European Medical Journal最新文献_第2页

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

European Medical Journal Pub Date : 2024-06-13 DOI: 10.33590/emj/mkpn4473

L. Ong

{"title":"Editor’s Pick: Genetics and Pathophysiology of Co-occurrence of Congenital Heart Disease and Autism Spectrum Disorder","authors":"L. Ong","doi":"10.33590/emj/mkpn4473","DOIUrl":"https://doi.org/10.33590/emj/mkpn4473","url":null,"abstract":"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.","PeriodicalId":505023,"journal":{"name":"European Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141345059","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

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

European Medical Journal Pub Date : 2024-06-13 DOI: 10.33590/emj/fumo2589

Fabiola Di Dato, Peter Hedera

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

European Medical Journal Pub Date : 2024-06-13 DOI: 10.33590/emj/numw4697

Shatavisa Mukherjee, S. Tripathi, Bibhuti Saha

{"title":"Caregiver Burden, Resilience, and Wellbeing in Cases of Severe Cutaneous Adverse Drug Reactions","authors":"Shatavisa Mukherjee, S. Tripathi, Bibhuti Saha","doi":"10.33590/emj/numw4697","DOIUrl":"https://doi.org/10.33590/emj/numw4697","url":null,"abstract":"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.\u0000\u0000Aim: This study aimed to explore the caregiver’s burden and resilience in patients experiencing SCARs.\u0000\u0000Methods: 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).\u0000\u0000Results: 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).\u0000\u0000Conclusion: 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.","PeriodicalId":505023,"journal":{"name":"European Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141347440","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

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

European Medical Journal 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

{"title":"Endovascular Stenting for Superior Vena Cava Syndrome – A Systematic Review","authors":"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","doi":"10.33590/emj/afus6940","DOIUrl":"https://doi.org/10.33590/emj/afus6940","url":null,"abstract":"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.","PeriodicalId":505023,"journal":{"name":"European Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141347943","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

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

European Medical Journal Pub Date : 2024-06-13 DOI: 10.33590/emj/xyip3475

John Vissing, Tanja Taivassalo, Joanne Donovan

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

European Medical Journal Pub Date : 2024-06-01 DOI: 10.33590/emj/tfsh3080

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

European Medical Journal Pub Date : 2024-05-07 DOI: 10.33590/emj/cibi3508

Emj

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

European Medical Journal Pub Date : 2024-03-14 DOI: 10.33590/emj/11000020

Eleanor Roberts

{"title":"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","authors":"Eleanor Roberts","doi":"10.33590/emj/11000020","DOIUrl":"https://doi.org/10.33590/emj/11000020","url":null,"abstract":"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.","PeriodicalId":505023,"journal":{"name":"European Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140241926","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

Reviewing Advances in Bone Health 回顾骨骼健康方面的进展

European Medical Journal Pub Date : 2024-03-14 DOI: 10.33590/emj/10305848

Emj

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

European Medical Journal Pub Date : 2024-03-14 DOI: 10.33590/emj/10304060

Tim Brotherton, Maya Mahmoud, Sam Burton, Kamran Qureshi

{"title":"Liver Elastography for the Detection of Methotrexate-Induced Liver Injury: A Retrospective Study","authors":"Tim Brotherton, Maya Mahmoud, Sam Burton, Kamran Qureshi","doi":"10.33590/emj/10304060","DOIUrl":"https://doi.org/10.33590/emj/10304060","url":null,"abstract":"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.\u0000\u0000Aim: To assess the utility of TE in detecting liver fibrosis in patients with methotrexate use.\u0000\u0000Methods: 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.\u0000\u0000Results: 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).\u0000\u0000Conclusion: 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.","PeriodicalId":505023,"journal":{"name":"European Medical Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140243751","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