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Differential Diagnosis of Cardiac Amyloidosis and Hypertrophic Cardiomyopathy 心脏淀粉样变性与肥厚性心肌病的鉴别诊断
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-360-370
M. S. Bychkova, E. V. Reznik, D. V. Ustyuzhanin, G. N. Golukhov
Diagnosis and differential diagnosis of cardiac amyloidosis and hypertrophic cardiomyopathy is difficult in some cases, which is confirmed by the presented clinical observation. The patient A., 67 years old, from the age of 59 for 7 years suffered from arterial hypertension with a maximum blood pressure of 170/100 mmHg, received hypotensive therapy. Myocardial infarction, a history of stroke denies. Since January 2018, at the age of 65, against the background of spontaneous stabilization of blood pressure figures, shortness of breath when climbing to the 2 nd floor, lifting weights, suffocation at night, swelling of the shins, feet, in connection with which I turned to a doctor. When examined on an electrocardiogram, a low voltage of QRS complexes in the leads from the extremities was noted, there was no increase in the amplitude of the r wave in V1–3. Echocardiography revealed a thickening of the interventricular septum and the posterior wall of the left ventricle up to 1.9 cm without obstruction of the outlet of the left ventricle, restrictive type of diastolic dysfunction, dilation of the left and right atria, moderate pulmonary hypertension, moderate amount of fluid in the pericardial cavity. Magnetic resonance imaging of the heart revealed a pattern typical of cardiac amyloidosis: diffuse subendocardial contrast of the myocardium of both ventricles in the absence of local contractility disorders, increased myocardial thickness in all segments, hydropericardium. Biopsy of the skin and subcutaneous fat with Congo red staining and polarization microscopy revealed no amyloid deposits. No mutations in the transthyretin gene responsible for transthyretin amyloidosis (ATTR–amyloidosis) were detected during the genetic study. Sequencing of 10 genes encoding myocardial sarcomeric proteins in the MYBPC3 gene revealed a mutation c.3197C >G (p.Pro1066Arg) in a heterozygous state, previously described in patients with hypertrophic cardiomyopathy of Slavic origin. Cascade family screening for the mutation was not carried out due to the fact that the patient did not know the father, the mother died at the age of 75 from heart failure, the only son died from an accident six months before the patient’s treatment. On 15.02.2019, the patient suffered a circulatory arrest with successful resuscitation measures. For the purpose of secondary prevention of sudden cardiac death, a single–chamber cardioverter-defibrillator was implanted on 22.02.2019. Despite the ongoing therapy, the patient died in March 2019. from progressive heart failure. Thus, a clinical case is presented where magnetic resonance imaging suspected amyloid cardiomyopathy, which did not receive morphological confirmation in biopsies of extra–cardiac localization. Hypertrophic cardiomyopathy caused by mutation c.3197C >G (p.Pro1066Arg) in the MYBPC3 gene was confirmed on the basis of clinical and instrumental and molecular genetic methods. The pattern characteristic of cardiac amyloidosis de
心脏淀粉样变和肥厚性心肌病的诊断和鉴别诊断在一些病例中是困难的,这是由本文的临床观察证实的。患者A, 67岁,59岁起患高血压7年,最高血压170/100 mmHg,接受降压治疗。心肌梗塞,否认有中风史。自2018年1月以来,65岁时,在血压数据自发稳定的背景下,爬到2楼时呼吸急促,举重,夜间窒息,胫骨肿胀,脚,为此我求助于医生。当检查心电图时,注意到来自四肢的导联的QRS复合物的低电压,V1-3的r波振幅没有增加。超声心动图示室间隔及左心室后壁增厚1.9 cm,无左心室出口梗阻,限制性舒张功能不全,左右心房扩张,中度肺动脉高压,心包腔内积液适量。心脏磁共振成像显示典型的心脏淀粉样变:在没有局部收缩性障碍的情况下,双心室心肌弥漫性心内膜下造影剂,各节段心肌厚度增加,心包积液。皮肤和皮下脂肪活检刚果红染色和偏振显微镜显示没有淀粉样蛋白沉积。在遗传研究中未检测到导致转甲状腺蛋白淀粉样变性(atr -淀粉样变性)的转甲状腺蛋白基因突变。对MYBPC3基因中心肌肉瘤蛋白编码的10个基因进行测序,发现了一个杂合状态的突变c.3197C >G (p.Pro1066Arg),此前曾在斯拉夫血统的肥厚性心肌病患者中发现。由于患者不认识父亲,母亲在75岁时死于心力衰竭,唯一的儿子在患者治疗前六个月死于事故,因此没有进行Cascade家族突变筛查。2019年2月15日,患者循环骤停,经抢救成功。为二级预防心源性猝死,于2019年2月22日植入单室转复除颤器。尽管正在进行治疗,但该患者于2019年3月死亡。进行性心力衰竭。因此,我们提出了一个临床病例,磁共振成像怀疑淀粉样心肌病,在心脏外定位的活检中没有得到形态学证实。通过临床、仪器和分子遗传学方法证实MYBPC3基因c.3197C >G (p.Pro1066Arg)突变引起的肥厚性心肌病。该患者的仪器检查方法描述的心脏淀粉样变性的模式特征可能是由于先前描述的MYBPC3基因的一些突变破坏了自噬过程,这可能导致心肌细胞中淀粉样包裹体的积累。对于复杂病例的心肌病的鉴别诊断,可能需要心内膜活检。不排除遗传决定的肥厚性心肌病和淀粉样蛋白心脏病共存的可能性。
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引用次数: 0
Difficulties in the Diagnosis and Management of Patients with Takayasu’s Arteritis: A Description of a 5-Year Clinical Follow-Up 高须动脉炎患者诊断和治疗的困难:一项5年临床随访的描述
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-377-384
A. V. Petrov, A. A. Zayaeva, J. V. Usachenko, V. A. Beloglazov, G. N. Коshukova, I. A. Yatskov, S. I. R. Younsi
Takayasu’s disease (nonspecific aortoarteritis) is a granulomatous inflammation of the aorta and its main branches with a progressive course and development of severe ischemic disorders. The difficulty of diagnosis and the possibility of applying various methods of pathogenetic anti-inflammatory treatment of Takayasu’s arteritis make it expedient to study a clinical case. The analysis of a clinical case of a patient with Takayasu’s arteritis with manifestation of the disease in the form of general inflammatory syndrome and manifestations of severe cerebral ischemia due to bilateral stenotic carotid artery lesion was performed. The patient has been under observation since September 2017 up to the present time, various methods of pharmacotherapy and surgical correction were used in her therapy. The dynamics of clinical symptomatology of Takayasu’s arteritis and clinical results of step therapy with high doses of methylprednisolone, bolus administration of cyclophosphan followed by long-term oral cyclophosphan administration were analyzed. In the course of treatment, the patient underwent carotid angioplasty. Due to the unstable effect of the therapy, the patient was administered intravenous infusions of IL-6 blocker tocilizumab, which led to remission of the disease. The presented clinical case demonstrates the important diagnostic value of vascular imaging methods in early diagnosis and control of the disease course and the effectiveness of IL-6 inhibitors in achieving and maintaining remission of Takayasu’s arteritis.
Takayasu病(非特异性主动脉炎)是主动脉及其主要分支的肉芽肿性炎症,病程进行性发展为严重的缺血性疾病。高须动脉炎的诊断困难,各种病因性抗炎治疗方法的可行性,使得研究一个临床病例更为方便。本文分析1例高松动脉炎患者的临床表现,该病表现为全身炎症综合征,双侧颈动脉狭窄病变表现为严重脑缺血。患者自2017年9月起留院观察至今,治疗中采用了多种药物治疗和手术矫正方法。分析高须动脉炎的临床症状动态及采用大剂量甲基强的松龙、大剂量环磷酰胺后长期口服环磷酰胺逐步治疗的临床效果。在治疗过程中,患者接受了颈动脉成形术。由于治疗效果不稳定,患者静脉输注IL-6阻滞剂tocilizumab,导致疾病缓解。本临床病例显示血管成像方法在早期诊断和控制病程中的重要诊断价值,以及IL-6抑制剂在实现和维持高须动脉炎缓解中的有效性。
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引用次数: 0
Zinner Syndrome: Case Series and Literature Rewiev 津纳综合征:病例系列与文献回顾
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-392-400
D. A. Kushnerova, V. S. Tikhonova, I. A. Blokhin, A. P. Gonchar
Zinner syndrome is a rare congenital anomaly of the mesonephric duct, characterized by a triad of symptoms: seminal vesicle cysts, ipsilateral renal agenesis and ejaculatory duct obstruction. This leads to a severe complication — oligozoospermia/azospermia, which can subsequently cause infertility. The widespread use of medical imaging increases the probability of incidental detection. Namely, magnetic resonance imaging (MRI) is the imaging modality of choice for making a diagnosis. Study purpose: to optimize patient routing in Zinner syndrome, as well as to minimize the risk of misdiagnosis or missed pathology, by providing strong and weak points for each modality. Materials and methods: we present two clinical cases of Zinner syndrome. The first one is a complicated course in a 25-year-old patient, and the second one is accidentally discovered in a 27-year-old patient. The patients underwent a comprehensive diagnostic panel, including: ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI). The results obtained were analyzed in the light of available literature data. Results: in most cases, Zinner syndrome is an incidental finding during. The diagnosis based on these imaging methods and the correct patient routing allowed us to make a timely and correct diagnosis, followed by decisions on further treatment tactics. Conclusion: Zinner syndrome is a rare disease and is often diagnosed based on imaging findings only. A radiologist and clinician need to know about the diagnostic criteria for this syndrome in order to successfully diagnose and determine the optimal treatment tactics.
津纳综合征是一种罕见的先天性肾间管异常,其特征是三种症状:精囊囊肿、同侧肾发育不全和射精管阻塞。这导致严重的并发症-少精子症/无精子症,随后可能导致不孕。医学成像的广泛应用增加了意外检测的可能性。也就是说,磁共振成像(MRI)是诊断的首选成像方式。研究目的:通过提供每种模式的优缺点,优化Zinner综合征的患者路径,最大限度地降低误诊或遗漏病理的风险。材料和方法:我们报告了两例Zinner综合征的临床病例。第一个是一个复杂的过程,发生在一个25岁的病人身上,第二个是在一个27岁的病人身上偶然发现的。患者接受了全面的诊断,包括:超声(US),计算机断层扫描(CT),磁共振成像(MRI)。根据现有文献资料对所得结果进行分析。结果:在大多数情况下,津纳综合征是偶然发现的。基于这些影像学方法的诊断和正确的患者路径使我们能够及时做出正确的诊断,然后决定进一步的治疗策略。结论:津纳综合征是一种罕见的疾病,通常仅根据影像学表现诊断。放射科医生和临床医生需要了解该综合征的诊断标准,以便成功诊断并确定最佳治疗策略。
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引用次数: 0
Castleman’s Disease. Association with System Scleroderma Castleman病。与系统性硬皮病有关
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-385-391
A. V. Yagoda, P. V. Koroy, D. P. Kharchenko, E. V. Bondarenko
The article presents an observation of a rare benign lymphoproliferative disease — Castleman’s disease, with pronounced systemic symptoms. The clinical case is of interest not only for the rarity of pathology, but also for the peculiarities of clinical manifestations, including paraneoplastic pseudosclerodermic clinical and immunological syndrome, which was not previously described in the context of Castleman’s disease, Raynaud’s syndrome, severe pulmonary hypertension and a suspected (not proven morphologically) variant of extranodal lesion with its previously also notobserved localization in the sigmoid colon wall.
本文介绍了一种罕见的良性淋巴细胞增生性疾病- Castleman病,具有明显的全身症状。该病例的临床意义不仅在于其罕见的病理表现,还在于其临床表现的特殊性,包括副肿瘤性假性硬皮临床和免疫综合征,这在Castleman病、雷诺综合征、严重肺动脉高压和一种疑似(未证实的)结外病变变体(以前也未观察到其位于乙状结肠壁)的背景下未被描述。
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引用次数: 0
Type 2 Myocardial Infarction on the Background of Coronary Vasospasm and Invasive Tactics of Its Diagnosis and Treatment 冠脉血管痉挛背景下的2型心肌梗死及其有创诊疗策略
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-352-359
D. Yu. Gamayunov, A. N. Kalyagin, N. M. Balabina, A. V. Sinkov, E. S. Chujko, E. R. Kiseleva, K. B. Gajnutdinov, A. V. Sorzheev, E. O. Bykov
Currently, type 2 myocardial infarction is a rather significant problem, both in terms of diagnosis and treatment. Myocardial infarction without obstructive coronary artery damage occurs in 5-10 % of patients with a myocardial infarction. Optimal strategies for the diagnosis and treatment of patients with myocardial damage associated with non-thrombotic mechanisms have not yet been determined. The article describes a clinical observation of type 2 myocardial infarction on the background of vasospasm, as well as diagnostic and therapeutic tactics in this clinical situation. The main provisions: the patient was 22 years old in the cardiology department due to the pain syndrome behind the sternum for the first time in his life and an increase in body temperature to 37.5 C. From anamnesis: active bodybuilding, taking testosterone in injectable form. The electrocardiogram revealed changes in the type of transmural myocardial ischemia without the dynamics characteristic of myocardial infarction. Troponin I (quantitative test) — 2.1 ng/ml at laboratory reference values of 0.010-0.023 ng/ml. A diagnostic search was conducted for myocardial infarction and acute pericarditis. For the purpose of differential diagnosis, coronary angiography was performed, during which dynamic stenosis of the posterior descending artery was revealed. The decision to stent the vessel was not made. Echocardiography revealed areas of local contractility disorders. The data of the examination showed in favor of myocardial infarction without coronary artery obstruction (type 2). Taking into account the absence of occlusive-stenotic lesions of the coronary arteries, the presence of vasospasm, 1 platelet aggregation inhibitor, medium-dose statins, isosorbide dinitrate, calcium channel blocker, angiotensin-converting enzyme inhibitor was prescribed. Conclusion. Invasive tactics made it more likely to diagnose type 2 myocardial infarction and prescribe the most optimal drug therapy.
目前,无论是在诊断还是治疗方面,2型心肌梗死都是一个相当重要的问题。无阻塞性冠状动脉损伤的心肌梗死发生在心肌梗死患者的5- 10%。诊断和治疗与非血栓形成机制相关的心肌损伤患者的最佳策略尚未确定。本文介绍了以血管痉挛为背景的2型心肌梗死的临床观察,以及在这种临床情况下的诊断和治疗策略。主要规定:患者22岁,首次出现胸骨后疼痛综合征,体温升高至37.5℃,在心内科就诊。从记忆开始:积极健身,注射睾酮。心电图显示跨壁心肌缺血类型改变,无心肌梗死的动力学特征。肌钙蛋白I(定量试验)- 2.1 ng/ml,实验室参考值为0.010-0.023 ng/ml。对心肌梗死和急性心包炎进行了诊断搜索。为鉴别诊断,行冠状动脉造影,造影显示后降支动态狭窄。没有做出血管内支架的决定。超声心动图显示局部收缩性障碍。检查数据显示有利于心肌梗死,无冠状动脉阻塞(2型)。考虑到冠状动脉没有闭塞狭窄病变,存在血管痉挛,处方1血小板聚集抑制剂,中剂量他汀类药物,硝酸异山梨酯,钙通道阻滞剂,血管紧张素转换酶抑制剂。结论。侵入性策略更容易诊断出2型心肌梗死,并开出最佳的药物治疗方案。
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引用次数: 1
Multidisciplinary Approach to the Management of a Patient with Right-Sided Infective Endocarditis on Maintenance Hemodialysis 1例右侧感染性心内膜炎维持性血液透析患者的多学科治疗
Q4 Medicine Pub Date : 2023-10-23 DOI: 10.20514/2226-6704-2023-13-5-371-376
E. Yu. Ponomareva, N. A. Kosheleva, D. S. Sedov
Infective endocarditis in patients on maintenance hemodialysis occurs more often than in the population, manifests severe complications and is characterized by high mortality. The management of such patients requires the participation of several specialists. In the presented clinical observation, both typical characteristics of infective endocarditis on maintenance hemodialysis (staphylococcal etiology, association with vascular access devices, metabolic and hemodynamic risk factors) and peculiarities of a particular case (nature of nephropathy that led to maintenance hemodialysis, mechanism of right heart damage, which is uncommon for infective endocarditis on maintenance hemodialysis) are discussed in comparison with literature data. Interdisciplinary interaction of doctors of several specialties contributed to the choice of the right tactics and a favorable outcome of the disease.
维持性血液透析患者的感染性心内膜炎发生率高于人群,表现出严重的并发症,其特点是死亡率高。对这类病人的管理需要几位专家的参与。在本文的临床观察中,通过文献资料对比,讨论了维持性血液透析感染性心内膜炎的典型特征(葡萄球菌病因、与血管通路装置的关联、代谢和血流动力学危险因素)和特定病例的特殊性(导致维持性血液透析的肾病性质、维持性血液透析感染性心内膜炎不常见的右心损害机制)。多专业医生的跨学科互动有助于选择正确的策略和疾病的有利结果。
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引用次数: 0
Pathogenetic Mechanisms of the Relationship Between Osteoarthritis and Intestinal Dysbiosis 骨关节炎与肠道生态失调关系的发病机制
Q4 Medicine Pub Date : 2023-10-22 DOI: 10.20514/2226-6704-2023-13-5-325-334
G. V. Poryadin, A. N. Zakhvatov, I. A. Zakharkin, A. Yu. Parshina, A. A. Shaev
The potential association between dysbiosis of the gut microbiota and osteoarthritis is confirming by a growing number of studies. Given the social significance, the high prevalence of osteoarthritis, and evidences that quantitative and qualitative modification of the gut microbiota affects its progression, it seems important to clarify the underlying mechanisms of this association. Osteoarthritis is a multifactorial joint disease, which is based primarily on the progressive degeneration of articular cartilage. Impaired metabolic activity of chondrocytes, consisting in an imbalance in the extracellular matrix synthesis and degradation processes, causes the persistent release of molecular patterns associated with damage. This leads to the activation of a wide range of innate immune cells receptors and is the basis for the development of an inflammatory reaction in the joint. The involvement of macrophages in the synovial membrane and their activation leads to the production of pro-inflammatory cytokines, leading to the development of chronic low-grade inflammation in the joint, supporting the synthesis of catabolic enzymes by chondrocytes and escalating the cartilage degeneration. Microbial dysbiosis, defined as an adverse modification in the diversity, structure, or metabolic activity of the gut microbiota, is a hidden risk factor, accompanied by metabolic endotoxemia and, consequently, by increased production of pro-inflammatory cytokines, that support the systematic low-grade inflammation and pathophysiological mechanisms of osteoarthritis. It has been shown that dysbiosis of the gut microbiota intestinal takes part in the formation of other osteoarthritis risk factors for, for example, obesity and metabolic disorders. The identification of important interrelated pathophysiological mechanisms of these pathologies will contribute to the development of new pathogenetic treatment methods with their subsequent active introduction into clinical practice.
越来越多的研究证实了肠道菌群失调与骨关节炎之间的潜在联系。鉴于骨关节炎的社会意义、高患病率以及肠道微生物群定量和定性改变影响其进展的证据,阐明这种关联的潜在机制似乎很重要。骨关节炎是一种多因素的关节疾病,主要是基于关节软骨的进行性变性。软骨细胞的代谢活动受损,包括细胞外基质合成和降解过程的不平衡,导致与损伤相关的分子模式的持续释放。这导致广泛的先天免疫细胞受体的激活,是关节炎症反应发展的基础。巨噬细胞参与滑膜及其激活导致促炎细胞因子的产生,导致关节慢性低度炎症的发展,支持软骨细胞合成分解代谢酶,加剧软骨退变。微生物生态失调,被定义为肠道微生物群多样性、结构或代谢活性的不良改变,是一个潜在的危险因素,伴随着代谢性内毒素血症,因此,促炎细胞因子的产生增加,支持系统性低级别炎症和骨关节炎的病理生理机制。研究表明,肠道菌群失调参与了其他骨关节炎风险因素的形成,例如肥胖和代谢紊乱。识别这些病理的重要的相互关联的病理生理机制将有助于新的病理治疗方法的发展,并将其随后积极地引入临床实践。
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引用次数: 0
Changes in the Human Blood System in Patients with COVID-19 COVID-19患者血液系统的变化
Q4 Medicine Pub Date : 2023-10-22 DOI: 10.20514/2226-6704-2023-13-5-335-343
G. Sh. Safuanova, A. S. Konstantinova, N. R. Ryabchikova, D. R. Safuanova
As is known, the SARS-CoV-2 virus affects almost all human systems, organs and tissues, causing their damage to a greater or lesser extent. Follow-up of COVID-19 patients worldwide.indicates significant changes occurring in the hematopoiesis system and morphology of blood cells. This review is devoted to the analysis of literature data on the effect of the SARS-CoV-2 virus on changes in the indicators of the human blood system, which is important in the practical work of all healthcare professionals.
众所周知,SARS-CoV-2病毒几乎影响人体所有系统、器官和组织,对其造成或多或少的损害。对全球COVID-19患者的随访。表明造血系统和血细胞形态发生了重大变化。本文对SARS-CoV-2病毒对人体血液系统指标变化影响的文献资料进行分析,这在所有医护人员的实际工作中都很重要。
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引用次数: 0
Neurocognitive Disorders in COVID-19 Patients: Controversed and Unresolved Issues COVID-19患者的神经认知障碍:有争议和未解决的问题
Q4 Medicine Pub Date : 2023-10-22 DOI: 10.20514/2226-6704-2023-13-5-344-351
D. P. Kuznetsova, E. V. Efremova, V. V. Gnoevykh
New Coronavirus Infection (COVID-19) is an infectious disease caused by Severe Acute Respiratory Syndrome coronavirus-2 (SARS-CoV-2). Since 2019, a large number of studies on cognitive impairment in the background of COVID-19 have emerged, and “long COVID” is among them. A non-systematic review based on 2019-2022 studies provides information on the severity of cognitive changes in patients with COVID-19, diagnostic methods that can detect these cognitive impairment and long-term neuropsychiatric and cognitive outcomes that may pose a serious public health challenge.
新型冠状病毒感染(COVID-19)是一种由严重急性呼吸综合征冠状病毒-2 (SARS-CoV-2)引起的传染病。2019年以来,出现了大量关于新冠肺炎背景下认知障碍的研究,“长冠肺炎”就是其中之一。一项基于2019-2022年研究的非系统综述提供了有关COVID-19患者认知变化严重程度的信息,可以检测这些认知障碍的诊断方法以及可能构成严重公共卫生挑战的长期神经精神和认知结果。
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引用次数: 0
Medication-Overuse Headache (Review of Literature and Recommendations for Practice) 药物过度使用头痛(文献回顾及实践建议)
Q4 Medicine Pub Date : 2023-06-07 DOI: 10.20514/2226-6704-2023-13-3-175-180
N. L. Starikova
Medication-overuse headache (MOH) is a highly prevalent secondary headache, developing in patients with frequent and chronic cephalalgias due to excessive use of “acute” medications for headache, and significantly affecting patients’ quality of life. Treatment of MOH demands high compliance physician-patient, and the result is satisfactory not in all cases. For this reason, the prophylaxis of overuse of symptomatic medications for headaches is important. The review presents contemporary data on MOH, its treatment and prophylaxis.
药物过度使用头痛(MOH)是一种非常普遍的继发性头痛,发生在频繁和慢性头痛患者中,由于过度使用“急性”头痛药物,严重影响患者的生活质量。MOH的治疗对医患依从性要求较高,但并非所有病例的治疗效果都令人满意。因此,预防过度使用对症治疗头痛的药物是很重要的。该综述介绍了MOH及其治疗和预防的当代数据。
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引用次数: 0
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