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A Case of Urologic Manifestation of IARS2-associated Leigh Syndrome (IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례)

  • Hyunjoo Lee;Ji-Hoon Na;Young-Mock Lee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.1
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    • pp.25-30
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    • 2023
  • Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

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Etiology and Risk Factors of Community-Acquired Pneumonia in Hospitalized Children During the COVID-19 Pandemic in South Korea (국내 코로나19 판데믹 기간 발생한 입원을 요하는 소아청소년 지역사회폐렴의 원인과 위험 인자)

  • Hae Min Kang;Seung Ha Song;Bin Ahn;Ji Young Park;Hyunmi Kang;Byung Ok Kwak;Dong Hyun Kim;Joon Kee Lee;Soo-Han Choi ;Jae Hong Choi;Eun Hwa Choi;Ki Wook Yun
    • Pediatric Infection and Vaccine
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    • v.30 no.1
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    • pp.20-32
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    • 2023
  • Purpose: This study aimed to identify the etiology and risk factors of community-acquired pneumonia (CAP) requiring hospitalization in Korean children during the coronavirus disease 2019 (COVID-19) pandemic. Methods: Clinical information of children admitted with CAP to Seoul National University Children's Hospital (SNUCH) between January 1, 2021, and February 28, 2022, was retrospectively collected and analyzed. In addition, the etiologic diagnosis and demographic data of children with CAP who were discharged at the other seven hospitals between January and February 2022 were collected. Pneumonia was diagnosed using strict criteria comprising clinical symptoms, physical examination findings, and chest radiographic findings. Results: Among 91 children hospitalized with CAP at SNUCH during the 14-month period, 68.4% were aged <5 years and 79.1% had underlying diseases. Among the 95 CAP cases, respiratory assistance was required in 70.5%, and the use of a ventilator was required in 20.0%. A total of five patients expired, all of whom were either immunocompromised or had underlying neurological diseases. Neurological diseases and immunosuppression were significantly correlated with respiratory assistance (P=0.003) and death (P=0.014). A total of 55% of the detected respiratory pathogens were viruses, the most common of which was rhinovirus at 35.9%. Among the 169 children hospitalized for CAP at the eight institutions, ≥1 respiratory virus was detected in 92.3%, among which respiratory syncytial virus (79.8%) was the most prevalent. Conclusions: Even during the COVID-19 pandemic, Korean children were hospitalized with CAP caused by seasonal respiratory viral pathogens. Although atypical and pyogenic bacteria were not detected, continuous clinical monitoring and further prospective studies should be conducted.

Developing a Tool to Assess Competency to Consent to Treatment in the Mentally Ill Patient: Reliability and Validity (정신장애인의 치료동의능력 평가 도구 개발 : 신뢰도와 타당화)

  • Seo, Mi-Kyoung;Rhee, MinKyu;Kim, Seung-Hyun;Cho, Sung-Nam;Ko, Young-hun;Lee, Hyuk;Lee, Moon-Soo
    • Korean Journal of Health Psychology
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    • v.14 no.3
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    • pp.579-596
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    • 2009
  • This study aimed to develop the Korean tool of competency to consent to psychiatric treatment and to analyze the reliability and validity of this tool. Also the developed tool's efficiency in determining whether a patient possesses treatment consent competence was checked using the Receiver Operating Characteristic curve and the relevant indices. A total of 193 patients with mental illness, who were hospitalized in a mental hospital or were in community mental health center, participated in this study. We administered a questionnaire consisting of 14 questions concerning understanding, appreciation, reasoning ability, and expression of a choice to the subjects. To investigate the validity of the tool, we conducted the K-MMSE, insight test, estimated IQ, and BPRS. The tool's reliability and usefulness were examined via Cronbach's alpha, ICC, and ROC analysis, and criterion related validation was performed. This tool showed that internal consistency and agreement between raters was relatively high(ICC .80~.98, Cronbach's alpha .56~.83)and the confirmatory factor analysis for constructive validation showed that the tool was valid. Also, estimated IQ, and MMSE were significantly correlated to understanding, appreciation, expression of a choice, and reasoning ability. However, the BPRS did not show significant correlation with any subcompetences. In ROC analysis, full scale cutoff score 18.5 was suggested. Subscale cutoff scores were understanding 4.5, appreciation 8.5, reasoning ability 3.5, and expression of a choice 0.5. These results suggest that this assessment tool is reliable, valid and efficient diagnostically. Finally, limitations and implications of this study were discussed.

Association Between Psychiatric Medications and Urinary Incontinence (정신과 약물과 요실금의 연관성)

  • Jaejong Lee;SeungYun Lee;Hyeran Ko;Su Im Jin;Young Kyung Moon;Kayoung Song
    • Korean Journal of Psychosomatic Medicine
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    • v.31 no.2
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    • pp.63-71
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    • 2023
  • Urinary incontinence (UI), affecting 3%-11% of males and 25%-45% of females globally, is expected to rise with an aging population. It significantly impacts mental health, causing depression, stress, and reduced quality of life. UI can exacerbate psychiatric conditions, affecting treatment compliance and effectiveness. It is categorized into transient and chronic types. Transient UI, often reversible, is caused by factors summarized in the acronym DIAPPERS: Delirium, Infection, Atrophic urethritis/vaginitis, Psychological disorders, Pharmaceuticals, Excess urine output, Restricted mobility, Stool impaction. Chronic UI includes stress, urge, mixed, overflow, functional, and persistent incontinence. Drug-induced UI, a transient form, is frequently seen in psychiatric treatment. Antipsychotics, antidepressants, and other psychiatric medications can cause UI through various mechanisms like affecting bladder muscle tone, altering nerve reflexes, and inducing other conditions like diabetes or epilepsy. Specific drugs like lithium and valproic acid have also been linked to UI, though mechanisms are not always clear. Managing UI in psychiatric patients requires careful monitoring of urinary symptoms and judicious medication management. If a drug is identified as the cause, options include discontinuing, reducing, or adjusting the dosage. In cases where medication continuation is necessary, additional treatments like desmopressin, oxybutynin, trihexyphenidyl, or amitriptyline may be considered.

Randomized Controlled Clinical Trials of Warm Herbal Foot Bath Therapy for Insomnia: A Literature Review Based on the CNKI (불면증에 대한 한방 족욕요법의 무작위 대조군 임상연구 현황 : CNKI를 중심으로)

  • Chan-Young Kwon;Boram Lee;Kyoungeun Lee
    • The Journal of Internal Korean Medicine
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    • v.44 no.4
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    • pp.726-740
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    • 2023
  • Objectives: This review investigated the research on warm herbal foot bath therapy (WHFT) for insomnia. Methods: A search was conducted on the China National Knowledge Infrastructure (CNKI) database to collect relevant studies published up to August 29, 2023. Randomized controlled trials (RCTs) comparing WHFT and sleeping pills in patients with insomnia were included. The methodological quality of the included studies was assessed using the Cochrane risk-of-bias assessment tool. The results of the meta-analysis were presented as risk ratios (RRs) or mean differences (MDs) and their 95% confidence intervals (CIs). Results: A total of 11 RCTs were included. WHFT as monotherapy resulted in a significantly higher total effective rate (TER) (RR, 1.25; 95% CI, 1.15 to 1.36; I2=25%) and an improved Pittsburgh Sleep Quality Index (PSQI) global sore (MD, -3.10; 95% CI, -4.24 to -1.95; I2=73%) compared to benzodiazepines. Additionally, WHFT as a combined therapy with benzodiazepines resulted in a significantly higher TER (RR, 1.15; 95% CI, 1.04 to 1.27; I2=0%) and an improved PSQI global score (MD, -2.23; 95% CI, -4.09 to -0.38; I2=80%) compared to benzodiazepines alone. In network analysis visualizing the components of HWFT, four clusters were discovered, and Polygoni Multiflori Ramuls and Ziziphi Spinosae Semen were the key herbs used in WHFT. Overall, the methodological quality of the included studies was poor. Conclusions: There was limited evidence that WHFT as a monotherapy or combined therapy was effective in improving insomnia. The findings can be used as basic data for future WHFT research in South Korea.

From a Defecation Alert System to a Smart Bottle: Understanding Lean Startup Methodology from the Case of Startup "L" (배변알리미에서 스마트바틀 출시까지: 스타트업 L사 사례로 본 린 스타트업 실천방안)

  • Sunkyung Park;Ju-Young Park
    • Asia-Pacific Journal of Business Venturing and Entrepreneurship
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    • v.18 no.5
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    • pp.91-107
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    • 2023
  • Lean startup is a concept that combines the words "lean," meaning an efficient way of running a business, and "startup," meaning a new business. It is often cited as a strategy for minimizing failure in early-stage businesses, especially in software-based startups. By scrutinizing the case of a startup L, this study suggests that lean startup methodology(LSM) can be useful for hardware and manufacturing companies and identifies ways for early startups to successfully implement LSM. To this end, the study explained the core of LSM including the concepts of hypothesis-driven approach, BML feedback loop, minimum viable product(MVP), and pivot. Five criteria to evaluate the successful implementation of LSM were derived from the core concepts and applied to evaluate the case of startup L . The early startup L pivoted its main business model from defecation alert system for patients with limited mobility to one for infants or toddlers, and finally to a smart bottle for infants. In developing the former two products, analyzed from LSM's perspective, company L neither established a specific customer value proposition for its startup idea and nor verified it through MVP experiment, thus failed to create a BML feedback loop. However, through two rounds of pivots, startup L discovered new target customers and customer needs, and was able to establish a successful business model by repeatedly experimenting with MVPs with minimal effort and time. In other words, Company L's case shows that it is essential to go through the customer-market validation stage at the beginning of the business, and that it should be done through an MVP method that does not waste the startup's time and resources. It also shows that it is necessary to abandon and pivot a product or service that customers do not want, even if it is technically superior and functionally complete. Lastly, the study proves that the lean startup methodology is not limited to the software industry, but can also be applied to technology-based hardware industry. The findings of this study can be used as guidelines and methodologies for early-stage companies to minimize failures and to accelerate the process of establishing a business model, scaling up, and going global.

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Feasibility of Pediatric Low-Dose Facial CT Reconstructed with Filtered Back Projection Using Adequate Kernels (필터보정역투영과 적절한 커널을 이용한 소아 저선량 안면 컴퓨터단층촬영의 시행 가능성)

  • Hye Ji;Sun Kyoung You;Jeong Eun Lee;So Mi Lee;Hyun-Hae Cho;Joon Young Ohm
    • Journal of the Korean Society of Radiology
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    • v.83 no.3
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    • pp.669-679
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    • 2022
  • Purpose To evaluate the feasibility of pediatric low-dose facial CT reconstructed with filtered back projection (FBP) using adequate kernels. Materials and Methods We retrospectively reviewed the clinical and imaging data of children aged < 10 years who underwent facial CT at our emergency department. The patients were divided into two groups: low-dose CT (LDCT; Group A, n = 73) with a fixed 80-kVp tube potential and automatic tube current modulation (ATCM) and standard-dose CT (SDCT; Group B, n = 40) with a fixed 120-kVp tube potential and ATCM. All images were reconstructed with FBP using bone and soft tissue kernels in Group A and only bone kernel in Group B. The groups were compared in terms of image noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR). Two radiologists subjectively scored the overall image quality of bony and soft tissue structures. The CT dose index volume and dose-length product were recorded. Results Image noise was higher in Group A than in Group B in bone kernel images (p < 0.001). Group A using a soft tissue kernel showed the highest SNR and CNR for all soft tissue structures (all p < 0.001). In the qualitative analysis of bony structures, Group A scores were found to be similar to or higher than Group B scores on comparing bone kernel images. In the qualitative analysis of soft tissue structures, there was no significant difference between Group A using a soft tissue kernel and Group B using a bone kernel with a soft tissue window setting (p > 0.05). Group A showed a 76.9% reduction in radiation dose compared to Group B (3.2 ± 0.2 mGy vs. 13.9 ± 1.5 mGy; p < 0.001). Conclusion The addition of a soft tissue kernel image to conventional CT reconstructed with FBP enables the use of pediatric low-dose facial CT protocol while maintaining image quality.

Patterns in the Use and Perception of Digital Breast Tomosynthesis: A Survey of Korean Breast Radiologists (디지털 유방 토모신테시스에 대한 국내 사용 현황과 인식에 관한 설문조사 연구)

  • Eun Young Chae;Joo Hee Cha;Hee Jung Shin;Woo Jung Choi;Jihye Kim;Sun Mi Kim;Hak Hee Kim
    • Journal of the Korean Society of Radiology
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    • v.83 no.6
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    • pp.1327-1341
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    • 2022
  • Purpose To evaluate the pattern of use and the perception of digital breast tomosynthesis (DBT) among Korean breast radiologists. Materials and Methods From March 22 to 29, 2021, an online survey comprising 27 questions was sent to members of the Korean Society of Breast Imaging. Questions related to practice characteristics, utilization and perception of DBT, and research interests. Results were analyzed based on factors using logistic regression. Results Overall, 120 of 257 members responded to the survey (response rate, 46.7%), 67 (55.8%) of whom reported using DBT. The overall satisfaction with DBT was 3.31 (1-5 scale). The most-cited DBT advantages were decreased recall rate (55.8%), increased lesion conspicuity (48.3%), and increased cancer detection (45.8%). The most-cited DBT disadvantages were extra cost for patients (46.7%), insufficient calcification characterization (43.3%), insufficient improvement in diagnostic performance (39.2%), and radiation dose (35.8%). Radiologists reported increased storage requirements and interpretation time for barriers to implementing DBT. Conclusion Further improvement of DBT techniques reflecting feedback from the user's perspective will help increase the acceptance of DBT in Korea.

Construction of a Standard Dataset for Liver Tumors for Testing the Performance and Safety of Artificial Intelligence-Based Clinical Decision Support Systems (인공지능 기반 임상의학 결정 지원 시스템 의료기기의 성능 및 안전성 검증을 위한 간 종양 표준 데이터셋 구축)

  • Seung-seob Kim;Dong Ho Lee;Min Woo Lee;So Yeon Kim;Jaeseung Shin;Jin‑Young Choi;Byoung Wook Choi
    • Journal of the Korean Society of Radiology
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    • v.82 no.5
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    • pp.1196-1206
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    • 2021
  • Purpose To construct a standard dataset of contrast-enhanced CT images of liver tumors to test the performance and safety of artificial intelligence (AI)-based algorithms for clinical decision support systems (CDSSs). Materials and Methods A consensus group of medical experts in gastrointestinal radiology from four national tertiary institutions discussed the conditions to be included in a standard dataset. Seventy-five cases of hepatocellular carcinoma, 75 cases of metastasis, and 30-50 cases of benign lesions were retrieved from each institution, and the final dataset consisted of 300 cases of hepatocellular carcinoma, 300 cases of metastasis, and 183 cases of benign lesions. Only pathologically confirmed cases of hepatocellular carcinomas and metastases were enrolled. The medical experts retrieved the medical records of the patients and manually labeled the CT images. The CT images were saved as Digital Imaging and Communications in Medicine (DICOM) files. Results The medical experts in gastrointestinal radiology constructed the standard dataset of contrast-enhanced CT images for 783 cases of liver tumors. The performance and safety of the AI algorithm can be evaluated by calculating the sensitivity and specificity for detecting and characterizing the lesions. Conclusion The constructed standard dataset can be utilized for evaluating the machine-learning-based AI algorithm for CDSS.

Utility of the 16-cm Axial Volume Scan Technique for Coronary Artery Calcium Scoring on Non-Enhanced Chest CT: A Prospective Pilot Study (비 조영증강 흉부 CT에서 관상동맥 칼슘스코어 측정을 위한 16 cm 축상 촬영 기법의 유용성: 전향적 탐색적 연구)

  • So Jung Ki;Chul Hwan Park;Kyunghwa Han;Jae Min Shin;Ji Young Kim;Tae Hoon Kim
    • Journal of the Korean Society of Radiology
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    • v.82 no.6
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    • pp.1493-1504
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    • 2021
  • Purpose This study aimed to evaluate the utility of the 16-cm axial volume scan technique for calculating the coronary artery calcium score (CACS) using non-enhanced chest CT. Materials and Methods This study prospectively enrolled 20 participants who underwent both, non-enhanced chest CT (16-cm-coverage axial volume scan technique) and calcium-score CT, with the same parameters, differing only in slice thickness (in non-enhanced chest CT = 0.625, 1.25, 2.5 mm; in calcium score CT = 2.5 mm). The CACS was calculated using the conventional Agatston method. The difference between the CACS obtained from the two CT scans was compared, and the degree of agreement for the clinical significance of the CACS was confirmed through sectional analysis. Each calcified lesion was classified by location and size, and a one-to-one comparison of non-contrast-enhanced chest CT and calcium score CT was performed. Results The correlation coefficients of the CACS obtained from the two CT scans for slice thickness of 2.5, 1.25, and 0.625 mm were 0.9850, 0.9688, and 0.9834, respectively. The mean differences between the CACS were -21.4% at 0.625 mm, -39.4% at 1.25 mm, and -76.2% at 2.5 mm slice thicknesses. Sectional analysis revealed that 16 (80%), 16 (80%), and 13 (65%) patients showed agreement for the degree of coronary artery disease at each slice interval, respectively. Inter-reader agreement was high for each slice interval. The 0.625 mm CT showed the highest sensitivity for detecting calcified lesions. Conclusion The values in the non-contrast-enhanced chest CT, using the 16-cm axial volume scan technique, were similar to those obtained using the CACS in the calcium score CT, at 0.625 mm slice thickness without electrocardiogram gating. This can ultimately help predict cardiovascular risk without additional radiation exposure.