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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。
Pub Date : 2025-03-01 Epub Date: 2025-01-20 DOI: 10.1080/00325481.2025.2455370
Muhammad Adnan Zaman, Zongaho Pan
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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
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

Aim: 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.

Methods: 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.

Findings: 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.

Interpretation: 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.

Registration: PROSPERO CRD42023483284.

目的:本研究旨在阐明择期手术患者术前静脉补铁(IVIS)与口服补铁(OIS)的血液学参数、输血要求和不良事件。方法:截至2023年12月10日,我们在多个数据库中进行了全面的文献检索。12项随机对照试验涉及930名受试者符合我们的资格标准。我们的分析集中在治疗后血红蛋白水平、血红蛋白基线变化、铁蛋白水平、血红蛋白达成率、输血需求和不良事件。我们采用随机效应模型进行数据合成,以95%置信区间(CI)计算合并标准平均差(SMD)或平均差(MD)或风险比(RR)。采用Cochrane ROB 2工具和Jadad评分评估方法学质量。GRADE方法评估效果估计的置信度。结果:与OIS相比,IVIS显著改善了治疗后血红蛋白水平(MD = 0.77 g/dL, 95% CI[0.30 ~ 1.23])、血红蛋白增量(MD = 0.69 g/dL, 95% CI[0.01 ~ 1.37])和铁蛋白水平(MD = 260.03 ng/mL, 95% CI[119.65 ~ 400.42])。IVIS也导致较高的血红蛋白达成率(RR = 1.88, 95% CI[1.24 ~ 2.86])。输血率和输血量没有显著差异。IVIS与消化不良相关(RR = 0.10, 95% CI [0.05 ~ 0.22];I2 = 0%),但更多的疼痛相关不良事件(RR = 7.79, 95% CI [1.78 ~ 34.07];i2 = 0%)。两组患者的住院时间和死亡率相似。解释:与OIS相比,IVIS为择期手术患者提供了更好的血液学参数改善,但不能减少输血需求。虽然IVIS的消化不良事件较少,但它会增加与疼痛相关的并发症。这些发现强调了在选择补铁方法、仔细平衡时间、疗效和不良事件概况方面个性化方法的重要性。注册:PROSPERO CRD42023483284。
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引用次数: 0
Association of plasma aldosterone concentration with arterial stiffness progression in hypertensive patients: insights from a longitudinal analysis.
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

Purpose: 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.

Patients and methods: 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.

Results: 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).

Conclusion: 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.

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引用次数: 0
Prognostic value of liver fibrosis scores in ambulatory patients with heart failure.
Pub Date : 2025-02-21 DOI: 10.1080/00325481.2025.2468149
Ariana Varela-Cancelo, Eduardo Barge-Caballero, Gonzalo Barge-Caballero, David Couto-Mallón, M J Paniagua-Martín, Milena Antúnez-Ballesteros, Daniel Enríquez-Vázquez, Zulaika Grille-Cancela, Javier Muñiz, José M Vázquez-Rodríguez, María G Crespo-Leiro

Objectives: To investigate the association of four liver fibrosis scores - Fibrosis-4 (FIB-4), AST/ALT ratio, AST-to-platelet ratio index (APRI) and Gamma-glutamyl transferase-to-platelet ratio index (GPRI) - and clinical outcomes in ambulatory patients with heart failure (HF).

Methods: We conducted a retrospective study involving 2379 patients with HF referred to a specialized clinic from January 2010 to June 2022. We used multivariable Cox´s regression models to study the association between liver fibrosis scores and long-term clinical outcomes (all-cause death and the combined endpoints all-cause death or HF hospitalization and cardiovascular death or heart transplantation). Areas under receiver-operator curves were used to evaluate the discriminative capacity of each score for predicting 1-year clinical outcomes, as well as to analyze their incremental predictive value in addition to the broadly validated MAGGIC risk score.

Results: Median follow up was 1568 days. GPRI was identified as an independent predictor of all-cause death or HF hospitalization (HR 1.12, 95% CI 1.07-1.18), all-cause death (HR 1.14, 95% CI 1.08-1.20) and cardiovascular death or heart transplantation (HR 1.10, 95% CI 1.03-1.17). FIB-4 and AST/ALT ratios were also independently associated with all-cause mortality. According to receiver-operator curve analyses, GPRI showed the best discriminative capacity among the four liver fibrosis scores evaluated in the study to predict 1-year clinical outcomes. The predictive value of GPRI was incremental to the one of the MAGGIC risk score.

Conclusions: Liver fibrosis scores are associated with long-term clinical outcomes in ambulatory patients with HF. In our study, the predictive capacity of GPRI outperformed the one of FIB-4, APRI and AST/ALT and was incremental to the one of the MAGGIC risk score.

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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。
Pub Date : 2025-01-01 Epub Date: 2024-11-28 DOI: 10.1080/00325481.2024.2436247
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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。
Pub Date : 2024-12-24 DOI: 10.1080/00325481.2024.2441105
Veleska Wills, Francesco V Ferraro, Mark A Faghy

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 (n = 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.

以下系统综述旨在收集有关多发性硬化症(MS)患者呼吸肌训练(RMT)效果的信息。研究方法遵循 ENTREQ 和 PRISMA 协议。使用 MEDLINE、Cochrane 和 Science Direct 数据库查找相关文献。文章纳入了随机对照试验研究中被诊断为多发性硬化症的参与者,并对结果进行了客观测量,同时对 RMT 方法进行了标准化。结果显示,RMT(至少训练 8 周)能有效改善呼吸肌力量(9 项研究中的 7 项为 MIP,11 项研究中的 6 项为 MEP,7 项研究中的 6 项为 FVC)和健康相关结果,包括活动能力。虽然肌力增加了,但 FVC 的增加对功能能力和患者报告的疲劳影响不大,可以忽略不计。研究结果表明,肌肉力量的增强主要体现在吸气肌上,呼气肌的增强结果合并在一起。不过,综述显示,有关多发性硬化症患者使用 RMT 及其处方的研究还很缺乏。
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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。
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

Objective: 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.

Methods: 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.

Results: 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 (p = 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%).

Conclusions: 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.

研究目的本研究旨在翻译并验证台湾2型糖尿病(T2D)患者用药依从性量表(ChARMS-T)的繁体中文版,并调查台湾2型糖尿病(T2D)患者用药依从性的常见障碍:方法:ChARMS-T的开发分为翻译和应用两个阶段。在翻译阶段,量表经过了正译、反译和认知汇报。在应用阶段,从 2023 年 9 月开始,对台湾 5 家社区药房的 T2D 患者进行了为期 9 个月的 ChARMS-T 测试。通过标准效度评估心理测量特性,通过确认性因素分析评估建构效度,通过麦当劳欧米茄分析评估信度:共有 343 名参与者完成了调查。对 12 个项目的 ChARMS-T 进行因子分析后发现了两个维度:服药(8 个项目)和补药(4 个项目)。该工具的内部一致性尚可接受,服药量表的麦克唐纳Ω分值为 0.841,再服药量表的麦克唐纳Ω分值为 0.647。重新配药子量表与客观的重新配药测量--覆盖天数比例--显示出很强的一致性,系数为 0.84,表明这些测量评估的是相似的结构。ChARMS-T 评分与血糖控制之间的显著差异(p = 0.047)证明了已知组的有效性。与血糖控制不佳的患者相比,血糖控制良好的患者对补药和服药的依从性明显更高。最常报告的服药障碍是粗心大意(55.7%)、健忘(54.8%)和服药间隔频繁(43.1%)。在补药方面,9.6%的参与者认为,缺乏计划性是没有按时补药的主要原因,其次是健忘(7.6%):结论:ChARMS-T 能识别出更多不坚持服药的原因,并显示出良好的心理测量特性。结论:ChARMS-T 能识别出更多不坚持服药的原因,并显示出良好的心理测量特性,可将其纳入实践环境中进行筛查和随访,通过医护人员与患者之间的有效沟通来提高患者的服药依从性,最终改善患者的长期健康状况。
{"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。
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

Background: 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.

Methods: 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).

Results: Low BMD was detected in 20 patients (25%). The low BMD group had significantly more males (75% vs 40%, p < 0.01) and lower mean body mass index (BMI, 22.4 vs 24.5 kg/m2, p = 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, p < 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.

Discussion: 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.

背景:据报道,苯丙氨酸(Phe)限制饮食可能对经典苯丙酮尿症(cPKU)患者的骨骼健康产生负面影响。我们的目的是评估cPKU成人患者的骨密度(BMD),并确定与低骨密度相关的危险因素。方法:80例成年cPKU患者,其中女性41例,男性39例。年龄范围18.3 ~ 39.4岁(中位22.8岁)。采用双能x线骨密度仪测定股骨和腰椎骨密度。将患者分为低(Z-score≤-2)和正常(Z-score > -2)两组。结果:低BMD患者20例(25%)。低骨密度组有更多的男性(75% vs 40%, p 2, p = 0.02)。矛盾的是,低骨密度组的平均血钙和25-羟基维生素D水平更高,但仅略高(分别为10.0 vs 9.8 mg/dl和25.1 vs 21.0 μ g/L)。讨论:尽管在PKU中有骨质减少、骨质疏松和低骨密度的报道,但也存在相互矛盾的数据。我们对一个大型成年cPKU队列的研究有力地支持了先前发表的有限数据,即男性和低BMI会导致cPKU中低BMD的风险更高;年龄、Phe水平和饮食依从性则没有影响。在我们的研究中,虽然患者年轻,但骨密度低是很常见的(25%)。即使是患有cPKU的年轻成年人,尤其是男性和低BMI的人,也应该评估骨骼健康,无论治疗依从性和维生素矿物质状况如何。未来几年,报告临床结果(如骨痛或骨折)的前瞻性研究将很有价值。
{"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。
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

Objective: 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.

Methods: 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).

Results: 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 (p < 0.001). During the attack, fever was higher in Group 1, arthritis in Group 2, and chest pain in Group 3 (p < 0.001). The median ISSF score was similar in patients with uni- or biallelic mutations in Group 1 and 3 (p = 0.086, p = 0.35, respectively) but lower in heterozygous patients in Group 2 (p < 0.001). In Groups 1 and 2, mild disease severity was higher in heterozygotes, while moderate disease severity was higher in homozygotes (p = 0.034, p = 0.001, respectively).

Conclusion: 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.

目的比较家族性地中海热(FMF)患者发病年龄的人口统计学和临床特征,并评估MEFV基因致病或可能致病的第10外显子突变数量对疾病严重程度的剂量效应:这项病历回顾研究针对485例MEFV基因第10外显子单突变或双突变(M694V、M694I、M680I、V726A、R761H、T267I)的儿科FMF患者。患者按发病年龄分组(第1组:11岁)。疾病严重程度由 FMF 国际严重程度评分系统(ISSF)进行评估:结果:294 名患者(60.6%)被归为第 1 组,152 名(31.4%)被归为第 2 组,39 名(8%)被归为第 3 组。第 1 组患者的平均诊断时间为 26.7 ± 27.4 个月,高于其他组别(分别为 p p = 0.086 和 p = 0.35),但第 2 组杂合患者的诊断时间较短(分别为 p p = 0.034 和 p = 0.001):结论:与杂合子突变患者相比,MEFV基因第10外显子存在致病性或可能致病性的同源杂合子突变或复合杂合子突变的早发患者的病程更严重。突变数量对疾病严重程度的基因剂量效应在 6-11 岁的儿童中更为常见。
{"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
Plain language summary about the use and difficulties of medicines given as an injection in Hospital-at-Home. 简明扼要地说明在家医院注射药物的用法和困难。
Pub Date : 2024-12-19 DOI: 10.1080/00325481.2024.2436839
Margaret Peinovich, Jeremy R DeGrado, Michael C Cotugno, Raj Gokani, Elizabeth Wilks, Pradeep Shetty, Juliana Hey-Hadavi
{"title":"Plain language summary about the use and difficulties of medicines given as an injection in Hospital-at-Home.","authors":"Margaret Peinovich, Jeremy R DeGrado, Michael C Cotugno, Raj Gokani, Elizabeth Wilks, Pradeep Shetty, Juliana Hey-Hadavi","doi":"10.1080/00325481.2024.2436839","DOIUrl":"https://doi.org/10.1080/00325481.2024.2436839","url":null,"abstract":"","PeriodicalId":94176,"journal":{"name":"Postgraduate medicine","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866862","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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Postgraduate medicine
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