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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family. 在一个中国家族中发现的导致常染色体显性多囊肾的 PKD2 非典型剪接突变。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-04-01 Epub Date: 2021-11-08 DOI: 10.11622/smedj.2021162
Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu
{"title":"A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family.","authors":"Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu","doi":"10.11622/smedj.2021162","DOIUrl":"10.11622/smedj.2021162","url":null,"abstract":"<p><strong>Introduction: </strong>Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2 , identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively.</p><p><strong>Methods: </strong>In this study, the mutation analysis of polycystic kidney disease (PKD) genes was performed in a Chinese family with suspected ADPKD using targeted clinical exome sequencing (CES). The candidate pathogenic variants were further tested by using Sanger sequencing and validated for co-segregation. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to test for abnormal splicing and assess its potential pathogenicity.</p><p><strong>Results: </strong>A novel atypical splicing mutation that belongs to unclassified variants (UCVs), IVS6+5G>C, was identified in three family members by CES and was shown to co-segregate only with the affected individuals. The RT-PCR revealed the abnormal splicing of exon 6, which thus caused truncating mutation. These findings suggested that the atypical splice site alteration, IVS6+5G>C, in the PKD2 gene was the potential pathogenic mutation leading to ADPKD in this Chinese family.</p><p><strong>Conclusion: </strong>The data available in this study provided strong evidence that IVS6+5G>C is the potential pathogenic mutation for ADPKD. In addition, our findings emphasised the significance of functional analysis of UCVs and genotype-phenotype correlation in ADPKD.</p>","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"229-234"},"PeriodicalIF":1.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11132625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dengue virus infection among renal transplant recipients in Singapore: a 15-year, single-centre retrospective review. 新加坡肾移植受者中的登革热病毒感染情况：一项为期 15 年的单中心回顾性研究。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-04-01 Epub Date: 2021-11-08 DOI: 10.11622/smedj.2021167
Sophie Seine Xuan Tan, Quan Yao Ho, Sobhana Thangaraju, Thuan Tong Tan, Terence Kee, Shimin Jasmine Chung
{"title":"Dengue virus infection among renal transplant recipients in Singapore: a 15-year, single-centre retrospective review.","authors":"Sophie Seine Xuan Tan, Quan Yao Ho, Sobhana Thangaraju, Thuan Tong Tan, Terence Kee, Shimin Jasmine Chung","doi":"10.11622/smedj.2021167","DOIUrl":"10.11622/smedj.2021167","url":null,"abstract":"<p><strong>Introduction: </strong>Dengue is a mosquito-borne viral infection endemic in Singapore. Its impact on renal transplantation is limited to small case series. We aimed to characterise the clinical presentation and outcomes of dengue infection among renal transplant recipients in Singapore.</p><p><strong>Methods: </strong>We conducted a 15-year retrospective review of dengue in renal transplant patients treated at Singapore General Hospital between January 2005 and October 2019. The diagnosis of dengue was made if there were a compatible clinical syndrome and a positive dengue diagnostic assay (dengue non-structural 1 antigen, immunoglobulin M or reverse transcriptase-polymerase chain reaction).</p><p><strong>Results: </strong>Of the 31 patients diagnosed with dengue, 18 (58.1%) were deceased donor recipients. The median age was 52 (interquartile range [IQR] 40-61) years; 16 (51.6%) were females. The median time to diagnosis was 99 (IQR 18-169) months from transplant. The most common clinical symptoms were fever (87.1%), myalgia (41.9%), gastrointestinal symptoms (38.7%) and headache (25.8%). Nineteen (61.3%) patients had dengue without warning signs, nine (29.0%) had dengue with warning signs, three (9.7%) had severe dengue and 30 (96.8%) were hospitalised. Seventeen (54.8%) patients had graft dysfunction, 16 (94.1%) of whom had recovery of graft function. One (3.2%) patient required dialysis and subsequently died. There were two cases of donor-derived infections (DDIs) with favourable outcomes.</p><p><strong>Conclusion: </strong>Our experience with dengue in renal transplant recipients is concordant with published data. Although graft dysfunction is common, it is often transient with favourable outcomes. Outpatient management may be considered for mild infections. Although dengue DDIs are uncommon, more stringent donor screening may be considered in endemic regions.</p>","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"235-241"},"PeriodicalIF":1.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11132622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute pericarditis and cardiac tamponade after COVID-19 vaccination. 接种 Covid-19 疫苗后出现急性心包炎和心脏填塞。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-11-08 DOI: 10.11622/smedj.2021195
Xiayan Shen, Michelle Siew Hui Koh, Benji Yaozong Lim, Marjurie Demo-Os, Jaime Mei Fong Chien, Anindita Santosa, Aza Abdulmawjood Taha
{"title":"Acute pericarditis and cardiac tamponade after COVID-19 vaccination.","authors":"Xiayan Shen, Michelle Siew Hui Koh, Benji Yaozong Lim, Marjurie Demo-Os, Jaime Mei Fong Chien, Anindita Santosa, Aza Abdulmawjood Taha","doi":"10.11622/smedj.2021195","DOIUrl":"10.11622/smedj.2021195","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S20-S23"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Operational requirements of medical posts in migrant worker dormitories during the COVID-19 outbreak in Singapore. 新加坡 COVID-19 爆发期间外来务工人员宿舍医疗站的运作要求。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-11-26 DOI: 10.11622/smedj.2021218
Ying Jang Mok, Qi Wei Fong, Shipei Law, Ee-Jin Darren Seah, Kah Leong Jeffrey Lum, Jia Jin Justin Yeo, Lexin Lee, Sze Wee Erik Ang
{"title":"Operational requirements of medical posts in migrant worker dormitories during the COVID-19 outbreak in Singapore.","authors":"Ying Jang Mok, Qi Wei Fong, Shipei Law, Ee-Jin Darren Seah, Kah Leong Jeffrey Lum, Jia Jin Justin Yeo, Lexin Lee, Sze Wee Erik Ang","doi":"10.11622/smedj.2021218","DOIUrl":"10.11622/smedj.2021218","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S12-S17"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39659176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Burnout, anxiety and depression in healthcare workers during the early COVID-19 period in Singapore. 新加坡医护人员在 COVID-19 早期的职业倦怠、焦虑和抑郁情况。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-10-07 DOI: 10.11622/smedj.2021156
Irene Teo, Sharon Cohan Sung, Yin Bun Cheung, Wei Han Melvin Wong, Fazila Abu Bakar Aloweni, Hui Gek Ang, Tracy Carol Ayre, Crystal Chai-Lim, Robert Chen, Ai Ling Heng, Gayathri Devi Nadarajan, Marcus Eng Hock Ong, Chai Rick Soh, Ban Hock Tan, Kenneth Boon Kiat Tan, Bien Soo Tan, Mann Hong Tan, Puay Hoon Tan, Kenny Xian Khing Tay, Limin Wijaya, Hiang Khoon Tan
{"title":"Burnout, anxiety and depression in healthcare workers during the early COVID-19 period in Singapore.","authors":"Irene Teo, Sharon Cohan Sung, Yin Bun Cheung, Wei Han Melvin Wong, Fazila Abu Bakar Aloweni, Hui Gek Ang, Tracy Carol Ayre, Crystal Chai-Lim, Robert Chen, Ai Ling Heng, Gayathri Devi Nadarajan, Marcus Eng Hock Ong, Chai Rick Soh, Ban Hock Tan, Kenneth Boon Kiat Tan, Bien Soo Tan, Mann Hong Tan, Puay Hoon Tan, Kenny Xian Khing Tay, Limin Wijaya, Hiang Khoon Tan","doi":"10.11622/smedj.2021156","DOIUrl":"10.11622/smedj.2021156","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S26-S29"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39493750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methaemoglobinaemia: a potential confounder in COVID-19 respiratory failure. 高铁血红蛋白血症：COVID-19 呼吸衰竭的潜在混杂因素。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-11-08 DOI: 10.11622/smedj.2021192
Yang Lin Ting, Jonathan Zhao Min Lim, Pei Ming Yeo, Wen Yuan Sim
{"title":"Methaemoglobinaemia: a potential confounder in COVID-19 respiratory failure.","authors":"Yang Lin Ting, Jonathan Zhao Min Lim, Pei Ming Yeo, Wen Yuan Sim","doi":"10.11622/smedj.2021192","DOIUrl":"10.11622/smedj.2021192","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S24-S25"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39854522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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 and its impact on healthcare professionalism: a qualitative study of behaviour among paediatric emergency physicians. COVID-19 及其对医疗保健专业精神的影响：对儿科急诊医生在全球大流行期间行为的定性研究。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-10-31 DOI: 10.11622/smedj.2021170
Kent Mun Loh, Catrin Kar Yee Kong, Sashikumar Ganapathy
{"title":"COVID-19 and its impact on healthcare professionalism: a qualitative study of behaviour among paediatric emergency physicians.","authors":"Kent Mun Loh, Catrin Kar Yee Kong, Sashikumar Ganapathy","doi":"10.11622/smedj.2021170","DOIUrl":"10.11622/smedj.2021170","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S30-S34"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39575958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychological health of graduating medical students during the COVID-19 pandemic: a nationwide survey. COVID-19 时代即将毕业的医学生的心理健康：一项全国性调查。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-10-11 DOI: 10.11622/smedj.2021154
Yi Quan Tan, Lin Kyaw, Ziting Wang, Yen Seow Benjamin Goh
{"title":"Psychological health of graduating medical students during the COVID-19 pandemic: a nationwide survey.","authors":"Yi Quan Tan, Lin Kyaw, Ziting Wang, Yen Seow Benjamin Goh","doi":"10.11622/smedj.2021154","DOIUrl":"10.11622/smedj.2021154","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S46-S50"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39503922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risks of thermal home remedies for COVID-19. 全速前进还是全速前进？COVID-19 中家庭热疗法的风险和益处。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2022-05-25 DOI: 10.11622/smedj.2022062
Changa Kurukularatne
{"title":"Risks of thermal home remedies for COVID-19.","authors":"Changa Kurukularatne","doi":"10.11622/smedj.2022062","DOIUrl":"10.11622/smedj.2022062","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":"1 1","pages":"S2-S4"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64468732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Joining the frontline against the COVID-19 pandemic: perspectives and readiness of graduating medical students. 加入抗击 COVID-19 大流行的前线：即将毕业的医学生的观点和准备情况。
IF 1.7 4区 医学
Singapore medical journal Pub Date : 2024-03-01 Epub Date: 2021-10-24 DOI: 10.11622/smedj.2021155
Joo Wei Chua, Isaac Kah Siang Ng, Zhaojin Chen, Desmond Boon Seng Teo
{"title":"Joining the frontline against the COVID-19 pandemic: perspectives and readiness of graduating medical students.","authors":"Joo Wei Chua, Isaac Kah Siang Ng, Zhaojin Chen, Desmond Boon Seng Teo","doi":"10.11622/smedj.2021155","DOIUrl":"10.11622/smedj.2021155","url":null,"abstract":"","PeriodicalId":21752,"journal":{"name":"Singapore medical journal","volume":" ","pages":"S51-S55"},"PeriodicalIF":1.7,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39550059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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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