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Editor’s Pick: Genetics and Pathophysiology of Co-occurrence of Congenital Heart Disease and Autism Spectrum Disorder 编辑推荐:先天性心脏病和自闭症谱系障碍并发症的遗传学和病理生理学
Pub Date : 2024-06-13 DOI: 10.33590/emj/mkpn4473
L. Ong
There is increasing evidence demonstrating that children with congenital heart disease (CHD) have a greater risk of developing autism spectrum disorder (ASD) in later life. This review aims to summarise the genetics and pathophysiology underlying both conditions. A PubMed search was performed to identify relevant studies exploring the comorbidities of ASD and CHD. The comorbidities of ASD and CHD can be explained by the influence of common and rare variants that contribute to genetic risks. De novo mutations in chromatin remodelling genes, and common genetic loci in the development of brain and heart in utero, can lead to the co-occurrence of ASD and CHD. Furthermore, there are several cases of syndromic ASD with concurrent CHD presentation. Foetuses with CHD may have abnormal haemodynamic changes and alteration of brain circulation in utero, resulting in impaired development of the brain, and increased risk of ASD. Abnormal brain development or brain injury as observed in MRI studies of infants with CHD may also contribute to the risk of ASD. Children with CHD should have regular neurodevelopmental assessment to screen for ASD symptoms for early diagnosis and intervention.
越来越多的证据表明,患有先天性心脏病(CHD)的儿童日后患自闭症谱系障碍(ASD)的风险更大。本综述旨在总结这两种疾病的遗传学和病理生理学基础。我们在 PubMed 上进行了搜索,以确定探讨 ASD 和 CHD 并发症的相关研究。ASD和CHD的并发症可通过导致遗传风险的常见和罕见变异的影响来解释。染色质重塑基因的新突变以及子宫内大脑和心脏发育的常见基因位点可导致 ASD 和先天性心脏病并发。此外,有几例综合征 ASD 同时伴有先天性心脏病。患有先天性心脏病的胎儿可能在子宫内出现血流动力学异常变化和脑循环改变,导致大脑发育受损,增加 ASD 的风险。对患有先天性心脏病的婴儿进行的磁共振成像研究发现,大脑发育异常或脑损伤也可能导致 ASD 的风险。患有先天性心脏病的儿童应定期进行神经发育评估,筛查 ASD 症状,以便早期诊断和干预。
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引用次数: 0
Zinc for Wilson’s Disease: What We Know and What We Don’t Know 锌治疗威尔逊氏病:我们所知道的和我们所不知道的
Pub Date : 2024-06-13 DOI: 10.33590/emj/fumo2589
Fabiola Di Dato, Peter Hedera
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引用次数: 0
Caregiver Burden, Resilience, and Wellbeing in Cases of Severe Cutaneous Adverse Drug Reactions 严重皮肤药物不良反应病例中护理人员的负担、复原力和幸福感
Pub Date : 2024-06-13 DOI: 10.33590/emj/numw4697
Shatavisa Mukherjee, S. Tripathi, Bibhuti Saha
Background: Severe cutaneous adverse reactions (SCAR) can be traumatic and emotionally distressing for both the patients and their families. However, caregivers must also take care of themselves to prevent burnout. They should seek respite when needed, and prioritise self-care activities that maintain their own wellbeing.Aim: This study aimed to explore the caregiver’s burden and resilience in patients experiencing SCARs.Methods: A cross-sectional observational study included patients experiencing SCARs who presented with their caregivers. Patients and their caregivers were enquired about their sociodemographic variables, and were administered the Brief Resilience Scale (BRS). Caregivers were further given the Burden Scale for Family Caregivers (BSFC) and the World Health Organization Quality of Life Brief (WHOQOL-BREF).Results: Quality of life assessment suggested diminished physical and psychological health among the caregivers. Burden grade conferred 27.1% of caregivers experiencing severe burden, while 56.5% and 16.5% of caregivers experienced mild and moderate burden, respectively. Furthermore, 85.9% of caregivers showed low resilience. Increase in reaction severity was associated with greater caregiver burden and low resilience (p=0.001). Higher age and lower socioeconomic strata were also associated with increased burden and lesser caregiver resilience (p<0.001).Conclusion: Providing care for individuals with SCARs can be physically and emotionally demanding, requiring assistance with daily activities, wound care, and medication management. Caregivers may face challenges as they navigate the complexities of the condition; hence, understanding and addressing the challenges faced by caregivers is of utmost importance.
背景:严重皮肤不良反应(SCAR)可能会给患者及其家属造成创伤和情绪困扰。然而,护理人员也必须照顾好自己,以防倦怠。目的:本研究旨在探讨经历皮肤不良反应(SCAR)的患者中护理人员的负担和适应能力:这项横断面观察研究的对象包括与护理人员一同前来就诊的 SCARs 患者。研究人员询问了患者及其护理人员的社会人口学变量,并对他们进行了简易复原力量表(BRS)测试。照顾者还接受了家庭照顾者负担量表(BSFC)和世界卫生组织生活质量简表(WHOQOL-BREF):结果:生活质量评估结果表明,照顾者的身体和心理健康都有所下降。27.1%的护理人员的负担等级为重度,56.5%的护理人员的负担等级为轻度,16.5%的护理人员的负担等级为中度。此外,85.9% 的照顾者表现出低复原力。反应严重程度的增加与照顾者负担加重和抗逆能力低有关(p=0.001)。较高的年龄和较低的社会经济阶层也与护理负担加重和护理人员复原力降低有关(p<0.001):为罹患 SCAR 的患者提供护理在体力和情感上都是一项艰巨的任务,需要在日常活动、伤口护理和药物管理方面提供帮助。护理人员在应对复杂病情的过程中可能会面临各种挑战;因此,了解和应对护理人员面临的挑战至关重要。
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引用次数: 0
Endovascular Stenting for Superior Vena Cava Syndrome – A Systematic Review 上腔静脉综合征的血管内支架植入术 - 系统综述
Pub Date : 2024-06-13 DOI: 10.33590/emj/afus6940
O. Anyagwa, Oluwatoyin Adalia Dairo, R. Tak, Lamia A. Alkodami, Mohammad Azim, Swapnil Ahuja, Kenas Shaji Oommen, Maryam Shakeel, Divine-Blessing Chinwendu Ajah, Shaima Alkodami, Lika Kervalidze, Maha Kassem
Superior vena cava syndrome (SVCS) results from the obstruction or narrowing of the superior vena cava, causing venous congestion and various symptoms such as facial and upper limb swelling, shortness of breath, chest pain, coughing, and, in severe cases, dizziness and headache. The primary treatment for SVCS is balloon angioplasty with endovascular stenting. Post-procedural complications are influenced by factors such as SVCS aetiology, comorbidities, and the presence of arteriovenous fistulas. This review examined eight clinical studies to assess the effectiveness of percutaneous endovascular stenting and associated complications, focusing on improving patient prognosis. The research, conducted through internet search engines and reputable databases, revealed that percutaneous endovascular stenting demonstrated efficacy ranging from 95–100% in addressing SVCS. Common complications post-procedure included SVC narrowing recurrence, airway constriction, and mortality, often linked to malignancy. The findings emphasise the need to refine therapeutic approaches, especially in addressing the root cause of SVCS, which is frequently malignancy. Consequently, implementing additional protocols to reduce the risk of SVCS development is crucial. This comprehensive review provides insights into the effectiveness of endovascular stenting in treating SVCS, highlighting the importance of tailored approaches and ongoing efforts to enhance patient outcomes.
上腔静脉综合征(SVCS)是由上腔静脉阻塞或狭窄引起的,会导致静脉充血和各种症状,如面部和上肢肿胀、气短、胸痛、咳嗽,严重时还会出现头晕和头痛。SVCS 的主要治疗方法是球囊血管成形术加血管内支架植入术。手术后并发症受 SVCS 病因、合并症和是否存在动静脉瘘等因素的影响。本综述考察了八项临床研究,以评估经皮血管内支架置入术的有效性和相关并发症,重点是改善患者的预后。通过互联网搜索引擎和知名数据库进行的研究显示,经皮血管内支架置入术在治疗 SVCS 方面的有效率为 95%-100%。术后常见并发症包括SVC狭窄复发、气道狭窄和死亡率,通常与恶性肿瘤有关。研究结果强调了完善治疗方法的必要性,尤其是在解决 SVCS 的根本原因(通常是恶性肿瘤)方面。因此,实施更多方案以降低 SVCS 发生的风险至关重要。本综述深入探讨了血管内支架置入术治疗 SVCS 的有效性,强调了量身定制的方法和不断努力提高患者预后的重要性。
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引用次数: 0
Protecting and Preserving Dystrophic Muscle: The Balance Between Exercise and Contraction-Induced Muscle Injury 保护和保存萎缩性肌肉:运动与收缩引起的肌肉损伤之间的平衡
Pub Date : 2024-06-13 DOI: 10.33590/emj/xyip3475
John Vissing, Tanja Taivassalo, Joanne Donovan
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引用次数: 0
Enhancing Treatment Success in Osteoporosis: Optimising the Use of Teriparatide 提高骨质疏松症的治疗成功率:优化特立帕肽的使用
Pub Date : 2024-06-01 DOI: 10.33590/emj/tfsh3080
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引用次数: 0
Muscle Matters: Protein Requirements for Muscle Preservation During Ageing 肌肉的重要性:衰老过程中肌肉保存对蛋白质的需求
Pub Date : 2024-05-07 DOI: 10.33590/emj/cibi3508
Emj
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引用次数: 0
Sparsentan, a Dual Endothelin Type A and Angiotensin II Subtype 1 Receptor Antagonist for the Treatment of Immunoglobulin A Nephropathy: Latest Trial Results, Pharmacokinetic Considerations, and Binding Profile 用于治疗免疫球蛋白 A 肾病的双重内皮素 A 型和血管紧张素 II 亚型 1 受体拮抗剂 Sparsentan:最新试验结果、药代动力学考虑因素和结合概况
Pub Date : 2024-03-14 DOI: 10.33590/emj/11000020
Eleanor Roberts
Immunoglobulin A nephropathy (IgAN) is one of the most common forms of primary glomerulonephritis. In some patients, it can progress rapidly, leading to proteinuria, kidney failure, and death. Standard of care is traditionally with an angiotensin converting enzyme inhibitor (ACEi), or an angiotensin II (Ang II) receptor blocker (ARB). More recently, drugs targeting both endothelin 1 (ET-1) and Ang II receptors have been developed, as overactivation of such is implicated in IgAN. Sparsentan is a dual ET Type A (ETAR) and Ang II subtype 1 receptor (AT1R) antagonist. The PROTECT study compared sparsentan with the ARB irbesartan, in patients with IgAN and with proteinuria of ≥1 g/day despite stable dose of ACEi/ARB for ≥90 days. Data presented at the 2023 American Society of Nephrology (ASN) Kidney Week showed that use of sparsentan led to sustained (>110 weeks) decreases in proteinuria, and a significantly greater preservation of kidney function, compared with irbesartan. The ongoing SPARTAN study is investigating the use of sparsentan in recently diagnosed, treatment-naïve patients with IgAN. Preliminary data in 12 patients showed rapid and sustained proteinuria reductions, with little change from baseline in estimated glomerular filtration rate (eGFR), body weight, or total body water mean at Week 36. In both studies, sparsentan was generally well-tolerated with, in PROTECT, a comparable safety profile to irbesartan. Data presented at the congress also showed that sparsentan consistently occupies AT1R at levels exceeding ETAR occupancy. This balance is hypothesised to contribute to sparsentan’s limited risk of fluid retention.
免疫球蛋白 A 肾病(IgAN)是原发性肾小球肾炎中最常见的一种。有些患者病情发展迅速,可导致蛋白尿、肾衰竭和死亡。传统的标准治疗方法是使用血管紧张素转换酶抑制剂(ACEi)或血管紧张素 II(Ang II)受体阻滞剂(ARB)。最近,由于内皮素 1(ET-1)和血管紧张素 II 受体的过度激活与 IgAN 有关,针对这两种受体的药物应运而生。Sparsentan 是一种 A 型 ET(ETAR)和 Ang II 1 亚型受体(AT1R)双重拮抗剂。PROTECT研究比较了斯帕生坦和ARB厄贝沙坦对IgAN患者的治疗效果,这些患者在使用稳定剂量的ACEi/ARB≥90天后仍出现蛋白尿≥1克/天。在2023年美国肾脏病学会(ASN)肾脏周上公布的数据显示,与厄贝沙坦相比,使用司帕生坦可持续(>110周)减少蛋白尿,并显著提高肾功能保护水平。目前正在进行的 SPARTAN 研究正在调查斯帕生坦在新近确诊、治疗无效的 IgAN 患者中的应用情况。12例患者的初步数据显示,患者的蛋白尿迅速而持续地减少,但在第36周时,患者的估计肾小球滤过率(eGFR)、体重或体内总水分平均值与基线相比变化不大。在这两项研究中,斯帕生坦的耐受性普遍良好,在PROTECT研究中,其安全性与厄贝沙坦相当。大会上公布的数据还显示,斯帕生坦对AT1R的占用水平一直超过ETAR的占用水平。据推测,这种平衡有助于斯帕生坦降低体液潴留的风险。
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引用次数: 0
Reviewing Advances in Bone Health 回顾骨骼健康方面的进展
Pub Date : 2024-03-14 DOI: 10.33590/emj/10305848
Emj
The Bone Health Forum is a sponsored standalone event that unites top experts from the JAPAC region.
骨健康论坛是一项由赞助商主办的独立活动,汇聚了来自日本和太平洋地区的顶级专家。
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引用次数: 0
Liver Elastography for the Detection of Methotrexate-Induced Liver Injury: A Retrospective Study 用于检测甲氨蝶呤引起的肝损伤的肝脏弹性成像:一项回顾性研究
Pub Date : 2024-03-14 DOI: 10.33590/emj/10304060
Tim Brotherton, Maya Mahmoud, Sam Burton, Kamran Qureshi
Background: Liver biopsy, the gold standard for monitoring of methotrexate-induced liver injury, is associated with significant morbidity and mortality. Transient elastography (TE) has been used as a non-invasive alternative to detect liver stiffness.Aim: To assess the utility of TE in detecting liver fibrosis in patients with methotrexate use.Methods: A retrospective chart review was performed for 35 patients referred to the liver clinic for evaluation of suspected methotrexate-induced liver injury. Demographic, clinical, histopathological, and elastographic data were collected and interpreted. Liver stiffness measurement (LSM) and controlled attenuation parameter were recorded from TE results.Results: Thirty-five patients with a mean age of 58 years, including 23 females (66%), were included. The median LSM by TE was 10.8 kPa and the median controlled attenuation parameter was 303 dB/m. A total of 12 out of 35 patients (34%) had evidence of clinical and pathological advanced fibrosis. Using a cut-off elastography value of 10 kPa, the TE yielded 92% sensitivity and 93% negative predictive value for ruling out methotrexate-induced advanced liver fibrosis. Using a higher LSM cut-off point of kPa ≥15.0, specificity was calculated at 87% and positive predictive value at 80%. Area under the receiver operating characteristic curve was 0.80 (95% confidence interval).Conclusion: FibroScan® (Echosens, Paris, France) has a high sensitivity and specificity for kPa 10 and 15, respectively, for detecting advanced liver fibrosis in patients on methotrexate.
背景:肝活检是监测甲氨蝶呤引起的肝损伤的金标准,但它与严重的发病率和死亡率相关。目的:评估瞬态弹性成像(TE)在检测使用甲氨蝶呤患者肝纤维化方面的效用:方法:对35名因怀疑甲氨蝶呤诱发肝损伤而转诊至肝脏门诊进行评估的患者进行回顾性病历审查。收集并解释了人口统计学、临床、组织病理学和弹性成像数据。根据 TE 结果记录肝硬度测量(LSM)和受控衰减参数:共纳入 35 名患者,平均年龄 58 岁,包括 23 名女性(66%)。TE 测量的 LSM 中位数为 10.8 kPa,控制衰减参数中位数为 303 dB/m。35 名患者中,共有 12 人(34%)有临床和病理晚期纤维化的证据。采用 10 kPa 临界弹性成像值,TE 在排除甲氨蝶呤诱导的晚期肝纤维化方面的灵敏度为 92%,阴性预测值为 93%。使用更高的 LSM 临界点 kPa ≥15.0,特异性为 87%,阳性预测值为 80%。接收者操作特征曲线下面积为 0.80(95% 置信区间):结论:FibroScan®(法国巴黎 Echosens 公司)检测甲氨蝶呤患者晚期肝纤维化的灵敏度和特异性分别为 kPa 10 和 15。
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引用次数: 0
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European Medical Journal
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