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Quality of guidelines for hyperthyroidism: systematic quality assessment using the AGREE II tool. 甲状腺功能亢进症指南的质量:使用 AGREE II 工具进行系统质量评估。
Postgraduate medicine Pub Date : 2025-03-01 Epub Date: 2025-01-14 DOI: 10.1080/00325481.2025.2451019
Yuanshan Wang, Jun Zhang, Xiaoliang Cheng, Xiaoling Duan, Ying Liang, Dali Sun
{"title":"Quality of guidelines for hyperthyroidism: systematic quality assessment using the AGREE II tool.","authors":"Yuanshan Wang, Jun Zhang, Xiaoliang Cheng, Xiaoling Duan, Ying Liang, Dali Sun","doi":"10.1080/00325481.2025.2451019","DOIUrl":"10.1080/00325481.2025.2451019","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to systematically assess the quality of different guidelines for the management of patients with hyperthyroidism and to explore and analyze the recommendations and key evidence in different guidelines.</p><p><strong>Methods: </strong>A systematic search of databases and websites was conducted to identify treatment guidelines for hyperthyroidism. The quality of the included guidelines was assessed using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool. To evaluate the level of agreement among the guidelines, we employed the Measurement Scale of Rate of Agreement (MSRA), extracting and analyzing the evidence supporting these recommendations.</p><p><strong>Results: </strong>Eleven guidelines for the management of patients with hyperthyroidism were identified. The guidelines from the American Thyroid Association (ATA), the Japanese Thyroid Association (JTA), the European Thyroid Association (ETA, 2022) and the Chinese Medical Association (CMA) had overall quality scores greater than 60% and warranted clinical recommendation. Recommendations vary widely across guidelines, and the main reasons included different emphases on the diagnosis of hyperthyroidism, different target populations, irrational selection of evidence and geographic variation.</p><p><strong>Conclusions: </strong>The quality of hyperthyroidism treatment guidelines is variable, and treatment recommendations vary greatly from guideline between guidelines. Analyzing and improving the causes of inconsistencies in recommendations for patients with hyperthyroidism could be a reasonable and effective way for developers to improve the quality of guidelines for the management of hyperthyroidism.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"139-147"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142974017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thickening liquids for pediatric dysphagia: a perspective from clinical practice. 增稠液治疗小儿吞咽困难:从临床实践看。
Postgraduate medicine Pub Date : 2025-03-01 Epub Date: 2025-02-05 DOI: 10.1080/00325481.2025.2457318
Karen van Hulst, Esther van Ijken, Leonie van Vliet
{"title":"Thickening liquids for pediatric dysphagia: a perspective from clinical practice.","authors":"Karen van Hulst, Esther van Ijken, Leonie van Vliet","doi":"10.1080/00325481.2025.2457318","DOIUrl":"10.1080/00325481.2025.2457318","url":null,"abstract":"<p><strong>Background: </strong>Dysphagia is a common condition in infants and young children, particularly among those with neurodevelopmental disabilities. The management of pediatric dysphagia requires customized approaches based on individual clinical features. This report describes our experience in managing pediatric dysphagia using a locust bean- and xanthan gum-based thickener (ThickenUp® Junior), which offers stable consistency and preserves the original taste of liquids.</p><p><strong>Case report: </strong>Four cases were discussed to highlight the use of the new thickener. Each case illustrates different aspects of dysphagia management, such as improving swallowing safety, enhancing oral control, and maintaining nutritional intake through tailored thickening strategies. Our experience demonstrates the importance of using specialized thickening agents to prevent aspiration pneumonia and, ultimately, improve the well-being of affected children. We also highlighted the importance of individualized treatment plans, which consider each child's unique needs. A comprehensive evaluation by a multidisciplinary team led to an effective treatment strategy tailored to the child's specific condition and challenges.</p><p><strong>Conclusions: </strong>The new locust bean- and xanthan gum-based thickener is effective in managing dysphagia and preventing complications in infants and young children. Such agents can improve swallowing safety, enhance oral control, and maintain nutritional intake, ultimately improving the well-being of the affected children.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"113-120"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Post cardiac surgery acute kidney injury and the role of intravenous amino acids infusions. 心脏手术后急性肾损伤及静脉输注氨基酸的作用。
Postgraduate medicine Pub Date : 2025-03-01 Epub Date: 2025-01-20 DOI: 10.1080/00325481.2025.2455370
Muhammad Adnan Zaman, Zongaho Pan
{"title":"Post cardiac surgery acute kidney injury and the role of intravenous amino acids infusions.","authors":"Muhammad Adnan Zaman, Zongaho Pan","doi":"10.1080/00325481.2025.2455370","DOIUrl":"10.1080/00325481.2025.2455370","url":null,"abstract":"","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"109-112"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of plasma aldosterone concentration with arterial stiffness progression in hypertensive patients: insights from a longitudinal analysis. 高血压患者血浆醛固酮浓度与动脉僵硬进展的关系:来自纵向分析的见解。
Postgraduate medicine Pub Date : 2025-03-01 Epub Date: 2025-02-01 DOI: 10.1080/00325481.2025.2460417
Pan Zhou, Xintian Cai, Shuaiwei Song, Junli Hu, Qing Zhu, Huimin Ma, Yingying Zhang, Rui Ma, Di Shen, Wenbo Yang, Jing Hong, Nanfang Li
{"title":"Association of plasma aldosterone concentration with arterial stiffness progression in hypertensive patients: insights from a longitudinal analysis.","authors":"Pan Zhou, Xintian Cai, Shuaiwei Song, Junli Hu, Qing Zhu, Huimin Ma, Yingying Zhang, Rui Ma, Di Shen, Wenbo Yang, Jing Hong, Nanfang Li","doi":"10.1080/00325481.2025.2460417","DOIUrl":"10.1080/00325481.2025.2460417","url":null,"abstract":"<p><strong>Purpose: </strong>Limited studies have examined the relationship between plasma aldosterone concentration (PAC) and arterial stiffness progression. This study aimed to investigate the longitudinal association between baseline PAC and arterial stiffness progression in hypertensive patients.</p><p><strong>Patients and methods: </strong>This was a longitudinal study conducted at the Hypertension Center of People's Hospital of Xinjiang Uygur Autonomous Region between April 2020 and October 2023. The study included 1,138 hypertensive patients who had completed two measurements of brachial-ankle pulse wave velocity (baPWV) over the study period. Arterial stiffness was quantified using baPWV, and progression was assessed by the baPWV change rate, calculated as the absolute difference between baseline and follow-up baPWV divided by the follow-up time in years. The primary outcome was the association between baseline PAC and baPWV change rate.</p><p><strong>Results: </strong>Multivariate linear regression analyses indicated that a 10-unit increase in baseline PAC was significantly associated with a 19.60 cm/s/year increase in baPWV change rate (95% CI, 9.93 to 29.21). This association remained significant after adjusting for potential confounders, including age, sex, body mass index, smoking status, systolic and diastolic blood pressure, total cholesterol, and the use of antihypertensive medications. Multivariable restricted cubic splines analysis confirmed a significant dose-response relationship between baseline PAC and baPWW change rate (P for overall trend = 0.002).</p><p><strong>Conclusion: </strong>Higher baseline PAC levels were associated with faster progression of arterial stiffness in hypertensive patients, suggesting a potential role for aldosterone in vascular health. These findings warrant further investigation.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"164-173"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preoperative intravenous versus oral iron supplementation for elective surgery: evidence based on 12 randomized trials. 择期手术术前静脉与口服补铁:基于12个随机试验的证据
Postgraduate medicine Pub Date : 2025-03-01 Epub Date: 2025-01-26 DOI: 10.1080/00325481.2025.2454218
Lei Yue, Jianming Zhang, Chao Li, Ziqi Wang, Longtao Qi, Yao Zhao, Shijun Wang, Meixia Shang, Chunde Li, Haolin Sun
{"title":"Preoperative intravenous versus oral iron supplementation for elective surgery: evidence based on 12 randomized trials.","authors":"Lei Yue, Jianming Zhang, Chao Li, Ziqi Wang, Longtao Qi, Yao Zhao, Shijun Wang, Meixia Shang, Chunde Li, Haolin Sun","doi":"10.1080/00325481.2025.2454218","DOIUrl":"10.1080/00325481.2025.2454218","url":null,"abstract":"<p><strong>Aim: </strong>This study aims to clarify hematological parameters, transfusion requirements, and adverse events of preoperative intravenous (IVIS) versus oral iron supplementation (OIS) in elective surgery patients.</p><p><strong>Methods: </strong>We conducted a comprehensive literature search across multiple databases up to 10 December 2023. Twelve RCTs involving 930 participants met our eligibility criteria. Our analysis focused on post-treatment hemoglobin levels, changes in hemoglobin from baseline, ferritin levels, hemoglobin attainment rates, transfusion requirements, and adverse events. We employed the random-effects model for data synthesis, calculating pooled standard mean differences (SMD) or mean differences (MD) or risk ratios (RR) with 95% confidence intervals (CI). Methodological quality was assessed using the Cochrane ROB 2 tool. The GRADE approach evaluated the confidence in effect estimates.</p><p><strong>Findings: </strong>IVIS significantly improved post-treatment hemoglobin levels (MD = 0.77 g/dL, 95% CI [0.30 to 1.23]), hemoglobin increments (MD = 0.69 g/dL, 95% CI [0.01 to 1.37]), and ferritin levels (MD = 260.03 ng/mL, 95% CI [119.65 to 400.42]) compared to OIS. IVIS also led to a higher hemoglobin attainment rate (RR = 1.88, 95% CI [1.24 to 2.86]). No significant differences were noted in transfusion rates or volumes. IVIS was associated with fewer digestive (RR = 0.10, 95% CI [0.05 to 0.22]; I2 = 0%) but more pain-related adverse events (RR = 7.79, 95% CI [1.78 to 34.07]; I2 = 0%). Hospital stay durations and mortality rates were similar between the two groups.</p><p><strong>Interpretation: </strong>IVIS offers a superior improvement in hematological parameters for elective surgery patients but not reducing transfusion needs compared to OIS. While IVIS has fewer digestive adverse events, it increases pain-related complications. These findings highlight the importance of personalized approaches in selecting iron supplementation methods, carefully balancing time, efficacy, and adverse event profiles.</p><p><strong>Registration: </strong>PROSPERO CRD42023483284.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"155-163"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Statement of Retraction: The interaction between insulin resistance and Alzheimer's disease: a review article. 撤回声明:胰岛素抵抗与阿尔茨海默病之间的相互作用:一篇评论文章。
Postgraduate medicine Pub Date : 2025-01-01 Epub Date: 2024-11-28 DOI: 10.1080/00325481.2024.2436247
{"title":"Statement of Retraction: The interaction between insulin resistance and Alzheimer's disease: a review article.","authors":"","doi":"10.1080/00325481.2024.2436247","DOIUrl":"10.1080/00325481.2024.2436247","url":null,"abstract":"","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"108"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Determining the outcome measures and clinical relevance of respiratory muscle training with multiple sclerosis patients: a systematic review. 确定多发性硬化症患者呼吸肌训练的结果测量和临床相关性:系统综述。
Postgraduate medicine Pub Date : 2024-12-24 DOI: 10.1080/00325481.2024.2441105
Veleska Wills, Francesco V Ferraro, Mark A Faghy
{"title":"Determining the outcome measures and clinical relevance of respiratory muscle training with multiple sclerosis patients: a systematic review.","authors":"Veleska Wills, Francesco V Ferraro, Mark A Faghy","doi":"10.1080/00325481.2024.2441105","DOIUrl":"10.1080/00325481.2024.2441105","url":null,"abstract":"<p><p>The following systematic review aimed to gather information on the effectiveness of Respiratory Muscle Training (RMT) with Multiple Sclerosis (MS) patients. The method followed the ENTREQ and PRISMA protocol. MEDLINE, Cochrane, and Science Direct databases were used to source relevant literature. Articles included participants diagnosed with MS in randomized, controlled trial studies with objectively measured outcomes, and RMT methods were standardized. Eleven students were included in the results (<i>n</i> = 396, 50.5 ± 9.8 years, 68% F 31% M) and show that RMT (minimum 8 weeks of training) is effective in improving respiratory muscle strength (MIP in 7 out of 9 studies, MEP in 6 out of 11 studies and FVC in 6 out of 7 studies) and health-related outcomes, including mobility. Although muscle strength increased, increases in FVC had moderate effects on functional ability, which were negligible, and patient-reported fatigue. Findings suggest that muscle strength increases were predominantly in inspiratory muscles, and expiratory results were combined. However, the review shows a lack of research concerning the use of RMT and its prescription for MS patients.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Medication refills do not guarantee medication intake: translation and validation of the Adherence to Refills and Medications Scale in Traditional Chinese among individuals with type 2 diabetes in Taiwan. 补药不能保证服药量:台湾 2 型糖尿病患者补药和服药依从性量表的繁体中文翻译和验证。
Postgraduate medicine Pub Date : 2024-12-24 DOI: 10.1080/00325481.2024.2444258
Yen-Ming Huang, Tzu Wang, Yu-Meng Yang, Yung-Hsuan Chang, Hsun-Yu Chan, Hsiang-Wen Lin
{"title":"Medication refills do not guarantee medication intake: translation and validation of the Adherence to Refills and Medications Scale in Traditional Chinese among individuals with type 2 diabetes in Taiwan.","authors":"Yen-Ming Huang, Tzu Wang, Yu-Meng Yang, Yung-Hsuan Chang, Hsun-Yu Chan, Hsiang-Wen Lin","doi":"10.1080/00325481.2024.2444258","DOIUrl":"10.1080/00325481.2024.2444258","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to translate and validate the Adherence to Refills and Medications Scale into Traditional Chinese (ChARMS-T) and to investigate common barriers to medication adherence among patients with type 2 diabetes (T2D) in Taiwan.</p><p><strong>Methods: </strong>The ChARMS-T was developed through translation and application phases. During the translation phase, the scale underwent forward translation, backward translation, and cognitive debriefing. In the application phase, the finalized ChARMS-T was administered to patients with T2D at five Taiwan community pharmacies over eleven months starting in June 2023. Psychometric properties were assessed using criterion validity, construct validity through confirmatory factor analysis, and reliability through McDonald's omega.</p><p><strong>Results: </strong>A total of 343 participants completed surveys. Factor analysis of the 12-item ChARMS-T revealed two dimensions: medication-taking (8 items) and medication refill (4 items). The instrument demonstrated acceptable internal consistency, with McDonald's omega scores of 0.841 for medication-taking and 0.647 for medication refill. The medication refill subscale showed strong agreement with the objective refill measure, proportion of days covered, with a coefficient of 0.84, suggesting that these measures evaluate similar constructs. Evidence of known-groups validity was demonstrated by a significant difference between ChARMS-T scores and glycemic control (<i>p</i> = 0.047). Patients with good glycemic control had a significantly higher adherence rate to both refills and medication-taking compared to those with poor glycemic control. The most frequently reported barriers to medication-taking were carelessness (55.7%), forgetfulness (54.8%), and frequent dosing intervals (43.1%). For medication refills, 9.6% of the participants identified a lack of planning as the main reason for not refilling their diabetes medications on time, followed by forgetfulness (7.6%).</p><p><strong>Conclusions: </strong>The ChARMS-T identified a broader range of non-adherence reasons and demonstrated good psychometric properties. It can be integrated into practice settings for screening and follow-up to enhance medication adherence through effective communication between healthcare professionals and patients, ultimately improving long-term patient health outcomes.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High prevalence of low bone mineral density in young adults with phenylketonuria. 低骨密度在年轻苯丙酮尿症患者中的高流行率。
Postgraduate medicine Pub Date : 2024-12-24 DOI: 10.1080/00325481.2024.2444873
Kısmet Çıkı, Ayça Burcu Kahraman, Halil Tuna Akar, Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Serap Sivri
{"title":"High prevalence of low bone mineral density in young adults with phenylketonuria.","authors":"Kısmet Çıkı, Ayça Burcu Kahraman, Halil Tuna Akar, Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Serap Sivri","doi":"10.1080/00325481.2024.2444873","DOIUrl":"10.1080/00325481.2024.2444873","url":null,"abstract":"<p><strong>Background: </strong>It has been reported that phenylalanine (Phe)-restricted diets may have negative effects on bone health in patients with classical phenylketonuria (cPKU). We aimed to evaluate bone mineral density (BMD) in adults with cPKU and determine the risk factors associated with low BMD.</p><p><strong>Methods: </strong>Eighty adult patients with cPKU were examined, including 41 women and 39 men. The age range was 18.3-39.4 years (median 22.8). The femoral and lumbar BMD were measured by dual energy X-ray absorptiometry. The patients were evaluated in two groups with low (Z-score ≤-2) and normal BMD (Z-score > -2).</p><p><strong>Results: </strong>Low BMD was detected in 20 patients (25%). The low BMD group had significantly more males (75% vs 40%, <i>p</i> < 0.01) and lower mean body mass index (BMI, 22.4 vs 24.5 kg/m<sup>2</sup>, <i>p</i> = 0.02). Paradoxically, mean blood calcium and 25-hydroxy vitamin D levels were higher in the low BMD group, but only marginally (10.0 vs 9.8 mg/dl and 25.1 vs 21.0 µg/L respectively, <i>p</i> < 0.05). The groups did not differ significantly with regards to age, mean Phe levels at diagnosis, median Phe levels above the age of 12 years, other nutritional parameters or vitamin-mineral supplementation. There was no history of clinical fractures.</p><p><strong>Discussion: </strong>Although osteopenia, osteoporosis and low BMD have been reported in PKU, conflicting data also exist. Our study of a large adult cPKU cohort strongly supports previously published limited data that suggest male sex and low BMI confer a higher risk for low BMD in cPKU; and age, Phe levels and dietary adherence do not. In our study, although the patients were young, low BMD was quite common (25%). Bone health should be evaluated even in young adults with cPKU, especially in males and those with low BMI, regardless of treatment compliance and vitamin-mineral status. Prospective studies reporting on clinical outcomes such as bone pain or fractures will be valuable in the coming years.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever. 基因剂量和发病年龄对家族性地中海热严重程度的影响。
Postgraduate medicine Pub Date : 2024-12-23 DOI: 10.1080/00325481.2024.2444870
Merve Cansu Polat, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Cüneyt Karagöl, Melike Mehveş Kaplan, Nimet Öner, Nilüfer Tekgoz, Didem Öztürk, Emine Özçelik, Mehveş Işıklar Ekici, Yasemin Uğur Es, Serdar Sezer, Banu Çelikel Acar
{"title":"The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.","authors":"Merve Cansu Polat, Elif Çelikel, Zahide Ekici Tekin, Vildan Güngörer, Cüneyt Karagöl, Melike Mehveş Kaplan, Nimet Öner, Nilüfer Tekgoz, Didem Öztürk, Emine Özçelik, Mehveş Işıklar Ekici, Yasemin Uğur Es, Serdar Sezer, Banu Çelikel Acar","doi":"10.1080/00325481.2024.2444870","DOIUrl":"10.1080/00325481.2024.2444870","url":null,"abstract":"<p><strong>Objective: </strong>To compare the demographic and clinical characteristics of familial Mediterranean fever (FMF) patients according to age at disease onset and evaluate the dose effect of the number of pathogenic or likely pathogenic exon 10 mutations of the MEFV gene on disease severity.</p><p><strong>Methods: </strong>This medical record review study was performed on 485 pediatric FMF patients with uni- or biallelic exon 10 mutations of the MEFV gene (M694V, M694I, M680I, V726A, R761H, T267I). Patients were grouped according to age at disease onset (Group 1:<6 years; Group 2:6-11 years; and Group 3:>11 years). Disease severity was assessed by the international severity scoring system for FMF (ISSF).</p><p><strong>Results: </strong>Of the patients, 294 (60.6%) were classified in Group 1, 152 (31.4%) in Group 2 and 39 (8%) in Group 3. The mean elapsed time to diagnosis was 26.7 ± 27.4 months in Group 1 and was higher than the other groups (<i>p</i> < 0.001). During the attack, fever was higher in Group 1, arthritis in Group 2, and chest pain in Group 3 (<i>p</i> < 0.001). The median ISSF score was similar in patients with uni- or biallelic mutations in Group 1 and 3 (<i>p</i> = 0.086, <i>p</i> = 0.35, respectively) but lower in heterozygous patients in Group 2 (<i>p</i> < 0.001). In Groups 1 and 2, mild disease severity was higher in heterozygotes, while moderate disease severity was higher in homozygotes (<i>p</i> = 0.034, <i>p</i> = 0.001, respectively).</p><p><strong>Conclusion: </strong>The presence of pathogenic or likely pathogenic homozygous or compound heterozygous mutations in exon 10 of the MEFV gene in patients with early-onset disease is associated with a more severe disease course compared to patients with heterozygous mutations. The gene dose effect of the number of mutations on disease severity is more common in children aged 6-11 years.</p>","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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