脉管异常类疾病的分类及相关临床问题

脉管异常类疾病是一组以血管和淋巴管病变为主的疾病,多发生于儿童。不同类型脉管异常类疾病具有各自的病理生理及临床特征。准确合适的分类有利于临床决策和预后的改善。目前对脉管异常类疾病的发病机制尚不十分清楚,新的分类越来越细,治疗理念和技术也不断更新,而临床诊疗上仍然存在治疗时机、指征、治疗方法等不明确或有争议的现象,亟待进一步完善与规范。本文旨在阐述脉管异常类疾病的分类及相关临床问题。     

小儿功能性便秘罗马Ⅳ标准的外科学解读

胃肠道疾病可分为三类:器质性疾病、动力型疾病及功能性疾病.器质性疾病的诊断依赖于病理学,如胃肠道肿瘤.动力型疾病的诊断依赖于动力改变,如假性肠梗阻.功能性胃肠道疾病(functional gastrointestinal disorders,FGIDs)是一类主要通过症状进行诊断的疾病,而这些症状可与动力紊乱、内脏高敏感性、黏膜和免疫功能失调、肠道菌群失衡及中枢神经系统调节功能异常等相关,如功能性便秘、肠易激综合征等[1].     

遗传性骨髓衰竭综合征研究进展

遗传性骨髓衰竭综合征(IBMFs)属于骨髓造血障碍性疾病,后者还包括获得性再生障碍性贫血和骨髓增生异常综合征,是一组由多种原因引起的造血干细胞功能异常性疾病.IBMPS常见的表现为多种先天畸形、造血障碍和易发肿瘤,在各年龄阶段均可发病.因IBMFS的诊断手段不够完善以及临床表现的多样性和发病率低等原因,可能导致误诊、漏诊.近年来发达国家和地区对该类疾病的诊断、发病机制的研究和处理都有很大进展,该文就此作一综述.     

线粒体疾病研究进展

线粒体疾病主要是指由于遗传缺陷引起线粒体结构及功能异常,导致的多系统异质性疾病,以中枢神经系统与肌肉组织受到侵犯为主.线粒体疾病研究在人类的遗传学中占有重要地位.迄今为止,线粒体疾病及相关基因突变的研究已成为目前遗传学研究的重点.该文重点介绍线粒体疾病流行病学、分子生物学及遗传学、临床表现和诊断要点.     

儿童先天性肺囊性疾病诊断和治疗进展

儿童先天性肺囊性疾病属临床少见肺部疾病,是肺组织胚胎发育异常所形成的畸形.根据其起源可以分为支气管源性肺囊肿、囊性腺瘤样畸形、先天性大叶性肺气肿和肺隔离症.该病临床表现无特异性,易与多种疾病相混淆,造成误诊.现对其主要发病机制、临床表现、诊断与鉴别诊断、治疗及干预措施进行阐述.     

儿童骨髓增生异常综合征/骨髓增殖性疾病的再认识

骨髓增生异常综合征(MDS)/骨髓增殖性疾病(MPD)是一组起源于造血干/祖细胞的异质性、克隆性疾病,兼具骨髓增生异常和慢性骨髓增殖性疾病的双重特点。此类疾病在儿科发病率较低,缺乏统一的诊断分类标准。因此临床工作中,常发生漏诊或误诊。本文根据近年国际上对     

第二十一届国际脉管异常性疾病学术会议纪要之普萘洛尔治疗婴幼儿型血管瘤篇

第21届国际脉管性异常疾病学术研讨会(21stInternational Workshop on Vascular Anomalies)于2016年4月26日至29日在阿根廷首都布宜诺斯艾利斯举行.国际脉管性疾病研究学会(International Society for the Study of Vascular Anomalies,简称ISSVA)于1992年,在匈牙利首都布达佩斯(Budapest)成立.ISSVA是由一个血管瘤和先天性脉管畸形方面的医学专家组成的国际组织,其涉及的范围包括:皮肤科,介入放射科,血管外科,整形外科,儿童外科,耳鼻咽喉头颈外科,口腔颌面外科,以及遗传学、病理学等.ISSVA最初是1976年,Mulliken和Young在美国波士顿Boston发起成立国际脉管性疾病专题研究组(Workshop),随着与会者逐渐增多,每2年在欧洲或美国的城市举行1次会议,到目前已经举行了21届会议.此次大会首次在非欧美国家举行,由Steven J.Fishman教授出任大会主席,阿根廷地区荣誉主席Ana Giachetti教授主持大会.本次会议共收到论文400余篇,大会发言(Oral)97篇其中有12个疑难病例讨论,展板(Poster) 138篇,来自100多个国家和地区(主要以欧美为主)共600多名代表参加了会议.我国刘潜教授团队和林晓曦教授团队受邀参加此次会议并作大会发言,受到与会者一致好评.     

先天性肺囊性疾病52例

目的 探讨儿童先天性肺囊性疾病的诊断、手术治疗方法及预后.方法 回顾性分析2003年1月至2012年6月在复旦大学附属儿科医院住院手术治疗的先天性肺囊性疾病儿童52例.对患儿临床表现、病变部位、影像学、病理学、漏诊误诊、手术治疗方法和短期肺功能进行统计分析.结果 52例先天性肺囊性疾病患儿中,男33例,女19例;年龄1 d～159个月,中位数为3.67个月;新生儿5例.病种:支气管源性肺囊肿42例,肺隔离症6例,大叶性肺气肿3例,先天性囊性腺瘤样畸形1例.临床表现以肺部感染为主,其中61.5％的患儿首次肺部感染后确诊,21.1％的患儿在反复呼吸道感染后确诊,约17.3％的患儿无症状.病变部位以右下肺最多见,约占36.5％.影像学以多发气囊肿最多见,约占42.3％.病理结果均提示支气管源性.漏诊率为17.3％,误诊率为24.9％,其中支气管源性肺囊肿误诊率为19.2％.治疗以肺叶切除术为主,无死亡病例.结论 小儿先天性肺囊性疾病的术前诊断主要依靠影像学检查,临床表现有助于早期识别,术前易漏诊误诊,术后病理有助于确诊,手术疗效肯定,预后好.     

自身免疫性脑炎

自身免疫性脑炎是机体对神经元抗原成分的异常免疫反应所致的中枢神经系统炎症性疾病.典型的临床表现包括认知功能倒退,癫(痫)发作和行为障碍.在病因不清的快速进展性认知异常和行为障碍中,自身免疫性脑炎作为可治疗的疾病,可能占重要位置.该文简介了自身免疫性脑炎的最新进展,主要包括其临床特点、诊断和治疗原则.     

自身炎症性疾病与自身免疫性疾病

随着社会发展,因遗传或环境因素所致基因病变导致的自身免疫性疾病逐渐引起医学界的高度关注.如何正确认识单基因或多基因病变引起的免疫功能缺失或免疫功能紊乱(免疫失调)性疾病,清晰了解从纯粹自身炎症性疾病到纯粹自身免疫性疾病的免疫性疾病链以及对免疫性疾病链中疾病个体恰当地实施分类治疗,已成为风湿免疫科的重要课题.自身炎症性疾病是针对自身组织、器官的免疫性炎性疾病,固有免疫细胞异常反应是自身组织损伤的直接原因;自身免疫性疾病以识别自身/非己的适应性免疫耐受机制破坏为特征,适应性免疫细胞异常反应导致自身组织炎性损害.病变基因仅涉及固有免疫细胞异常反应,其所致称为纯粹自身炎症性疾病;如病变基因仅涉及适应性免疫细胞异常反应,其所致疾病称为纯粹自身免疫性疾病;如果兼具自身炎症性疾病-自身免疫性疾病双重病理特性,既为自身免疫性中间型疾病.有目的地寻找患病个体的自身炎症性和自身免疫性疾病特征,将有助于更准确地把握患者病情,合理、精细地制定靶向性明确的治疗方案.传统观念把全身型幼年特发性关节炎(So-JIA)归类于自身免疫性疾病,但近年研究发现So-JIA患者病变以自身炎症为特征,So-JIA病理环节中无自身抗体参与及组织相容性抗原相关性,炎性细胞因子TNF-α、IL-1β、IL-6、IL-18等在So-JIA具有突出致病作用.重新认识So-JIA多基因、异质性自身炎症性疾病特征,可以帮助临床制定靶向性更为明确的治疗方案.     

Specifics of histopathological and genetical diagnosis and classification of lymphomas in children and adolescents

Malignant lymphoma along with leukemias account for nearly half of all malignancies arising in childhood and adolescence. The correct tissue-based histopathological diagnosis of lymphomas results from a close interdisciplinary exchange between pediatric oncologists and hematopathologists. We describe here relevant features of lymphoma subtypes arising in the young age group, Burkitt lymphoma, precursor/lymphoblastic lymphomas, anaplastic large cell lymphoma and diffuse large B-cell lymphoma as well as primary mediastinal B-cell lymphoma and the rare pediatric follicular lymphomas. Special focus is put on specific diagnostic difficulties as well as new insights into biological features of pediatric lymphomas in comparison with their adult counterpart. In addition the relevance of newly defined lymphoma entities of the WHO-classification 2008, e.g. greyzone lymphomas, will be discussed for the young age group.     

Age-dependency of alpha- and beta-adrenoceptors on thrombocytes and lymphocytes of asthmatic and nonasthmatic children

Among the possible mechanisms which may cause wheezing or asthmatic episodes a genetically determined -adrenoceptor blockade and a hyperresponsiveness of -andrenoceptors has been postulated. Evidence to support this hypothesis stems from an increased bronchial sensitivity to -blockers, a reduced formation of cyclic AMP in response to -adrenergic stimulation and enhanced -adrenergic responses in asthmatic subjects. The recent development of techniques for measuring the specific, high-affinity binding of radiolabeled -and -adrenergic antagonists made it possible to study - and -adrenoceptors in vitro. Based upon the assumption that a change in the number and/or affinity of adrenergic receptors might be a general phenomenon, we have performed - and -receptor binding studies on lymphocytes and platelets from wheezing infants and asthmatic children as well as of infants, children, and adults not suffering from these diseases.Using ¹²⁵[I]-cyanopindolol (ICYP) and ³[H]-yohimbine (HYOH) as highly specific ligands for - and -adrenoceptors, the following results were obtained: (1) Lymphocytes and platelets from control subjects and asthamatics bound similar amounts of ICYP and HYOH and thus showed no differences either in the number or the affinity of - and -adrenoceptors. Lymphocytes and platelets of wheezing and nonwheezing infants also bound the same amounts of the radioligands. (2) In asthmatic children receiving 4×2 puffs salbutamol -adrenoceptor were down-regulated and this may mimic -adrenoceptor blockade. (3) When subjects were divided into four categories according to age (0–5, 5–10, 10–20 years, adults) the number of -adrenoceptor binding sites showed an age-dependent increase. The number and affinity of -adreneceptor binding sites on platelets was neither influenced by age nor disease.It is concluded that the - and -adrenoceptors of wheezing infants and asthmatic children at least on blood cells are normal. However the -adrenoceptors show an age-dependent maturation process, which may account for an unresponsiveness to -adrenoceptor agonists in wheezing infants.Supported by a grant from the Ministerium für Wissenschaft und Forschung, NRWPresented at the 19th Workshop for Pediatric Research, University of Göttingen, March 10–11, 1983     

小阴茎、小睾丸的诊断与治疗

小阴茎、小睾丸的病因复杂,临床诊断较为困难。下丘脑-垂体-性腺轴及雄激素合成和转化过程中任何一个环节出现异常,皆会影响阴茎和睾丸的发育。治疗应在明确诊断的基础上予以个体化方案。提倡重视小青春期内的早期诊断,以期早期治疗,使病变的危害降至最低。