Journal of the Formosan Medical Association最新文献

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Authors' reply: Late creation of vascular access for hemodialysis increased post-hemodialysis mortality, hospitalization, and total health-care expenditure: A population-based cohort study in Taiwan. Journal of the Formosan Medical Association 2024;123:882-890. 作者回复:为血液透析建立血管通路过晚,会增加血液透析后的死亡率、住院率和医疗总支出:台湾一项基于人口的队列研究。台湾医学会杂志》2024;123:882-890。
IF 2.6 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-20 DOI: 10.1016/j.jfma.2024.09.015
Te-Hui Kuo, Chung-Yi Li
{"title":"Authors' reply: Late creation of vascular access for hemodialysis increased post-hemodialysis mortality, hospitalization, and total health-care expenditure: A population-based cohort study in Taiwan. Journal of the Formosan Medical Association 2024;123:882-890.","authors":"Te-Hui Kuo, Chung-Yi Li","doi":"10.1016/j.jfma.2024.09.015","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.015","url":null,"abstract":"","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transfusion safety concerns during the COVID-19 pandemic in Taiwan: Altered by evolving control strategies. 台湾 COVID-19 大流行期间的输血安全问题:因不断演变的控制策略而改变。
IF 2.6 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-20 DOI: 10.1016/j.jfma.2024.09.003
Yun-Yuan Chen, Min-Hui Yang, Jou-Zhen Lai, Jen-Wei Chen, Yun-Long Wang, Cheng-Shen Hung, Chang-Der Kow, Chi-Ling Lin, Sheng-Mou Hou, Ho-Sheng Wu, Sheng-Tang Wei
{"title":"Transfusion safety concerns during the COVID-19 pandemic in Taiwan: Altered by evolving control strategies.","authors":"Yun-Yuan Chen, Min-Hui Yang, Jou-Zhen Lai, Jen-Wei Chen, Yun-Long Wang, Cheng-Shen Hung, Chang-Der Kow, Chi-Ling Lin, Sheng-Mou Hou, Ho-Sheng Wu, Sheng-Tang Wei","doi":"10.1016/j.jfma.2024.09.003","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.003","url":null,"abstract":"<p><strong>Background: </strong>In 2022, the SARS-CoV-2 Omicron surge affected 8.8 million people in Taiwan. This study delves into how the transition from containment to mitigation strategies in COVID-19 control has altered concerns regarding transfusion safety.</p><p><strong>Methods: </strong>Blood donations during 2020-2022 in Taiwan were included. Donation details and post-donation information (PDI) were retrieved to assess donation fluctuations and incidences of various PDI. The main effects of PDI reporting were assessed using chi-square test and logistic regression. Additionally, from April to August 2022, we collected disease information from COVID-19 donors, and tested their repository specimens for SARS-CoV-2 RNA and antibodies.</p><p><strong>Results: </strong>Before 2022, when containment measures were in place, only 8 blood donors with COVID-19 reported PDI. However, by mid-2021, there was a significant decrease in blood donations. In 2022, with mitigation strategies implemented, a total of 3483 donations reported COVID-19 PDI. The incidence of all cause PDI increased from 10.5 per 10,000 donations in 2020-2021 to 29.9 per 10,000 in 2022, with nearly 70% of PDI being related to COVID-19. Female donors reported more PDI events. Additionally, the incidence significantly decreased with age. A total of 1148 repository specimens from COVID-19 donor were tested, revealing no detection of SARS-CoV-2 RNA. The seroprevalence rates of anti-nucleocapsid(N) and anti-spike(S) antibodies were 0.61% and 98.4%, respectively.</p><p><strong>Conclusion: </strong>Transfusion safety concerns in Taiwan progressed alongside the evolution of control strategies, with a one-year delay following the pandemic started. The absence of RNAemia among COVID-19 donors indicates that precautionary measures were commensurate with the risk.</p>","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictors of cerebral microbleeds in patients with autosomal dominant polycystic kidney disease. 常染色体显性多囊肾患者脑微小出血的预测因素。
IF 2.6 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-18 DOI: 10.1016/j.jfma.2024.09.020
Ting-Wei Liao, Tai-Shuan Lai, Chih-Horng Wu
{"title":"Predictors of cerebral microbleeds in patients with autosomal dominant polycystic kidney disease.","authors":"Ting-Wei Liao, Tai-Shuan Lai, Chih-Horng Wu","doi":"10.1016/j.jfma.2024.09.020","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.020","url":null,"abstract":"<p><strong>Objectives: </strong>Individuals with autosomal dominant polycystic kidney disease (ADPKD) can present with vascular abnormalities, including intracranial aneurysms. However, whether ADPKD is associated with cerebral small-vessel disease, such as cerebral microbleeds (CM), remains unclear. The study analyzes the prevalence of CM and the associated clinical and radiological factors in patients with ADPKD.</p><p><strong>Methods: </strong>The retrospective study enrolled 140 consecutive patients with ADPKD from July 2014 to May 2023. Brain MRIs were analyzed for the presence of CM with susceptibility-weighted imaging (SWI), which were categorized based on lesion location (lobar, deep, or infratentorial).</p><p><strong>Result: </strong>In this study, the prevalence of CM is 26.4%. Chronic kidney disease (CKD) stage (odds ratio [OR]: 1.40, 95% confidence interval [CI]: 1.04-1.88, p = 0.027) and leukoaraiosis grade (OR: 3.29, 95% CI: 1.43-7.56, p = 0.005) were strongly associated with CM. Additionally, both CKD stage (OR: 1.48, 95% CI: 1.06-2.07, p = 0.023) and leukoaraiosis grade (OR: 2.81, 95% CI: 1.30-6.05, p = 0.008) were associated with lobar microbleeds, whereas only leukoaraiosis grade was also related to deep (OR: 9.00, 95% CI: 3.06-26.44, p < 0.001) and infratentorial (OR: 2.48, 95% CI: 1.10-5.61, p = 0.029) microbleeds. The prediction model based on age, CKD stage and leukoaraiosis grade had diagnostic performance with area under curve: 0.804, 0.688, 0.697, respectively.</p><p><strong>Conclusion: </strong>We recommend that patients with ADPKD who are aged 58 or older, and who have CKD of at least stage 3, undergo brain MRI for detection of CM.</p>","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early prediction of post-endoscopic retrograde cholangiopancreatography pancreatitis via dynamic changes of leukocyte: A retrospective study. 通过白细胞动态变化早期预测内镜逆行胰胆管造影术后胰腺炎:一项回顾性研究。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-17 DOI: 10.1016/j.jfma.2024.09.011
Yu Zhang,Xiao-Ling Ye,Xin-Yue Wan
{"title":"Early prediction of post-endoscopic retrograde cholangiopancreatography pancreatitis via dynamic changes of leukocyte: A retrospective study.","authors":"Yu Zhang,Xiao-Ling Ye,Xin-Yue Wan","doi":"10.1016/j.jfma.2024.09.011","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.011","url":null,"abstract":"BACKGROUNDPost-endoscopic retrograde cholangiopancreatography (ERCP) pancreatitis (PEP) remains a major concern for clinicians. Hence early identification of PEP is meaningful to minimize medical risks.AIMSThis study aims to explore the value of dynamic leukocyte changes for early prediction of PEP.METHODSPatients from January 2017 to December 2018 (training set) and January 2019 to December 2022 (test set) were retrospectively reviewed. The dynamic changes of leukocyte, neutrophil, and lymphocyte were examined to evaluate the diagnostic value of PEP.RESULTSA total of 498 patients (36 PEP cases) in training set and 948 patients (71 PEP cases) in test set were analyzed. Four predictors were finally identified in training set containing margin and ratio of 3h-post ERCP leukocyte count (Po Leu) to pre-ERCP leukocyte count (Pr Leu), 3h post-ERCP neutrophil-to-lymphocyte ratio (NLR) and pre-ERCP fibrinogen levels. ROC analysis revealed the optimal thresholds were 2.3 (x109/L), 1.6, 4.8 and 3.1 (g/L), respectively. The sensitivity and specificity of Po Leu - Pr Leu and Po Leu/Pr Leu were 71.0%, 82.7%, 66.1% and 86.3% to diagnosis PEP in patients with hyperamylasemia.CONCLUSIONSFor early identification of PEP, the elevation of amylase and lipase still exhibits the highest sensitivity, while the dynamic changes of leukocyte would be helpful for the different diagnosis of hyperamylasemia.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142250501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrating traditional Chinese Medicine reduced the risk of hip fracture in patients with dementia. 中西医结合降低了痴呆症患者髋部骨折的风险。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-12 DOI: 10.1016/j.jfma.2024.09.005
Ming-Huei Cheng,Ying-Hsiu Shih,Cheng-Li Lin,Hung-Rong Yen,Mei-Yao Wu
{"title":"Integrating traditional Chinese Medicine reduced the risk of hip fracture in patients with dementia.","authors":"Ming-Huei Cheng,Ying-Hsiu Shih,Cheng-Li Lin,Hung-Rong Yen,Mei-Yao Wu","doi":"10.1016/j.jfma.2024.09.005","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.005","url":null,"abstract":"BACKGROUND/PURPOSEThe high incidence of hip fracture is an important problem among dementia patients because of their higher risk of falls and balance deficits due to a lack of physical activity. The aim of this study was to investigate whether traditional Chinese medicine (TCM) therapy could reduce the risk of hip fracture in dementia patients.METHODSWe identified 38,071 patients who were first diagnosed with dementia from January 1, 2000, to December 31, 2017, from the database of the 2000 Longitudinal Generation Tracking Database (LGTD 2000) provided by the Health and Welfare Data Science Center (HWDC) in Taiwan. Patients who received TCM treatment after the initial diagnosis of dementia were assigned to the TCM group, and patients who never received TCM treatment were assigned to the non-TCM group. After performing 1:1 propensity score matching (1:1) based on age, sex, comorbidities and medication between the TCM and non-TCM groups, there were 902 patients in each group. Patients were followed up to December 31, 2018, and incidences of hip fracture after the initial diagnosis of dementia between the two groups were compared with Cox regression analysis.RESULTSNinety-four patients in the non-TCM group (10.42%) and 58 patients in the TCM group (6.43%) suffered from hip fracture during the follow-up period. Patients in the TCM group had a lower incidence of hip fracture than those in the non-TCM group (adjusted hazard ratio = 0.54, 95% confidence interval = 0.38-0.76).CONCLUSIONSIntegrating TCM health care for dementia patients might reduce the risk of hip fracture.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142250502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on "Large language model application in emergency medicine and critical care". 就 "大语言模型在急诊医学和重症监护中的应用 "发表评论。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-11 DOI: 10.1016/j.jfma.2024.09.009
Hinpetch Daungsupawong,Viroj Wiwanitkit
{"title":"Comment on \"Large language model application in emergency medicine and critical care\".","authors":"Hinpetch Daungsupawong,Viroj Wiwanitkit","doi":"10.1016/j.jfma.2024.09.009","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.009","url":null,"abstract":"","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142250503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical outcomes and predictors in patients with acute on chronic liver failure in Southern Taiwan. 台湾南部急性和慢性肝衰竭患者的临床结果和预测因素。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-10 DOI: 10.1016/j.jfma.2024.08.034
Pao-Yuan Huang,Yu-Cheng Lin,Chih-Chi Wang,Chien-Hung Chen
{"title":"Clinical outcomes and predictors in patients with acute on chronic liver failure in Southern Taiwan.","authors":"Pao-Yuan Huang,Yu-Cheng Lin,Chih-Chi Wang,Chien-Hung Chen","doi":"10.1016/j.jfma.2024.08.034","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.08.034","url":null,"abstract":"BACKGROUND/AIMSThe study is to analyze the clinical characteristics and identify prognostic factors as well as evaluate predictive models in patients with acute-on-chronic liver failure (ACLF) from Southern Taiwan.METHODSThe cohort study was conducted using the Chang Gung Research Database. We included patients with ACLF based on the definition provided by the Asian-Pacific Association for the Study of the Liver ACLF Research Consortium (AARC).RESULTSA total of 231 patients diagnosed with ACLF were included in this study, out of which 26 patients underwent liver transplantation (LT). The primary cause of ACLF was acute exacerbation of hepatitis B virus (HBV) in 68.4% of cases and followed by severe alcoholic hepatitis (20.8%). Among LT-free patients, the 28-day mortality rate was observed to be 31%. Older age, higher INR and ammonia levels, and the presence of severe hepatic encephalopathy on 3-6 days of treatment were independent predictors of 28-day mortality. The CLIF-C ACLF and COSSH-ACLF scores, evaluated on 3-6 days, demonstrated the highest predictive performance for 28-day mortality. The optimal cut-off values for the CLIF-C ACLF and COSSH-ACLF scores were determined to be 47 and 6.3, respectively. Patients with CLIF-C ACLF score >63 or COSSH-ACLF score >8.1 experienced 100% mortality by day 28.CONCLUSIONSThe CLIF-C ACLF and COSSH-ACLF scores, evaluated within one week after treatment, exhibit strong predictive capabilities for short-term mortality in ACLF patients. These models are valuable tools for guiding timely decision-making, including the consideration of liver transplantation or withdrawal from treatment.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142212288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The association between vitamin D consumption and gallstones in US adults: A cross-sectional study from the national health and nutrition examination survey. 美国成年人维生素 D 摄入量与胆结石之间的关系:一项来自全国健康与营养状况调查的横断面研究。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-10 DOI: 10.1016/j.jfma.2024.09.010
Chuxuan Bin,Chuan Zhang
{"title":"The association between vitamin D consumption and gallstones in US adults: A cross-sectional study from the national health and nutrition examination survey.","authors":"Chuxuan Bin,Chuan Zhang","doi":"10.1016/j.jfma.2024.09.010","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.010","url":null,"abstract":"BACKGROUNDGallstone disease is common in the US and Europe. Gallstones are associated with factors such as age, sex, weight, and serum cholesterol levels. A complex relationship exists between vitamin D levels and cholesterol metabolism. However, the relationship between vitamin D level and gallstones remains unclear. This study aimed to investigate whether gallstones are associated with dietary vitamin D (D2+D3) consumption (VDC) in American adults.METHODSThis cross-sectional study used data from people who participated in the National Health and Nutrition Examination Survey between March 2017 and March 2020. Multivariate logistic regression models were used to determine the association between vitamin D intake and the presence of gallstones. Stratified and interaction analyses were performed to determine whether the relationship was stable across different subgroups.RESULTS6873 participants were included. VDC (per 1 SD) was positively associated with gallstones in the crude model (OR: 1.11, 95% Confidence Interval (CI): (1.05-1.17); p < 0.001), Further adjustment did not affect the results. When vitamin D was analyzed using quartiles, with increased quartile of VDC, the incidence of gallstones increased, and the OR of Q2 (OR: 1.08, 95% CI: 0.89-1.32, p = 0.436) and Q3 (OR: 1.55, 95% CI: 1.28-1.87, p < 0.001) was higher than that of Q1 in crude model. After adjusting for covariates, there is a positive association between VDC and incidence of gallstones without statistical significance.CONCLUSIONVDC was positively associated with the incidence of gallstones, however, further studies are required to gather additional evidence.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142212289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictors of left ventricular outflow tract obstruction after biventricular repair in interrupted aortic arch or aortic coarctation. 间断性主动脉弓或主动脉瓣闭锁双心室修补术后左心室流出道梗阻的预测因素。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-10 DOI: 10.1016/j.jfma.2024.09.007
Yi-Chia Wang,Heng-Wen Chou,Chi-Hsiang Huang,Ming-Tai Lin,Chun-An Chen,Shuenn-Nan Chiu,Chun-Wei Lu,Yih-Sharng Chen,Shu-Chien Huang
{"title":"Predictors of left ventricular outflow tract obstruction after biventricular repair in interrupted aortic arch or aortic coarctation.","authors":"Yi-Chia Wang,Heng-Wen Chou,Chi-Hsiang Huang,Ming-Tai Lin,Chun-An Chen,Shuenn-Nan Chiu,Chun-Wei Lu,Yih-Sharng Chen,Shu-Chien Huang","doi":"10.1016/j.jfma.2024.09.007","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.007","url":null,"abstract":"BACKGROUNDLeft ventricular outflow tract obstruction (LVOTO) re-intervention is a significant cause of morbidity and mortality in patients with coarctation of the aorta (CoA) or interrupted aortic arch (IAA) after aortoplasty.METHODSThis retrospective study analyzed data from neonates with IAA/CoA who underwent biventricular repair between 2012 and 2022. LVOTO events were defined by the detection of color Doppler flow acceleration ≥3.0 m/s at the valvular, subvalvular, or supravalvular regions via transthoracic echocardiography, and the necessity for surgical or catheter intervention to relieve the obstruction.RESULTSAmong 121 neonates with CoA/IAA, 16 (13.7%) primary aortoplasty patients developed LVOTO. Additionally, one patient (25%) who underwent a staged Yasui operation developed LVOTO due to a narrowed ventricular septal defect-pulmonary atresia tunnel. During follow-up, 58% of patients with a bicuspid valve and 25% of patients with a subaortic ridge developed LVOTO. The combination of either a bicuspid valve, subaortic ridge, or an aortic valve annulus Z-score < -3.0 predicted a high re-intervention rate (7/8 [87.5%]).CONCLUSIONSIn patients with IAA/CoA, the presence of multiple risk factors, including a bicuspid valve, subaortic ridge, and an aortic valve annulus Z-score < -3.0, is associated with a significantly increased rate of re-intervention for LVOTO.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142212290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular genetic analysis of two novel a allele to cause Ax phenotype in Chinese. 导致中国人 Ax 表型的两个新型 a 等位基因的分子遗传分析。
IF 3.2 3区 医学
Journal of the Formosan Medical Association Pub Date : 2024-09-09 DOI: 10.1016/j.jfma.2024.09.002
Hang Lei,Jiaming Li,Can Lou,Hui Zhang,Yuqing Shen,Naizhu Su,Xuefeng Wang,Xiaohong Cai,Yeling Lu
{"title":"Molecular genetic analysis of two novel a allele to cause Ax phenotype in Chinese.","authors":"Hang Lei,Jiaming Li,Can Lou,Hui Zhang,Yuqing Shen,Naizhu Su,Xuefeng Wang,Xiaohong Cai,Yeling Lu","doi":"10.1016/j.jfma.2024.09.002","DOIUrl":"https://doi.org/10.1016/j.jfma.2024.09.002","url":null,"abstract":"BACKGROUNDMutations of ABO gene may cause the dysfunction of ABO glycosyltransferase (GT) that can result in weak ABO phenotypes. Here, we identified two novel weak ABO subgroup alleles and explored the mechanism that caused Ax phenotype.MATERIALS AND METHODSThe ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of ABO gene. The role of the mutations was evaluated by 3D model, predicting protein structure changes, and in vitro expression assay. The total glycosyltransferase transfer capacity in supernatant of transfected cells was examined.RESULTSThe results of serological showed the subject RJ23 and RJ52 both were Ax phenotypes. The novel A alleles, Avar-1 and Avar-2 were identified according to the gene analysis. Both Avar-1 and Avar-2 harbored recombinant heterozygous alleles, specifically A2.05 and O.01.02. These alleles showcased substitutions at positions c.106G > T, c.189C > T, c.220C > T, and c.1009A > G in their respective exons. It is worth noting that the crossing-over regions of these two alleles differed from each other. In vitro expression study showed that GTA mutant impaired H to A antigen conversion, and the mutant did not affect the production of GTA though the Western bolt. In silico analysis showed that GTA mutant may change the local conformation and the stability of GT.CONCLUSIONSThe Avar-1 and Avar-2 alleles were identified, which could cause the Ax phenotype through changing the local conformation and reducing stability of the GTA.","PeriodicalId":17305,"journal":{"name":"Journal of the Formosan Medical Association","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142212291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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