Cho, Jin Min;Lee, Beom Hee;Kim, Gu-Hwan;Kim, Yoo-Mi;Choi, Jin-Ho;Yoo, Han-Wook
Clinical and Experimental Pediatrics
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v.56
no.8
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pp.351-354
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2013
Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such as infections. Here, we report the case of a 2-year old boy with IVA who presented with the chronic intermittent form. He was admitted to Asan Medical Center Children's Hospital with recurrent vomiting. Metabolic acidosis, hyperammonemia, elevated serum lactate and isovalerylcarnitine levels, and markedly increased urine isovalerylglycine concentration were noted. Sequence analysis of the IVD gene in the patient revealed the novel compound mutations-a missense mutation, c.986T>C (p.Met329Thr) and a frameshift mutation, c.1083del (p.Ile361fs$^*11$). Following stabilization during the acute phase, the patient has remained in a stable condition on a low-leucine diet.
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.
Park, Jung-Suk;Chung, Sung-Pil;Lee, Han-Shick;Kim, Eui-Chung
Journal of The Korean Society of Clinical Toxicology
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v.5
no.2
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pp.126-130
/
2007
Metformin is antihyperglycemic, not hypoglycemic. It causes neither insulin release from the pancreas nor hypo glycemia, even when taken in large doses. But, there are several reports of metformin-associated lactic acidosis (MALT). We present a case report of severe lactic acidosis most probably resulting from high doses of metformin in a patient with no known contraindications for metformin. A 43-year-old female was admitted to the emergency department due to a metformin overdose. She had diabetes for 6 years, well-controlled with metformin and novolet. One hour before admission, she impulsively took 50g metformin (100 mg or 100 tablets). Physical examination for symptoms revealed only irritability, and laboratory evaluation revealed only mild leukocytosis. After one hour the patient was drowsy, and arterial blood gas analysis showed severe lactic acidemia Seven hours after ED arrival, she commenced hemofiltration treatment and was admitted to the intensive care unit. Continuous venovenous hemodiafiltration was initiated. Forty-eight hours later, full clinical recovery was observed, with return to a normal serum lactate level. The patient was discharged from the intensive care unit on the third day. A progressive recovery was observed and she was discharged from the general word on the thirteenth day.
Jung, Pil Young;Yu, Byungchul;Park, Chan-Yong;Chang, Sung Wook;Kim, O Hyun;Kim, Maru;Kwon, Junsik;Lee, Gil Jae;Korean Society of Traumatology (KST) Clinical Research Group
Journal of Trauma and Injury
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v.33
no.1
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pp.1-12
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2020
Purpose: Despite recent developments in the management of trauma patients in South Korea, a standardized system and guideline for trauma treatment are absent. Methods: Five guidelines were assessed using the Appraisal of Guidelines for Research and Evaluation II instrument. Results: Restrictive volume replacement must be used for patients experiencing shock from trauma until hemostasis is achieved (1B). The target systolic pressure for fluid resuscitation should be 80-90 mmHg in hypovolemic shock patients (1C). For patients with head trauma, the target pressure for fluid resuscitation should be 100-110 mmHg (2C). Isotonic crystalloid fluid is recommended for initially treating traumatic hypovolemic shock patients (1A). Hypothermia should be prevented in patients with severe trauma, and if hypothermia occurs, the body temperature should be increased without delay (1B). Acidemia must be corrected with an appropriate means of treatment for hypovolemic trauma patients (1B). When a large amount of transfusion is required for trauma patients in hypovolemic shock, a massive transfusion protocol (MTP) should be used (1B). The decision to implement MTP should be made based on hemodynamic status and initial responses to fluid resuscitation, not only the patient's initial condition (1B). The ratio of plasma to red blood cell concentration should be at least 1:2 for trauma patients requiring massive transfusion (1B). When a trauma patient is in life-threatening hypovolemic shock, vasopressors can be administered in addition to fluids and blood products (1B). Early administration of tranexamic acid is recommended in trauma patients who are actively bleeding or at high risk of hemorrhage (1B). For hypovolemic patients with coagulopathy non-responsive to primary therapy, the use of fibrinogen concentrate, cryoprecipitate, or recombinant factor VIIa can be considered (2C). Conclusions: This research presents Korea's first clinical practice guideline for patients with traumatic shock. This guideline will be revised with updated research every 5 years.
Journal of The Korean Society of Clinical Toxicology
/
v.8
no.1
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pp.16-23
/
2010
Purpose: Organophosphate insecticide poisoning is common in Korea, but there is no definitive guideline for determining the severity of the poisoning and the predictive factors. Therefore, we evaluated the organophosphate poisoned patients and we divided them into two groups, the survivors and the dead, and the results might be useful for treating organophosphate poisoning patients. Methods: We performed a retrospective analysis of 68 organophosphate poisoned patients who visited the Chosun University Hospital Emergency Medical Center during a 24-month period from January, 2007 to December, 2008. We made a work sheet of the patients' characteristics and the collected data was analyzed and we compared this data between the survivor group and the dead patient group. Results: There were significant differences between the survivor group and the dead patient group for the mean age, the alcohol intake state and the typically expressed signs. The dead patients had lower blood pressure, tachycardia and a lower Glasgo Coma Score (GCS) score than the survivor group. On the arterial blood gas analysis, the dead patients had more severe acidemia and they had lower saturations. Increased serum amylase levels were found in the dead patients. The survivors'initial and follow up serum pseudocholinesterase activity (after 6~8 days) was significantly higher than that of the dead group. The total amount of atropine injected to patient was less in the survivors than that in the dead patients. Conclusion: Old age and expressing the typical intoxication signs, a lower GCS score and blood pressure, showing acidosis on the gas analysis and low serum cholinesterase activity may be useful as poor prognostic indicators for patients with organophosphate poisoning. We suggest that physicians must pay careful attention to the signs and prognostic factors of organophosphate insecticide poisoned patients.
Journal of The Korean Society of Inherited Metabolic disease
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v.14
no.2
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pp.123-134
/
2014
Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis of many of these diseases, if diagnosed early enough before irreversible damage occurs. Diseases of inborn errors of metabolism are so diverse over several hundred disease up to now and may be several thousand in near future, and these diversities of IEMs make clinicians embarassed. The signs of neurological dysfunctions of many IEMs manifesting in the neonatal period is very nonspecific, such as poor feeding, poor sucking, apnea or tachypnea, vomiting, hypertonia, hypotonia, seizure, letharginess, consciousness change and coma. But after neonatal period, the signs of neurological deficits become specific and localized. The results of routine basal laboratory tests such as metabolic acidosis, hyperammonemia, lactic acidemia, ketonemia or hyperuricemia can give very important clinical clues for the diagnosis of IEMs. Even no abnormal findings on routine laboratory test could be very important clue for NKH, sulfite oxidase deficiency and peroxisomal disorders. These various clinical manifestations of these diverse diseases can be categorized and summarized. This makes it essential that the practicing clinicians be familiar with the clinical presentations and symptomatic and systematic approaches of these disorders. Characteristic clinical presentations, methods of symptomatic and systematic approach and typing of various disorders is discussed in this review.
A glycogen storage disease(GSD) type I is a metabolic disease caused by a deficiency in one of the components of the glucose-6-phosphatase(G-6-Pase) system. This disorder results in hypoglycemia, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Comon long(-)term complications include growth retaradation, gout, hepatic adenomas, osteoporosis and renal disease. However the cardiovascular system is rarely involved, and only six cases of pulmonary hypertension associated with GSD I have been reported in the literature. We experienced a case of pulmonary hypertension with type I GSD. A 31-year-old rnan, who had discovered type I GSD and received portocaval shunt operation 22 years ago, was admitted to the hospital with the chief complaint of dyspnea. Echocardiographic examination and cardiac catheterization revealed severe pulmonary hypertension. Nitric oxide and oral prostacycline derivative(beraprost) were tried without acute favorable response. After one year with beraprost, dyspnea, exercise capacity and hemodynamic parameters were improved. We report this case with a review of the literature.
Kang, Jian;Song, Young Joo;Jeon, Sujeong;Lee, Junghwa;Lee, Eunsook;Lee, Ju-Yeun;Lee, Euni;Bang, Jae Seung;Lee, Si Un;Han, Moon-Ku;Oh, Chang Wan;Kim, Tackeun
Journal of Korean Neurosurgical Society
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v.64
no.4
/
pp.534-542
/
2021
Objective : While balanced crystalloid (BC) could be a relevant fluid regimen with buffer system compared with normal saline (NS), there have been no studies on the optimal fluid for surgery of an unruptured intracranial aneurysm (UIA). This study aimed to compare the effects of fluid regimens between NS and BC on the metabolic and clinical outcomes of patients who underwent surgery for UIA. Methods : This study was designed as a propensity score matched retrospective comparative study and included adult patients who underwent UIA clipping. Patient groups were categorized as NS and BC groups based on the types of pre-operative fluid and the amount of fluid administered during surgery. The primary outcomes were defined as electrolyte imbalance and acidosis immediately after surgery. The secondary outcomes were the length of stay in the intensive care unit (ICU) and duration from the end of the operation to extubation. Results : A total of 586 patients were enrolled in this study, with each of 293 patients assigned to the NS and BC groups, respectively. Immediately after surgery, serum chloride levels were significantly higher in the NS group. Compared to the NS group, the BC group had lower incidence rates of acidemia (6.5% vs. 11.6%, p=0.043) and metabolic acidosis (0.7% vs. 4.4%, p=0.007). As compared to NS group, BC group had significantly shorter duration from the end of the operation to extubation (250±824 vs. 122±372 minutes, p=0.016) and length of stay in ICU (1.37±1.11 vs. 1.12±0.61 days, p=0.001). Throughout multivariable analysis, use of BC was found to be significant factor for favorable post-operative results. Conclusion : This study showed that the patients who received BC during UIA clipping had lower incidence of metabolic acidosis, earlier extubation and shorter ICU stay compared to those who received NS. Therefore, using BC as a peri-operative fluid can be recommended for patients who undergo surgery for UIA.
Kim, Young-Kyoon;Kwon, Soon-Seog;Kim, Kwan-Hyoung;Han, Ki-Don;Moon, Hwa-Sik;Song, Jeong-Sup;Park, Sung-Hak
Tuberculosis and Respiratory Diseases
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v.39
no.1
/
pp.7-14
/
1992
Background: Cognitive deficit by hypoxia and/or hypercapnia is one of neuropsychological impairments frequently observed in patients with chronic obstructive pulmonary disease (COPD). The degree of cognitive deficit is variable among patients with similar level of hypoxia and/or hypercapnia, although a cause of this individual difference is well not known. COPD can be divided into two characteristic clinical entities including predominant emphysema and predominant bronchitis. This study was designed to evaluate the individual difference in cognitive deficit respond to hypoxia and/or hypercapnia in patients with COPD. Method: Sixteen patients with COPD (9 emphysema-dominant and 7 bronchitis-dominant) participated in this study. On admission arterial blood gas analysis and trail-making B (TMB) test for the evaluation of cognitive function were done in all patients. Mean TMB scores and the correlations between TMB scores and arterial blood gases were compared between two clinical groups. Results: 1) Mean TMB scores and arterial blood gases between two clinical groups were not different. 2) There was a tendency to be higher TMB score in hypoxemia, acidemia, and hypercapnia. However these findings were not statistically significant. 3) In emphysema-dominant group, $PaCO_2$ was mostly well correlated with TMB score (r=0.693). 4) In bronchitis-dominant group, arterial pH was mostly well correlated with TMB score (r=-0.526). Conclusion: Our data suggest that the individual difference in cognitive deficit respond to hypoxia and/or hypercapnia in patients with COPD may be dependent on their clinical entities, and arterial blood gases mostly well correlated with cognitive function that may be different according to their clinical entities.
Song, Wung Joo;Lee, Sunho;Jeon, Young Mi;Kim, Sook Za;Jang, Mea Young
Journal of The Korean Society of Inherited Metabolic disease
/
v.18
no.2
/
pp.35-42
/
2018
Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.
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