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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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A Study on the Effects of Art Therapy on the Dementia Elderly (치매노인의 집단미술치료 효과에 관한 연구)

  • Lee, Hyun Sim;Kim, Seong Yong
    • 한국노년학
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    • v.28 no.4
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    • pp.1279-1295
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    • 2008
  • This study was done to find out the effects that group art therapy would have on low rank cognitive functions and the self-esteem of the elderly with dementia. The study subjects were four elderly females with light dementia symptoms who scored lower than 19 points on the MMSE-K(Mini Mental State Examination-Korea) test. They were chosen from the ${\bigcirc}{\bigcirc}$ Senior Welfare Service Center located in Seoul. A total of 15 sessions of a group art therapy were given once a week for 60 minutes from January 15th to April 30th of 2008, the research tools employed were the MMSE-K and the Rosenberg Self-Esteem Scale on which a pre-test and a post-test were given. The results obtained are as follows. First, it was shown that group art therapy is effective to improve the cognitive functions of the elderly with dementia. According to the pre-tests and post -tests based on MMSE-K, the average score improved from 16.75 to 19.75, using Wilcoxon non-parameter statistics, verification resultant p-value which significant difference exhibited as .046, from the pre-tests and post-test, the average score improved in the subordinate areas of Orientation, Registration, Attention and Calculation, language function, understanding and judgment but there was no significant difference, memory recollection improved by a score of 0.70 according to the pre-test and post-test. using Wilcoxon non-parameter statistics, the verification resultant p-value which significant difference exhibited as .043. Second, it appeared with the fact that group art therapy effects the Self-Esteem of the elderly with dementia. From the verifications of a pre-test and post-test on Self-Esteem, the average score improved from 20.75 to 24.25, the effectiveness of the program was given proven by statistically considering the statistical resultant p-value of .048.

Questionnaire survey for the clinical trial participants who experienced both digital and conventional impression (디지털 인상법과 종래인상법을 동시에 경험한 임상시험자를 대상으로 한 설문지분석)

  • Yang, Eunbee;Kim, Bongju;Lee, Jun Jae;Lee, Seung-Pyo;Lim, Young-Jun
    • Journal of Dental Rehabilitation and Applied Science
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    • v.34 no.4
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    • pp.270-279
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    • 2018
  • Purpose: The aim of this study was to assess the patients' perception, acceptance, and preference of the difference between a conventional impression and digital impression through questionnaire survey. Materials and Methods: Thirteen (6 male, 7 female) subjects who experienced both digital and conventional impression at the same day were enrolled in this study. Conventional impression were taken with polyvinylsiloxane and digital impression were performed using a newly developed intra-oral scanner. Immediately after the two impressions were made, a survey was conducted with the standardized questionnaires consisting of the following three categories; 1) general dental treatment 2) satisfaction of conventional impression 3) satisfaction of digital impression. The perceived source of satisfaction was evaluated using Likert scale. The distribution of the answers was assessed by percentages and statistical analyses were performed with the paired t-test, and P < 0.05 was considered significant. Results: There were significant differences of the overall satisfaction between two impression methods (P < 0.05). Digital impression showed high satisfaction in less shortness of breath and odor to participants compared to conventional impression. The use of an oral scanner resulted in a discomfort of TMJ due to prolonged mouth opening and in lower score of the scanner tip size. Conclusion: It was confirmed that the preference for the digital impression using intraoral scanner is higher than the conventional impression. Most survey participants said they would recommend the digital impression to others and said they preferred it for future prosthetic treatment.

The Aspect of Gamseong Expression and Way of Healing in Women's Folk Songs - Focused on the folk songs in South Jeolla Province - (여성 민요에 나타난 감성의 발현양상과 치유방식 - 전남지역을 중심으로 -)

  • You, mok-hwa
    • (The) Research of the performance art and culture
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    • no.20
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    • pp.129-161
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    • 2010
  • Women's social status is marginal in the patriarchal system, therefore it is not easy to express their's desire. Women's social role are restricted by the Confucian culture in the late of Chosun Dinasty. But women freely expressed their's gamseong(感性) by singing the folk songs. Many researches have focused on the reality of life or the structure and meanings of the women's folk songs. On the contrary, no one has paid attention to the gamseong in the women's folk songs. This is the reason why this thesis focused on the aspects of gamseong in the women's folk songs. The aspect of gamseong expression in women's folk songs can be classfied as follow: HAN(恨) resulting from living with one's husband's parents (Si-jip-sa-ri); LONGING caused by parting with the lover; HOPE due to childbirth and bringing up; SHIN-MYOUNG(神明) through deviation and liberation. In conclusion, We can find out women's gamseong would be formed from the their own roles and relationship with the others. Besides they could offset their sorrow and cure their pain through loving others and selfloving.

Female Gender is a Poor Predictive Factor of Functional Dyspepsia Resolution after Helicobacter pylori Eradication: A Prospective, Multi-center Korean Trial (기능성 소화불량증 환자에서 헬리코박터 파일로리 제균 치료 효과 및 관련 요인: 국내 전향적, 다기관 연구)

  • Kim, Sung Eun;Kim, Nayoung;Park, Seon Mee;Kim, Won Hee;Baik, Gwang Ho;Jo, Yunju;Park, Kyung Sik;Lee, Ju Yup;Shim, Ki-Nam;Kim, Gwang Ha;Lee, Bong Eun;Hong, Su Jin;Park, Seon-Young;Choi, Suck Chei;Oh, Jung Hwan;Kim, Hyun Jin
    • The Korean Journal of Gastroenterology
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    • v.72 no.6
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    • pp.286-294
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    • 2018
  • Background/Aims: The predictive factors of functional dyspepsia (FD) remain controversial. Therefore, we sought to investigate symptom responses in FD patients after Helicobacter pylori (H. pylori) eradication and used predictive factor analysis to identify significant factors of FD resolution at one-year after commencing eradication therapy. Methods: This prospective, multi-center clinical trial was performed on 65 FD patients that met Rome III criteria and had H. pylori infection. Symptom responses and factors that predicted poor response were determined by analysis one year after commencing H. pylori eradication therapy. Results: A total of 63 patients completed the one-year follow-up. When an eradication success group (n=60) and an eradication failure group (n=3) were compared with respect to FD response rate at one year, results were as follows; complete response 73.3% and 0.0%, satisfactory response 1.7% and 0.0%, partial response 10.0% and 33.3%, and refractory response 15.0% and 66.7%, respectively (p=0.013). Univariate analysis showed persistent H. pylori infection (p=0.021), female gender (p=0.025), and medication for FD during the study period (p=0.013) were associated with poor FD response at one year. However, age, smoking, alcohol consumption, and underlying disease were not found to affect response. Finally, multivariate analysis showed that female gender (OR, 4.70; 95% CI, 1.17-18.88) was the sole independent risk factor of poor FD response at one year after commencing H. pylori eradication therapy. Conclusions: Female gender was found to predict poor response in FD patients despite H. pylori eradication. Furthermore, successful H. pylori eradication appears to be associated with FD improvement, but the number of non-eradicated patients was too small to conclude.

Mid-Term Results of Fixed Bearing Unicompartmental Knee Arthroplasty: Minimum 5-Year Follow-Up (고정형 슬관절 단일 구획 치환술의 중기 추시 결과: 최소 5년 추시)

  • Oh, Jeong Han;Joo, Il-Han;Kong, Dong-Yi;Choi, Choong-Hyeok
    • Journal of the Korean Orthopaedic Association
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    • v.53 no.6
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    • pp.498-504
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    • 2018
  • Purpose: To evaluate the clinical and radiological outcomes, and the complications of unicompartmental knee arthroplasty (UKA) using a fixed bearing prosthesis after 5-year follow-up. Materials and Methods: Twenty-six knees (25 patients) that underwent fixed bearing UKA between May 2003 and August 2011 were included. The subjects were 3 males (3 knees) and 22 females (23 knees), and the average age was 63.5 years. The preoperative diagnosis was osteoarthritis (23 knees) and osteonecrosis (3 knees). The mean follow-up duration was 67 months (from 60 to 149 months). The clinical evaluation included pre- and postoperative American knee society knee and function score, and range of motion. The radiology evaluation included standing antero-posterior, lateral view, and fluoroscopic film to analyze the postoperative alignment and osteolysis. Results: The mean American Knee Society knee score and function score were improved from 42.0 and 57.5 to 87.9 and 85.0, respectively (p<0.001). The mean preoperative and postoperative range of motion was $132.9^{\circ}$ and $132.5^{\circ}$, respectively. The mean femorotibial angle were varus $0.5^{\circ}$ preoperatively and valgus $2.2^{\circ}$ postoperatively. A radiolucent line was observed in 2 knees; one knee had a stable implant, while in the other knee, patellofemoral arthritis was identified during UKA. Diffuse pain of the knee joint with tenderness of the medial joint line was identified at the follow-up, so conversion to total knee arthroplasty was recommended. No other complications, such as osteolysis, infections, postoperative stiffness, and dislocation, were encountered. Conclusion: The midterm results of fixed bearing UKA were clinically and radiologically satisfactory.

A Study on the Reinforcement Plan for the Local Government to Respond to the Climate Change through the Survey of Residents Consciousness - Focused on the Gangnam-gu - (주민 의식 조사를 통한 지자체 기후변화 대응 강화 방안에 관한 연구 - 강남구를 중심으로 -)

  • Choi, Bong Seok;Park, Kyung Eun;Jeon, Eui Chan
    • Journal of Climate Change Research
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    • v.5 no.1
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    • pp.83-94
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    • 2014
  • Gangnam-gu, where the survey of residents' consciousness has been made in this study, is the district shows the highest rate of the energy consumption and greenhouse gas emission per unit area except some industrial districts such as Gwangyang, Ulsan, and Pohang. The greenhouse gas emission amount of Gangnam-gu is 4,863,765 $tCO_2$ which accounts for 10 % of the total discharging amount of Seoul, 50,330,356 $tCO_2$, which is ranked the top greenhouse gas emission rate in the commercial category and the 2nd place in the household category. The average recognition rate for the 5 subjects of the global warming phenomenons has indicated to be 83.58%. A survey questioning about the main agent to reduce the greenhouse gas, in all age groups except 20s have replied that it should be done by themselves, the residents of Gangnam-gu. For the question of the role of local government to respond to the climate change, the necessity of establishing infrastructure which is suitable for walking and biking. For the other question about the educational facilities to cope with the climate change, many answered the relevant education should be processed from the middle and high schools. For the practical activities in daily life to respond to the climate change, many replies have shown that the energy and resource conservation has been practiced pretty well broadly, but the ecomileage (former carbon mileage) has not been practiced well. Also, many replies have pointed that there were no benefits or rewards for the people who practiced the eco-mileage in their daily lives, which indicates that a kind of incentive is necessary for the efforts to respond to the climate change from the local government to execute the policy substantially and effectively. This study has the purpose to search the political countermeasures to improve the potentiality to reduce the green house gas emission rate through the residents conscious survey about climate change and the political solution by the local government to improve the certain items which showed the lower awareness rate.

Multicenter Evaluation on the Efficacy of N-Acetyl Cystine in Relieving the Symptoms of Laryngopharyngeal Reflux Disease (인후두 역류질환에서 N-Acetyl Cysteine의 증상 개선 효과에 대한 다기관 평가)

  • Kim, So Yean;Kwon, Tack Kyun;Kim, Han Su;Son, Young Ik;Woo, Seung Hoon;Woo, Jeong-Soo;Lee, Seung Won;Lim, Jae Yol;Chung, Man Ki;Joo, Young Hoon;Cha, Wonjae;Choi, Seung Ho;Hong, Hyun Jun;Lee, Sang Hyuk
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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    • v.29 no.2
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    • pp.87-93
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    • 2018
  • Background and Objectives : Laryngopharyngeal reflux disease (LPRD) is relatively common disease. N-acetyl cysteine (NAC) has both mucolytic and antioxidant effect, also may be beneficial in inflammatory airway diseases. The purpose of this study was to evaluate the efficacy and safety of inhaled NAC therapy in LPRD. Materials and Method : We retrospectively reviewed the medical records of 525 LPRD patients at 12 medical centers. Finally 401 patients subjected to inhaled NAC therapy for 2 months were enrolled in the study. We analyzed the change of Reflux Symptom Index (RSI) and Reflux Finding Score (RFS) after use of NAC for 4 weeks and 8 weeks in addition to the patient's compliance of the treatment. Results : The RSI score significantly decreased from $19.87{\pm}6.34$ to $12.78{\pm}6.93$ after 4 weeks and to $10.65{\pm}7.47$ after 8 weeks. The RFS score also significantly decreased from $9.29{\pm}3.4$ to $7.17{\pm}3.41$ after 4 weeks and to $6.1{\pm}3.73$ after 8 weeks (p<0.05). During the treatment periods, 42 patients (10.4%) reported to have 80 episodes of discomfort. Throat discomfort (33%) and nausea (28%) were most common complaints, but the duration of discomfort was usually less than 4 weeks. Conclusion : Inhaled NAC treatment is highly effective for the reduction of both subjective and objective findings in LPRD patients. This study will provide the evidence of new treatment option for patients with LPRD. However, further studies will be needs to assess the real effect of inhaled NAC therapy as a standard treatment regimen of LPRD.

Decreased Nocturnal Blood Pressure Dipping in Patients with Periodic Limb Movements in Sleep (수면중 주기성 사지 운동에서 나타나는 야간 혈압 강하의 감소)

  • Lee, Mi Hyun;Choi, Jae-Won;Oh, Seong Min;Lee, Yu Jin
    • Sleep Medicine and Psychophysiology
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    • v.25 no.2
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    • pp.51-57
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    • 2018
  • Objectives: Previous studies have shown that periodic limb movements in sleep (PLMS) could be one of risk factors for cardiovascular morbidity. The purpose of this study was to investigate the association between PLMS and blood pressure changes during sleep. Methods: We analyzed data from 358 adults (176 men and 182 women) aged 18 years and older who were free from sleep apnea syndrome (Respiratory Disturbance Index < 5) and sleep disorders such as REM sleep behavior disorder or narcolepsy. Demographic characteristics, polysomnography records, and clinical variable data including blood pressure, body mass index, alcohol, smoking, and current medications were collected. In addition, self-report questionnaires including the Beck Depression Index, Epworth Sleepiness Scale and Pittsburgh Sleep Quality Index were completed. Blood pressure change from bedtime to awakening was compared between the two periodic limb movement index (PLMI) groups [low PLMI ($PLMI{\leq}15$) and high PLMI (PLMI > 15)]. Blood pressure change patterns were compared using repeated measures analysis of variance. Results: Systolic blood pressure in the high PLMI group was lower than that in the low PLMI group (p = 0.036). These results were also significant when adjusted for gender and age, but were not statistically significant when adjusted for BMI, alcohol, smoking, anti-hypertension medication use and sleep efficiency (p = 0.098). Systolic blood pressure dropped by 9.7 mm Hg in the low PLMI group, and systolic blood pressure in the high PLMI group dropped by 2.9 mm Hg. There was a significant difference in delta systolic blood pressure after sleep between the two groups in women when adjusted for age, BMI, alcohol, smoking, antihypertensive medication use and sleep efficiency (p = 0.023). Conclusion: PLMS was significantly associated with a decreasing pattern in nocturnal BP during sleep, and this association remained significant in women when adjusted for age, BMI, alcohol, smoking, antihypertension medication use and sleep efficiency related to blood pressure. We suggest that PLMS may be associated with cardiovascular morbidity.

Analyzing Studies on Teacher Professional Vision: A Literature Review ('수업을 보는 눈'으로서 교사의 전문적 시각에 대한 기존 연구의 특징과 쟁점 분석)

  • Yoon, Hye-Gyoung;Park, Jisun;Song, Youngjin;Kim, Mijung;Joung, Yong Jae
    • Journal of The Korean Association For Science Education
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    • v.38 no.6
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    • pp.765-780
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    • 2018
  • The purpose of this study is to synthesize the theoretical perspectives, research methods, and research results of teachers' professional vision by reviewing and analyzing previous research papers and to suggest implications for science teacher education and research. Three databases were used to search peer reviewed journal articles published between 1997-2017, which include 'teachers' and 'professional vision' explicitly in abstracts and empirical studies only. 21 articles in total were analyzed and review results are as follows. First, researchers regarded professional vision as a new concept of teacher professionalism. Previous research viewed professional vision as integrated structure of teachers' knowledge or ability activated at specific moment. Second, the analytical framework of professional vision included two aspects; 'selective attention' and 'reasoning'. Several aspects of lessons or the desirable teaching and learning factors are suggested as the subcategories of selective attention. Hierarchical levels or independent reasoning ability factors are suggested as the subcategories of reasoning process. Third, research on teachers' professional vision focused more on middle school teachers than elementary teachers and on various subject areas. Most studies used video clips and more cases of using videos of non-participants were found. In case of measurement of professional vision, most quantitative scoring methods were whether the responses of experts and teachers on video clips were consistent. Last, most studies examined or assessed teachers' professional vision. It is reported that in-service teachers' professional vision was evaluated higher than novice teachers' and using video clips were effective to examine and improve teachers' professional vision.