autoimmune disorder

自身免疫性疾病
  • 文章类型: Case Reports
    特发性血小板减少性紫癜(ITP)的特征是持续的低血小板计数,这可能导致严重出血,如胃炎和出血性中风。ITP中自身抗体的形成导致血小板破坏增加,然后阻碍造血。皮质类固醇和静脉注射免疫球蛋白是用于ITP的常见治疗方法,但是它们有明显的副作用。这是一例27岁女性ITP患者贫血的病例报告,血小板减少性,初次接受romiplostim治疗后卵巢囊肿破裂。病人从液体复苏中受益,输血,和皮质类固醇治疗;然后,病人的病情好转了。这个案例突出了与管理ITP相关的并发症,强调通过定期监测个性化治疗方案的重要性,以改善获益和风险的平衡,从而为患有ITP的慢性患者提供了综合治疗。
    Idiopathic thrombocytopenic purpura (ITP) is characterized by a persistently low platelet count, which can lead to serious bleeding such as gastritis and hemorrhagic stroke. The formation of auto-antibodies in ITP leads to increased destruction of platelets and then hampers hematopoiesis. Corticosteroids and intravenous immunoglobulin are among the common treatments used for ITP, but they have significant side effects. This is a case report of a 27-year-old woman with ITP who was found to be anemic, thrombocytopenic, and had a ruptured ovarian cyst after the initial romiplostim therapy. The patient benefited from fluid resuscitation, blood transfusion, and corticosteroid therapy; then, the patient\'s condition improved. This case highlights the complications associated with managing ITP, emphasizing the importance of personalizing therapy regimens through regular monitoring to improve the balance of benefits and risk, resulting in a comprehensive treatment for chronic patients suffering from ITP.
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  • 文章类型: Case Reports
    未分化结缔组织病(UCTD)由于其广泛的临床表现和缺乏特定的诊断标准而提出了重大的诊断挑战。我们介绍了一名22岁的女性,她最初表现出类似普通流感的症状,包括反复发烧,头痛,和体质症状。尽管最初的测试显示没有异常和自身免疫血清学阴性,她的症状持续存在,促使进一步调查。尽管随后的影像学研究没有得到明确的诊断,最初阴性结果后,她的炎症标志物升高和抗核抗体(ANA)测试逐渐阳性,提示潜在的自身免疫过程。经过六个月的持续症状,由风湿病学家开始的羟氯喹治疗使她的症状得到了显着缓解。这个案例凸显了诊断UCTD的挑战,特别是在年轻人中,症状可能在生命早期出现,没有明显的实验室异常,有时初始ANA为阴性,使其成为一个学习点,重新检查ANA水平,即使他们最初是负的。它强调了在症状不明和实验室检查结果不确定的患者中考虑UCTD的重要性。因为早期开始适当的治疗可以显着缓解症状并改善患者预后。
    Undifferentiated connective tissue disease (UCTD) poses a significant diagnostic challenge due to its wide array of clinical presentations and the absence of specific diagnostic criteria. We present the case of a 22-year-old female who initially exhibited symptoms resembling the common flu, including recurrent fever, headaches, and constitutional symptoms. Despite initial tests showing no abnormalities and negative autoimmune serology, her symptoms persisted, prompting further investigation. Although subsequent imaging studies yielded no definitive diagnosis, her elevated inflammatory markers and progressively positive antinuclear antibody (ANA) test after the initial negative result suggested an underlying autoimmune process. After six months of persistent symptoms, treatment with hydroxychloroquine initiated by a rheumatologist led to a remarkable resolution of her symptoms. This case highlights the challenge of diagnosing UCTD, particularly in young individuals, where symptoms may manifest early in life without clear laboratory abnormalities, sometimes with initial negative ANA, making it a learning point to recheck ANA levels even if they were initially negative. It underscores the importance of considering UCTD in patients with unexplained symptoms and inconclusive laboratory findings, as early initiation of appropriate treatment can significantly alleviate symptoms and improve patient outcomes.
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  • 文章类型: Case Reports
    自身免疫性疾病是多方面的疾病,它们与其他疾病共存会给诊断和管理带来独特的挑战。这里,我们报道了1例罕见的常染色体隐性遗传高IgE综合征(AR-HIES)患儿的β地中海贫血特征.AR-HIES是一种独特的免疫缺陷性疾病,其特征是严重的湿疹和反复的细菌和病毒感染,尤其影响鼻肺系统。这个案例突出了识别和管理罕见遗传病共现的重要性,因为它会影响治疗策略和家庭咨询。在具有β地中海贫血特征的儿童中,这种独特的AR-HIES病例强调了自身免疫性疾病的复杂性以及对具有多种临床表现的患者进行综合评估的必要性。
    Autoimmune diseases are multifaceted disorders, and their coexistence with other conditions can present unique challenges in diagnosis and management. Here, we report a rare case of autosomal recessive hyper-IgE syndrome (AR-HIES) in a child with beta thalassemia trait. AR-HIES is a distinct immunodeficiency disorder characterized by severe eczema and recurrent bacterial and viral infections, particularly affecting the sinopulmonary system. This case highlights the importance of recognizing and managing the co-occurrence of rare genetic conditions, as it can impact treatment strategies and familial counseling. This unique case of AR-HIES in a child with beta thalassemia trait underscores the complexity of autoimmune disorders and the need for comprehensive evaluation in patients presenting with multiple clinical manifestations.
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  • 文章类型: Case Reports
    Tolosa-Hunt综合征(THS),也被称为疼痛性眼肌麻痹,复发性眼肌麻痹,或眼肌麻痹综合征,被描述为与疼痛和受限的眼球运动相关的严重和单侧眶周头痛。由于海绵窦的肉芽肿性炎症,THS是一种罕见的疾病。虽然THS主要是特发性的,很少有与系统性红斑狼疮(SLE)相关的报道.本病例报告描述了作为SLE最初表现的THS的独特病例,多系统自身免疫性疾病.我们提供了一个54岁的女性患者的详细病例报告,该患者患有THS,具有THS的经典症状,包括单侧头痛,双重视觉,和眼眶疼痛。颅神经检查显示右动眼神经麻痹,无法加合物,提高,或者压抑她的右眼.详细的临床检查显示,她的右耳垂有斑秃和红斑性黄斑病变。除了红细胞沉降率(ESR)增加外,实验室检查均无明显变化。诊断性调查,包括MRI和血清学检查,进行了探索根本原因和系统参与。患者的MRI显示与THS一致的特征性发现,而血清学检测显示抗核抗体阳性,抗ds-DNA抗体,以及抗Smith抗体和低补体水平导致SLE的并发诊断。在出现时没有其他系统性狼疮表现。用大剂量皮质类固醇治疗导致眼部症状和头痛的快速改善。开始维持免疫抑制治疗以治疗SLE。患者在随访中没有复发。该病例报告强调THS是SLE的潜在初始表现。它强调了对非典型颅神经病变患者进行全面诊断评估的必要性,以考虑系统性自身免疫性疾病如SLE。早期诊断和管理对于改善这种交织的病理的结果至关重要。这种情况强调临床医生需要意识到THS作为SLE的最初表现的可能性。这个扩展的摘要提供了文章的全面概述,阐述了该病例在扩大对局部炎症综合征和系统性自身免疫性疾病如SLE之间重叠的临床理解方面的意义。
    Tolosa-Hunt syndrome (THS), also known as painful ophthalmoplegia, recurrent ophthalmoplegia, or ophthalmoplegia syndrome, is described as severe and unilateral peri-orbital headaches associated with painful and restricted eye movements. THS is an uncommon disorder due to granulomatous inflammation of the cavernous sinus. Although THS is primarily idiopathic, it has rarely been reported in association with systemic lupus erythematosus (SLE). This case report describes a unique case of THS presenting as the initial manifestation of SLE, a multi-system autoimmune disease. We present a detailed case report of a 54-year-old female patient who presented with THS with the classical symptoms of THS including unilateral headache, double vision, and orbital pain. A cranial nerve examination revealed right oculomotor nerve palsy with the inability to adduct, raise, or depress her right eye. A detailed clinical examination revealed alopecia areata and erythematous macular lesions on her right earlobe. Laboratory investigations were unremarkable except for an increased erythrocyte sedimentation rate (ESR). Diagnostic investigations, including MRI and serological tests, were conducted to explore the underlying causes and systemic involvement. The patient\'s MRI showed characteristic findings consistent with THS, while serological tests revealed positive antinuclear antibodies, anti-ds-DNA antibodies, and anti-Smith antibodies and low complement levels leading to a concurrent diagnosis of SLE. There were no other systemic manifestations of lupus at the time of presentation.  Treatment with high-dose corticosteroids led to rapid improvement in ocular symptoms and headaches. Maintenance immunosuppressive therapy was initiated for the management of SLE. The patient had no relapses on follow-up. This case report underscores THS as a potential initial manifestation of SLE. It highlights the need for comprehensive diagnostic evaluation in patients presenting with atypical cranial neuropathy to consider systemic autoimmune disorders like SLE. Early diagnosis and management are crucial for improving outcomes in such intertwined pathologies. This case emphasizes the need for clinicians to be aware of the possibility of THS as the initial manifestation of SLE. This extended abstract provides a comprehensive overview of the article, laying out the significance of the case in broadening the clinical understanding of the overlap between localized inflammatory syndromes and systemic autoimmune conditions like SLE.
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  • 文章类型: Journal Article
    类风湿性关节炎(RA)是一种慢性,以疼痛为特征的对称性炎症性自身免疫性疾病,肿胀的滑膜炎和关节糜烂,这可能会导致骨骼和软骨的损伤,并与进行性残疾有关。尽管扩大了治疗选择,一些患者仍然出现反应不足或无法忍受的不良反应。因此,RA的治疗选择仍然相当有限.AKT1酶对于设计各种人类疾病的药物至关重要,支持细胞功能,如增殖,生存,新陈代谢,正常和恶性细胞的血管生成。因此,AKT丝氨酸/苏氨酸激酶1被认为对于靶向旨在缓解RA机制的治疗策略至关重要。在这种情况下,针对AKT1的努力代表了开发新的抗关节炎药物的创新方法.这项研究的主要目的是使用诸如分子建模和动力学模拟(MDS)和基于形状的虚拟筛选(SBVS)等计算技术对AKT1抑制剂进行优先级排序。通过筛选源自ChemDiv和IMPPAT数据库的化合物库,采用组合的SBVS方法来预测针对AKT1的有效抑制剂。从SBVS结果来看,只有前三个化合物,ChemDiv_7266、ChemDiv_2796和ChemDiv_9468基于它们的高结合亲和力和有利的ADME/Tox性质进行稳定性分析。SBVS的研究结果表明,关键残基,包括Glu17,Gly37,Glu85和Arg273,显着有助于在AKT1的活性位点成功结合最高等级的前导化合物。这种见解有助于理解这些导线在抑制RA中的特定结合机制,促进更有效治疗剂的合理设计。
    Rheumatoid Arthritis (RA) is a chronic, symmetrical inflammatory autoimmune disorder characterized by painful, swollen synovitis and joint erosions, which can cause damage to bone and cartilage and be associated with progressive disability. Despite expanded treatment options, some patients still experience inadequate response or intolerable adverse effects. Consequently, the treatment options for RA remain quite limited. The enzyme AKT1 is crucial in designing drugs for various human diseases, supporting cellular functions like proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. Therefore, AKT serine/threonine kinase 1 is considered crucial for targeting therapeutic strategies aimed at mitigating RA mechanisms. In this context, directing efforts toward AKT1 represents an innovative approach to developing new anti-arthritis medications. The primary objective of this research is to prioritize AKT1 inhibitors using computational techniques such as molecular modeling and dynamics simulation (MDS) and shape-based virtual screening (SBVS). A combined SBVS approach was employed to predict potent inhibitors against AKT1 by screening a pool of compounds sourced from the ChemDiv and IMPPAT databases. From the SBVS results, only the top three compounds, ChemDiv_7266, ChemDiv_2796, and ChemDiv_9468, were subjected to stability analysis based on their high binding affinity and favorable ADME/Tox properties. The SBVS findings have revealed that critical residues, including Glu17, Gly37, Glu85, and Arg273, significantly contribute to the successful binding of the highest-ranked lead compounds at the active site of AKT1. This insight helps to understand the specific binding mechanism of these leads in inhibiting RA, facilitating the rational design of more effective therapeutic agents.
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  • 文章类型: Journal Article
    类风湿性关节炎(RA)是由软骨关节炎症引起的系统性自身免疫性疾病,破坏关节和软骨,导致滑膜炎和血管推拉的形成。RA的及时发现和有效管理对于减轻炎症性关节炎的后果至关重要。可能影响疾病进展。使用放射性标记的靶向载体的核医学为RA诊断和对治疗评估的反应提供了有希望的途径。放射性药物,如99m(99mTc),结合单光子发射计算机断层扫描(SPECT)结合CT(SPECT/CT),引入了一种更精细的诊断方法,通过精确的解剖定位提高准确性,代表了用于RA评估的混合分子成像的显着进步。这篇综合综述讨论了现有的研究,包括体外,在体内,和临床研究探讨99mTc放射性标记靶向载体SPECT显像在RA诊断中的应用。本综述的目的是强调该策略通过改善RA的早期发现和管理来提高患者预后的潜力。
    Rheumatoid arthritis (RA) is a systemic autoimmune disorder caused by inflammation of cartilaginous diarthrodial joints that destroys joints and cartilage, resulting in synovitis and pannus formation. Timely detection and effective management of RA are pivotal for mitigating inflammatory arthritis consequences, potentially influencing disease progression. Nuclear medicine using radiolabeled targeted vectors presents a promising avenue for RA diagnosis and response to treatment assessment. Radiopharmaceutical such as technetium-99m (99mTc), combined with single photon emission computed tomography (SPECT) combined with CT (SPECT/CT), introduces a more refined diagnostic approach, enhancing accuracy through precise anatomical localization, representing a notable advancement in hybrid molecular imaging for RA evaluation. This comprehensive review discusses existing research, encompassing in vitro, in vivo, and clinical studies to explore the application of 99mTc radiolabeled targeting vectors with SPECT imaging for RA diagnosis. The purpose of this review is to highlight the potential of this strategy to enhance patient outcomes by improving the early detection and management of RA.
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  • 文章类型: Case Reports
    重叠的自身免疫性疾病用于描述同一患者中多于一种自身免疫性疾病的共存。混合性结缔组织病(MCTD)和抗合成酶综合征(ASS)是表现为肺部受累的自身免疫性疾病,表现为持续性呼吸困难。同一患者中两种情况的共存极为罕见。我们在此报告一例44岁女性,在类风湿关节炎(抗环瓜氨酸肽(抗CCP)抗体)的背景下被诊断为具有ASS(抗Jo-1抗体)特征的MCTD,这表明用皮质类固醇和霉酚酸酯治疗后呼吸暂时改善。然而,霉酚酸酯完成后,患者的抗Jo-1抗体阴性,抗CCP抗体阳性.我们的案例强调需要识别具有复杂临床特征和表现的患者的重叠自身免疫状况,并立即应用全面的诊断方法和量身定制的治疗策略。早期诊断和积极治疗对于实现缓解和预防器官损伤至关重要。
    Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.
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  • 文章类型: Journal Article
    复杂区域疼痛综合征(CRPS)是一种慢性疼痛障碍,其特征是各种症状,包括与初始触发事件不成比例的疼痛,伴随着自主神经,感官,电机,和sudomotor紊乱。两种类型的CRPS的主要病理(I型,也被称为反射性交感神经营养不良,RSD;II型,也称为灼痛)的特征是异常性疼痛,水肿,皮肤颜色和温度的变化,营养不良,主要影响四肢。最近的研究开始揭示CRPS的复杂致病机制,特别是从自身免疫和神经免疫相互作用的角度来看。CRPS现在被认为是一种全身性疾病,源于炎症的复杂相互作用,免疫学,神经性,遗传,和心理因素。随着时间的推移,这些因素的相对贡献可能在患者之间变化,甚至在单个患者中变化。临床表现的主要机制包括外周和中枢致敏,交感神经失调,和体感加工的改变。增强对CRPS机制的了解对于开发有效的治疗干预措施至关重要。虽然我们对CRPS的机械理解仍然不完整,本文更新了最近的研究进展,并对病因进行了展望,发病机制,和CRPS的分子基础。
    Complex Regional Pain Syndrome (CRPS) is a chronic pain disorder characterized by a diverse array of symptoms, including pain that is disproportionate to the initial triggering event, accompanied by autonomic, sensory, motor, and sudomotor disturbances. The primary pathology of both types of CRPS (Type I, also known as reflex sympathetic dystrophy, RSD; Type II, also known as causalgia) is featured by allodynia, edema, changes in skin color and temperature, and dystrophy, predominantly affecting extremities. Recent studies started to unravel the complex pathogenic mechanisms of CRPS, particularly from an autoimmune and neuroimmune interaction perspective. CRPS is now recognized as a systemic disease that stems from a complex interplay of inflammatory, immunologic, neurogenic, genetic, and psychologic factors. The relative contributions of these factors may vary among patients and even within a single patient over time. Key mechanisms underlying clinical manifestations include peripheral and central sensitization, sympathetic dysregulation, and alterations in somatosensory processing. Enhanced understanding of the mechanisms of CRPS is crucial for the development of effective therapeutic interventions. While our mechanistic understanding of CRPS remains incomplete, this article updates recent research advancements and sheds light on the etiology, pathogenesis, and molecular underpinnings of CRPS.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    BACKGROUND: Vitiligo is a multifactorial disease characterized by the progressive loss of melanocytes. The worldwide prevalence ranges from 0.5% to 2%, and in children from 0% to 2.16%. The objective of this study was to determine the variables associated with progression of vitiligo.
    METHODS: A retrospective cohort was carried out where a random sample of records of pediatric patients with vitiligo from January 2016 to December 2020 was analyzed. The variables were studied: age at onset, sex, hereditary family history, personal history of thyroid diseases, time of evolution, classification, Köebner phenomena, mucosal vitiligo, halo nevus, premature graying and the presence of other dermatoses. The final state was classified as progression, stability, partial remission and complete remission.
    RESULTS: 574 children with vitiligo; 290 (50.5%) women, 284 (49.5%) men. Non-segmental vitiligo in 324 (56.4%), segmental vitiligo in 250 (43.6%). Mean age of onset 8.7 years (SD: 4.54). Median evolution time 6 months (25th percentile of 3 months and 75th percentile of 24 months). Family history 27 (4.70%). Thyroid disease 7 (1.21%). Evolution remained stable in 44 (7.7%), 68 (11.8%) had progression, 32 (5.6%) complete remission, 222 (38.7%) partial remission and 208 (36.2%) one consultation. Non-segmental vitiligo was obtained p < 0.028, younger age of onset p < 0.000, and none skin comorbidities p < 0.009.
    CONCLUSIONS: The variables that were associated with a more progression were non-segmental vitiligo, early ages at the onset of the disease, and not presenting with other skin diseases.
    UNASSIGNED: El vitiligo es una enfermedad multifactorial caracterizada por la pérdida de melanocitos. La prevalencia mundial oscila entre el 0.5% y el 2%, y en niños entre el 0% y el 2.16%. El objetivo de este estudio fue determinar las características clínicas asociadas a la progresión del vitiligo.
    UNASSIGNED: En una cohorte retrospectiva se analizó una muestra aleatoria de expedientes de pacientes con vitiligo de 0-18 años de edad, de enero de 2016 a diciembre de 2020. Se estudiaron la edad de inicio, el sexo, los antecedentes heredofamiliares, el antecedente personal de enfermedades tiroideas, el tiempo de evolución, la clasificación, el fenómeno de Köebner, el vitiligo en mucosas, el halo nevo, el encanecimiento prematuro y la relación con otras dermatosis. El estado final se clasificó en progresión, estabilidad, remisión parcial y remisión completa.
    RESULTS: 574 niños con vitiligo; 290 (50.5%) mujeres y 284 (49.5%) varones. Vitiligo no segmentario en 324 (56.4%), vitiligo segmentario en 250 (43.6%). Edad promedio de aparición 8.7 años (DE: 4.54). Mediana de tiempo de evolución 6 meses (percentil 25 de 3 meses y percentil 75 de 24 meses). Se encontraron antecedentes familiares en 27 (4.70%). Enfermedad tiroidea en 7 (1.21%). En la evolución permanecieron estables 44 (7.7%), progresaron 68 (11.8%), remisión completa 32 (5.6%), remisión parcial 222 (38.7%) y una consulta 208 (36.2%). Se obtuvo p < 0.028 en vitiligo no segmentario, p < 0.000 en menor edad de aparición y p < 0.009 en comorbilidad cutánea.
    CONCLUSIONS: Las variables que se asociaron a progresión fueron vitiligo no segmentario, edad temprana de inicio y no cursar con otras enfermedades cutáneas.
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