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Assessing health-related quality of life in patients with keratinocyte carcinoma: insights from a multicenter cross-sectional study. 评估角化细胞癌患者的健康相关生活质量:来自多中心横断面研究的见解
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2025-06-01 Epub Date: 2025-06-19 DOI: 10.1080/17843286.2025.2519728
Annick Meertens, Laura Van Coile, Amber Shen, Katrien Vossaert, Rick Waalboer-Spuij, Lisa Van Wilder, Louisa Collins, Lieve Brochez, Nick Verhaeghe, Isabelle Hoorens

Objectives: Keratinocyte carcinoma (KC) represents 90% of all skin cancers and despite its relatively low mortality, may affect patients' health-related quality of life (HRQoL). This Belgian/Dutch cross-sectional study measured the impact of KC on HRQoL using generic instruments and a disease-specific questionnaire.

Methods: HRQoL was measured using the disease-specific Basal and Squamous Cell Carcinoma Quality of Life (BaSQoL) questionnaire, consisting of five domains. Sub-scores range from 0 to 3, with a higher score meaning higher impact on HRQoL. Additionally, the generic instruments EuroQol 5-Dimension 5-level (EQ-5D-5 L), visual analog scale (VAS), 15-dimensions (15D) and the time trade-off (TTO) technique were employed. Scores range from 0 to 1, with 0 meaning death and 1 meaning perfect health. HRQoL scores were stratified by patients with single and multiple KC. Generalized linear models assessed differences in mean HRQoL scores across KC groups, adjusting for relevant covariates.

Results: The study included 715 patients; 332 with single KC and 383 with multiple KC. The BaSQoL subscores for single and multiple KC patients ranged from 0.44 to 0.52 for the 'appearance' subdomain to 1.16 and 1.27 for the 'other people' subdomain, indicating a low-to-moderate impact on HRQoL. Patients with multiple KC showed significantly higher impact on BaSQoL 'worries' subdomain (p = 0.002) and worse perceived health on the EQ-5D-5 L (p = 0.004) compared to patients with single KC. No significant differences were observed in VAS, 15D or TTO between single and multiple KC.

Conclusion: Findings suggest, both with disease-specific and generic instruments, a moderate to low impact of KC on HRQoL.

目的:角化细胞癌(KC)占所有皮肤癌的90%,尽管其死亡率相对较低,但可能影响患者的健康相关生活质量(HRQoL)。这项比利时/荷兰横断面研究使用通用仪器和疾病特异性问卷测量KC对HRQoL的影响。方法:采用疾病特异性基底细胞癌和鳞状细胞癌生活质量问卷(BaSQoL)测量HRQoL,包括5个域。分值范围从0到3,分值越高对HRQoL的影响越大。采用通用仪器EuroQol 5维5级量表(eq - 5d - 5l)、视觉模拟量表(VAS)、15维量表(15D)和时间权衡(TTO)技术。得分范围从0到1,0表示死亡,1表示完全健康。HRQoL评分按单个和多个KC患者分层,广义线性模型评估各组间HRQoL平均评分的差异,并调整相关协变量。结果:纳入715例患者;单个和多个KC患者的BaSQoL亚评分范围为“外表”子域的0.44 - 0.52,“其他人”子域的1.16 - 1.27,表明对HRQoL的影响为低至中度。与单一KC患者相比,多重KC患者对BaSQoL“忧虑”子域的影响显著高于单一KC患者(p = 0.002),对eq - 5d - 5l的健康感知较差(p = 0.004), VAS、15D或TTO在单一和多重KC患者之间无显著差异。结论:研究结果表明,无论是疾病特异性仪器还是通用仪器,KC对HRQoL的影响均为中至低。
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引用次数: 0
Barriers to guideline implementation in intermediate- and high-risk Pulmonary Embolism: insights from a real-world cohort study. 中高风险肺栓塞指南实施的障碍:来自真实世界队列研究的见解。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2025-06-01 Epub Date: 2025-06-16 DOI: 10.1080/17843286.2025.2519723
Michiel Meylaers, Monika Beles, Christophe Vandenbriele, Marc Vanderheyden, Dan Schelfaut, Eric Wyffels

Background: Pulmonary embolism (PE) presents significant challenges due to its wide clinical spectrum, associated right ventricular failure, and high mortality rates. Despite guideline recommendations for systemic thrombolysis in high-risk PE, its implementation remains suboptimal due to safety concerns. This study investigates barriers to guideline implementation in treating intermediate- and high-risk PE and assesses catheter-based thrombectomy (CBT) as an alternative treatment.

Methods: A single centre retrospective cohort study analyzed medical records of all PE-diagnoses between January 2022 and June 2023 . Patients with central, lobar, or segmental PE and Pulmonary Embolism Severity Index scores of III - V were included. A subgroup of patients received CBT. Data on patient characteristics, treatment, outcomes, and eligibility for CBT were collected.

Results: Of the 124 intermediate- and high-risk patients, thrombolysis was administered to only 17% of high-risk patients. Within the conventional treatment group, barriers to thrombolysis included contra-indications in 72% of intermediate-risk and 80% of high-risk patients, leaving a significant number eligible for CBT. Additionally, 20% of high-risk PE patients who did not received thrombolysis had no contra-indications and should have been treated with thrombolysis. In-hospital mortality was 50% among high-risk patients. Eleven patients received CBT, with no mortality at 30 days.

Conclusions: Guideline-recommended thrombolysis is underutilized in high-risk PE, due to safety concerns and contra-indications. CBT demonstrates a promising alternative with a favourable safety profile and low mortality rates, highlighting the need for prospective studies. Multidisciplinary approaches, such as Pulmonary Embolism Response Teams, may help to standardize care and to improve outcomes.

背景:肺栓塞(PE)因其广泛的临床频谱、相关的右心室衰竭和高死亡率而面临重大挑战。尽管指南建议对高危PE进行全身溶栓治疗,但由于安全性问题,其实施仍不理想。本研究调查了指南在治疗中高风险PE时实施的障碍,并评估了导管血栓切除术(CBT)作为一种替代治疗方法。方法:单中心回顾性队列研究分析了2022年1月至2023年6月期间所有pe诊断的医疗记录。包括中枢性、大叶性或节段性PE和肺栓塞严重程度指数评分为III - V的患者。一组患者接受CBT治疗。收集了患者特征、治疗、结果和CBT适格性的数据。结果:124例中高危患者中,只有17%的高危患者接受了溶栓治疗。在常规治疗组中,溶栓障碍包括72%的中危患者和80%的高危患者的禁忌症,这使得相当多的患者适合CBT治疗。此外,20%未接受溶栓治疗的高危PE患者无禁忌症,本应接受溶栓治疗。高危患者的住院死亡率为50%。11例患者接受CBT治疗,30天无死亡。结论:由于安全性和禁忌症的考虑,指南推荐的溶栓治疗在高危PE中应用不足。CBT具有良好的安全性和低死亡率,是一种有希望的替代方案,强调了前瞻性研究的必要性。多学科方法,如肺栓塞反应小组,可能有助于标准化护理和改善结果。
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引用次数: 0
Procalcitonin levels at hospital admission are increased in cyst infection in patients with autosomal dominant polycystic kidney disease. 常染色体显性多囊肾病的囊肿感染患者入院时降钙素原水平升高。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2025-02-01 Epub Date: 2025-06-12 DOI: 10.1080/17843286.2025.2518059
Jihad Abdelmalki, Laurence Seidel, Frédéric Frippiat, Pierre Lovinfosse, François Jouret

Introduction: The diagnosis of cyst infection in autosomal dominant polycystic kidney disease (ADPKD) is difficult. [18F]FDG PET/CT imaging is helpful, but early diagnosis remains challenging. Procalcitonin (PCT), a serum biomarker for bacterial infections, has not been evaluated in ADPKD-related cyst infections.

Methods: A retrospective review (between 2009 and 2023) identified all ADPKD patients who were (i) hospitalized (ii) with serum PCT measurements. Cyst infection was conventionally defined. Univariate and multivariate logistic regressions assessed the association between PCT and cyst infection risk.

Results: The cohort included 104 patients (mean age of 65.5 ± 14.9 years; 49% post-kidney transplantation; 16.3% on chronic dialysis). Cyst infections occurred in 24 cases. [18F]FDG PET/CT was performed in 47 patients, detecting cyst infection in 17 cases and non-cystic inflammation in 11. In the whole cohort, CRP levels at admission reached 97.3 [42.8; 164] mg/L. Serum PCT level was measured within 72-h post admission in 83/104 (79%) cases, and the median value reached 0.47 [0.18-2.04] µg/L. A significant correlation was observed between serums levels of PCT and creatinine at admission (r = 0.37, p < 0.05). PCT > 0.59 µg/L significantly predicted cyst infection (OR = 6.30, p = 0.0047). Antibiotics were administered ≥48 h before PCT measurement in 9/24 cases of cyst infection. PCT levels did not significantly differ between patients exposed to antibiotics (0.98 [0.43-2.19] µg/L) or not (1.42 [0.94-3.81] µg/L; p = 0.39). Higher PCT was associated with cyst [18F]FDG uptake above the pathological threshold (OR = 2.01, p = 0.0028).

Conclusion: PCT >0.59 µg/L within 72-h post admission is a significant biomarker for cyst infection in ADPKD patients.

常染色体显性多囊肾病(ADPKD)囊肿感染的诊断是困难的。[18F]FDG PET/CT成像是有帮助的,但早期诊断仍然具有挑战性。降钙素原(PCT)是细菌感染的血清生物标志物,尚未在adpkd相关的囊肿感染中进行评估。方法:回顾性研究(2009年至2023年)确定了所有(i)住院(ii)血清PCT测量的ADPKD患者。囊肿感染是传统的定义。单因素和多因素logistic回归评估PCT与囊肿感染风险之间的关系。结果:纳入104例患者(平均年龄65.5±14.9岁;肾移植后49%;慢性透析患者占16.3%)。24例发生囊肿感染。[18F] 47例患者行FDG PET/CT检查,发现囊肿感染17例,非囊性炎症11例。在整个队列中,入院时CRP水平为97.3 [42.8;164 mg / L。83/104例(79%)患者入院后72 h内检测血清PCT水平,中位数为0.47[0.18-2.04]µg/L。入院时血清PCT和肌酐水平有显著相关性(r = 0.37, p 0.59µg/L),可显著预测囊肿感染(OR = 6.30, p = 0.0047)。9/24例囊肿感染患者在PCT检测前≥48 h给予抗生素治疗。抗生素暴露患者的PCT水平(0.98 [0.43-2.19]μ g/L)与未暴露患者的PCT水平(1.42 [0.94-3.81]μ g/L)无显著差异;p = 0.39)。高PCT与囊肿[18F]FDG摄取高于病理阈值相关(OR = 2.01, p = 0.0028)。结论:入院后72h内PCT >0.59µg/L是判断ADPKD患者囊肿感染的重要生物标志物。
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引用次数: 0
Performing intravascular procedures in highly inflammatory patients: think twice. 对高度炎症患者进行血管内手术:三思而行。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2025-02-01 Epub Date: 2025-05-23 DOI: 10.1080/17843286.2025.2498901
Michiel Meylaers, Dorine Van Linthout, Christophe Vandenbriele, Thomas Castelein

Background: Intra-aortic thrombi with systemic embolization are rare but potentially life-threatening conditions. Known risk factors include hypercoagulability (e.g. due to inflammation) and atherosclerosis.

Case summary: We present a 46-year-old female patient presenting with highly elevated inflammatory parameters due to an atypical community-acquired pneumonia. Stabbing chest pain at admission, negative anterolateral and inferior T-waves on the electrocardiogram and a rise in high-sensitivity troponin T level indicated a diagnostic coronarography which showed no significant coronary stenosis, prompting the diagnosis of an infectious perimyocarditis. Four days after the angiography, the patient experienced multiple systemic thromboembolic events within a timeframe of 24 hours due to a large intra-aortic thrombus.

Discussion: The co-occurrence of aortic thrombi following a coronary angiography in a highly inflammatory patient raises the suspicion of inflammation-induced arterial thrombosis subsequent to endothelial cell injury. An overwhelming inflammatory response will increase the levels of coagulation factor VIII - produced by the endothelium and acting as an acute phase protein - and thus the tendency to form blood clots, especially after local damage to the endothelial cells by guidewire or catheter manipulation. Within this case report, we underscore the importance of adopting a cautious strategy when contemplating invasive arterial procedures, or even postpone when not urgently needed, in patients with strongly elevated levels of inflammation. Here, factor VIII levels can act as a guidance even before C-reactive protein levels rise. These interventions carry the risk of causing endothelial cell injury, consequently amplifying the probability of arterial thrombus formation, with a challenging management and treatment.

背景:主动脉内血栓合并全身栓塞是一种罕见但可能危及生命的疾病。已知的危险因素包括高凝(如炎症)和动脉粥样硬化。病例总结:我们报告了一位46岁的女性患者,由于非典型社区获得性肺炎而出现高度升高的炎症参数。入院时胸痛刺痛,心电图前外侧及下侧T波阴性,高敏感肌钙蛋白T水平升高,提示诊断性冠状动脉造影未见明显冠状动脉狭窄,提示感染性心包炎诊断。血管造影后4天,患者在24小时内由于主动脉内大血栓发生了多次系统性血栓栓塞事件。讨论:高度炎症患者在冠状动脉造影后并发主动脉血栓,提示内皮细胞损伤后炎症诱导的动脉血栓形成。压倒性的炎症反应会增加凝血因子VIII(由内皮细胞产生,作为急性期蛋白)的水平,从而增加形成血凝块的倾向,特别是在通过导丝或导管操作局部损伤内皮细胞后。在本病例报告中,我们强调在考虑侵入性动脉手术时采取谨慎策略的重要性,甚至在非迫切需要时推迟炎症水平强烈升高的患者。在这里,因子VIII水平甚至可以在c反应蛋白水平上升之前起到指导作用。这些干预措施有引起内皮细胞损伤的风险,因此增加了动脉血栓形成的可能性,具有挑战性的管理和治疗。
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引用次数: 0
Suspect the unexpected: proliferative glomerulonephritis with monoclonal immunoglobulin deposits and a negative hematological work-up. A case of monoclonal gammopathy of renal significance. 怀疑意外:增生性肾小球肾炎伴单克隆免疫球蛋白沉积,血液学检查阴性。肾脏单克隆γ病1例。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-02-09 DOI: 10.1080/17843286.2025.2463354
Benoît Delforge, Elien Mahieu, Amélie Dendooven, Michel Delforge, Alexander Salembier, Laurens Claeys, Celine Vanfraechem

Objectives: Proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID) is a subtype of monoclonal gammopathy of renal significance (MGRS). PGNMID can present with insidious, slowly progressing kidney damage to overt nephrotic syndrome or rapidly progressive glomerulonephritis. It is a renal-limited disease that often lacks a detectable plasma or B-cell clone and requires kidney biopsy for diagnosis.

Methods: We present the case of a 77-year-old woman who developed nephrotic range proteinuria and progressive chronic kidney disease, despite a normal hematological work-up that showed no evidence of monoclonality.

Results: This case highlights the potential risk for severe renal damage caused by monoclonal proteins, even in the absence of a detectable pathological hematologic clone.

Conclusion: PGNMID requires further research to gain knowledge regarding pathophysiology and potential serum biomarkers for diagnosis as well as therapy response.

目的:增殖性肾小球肾炎伴单克隆免疫球蛋白沉积(PGNMID)是单克隆肾性γ病(MGRS)的一种亚型。PGNMID可表现为隐匿的、缓慢进展的肾损害,到显性肾病综合征或迅速进展的肾小球肾炎。它是一种肾脏局限性疾病,通常缺乏可检测的血浆或b细胞克隆,需要肾活检进行诊断。方法:我们提出的情况下,77岁的妇女谁发展肾病范围蛋白尿和进行性慢性肾脏疾病,尽管正常的血液学检查显示没有单克隆的证据。结果:该病例强调了单克隆蛋白引起严重肾损害的潜在风险,即使在没有可检测的病理血液学克隆的情况下。结论:PGNMID需要进一步研究以获得病理生理学和潜在的血清生物标志物诊断和治疗反应。
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引用次数: 0
The importance of the cumulation of risk factors for antepartum depression. 产前抑郁危险因素累积的重要性。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-03-19 DOI: 10.1080/17843286.2025.2477472
Rita Van Damme, Mathilde Descheemaeker, Bea Van den Bergh, Marie-Anne Vanderhasselt, Kristien Roelens, Gilbert Lemmens

Objectives: Pregnancy is a period of heightened vulnerability to mental health problems. This pilot study aims to investigate the association between psychosocial and obstetric risk factors and the onset of depressive and anxious symptoms during pregnancy, with a focus on cumulative risks.

Method: Conducted at Ghent University Hospital in Belgium, this prospective observational study involved 378 pregnant women. Participants received a semi-standardized psychosocial assessment at 16 weeks to evaluate potential risk factors, followed by stepped screening protocol for depressive and anxious symptoms at 20 weeks. Due to significant overlap, the analysis focused solely on depressive symptoms.

Results: Depressive symptoms were identified in 5.5% of participants with a score ≥ 13 on the Edinburgh Depression Scale. Key psychosocial risk factors that increase the risk of antepartum depression include a history of mental health issues, especially depression (Fisher's exact test (FET), p = .018), experiences of physical (FET, p = .007) or emotional (FET, p = .008) violence, lack of social support (FET, p = .014), and unplanned pregnancy (FET, p = .008). No significant association was found between obstetric factors and depressive symptoms. The study highlights that the accumulation of psychosocial risk factors significantly elevates the risk of depression (Kendall's τ = 0.22, p < .001).

Conclusion: These findings underscore the necessity of comprehensive psychosocial assessments in pregnant women, offering deeper insights than mere screenings for depression and anxiety. Recognizing and quantifying these risk factors facilitates targeted interventions. Employing a cumulative risk index effectively identifies women at heightened risk of mental health problems.

目的:怀孕是一个易受心理健康问题影响的时期。这项试点研究的目的是调查社会心理和产科风险因素与怀孕期间抑郁和焦虑症状发作之间的关系,重点是累积风险。方法:在比利时根特大学医院进行的这项前瞻性观察研究涉及378名孕妇。参与者在16周时接受了半标准化的心理社会评估,以评估潜在的风险因素,随后在20周时接受了抑郁和焦虑症状的阶梯式筛查方案。由于有明显的重叠,分析只关注抑郁症状。结果:爱丁堡抑郁量表得分≥13分的参与者中有5.5%存在抑郁症状。增加产前抑郁风险的关键社会心理风险因素包括精神健康问题史,特别是抑郁症(Fisher精确检验(FET), p = 0.018),身体(FET, p = 0.007)或情感(FET, p = 0.008)暴力经历,缺乏社会支持(FET, p = 0.014)和意外怀孕(FET, p = 0.008)。产科因素与抑郁症状之间未发现显著关联。结论:这些发现强调了对孕妇进行全面的心理社会评估的必要性,比单纯的抑郁和焦虑筛查提供了更深入的见解。认识和量化这些风险因素有助于有针对性的干预措施。采用累积风险指数有效地识别出心理健康问题风险较高的妇女。
{"title":"The importance of the cumulation of risk factors for antepartum depression.","authors":"Rita Van Damme, Mathilde Descheemaeker, Bea Van den Bergh, Marie-Anne Vanderhasselt, Kristien Roelens, Gilbert Lemmens","doi":"10.1080/17843286.2025.2477472","DOIUrl":"10.1080/17843286.2025.2477472","url":null,"abstract":"<p><strong>Objectives: </strong>Pregnancy is a period of heightened vulnerability to mental health problems. This pilot study aims to investigate the association between psychosocial and obstetric risk factors and the onset of depressive and anxious symptoms during pregnancy, with a focus on cumulative risks.</p><p><strong>Method: </strong>Conducted at Ghent University Hospital in Belgium, this prospective observational study involved 378 pregnant women. Participants received a semi-standardized psychosocial assessment at 16 weeks to evaluate potential risk factors, followed by stepped screening protocol for depressive and anxious symptoms at 20 weeks. Due to significant overlap, the analysis focused solely on depressive symptoms.</p><p><strong>Results: </strong>Depressive symptoms were identified in 5.5% of participants with a score ≥ 13 on the Edinburgh Depression Scale. Key psychosocial risk factors that increase the risk of antepartum depression include a history of mental health issues, especially depression (Fisher's exact test (FET), <i>p</i> = .018), experiences of physical (FET, <i>p</i> = .007) or emotional (FET, <i>p</i> = .008) violence, lack of social support (FET, <i>p</i> = .014), and unplanned pregnancy (FET, <i>p</i> = .008). No significant association was found between obstetric factors and depressive symptoms. The study highlights that the accumulation of psychosocial risk factors significantly elevates the risk of depression (Kendall's τ = 0.22, <i>p</i> < .001).</p><p><strong>Conclusion: </strong>These findings underscore the necessity of comprehensive psychosocial assessments in pregnant women, offering deeper insights than mere screenings for depression and anxiety. Recognizing and quantifying these risk factors facilitates targeted interventions. Employing a cumulative risk index effectively identifies women at heightened risk of mental health problems.</p>","PeriodicalId":7086,"journal":{"name":"Acta Clinica Belgica","volume":" ","pages":"413-422"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143655860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Bempedoic acid after statin-induced rhabdomyolysis. 他汀类药物诱导横纹肌溶解后的苯甲多酸。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-03-18 DOI: 10.1080/17843286.2025.2480697
Vandermeersch Irene, Heyse Alex
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引用次数: 0
MASH to cirrhosis: bridging the gaps in MASLD management. MASH到肝硬化:弥合MASLD管理的差距。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-02-24 DOI: 10.1080/17843286.2025.2466011
Zouhir Gadi, Wilhelmus J Kwanten, Luisa Vonghia, Sven M Francque

Metabolic dysfunction-associated steatohepatitis (MASH) represents a critical stage in the progression of metabolic dysfunction-associated steatotic liver disease (MASLD), significantly increasing the risk of cirrhosis, hepatocellular carcinoma (HCC), and liver-related mortality. Despite the rising global prevalence of MASLD, gaps in understanding the pathophysiological mechanisms driving MASH to cirrhosis persist, leading to challenges in early diagnosis, prevention, and treatment. This review explores the current knowledge on MASH, focusing on its pathophysiology, clinical management, and treatment strategies in the advanced stages. The role of metabolic dysfunction, portal hypertension, decompensation, and HCC occurrence is highlighted, alongside an evaluation of therapeutic options including lifestyle intervention, bariatric surgery, pharmacological therapies and liver transplantation. Furthermore, we emphasize the need for a multidisciplinary care approach to improve patient outcomes and address the complex metabolic and hepatic interplay in MASLD. Bridging these gaps will require an integrated effort combining advanced diagnostic tools, novel treatments, and comprehensive care strategies.

代谢功能障碍相关脂肪性肝炎(MASH)是代谢功能障碍相关脂肪性肝病(MASLD)进展的关键阶段,显著增加肝硬化、肝细胞癌(HCC)和肝脏相关死亡率的风险。尽管MASLD的全球患病率不断上升,但在了解MASH导致肝硬化的病理生理机制方面仍然存在差距,这导致了早期诊断、预防和治疗方面的挑战。本文综述了目前关于MASH的知识,重点介绍了其病理生理、临床管理和晚期治疗策略。代谢功能障碍,门脉高压,失代偿和HCC发生的作用被强调,以及治疗选择的评估,包括生活方式干预,减肥手术,药物治疗和肝移植。此外,我们强调需要多学科的护理方法来改善患者的预后,并解决MASLD中复杂的代谢和肝脏相互作用。弥合这些差距需要综合努力,将先进的诊断工具、新型治疗方法和综合护理策略结合起来。
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引用次数: 0
Phenotype variability and therapeutic response to Patisiran in patients with hereditary transthyretin amyloidosis: a Belgian real-world experience. 遗传性甲状腺转蛋白淀粉样变性患者的表型变异性和对Patisiran的治疗反应:比利时的现实世界经验。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-02-19 DOI: 10.1080/17843286.2025.2464971
Stephanie Delstanche, Kristl G Claeys, De Bleecker, Gauthier Remiche, Pierre Troisfontaines, Vinciane Van Parys, Antoine Bondue

Introduction: Hereditary transthyretin amyloidosis (hATTRv) is a rare, genetic, adult-onset, multisystemic disorder which can affect diverse organs, including peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin and eyes. Currently, several disease-modifying treatments for hATTRv are available in Belgium including the TTR stabilizer tafamidis and TTR mRNA silencers patisiran and vutrisiran. Patisiran contains a small interfering RNA encapsulated into a lipid nanoparticle to deliver to hepatocytes, the main source of TTR protein production, thereby reducing TTR production.

Methods: We report and discuss five cases of hATTRv in different clinical scenarios that were successfully managed with patisiran, highlighting our real-world clinical practice.

Results: These cases illustrate that patisiran is effective to improve mild symptoms and stabilize the moderate ones. The cases also highlight the importance of red flags recognition to allow early diagnosis and treatment to prevent further disease progression.

Conclusion: Due to the multisystemic nature of the disease and its heterogeneous clinical presentation, close collaboration between neurologists and cardiologists is highly recommended, ideally within a multidisciplinary amyloidosis team, to provide holistic care in hATTRv patients.

简介:遗传性甲状腺转蛋白淀粉样变性(hATTRv)是一种罕见的、遗传性的、成人发病的多系统疾病,可影响周围神经、心脏、肾脏、胃肠道、肝脏、皮肤和眼睛等多个器官。目前,比利时有几种治疗hATTRv的治疗方法,包括TTR稳定剂tafamidis和TTR mRNA沉默剂patisiran和vutrisiran。Patisiran含有一个小的干扰RNA,被包裹在脂质纳米颗粒中,递送到肝细胞,肝细胞是TTR蛋白产生的主要来源,从而减少TTR的产生。方法:我们报告并讨论了5例在不同临床情况下成功治疗的hATTRv病例,突出了我们的现实世界的临床实践。结果:帕西兰对轻度症状有改善作用,对中度症状有稳定作用。这些病例还强调了识别危险信号的重要性,以便及早诊断和治疗,防止疾病进一步发展。结论:由于该疾病的多系统性质及其临床表现的异质性,强烈建议神经学家和心脏病学家密切合作,最好是在多学科淀粉样变性团队中,为hatv患者提供整体护理。
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引用次数: 0
Increased pulmonary arterial stiffness in Behçet's disease is independent of aortic arterial stiffness. behaperet病肺动脉硬度增高与主动脉硬度无关。
IF 1.6 4区 医学 Q2 Medicine Pub Date : 2024-12-01 Epub Date: 2025-03-17 DOI: 10.1080/17843286.2025.2480330
Serif Ahmet Kandemir, Ahmet Seyfeddin Gurbuz, Hasan Kan, Selami Aykut Temiz, Arzu Ataseven

Introduction: Behçet's disease (BD) is a vasculitis affecting multiple systems within the body and poses challenges due to its diverse organ involvement. This study investigates the relationship between systemic and pulmonary arterial parameters and the involvement of the disease, utilizing non-invasive measures to assess pulmonary and aortic stiffness in BD patients.

Methods: Transthoracic echocardiography and a blood pressure holter monitor were utilized to evaluate a total of 96 patients with BD and 51 healthy controls. Various parameters, including pulmonary pulse wave transit time (pPTT), pulmonary arterial stiffness (PAS), and aortic stiffness, were measured to investigate their association with BD and potential predictive value in disease progression.

Results: The PAS (kHz/sec) increased in BD patients (20.8 ± 5.8 vs 15.0 ± 2.7, p < 0.001), and this condition was associated with disease duration and C-Reactive protein (CRP) values (r = 0.361 p < 0.001, r = 0.377 p < 0.001, respectively). pPTT (sec) exhibited a significant decrease compared to the control group (0.16 ± 0.04 vs. 0.23 ± 0.05, p < 0.001), while no notable difference was detected in aortic stiffness parameters. In linear regression analysis CRP and disease duration were independent predictors of PAS, albeit age, left ventricle ejection fraction, aortic stiffness (pulse wave velocity) and activity score were not.

Conclusion: Increased PAS in BD is independent of aortic arterial stiffness. It is affected by inflammation and disease duration.

behet病(BD)是一种影响体内多个系统的血管炎,由于其累及多个器官而带来挑战。本研究探讨了系统和肺动脉参数与疾病累及之间的关系,利用无创措施评估BD患者的肺和主动脉僵硬度。方法:采用经胸超声心动图和动态血压监测对96例BD患者和51例健康对照进行评价。测量各种参数,包括肺脉冲波传递时间(pPTT)、肺动脉硬度(PAS)和主动脉硬度,以研究它们与BD的关系以及疾病进展的潜在预测价值。结果:BD患者PAS (kHz/sec)升高(20.8±5.8 vs 15.0±2.7,p r = 0.361 p r = 0.377 p p)。结论:BD患者PAS升高与主动脉僵硬度无关。它受炎症和病程的影响。
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引用次数: 0
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Acta Clinica Belgica
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