幼年皮肌炎诊治进展

幼年皮肌炎是一种以皮肤与肌肉组织病变为主的系统性自身免疫性疾病.该文总结了幼年皮肌炎的特异性临床表现、实验室诊断方法如MRI的应用价值,并对皮肌炎诊断标准提出了建议,介绍了近期应用于该病的免疫抑制剂与生物制剂的治疗进展.     

儿童风湿病诊断及治疗专家共识(三)

<正>幼年型皮肌炎1概述幼年特发性炎性肌病(juvenile idiopathic inflammatory myositis,JIIM)是一组少见、严重的儿童全身性自身免疫性疾病,主要包括幼年型皮肌炎(juvenile dermatomyositis,     

重症幼年皮肌炎的治疗进展

当前幼年皮肌炎的治疗以皮质激素及各种传统的免疫抑制剂(如甲氨蝶呤和硫唑嘌呤)为主.静脉注射免疫球蛋白是一种有效的短期治疗方法.环孢霉素和他克莫司对皮肌炎包括肺间质病变有效,而霉酚酸酯则对多发性肌炎和难治性皮肌炎有效.生物制剂的疗效有待于进一步验证.     

儿童系统性红斑狼疮细胞膜DNA抗体间接免疫荧光检测研究

目的 间接免疫荧光法检测抗细胞膜DNA抗体(抗mDNA抗体),探讨抗mDNA抗体对儿童系统性红斑狼疮(SLE)的诊断价值.并与儿童SLE诊断的金指标抗dsDNA抗体和抗Sm抗体进行比较.方法 选取44例SLE患儿,30例非SLE自身免疫性疾病患儿作为对照组(包括幼年类风湿关节炎9例、幼年脊柱关节病13例、幼年皮肌炎4例、幼年干燥综合征2例、幼年血管炎2例).分别以早幼粒白血病细胞系HL60细胞和马疫锥虫为底物,用间接免疫荧光法检测抗mDNA抗体及抗dsDNA抗体;联合应用免疫双扩散法和免疫印迹法检测抗Sm抗体.结果 44例SLE患儿中34例抗mDNA抗体阳性,30例疾病对照组中抗mDNA抗体阳性者6例.抗mDNA抗体对儿童SLE诊断的敏感度和特异度分别为77.27%和80.00%,阳性预测值和阴性预测值分别为85.00%和70.59%.抗mDNA抗体、抗dsDNA抗体和抗Sm抗体对儿童SLE诊断的ROC曲线下面积分别为0.786、0.716和0.557,以抗mDNA抗体最高.在抗dsDNA抗体和抗Sm抗体阴性的儿童SLE患者中抗mDNA抗体的阳性率分别为68.00%(17/25)、79.49%(31/39).结论 抗mDNA抗体是一种诊断儿童SLE新的自身抗体,具有较高的敏感度和特异度,有助于抗dsDNA抗体和抗Sm抗体阴性的儿童SLE的诊断,检测方便,技术成熟,有一定的临床应用价值.     

儿童炎症性肌病规范化治疗及预后

儿童炎症性肌病包括感染和免疫相关两类,前者以病毒性肌炎为主,后者以幼年皮肌炎常见。治疗方法根据病因、程度而不同,包括抗感染和免疫治疗,免疫治疗首选激素和免疫抑制剂。是否及时诊治、病损程度、是否合并心肺等器官受累是影响预后的因素。     

幼年型皮肌炎22例误诊分析

目的 了解幼年型皮肌炎的特点，提高对其认识，减少误诊和漏诊的发生。方法 统计22例幼年型皮肌炎外院误诊情况，分析原因，了解外院颖诊疾病的特点，加以鉴别。结果 42例中22例误诊，占52.4%，其中误诊过敏性皮炎占40.9%，急性肾炎占18.2%，系统性红斑狼疮占13.6%，感染后肌炎及生长痛各占9.1%，进行性肌营养不良及肺结核复发各占4.5%。结论 幼年型皮肌炎与成人皮肌炎不同，其早期症状多为皮肤损害，且常无特异性，易误诊。误诊原因在于对其认识不足，仅考虑常见病而忽视少见病。     

影像学检查诊断幼年皮肌炎临床价值

幼年皮肌炎是一种少见的自身免疫性疾病,早期明确诊断较为困难,临床症状不典型的患儿更是容易被误诊漏诊。诊断标准中的肌组织活检在实际诊疗过程中难以反复多次实施,因此临床医生需要依靠更多的检查方法去有效地早期诊断和评估疗效。影像学检查方法包括X线平片、高分辨CT、磁共振和肌组织超声已经在临床诊疗中被采用,体现出这些方法的简便易行、重复性强、无创性、高敏感性的优点,是否能取代肌组织活检尚须更多的经验和技术的进步。     

关于幼年类风湿性关节炎诊断与分型的建议

关于幼年类风湿性关节炎诊断与分型的建议（１９９５年１１月重庆）第四届全国儿科免疫学术会议期间结缔组织病小组就国内幼年类风湿性关节炎（ＪＲＡ）诊断与分型问题进行了专题讨论。最后一致同意以美国风湿病协会诊断标准为基础，对全身型及小关节Ⅱ型诊断加以部分改动...     

幼年皮肌炎慢作用药物治疗进展

幼年皮肌炎是儿童少见的风湿性疾病之一，常用的治疗方案是激素联合慢作用药物。由于发病率较低，缺少大样本随机对照试验研究，选择哪种慢作用药物、了解药物之间的转换以及确定疗程是比较困难的。该文对治疗幼年皮肌炎的常用慢作用药物及其作用机制、剂量、不良反应和适应证进行介绍，有助于临床医师对药物选择进行权衡。     

幼年型皮肌炎合并视神经脊髓炎谱系病一例

1例主诉为"皮疹5个月,双眼视力丧失3 d"的7岁患儿就诊于安徽省儿童医院神经内科,经磁共振成像、肌电图、血清肌酶谱、特发性炎性肌病相关自身抗体等检测,临床诊断为幼年型皮肌炎合并视神经脊髓炎谱系病。免疫性疾病合并视神经脊髓炎谱系病临床罕见。     

Newer therapies for cystic fibrosis

Cystic fibrosis (CF) is a chronic, progressive, genetic disease caused by flawed ion transport across epithelial membranes due to a genetic mutation. Most therapeutic efforts are centred on the main clinical manifestations of the disease: progressive destructive airway disease and pancreatic insufficiency. Most individuals with CF succumb to lung disease. The present-day therapeutic armamentarium includes agents that have been used for many decades, some of which have experienced transformations in their formulation or mode of administration thanks to the introduction of new manufacturing technologies. The development of new therapies involves new conceptual approaches, based on recent understanding of the disease. These therapies await proof of concept or clinical experimentation before being accepted as useful means to arrest the progression of the disease. In this article we will review therapeutic agents introduced into the clinical arsenal in the last 20 years, as well as experimental therapies under active investigation.     

Neuroblastoma

The identification of prognostic factors has greatly facilitated the rational choice of therapies in individual patients. Intensive chemotherapy, supplemented with radiation and surgery, has increased the remission rate of patients with widespread disease. The persistence of microscopic foci of malignant cells, however, remains a difficult hurdle for long-term disease-free survival. Highly toxic myeloablative therapies have had at most a modest impact on the overall cure rate of poor-risk patients. The use of novel biological therapies has provided new information on the mechanisms and potentials of immune-mediated tumor cytotoxicity. Timely clinical trials are needed to test their role in adjuvant treatment of occult microscopic disease.     

Breathing abnormalities in children with breathlessness

Dysfunctional breathing, hyperventilation and vocal cord dysfunction are frequently seen in children and adults. The prevalence is unknown. There are no standardized diagnostic criteria, and for now, effective exclusion of organic disease leaves the diagnosis of dysfunctional breathing. Therapy is mainly focussed on explanation of a benign condition and reassurance. Since dysfunctional breathing is a possible chronic condition, other therapies should be evaluated. In adults physiotherapy and breathing retraining appear beneficial. In childhood there is lack of evidence, and further research is necessary in order to optimise the outcome for children with dysfunctional breathing.     

Ventilatory strategies and adjunctive therapy in ARDS

Acute respiratory distress syndrome, a diagnosis based on physiologic and radiological criteria, occurs commonly in critical care setting. A major challenge in evaluating therapies that may improve survival in ARDS is that it is not a single disease entity but, rather, numerous different diseases that result in endothelial injury, where the most obvious manifestation is within the lung resulting in pulmonary oedema. It has been shown that poor ventilatory technique that is injurious to the lungs can propagate systemic inflammatory response and adversely affect the mortality. The current data suggest that high tidal volumes with high plateau pressures are deleterious and a strategy of ventilation with lower tidal volumes and lower plateau pressure is associated with lower mortality. There may be a role for recruitment manoeuvres as well. Other forms of respiratory support still require further research. The present understanding of optimal ventilatory management and other adjunctive therapies are reviewed.     

Advances in cystic fibrosis therapies

PURPOSE OF REVIEW: Over the past four decades, outcomes for patients with cystic fibrosis have improved dramatically. Major contributors to this improvement are a better understanding of disease pathogenesis and the systematic conduct of clinical trials evaluating new therapies designed to address these defects. This review describes recent developments in cystic fibrosis pulmonary therapies intended to treat various facets of the disease, including several treatments currently in development. RECENT FINDINGS: The mainstays of therapy for cystic fibrosis, such as nutritional support and mechanical mucus clearance, are now supplemented with aggressive antibiotic regimens intended to suppress or eradicate bacterial colonization, anti-inflammatory agents, and new approaches that improve mucociliary clearance. Therapies in development address the underlying ion transport defect found in cystic fibrosis airways and also include small-molecule agents that restore function to the mutant cystic fibrosis transmembrane conductance regulator. SUMMARY: Recent advances in therapies for cystic fibrosis offer the promise of improved outcomes and longer lives for patients with cystic fibrosis.     

Chronic abdominal pain of functional origin in children

Many future investigations into FGIDs are needed. These should focus on refining and validating the Rome diagnostic criteria, investigating possible biologic markers of these disorders, elucidating the role of the visceral afferent dysfunction or reflex motor responses that lead to symptoms, searching for new pathogenic factors (eg, corticotrophin-releasing factor), and evaluating therapies in prospective controlled trials. To tackle this challenging group of disorders successfully, there must be a broad collaboration among basic scientists, clinical investigators, physicians, psychologists, and practitioners of alternative and complementary medicine to develop and evaluate improved therapies. In the meantime, it is our duty as practitioners to keep updated and receptive to the needs of patients and families to reduce patient suffering, improve functioning, and control the costs to society.     

Multiple Sklerose (Enzephalomyelitis disseminata) des Kindes- und Jugendalters

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system of unknown etiology normally affecting young adults. Approximately 3–5% of MS patients have onset before the age of 16 (pediatric MS). Neurological deficiencies can occur in multifocal localisations. McDonald’s criteria include the dissemination in space and time of the disease activity. Symptoms include, for example, visual dysfunction and sensory or motor impairments. The most frequent clinical manifestation in the pediatric group is a relapsing-remitting disease course, with a milder course of disease and a lower rate of progression when compared to adult MS. Typical diagnostic findings are periventricular lesions of the white matter, oligoclonal bands in the cerebrospinal fluid and delayed evoked potentials. Relapses are treated with high-dose methylprednisolone. Prophylactic, immunomodulative therapies as suggested for adult MS patients are also used for children.     

Is your metabolism determined by (cell) fate?

The rise in the incidence of metabolic disease to become a major public health problem has been met with a substantial increase in research into both the clinical and basic science of metabolism. This work has revealed that the origins of metabolic diseases of adults can begin early in life. Furthermore, the age of onset of symptoms has been rapidly decreasing. Therefore, pediatricians should be critically involved in both the generation of new therapies as well as the institution of measures of disease prevention. This perspective examines how recent advances have improved our understanding of the development of metabolic diseases. A connection between glucocorticoids and the origins of metabolic disease is one enticing clue because of the clinical similarity between patients with glucocorticoid excess and those with metabolic disease. A unifying link was found by investigating the role of glucocorticoids on cell fate and differentiation of mesenchymal stem cells. We conclude that understanding the mechanisms by which glucocorticoids can modify how cell fate decisions are made holds promise for developing new therapies and preventative measures.