diagnose clinical mitochondrial diseases, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). In this study, the diagnostic values of PAA and UOA were reviewed, and their effectiveness in the diagnosis of MELAS was examined retrospectively. Methods: Blood and urine samples at the time of diagnosis were collected from all clinically diagnosed MELAS patients (n=31), and PAA and UOA tests were performed. All samples were collected in a fasting state to minimize artifacts in the results. The difference in the ratio of abnormal metabolites of PAA and UOA at initial diagnosis was statistically compared between the MELAS with genetic confirmation (n=19, m.3243A>G mutation) and MELAS without genetic confirmation (n=12) groups. The MELAS without genetic confirmation group was used as control. Results: Comparison of PAA and UOA between the two groups revealed that no abnormal metabolites showed characteristic differences between gene-confirmed MELAS patients with and those without genetic confirmation. Conclusions: Abnormal values of metabolites in PAA or UOA might be useful as a screening test but are not sufficient to diagnose MELAS patients.

• Tuberculosis and Respiratory Diseases
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• v.60 no.5
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• pp.548-553
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• 2006

Background : Alcoholic ketoacidosis(AKA) is a metabolic disturbance that is caused by prolonged and excessive alcohol consumption. Though the prognosis is reportedly good, its outcome is unclear in some cases that are combined with multi-organ failure. There are few reports of an analysis of cases admitted to an intensive care unit(ICU) Method: Cases of AKA admitted to the ICU over the last 5 years were retrospectively analyzed. Severe AKA was characterized by multi-organ failure that required treatment in an ICU Results : All patients were males with a history of excessive alcohol consumption. Five of them (50%) mainly complained of gastrointestinal symptoms (nausea, vomiting, diarrhea), showing metabolic acidosis with an increased asmolar and anion gap. Rhabdomyolysis with acute renal failure was the most common combined organ failure. Mechanical ventilation was performed in 80%. Six patients died and 4 patients survived. In the surviving patients, the arterial blood gas analysis(ABGA) was normalized within 12 hours after admission. Conclusion : In severe AKA patients, rhabdomyolysis with acute renal failure was the most common complication. The mortality rate was high and death from shock occurred within 3 days.

• Journal of Chest Surgery
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• v.33 no.6
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• pp.445-468
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• 2000

Background: Retrograde cerebral perfusion(RCP) is currently used for brain protection during aorta surgery, however, for the safety of it, various data published so far are insufficient. We performed RCP using pig and investiaged various parameters of cerebral metabolism and brain injury after RCP under deep hypothermia. Material and Method: We used two experimental groups: in group I(7 pigs, 20 kg), we performed RCP for 120 minutes and in group II (5 pigs, 20 kg), we did it for 90 minutes. Nasopharyngeal temperature, jugular venous oxygen saturation, electroencephalogram were continuously monitored, and we checked the parameters of cerebral metabolism, histological changes and serum levels of neuron-specific enolose(NSE) and lactic dehydrogenase(LDH). Central venous pressure during RCP was mainained in the range of 25 to 30 mmHg. Result: Perfusion flow rates(ml/min) during RCP were 130$\pm$57.7(30 minutes), 108.6$\pm$55.2(60 minutes), 107.1$\pm$58.8(90 minutes), 98.6$\pm$58.7(120 minutes) in group I and 72$\pm$11.0(30 minutes), 72$\pm$11.0(60 minutes), 74$\pm$11.4(90 minutes) in group II. The ratios of drain flow to perfusion flow were 0.18(30 minutes), 0.19(60 minutes), 0.17(90 minutes), 0.16(120 minutes) in group I and 0.21, 0.20, 0.17 in group II. Oxygen consumptions(ml/min) during RCP were 1.80$\pm$1.37(30 minutes), 1.72$\pm$1.23(60 minutes), 1.38$\pm$0.82(90 minutes), 1.18$\pm$0.67(120 minutes) in group I and 1.56$\pm$0.28(30 minutes), 1.25$\pm$0.28(60 minutes), 1.13$\pm$0.26(90 minutes). We could observe an decreasing tendency of oxygen consumption after 90 minutes of RCP in group I. Cerebrovascular resistance(dynes.sec.cm-5) during RCP in group I incrased from 71370.9$\pm$369145.5 to 83920.9$\pm$49949.0 after the time frame of 90 minutes(p<0.05). Lactate(mg/min) appeared after 30 minutes of RCP and the levels were 0.15$\pm$0.07(30 minutes), 0.18$\pm$0.10(60 minutes), 0.19$\pm$0.19(90 minutes), 0.18$\pm$0.10(120 minutes) in group I and 0.13$\pm$0.09(30 minutes), 0.19$\pm$0.03(60 minutes), 0.29$\pm$0.11(90 minutes) in group II. Glucose utilization, exudation of carbon dioxide, differences of cerebral tissue acidosis between perfusion blood and drain blood were maintained constantly during RCP. Oxygen saturation levels(%) in drain blood during RCP were 22.9$\pm$4.4(30 minutes), 19.2$\pm$4.5(60 minutes), 17.7$\pm$2.8(90 minutes), 14.9$\pm$2.8(120 minutes) in group I and 21.3$\pm$8.6(30 minutes), 20.8$\pm$17.6(60 minutes), 21.1$\pm$12.1(90 minutes) in group II. There were no significant changes in cerebral metabolic parameters between two groups. Differences in serum levels of NSE and LDH between perfusion blood and drain blood during RCP showed no statistical significance. Serum levels of NSE and LDH after resuming of cardipulmonary bypass decreased to the level before RCP. Brain water contents were 0.73$\pm$0.03 in group I and 0.69$\pm$0.06 in group II and were higher than those of the controls(p<0.05). The light microscopic findings of cerebral neocortex, basal ganglia, hippocampus(CA1 region) and cerebellum showed no evidence of cerebral injury in two groups and there were no different electron microscopy in both groups(neocortex, basal ganglia and hippocampus), but they were thought to be reversible findings. Conclusion: Although we did not proceed this study after survival of pigs, we could perform the RCP successfully for 120 minutes with minimal cerebral metabolism and no evidence of irreversible brain damage. The results of NSE and LDH during and after RCP should be reevaluated with survival data.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.