{"title":"Dalle immunodeficienze alle malattie reumatologiche","authors":"Gabriella Giancane , Elisabetta Cortis , AnnaMaria Zicari , Paola Pansa , Marzia Duse","doi":"10.1016/j.arped.2011.09.001","DOIUrl":"10.1016/j.arped.2011.09.001","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2011.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85231498","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 : 2012-06-01DOI: 10.1016/j.arped.2012.08.001
Alberto Villani
{"title":"Il sogno di un pediatra","authors":"Alberto Villani","doi":"10.1016/j.arped.2012.08.001","DOIUrl":"10.1016/j.arped.2012.08.001","url":null,"abstract":"","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.08.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90679919","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 : 2012-06-01DOI: 10.1016/j.arped.2012.05.001
Stefania Norbedo , Salvatore Renna
{"title":"Adrenalina e bronchiolite:Ancora stand by o finalmente partenza?","authors":"Stefania Norbedo , Salvatore Renna","doi":"10.1016/j.arped.2012.05.001","DOIUrl":"10.1016/j.arped.2012.05.001","url":null,"abstract":"","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.05.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75785616","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}
{"title":"Sindrome di DiGeorge: il caso di Laura","authors":"Silvia Ricci, Jessica Iacopelli, Francesca Lippi, Clementina Canessa, Chiara Azzari","doi":"10.1016/j.arped.2012.08.002","DOIUrl":"10.1016/j.arped.2012.08.002","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.08.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91112260","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}
{"title":"La sindrome di Rubistein-Taybi","authors":"Chiara Fossati , Donatella Milani , Angelo Selicorni","doi":"10.1016/j.arped.2012.08.003","DOIUrl":"10.1016/j.arped.2012.08.003","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.08.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88647172","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 : 2012-04-01DOI: 10.1016/j.arped.2012.04.002
Francesco Velardi
{"title":"Le deformazioni posizionali del cranio. Parte II: storia naturale, prevenzione e terapia","authors":"Francesco Velardi","doi":"10.1016/j.arped.2012.04.002","DOIUrl":"10.1016/j.arped.2012.04.002","url":null,"abstract":"<div><p>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</p></div>","PeriodicalId":100120,"journal":{"name":"Area Pediatrica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.arped.2012.04.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74475643","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}