Musculoskeletal and joint disorders

肌肉骨骼和关节疾病
  • 文章类型: Case Reports
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    我们介绍了一个病例,一个70多岁的男子使用多种药物(包括治疗缺血性心脏病和糖尿病,他出现了明显的横纹肌溶解症,并发急性肾损伤(AKI)和脑病,同时使用复合药物减肥。患者被送入重症监护病房,在血液透析和支持性护理后进展顺利。关于减肥药摄入的信息在入院时未知,仅在脑病消退后才发现。增加毒素相关横纹肌溶解症的可能性。该病例强调需要全面的临床病史和对减肥处方安全性的审查。包括包含可能与慢性药物产生不利影响的药物和补充剂组合的制剂,特别是在多药患者中。
    We present a case of a case of a man in his 70s on multiple medications (including treatment of ischemic heart disease and diabetes who developed significant rhabdomyolysis, complicated by acute kidney injury (AKI) and encephalopathy, while using a compounded medication for weight loss. The patient was admitted to the intensive care unit and progressed favourably after haemodialysis and supportive care. Information regarding the ingestion of weight-loss drugs was unknown at the time of admission and was only discovered after resolution of encephalopathy, raising the possibility of toxin-associated rhabdomyolysis. This case emphasises the need for a thorough clinical history and scrutiny of the safety of weight-loss prescriptions, including preparations that comprise a combination of drugs and supplements that may adversely interact with chronic medications, especially in polymedicated patients.
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  • 文章类型: Case Reports
    化脓性关节炎(SA)是关节的严重感染,可导致关节的不可逆破坏。我们报告了一名40多岁的女性患有镰状细胞特征(SCT)的复杂拔牙后,右髋部SA伴感染性肺栓塞的病例。患者出现严重的右大腿疼痛和左下颌疼痛。初步检查显示C反应蛋白升高和血培养阳性。术中关节抽吸后证实右髋关节SA。患者行右侧髋部清创术并长期静脉注射抗生素。患有镰状细胞病的成年人中SA的发病率很低:在法国和巴西的一项研究中为0.3%,在西非的SCT儿童中,血源性骨关节感染的发病率为10.3%。
    Septic arthritis (SA) is a serious infection of the joint which can lead to irreversible destruction of the joint.We report a case of right hip SA with septic pulmonary embolism following a complicated dental extraction in a woman in her early 40s with sickle cell trait (SCT).The patient presented with severe right thigh pain and left jaw pain.Initial workup revealed raised C reactive protein and positive blood cultures. Right hip joint SA was confirmed following intraoperative joint aspiration. The patient had right hip debridement with long-term intravenous antibiotics.The incidence of SA in adults with sickle cell disease is low: 0.3% in a study in France and Brazil and 10.3% incidence of haematogenous osteoarticular infection in children with SCT in West Africa.
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  • 文章类型: Case Reports
    矛盾的咬肌膨出是指在注射肉毒杆菌毒素后意外发生咬肌膨出或突出,与预期的肌肉弱化效果相反。由于浅表咬肌内部存在下腱结构,将其分为浅表和深腹部,因此毒素无法通过整个咬肌扩散。我们报告了一例40多岁的女性矛盾的咬肌膨出的临床病例,该女性在注射A型咬肌神经毒素后一周内出现了这种不良反应。我们还描述了用于治疗这种并发症的咬肌两部位注射技术。
    Paradoxical masseteric bulging refers to an unexpected occurrence of masseter muscle bulging or protrusion following the administration of botulinum toxin injections, contrary to the anticipated muscle weakening effect. It may occur secondary to toxin failing to diffuse through the entire masseter muscle due to the presence of an inferior tendon structure within the superficial masseter that divides it into a superficial and deep belly. We report a clinical case of paradoxical masseteric bulging in a female in her late 40s who developed this adverse effect within a week of her masseter botulinum neurotoxin type A injections. We also describe the masseter two-site injection technique for the management of this complication.
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  • 文章类型: Case Reports
    PYROXD1相关肌病是一种罕见的遗传形式的肢带型肌营养不良(LGMD),文献中仅报道了23例。PYROXD1在LGMD病理生理学中的确切作用尚不清楚。我们描述了两个兄弟,他们在过去的几十年中出现了上肢和下肢进行性无力的神经肌肉诊所。我们的案例强调了基因测序的最新进展如何彻底改变了LGMD的诊断分类过程,并为建立以前未分类的肌病的诊断提供了机会。我们还说明了如何增加采用肌肉MRI来识别疾病和目标肌肉活检可以为分类提供更好的质量和更多的信息样本。最后,我们的报告详细介绍了在这两个病例中发现的临床和组织病理学结果,为目前发表的关于PYROXD1相关肌病的有限信息增加了有价值的数据.
    PYROXD1-associated myopathy is a rare genetic form of limb-girdle muscular dystrophy (LGMD) with only 23 previous cases having been reported in the literature. The exact role of PYROXD1 in the pathophysiology of LGMD remains unclear. We describe two brothers who presented to the neuromuscular clinic with progressive weakness of their upper and lower limbs over the preceding decades. Our case highlights how recent advancements in genetic sequencing have revolutionised the diagnostic classification process for LGMD and provided opportunities to establish diagnoses for previously unclassified myopathies. We also illustrate how the increased adoption of muscle MRI to identify disease and target muscle biopsy can provide better quality and more informative samples for classification. Finally, our report details the clinical and histopathological findings found in both cases adding valuable data to the currently limited information published on PYROXD1-associated myopathy.
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  • 文章类型: Case Reports
    我们介绍了一个患有小关节多关节炎的老人的病例,伴有凹陷性水肿,涉及手和脚,临床怀疑缓解血清阴性对称性滑膜炎伴凹陷性水肿(RS3PE)。皮质类固醇治疗开始显着改善,但是随之而来的是不可接受的医术,如果没有疾病发作,就不可能逐渐减少。托珠单抗的试验允许疾病活动控制,皮质类固醇的缓慢断奶,最终,它的暂停。RS3PE是一种罕见的风湿病实体,最初被认为是类风湿关节炎(RA)的一种变体,具有风湿性多肌痛(PMR)的共同特征,和其他血清阴性脊柱关节病,从而暗示共同的病理生理背景。在RA患者中发现白细胞介素6(IL-6)水平升高,已显示反映PMR中的疾病活动,并且在RS3PE患者的血清和滑液中也有描述。Tocilizumab,抗IL-6受体抗体,在除RA以外的其他几种罕见的风湿病中显示出吉祥的结果。
    We present the case of an elderly man with a small-joint polyarthritis, accompanied by pitting oedema, involving hands and feet, raising clinical suspicion of remitting seronegative symmetrical synovitis with pitting oedema (RS3PE). Treatment with corticosteroids was initiated with significant improvement, but unacceptable iatrogeny ensued, and tapering was not possible without disease flare-up. A trial of tocilizumab allowed disease activity control, slow weaning of corticosteroids and, ultimately, its suspension. RS3PE is a rare rheumatological entity, initially thought to be a variant of rheumatoid arthritis (RA), with shared traits with polymyalgia rheumatica (PMR), and other seronegative spondyloarthropathies, thereby implying a shared pathophysiological background. Elevated levels of interleukin 6 (IL-6) are found in patients with RA, have shown to mirror disease activity in PMR and have also been described in the serum and synovial fluid of patients with RS3PE. Tocilizumab, an anti-IL-6 receptor antibody, shows auspicious results in several other rare rheumatic diseases other than RA.
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  • 文章类型: Case Reports
    特发性炎性肌病是以肌肉无力和肌肉内的组织学炎症为特征的神经肌肉病症。皮肌炎和多发性肌炎与多种癌症高度相关,特别是在抗转录中介因子-1(TIF1)-γ阳性肌炎中。我们介绍了一名具有FIGO1B1期宫颈鳞状细胞癌病史的患者的副肿瘤性皮肌炎病例。通过肌炎线性印迹分析检测到抗TIF1-γ自身抗体,PET-CT扫描显示右侧卵巢有异常。她接受了腹腔镜探查和PET阳性异常的病理分析,显示鳞状细胞癌的淋巴转移,与宫颈癌复发竞争。她开始放化疗作为治愈性肿瘤治疗。用大剂量皮质类固醇成功治疗了皮肌炎。医生应该意识到肌炎与恶性肿瘤风险增加之间的关联。
    Idiopathic inflammatory myopathies are neuromuscular disorders characterised by muscle weakness and histologically inflammation within the muscle. Dermatomyositis and polymyositis are highly associated with a wide range of cancers, especially in antitranscriptional intermediary factor-1 (TIF1)-gamma-positive myositis. We present a case of paraneoplastic dermatomyositis in a patient with a medical history of a FIGO stage 1B1 cervical squamous cell carcinoma. Anti-TIF1-gamma autoantibodies were detected by myositis lineblot analysis and a PET-CT scan revealed an abnormality positioned at the right ovary. She underwent laparoscopic exploration and pathological analysis of the PET-positive abnormality showed a lymphogenic metastasis of a squamous cell carcinoma, competitive with cervical carcinoma recurrence. She started chemoradiation as curative oncological treatment. The dermatomyositis was successfully treated with high-dose corticosteroids. Physicians should be aware of the association between myositis and the increased risk of malignancies.
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  • 文章类型: Case Reports
    肌原纤维肌病(MFM)是一组罕见的遗传性疾病,影响骨骼的功能,心脏和平滑肌。MFM表现出相当程度的临床异质性。在许多MFM实例中,肌肉无力是主要表现。某些MFM亚型通过呼吸和心脏损害来区分。关于MFM麻醉管理的信息很少,对产科麻醉的了解更少。据报道,一例MFM患者在联合神经轴麻醉下进行剖腹产的成功病例。病人没有出现并发症,功能恢复迅速。
    Myofibrillar myopathies (MFMs) are a group of rare genetic disorders that affect the function of skeletal, cardiac and smooth muscle.MFM exhibits a considerable degree of clinical heterogeneity. In numerous instances of MFM, muscle weakness is the predominant manifestation. Certain MFM subtypes are distinguished by respiratory and cardiac impairment.There is little information available about anaesthetic management in MFM, and even less is known about obstetric anaesthesia.A successful case of a patient with MFM undergoing a caesarean section under combined neuraxial anaesthesia is reported. The patient experienced no complications, and functional recovery was swift.
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  • 文章类型: Case Reports
    一名年轻男性出现间歇性高烧,不对称多关节炎和红斑,左侧胫骨上的嫩结节持续2个月。他有酒精依赖史,并有多次急性胰腺炎发作。随着多发性关节炎不断发展,对非甾体抗炎药和类固醇无反应,考虑了结节病的临时诊断。的确,他接受了硫唑嘌呤和利妥昔单抗治疗,但没有效果。皮肤结节活检显示皮下脂肪坏死,泡沫细胞,嗜酸性无定形物质的沉积和钙化。来自关节炎膝盖的滑液抽吸获得了脓性但令人惊讶的培养阴性物质,富含甘油三酯。腹部CT证实慢性胰腺炎。最终诊断为胰腺炎,提出了脂膜炎和多关节炎(PPP)综合征。他接受了外科胰腺导管引流,导致症状完全缓解。PPP综合征三联症的发生是由于胰腺酶渗入体循环并随后发生脂肪坏死。胰管手术引流常有疗效。
    A young male presented with intermittent high-grade fever, asymmetric polyarthritis and erythematous, tender nodules over left shin for 2 months duration. He had a history of alcohol dependence with multiple episodes of acute pancreatitis. With polyarthritis progressing relentlessly, unresponsive to non-steroidal anti-inflammatory drugs and steroids, a provisional diagnosis of sarcoidosis was considered. Indeed, he was treated with azathioprine and rituximab with no effect. Biopsy of the skin nodule revealed subcutaneous fat necrosis, foam cells, deposition of eosinophilic amorphous material and calcification. Synovial fluid aspiration from the arthritic knee obtained purulent but surprisingly culture-negative material, rich in triglycerides. Abdominal CT confirmed chronic pancreatitis. Final diagnosis of pancreatitis, panniculitis and polyarthritis (PPP) syndrome was made. He underwent surgical pancreatic ductal drainage leading to complete remission of symptoms. PPP syndrome triad occurs due to leakage of pancreatic enzymes into systemic circulation and subsequent fat necrosis. Surgical drainage of pancreatic duct is often curative.
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