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Sommario/Contents Sommario /高兴
Area Pediatrica
Pub Date : 2012-10-01 DOI: 10.1016/S1591-0075(12)00078-2
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引用次数: 0
Dalle immunodeficienze alle malattie reumatologiche 从免疫缺陷到风湿病
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/j.arped.2011.09.001
Gabriella Giancane , Elisabetta Cortis , AnnaMaria Zicari , Paola Pansa , Marzia Duse

A tutt’oggi non esiste un test diagnostico per le diverse malattie reumatologiche, ma gli esami di laboratorio possono fornire un valido supporto per la gestione della malattia e della terapia. Solo nel forte sospetto clinico sostenuto da solidi dati anamnestici vanno richiesti esami ematochimici, che altrimenti possono risultare fuor- vianti. È opportuno iniziare sempre con esami di primo livello (emo- cromo, indici di flogosi, enzimi muscolari ed esame delle urine) che, se correttamente interpretati, possono indicarci la necessità di ese- guire a scopo diagnostico esami di secondo livello (titolo anti-strep- tolisinico, complemento, ferritina e pannello auto-anticorpale). Tuttavia, in reumatologia, le indagini di laboratorio servono soprattutto per monitorare l’attività della malattia e gli effetti collaterali della terapia, consentendo una miglior definizione in termini prognostici e terapeutici.

目前还没有对各种风湿病进行诊断测试，但实验室测试可以为疾病管理和治疗提供宝贵的支持。只有在有可靠病史的强烈临床怀疑的情况下，才需要进行血液化学检查，否则可能会被排除在外。应始终从一级测试(emo- chrome、flogosis指数、肌肉酶和尿液检测)开始，如果解释正确，这些测试可能表明有必要进行二级诊断测试(抗血清、补品、铁素素和自抗体面板)。然而，在风湿病学中，实验室研究主要用于监测疾病的活动和治疗的副作用，从而使预测和治疗方面的定义更加明确。
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引用次数: 0
Il sogno di un pediatra 儿科医生的梦想
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/j.arped.2012.08.001
Alberto Villani
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引用次数: 0
Adrenalina e bronchiolite:Ancora stand by o finalmente partenza? 肾上腺素和支气管炎:还在待命还是最终离开?
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/j.arped.2012.05.001
Stefania Norbedo , Salvatore Renna
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引用次数: 0
Cover 封面
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/S1591-0075(12)00050-2
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引用次数: 0
Sommario/Contents Sommario /高兴
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/S1591-0075(12)00054-X
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引用次数: 0
Sindrome di DiGeorge: il caso di Laura 迪乔治综合症，劳拉的案子
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/j.arped.2012.08.002
Silvia Ricci, Jessica Iacopelli, Francesca Lippi, Clementina Canessa, Chiara Azzari

DiGeorge syndrome represents one of the most frequent primary im- munodeficiencies. The responsible mutation is a deletion of chromo- some 22. The clinical phenotype is variable, but it can be characterized by common pathological tracts, like facial dysmorphia, thymic hypo/aplasia, hypoparathyroidism, cardiovascular anomalies and cleft defects. During growth language delay and behaviour problems have frequently been described in patients with DiGeorge syndrome. The clinical suspect has to be confirmed by genetic analysis. The most effective medical intervention to improve the quality of life of these patients is represented by early diagnosis and multidisciplinary follow up. Laura's case is the remarkable example of such clinical check.

迪乔治综合征是最常见的原发性免疫缺陷之一。导致突变的是22号染色体的缺失。临床表型多变，但以常见病理束为特征，如面部畸形、胸腺功能减退/发育不全、甲状旁腺功能减退、心血管异常、唇裂缺损等。在成长过程中，语言迟缓和行为问题经常被描述为迪乔治综合征患者。临床疑似病例需经基因分析确认。早期诊断和多学科随访是改善这些患者生活质量的最有效的医疗干预。劳拉的病例就是这种临床检查的典型例子。
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引用次数: 0
La sindrome di Rubistein-Taybi
Area Pediatrica
Pub Date : 2012-06-01 DOI: 10.1016/j.arped.2012.08.003
Chiara Fossati , Donatella Milani , Angelo Selicorni

Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.

鲁比斯坦-泰比综合征(Rubistein-Taybi syndrome, RSTS)是一种罕见的以生长和精神运动迟缓为特征的多发性先天性异常综合征，主要以临床诊断为主。除了典型的面部特征外，这种综合征的特征是拇指和大脚趾的形状，通常是宽的和分叉的。智力迟钝通常是中度的。出生时的发病率约为十万分之一。约60%的患者可通过实验室检查获得诊断确认。安排儿科随访是强制性的。
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引用次数: 0
Le deformazioni posizionali del cranio. Parte II: storia naturale, prevenzione e terapia 头骨的姿势变形。第二部分:自然历史、预防和治疗
Area Pediatrica
Pub Date : 2012-04-01 DOI: 10.1016/j.arped.2012.04.002
Francesco Velardi

Neonates presenting with reduced neck motility and side posture preference are more prone to developing positional head molding. Their early recognition and assignment to immediate prevention protocols may halt the progression of the cranial deformity, normalize the misshapen head shape or, at least, reduce the persisting evidence of cosmetic anomaly in the adult age. The Family Pediatrician should inform the parents of the neonate on the natural history of the condition, on the absence of cognitive or medical implications, on the cosmetic results of an early orthotic treatment

以颈部活动度降低和侧身姿势偏好为表现的新生儿更容易发生体位性头成型。他们的早期识别和立即预防方案的分配可能会阻止颅骨畸形的进展，使畸形的头部形状正常化，或至少，减少在成年期持续存在的美容异常的证据。家庭儿科医生应告知新生儿的父母有关病情的自然史，关于缺乏认知或医学影响，关于早期矫形治疗的美容结果
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引用次数: 0
Capacità globale di rilevamento delle malattie infettive emergenti 全球检测新出现传染病的能力
Area Pediatrica
Pub Date : 2012-04-01 DOI: 10.1016/j.arped.2012.04.005
E.H. Chan, T.F. Brewer, L.C. Madoff, M.P. Pollack, A.L. Sonricker, M. Keller, C.C. Freifeld, M. Blench, A. Mawudeku, J.S. Brownstein
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引用次数: 0
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