• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.52-56
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• 2016

Propionic acidemia (PA) is a rare autosomal recessive metabolic disease caused by the deficiency of propionyl-CoA carboxylase (PCC). PA affects the catabolism of branched chain amino acid and oddchain fatty acid then results in accumulation of propionic acid and other metabolites in plasma and urine. Catabolic stress such as infection, illness or any stress can precipitate cause acute metabolic decompensation, especially in the first years of life. Acute metabolic decompensation commonly calls for emergency treatment or admission and if the patient is in a serious condition, it can lead to coma or death. But frequent admissions or visiting the emergency room are much burden to the patients and their kins. And we experienced the propionic academia with a confirmed novel mutation and the patient suffered from frequent admission and visiting the emergency room. So, we tried the regular home carebased fluid therapy after securing a central venous line. Finally, we succeeded in preventing frequent admissions resulted from acute metabolic decompensation and could contribute to relieving the burden to the patient and their family.

• Journal of the Korean Society of Food Science and Nutrition
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• v.15 no.4
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• pp.72-80
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• 1986

The purpose of this study was to investigate the dietary-intake and that of health by mean of questionarie and interview for male and female old persons living in Seoul area. The contents of study included general aspects, physical status and health, nutrient intake, and food intake frequency. The results from the above survey are summarized as follows ; 1. The age group in the range of 60 to 79 years old was 71%, and the average number of family was 4.9. The educational level was 56% of elderly persons were elementary or middle school graduates . 42.8% of elderly persons had an average monthly income of \490,000 to 300,000. 2. The aged average height, weight, and physical index were 164.9cm, 55.8kg and 20.4 in male, 152.7cm, 46.0kg and 20.3 in female which were lower than the Korean average standard. (male; 167.0cm, 61.0kg, female; 156.0cm, 55.0kg) In the degree of health self-consciousness, percentage distribution of poor and very poor was 29% in male, 59% in female. Among the condition of disease, neuralgia was 23.8%, hypertension was 17.2%, diabetes was 5.4%. 3. Average daily calorie intake was $63.9{\sim}70.4%$ for male and $76.4{\sim}83.9%$ for female which were lower than the Recommended Dietary Allowances for Koreans. Protein intake was $42.9{\sim}57.3g$ (which was $72.8{\sim}82.6%$ RDA) for elderly person, the proportion of animal protein to total protein intake were $24.3{\sim}28.2%$($12.9{\sim}16.2g$). Iron, Vitamin $B_1$, $B_2$ Niacin intake exceeded the RDA, but the intake of Calcium, Vitamin C were far less than that of RDA. 4. In the correlations between nutritional intakes and environmental factors and health, economic living situations and educational level as the factors which might influence the condition of nutritional intake was significant(P<0.01). 5. Food intake frequency of meats, fishes, eggs, for average of $1{\sim}2$ days per week were $44.8{\sim}50.5%$, that of milk and milk products for scarecely week were 42.9.% Correlation of food intake frequency was divided three levels-good, fair, poor. Food intake frequency as the factors which might influence the condition of nutritional intake was significant(P<0.01). The results of the survey reveal that many of elderly show evidence of general nutrient intake deficiency, it requires first of all importance of nutrition to improve nutritional level through to promotion of elderly health.

• The Korean Society of Law and Medicine
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• v.17 no.2
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• pp.257-279
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• 2016

Recently, the Well-dying Act was legislated in Korea, and it will come into effect in August 4, 2017. This Act allows to withdraw the life sustaining treatment from impending death patients and also provide the hospice and palliative treatment to terminal patients. In the Supreme Court's case so called "Madam Kim", medical condition of Madam Kim was a persistent vegetative status owing to brain damage and her family members wanted to remove the artificial ventilation. In 2009, the Supreme Court allowed to withdraw the artificial ventilation under the specific conditions. We applied this new Well-dying Act to the Madam Kim's case hypothetically in order to know this Act can reasonably solve the problem of life sustaining treatment for dying or terminal patients. For the impending patients, the Well-dying Act has the problem not to withdraw the futile treatment due to the advance directives of patients. Vice versa, the terminal patients have no chance to withdraw the life sustaining treatment due to the this Act impose the duty to provide the hospice and palliative treatment despite of advance directives. We need to ruke out the persistent vegetative patients from the terminal patients caused by the cancer, acquired immune deficiency syndrome, chronic obstructive lung disease and chronic liver cirrhosis, In addition, we have to discuss the effect of the advance directives of terminal patients in view of self determination right.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.9-17
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• 2015

Glycogen storage disease (GSD) type Ia is rare inborn metabolic disorder, caused by glucose-6-phosphatase deficiency. It characterized by hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, and hyperuricemia and it is usually manifested in the infantile period. In addition, it is also associated with growth failure, pubertal delay, anemia, platelet dysfunction, osteopenia, and pulmonary hypertension. Hepatocellular adenoma and renal dysfunction are frequent late complications. Delayed diagnosis and inappropriate therapy lead to many complications such as growth failure, osteoporosis, refractory gout, renal failure, hepatocellular carcinoma (HCC), and pulmonary hypertension. Here, two Korean sisters diagnosed with GSD Ia, aged 33 and 36 respectively, were described and compared to recent articles about four adults with late diagnosis of GSD Ia. One sister had typical manifestations of GSD Ia including short stature (height, 145 cm), multiple hepatic adenoma, chronic kidney disease stage IV, and severe osteoporosis, whereas the older sister had normal stature (162 cm), one tiny hepatic nodule, and normal renal function. Direct sequencing of G6PC in two sisters identified a homozygous splicing mutation, c.645G>T, which is a prevalent mutation in Korea. Interestingly, our cases and four adults from recent reports had asymptomatic mild hypoglycemia and various manifestations including renal failure, HCC, fatty liver, or uncontrolled hyperlipidemia. These adult cases represent not only heterogenous phenotype to genotype within family members with GSD Ia but also long-term complications such as gouty arthritis, renal failure, and osteoporosis in untreated adult GSD Ia patients. In addition, lactic academia and hypertriglyceridemia are good markers of GSD Ia to distinguish from metabolic disease.

• Annals of Geriatric Medicine and Research
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• v.22 no.4
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• pp.167-175
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• 2018

Sarcopenia, a common clinical syndrome in older adults, is defined as decreased muscle mass, strength, and physical performance. Since sarcopenia is associated with the incidence of functional decline, falls, and even mortality in older adults, researchers and health care providers have been keen to accumulate clinical evidence to advocate the screening and prevention of sarcopenia progression in older adults. The factors that may accelerate the loss of muscle mass and function include chronic diseases, inactivity, and deficiency in appropriate nutritional support. Among these, nutritional support is considered an initial step to delay the progression of muscle wasting and improve physical performance in community-dwelling older adults. However, a nationwide study suggested that most Korean older adults do not consume sufficient dietary protein to maintain their muscle mass. Furthermore, considering age-associated anabolic resistance to dietary protein, higher protein intake should be emphasized in older adults than in younger people. To develop a dietary protein recommendation for older adults in Korea, we reviewed the relevant literature, including interventional studies from Korea. From these, we recommend that older adults consume at least 1.2 g of protein per kg of body weight per day (g/kg/day) to delay the progression of muscle wasting. The amount we recommend (1.2 g/kg/day) is 31.4% higher than the previously suggested recommended daily allowance (i.e., 0.91 g/kg/day) for the general population of Korea. Also, evidence to date suggests that the combination of exercise and nutritional support may enhance the beneficial effects of protein intake in older adults in Korea. We found that the current studies are insufficient to build population-based guidelines for older adults, and we call for further researches in Korea.

• Biomolecules & Therapeutics
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• v.30 no.3
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• pp.246-256
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• 2022

The present study focused on the potential mechanism of betulin (BT), a pentacyclic triterpenoid isolated from the bark of white birch (Betula pubescens), against chronic alcohol-induced lipid accumulation and metaflammation. AML-12 and RAW 264.7 cells were administered ethanol (EtOH), lipopolysaccharide (LPS) or BT. Male C57BL/6 mice were fed Lieber-DeCarli liquid diets containing 5% EtOH for 4 weeks, followed by single EtOH gavage on the last day and simultaneous treatment with BT (20 or 50 mg/kg) by oral gavage once per day. In vitro, MTT showed that 0-25 mM EtOH and 0-25 µM BT had no toxic effect on AML-12 cells. BT could regulate sterolregulatory-element-binding protein 1 (SREBP1), lipin1/2, P2X7 receptor (P2X7r) and NOD-like receptor family, pyrin domains-containing protein 3 (NLRP3) expressions again EtOH-stimulation. Oil Red O staining also indicated that BT significantly reduced lipid accumulation in EtOH-stimulated AML-12 cells. Lipin1/2 deficiency indicated that BT might mediate lipin1/2 to regulate SREBP1 and P2X7r expression and further alleviate lipid accumulation and inflammation. In vivo, BT significantly alleviated histopathological changes, reduced serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) and triglyceride (TG) levels, and regulated lipin1/2, SREBP1, peroxisome proliferator activated receptor α/γ (PPARα/γ) and PGC-1α expression compared with the EtOH group. BT reduced the secretion of inflammatory factors and blocked the P2X7r-NLRP3 signaling pathway. Collectively, BT attenuated lipid accumulation and metaflammation by regulating the lipin1/2-mediated P2X7r signaling pathway.

• Journal of Korean Neurosurgical Society
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• v.65 no.6
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• pp.790-800
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• 2022

Objective : EID3 (EP300-interacting inhibitor of differentiation) was identified as a novel member of EID family and plays a pivotal role in colorectal cancer development. However, its role in glioma remained elusive. In current study, we identified EID3 as a novel oncogenic molecule in human glioma and is critical for glioma cell survival, proliferation and invasion. Methods : A total of five patients with glioma were recruited in present study and fresh glioma samples were removed from patients. Four weeks old male non-obese diabetic severe combined immune deficiency (NOD/SCID) mice were used as transplant recipient models. The subcutaneous tumor size was calculated and recorded every week with vernier caliper. EID3 and AMP-activated protein kinase α1 (AMPKα1) expression levels were confirmed by real-time polymerase chain reaction and Western blot assays. Colony formation assays were performed to evaluate cell proliferation. Methyl thiazolyl tetrazolium (MTT) assays were performed for cell viability assessment. Trypan blue staining approach was applied for cell death assessment. Cell Apoptosis DNA ELISA Detection Kit was used for apoptosis assessment. Results : EID3 was preferentially expressed in glioma tissues/cells, while undetectable in astrocytes, neuronal cells, or normal brain tissues. EID3 knocking down significantly hindered glioma cell proliferation and invasion, as well as induced reduction of cell viability, apoptosis and cell death. EID3 knocking down also greatly inhibited tumor growth in SCID mice. Knocking down of AMPKα1 could effectively rescue glioma cells from apoptosis and cell death caused by EID3 absence, indicating that AMPKα1 acted as a key downstream regulator of EID3 and mediated suppression effects caused by EID3 knocking down inhibition. These findings were confirmed in glioma cells generated patient-derived xenograft models. AMPKα1 protein levels were affected by MG132 treatment in glioma, which suggested EID3 might down regulate AMPKα1 through protein degradation. Conclusion : Collectively, our study demonstrated that EID3 promoted glioma cell proliferation and survival by inhibiting AMPKα1 expression. Targeting EID3 might represent a promising strategy for treating glioma.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.22-27
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• 2021

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

• The Journal of the Society of Stroke on Korean Medicine
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• v.11 no.1
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• pp.26-35
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• 2010

Objective : The aim of this study was to examine the characteristics of the acute stroke patient who take Gwakhyangjeonggisan, and provide the basis of Gwakhyangjeonggisan prescription Method : We studied hospitalized patients within 4 weeks after their ictus who were admitted at Kyunghee University Oriental Medical Center, Kyunghee University East-West Neo Medical Center, Kyungwon University Oriental Medical Center, Semyung University Oriental Medical Center from February 2010 to July 2010 We compared the general characteristics of acute stroke patient according to herb medicine Result : The patient who take Gwakhyangjeonggisan show significant difference for sex, family history of Stroke, Face color, Tongue color, Pulse condition, HDL Cholesterol, Fastfood eating, Waist circumference. Conclusion : The above result show that Gwakhyangjeonggisan can be prescribed to stroke patient whose complaining gastrointestinal symptoms, & Oriental Medical Diagnosis is Cold & Deficiency type. Further studies will be needed to better understand the difference between Gwakhyangjeonggisan group and Other herb medicine among acute stroke patients.

• Journal of Life Science
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• v.33 no.6
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• pp.455-462
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• 2023

During pregnancy, maternal immune activation (MIA) from infection increases the risk of neurodevelopmental diseases, including schizophrenia and autism spectrum disorders. MIA induced by polyinosinic-polycytidylic acid (poly (I:C)) and lipopolysaccharide (LPS) in animal experiments has led to offspring with abnormal behaviors and brain development. In addition, it has recently been reported that microglia, which reside in the brain and function as immune cells, play an important role in behavioral abnormalities and brain development in MIA-induced offspring. However, the underlying mechanism remains unclear. In this study, we investigated whether microglia-specific inhibition of GPR56, a member of the G protein-coupled receptor (GPCR) family, causes behavioral abnormalities in brain development. First, MIA induction did not affect the microglia population, but when examining the expression of microglial GRP56 in MIA-induced fetuses, GPR56 expression was inhibited between embryonic days 14.5 (E14.5) and E18.5 regardless of sex. Furthermore, microglial GPR56-suppressed mice showed abnormal behaviors in the MIA-induced offspring, including sociability deficits, repetitive behavioral patterns, and increased anxiety levels. Although abnormal cortical development such as that in the MIA-induced offspring were not observed in the microglial GPR56-suppressed mice, their brain activity was observed through c-fos staining. These results suggest that microglia-specific GPR56 deficiency may cause abnormal behaviors and could be used as a biomarker for the diagnosis and/or as a therapeutic target of behavioral deficits in MIA offspring.