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Lo screening neonatale delle immunodeficienze severe combinate 新生儿对严重组合免疫缺陷的筛查
Area Pediatrica
Pub Date : 2012-02-01 DOI: 10.1016/j.arped.2012.03.007
Chiara Azzari

Severe combined immunodeficiency (SCID) is a group of letal rare disease, which can be cured when diagnosed very early in the life. Different methods have been suggested for neonatal screening of SCID, from white blood cell count (inexpensive, but associated to low sensitivity and specificity), to IL7 plasma level evaluation (normally increased in SCID patients). Recently quantitative analysis of TRECs (by-product of VDJ recombination) has been suggested as the candidate method for neonatal screening. TRECs analysis has good sensitivity and specificity but it still has a high cost per patient. Tandem mass spectrometry is absolutely not-expensive but its use is, at present, limited to few variants of SCID.

严重联合免疫缺陷症(SCID)是一组罕见的致命性疾病，在生命早期得到诊断是可以治愈的。新生儿SCID筛查的不同方法已被提出，从白细胞计数(便宜，但与低敏感性和特异性相关)到il - 7血浆水平评估(SCID患者通常增加)。最近，定量分析TRECs (VDJ重组的副产物)已被建议作为新生儿筛查的候选方法。TRECs分析具有良好的敏感性和特异性，但人均成本较高。串联质谱法绝对不昂贵，但目前它的使用仅限于少数SCID的变体。
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引用次数: 0
Sommario / Contents
Area Pediatrica
Pub Date : 2012-02-01 DOI: 10.1016/S1591-0075(12)00009-5
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引用次数: 0
Cover 封面
Area Pediatrica
Pub Date : 2012-02-01 DOI: 10.1016/S1591-0075(12)00006-X
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引用次数: 0
Le deformazioni posizionali del cranio Parte I: eziologia e diagnosi differenziale 第一部分:病因和鉴别诊断
Area Pediatrica
Pub Date : 2012-02-01 DOI: 10.1016/j.arped.2012.03.006
Francesco Velardi

Mechanical molding due to compression of the growing skull during the pre-natal and/or neonatal period represents the most frequent cause of abnormal head shape. More rarely, an inborn genetic anomaly is responsible for early synostosis of cranial sutures and consequent morphologic anomalies. The early differential diagnosis between the two conditions is of upmost importance. The Family Pediatrician should recognize, as early as possible, the neonates with reduced neck motility and side posture preference, who are more prone to developing positional head molding, referring them to prevention protocols.

在产前和/或新生儿时期，由于颅骨生长受到挤压而形成的机械成型是导致头部形状异常的最常见原因。更罕见的是，先天性遗传异常导致早期颅缝合线闭锁和随之而来的形态异常。这两种疾病的早期鉴别诊断是至关重要的。家庭儿科医生应尽早认识到颈部活动减少和侧位倾向的新生儿，他们更容易发生体位头成型，并将其纳入预防方案。
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引用次数: 1
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