Oman Medical Journal最新文献

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Polymicrobial Emphysematous Pyelonephritis Secondary to Bifidobacterium breve and Klebsiella pneumoniae in a Diabetic Patient on Peritoneal Dialysis. 腹膜透析的糖尿病患者继发于短双歧杆菌和肺炎克雷伯菌的多微生物性肺气肿性肾盂肾炎。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.18
Isaac Ks Ng, Hui Kai Koh, Haresh Tulsidas
{"title":"Polymicrobial Emphysematous Pyelonephritis Secondary to <i>Bifidobacterium breve</i> and <i>Klebsiella pneumoniae</i> in a Diabetic Patient on Peritoneal Dialysis.","authors":"Isaac Ks Ng, Hui Kai Koh, Haresh Tulsidas","doi":"10.5001/omj.2025.18","DOIUrl":"10.5001/omj.2025.18","url":null,"abstract":"<p><p>Emphysematous pyelonephritis (EPN) is a rare necrotizing infection of the renal parenchyma and pelvicalyceal system caused by gas-forming organisms. We describe a novel case of an elderly woman with poorly controlled diabetes mellitus and end-stage renal failure on peritoneal dialysis, who developed polymicrobial EPN involving the <i>Bifidobacterium breve</i> and <i>Klebsiella pneumoniae</i> pathogens. She was successfully treated with culture-directed parenteral antibiotics and percutaneous drainage of renal collections. To our knowledge, <i>B. breve</i> is a previously unreported cause of EPN. This report highlights its potential in causing opportunistic infections in immunocompromised hosts in the appropriate clinical context.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"1 1","pages":"e764"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12627988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70685964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validating the Arabic Coming Out with Mental Illness Scale (COMIS-Ar). 阿拉伯人出柜心理疾病量表(COMIS-Ar)的验证。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.84
Hissa Mustafa Alabbasi, Zain Yaqoob Alshomeli, Noof Khaled Alabassi, Mai Helmy, Haitham Jahrami
{"title":"Validating the Arabic Coming Out with Mental Illness Scale (COMIS-Ar).","authors":"Hissa Mustafa Alabbasi, Zain Yaqoob Alshomeli, Noof Khaled Alabassi, Mai Helmy, Haitham Jahrami","doi":"10.5001/omj.2025.84","DOIUrl":"10.5001/omj.2025.84","url":null,"abstract":"<p><strong>Objectives: </strong>In Arab cultures, significant social stigma impedes the disclosure of mental illness and seeking professional help. To date, no validated Arabic tool exists to assess these perceived barriers. Therefore, we aimed to translate the Coming Out with Mental Illness Scale (COMIS) into Arabic and validate it for Arabic-speaking populations.</p><p><strong>Methods: </strong>We generated an Arabic translation of COMIS (COMIS-Ar) using standard forward-backward translation procedures. The instrument was tested via a cross-sectional online survey among Arabic-speaking participants. Internal consistency, confirmatory factor analysis (CFA), and model fit indices were assessed.</p><p><strong>Results: </strong>A total of 420 Arabic-speaking adults of median age of 23 years (range 18-60) completed the survey; 73.3% were female. The COMIS-Ar showed overall good internal reliability; Cronbach's alpha (α) = 0.89; McDonald's omega (ω) = 0.90. Factor 1 on 'Benefits of being out' showed good reliability (α = 0.88; ω = 0.88), while Factor 2 on 'Benefits of remaining in' achieved 'excellent' reliability (α = 0.94; ω = 0.94). The overall CFA indicated a structural validity of comparative fit index = 0.83 with a root mean square error of approximation of 0.11, suggesting scope for further refinement.</p><p><strong>Conclusions: </strong>The COMIS-Ar is a reliable and potentially valid instrument, albeit with limitations, to assess mental health disclosure-related barriers among Arabic speakers. As a preliminary model with limited testing, its cautious use may aid clinicians to identify the obstacles, including self-stigma in this population and plan targeted interventions, in addition to enhancing public awareness of mental health stigma. Additional psychometric studies are required to enhance the scale.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e757"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12598542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145496217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rapid Alertness: A Propensity-score Matched, Prospective Observational Study of Remimazolam vs. Propofol Infusion for Sedation in Spinal Anesthesia Non-healthy Patients. 快速警觉性:一项倾向评分匹配的前瞻性观察研究,雷马唑仑与异丙酚输注用于脊髓麻醉非健康患者的镇静。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.76
Antonia Kustura, Lada Lijović, Matea Lončar, Nataša Kovač, Nikola Periša, Marinko Vučić, Martina Radočaj, Tomislav Radočaj
{"title":"Rapid Alertness: A Propensity-score Matched, Prospective Observational Study of Remimazolam vs. Propofol Infusion for Sedation in Spinal Anesthesia Non-healthy Patients.","authors":"Antonia Kustura, Lada Lijović, Matea Lončar, Nataša Kovač, Nikola Periša, Marinko Vučić, Martina Radočaj, Tomislav Radočaj","doi":"10.5001/omj.2025.76","DOIUrl":"10.5001/omj.2025.76","url":null,"abstract":"<p><strong>Objectives: </strong>The demand for procedural sedation is increasing, with propofol remaining a popular choice due to its safety and rapid recovery profile. Remimazolam presents a promising alternative, offering a rapid onset and short duration of action. Its favorable safety profile and suitability for continuous infusion make it particularly advantageous. This study aimed to evaluate recovery times following continuous infusion of remimazolam compared to propofol sedation.</p><p><strong>Methods: </strong>A single-center, prospective, observational study was conducted from February to June 2023 and was approved by the Sestre Milosrdnice University Hospital Center Ethics Committee. Ninety American Society of Anesthesiologists II or III patients undergoing infraumbilical orthopedic, vascular, or inguinal hernia repair surgeries under spinal anesthesia were assigned to receive either remimazolam or propofol sedation. Sedation depth was assessed using bispectral index (BIS), Modified Observer's Assessment of Awareness/Sedation Scale, and Richmond Agitation-Sedation Scale. Sedation onset, duration, and recovery times were recorded, alongside dosage adjustments based on target BIS values of 60-80. Propensity score matching was employed to address confounding variables.</p><p><strong>Results: </strong>Remimazolam exhibited significantly faster recovery times, with a median time to achieve BIS > 80 of 3.0 min (IQR = 2.5), compared to 6.0 min (IQR = 3.0) for propofol, p < 0.001. Remimazolam achieved satisfactory sedative and amnestic effects at a median continuous dose of 0.2 (0.1) mg/kg/h, with comparable sedation durations. Significant differences were observed in intraoperative memory retention: 40.0% of patients in the propofol group vs. 10.0% in the remimazolam group reported memory of the event, p = 0.017.</p><p><strong>Conclusions: </strong>Remimazolam demonstrates superior recovery time and amnestic properties compared to propofol after continuous infusion sedation. Additionally, remimazolam matches or exceeds propofol in efficacy and safety for intraoperative sedation in non-healthy patients undergoing spinal anesthesia.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e753"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12766692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145912475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19 Associated Gastric Mucormycosis: A Case Report. COVID-19相关胃粘膜真菌病1例报告
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.16
Alaa Al Ghafry, Mahmood Masud Al Awfi, Yaqoob Al Sawafi, Nabila Ali Al Julandani
{"title":"COVID-19 Associated Gastric Mucormycosis: A Case Report.","authors":"Alaa Al Ghafry, Mahmood Masud Al Awfi, Yaqoob Al Sawafi, Nabila Ali Al Julandani","doi":"10.5001/omj.2025.16","DOIUrl":"10.5001/omj.2025.16","url":null,"abstract":"<p><p>Mucormycosis is a rare and opportunistic fungal infection caused by the order Mucorales. The emergence of COVID-19 has led to a resurgence of this opportunistic infection. COVID-19 and its management protocols have been implicated in causing this surge due to sequential impaired immunity in affected patients. A high index of suspicion, along with prompt evaluation and management, is advisable for the best clinical outcome.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e762"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare Neuromelioidosis Case that Required Long Intensive Phase Therapy. 需要长时间强化治疗的罕见类神经瘤病病例。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.14
Samhita Ankala, Thomas John, Binoj Varghese
{"title":"Rare Neuromelioidosis Case that Required Long Intensive Phase Therapy.","authors":"Samhita Ankala, Thomas John, Binoj Varghese","doi":"10.5001/omj.2025.14","DOIUrl":"10.5001/omj.2025.14","url":null,"abstract":"<p><p>Melioidosis, an infectious disease caused by Burkholderia pseudomallei, is endemic in tropical regions, including the Indian subcontinent. It can affect several systems in the body and has high mortality and morbidity. Neuromelioidosis is a rare central nervous system manifestation of melioidosis. We report a case of a 37-year-old man who had disseminated melioidosis with severe central nervous system involvement, with radiological demonstration of spread along white matter tracts. Our report emphasizes the importance of prolonged intensive phase therapy in achieving clinical remission and preventing relapse.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"1 1","pages":"e760"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12614884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70685661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Persistent Nonbilious Vomiting in a Six-week-old Infant. 6周大婴儿持续性非胆汁性呕吐1例。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.54
Aftab Anwar, Zainab Al Balushi, Arwa Al-Mujaini, Mahmood Al Riyami, Yusriya Al Rawahi
{"title":"Persistent Nonbilious Vomiting in a Six-week-old Infant.","authors":"Aftab Anwar, Zainab Al Balushi, Arwa Al-Mujaini, Mahmood Al Riyami, Yusriya Al Rawahi","doi":"10.5001/omj.2025.54","DOIUrl":"10.5001/omj.2025.54","url":null,"abstract":"","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e765"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12619914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145541863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence of Obstructive Sleep Apnea Among Patients with Secondary Polycythemia: A Retrospective Cross-sectional Study. 继发性红细胞增多症患者的阻塞性睡眠呼吸暂停患病率:一项回顾性横断面研究。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.82
Ahmed Al-Siyabi, Bader Al-Rawahi, Murtadha Al-Khabouri, Mohammed A Al-Abri
{"title":"Prevalence of Obstructive Sleep Apnea Among Patients with Secondary Polycythemia: A Retrospective Cross-sectional Study.","authors":"Ahmed Al-Siyabi, Bader Al-Rawahi, Murtadha Al-Khabouri, Mohammed A Al-Abri","doi":"10.5001/omj.2025.82","DOIUrl":"10.5001/omj.2025.82","url":null,"abstract":"<p><strong>Objectives: </strong>Obstructive sleep apnea (OSA) and secondary polycythemia occasionally occur together, but their relationship remains unclear. This study aimed to explore the prevalence of OSA among patients with secondary polycythemia in our local population.</p><p><strong>Methods: </strong>In this retrospective cross-sectional study, we screened 524 adult patients with polycythemia who attended the hematology clinic at a major tertiary hospital in Muscat during 2013-2023. Our goal was to identify patients with OSA and secondary polycythemia who also underwent sleep studies and analyzed their data.</p><p><strong>Results: </strong>Out of 524 polycythemia patients, we identified N = 44 patients (8.4%) who had both OSA and secondary polycythemia. The vast majority were male (42/44; 95.5%). Participants' mean age was 40.7 years, with a body mass index of 31.7 kg/m<sup>2</sup>, hemoglobin level of 16.5 g/dL, and hematocrit level of 0.5 L/L. The mean apnea/hypopnea index was 33.3, and the mean desaturation index was 20.3. More than half of the patients (23; 52.3%) had severe OSA (apnea/hypopnea index > 30).</p><p><strong>Conclusions: </strong>The majority of patients with secondary polycythemia had severe OSA. It is likely that OSA may contribute to secondary polycythemia, warranting further investigation.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e755"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12627989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145564459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishing Research Priorities in a Tertiary Care Hospital: A Data-driven and Stakeholder-informed Approach. 建立三级护理医院的研究重点:数据驱动和利益相关者知情的方法。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.88
Hasina A Al Harthi, Maryam S Al Nabhani, Nuha I Al Shaaili, Jehan M Al Fannah, Shaima A Al Hinaai, Safaa A Al Hashmi
{"title":"Establishing Research Priorities in a Tertiary Care Hospital: A Data-driven and Stakeholder-informed Approach.","authors":"Hasina A Al Harthi, Maryam S Al Nabhani, Nuha I Al Shaaili, Jehan M Al Fannah, Shaima A Al Hinaai, Safaa A Al Hashmi","doi":"10.5001/omj.2025.88","DOIUrl":"10.5001/omj.2025.88","url":null,"abstract":"<p><strong>Objectives: </strong>Setting research priorities is essential for optimizing healthcare resource allocation and addressing critical health challenges. We sought to identify data-driven clinical and health service research priorities for the Royal Hospital, Muscat, Oman.</p><p><strong>Methods: </strong>We used a multi-step approach combined with retrospective electronic health record (EHR) analysis with structured and unstructured stakeholder consultations. Findings were validated using the Delphi method through online surveys and face-to-face discussions with 10 key hospital decision-makers.</p><p><strong>Results: </strong>Analysis of EHR data from 652?%567 inpatient admissions over 14 years identified pregnancy-related conditions (25.0%) as the leading cause of hospitalization, followed by circulatory system disease (10.4%) and cancers (8.6%), with breast and colon cancers being the most prevalent. Septicemia, pneumonia, and myocardial infarction were the leading causes of death. Stakeholder consultations emphasized patient-centered care, telemedicine, operational efficiency, and artificial intelligence-driven diagnostics as key health service research priorities. Delphi validation confirmed high relevance (scoring 4?\"5 on a 5-point scale), although feasibility concerns were noted, particularly regarding resource allocation and information technology infrastructure.</p><p><strong>Conclusions: </strong>Our study established research priorities for the Royal Hospital by integrating clinical data analysis with stakeholder engagement to align research efforts with Oman?(tm)s Health Vision 2050. Effective implementation will require a hospital-wide research steering committee to oversee execution, integrate research themes into funding strategies, and enhance data-driven decision-making through artificial intelligence and EHR dashboards. Sustaining momentum necessitates annual reviews with leadership, cross-department collaboration, and capacity-building programs. For long-term sustainability, dedicated hospital funding and public-private partnerships should be explored.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e758"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12703308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Robotic-assisted Versus Conventional Total Hip Arthroplasty: A Systematic Review of Clinical and Radiographic Outcomes. 机器人辅助与传统全髋关节置换术:临床和影像学结果的系统回顾。
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.56
Sarbhjit Singh Lakha Singh, Sarbhan Singh Lakha Singh, Arshad Barmare, Sivashankar Chandrasekaran
{"title":"Robotic-assisted Versus Conventional Total Hip Arthroplasty: A Systematic Review of Clinical and Radiographic Outcomes.","authors":"Sarbhjit Singh Lakha Singh, Sarbhan Singh Lakha Singh, Arshad Barmare, Sivashankar Chandrasekaran","doi":"10.5001/omj.2025.56","DOIUrl":"10.5001/omj.2025.56","url":null,"abstract":"<p><strong>Objectives: </strong>Hip osteoarthritis is a growing global health burden with an increasing demand for total hip arthroplasty (THA), particularly among older populations. Robotic-assisted THA (RATHA) has emerged as a technological advancement that may improve precision, implant alignment, and potentially patient outcomes compared with conventional THA (COTHA). This systematic review aimed to compare the clinical and radiological outcomes of RATHA and COTHA.</p><p><strong>Methods: </strong>A systematic search was conducted from PubMed, Scopus, and Cochrane Library inception until 31 August 2024, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The inclusion criteria were randomized controlled trials, retrospective studies, prospective studies, and cohort studies that compared RATHA with COTHA. Exclusion criteria were case reports, case series, abstracts, review articles, systematic reviews, meta-analyses, biomechanical or cadaveric studies, studies on revision THA or high-grade hip dysplasia, and non-English publications. Data were extracted and assessed using the Covidence systematic review software and the Cochrane Risk of Bias Tool. The primary outcomes were clinical outcomes measured by patient-reported outcome measures. The secondary outcomes were operative outcomes, complications, and radiological assessment.</p><p><strong>Results: </strong>Nine studies met the inclusion criteria, representing populations from Asia, the USA, the UK, and Italy. A total of 933 patients were assessed, 467 of whom underwent RATHA. No significant differences observed in patient-reported outcome measures. COTHA had shorter operative times, whereas RATHA showed potential in reducing hospital stays. RATHA demonstrated improved radiological outcomes, particularly in implant alignment; however, no significant differences were observed in complication rates.</p><p><strong>Conclusions: </strong>RATHA offers advantages in radiological precision but provides clinical outcomes similar to those of COTHA in terms of patient satisfaction and complications. Further high-quality trials are required to assess the long-term benefits of RATHA.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"40 3","pages":"e749"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12665199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145655044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review. SLC25A20 c .199- 10t> G变异的肉毒碱-酰基肉毒碱转位酶缺乏症的选择胚胎成功管理:越南首例病例报告及文献综述
Oman Medical Journal Pub Date : 2025-05-31 eCollection Date: 2025-05-01 DOI: 10.5001/omj.2025.17
Ngoc Bich Trinh, Anh Dinh Bao Vuong, Phuc Nhon Nguyen
{"title":"Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.","authors":"Ngoc Bich Trinh, Anh Dinh Bao Vuong, Phuc Nhon Nguyen","doi":"10.5001/omj.2025.17","DOIUrl":"10.5001/omj.2025.17","url":null,"abstract":"<p><p>Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes. Recently, preimplantation genetic testing (PGT) has emerged as a screening test applicable to embryos produced through in vitro fertilization for genetic analysis before transfer. Thus, PGT allows for the identification and elimination of embryos carrying inherited genetic diseases. This case report aims to present data from PGT on intervention in the management of SLC25A20 c.199-10T>G variation, particularly in middle-income countries. A 26-year-old woman with a high-risk term pregnancy and a history of two sudden neonatal deaths underwent parental carrier testing, revealing heterozygous SLC25A20 c.199-10T>G variation in both parents. The subsequent pregnancy, identified as a homozygous for SLC25A20 c.199-10T>G mutation, was terminated at 20 weeks. The current pregnancy was successfully managed by in vitro fertilization-selective embryo transfer. Carnitine-acylcarnitine translocase deficiency owing to SLC25A20 c.199-10T>G variation can result in sudden neonatal collapse. Obstetricians should maintain a high index of suspicion in recurrent cases of unexplained early neonatal death. Parental carrier testing is crucial for prenatal management, and selective embryo transfer is a core treatment for heterozygous <i>SLC25A20</i> gene carriers in this highly lethal disorder.</p>","PeriodicalId":19667,"journal":{"name":"Oman Medical Journal","volume":"1 1","pages":"e763"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12461142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70685832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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