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Severe myopathy in a patient with chronic neurological disease – diagnostic challenges 慢性神经系统疾病患者的严重肌病-诊断挑战
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.2
Cristian-Mihai Ilie, Suzana Popescu, S. Daia-Iliescu, I. Saulescu, D. Predețeanu, V. Bojinca, A. Balanescu, D. Opriș-Belinski
Polymyositis is a rare disease that belongs to the idiopathic inflammatory myopathies (IIMs) group, characterized by chronic muscle inflammation, and in rare cases a life-threatening condition due to extra-muscular involvement. Even though steroids constitute the building block of treatment of this disease, in severe cases, escalation treatment should be considered in order to obtain good clinical outcomes. We report a clinical case of a 22-year-old female who developed progressive severe systemic muscular weakness, dysphagia and dysphonia, accompanied by elevated serum muscle enzymes, positive myositis-specific antibodies, and muscle biopsy suggestive of inflammatory myopathy. The clinical features and laboratory results led us to the diagnosis of polymyositis. On additional laboratory tests the patient tested positive for Borrelia burgdorferi (Borrelia b) specific antibodies. Due to life-threatening organ involvement the immunosuppressive treatment, immunoglobulin intravenous infusion and pulse therapy with methylprednisolone were initiated and she needed nasogastric tube in order to be fed. Furthermore antibiotic treatment was administrated. The patient improved almost completely after 3 months of treatment.
多发性肌炎是一种罕见的疾病,属于特发性炎症性肌病(IIMs)组,以慢性肌肉炎症为特征,在极少数情况下,由于额外的肌肉受累而危及生命。尽管类固醇是治疗这种疾病的基础,但在严重病例中,应考虑升级治疗,以获得良好的临床结果。我们报告了一例22岁女性的临床病例,她出现了进行性严重全身性肌无力、吞咽困难和发音困难,伴有血清肌酶升高、肌炎特异性抗体阳性和肌肉活检提示炎症性肌病。临床特征和实验室结果使我们得以诊断为多发性肌炎。在额外的实验室检测中,患者的伯氏疏螺旋体(b型疏螺旋体)特异性抗体检测呈阳性。由于涉及危及生命的器官,开始了免疫抑制治疗、免疫球蛋白静脉输注和甲基强的松龙脉冲治疗,她需要鼻胃管才能进食。此外,还进行了抗生素治疗。经过3个月的治疗,患者几乎完全好转。
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引用次数: 0
A rare association of multiple sclerosis and systemic lupus erythematosus - A case report 多发性硬化症与系统性红斑狼疮的罕见关联——一例报告
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.3
Luana Stanciu, Silviu Stanciu, Simona Petrescu, M. Agache, C. Popescu, C. Codreanu
Although both systemic lupus erythematosus (SLE) and multiple sclerosis (MS) are autoimmune diseases, their simultaneous presence in the same patient is rare. Case report. We present the case of a 26-year-old woman who was diagnosed with MS and underwent treatment with interferon beta 1-alfa. After 2 years, she developed cutaneous lesions subsequent to a systemic disorder. After multiple serological tests were conducted, the diagnosis of SLE was established and hydroxychloroquine was added to the patient’s treatment. Conclusion. The presented case report is one of only a few cases published on the association of the two autoimmune diseases.
尽管系统性红斑狼疮(SLE)和多发性硬化症(MS)都是自身免疫性疾病,但它们同时存在于同一患者中的情况很少见。病例报告。我们报告了一例26岁的女性,她被诊断为多发性硬化症,并接受了干扰素β1-alfa的治疗。2年后,她出现全身性疾病后的皮肤病变。经过多次血清学检查,确定了SLE的诊断,并在患者的治疗中加入了羟氯喹。结论本病例报告是发表在这两种自身免疫性疾病之间的少数病例之一。
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引用次数: 0
Antiphospholipid syndrome, ferritin and fever: Hyperferritinemic syndrome a nosological ally 抗磷脂综合征、铁蛋白和发烧:高铁素血症综合征是病毒学上的盟友
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.6
Andrei Blanaru, Mara Adelina Benchea, Doina Nitescu, Iulia Diana Florescu, Razvan Adrian Ionescu
Hyperferritinemic syndrome represents a common nosological classification for systemic inflammatory syndromes, including Catastrophic antiphospholipid syndrome, in which hyperferritinemia (> 500 ng/mL) is present. Recent studies suggest that in this syndrome, ferritin is more than a passive marker of inflammation, playing an active role in the process. We present the case of a 74-year-old female patient with elevated serum ferritin levels (above 1000 ng/mL), along with an intense inflammatory syndrome, non-immune thrombotic microangiopathy, and multisystem involvement (pulmonary, cardiac, hepatic, pancreatic, neurological and renal changes), outlining the picture of a hyperferritinemic syndrome that is hard to classify otherwise. This underlines the necessity for diagnostic and classification criteria for this pathology.
高铁素血症综合征是全身性炎症综合征的常见分类学分类,包括灾难性抗磷脂综合征,其中高铁素血症(>500 ng/mL)。最近的研究表明,在这种综合征中,铁蛋白不仅仅是炎症的被动标记物,而是在这一过程中发挥积极作用。我们报告一名74岁女性患者,血清铁蛋白水平升高(高于1000 ng/mL),伴有强烈炎症综合征,非免疫性血栓性微血管病变,多系统受累(肺、心、肝、胰腺、神经和肾脏改变),概述了高铁蛋白血症综合征的情况,否则很难分类。这强调了这种病理诊断和分类标准的必要性。
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引用次数: 0
Ethnicity, hypermobility syndrome and Ehlers-Danlos syndrome: A study based on hospital admissions 种族、多动综合征和Ehlers-Danlos综合征:一项基于医院入院情况的研究
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.1
A. Farrukh, J. F. Mayberry
The purpose of the study was to identify any evidence of different patterns of disease for Ehlers Danlos Syndrome (EDS) and Hypermobility Syndrome (JHS) in the White British and South Asian communities in England. The numbers of hospital in-patients in ten NHS Trusts, between 2016 and 2020, in whom a diagnosis of EDS or JHS had been recorded were identified through Freedom of Information (FOI) requests. The condition was either the primary diagnosis or a secondary one, incidental to the reason for admission. The ten Trusts were selected because they served areas with a significant South Asian population and had been involved in previous studies of discrimination in the delivery of care. The study also assessed whether there was evidence of any of the Trusts underserving their South Asian community with lesser levels of recognition of EDS and JHS. Overall South Asian patients were almost four times more likely to have been diagnosed as having JHS. This proportion was statistically significant (z = -11.69, p <0.00001). In Burton and Derby, Cambridge and Leicester the proportion of South Asian patients diagnosed as having EDS was significantly lower than in other Trusts (z = 9.4, p <0.00001). This was also the case for JHS (z = 8.09, p < 0.00001). This would indicate that in these three Trusts both conditions are underdiagnosed in the South Asian community. The significance of these findings is discussed.
这项研究的目的是确定在英国白人和南亚社区中埃勒斯-丹洛斯综合征(EDS)和行动过度综合征(JHS)不同疾病模式的任何证据。2016年至2020年间,通过信息自由(FOI)请求,确定了10个NHS信托机构中记录有EDS或JHS诊断的住院患者人数。这种情况要么是初级诊断,要么是次要诊断,是入院原因引起的。之所以选择这十个信托基金,是因为它们服务于南亚人口众多的地区,并且参与了之前关于提供护理时歧视的研究。该研究还评估了是否有证据表明任何信托机构对EDS和JHS的认可程度较低,对其南亚社区的服务不足。总体而言,南亚患者被诊断为JHS的可能性几乎是其他患者的四倍。这一比例具有统计学意义(z=-11.69,p<0.00001)。在Burton和Derby,剑桥和莱斯特的南亚患者被诊断为EDS的比例明显低于其他信托基金(z=9.4,p<0.00001)。JHS也是如此(z=8.09,p<.00001)。这表明在这三个信托基金中,南亚社区对这两种情况的诊断都不充分。讨论了这些发现的意义。
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引用次数: 0
Diagnosis delay in Egyptian rheumatoid-arthritis-patients: underlying factors and outcomes — retrospective observational study 埃及风湿性关节炎患者的诊断延迟:潜在因素和结果-回顾性观察研究
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.5
Sarah A. Sakr, Nora Y. Elsaid, Wafaa H. Hssein, Sherif M. Gamal
Background. Early initiation of Rheumatoid Arthritis (RA) treatment leads to better outcomes and low disease activity. In spite of these, there is a significant delay between symptom onset and the initiation of therapy. Objective. This study aimed to investigate this diagnostic delay and to analyze its associated factors and outcomes. Patients and method. This cross sectional study included 167 RA patients fulfilling the 2010 American College of Rheumatology/ European League against Rheumatism (ACR/EULAR) classification criteria. All patients were subjected to full clinical, laboratory and radiological assessment and treatment received, also; Disease Activity Score (DAS-28) &functional disability evaluation using Modified Health Assessment Questionnaire (MHAQ) MHAQ were reported. Diagnostic delay was assessed regarding duration, associated factors and outcomes. Furthermore, RA patients were divided into early and late diagnosis group with cutoff of one year and were compared regarding different disease parameters. Results. The median (IQR) lag in diagnosis of RA patients was 12 months (4 24), MHAQ score was significantly positively correlated with delay in diagnosis (P=0.02). Early diagnosis group patients were statistically significantly urban resident (P= 0.01), employed (P= 0.02), with higher educational level (P=0.02), lower functional index MHAQ (P= 0.02), and were significantly visiting Rheumatology specialty early in the disease compared to late diagnosis group (P= <0.0001). Conclusion. Early diagnosis is still suboptimal. Unemployment, specialty visited first other than rheumatology, female gender, rural residence, and lower educational level was associated with the delay in diagnosis in RA patients. Patients with delayed diagnosis showed worse functional disability index.
背景。类风湿关节炎(RA)治疗的早期开始导致更好的结果和低疾病活动。尽管如此,在症状发作和开始治疗之间有一个显著的延迟。目标。本研究旨在探讨这种诊断延迟,并分析其相关因素和结果。患者和方法。本横断面研究纳入167例符合2010年美国风湿病学会/欧洲抗风湿病联盟(ACR/EULAR)分类标准的RA患者。所有患者都接受了全面的临床、实验室和放射学评估和治疗;采用改良健康评估问卷(MHAQ)对疾病活动度评分(DAS-28)和功能障碍进行评价。评估诊断延迟的持续时间、相关因素和结果。将RA患者分为早期诊断组和晚期诊断组,以1年为截断时间,对不同疾病参数进行比较。结果。RA患者诊断的中位延迟(IQR)为12个月(4 24),MHAQ评分与诊断延迟呈显著正相关(P=0.02)。早期诊断组患者在城市居民(P= 0.01)、在职(P=0.02)、文化程度较高(P=0.02)、功能指数MHAQ较低(P=0.02)、早期就诊风湿病专科的比例显著高于晚期诊断组(P= <0.0001)。结论。早期诊断仍然不够理想。失业、非风湿病专科就诊、女性、农村居住、低文化程度与RA患者诊断延迟相关。延迟诊断的患者功能障碍指数较差。
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引用次数: 0
Consequences of antiphospholipid syndrome in pregnancy - A review 妊娠期抗磷脂综合征的后果综述
Q4 Medicine Pub Date : 2023-06-30 DOI: 10.37897/rjr.2023.2.4
Astrit M. Gashi
Background and objectives. Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies (aPL) in the blood. Antiphospholipid syndrome is defined by the presence of antiphospholipid antibodies, including lupus anticoagulant, anticardiolipin antibodies, and anti-beta-2 glycoprotein I antibodies. These antibodies target phospholipids-binding proteins and can leading to various clinical manifestations and complications of thromboembolic nature. Also, the antiphospholipid syndrome is strongly linked to adverse pregnancy outcomes, including recurrent miscarriages, fetal growth restriction, preeclampsia, and preterm birth. Placental dysfunction, impaired blood flow to the fetus, and thrombotic events within the placenta contribute to these complications. The purpose of this review was the research of consequences of antiphospholipid syndrome in pregnancy. Materials and methods. This research involves systematically reviewing and analyzing existing literature on consequences of antiphospholipid syndrome in pregnancy. For relevant literature, academic databases like Pub Med, Scopus, Web of Science, and Google Scholar were used. Search terms and keywords that were used to search for relevant literature in databases was: antiphospholipid syndrome; pregnancy; consequences, and Boolean operator (AND, OR). The criteria used to include literature in this review were; publication date, language, study objectives, study design, research methodology, key findings, and relevance to my research question. For citation and referencing were used the appropriate citation style (e.g., APA, MLA, Chicago, Harvard and Vancouver). Results. The main findings in this review were that antiphospholipid syndrome (APS) of characterizing by dysregulation of the immune system and the production of autoantibodies. These autoantibodies can target various cells and proteins, leading to inflammation, tissue damage, and disrupted physiological processes. This syndrome is associated with a prothrombotic state, increasing the risk of blood clots in veins and arteries. Antiphospholipid syndrome (APS) can affect multiple organs and systems, including the skin, kidneys, heart, and central nervous system. Thrombotic events can occur in various organs, leading to deep vein thrombosis, pulmonary embolism, strokes, and other thromboembolic complications. Also, the antiphospholipid syndrome is strongly linked to adverse pregnancy outcomes, including recurrent miscarriages, fetal growth restriction, preeclampsia, and preterm birth. Placental dysfunction, impaired blood flow to the fetus, and thrombotic events within the placenta contribute to these complications. Manifestations may include skin rashes (livedo reticularis), kidney involvement (glomerulonephritis), heart valve abnormalities, and neurological symptoms etc. Conclusions. We come to the conclusion that it is essential for the pregnant women with antiphospholipid syndrome to receiv
背景和目标。抗磷脂综合征(APS)是一种以血液中存在抗磷脂抗体(aPL)为特征的自身免疫性疾病。抗磷脂综合征的定义是存在抗磷脂抗体,包括狼疮抗凝血剂、抗心磷脂抗体和抗β -2糖蛋白I抗体。这些抗体针对磷脂结合蛋白,可导致各种临床表现和血栓栓塞性并发症。此外,抗磷脂综合征与不良妊娠结局密切相关,包括复发性流产、胎儿生长受限、先兆子痫和早产。胎盘功能障碍、胎儿血流受损和胎盘内血栓形成事件均可导致这些并发症。本综述的目的是研究抗磷脂综合征对妊娠的影响。材料和方法。本研究系统地回顾和分析了妊娠期抗磷脂综合征后果的现有文献。相关文献使用Pub Med、Scopus、Web of Science、b谷歌Scholar等学术数据库。在数据库中检索相关文献的检索词和关键词为:抗磷脂综合征;怀孕;结果和布尔运算符(and, OR)。本综述纳入文献的标准是;出版日期、语言、研究目标、研究设计、研究方法、主要发现以及与我的研究问题的相关性。在引用和参考文献方面,我们使用了适当的引用格式(例如APA、MLA、Chicago、Harvard和Vancouver)。结果。本文综述了以免疫系统失调和自身抗体产生为特征的抗磷脂综合征(APS)。这些自身抗体可以针对各种细胞和蛋白质,导致炎症、组织损伤和生理过程中断。这种综合征与血栓形成前状态有关,增加了静脉和动脉血栓形成的风险。抗磷脂综合征(APS)可影响多个器官和系统,包括皮肤、肾脏、心脏和中枢神经系统。血栓事件可发生在各个器官,导致深静脉血栓形成、肺栓塞、中风和其他血栓栓塞并发症。此外,抗磷脂综合征与不良妊娠结局密切相关,包括复发性流产、胎儿生长受限、先兆子痫和早产。胎盘功能障碍、胎儿血流受损和胎盘内血栓形成事件均可导致这些并发症。表现可能包括皮疹(网状红斑)、肾脏受累(肾小球肾炎)、心脏瓣膜异常和神经系统症状等。结论。我们得出结论,有抗磷脂综合征的孕妇必须接受密切的监测和适当的管理,以降低这些妊娠并发症的风险和严重性。这可能包括抗凝治疗、定期产前护理、监测胎儿生长和健康以及及时处理并发症等干预措施。涉及产科医生、风湿病学家和其他医疗保健专业人员的多学科方法通常是必要的,以优化母亲和婴儿的结果。
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引用次数: 0
Anesthetic challenges in patients with ankylosing spondylitis requiring lower limb surgery – A case report and literature review 强直性脊柱炎患者需要下肢手术的麻醉挑战- 1例报告和文献综述
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.37897/rjr.2023.1.3
V. Zeca, A. Cotae, C. Cobilinschi, R. Ungureanu, R. Țincu, C. Cobilinschi, L. Mirea, I. Grințescu
Ankylosing spondylitis is one of the global top health burdens and patients affected by it frequently require surgery related to disease progression, such as orthopedic surgery. These patients may prove difficult to manage from an anesthetic standpoint, regardless of the anesthetic technique employed, mainly given the potential for difficult airway access and related comorbidities. We present the case of a 52-year-old male posted for urgent cemented total hip arthroplasty with associated bilateral pulmonary fibrosis and an anticipated difficult airway in whom regional anesthesia was performed with satisfactory results, with a favorable intraoperative and postoperative course. The literature review explores the anesthetic techniques employed when a tailored approach is required in managing patients with ankylosing spondylitis.
强直性脊柱炎是全球最大的健康负担之一,受其影响的患者经常需要与疾病进展相关的手术,如骨科手术。无论采用何种麻醉技术,从麻醉角度来看,这些患者可能难以管理,主要是由于可能存在气道通道困难和相关合并症。我们报告一名52岁男性患者因合并双侧肺纤维化和预期气道困难而接受紧急骨水泥全髋关节置换术的病例,该患者行区域麻醉,结果令人满意,术中和术后病程良好。本文献综述探讨了在强直性脊柱炎患者管理中需要定制方法时所采用的麻醉技术。
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引用次数: 0
An unusual clue in the diagnosis of primary Sjogren’s syndrome 原发性干燥综合征诊断中的一个不寻常的线索
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.37897/rjr.2023.1.4
E. Jugănaru, C. Cobilinschi, C. Jurcut, Andreea Birlez, D. Opriș-Belinski, A. Balanescu
Sjogren’s syndrome (SSj) is a chronic autoimmune disease mainly targeting the exocrine glands, but sometimes associating extra-glandular manifestations. Xerosis, purpura, Raynaud’s phenomenon, cutaneous vasculitis, annular erythema are the main forms of skin involvement. A 26-year-old female patient was admitted for diffuse erythematous rash and angioedema, xerophthalmia and symmetrical arthralgia of hand joints. Anti-nuclear antibodies, anti-SSA and anti-Ro52 antibodies were identified, Schirmer’s test was positive, thus the diagnoses of primary SSj and associated urticarial vasculitis were established. Treatment with oral methylprednisolone, azathioprine and hydroxychloroquine was initiated, with favorable response over the next week. Patients with primary SSj that develop cutaneous vasculitis, lymphadenopathies or lymphopenia may be at risk for additional extra-glandular manifestations, including non-Hodgkin lymphoma.
干燥综合征(SSj)是一种慢性自身免疫性疾病,主要以外分泌腺为靶点,但有时也伴有腺外表现。干枯、紫癜、雷诺现象、皮肤血管炎、环状红斑是皮肤受累的主要形式。患者女,26岁,因弥漫性红斑皮疹、血管性水肿、干眼症及手部关节对称痛入院。检测到抗核抗体、抗ssa抗体和抗ro52抗体,Schirmer试验阳性,确定原发性SSj及相关荨麻疹血管炎的诊断。开始口服甲基强的松龙、硫唑嘌呤和羟氯喹治疗,在接下来的一周有良好的反应。原发性SSj患者如果出现皮肤血管炎、淋巴结病或淋巴减少症,可能会出现其他腺外表现,包括非霍奇金淋巴瘤。
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引用次数: 0
Use of bisphosphonates in bone pathology – benefits and risks 双膦酸盐在骨病理学中的应用-益处和风险
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.37897/rjr.2023.1.6
D. Antonescu, C. Stoica
This article aims to establish, on the basis of medical literature and of the authors’ experience, whether bisphosphonates still have a role in treating skeletal diseases, with increased bone resorption. The effects of bisphosphonates on the bone tissue, as well as the diseases in which they are recommended and the benefits obtained are reviewed. Possible side effects are emphasized, both the immediate ones, which are better known and the late ones, occurring after a long-term administration. It is shown that the benefit/risk ratio remains favorable. The conclusions highlight the fact that nowadays bisphosphonates still have an important place in the treatment of skeletal diseases.
本文旨在根据医学文献和作者的经验,确定双磷酸盐是否仍在治疗骨吸收增加的骨骼疾病中发挥作用。综述了双磷酸盐对骨组织的影响,以及推荐使用双磷酸盐的疾病和获得的益处。强调了可能的副作用,包括更为人所知的即时副作用和长期给药后出现的晚期副作用。结果表明,收益/风险比仍然是有利的。这些结论强调了一个事实,即如今双膦酸盐在治疗骨骼疾病中仍然具有重要地位。
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引用次数: 0
Impact of augmented reality on sports performance of disabled 增强现实技术对残疾人运动表现的影响
Q4 Medicine Pub Date : 2023-03-31 DOI: 10.37897/rjr.2023.1.7
Naila Bali, A. Fridhi
Physical inactivity is a major 21st century public health problem for people with disabilities. The practice of sport in an augmented reality environment appears to be an interesting alternative to promote physical practice for people with disabilities. In this article, our research study will be based on the one hand on the impact and the capacity to increase motivation in rehabilitation by augmented reality (AR) with this population and on the other hand on the degree of acceptability of physical activity (PA) using avatars modeled in three dimensions (3D).
缺乏体育锻炼是21世纪残疾人面临的一个重大公共卫生问题。在增强现实环境中进行体育锻炼似乎是促进残疾人体育锻炼的一种有趣的选择。在本文中,我们的研究将一方面基于增强现实(AR)对该人群的影响和提高康复动机的能力,另一方面基于使用三维(3D)建模的化身进行体育活动(PA)的可接受程度。
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引用次数: 0
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Revista Romana de Reumatologie
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