• 대한유전성대사질환학회지
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• 제23권1호
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• pp.25-30
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• 2023

아미노아실-tRNA 합성효소는 단백질을 만드는 번역(translation)단계에서 아미노산을 활성화시키고 적절한 아미노산을 해당 tRNA에 결합을 시키는 중요한 효소이며, IARS2 유전자는 미토콘드리아에서 작용하는 isoleucylt-RNA 합성효소를 코딩하는 핵의 유전자이다. IARS2 유전자의 돌연변이는 백내장, 성장 호르몬 결핍, 감각 신경병증, 감각신경성 난청, 골격 형성 이상 증후군의 특징을 보이는 CAGSSS (MIM#616007)라는 희귀 질환의 원인으로 상염색체 열성으로 유전된다. 현재까지 이 증례 보고를 포함하여 29명의 환자만이 보고가 되었음에도 단지 백내장의 증상만 나타냈던 환자, 그리고 신경학적 증상이 두드러지는 Leigh 증후군을 유발하면서 여러 장기에 영향을 주는 환자 등 다양한 임상 증상의 환자가 보고되었다. Leigh 증후군은 드문 진행성 신경 퇴행성 미토콘드리아 질환이다. 이 연구는 IARS2 연관된 Leigh 증후군의 환자에서 방광 기능의 이상의 표현형을 보고하는 첫 증례 보고로 의미가 있다. 5세의 한국인 여아는 복부 팽만을 동반한 복통으로 응급실에 내원하였으며, 복부CT에서 명백한 폐쇄 증상, 급성 신장염, 요로감염의 징후가 보이지 않으면서 현저하게 팽창된 방광이 확인 되었다. 여아의 발달 상태는 발달 저하를 보이면서, 6개월에 뒤집기가 가능하였지만 이후는 신경학적 퇴행으로 내원당시에는 목 가누기도 되지 않고, 의미 있는 단어를 말하지도 못하는 전반적인 발달 지연 상태였다. 2세에는 양쪽 눈의 백내장이 발생하여 수술한 과거력이 있었다. 뇌 MRI T2 강조영상에서는 양쪽에 대칭적으로 기저핵(basal ganglia)에 고신호를 보였고, 이는 Leigh 증후군에 전형적인 영상의 특징이다. Whole mitochondrial genome의 유전자검사를 시행했지만 의미 있는 돌연변이가 확인되지 않았으므로, Whole exome sequencing 검사를 시행했으며, IARS2 유전자의 이중대립유전자 돌연변이(biallelic mutation), c.2446C>T (p. Arg816Ter)와 c.2450G>A (p. Arg817His)가 확인이 되었고 부모님은 보인자였다. 현재까지 IARS2 유전자의 돌연변이를 가지는 환자 중에서 신경학적 발달 저하, 인지장애 등의 증상이 동반된 환자는 신체의 다중장기질환의 증상으로 심비대, 부정맥, 빈혈, 측만증, 청력 저하, 뇌전증, 부갑상선저하증이 알려졌으나, 이 연구에서 IARS2 유전자 돌연변이를 가진 환자에서 배뇨근의 이상을 동반한 과민성방광증상을 확인하여 방광이상증상을 처음 보고를 한다. IARS2 유전자의 이상이 확인된 환자에서는 하부요로이상증상이 동반 가능성에 대해서 인지하는 것이 필요하고, 증상이 보이면 배뇨 일지나 요역동학검사를 통해서 조기에 진단 및 치료가 환자의 관리에 필요할 수 있다. 이 증례 보고는 IARS2 유전자의 임상 양상의 확대 및 유전자의 이해를 넓히는데 기여할 것으로 기대된다.

• 대한한방부인과학회지
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• 제33권3호
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• pp.1-19
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• 2020

Objectives: The purpose of this study is to assess the efficacy and safety of electroacupuncture for women with overactive bladder (OAB) comparing with sham- acupuncture, and electroacupuncture plus drugs. Methods: We searched 8 databases upto May 26, 2020. Randomised controlled trials (RCTs) were eligible. The risk of bias was assessed by two independent authors using the Cochrane risk of bias tool. Study outcomes were calculated by standardized mean differences (SMD) with 95% confidence intervals (Cls) and mean differences (MD) with 95% Cls. Results: Of 146 screened, 5 RCTs were included. Number of participants per study ranged from 5 to 57. The combined results showed that electroacupuncture (EA) may be more effective than sham acupuncture or enhance solifenacin succinates in improving Overactive Bladder Symptom Score (OABSS) and urination frequency of 24 h. However, more trials with high quality and larger sample sizes will be needed to provide sufficient evidence. Only 5 of 187 OAB patients from the included studies reported mild adverse reactions related to EA, therefore, electroacupuncture is safe for treating OAB. Conclusions: Electroacupuncture might have effect in decreasing urination frequency of 24 h and OABSS. However, the evidences ins in sufficient to show the effect using electroacupuncture alone or additional effect to drugs in treating OAB.

• 대한한방내과학회지
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• 제43권1호
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• pp.90-103
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• 2022

Objective: The purpose of this case study is to report the effectiveness of Baliao acupoints electro-acupuncture treatment on a neurogenic overactive bladder induced by stroke. Method: A patient suffering from middle cerebral artery infarction was diagnosed with a neurogenic overactive bladder and treated by Korean medicine, including electro-acupuncture on Baliao acupoints six times per week. The evaluation was performed by monitoring urinary frequency and using the Korean versions of the Overactive Bladder Symptom Score (OABSS) and Urinary Incontinence Quality of Life (I-QoL). Results: After 27 days of electro-acupuncture treatment, the OABSS score improved from 6 to 3. The I-QoL total score improved from 60 to 87. The patient also showed a decrease in nocturia frequency. Conclusion: This case suggests that electro-acupuncture on Baliao acupoints can be effective for overactive bladders due to supra-pontine lesions.

• 대한한방부인과학회지
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• 제35권4호
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• pp.121-142
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• 2022

Objectives: The purpose of this study is to review the acupuncture treatment Urinary incontinence (UI) and Overactive bladder (OAB) in postmenopausal women. Methods: We searched articles in 8 search engines with keywords related to 'Overactive bladder', 'Urinary incontinence' and 'Menopause' in July 2022. Randomized Controlled Trials (RCT) that used acupuncture on Urinary incontinence (UI) and Overactive bladder (OAB) after menopause were included. Animal studies and non RCT data were excluded. Data on acupuncture treatment such as methods, site, duration, frequency, and period were analyzed. Also, network analysis between acupoints was conducted. Results: 15 articles were selected and analyzed. Studies were conducted using manual acupuncture, electroacupuncture, pharmacopuncture and fire acupuncture. Most studies used more than one acupoint, and there were 32 acupoints selected for acupuncture treatment for UI and OAB after menopause. The most commonly used acupoint was 中極 (CV3) (n=8). In terms of the correlation of acupoints, 太谿 (KI3) had the highest value of degree centrality at 0.75. The mean treatment time, number of treatments, and duration were 26.42±6.10 minutes, 18.71±9.09 times, and 6.87±4.77 weeks. Conclusions: The results of this study could be useful in establishing the evidence for performing standardized acupuncture treatment for Urinary incontinence and Overactive bladder in postmenopausal women.

• 대한융합한의학회지
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• 제3권1호
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• pp.29-38
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• 2022

Objectives : The purpose of this study is to investigate the effect of Sa-am acupuncture and Moxibustion on urgency by Overactive bladder in a 79-year-old female patient who has undergone Tension-free Vaginal Tape (TVT) operation. Methods : Patient was treated with Sa-am acupuncture on four acupoints including 太淵(LU9), 太白(SP3), 魚際(LU10) and 少府(HT8) and Moxibustion on two acupoints including 水道(ST28) and 中極(CV12). Patient's symptom was assessed Overactive Bladder Symptom Score(OABSS), Bladder diary and King's Health Questionnaire (KHQ). The treatment was executed once everyday from June, 13th to June, 22th of 2017. Patient was observed from June, 11th to June, 22th. Results : After ten sessions of Sa-am acupuncture and Moxibustion, patient's urinary symptoms were evaluated by OABSS, Bladder diary, and KHQ. After the treatment, total OABSS score decreased from 9 to 5. The frequency of Urgency decreased from 4 to 1. The Urgency grade decreased 4~5 to 1. The mean number of pad changing decreased 3.5 to 1. The score of Role Limitations, Physical Limitations, Social Limitations, Emotions in KHQ decreased. Conclusions : The results suggest that Sa-am acupuncture and Moxibustion can be a valuable option in treating urgency by OAB.

• 대한한방부인과학회지
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• 제31권1호
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• pp.84-98
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• 2018

Objectives: The purpose of this pilot study was to examine the feasibility of recruiting women into a clinical trial designed to examine the effects of acupuncture and electroacupuncture in treating overactive bladder (OAB) in menopause women. We tried to determine if there was preliminary evidence to suggest that acupuncture may be effective in reducing OAB symptoms and improving disease-specific quality of life. We also tried to determine the appropriate treatment duration of OAB, with safety of performing acupuncture and electroacupuncture treatment. Methods: This study was a randomized clinical trial. 7 menopause women were randomly assigned to a electroacupuncture group (EA group) (n=4) or acupuncture group (AC group) (n=3) and received electroacupuncture or acupuncture treatment twice a week (16 sessions) in 8 weeks, and follow up assessment was performed after the end of treatment. Overactive Bladder Symptom Score (OABSS), 3-day bladder diary, and King's Health Questionnaire (KHQ) were performed 4 times (at baseline (visit 0), the middle of treatment (visit 8), after the end of treatment (visit 16), and at 4 weeks of follow-up (visit 17)) and analyzed. 2 subjects were dropped out, and finally 5 subjects completed the study. Statistical analysis was performed using SPSS 18.0 for window program. Results: There was an significant improvement in night-time frequency after the treatment (visit 17) in PP (Per-protocol) group analysis (p=0.042). In additional ITT (Inter-to-treat) group analysis, the OABSS (p=0.042) and night-time frequency (p=p=0.017) were improved significantly after the treatment (visit 17). But there was no significant difference of KHQ before and after the treatment. Also there was no significant difference between EA and AC group after the treatment (visit 16, 17). Conclusions: The results of this pilot study suggested that it was feasible to recruit subjects and perform the study procedures, after reconstructing several details of study protocol in performing further clinical trial.

• 대한한방내과학회지
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• 제41권5호
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• pp.724-733
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• 2020

Objective: Overactive bladder syndrome refers to the symptom of frequent urination, as the function of the bladder is so sensitive that the bladder muscles contract regardless of the patient's intent and the patient feels the need to urinate quickly. Overactive bladder syndrome is common among the elderly, especially in women, and the prevalence increases with increasing age. Overactive bladder can decrease social activity, increase isolation, and decrease quality of life due to sleep disorders caused by night urination; therefore, active treatment is required. In this study, we report the effects of Korean medical treatment on a Korean hospital patient with overactive bladder symptoms, including urine frequency, urine incontinence, and night urination that began at a similar time to an onset of coughing. Methods: We treated the patient with herbal medicines and acupuncture therapy. The International Prostate Symptom Score (IPSS), Overactive Bladder Symptom Score (OABSS), and a numeric rating scale (NRS) were used to assess symptom changes. Results: The patient with urine frequency, urine incontinence, and nocturia was hospitalized for 8 days, and the overall symptoms of overactive bladder syndrome were improved. Conclusion: The results indicate that Korean medical treatment is effective in patients with overactive bladder syndrome.

• Childhood Kidney Diseases
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• 제17권2호
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• pp.73-78
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• 2013

목적: 마제신은 신장융합(renal fusion)을 가진 가장 흔한 신기형이다. 저자들은 단일병원에서 관찰된 마제신 환자들의 동반 질환을 포함한 임상적 특징을 조사하고자 하였다. 방법: 2000년 1월부터 2012년 12월까지 부산백병원에서 영상의학적 방법에 의해 마제신으로 진단된 환자 43명을 대상 (소아군 14례, 성인군 29례)으로 후향적으로 의무기록을 분석하였다. 또한 소아군과 성인군의 자료를 비교 분석하였다. 결과: 전체 환자의 진단당시의 평균 연령의 중간값은 34세이었고, 성별은 남자 17명 여자 26명 이었다. 소아군(<18세, 14명)의 평균연령은 $6.7{\pm}6.2$세, 남자가 5명이 있었다. 진단 시 혈뇨를 보인 1명을 제외한 대부분 동반 질환의 평가 도중 우연히 발견되었다. 동반된 질환으로는 터너증후군이 5례(36%)로 가장 많았고, 동반된 비뇨기계 기형으로는 2명(14.2%)에서 신우요관협착을 동반하였다. 신기능은 마지막 추적검사까지 모두 정상이었다. 성인군에서 진단된 29명의 진단 당시 연령 중간값은 48세이었고, 남자가 12명 여자 17명이 있었다. 진단 시 다른 질환의 평가 중 18명이 우연히 발견되었으며, 11명은 혈뇨 또는 결석으로 인한 복통 등이 있었다. 동반질환으로는 터너증후군이 5례로 가장 많았으며, 5명에서 신우요관협착이 동반되었고, 그 외 수신증, 과민성 방광 등을 동반하였다. 마지막 추적검사에서 6명(21%)에서 신기능감소(혈청Cr>1.5)가 관찰되었다. 결론: 마제신은 우연히 발견되는 경우가 대부분으로, 동반된 단일 질환으로는 터너증후군이 가장 많았다. 성인기로 이행 후 다양한 비뇨기과적 합병증의 위험이 높으므로 지속적인 추적 관찰이 필요하다.