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Chronic Hereditary Tyrosinemia Type I with Novel Mutation in FAH Gene (FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형)

  • Yang, Sungmin;Choi, Hyo Won;Kang, Yun Koo;Lee, Jin-Sung;Namgoong, Mee Kyung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.55-62
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    • 2020
  • A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

Continuous Control of Acetaminophen Poisoning after Implementation of Regulation for Ease Access of Acetaminophen: Cohort Study from Emergency Department Based in-depth Injury Surveillance (아세트아미노펜 사용 편의성 증가 후 중독발생 위험의 지속적 관리 필요성)

  • Jo, Seung Jik;Gang, Hyun Young;Lee, Si Jin;Bae, Gyu Hyun;Lee, Eui Jung;Han, Kap Su;Kim, Su Jin;Lee, Sung Woo
    • Journal of The Korean Society of Clinical Toxicology
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    • v.18 no.2
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    • pp.57-65
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    • 2020
  • Purpose: Since 2012, acetaminophen can be accessed easily not only at pharmacies but also at convenience stores. The relationship between the easy access of acetaminophen and the risk of poisoning has been controversial. Several studies also reported different results regarding the risk of acetaminophen poisoning after access to acetaminophen was relaxed. This study examined the long-term effects on the risk of acetaminophen poisoning after easy access to acetaminophen was implemented. Methods: This was a retrospective analysis of an emergency department (ED)-based in-depth Injury Surveillance Cohort by the Korea Center for Disease Control and prevention from 2011 to 2018. Poisoning cases were selected from the Cohort, and the incidence of acetaminophen poisoning and the characteristics of the cases of acetaminophen poisoning were analyzed. The purchase path and the amount of ingestion in acetaminophen poisoning were sub-analyzed from data of six EDs. Results: Of 57,326 poisoning cases, 4.0% (2,272 cases) were acetaminophen poisoning. Of 2,272 cases of acetaminophen poisoning, 42.8% (974 cases) required in-patient care after ED management. Two hundred and sixty-four of these 964 cases required intensive care. The rates of cases that required in-patient treatment and the rates of cases that required intensive care increased from 29.4% in 2011 to 48.1% in 2018, and from 3.1% in 2011 to 15.2% in 2018, respectively (p<0.001, p<0.001). In the poisoning group with in-depth toxic surveillance (n=15,908), the incidence and proportion of acetaminophen (AAP) poisoning increased from 55 cases per year to 187 cases per year and 4.9% to 6.1%, respectively (p=0.009, p<0.001, respectively). The most common age group of acetaminophen poisoning was teenagers, which is different from the most common age group of other pharmaceutical agents: the middle age group of 40-49 years (p<0.001). Of 15,908 in-depth toxic surveillance patients, 693 patients had AAP poisoning, of whom 377 cases (54.2%) purchased acetaminophen from a non-pharmacy. The proportions of the purchase path from non-pharmacy were 41.4% at 2011-12 and 56.4% (2013-18) (p=0.004). The amount of acetaminophen ingestion was 13.5±14.3 g at 2011-12 and 13.9±15.1 g at 2013-18 (p=0.794). Conclusion: Although the incidence of acetaminophen poisoning did not increase remarkably in the short term after the implementation of the new regulation, the incidence of acetaminophen poisoning has increased slightly during the study period of 2017-18. In addition, the proportion of the purchase path from non-pharmacies has increased since the emergence of new regulations for the easy access of acetaminophen in 2012. The incidence of acetaminophen poisoning might have been affected after the increasing accessibility of acetaminophen in convenience stores. Continuous control of acetaminophen poisoning is required. Furthermore, the prevention of acetaminophen poisoning should be focused on teenagers with specialized school education programs.

The Effect of Internalized Shame and Self-Control on Interpersonal Relationships in Stroke Patients (내면화된 수치심과 자기통제력이 뇌졸중 환자의 대인관계에 미치는 영향)

  • Hwang, Jung-Ha;Lim, Jae-Ho
    • The Journal of Korean society of community based occupational therapy
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    • v.10 no.3
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    • pp.63-74
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    • 2020
  • Objective : The purpose of this study is to investigate the influence of internal shame and self-control on interpersonal relationships in stroke patients, and to provide evidence and information necessary for clinical trials by analyzing the relationship. Methods : For this study, 150 stroke patients receiving occupational therapy services at institutions where occupational therapists work in Jeollanam-do and Chungnam regions were targeted through email and mail from March 1, 2019 to April 30, 2019. The questionnaire was conducted using general characteristics, Relationship Change Scales(RCS), Self-Control Scales(SCS), and Internalized Shame Scale(ISS) questionnaire. Descriptive statistical analysis was performed for the general characteristics of the study subjects, and t-test and one-way batch variance analysis (ANOVA) were used to compare interpersonal relationships according to general characteristics. The relationship between internalized shame, self-control, and interpersonal competence was analyzed by Pearson's correlation coefficient, and multiple regression analysis was performed to determine the factors affecting interpersonal relationships of stroke patients. Results : As a result of comparing interpersonal competence according to general characteristics, significant differences were found in terms of age and education level. Interpersonal relationships and internalized shame, internalized shame and self-control showed a negative correlation, and self-control and interpersonal relationships had a positive correlation, but self-control was the sub-factors of interpersonal relationships such as openness, sensitivity, intimacy, It was not statistically significant with the communication item. In addition, the items of inadequacy (β =-0.32) and adventure seeking (β =-0.23), which are sub-areas of internalized shame, affect the negative direction, and physical activity (β =0.22), which is the sub-area of self-control and the self-centered (β =0.24) item was found to have an effect on the positive direction. Conclusion : Therefore, additional research is needed that can operate a rehabilitation treatment program that applies various psychological factors for the formation of interpersonal relationships among stroke patients.

Brazilin downregulates CCL20 expression via regulation of STAT3 phosphorylation in TNF-α/IL-17A/IFN-γ-induced HaCaT cells (TNF-α/IL-17A/IFN-γ 유도된 HaCaT 세포에서 브라질린의 STAT3 인산화 억제를 통한 CCL20 저해 효과)

  • Kim, Mi Ran;Hwang, Hyung Seo
    • Journal of Applied Biological Chemistry
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    • v.64 no.2
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    • pp.185-192
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    • 2021
  • Psoriasis is a chronic intractable skin disease caused by various inflammatory cytokines such as IL-6, CXCL8, TNF-α, and IFN-γ, as well as IL-17A secreted from Th17 cells and is characterized by hyperkeratosis and chronic inflammation of the epidermis. Brazilin, an active ingredient of Caesalpinia sappan L., is known to exert antioxidant and anti-inflammatory activity, and function in skin barrier improvement. In particular, it was shown as a potential material for treating psoriasis in a tumor necrosis factor (TNF)-α-stimulated HaCaT keratinocyte model. However, the direct regulation of the C-C motif chemokine ligand (CCL) 20, a psoriasis-inducing factor, by brazilin has not been reported. Therefore, in this study, we investigated the suppression of CCL20 and the regulatory mechanism by brazilin using a psoriasis-like model. First, brazilin downregulated CCL20 and CXCL8 in IL-17A-stimulated HaCaT cells in a concentration-dependent manner by inhibiting signal transducer and transcription (STAT)3 phosphorylation. In addition, brazilin significantly inhibited the expression of psoriasis-related genes CXCL8, CCL20, IL-1, IL-6, and TNF-α in TNF-α/IL-17A/IFN-γ-stimulated HaCaT cells. Moreover, brazilin also had a positive effect on improving the skin barrier in TNF-α/IL-17A/IFN-γ-stimulated HaCaT cells. The above results indicated that brazilin ultimately downregulated CCL20 expression by inhibiting STAT3 phosphorylation, and also suppressed the expression of psoriasis-induced cytokines. If the efficacy of brazilin in improving psoriasis is verified through animal models and clinical trials in the future, it may represent a potentially therapeutic substance for psoriasis patients.

Bioactive compounds in food for age-associated cognitive decline: A systematic review (인지기능 개선을 위한 식품유래 생리활성소재에 대한 체계적 문헌고찰)

  • Kang, Eun Young;Cui, Fengjiao;Kim, Hyun Kyung;Go, Gwang-woong
    • Korean Journal of Food Science and Technology
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    • v.53 no.3
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    • pp.278-289
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    • 2021
  • The rapid aging of society has led to a surge in cognitive dysfunction in the elderly. As there is limited evidence for the development of dementia in medicine, a shift in focus on prevention strategies using bioactive compounds in food is required. This systematic review evaluated the effects of various bioactive compounds on age-associated cognitive decline. The literature was searched for terms related to bioactive compounds in cognitive decline and article selection was limited to clinical randomized controlled trials for a single bioactive compound. We identified 21 studies that evaluated the strength of the evidence. ω-3 fatty acids and vitamin B presented a strong evidence level, whereas vitamin D and E, anserine/carnosine, and chromium were defined as having moderate levels of evidence. ω-3 fatty acids relieved cognitive decline and reduced amyloid β-related protein accumulation. Vitamin B decreased homocysteine levels, which is accompanied by alleviation of cognitive function. In conclusion, ω-3 and vitamin B have the potential to improve age-associated cognitive decline.

Clinical Characteristics in Panic Disorder Patients in Emergency Department (공황발작으로 응급실에 내원한 공황장애 환자들의 임상 특징)

  • Lee, Chang-Ju;Nam, Beom-Woo;Sohn, In-Ki
    • Korean Journal of Psychosomatic Medicine
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    • v.29 no.1
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    • pp.26-33
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    • 2021
  • Objectives : This study was designed to investigate datas related to panic attack and treatment in emergency room of panic disorder patients who visited emergency room for panic attack. Methods : A retrospective analysis of medical records was conducted on 92 patients with panic disorder who visited Chungju Konkuk university hospital emergency department due to panic attack and had bodily symptoms from 1st January 2010 to 31th December 2019. In addition to demographic characteristics and comorbid disorders, triggering stressors and alcohol consumption were corrected as pre-panic attack datas, bodily symptoms at the time of panic attack were corrected as datas during attack, electrocardiogram trial, consultation with psychiatrist, admission and information of used psychotropic drugs were corrected as post-attack data. Depending on size of data, Chi-square test or Fisher's exact test was used. Collected data was analyzed using R 4.03. Results : Cardiovascular disease was accompanied by 5.4% and depressive disorder was the most common coexisting mental disorder. Among triggering stressors, economic problem/work-related stress was significantly higher in men than women (𝛘2=4.322, p<0.005). The most common physical symptom during attack was circulatory (65.2%), followed by respiratory (57.6%), numbness-paralysis (33.7%), dizziness (19.6%), gastro-intestinal (14.1%) and autonomic symptom (12.0%). Electrocardiogram was taken at higher rate when patients complained circulatory symptom (𝛘2=8.46, p<0.005). The psychotropic drug most commonly used in emergency room was lorazepam, used in 92.1%. Conclusions : The most common bodily symptom during panic attack was circulatory symptom and the most common triggering stressor in men was economic problem/work-related stress. The most commonly used psychotropic for panic attack was lorazepam.

A Study on the Characteristics and Consultation Request Type of Inpatients Referred for Depressive Symptoms (우울 증상으로 의뢰된 입원환자의 임상적 특징 및 자문 의뢰 형태에 관한 연구)

  • Yoon, Nara;Ryu, Seung-Ho;Ha, Jee Hyun;Jeon, Hong Jun;Park, Doo-Heum
    • Korean Journal of Psychosomatic Medicine
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    • v.29 no.1
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    • pp.34-41
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    • 2021
  • Objectives : The purpose of this study is to investigate the characteristics of depressive patients who admitted to general hospital. We examined the clinical characteristics of patients who were referred to the Department of Psychiatry as depressive symptoms, according to the type of consultation request, and comparing 'with re-consultation' and 'without re-consultation' groups. Methods : We performed a retrospective chart review of 4,966 inpatients who were referred to the Department of Psychiatry from August 2005 to December 2011. Results : For about 6 years, among the inpatients referred for psychiatric consultation, a total of 647 patients were referred for depressive symptoms, accounting for 13.82% of the total consultations. The average age of depressive patients was 58.6 years, which was higher than the average of 56.4 years of overall patients. Among the depressive patients, 275 patients were included in 'with re-consultation' group and there was no statistically significant difference when comparing 'with re-consultation' group and 'without re-consultation' group. However, there was a difference in the tendency of the two groups in the type of consultation request. 'With re-consultation' group was in the order of frequency of consultation type 3-2-1, whereas the 'without re-consultation' group was in the order of frequency of consultation type 2-3-1. Conclusions : The group of inpatients who were referred for depressive symptoms in general hospital showed the largest proportion of the group of patients referred to the Department of Psychiatry. 'With re-consultation' group had a higher rate of re-consultation due to the occurrence of new symptoms after hospitalization compared to 'without re-consultation' group. Therefore, doctors in each department and psychiatrists should pay attention to the depressive symptoms of inpatients and actively discuss treatment plans to improve the quality of medical services, identify risk factors, and make efforts to intervene early if necessary.

Association between Medial Temporal Atrophy, White Matter Hyperintensities, Neurocognitive Functions and Activities of Daily Living in Patients with Alzheimer's Disease and Mild Cognitive Impairment (알츠하이머병 및 경도인지장애 환자에서 내측두엽 위축, 대뇌백질병변, 신경인지기능과 일상생활 수행능력과의 연관성)

  • An, Min hyuk;Kim, Hyun;Lee, Kang Joon
    • Korean Journal of Psychosomatic Medicine
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    • v.29 no.1
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    • pp.67-76
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    • 2021
  • Objectives : The aim of this study was to compare activities of daily living (ADLs) according to degenerative changes in brain [i.e., medial temporal lobe atrophy (MTA), white matter hyperintensities] and to examine the association between neurocognitive functions and ADLs in Korean patients with dementia due to Alzheimer's disease (AD) and mild cognitive impairment (MCI). Methods : Participants were 111 elderly subjects diagnosed with AD or MCI in this cross-sectional study. MTA in brain MRI was rated with standardized visual rating scales (Scheltens scale) and the subjects were divided into two groups according to Scheltens scale. ADLs was evaluated with the Korean version of Blessed Dementia Scale-Activity of daily living (BDS-ADL). Neurocognitive function was evaluated with the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease assessment packet (CERAD-K). Independent t-test was performed to compare ADLs with the degree of MTA. Pearson correlation and hierarchical multiple regression analyses were performed to analyze the relationship between ADLs and neurocognitive functions. Results : The group with high severity of the MTA showed significantly higher BDS-ADL scores (p<0.05). The BDS-ADL score showed the strongest correlation with the word list recognition test among sub-items of the CERAD-K test (r=-0.568). Findings from the hierarchical multiple regression analysis revealed that the scores of MMSE-K and word list recognition test were factors that predict ADLs (F=44.611, p<0.001). Conclusions : ADLs of AD and MCI patients had significant association with MTA. Our study, which identifies factors correlated with ADLs can provide useful information in clinical settings. Further evaluation is needed to confirm the association between certain brain structures and ADLs.

The Effect of Continuous Positive Pressure Therapy for Obstructive Sleep Apnea on Quality of Life : A Single-Institution Study (폐쇄성수면무호흡증에 대한 지속적 양압치료가 삶의 질에 미치는 영향 : 단일기관 연구)

  • Shin, Hyun Suk;Choi, Mal Rye;Kim, Shin il;Hong, Se Yeon;Eun, Hun Jeong
    • Sleep Medicine and Psychophysiology
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    • v.27 no.2
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    • pp.56-66
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    • 2020
  • Objectives: In this study, the clinical characteristics of OSA patients and the quality of life before and after CPAP use were compared to determine the degree of improvement in quality of life according to CPAP use. Methods: Age, sex, height, weight, body mass index, Epworth Sleepiness Scale, Modified Mallampatti Score, Montreal Cognitive Assessment-Korean, and Pittsburgh Sleep Quality Index were compared between men and women through medical records. To understand the degree of improvement in quality of life resulting from use of CPAP, a personal telephone call was made to compare the VAS scores for quality of life before and after CPAP use. Results: In height (HT) (Z = -4.525, p < 0.001), weight (BW) (Z = -2.844, p < 0.05), sleep quality (PSQI) (Z = -2.671, p < 0.05), and arousal index (AI) (Z = -2.105, p < 0.05), there was a difference between men and women (p < 0.05). There was no difference in the remaining variables. Cross-analysis (Chi-square test) confirmed a difference between severity and sex of OSA. It has been found that there is no statistically significant order in size according to level-specific severity of OSA for PreCPAP QOL, PostCPAP QOL, CPAPUse Months, and CPAP4Hr/d (%) (p > 0.05). The difference between AHI before and after CPAP was 36.48 ± 21.54 (t = 11.609, p < 0.001) and the difference between QOL before and after CPAP was -25.43 ± 22.06 (t = -7.901, p < 0.001), both of which were significant (p < 0.001). Conclusion: Among OSA patients, there were differences in height (HT), weight (BW), sleep quality (PSQI), arousal index (AI), and severity of OSA between men and women, but the quality of life before and after CPAP was different. However, there was no difference between men and women in quality of life before and after CPAP. In addition, quality of life in OSA patients improved after using CPAP.

Usability assessment of thermoplastic Bolus for skin VMAT radiotherapy (피부 병변에 대한 VMAT 치료 시 열가소성 bolus의 유용성 평가: case review)

  • Kim, Min Soo;Kim, Joo Ho;Shin, Hyun Kyung;Cho, Min Seok;Park, Ga Yeon
    • The Journal of Korean Society for Radiation Therapy
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    • v.32
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    • pp.85-92
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    • 2020
  • Purpose: To find out the advantages of thermoplastic bolus compared to conventional bolus, which is mainly used in clinical practice, We evaluated Two cases in terms of dose and location reproducibility to assess Usability of thermoplastic Bolus for skin VMAT radiotherapy. Materials and Methods: Two patient's treated with left breast skin lesion were simulated using thermoplastic Bolus and planned with 2arc VMAT. the prescription dose was irradiated to 95% or more of the target volume. We evaluated The reproducibility of the bolus position by measuring the length of the air gap in the CBCT (Cone Beam CT) image. to evaluate dose reproducibility, we compared The dose distribution in the plan and CBCT and measured in vivo for patient 2. Results: The difference between the air gap in patient 1's simulation CT and the mean air gap (M1) during 10 treatments in the CBCT image was -0.42±1.24mm. In patient 2, the difference between the average air gap between the skin and the bolus (M2) during 14 treatments was -1.08±1.3mm, and the air gap between the bolus (M3) was 0.49±1.16. The difference in the dose distribution between Plan CT and CBCT was -1.38% for PTV1 D95 and 0.39% for SKIN (max) in patient 1. In patient 2, PTV1 D95 showed a difference of 0.63% and SKIN (max) -0.53%. The in vivo measurement showed a difference of -1.47% from the planned dose. Conclusion: thermoplastic Bolus is simpler and takes less time to manufacture compared to those produced by 3D printer. Also compared to conventional bolus, it has high reproducibility in the set-up side and stable results in terms of dose delivery.