Area PediatricaPub Date : 2012-02-01DOI: 10.1016/j.arped.2012.03.007
Chiara Azzari
{"title":"Lo screening neonatale delle immunodeficienze severe combinate","authors":"Chiara Azzari","doi":"10.1016/j.arped.2012.03.007","DOIUrl":"10.1016/j.arped.2012.03.007","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":"13 1","pages":"Pages 20-24"},"PeriodicalIF":0.0,"publicationDate":"2012-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.03.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76288305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Area PediatricaPub Date : 2012-02-01DOI: 10.1016/j.arped.2012.03.006
Francesco Velardi
{"title":"Le deformazioni posizionali del cranio Parte I: eziologia e diagnosi differenziale","authors":"Francesco Velardi","doi":"10.1016/j.arped.2012.03.006","DOIUrl":"10.1016/j.arped.2012.03.006","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":"13 1","pages":"Pages 5-19"},"PeriodicalIF":0.0,"publicationDate":"2012-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.03.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90817241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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