• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.69-77
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• 2018

Pregnancy and delivery pose a high risk of developing metabolic decompensation in women with defects of ketone body metabolism. In this review, the available reported cases in pregnancy are summarized. It is very important to properly manage women with defects of ketone body metabolism during pregnancy, especially nausea and vomiting in the first trimester of pregnancy, and during labor and delivery. Pregnant women with deficiencies of HMG-CoA lyase or succinyl-CoA:3-ketoacid CoA transferase (SCOT) often experience metabolic decompensations with nausea and vomiting of pregnancy, often requiring hospitalization. For successful delivery and to reduce stresses, vaginal delivery with epidural anesthesia or elective cesarean delivery with epidural or spinal anesthesia are recommended for women with HMG-CoA lyase and SCOT deficiency. In beta-ketothiolase deficiency, four pregnancies in three patients had favorable outcomes without severe metabolic problems.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.21-30
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• 2023

Inherited metabolic disorders (IMD) are a group of disorders caused by defects in specific biochemical pathways. Up to 85% of IMD display predominantly neurological manifestations by affecting neurodevelopment or causing neurodegeneration. These neurometabolic disorders present with a variety of neurological and non-neurological manifestations. Early diagnosis of IMD is important because some disorders can be treated or improved with specific treatment if detected early. For prompt diagnosis and treatment, it is important to suspect IMD by being familiar with the clinical characteristics, biochemical abnormalities, and characteristic neuroimaging patterns that appear in IMD. Genetic testing, including next-generation sequencing, is also important in diagnosing IMD. During the follow-up of patients with IMD, it is necessary to conduct regular physical and neurological examinations in addition to disease-specific management.

• Journal of Trauma and Injury
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• v.32 no.4
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• pp.238-242
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• 2019

Extreme acidosis is a life-threatening physiological state that causes disturbances in the cardiovascular, pulmonary, immune, and hematological systems. Trauma patients commonly present to the operating room (OR) in hypovolemic shock, leading to tissue hypoperfusion and the development of acute metabolic acidosis with or without a respiratory component. It is often believed that trauma patients presenting to the OR in severe metabolic acidosis (pH <7.0) will have a nearly universal mortality rate despite aggressive resuscitation and damage control. The current literature does not include reports of successful resuscitations from a lower pH, which may lead providers to assume that a good outcome is not possible. However, here we describe a case of successful resuscitation from an initial pH of 6.5 with survival to discharge home 95 days after admission with almost full recovery. We describe the effects of acute acidosis on the respiratory and cardiovascular systems and hemostasis. Finally, we discuss the pillars of management in patients with extreme acute acidosis due to hemorrhage: transfusion, treatment of hyperkalemia, and consideration of buffering acidosis with bicarbonate and hyperventilation.

• Journal of the Korean Magnetic Resonance Society
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• v.14 no.1
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• pp.28-37
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• 2010

Metabolites of urine samples from 6 colorectal cancer patients were analyzed by two-dimensional NMR spectroscopy, where the samples were collected before and after the surgical treatments per patient. NMR data were analyzed with the help of the metabolome database and the statistics software. Urine samples before and after the treatments showed significantly different metabolic profiles from each other. We were able to compare 10 different metabolites. Most of the assigned metabolites of every patient showed a tendency of increase after the surgery except for a few cases. The amount of changes in individual metabolites varied significantly from patient to patient, but the combination of such changes could be used to distinguish the condition before the surgery from after, which could be done by PCA analysis. The analysis via $^{1}H-^{13}C$ HSQC spectra proved to be applicable in assessing and classifying global metabolic profiles of the urines from colorectal cancer patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• The Journal of the Korea Contents Association
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• v.20 no.10
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• pp.401-410
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• 2020

This study is to conduct a 12-month f/u survey on changes of metabolic syndrome (MetS) components according to the resting heart rate (RHR) in patients with essential hypertension (HTN) without cardiovascular disease (CVD) complication. We used the KorHR (Korean Hypertension Registry) data and a total of 951 subjects were analyzed using the R statistical program. As a result of this study, it was found that the risk and changes of MetS components differs according to the RHR group with first and revisit hypertensive patients. Therefore, guidelines for customized RHR control for first and revisit hypertensive patients should be prepared. Also, it is necessary to prepare various interventions to control the RHR. Through this, it is intended to prevent the occurrence of CVD caused by HTN, which is a representative chronic disease, to improve the quality of life of patients and their families as well as to contribute to increasing the efficiency in the health care.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.8
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• pp.4847-4851
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• 2013

Objectives: To evaluate accuracy of FDG-PET CT in prediction of persistent disease in head and neck cancer cases and to determine prognostic value of metabolic tumor response. Materials and Methods: Between 2009 and 2011, 46 patients with squamous cell carcinoma of head and neck receiving PET-CT were treated with definitive radiotherapy, with or without chemotherapy. There were 29 nasopharyngeal, 11 hypopharyngeal, 3 oropharyngeal and 3 laryngeal cancer patients, with a median age of 50.5 years (range 16-84), 32 males and 14 females. All patients were evaluated with PET-CT median 3-5 months (2.4-9.4) after completion of radiotherapy. Results: After a median 20 months of follow up, complete metabolic response was observed in 63% of patients. Suspicious residual uptake was present in 10.9% and residual metabolic uptake in 26.0% of patients. The overall sensitivity, specificity, positive predictive value and negative predictive value of FDG-PET-CT for detection of residual disease was 91% and 81%, 64% and 96% respectively. Two year LRC was 95% in complete responders while it was 34% in non-complete responders. Conclusions: FDG PET CT is a valuable tool for assessment of treatment response, especially in patients at high risk of local recurrence, and also as an indicator of prognosis. Definitely more precise criteria are required for assessment of response, there being no clear cut uptake value indicating residual disease. Futhermore, repair processes of normal tissue may consume glucose which appear as increased uptake in control FDG PET CT.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Health Policy and Management
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• v.27 no.1
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• pp.47-55
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• 2017

Background: This study purposed to analyze the effects of metabolic syndrome on the total medical charge of patients. Methods: 2013 National Health Insurance Service sample research database (eligibility database, medical database, and health examination database) was used for this study. Gamma regression was applied to analyze the effects of metabolic syndrome on the total medical charge and logistic regression was used to determine the probability of medical charge which was higher than the third quartile. Sociodemographic characteristics (age and household income), health behavior factors (smoking, drinking, exercise, and body mass index), and disease related factors (family history and metabolic syndrome) were included as the independent variables. Results: people who had metabolic syndrome spent more medical expenses than those without metabolic syndrome both in man and woman group. The standard regression coefficient was 0.09 (p< 0.001) in man with metabolic syndrome and 0.16 (p< 0.001) in woman. In addition, woman with metabolic syndrome spent more than the third quartile of medical charge. The odds ratios was 1.04 (p= 0.16) for man with metabolic syndrome and 1.18 (p= 0.013) for woman. Conclusion: people with metabolic syndrome spent more medical charge, so it will need to consider policy interventions for preventing the incidence and management of metabolic syndrome in Korean people.

• The Journal of the Korea institute of electronic communication sciences
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• v.8 no.12
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• pp.1941-1948
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• 2013

This study aims discover the relations between health promotion behaviors and metabolic syndrome in daytime workers, in order to present importance for health promotion behaviors of patients with metabolic syndrome. Based on Year 1 data of the 5th Korean National Health Nutrition Examination Survey, emrolled were 1,034 daytime workers. This study discovered that the prevalence rate of metabolic syndrome of the Korean daytime workers was significantly higher as they got older, they had less education level and smoking more, increasing number of health promotion practice behavior were decrease the metabolic syndrome prevalence. Effective appropriate lifestyle intervention were considered to management and prevention of daytime workers with the metabolic syndrome for low-cost and efficiently.