Journal of The Korean Society of Inherited Metabolic disease
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v.15
no.1
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pp.29-34
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2015
Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.
Song, Jin Woo;Choi, Chang-Min;Hong, Sang-Bum;Oh, Yeon-Mok;Shim, Tae Sun;Lim, Chae-Man;Lee, Sang-Do;Kim, Woo Sung;Kim, Dong Soon;Kim, Won Dong;Koh, Younsuck
Tuberculosis and Respiratory Diseases
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v.65
no.4
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pp.292-300
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2008
Background: Respiratory failure is a common condition that requires intensive care, and has a high mortality rate despite the recent improvements in respiratory care. Previous reports of patients with respiratory failure focused on the specific disease or included a large proportion of surgical patients. This study evaluated the clinical characteristics, outcomes and prognostic factors of adult patients receiving mechanical ventilation in a medical intensive care unit. Methods: Retrospective chart review was performed on 479 adult patients, who received mechanical ventilation for more than 48 hours in the medical ICU of one tertiary referral hospital. Results: The mean age of the patients was $60.3{\pm}15.6$ years and 34.0% were female. The initial mean APACHE III score was $72.3{\pm}25$. The cause of MV included acute respiratory failure (71.8%), acute exacerbation of chronic pulmonary disease (20.9%), coma (5.6%), and neuromuscular disorders (1.7%). Pressure controlled ventilation was used as the initial ventilator mode in 67.8% of patients, and pressure support ventilation was used as the initial weaning mode in 83.6% of the patients. The overall mortality rate in the ICU and hospital was 49.3% and 55.4%, respectively. The main cause of death in hospital was septic shock (32.5%), respiratory failure (11.7%), and multiorgan failure (10.2%). Males, an APACHE III score >70, the cause of respiratory failure (interstitial lung disease, coma, aspiration, pneumonia, sepsis and hemoptysis), the total ventilation time, and length of stay in hospital were independently associated with mortality. Conclusion: The cause of respiratory failure, severity of the patients, and gender appears to be significantly associated with the outcome of mechanical ventilatory support in patients with respiratory failure.
Park, Kyung Hye;Lee, Kang Hyun;Kim, Seon Hyu;Oh, Sung Bum;Moon, Joong Bum;Kim, Hyun;Hwang, Sung Oh;Kim, Heon Ju
Journal of Trauma and Injury
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v.18
no.2
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pp.127-134
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2005
Purpose: Currently, there is a variety of systems available for predicting prognosis of trauma patients such as trauma score, Injury severity score (ISS) and acid-base variables. But it is not clear that the initial acid-base variables are predictors of prognosis in trauma patients at the emergency department. The objective of this study is to compare the base deficit, lactate and strong ion gap as an early predictor of mortality in trauma patients. Methods: Retrospective record review of 136 trauma patients needed to admit to intensive care unit via emergency department (June 2004 to February 2005). Data included age, injury mechanism, ISS, Revised trauma score (RTS), Multiple organ dysfunction score (MODS), Acute physiology and chronic health evaluation III (APACHE III), Glasgow coma scale (GCS), laboratory profiles, calculated anion gap and strong ion gap. Patients were divided into survivors and non-survivors, shock group and non-shock group with comparison by t-test;significance was assumed for p<0.05. Correlation between acid-base variables and mean arterial blood pressure (MABP) was evaluated. Results: There was a significant difference between the RTS (p=0.00), APACHE III (p=0.00), MODS (p=0.00), GCS (p=0.00) of survivors and non-survivors. There was no significant difference between the ISS (p=0.082), lactate (p=0.541), base excess (p=0.468) and SIG (p=0.894) of survivors and non-survivors. There was a significant difference between the RTS (p=0.023), APACHE III (p=0.002), lactate (p=0.000), base excess (p=0.000) and SIG (p=0.000) of shock and non-shock group. There was no significant difference between the ISS (p=0.270), MODS (p=0.442) and GCS (p=0.432) of shock and non-shock group. The base excess was most correlated to MABP (r2=0.150). Conclusion: Initial base deficit, serum lactate and SIG are not predictors of mortality in moderate to severe trauma patients. Initial base deficit, serum lactate and SIG are correlated with the mean arterial blood pressure in trauma patients in emergency department.
Kim, Seog-Ju;Park, Young-Su;Lee, Hae-Won;Park, Sang-Min
Korean Journal of Psychosomatic Medicine
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v.20
no.1
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pp.32-39
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2012
Objective : Psychiatry in North Korea is believed to seem very different from psychiatry in South Korea. However, there is nearly no information regarding psychiatry in North Korea until now. Our study aimed to get information about North Korean psychiatry. Methods : Three North Korean defectors in South Korea, whose clinical experience as medical doctors in North Korea was over 10 years, were recruited. They underwent the semi-structured interview, content of which included the clinical experience with psychiatric patients, the details of psychiatry, the treatment of psychiatric patients, the stigma of mental illness, and the suicide, in North Korea. Results : In North Korea, psychiatric department was called as 49th(pronounced as Sahsip-gu-ho in Korean). Only patients with vivid psychotic symptoms came to psychiatric department. Non-psychotic depression or anxiety disorders usually were not dealt in psychiatry. The etiology of mental illness seemed to be confined to biological factors including genetic predisposition. Psychosocial or psychodynamic factors as etiology of mental illness appeared to be ignored. Psychiatry was apparently separated from political or ideological issues. The mainstay of psychiatric treatment is the inpatient admission and out-of-date therapy such as insulin coma therapy. Stigma over mental illness was common in North Korea. Suicide is considered as a betrayal to his/her nation, and has been reported to be very rare. Conclusion : The situation of psychiatry in North Korea is largely different from that of South Korea. Although some aspects of North Korean psychiatry are similar to psychiatry in former socialist countries, North Korean psychiatry is considered to have also its unique characteristics.
Objective : The beneficial effect of hypothermia after hemicraniectomy in malignant middle cerebral artery (MCA) infarction has been controversial. We aim to investigate the safety and clinical efficacy of hypothermia after hemicraniectomy in malignant MCA infarction. Methods : From October 2012 to February 2016, 20 patients underwent hypothermia (Blanketrol III, Cincinnati Sub-Zero, Cincinnati, OH, USA) at $34^{\circ}C$ after hemicraniectomy in malignant MCA infarction (hypothermia group). The indication of hypothermia included acute cerebral infarction >2/3 of MCA territory and a Glasgow coma scale (GCS) score <11 with a midline shift >10 mm or transtentorial herniation sign (a fixed and dilated pupil). We retrospectively collected 27 patients, as the control group, who had undergone hemicraniectomy alone and simultaneously met the inclusion criteria of hypothermia between January 2010 and September 2012, before hypothermia was implemented as a treatment strategy in Dong-A University Hospital. We compared the mortality rate between the two groups and investigated hypothermia-related complications, such as postoperative bleeding, pneumonia, sepsis and arrhythmia. Results : The age, preoperative infarct volume, GCS score, National institutes of Health Stroke Scale score, and degree of midline shift were not significantly different between the two groups. Of the 20 patients in the hypothermia group, 11 patients were induced with hypothermia immediately after hemicraniectomy and hypothermia was initiated in 9 patients after the decision of hypothermia during postoperative care. The duration of hypothermia was $4{\pm}2days$ (range, 1 to 7 days). The side effects of hypothermia included two patients with arrhythmia, one with sepsis, one with pneumonia, and one with hypotension. Three cases of hypothermia were discontinued due to these side effects (one sepsis, one hypotension, and one bradycardia). The mortality rate of the hypothermia group was 15.0% and that of the control group was 40.7% (p=0.056). On the basis of the logistic regression analysis, hypothermia was considered to contribute to the decrease in mortality rate (odds ratio, 6.21; 95% confidence interval, 1.04 to 37.05; p=0.045). Conclusion : This study suggests that hypothermia after hemicraniectomy is a viable option when the progression of patients with malignant MCA infarction indicate poor prognosis.
Lee, Soo Hyung;Park, Hong In;Choe, Michael Sung Pil;Je, Dong Wook;Nho, Woo Young;Kim, Seong Hun;Lee, Mi Jin;Ahn, Jae Yun;Moon, Sung Bae;Lee, Dong Eun;Park, Jung Bae
Journal of The Korean Society of Clinical Toxicology
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v.14
no.2
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pp.136-143
/
2016
Purpose: In patients with altered mentality caused by drugs or unknown causes, ammonia is checked to facilitate differential diagnosis or diagnose hepatic coma. This helps early prevention and treatment of brain damage due to hyperammonemia. This study was conducted to evaluate clinical characteristics of intoxicated adult patients with hyperammonemia. Methods: We evaluated 95 patients with hyperammonemia among intoxicated patients above the age of 15 who visited our ED from January 2013 to December 2015. We analyzed the demographic characteristics and type of poisoning substance, reason for ingestion, toxicological characteristics such as elapsed time from ingestion to hospital visit, lab, clinical progression and complications. Data were evaluated using the student's t test or Mann-Whitney U test for continuous variables, and Chi-square test and Fisher's exact test for frequency analysis of categorical variables. Results: When compared to healthy individuals, patients with hyperammonemia showed statistical significance on their SOFA score (p=0.016) and poison severity score (p<0.001). Additionally, patients with hyperammonemia showed significantly different initial serum AST level (p=0.012) and maximum serum AST level during the hospital stay (p=0.026) when compared to healthy individuals. Moreover, individuals with sustained hyperammonemia compared to transient hyperammonemia showed clinically significant SOFA scores (p<0.001), poison severity scores (p=0.007), mortality rates in the ICU (p=0.021), as well as different duration of hospital stay (p=0.037), serum creatinine level (p=0.002), erythrocyte sedimentation rate (p=0.025), and serum myoglobin (p=0.015). Conclusion: Most poisoning-induced hyperammonemia cases were transient and recovered without special treatment. Therefore, hyperammonemia is almost non-specific among poisoning patients.
Youk, Hyun;Cha, Yong Sung;Kim, Hyun;Kim, Sung Hoon;Kim, Ji Hyun;Kim, Oh Hyun;Kim, Hyung Il;Cha, Kyoung Chul;Lee, Kang Hyun;Hwang, Sung Oh
Journal of The Korean Society of Clinical Toxicology
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v.14
no.2
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pp.115-121
/
2016
Purpose: Because carbon monoxide (CO)-intoxicated patients with an alert mental status and only mild cognitive dysfunction may be inadequately assessed by traditional bedside neurologic examination in the emergency department (ED), they may not receive appropriate treatment. Methods: We retrospectively investigated the incidence and features of cognitive dysfunction using the Korean version of the Mini-Mental State Examination (MMSE-K) in ED patients with CO poisoning with alert mental status. We conducted a retrospective review of 43 consecutive mild CO poisoned patients with a Glasgow Coma Scale score of 15 based on documentation by the treating emergency physician in the ED between July 2014 and August 2015. Results: Cognitive dysfunction, defined as a score of less than 24 in the MMSE-K, was diagnosed in six patients (14%) in the ED. In the MMSE-K, orientation to time, memory recall, and concentration/calculation showed greater impairments. The mean age was significantly older in the cognitive dysfunction group than the non-cognitive dysfunction group (45.3 yrs vs. 66.5 yrs, p<0.001). Among the initial symptoms, experience of a transient change in mental status before ED arrival was significantly more common in the cognitive dysfunction group (32.4% vs. 100%, p=0.003). Conclusion: Patients with CO poisoning and an alert mental status may experience cognitive dysfunction as assessed using the MMSE-K during the early stages of evaluation in the ED. In the MMSE-K, orientation to time, memory recall, and concentration/calculation showed the greatest impairment.
Kim, So Yeon;Lee, Ryun Kyung;Kim, Tae hu;Kim, Dong Hoon;Kim, Taeyun;Lee, Soo Hoon;Jeong, Jin Hee;Lee, Sang Bong;Kang, Changwoo
Journal of The Korean Society of Clinical Toxicology
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v.15
no.1
/
pp.11-16
/
2017
Purpose: The association of hypoalbuminemia with 30-day in-hospital mortality in patients with organophosphate insecticide poisoning (OPI) was studied. Methods: This retrospective cohort study was conducted between January 2006 and November 2013 in the emergency department (ED) after OPI poisoning. A Kaplan-Meier 30-day survival curve and the log-rank test were used to analyze patients stratified according to serum albumin levels on ED admission (hypoalbuminemia or normo-albuminemia). Independent risk factors including hypoalbuminemia for 30-day mortality were determined by multivariate Cox regression analysis. Results: A total of 135 patients were included. Eighty-eight (65%) patients were male and the mean age was $57.3{\pm}17.0$ years. Serum albumin, mean arterial pressure, and Glasgow coma scale score were significantly higher in the survival group than the non-survival group. APACHE II score was significantly lower in the non-survival group than the survival group. The mortality of the hypoalbuminemia group (serum albumin <3.5 g/dl) was 68.8%, while that of the normo-albuminemia group (serum albumin ${\geq}3.5g/dl$) was 15.1%. The area under the ROC curve of the serum albumin level was 0.786 (95% CI, 0.690-0.881) and the APACHE II score was 0.840 (95% CI, 0.770-0.910). Conclusion: Hypoalbuminemia is associated with 30-day mortality in patients with OPI poisoning.
The methods of checking the exuberance of yang (潛陽法) are a kind of medical treatments which cure various symtoms caused by hyperactivity of liver-yang, at the same time used for treating apoplexy. Thus, I investigated the application of checking the exuberance of yang to treat stroke. The conclusions are as follows. We can find application of checking the exuberance of yang to apoplexy on Synopsis of the Gold Chamber. After Ye Gui who persisted the theory of endogenous wind, many physicians applied the method of checking the exuberance of yang and this method has usually applied with nourishing yin. The methods of checking the exuberance of yang are concretely applied as follows. 1) a portion of apoplexy involving the channels and collaterals, which is caused by deficiency of yin and wind-fire pathogen. 2) excessive-syndrome of coma accompanied by heat syndrome. 3) epilepsy caused old apoplexy. The majority of shells for example abalone shell, hawksbill shell, oyster shell, tortoise-shell etc. are the most frequent use of herbal drug which check the exuberance of yang. The precriptions of checking the exuberance of yang are Ho-jam-hwan(虎潛丸), Ko-bon-dan(固本丹), Cheon-ma-gu-deung-eum(天麻鉤藤飮), Chin-gan-sik-pung-tang(鎭肝熄風湯) etc.
Chung, Jae Sik;Kim, Oh Hyun;Kim, Seongyup;Jang, Ji Young;An, Gyo Jin;Jung, Pil Young
Journal of Trauma and Injury
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v.33
no.1
/
pp.23-30
/
2020
Purpose: Hemorrhagic shock is the leading cause of death in trauma patients worldwide. Resuscitative endovascular balloon occlusion of the aorta (REBOA) is a technique used to improve the hemodynamic stability of patients with traumatic shock and to temporarily control arterial hemorrhage. However, further research is required to determine whether REBOA with cardiopulmonary resuscitation (CPR) in near-arrest or arrest trauma patients can help resuscitation. We analyzed trauma patients who underwent REBOA according to their CPR status and evaluated the effects of REBOA in arrest situations. Methods: This study was a retrospective single-regional trauma center study conducted at a tertiary medical institution from February 2017 to November 2019. We evaluated the mortality of severely injured patients who underwent REBOA and analyzed the factors that influenced the outcome. Patients were divided into CPR and non-CPR groups. Results: We reviewed 1,596 trauma patients with shock, of whom 23 patients underwent REBOA (1.4%). Two patients were excluded due to failure and a repeated attempt of REBOA. The Glasgow Coma Scale score was lower in the CPR group than in the non-CPR group (p=0.009). Blood pressure readings at the emergency room were lower in the CPR group than in the non-CPR group, including systolic blood pressure (p=0.012), diastolic blood pressure (p=0.002), and mean arterial pressure (p=0.008). In addition, the mortality rate was higher in the CPR group (100%) than in the non-CPR group (50%) (p=0.012). The overall mortality rate was 76.2%. Conclusions: Our study suggests that if REBOA is deemed necessary in a timely manner, it is better to perform REBOA before an arrest occurs. Therefore, appropriate protocols, including pre-hospital REBOA, should be constructed to demonstrate the effectiveness of REBOA in reducing mortality in arrest or impending arrest patients.
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