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Rare diseases and disorders and rare cardiovascular complications 罕见疾病和失调以及罕见的心血管并发症
Q4 Medicine Pub Date : 2019-04-04 DOI: 10.20418/JRCD.VOL4NO1.369
P. Podolec
In this issue, readers can find a review paper entitled “Superior vena cava syndrome associated with implantable cardiac devices procedures (RCDD code: VI-2A-5)”. In the title of this review, readers will find a new code from the upcoming ”Clinical classification of rare cardiac arrhythmogenic and conduction disorders, and rare arrhythmias” which is a part of ”Clinical classification of rare cardiovascular diseases and disorders”[1]. The authors, from the Medical University of Warsaw, discuss pathogenesis, aetiology, morbidity, risk factors for superior vena cava syndrome, its diagnostics and treatment.
在本期中,读者可以找到一篇题为“与植入式心脏装置手术相关的上腔静脉综合征(RCDD代码:VI-2A-5)”的综述论文。在这篇综述的标题中,读者将会从即将出版的《罕见心血管疾病与疾患临床分类》[1]中的“罕见心源性与传导障碍及罕见心律失常临床分类”中找到新的编码。来自华沙医科大学的作者讨论了上腔静脉综合征的发病机制、病因、发病率、危险因素、诊断和治疗。
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引用次数: 0
Hypertrophic cardiomyopathy – symptomatic atrial fibrillation in a patient at high risk of sudden cardiac death (RCD code: V-2A.2) 肥厚性心肌病——心源性猝死高危患者的症状性心房颤动(RCD代码:V-2A.2)
Q4 Medicine Pub Date : 2019-03-29 DOI: 10.20418/JRCD.VOL4NO1.346
Adam Gębka, R. Rajtar-Salwa, M. Jastrzębski, P. Petkow-Dimitrow
We present the case of a young patient with significant left ventricular hypertrophy as a common representation of the hypertrophic cardiomyopathy (HCM) phenotype. The clinical presentation and diagnostic route of the disease (despite negative genotype), which can be found in everyday cardiology practice, are shown. Despite the presence of guidelines on this topic, each clinical case is demanding, especially during qualification for invasive procedures. Limited data about the periprocedural risk of catheter ablation and success rate in HCM makes physician decisions for this type of patient challenging. The importance of informed consent and how the patient’s decisions affet further progress are also shown. JRCD 2018; 4 (1): 18-21.
我们提出的情况下,一个年轻的病人显著的左心室肥厚作为肥厚性心肌病(HCM)表型的共同代表。该疾病的临床表现和诊断途径(尽管基因型为阴性),可以在日常心脏病学实践中发现,显示。尽管存在关于该主题的指南,但每个临床病例都要求很高,特别是在侵入性手术的资格认证过程中。关于HCM的导管消融围手术期风险和成功率的有限数据使得医生对这类患者的决策具有挑战性。知情同意的重要性以及患者的决定如何影响进一步的进展也被展示出来。JRCD 2018;4(1): 18-21。
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引用次数: 0
Carotid body paragangliomas – clinical variety and management (RCD code: I-O) 颈动脉体副神经节瘤-临床变化和管理(RCD代码:I-O)
Q4 Medicine Pub Date : 2019-03-29 DOI: 10.20418/JRCD.VOL4NO1.354
J. Chmiel, P. Loska, A. Brzychczy, P. Iwaszczuk, J. Krzywoń, Katarzyna Zbierska-Rubinkiewicz, T. Kwiatkowski, J. Krzywoń, Jakub Giliavas, M. Trystuła
Paragangliomas (PGLs) are a group of rare, slow-growing tumours which are found between the base of the skull and the pelvis. The tumour may be asymptomatic, although a lump on the neck, cranial nerve palsy, or neck pain may be present. The treatment of choice is surgical resection. We present the cases of 7 patients (6 females) diagnosed with 9 PGLs of the carotid body (carotid body tumours – CBTs). These include: one case with known genetic burden, one of an advanced bilateral and recurrent tumour, and one with a malignant tumour. All presented CBTs were surgically removed. The size of a tumour correlates with postoperative complications. Resection of the largest lesion was associated with persistent left recurrent laryngeal, hypoglossal, and partial facial nerve paralysis. Other complications included single cranial nerve palsy and temporary Horner syndrome. JRCD 2018; 4 (1): 9-14.
副神经节瘤(PGLs)是一组罕见的,生长缓慢的肿瘤,发现于颅底和骨盆之间。虽然颈部有肿块、脑神经麻痹或颈部疼痛,但肿瘤可能无症状。治疗的选择是手术切除。我们报告了7例(6名女性)诊断为颈动脉体9个pgl(颈动脉体肿瘤- cbt)的病例。其中包括:1例已知遗传负担,1例晚期双侧肿瘤和复发性肿瘤,1例恶性肿瘤。所有出现的cbt均通过手术切除。肿瘤的大小与术后并发症有关。切除最大的病变伴有持续的左侧喉返、舌下和部分面神经麻痹。其他并发症包括单侧脑神经麻痹和暂时性霍纳综合征。JRCD 2018;4(1): 9-14。
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引用次数: 0
Intravascular large cell lymphoma mimicking central nervous system vasculitis in a patient with rheumatoid arthritis (RCD code: VI-2C.2) 类风湿性关节炎患者模拟中枢神经系统血管炎的血管内大细胞淋巴瘤(RCD代码:VI-2C.2)
Q4 Medicine Pub Date : 2019-03-29 DOI: 10.20418/JRCD.VOL4NO1.365
J. Sulicka-Grodzicka, M. Strach, K. Okoń, W. Wojciechowski, M. Korkosz
Increased incidence of lymphomas in patients with rheumatoid arthritis has been reported and may be associated with several factors, including genetic factors, chronic inflammation, and immunosuppressive treatment. Intravascular large cell lymphoma (ILCL) is a rare subtype of large cell lymphoma with undetectable lymphoma cells in peripheral blood and without any extravascular localisation. Diag- nosis is often delayed because bone marrow, spleen, and cerebrovascular fluid may not be involved and there are no specific laboratory studies for intravascular large cell lymphoma. We report the case of a 63-year-old woman with a 10-year history of seropositive rheumatoid arthritis and intravascular large cell lymphoma recognised at autopsy. The patient presented with progressive central nervous system-related symptoms mimicking vasculitis without lymphadenopathy or bone marrow involvement. Malignant lymphoproliferative disorders should be considered in RA patients with varying clinical presentation, even in the absence of lymphadenopathy and bone marrow involvement. JRCD 2018; 4 (1): 15-17.
据报道,类风湿性关节炎患者淋巴瘤发病率增加可能与多种因素有关,包括遗传因素、慢性炎症和免疫抑制治疗。血管内大细胞淋巴瘤(ILCL)是一种罕见的大细胞淋巴瘤亚型,在外周血中检测不到淋巴瘤细胞,没有任何血管外定位。由于骨髓、脾脏和脑血管液可能未受累,且血管内大细胞淋巴瘤没有专门的实验室研究,诊断常常被延迟。我们报告的情况下,63岁的妇女与10年的历史血清阳性类风湿关节炎和血管内大细胞淋巴瘤确认尸检。患者表现为进行性中枢神经系统相关症状,类似血管炎,但无淋巴结病或骨髓受累。在临床表现不同的RA患者中,即使没有淋巴结病变和骨髓受累,也应考虑恶性淋巴增生性疾病。JRCD 2018;4(1): 15-17。
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引用次数: 0
Primary hyperaldosteronism presenting as recurrent polymorphic ventricular tachycardia (RCDD code: VI-2) 原发性高醛固酮增多症表现为复发性多形性室性心动过速(RCDD代码:VI-2)
Q4 Medicine Pub Date : 2019-03-29 DOI: 10.20418/JRCD.VOL4NO1.341
M. Hrebenyk, Roman Komorovsky, Taras Bidovanets
Primary hyperaldosteronism (PH) is a frequently overlooked cause of secondary hypertension mostly due to an aldosterone-producing adrenal adenoma. We report the case of a 48-year-old female who presented with recurrent episodes of polymorphic ventricular tachycardia before an aldosterone-producing adrenal adenoma was diagnosed. Although her past medical history was remarkable for poorly-controlled hypertension since age 30, she had never been examined for secondary causes. The patient underwent adrenalectomy resulting in stabilisation of her clinical condition, although residual hypertension remained. Causes of atypical presentation and diagnostic pitfalls are discussed. JRCD 2018; 4 (1): 26-30.
原发性醛固酮增多症(PH)是继发性高血压的一个经常被忽视的原因,主要是由于醛固酮产生肾上腺腺瘤。我们报告的情况下,48岁的女性谁提出了反复发作的多形性室性心动过速前醛固酮产生肾上腺腺瘤被诊断。虽然她从30岁起就有控制不佳的高血压病史,但她从未检查过继发性原因。患者行肾上腺切除术后,临床情况稳定,但高血压仍存在。不典型的表现和诊断缺陷的原因进行了讨论。JRCD 2018;4(1): 26-30。
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引用次数: 0
Superior vena cava syndrome associated with implantable cardiac devices procedures (RCD code: VIII) 植入式心脏装置手术相关上腔静脉综合征(RCD代码:VIII)
Q4 Medicine Pub Date : 2019-03-12 DOI: 10.20418/JRCD.VOL4NO1.349
Szymon Jonik, Łukasz Januszkiewicz
INTRODUCTION: Superior vena cava (SVC) syndrome is a rare clinical disorder associated with obstructing venous outflow through the SVC. Although the most common cause is mediastinal tumors, the growing number of implantable cardiac devices procedures has resulted in more patients with SVC syndrome of non‐malignant etiology. DISCUSSION: It has been shown repeatedly that the use of cardiac implantable electronic devices (CIEDs) improves the quality of life of patients with symptomatic arrhythmias and reduces the mortality of patients at risk of sudden cardiac death, but the risk of complications also exists. CONCLUSION: The most common finding in patients with cardiac devices is asymptomatic venous thrombosis, but serious complications, including SVC obstruction should always be considered. The rapid identification of clinical symptoms and the implementation of appropriate measures are a key to preventing the morbidity and mortality of the patients. JRCD 2018; 4 (1): 5-8.
上腔静脉(SVC)综合征是一种罕见的临床疾病,与通过SVC阻塞静脉流出有关。虽然最常见的原因是纵隔肿瘤,但越来越多的植入式心脏装置手术导致了更多的非恶性病因的SVC综合征患者。讨论:多次研究表明,心脏植入式电子装置(CIEDs)的使用改善了有症状的心律失常患者的生活质量,降低了有心源性猝死风险患者的死亡率,但也存在并发症的风险。结论:在心脏装置患者中最常见的发现是无症状静脉血栓形成,但应始终考虑严重的并发症,包括SVC阻塞。快速识别临床症状并采取适当措施是预防患者发病和死亡的关键。JRCD 2018;4(1): 5-8。
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引用次数: 0
May-Thurner Syndrome – Diagnostic and therapeutic dilemmas (RCD code: I-1D.2) 梅-瑟纳综合征-诊断和治疗困境(RCD代码:I-1D.2)
Q4 Medicine Pub Date : 2019-03-12 DOI: 10.20418/JRCD.VOL4NO1.353
A. Szyszkowska, M. Giaro, P. Lisowski, R. Maciąg, A. Lisowska
May‐Thurner Syndrome is a rare vascular disease in which the right common iliac artery compresses the left common iliac vein. It occurs 5 times more often in women than in men, usually in their 20s and 40s. Patients suffer from deep vein thrombosis, post‐thrombotic syndrome, and pulmonary embolism. They usually present with swelling of the left leg, chronic leg pain, skin colour changes, tingling and/or numbness of the affected limb, varicosities, phlebitis, and venous stasis ulcers. Available diagnostic tests include venous duplex ultrasound, computed tomography, magnetic resonance imaging, venography, and intravascular ultrasound. Endovascular therapy, including angioplasty, stenting, and catheter‐directed thrombolysis is the current mainstay of treatment. Long‐term anticoagulation and elastic compression stockings are used to prevent recurrent blood clot formation and decrease the risk of post‐thrombotic syndrome. Thrombophilia screening is essential, as it would aid in the decision‐making process regarding continuation of anticoagulant therapy. We present the case of a 38‐year‐old woman in her fourth pregnancy, presenting with persistent left leg oedema and recurrent deep vein thrombosis, eventually diagnosed with May‐Thurner Syndrome. JRCD 2018; 4 (1): 22-25.
May - Thurner综合征是一种罕见的血管疾病,患者的右髂总动脉压迫左髂总静脉。女性的发病率是男性的5倍,通常发生在20多岁和40多岁。患者患有深静脉血栓、血栓后综合征和肺栓塞。他们通常表现为左腿肿胀、慢性腿痛、皮肤颜色改变、受累肢体刺痛和/或麻木、静脉曲张、静脉炎和静脉淤积溃疡。可用的诊断测试包括静脉双工超声、计算机断层扫描、磁共振成像、静脉造影和血管内超声。血管内治疗,包括血管成形术、支架植入和导管定向溶栓是目前的主要治疗方法。长期抗凝和弹性压缩袜用于防止血栓形成和降低血栓后综合征的风险。血栓病筛查是必不可少的,因为它将有助于抗凝治疗继续的决策过程。我们报告了一位38岁的第四次怀孕女性,表现为持续的左腿水肿和复发性深静脉血栓形成,最终被诊断为May - Thurner综合征。JRCD 2018;4(1): 22-25。
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引用次数: 0
Classification of rare cardiovascular diseases and disorders: challenges in categorisation of different diseases 罕见心血管疾病和失调的分类:不同疾病分类的挑战
Q4 Medicine Pub Date : 2019-03-05 DOI: 10.20418/JRCD.VOL3NO8.366
A. Przybylski
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引用次数: 0
More on the 2018 update of “Clinical classification of rare cardiovascular diseases and disorders” 更多关于2018年更新的《罕见心血管疾病与疾患临床分类》
Q4 Medicine Pub Date : 2019-03-05 DOI: 10.20418/JRCD.VOL3NO8.367
P. Podolec
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引用次数: 0
Spirituality/religiosity of man from the perspective of quality of life – a review of Polish research in social studies 从生活质量的角度看人的灵性/宗教性——波兰社会研究述评
Q4 Medicine Pub Date : 2019-03-01 DOI: 10.20418/JRCD.VOL3NO8.339
Joanna M. Łukasik, K. Jagielska, N. Pikuła
Research into the spirituality/religiosity of patients is considered as an important area of study, together with studies of quality of life (QoL).The purpose of this article was to recognise if and how the category of spirituality/religiosity is regarded from a QoL perspective. To reach this goal, a review of Polish research in various fields of social sciences (psychology, sociology, pedagogy) was conducted. The scope of these studies was determined and indicators of spirituality/religiosity were explored from the viewpoint of various theories with special emphasis on those relating to the QoL. JRCD 2018; 3 (8): 259–265
与生活质量(QoL)研究一样,对患者的灵性/宗教信仰的研究被认为是一个重要的研究领域。本文的目的是从生活质量的角度来认识是否以及如何看待灵性/宗教信仰的范畴。为了实现这一目标,对波兰在社会科学各个领域(心理学、社会学、教育学)的研究进行了审查。确定了这些研究的范围,并从各种理论的角度探讨了灵性/宗教虔诚度的指标,特别强调了与生活质量有关的指标。JRCD 2018;3 (8): 259-265
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引用次数: 1
期刊
Journal of Rare Cardiovascular Diseases
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