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Prognostic impact of cytogenetic alterations in newly diagnosed acute myeloid leukemia treated with risk-adapted protocols 采用风险适应方案治疗的新诊断急性髓性白血病患者细胞遗传学改变的预后影响
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107106
Neus Ruiz-Xivillé , Mireia Morgades , Laura Blanco , Dolors Costa , Blanca Espinet , Elisabet Talavera , Emma Triviño , Margarita Ortega , Eva Villamon , Lurdes Zamora , José Tomás Navarro , Montserrat Arnan , Susana Vives , Jordi Esteve , Jorge Sierra , Josep-Maria Ribera , Isabel Granada

Background and objective

In acute myeloid leukemia (AML), cytogenetic alterations have influence on treatment response and are essential for risk stratification, although some have uncertain prognostic relevance. In this study, the prognostic impact of cytogenetic alterations was analyzed in a series of newly diagnosed AML patients treated with risk-adapted protocols.

Patients and method

The cytogenetic profile of 1417 adult patients diagnosed with de novo AML (without t (15;17) or PML::RARA) enrolled in the CETLAM cooperative group protocols from 1994 to 2012 was studied, and its impact on survival was evaluated.

Results

Multivariable analysis showed that anomalies such as t (8;21) and inv(16)/t(16;16) predict a favorable prognosis, with no significant effect of additional anomalies on outcome. In contrast, abnormalities like monosomy of chromosome 7, structural alterations of chromosome 1, complex karyotype (5 or more abnormalities), and monosomal karyotype were associated with worse outcomes. Patients were classified into three prognostic groups based on their cytogenetic alterations, which demonstrated the effectiveness of the proposed system in predicting prognosis.

Conclusion

This study confirms the prognostic impact of cytogenetic alterations in AML and their usefulness in stratifying patients into risk groups.
背景和目的在急性髓性白血病(AML)中,细胞遗传学改变影响治疗反应,是危险分层的必要条件,尽管有些与预后的相关性不确定。在这项研究中,细胞遗传学改变对一系列新诊断的AML患者的预后影响进行了分析。研究了1994 - 2012年加入CETLAM合作组方案的1417例确诊为新生AML(无t(15;17)或PML::RARA)的成人患者的细胞遗传学特征,并评估其对生存的影响。结果多变量分析显示,t(8;21)和inv(16)/t(16;16)等异常预示预后良好,其他异常对预后无显著影响。相反,7号染色体单体、1号染色体结构改变、复杂核型(5个或更多异常)和单染色体核型等异常与较差的结果相关。根据患者的细胞遗传学改变将其分为三个预后组,这证明了所提出的系统在预测预后方面的有效性。结论:本研究证实了细胞遗传学改变对急性髓性白血病患者预后的影响及其在将患者划分为危险组方面的作用。
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引用次数: 0
Treatment of obesity with GLP-1 receptor agonist after bariatric surgery: Real-world evidence 减肥手术后GLP-1受体激动剂治疗肥胖:真实世界的证据
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107153
Camila Milad , Sergio Logwin , Nerea Antón , Amanda Jiménez , Lilliam Flores , Ainitze Ibarzábal , Violeta Moizé , Adriana Pané , Josep Vidal , Ana de Hollanda

Introduction

Approximately 25– of patients undergoing bariatric surgery (BS) experience weight regain or suboptimal weight loss. Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have emerged as a therapeutic option in these cases.

Aim

To evaluate the effectiveness of GLP-1 RAs in managing weight regain and suboptimal weight response after BS in a real-world setting.

Materials and methods

Retrospective study of BS patients treated with GLP-1 RAs due to weight regain or suboptimal weight response.

Results

A total of 953 patients underwent BS between 2015 and 2020; 122 initiated treatment with GLP-1 RAs. The cohort was composed 78% women, with a mean age of 50.4 ± 10.6 years and a baseline BMI of 44.7 ± 6.3 kg/m2. At the start of treatment, 41.9 ± 20.5 months post-BS, the mean weight loss was 18.6 ± 10%; 52% had lost <20% of their initial weight and 82% had regained >20% of the weight lost. 35% received liraglutide (LIRA) (1.8 ± 0.5 mg/day) and 65% semaglutide (SEMA) (1.0 ± 0.8 mg/week), with a mean treatment duration of 19.3 ± 17.3 months. Maximum weight loss was 4.7 ± 4.8% with LIRA vs. 8.3 ± 5.9% with SEMA (p = 0.01). Total weight loss (BS + GLP-1 RA) was 21.6 ± 9.2% with LIRA vs. 25.6 ± 10.5% with SEMA. The proportion of patients with a suboptimal weight response after BS + pharmacotherapy (<20%) significantly decreased (from 52% to 31%).

Conclusions

SEMA led to greater weight reduction than LIRA, positioning it as a more effective option for managing post-BS weight regain.
大约25%的接受减肥手术(BS)的患者体重恢复或体重下降不理想。胰高血糖素样肽-1受体激动剂(GLP-1 RAs)已成为这些病例的治疗选择。目的评估GLP-1 RAs在控制BS后体重恢复和次优体重反应中的有效性。材料和方法回顾性研究因体重恢复或体重反应不佳而接受GLP-1 RAs治疗的BS患者。结果2015 - 2020年共953例BS患者;122人开始用GLP-1 RAs治疗。该队列由78%的女性组成,平均年龄为50.4 ± 10.6岁,基线BMI为44.7 ± 6.3 kg/m2。治疗开始时,bs后41.9 ± 20.5个月,平均体重减轻18.6 ± 10%;52%的人减掉了原来体重的20%,82%的人恢复了原来体重的20%。35%的患者接受利拉鲁肽(liraglutide, LIRA)(1.8 ± 0.5 mg/天)和65%的患者接受SEMA (SEMA, 1.0 ± 0.8 mg/周)治疗,平均治疗时间为19.3 ± 17.3个月。LIRA组的最大减重为4.7 ± 4.8%,SEMA组为8.3 ± 5.9% (p = 0.01)。总体重减轻(BS + GLP-1 RA)为21.6 ± 9.2%,而SEMA为25.6 ± 10.5%。BS + 药物治疗后体重反应不佳的患者比例(<20%)显著下降(从52%降至31%)。结论:sema比LIRA更能减轻体重,使其成为治疗bs后体重反弹的更有效选择。
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引用次数: 0
GLP-1 receptor agonists and GIP/GLP-1 co-agonists in the treatment of obesity in adolescents and the elderly GLP-1受体激动剂和GIP/GLP-1协同激动剂治疗青少年和老年人肥胖
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107122
Gilberto Pérez López
Obesity represents a global public health challenge, with specific characteristics and needs in adolescent and elderly populations. GLP-1 (glucagon-like peptide-1) receptor agonists such as liraglutide and semaglutide, as well as the GIP (glucose-dependent insulinotropic polypeptide) and GLP-1 receptor co-agonist tirzepatide, have emerged as promising therapeutic options for obesity management. This review analyzes the clinical development, efficacy, safety, and tolerability of these drugs specifically in adolescents and the elderly, populations typically underrepresented in initial clinical trials. Findings from pivotal clinical studies and real-world data are detailed, showing that these medications offer significant benefits in weight reduction, albeit with particular safety considerations for each age group. Additionally, emerging GLP-1 molecules in clinical development with potential application in these special populations are explored. The conclusions emphasize the need for a personalized approach considering the specific pathophysiological, pharmacokinetic, and pharmacodynamic differences of each population group.
肥胖是一项全球性的公共卫生挑战,在青少年和老年人群体中具有特定的特点和需求。GLP-1(胰高血糖素样肽-1)受体激动剂,如利拉鲁肽和半马鲁肽,以及GIP(葡萄糖依赖性胰岛素多肽)和GLP-1受体协同激动剂替西帕肽,已成为肥胖管理的有希望的治疗选择。这篇综述分析了这些药物的临床发展、疗效、安全性和耐受性,特别是在青少年和老年人中,这些人群在最初的临床试验中通常代表性不足。关键临床研究和实际数据的详细结果表明,这些药物在减肥方面有显著的益处,尽管对每个年龄组都有特殊的安全性考虑。此外,新出现的GLP-1分子在临床开发中具有潜在的应用在这些特殊人群进行了探索。结论强调需要考虑到每个人群群体的具体病理生理、药代动力学和药效学差异的个性化方法。
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引用次数: 0
Diverticular perforation due to foreign body 异物引起的憩室穿孔
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107017
Lucía Isabel Martínez Minuesa, Sagrario Fuerte Ruiz, Teresa Carrascosa Mirón
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引用次数: 0
PTH/PTHrP analogues as osteoanabolic treatment in patients with osteoporosis PTH/PTHrP类似物作为骨质疏松症患者骨合成代谢治疗
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107076
Enrique Casado , Guillermo Martínez-Díaz-Guerra , José Ramon Caeiro
Teriparatide (TPTD) and abaloparatide (ABL) are osteoanabolic drugs belonging to the group of parathyroid hormone analogues and parathyroid hormone-related protein analogues, respectively. Both drugs have been shown to be effective and safe in the treatment of postmenopausal osteoporosis (PMO), reducing the risk of vertebral and nonvertebral fractures and improving bone microarchitecture, especially in patients with severe osteoporosis. For this reason, guidelines recommend their use as first-line treatment for patients at very high risk of fracture. Although TPTD and ABL act on the same receptor, PTHR1, they trigger a different signalling response, which explains why their effects on bone remodelling are also different, with similar osteoanabolic action, but with less stimulation of resorption by ABL, which confers a greater benefit on cortical bone.
Teriparatide (TPTD)和abaloparatide (ABL)是骨合成代谢药物,分别属于甲状旁腺激素类似物和甲状旁腺激素相关蛋白类似物。这两种药物已被证明在治疗绝经后骨质疏松症(PMO)方面是有效和安全的,降低椎体和非椎体骨折的风险,改善骨微结构,特别是在严重骨质疏松症患者中。因此,指南建议将其作为骨折高危患者的一线治疗。虽然TPTD和ABL作用于相同的受体PTHR1,但它们触发不同的信号反应,这就解释了为什么它们对骨重塑的影响也不同,具有相似的骨合成代谢作用,但ABL对骨吸收的刺激较少,这对皮质骨有更大的好处。
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引用次数: 0
Everolimus-induced interstitial lung disease in a transplant recipient 依维莫司致移植受者间质性肺病
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107155
Füsun Fakılı
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引用次数: 0
Contrast-induced acute sialadenitis 造影剂诱导的急性涎腺炎
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107020
Anna Moreno Cosialls , Maria Huguet Mas
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引用次数: 0
Clinical spectrum and therapeutic strategies of fibromuscular dysplasia and segmental arterial mediolysis: A cohort study 纤维肌肉发育不良和节段性动脉介质溶解的临床谱和治疗策略:一项队列研究
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107119
Víctor Manuel Martínez-Castilla , Marina Valenzuela-Espejo , Yaiza Díaz-Castillo , Marta Bacete-Cebrián , Rubén Alonso-Beato , Arturo Álvarez-Luque , Luís Antonio Álvarez-Sala Walther , Francisco Galeano-Valle

Introduction

Segmental arterial mediolysis (SAM) and fibromuscular dysplasia (FMD) are rare vasculopathies. Differentiating between them is difficult due to its similarities. The aim is to describe and compare the clinical characteristics, presenting symptoms, diagnostic tests, treatment, and outcomes.

Patients and methods

Single center retrospective review of patients diagnosed with FMD or SAM between 2016 and 2023.

Results

Four patients with SAM and 18 with FMD were included. SAM predominated in males with abdominal pain (75%), while FMD in young women (61.1%) with neurological manifestations (66.6%). Anticoagulation was the main treatment for SAM, and antiplatelet therapy for FMD. Surgical treatment was performed in 25% and 22.2%, while percutaneous intervention was performed in none and 27.7% of patient, respectively. During follow-up (median 3.4 years), mortality was similar in both groups (10%).

Conclusion

There are key differences in clinical presentation, management, and outcomes that may help guide the treatment of both conditions.
节段性动脉介质溶解(SAM)和纤维肌肉发育不良(FMD)是罕见的血管病变。由于它们的相似性,区分它们是困难的。目的是描述和比较临床特征、表现症状、诊断测试、治疗和结果。患者和方法2016年至2023年间诊断为口蹄疫或SAM的患者的单中心回顾性分析。结果共纳入4例SAM患者和18例FMD患者。男性以腹痛为主(75%),年轻女性以FMD为主(61.1%),伴有神经系统症状(66.6%)。抗凝治疗是SAM的主要治疗方法,抗血小板治疗是FMD的主要治疗方法。手术治疗分别占25%和22.2%,经皮介入治疗分别占27.7%和无一例。在随访期间(中位3.4年),两组的死亡率相似(10%)。结论两种疾病的临床表现、治疗和结局存在关键差异,可能有助于指导两种疾病的治疗。
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引用次数: 0
Health-related quality of life in patients with Camurati–Engelmann disease: A case series study Camurati-Engelmann病患者的健康相关生活质量:一项病例系列研究
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107043
Pablo Peláez , Pilar Peris , Núria Guañabens

Background

Camurati–Engelmann disease (CED) is an extremely rare autosomal dominant bone dysplasia characterized by hyperostosis of the long bones and, in severe cases, of the skull and axial skeleton. This study aims to analyze the impact on quality of life in a non-selected group of CED patients.

Methods

This monocentric case series study included 15 patients who completed a survey that collected demographic characteristics, disease-related information and a validated SF-12 questionnaire to assess quality of life. Physical (PCS-12) and Mental (MCS-12) Component Summary scores were compared with the mean SF-12 scores of the U.S. reference population.

Results

Patients had significantly lower PCS-12 score [29.8 (7.5)] compared to the reference population [50.0 (10.0)] (p < 0.0001). However, there were no differences in the MCS-12 score [48.8 (11.23) vs 50.0 (10.0)]. The most reported symptoms were fatigue (100%), pain in the limbs (93.3%) and muscle pain (86.7%).

Conclusions

CED patients have significantly lower physical quality of life than the general population, due to the high prevalence of physically limiting problems. However, mental health appears unaffected.
camurati - engelmann病(CED)是一种极其罕见的常染色体显性骨发育不良,其特征为长骨肥大,严重者可累及颅骨和中轴骨。本研究旨在分析非选择组CED患者生活质量的影响。方法本单中心病例系列研究包括15例患者,他们完成了一项调查,收集了人口统计学特征、疾病相关信息和有效的SF-12问卷,以评估生活质量。身体(PCS-12)和心理(MCS-12)成分总结得分与美国参考人群的SF-12平均得分进行比较。结果患者的PCS-12评分[29.8(7.5)分]明显低于对照人群[50.0(10.0)分](p < 0.0001)。然而,MCS-12评分没有差异[48.8 (11.23)vs 50.0(10.0)]。报告最多的症状是疲劳(100%)、四肢疼痛(93.3%)和肌肉疼痛(86.7%)。结论sced患者躯体生活质量明显低于普通人群,主要是由于躯体限制问题的高发。然而,心理健康似乎没有受到影响。
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引用次数: 0
Scalloped pupil in a patient with hereditary amyloidosis transthyretin 遗传性淀粉样变性患者的扇形瞳孔
Pub Date : 2025-10-01 DOI: 10.1016/j.medcle.2025.107069
Alex de Novais Batista, João Eudes Magalhães
{"title":"Scalloped pupil in a patient with hereditary amyloidosis transthyretin","authors":"Alex de Novais Batista,&nbsp;João Eudes Magalhães","doi":"10.1016/j.medcle.2025.107069","DOIUrl":"10.1016/j.medcle.2025.107069","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"165 4","pages":"Article 107069"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145290017","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
期刊
Medicina clinica (English ed.)
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