{"title":"Ipotonia e stipsi... Due segni per una diagnosi","authors":"Paolo Basilio, Luigi de Martino","doi":"10.53126/mebxxvid224","DOIUrl":"https://doi.org/10.53126/mebxxvid224","url":null,"abstract":"The case of a 3 months old infant presenting with hypotonia and stipsis and finally diagnosed with infant botulism is described.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"10 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138944301","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":"Un'insolita associazione: iperferritinemia e cataratta","authors":"C. Guardo, Pia Esposto, Matteo Chinello","doi":"10.53126/mebxxvid218","DOIUrl":"https://doi.org/10.53126/mebxxvid218","url":null,"abstract":"Hyperferritinemia associated to cataract (HFC) is a rare genetic condition. In this report, the case of a 3 year old boy diagnosed with HFC is presented.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"21 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138944493","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 del compasso aortomesenterico","authors":"D. Codrich, Edoardo Guida, J. Schleef","doi":"10.53126/mebxxvid220","DOIUrl":"https://doi.org/10.53126/mebxxvid220","url":null,"abstract":"Wilkie syndrome (aortic-mesenteric compass) was eventually diagnosed in a 15 year old girl presenting with bilious vomiting and gastric distention.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"33 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138945854","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":"E se fosse Lyme?","authors":"Francesca Terenzi","doi":"10.53126/mebxxvid223","DOIUrl":"https://doi.org/10.53126/mebxxvid223","url":null,"abstract":"The case of a 16 year old adolescent with knee monoarthritis lasting since 6 months is presented.The diagnosis of Lyme disease was finally made based on serological test.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"35 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138946780","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":"Tubercolosi vertebrale atipica: un caso clinico e revisione della letteratura","authors":"Chiara Del Bono, Rosa Francavilla, Chiara Ghizzi","doi":"10.53126/mebxxvin177","DOIUrl":"https://doi.org/10.53126/mebxxvin177","url":null,"abstract":"Background - Rates of Extrapulmonary Tuberculosis (TB) are higher in paediatric patients, especially in those from endemic areas. Bone TB is mostly located in the spine and in children may cause rapid bone destruction with severe deformity and neurological deficits. Case report - The paper reports the case of a 14-year-old male patient from Pakistan presenting with neurological symptoms and neuroradiological features suspicious for malignant tumour. After surgical removal of the mass, PCR test showed spinal TB. Tuberculin skin test (TST) and Interferon-Gamma Release Assays (IGRA) resulted negative. Discussion - False negative IGRA and TST test results can occur due to several factors, including immunodeficiency disorders. Some cases of spinal TB do not have typical radiological features, causing diagnostic delays or mistakes. Non-typical spinal TB features include: (1) involvement of the posterior elements of the spinal column; (2) skip lesions; (3) non-osseous TB involving spinal cord, cauda equina, and/or meninges. Conclusion - The differential diagnosis between spinal TB and malignancy might be challenging. Consequently, considering TB in children with neurological symptoms and/or vertebral neoformation, especially in patients coming from endemic areas, is recommended. TB diagnosis should not be excluded in case of non-typical radiological features, negative TST and IGRA or history of anti-TB vaccination. This approach should facilitate a timely diagnosis for appropriate treatment, avoiding neurological sequalae and delayed deformities.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"32 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226946","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":"Il gioco delle parti: bronchiolite e drepanocitosi","authors":"Benito P.E. Izzo, Caterina Radice, Valentina Pelliccia, Vanna Graziani, Federico Marchetti","doi":"10.53126/mebxxvin200","DOIUrl":"https://doi.org/10.53126/mebxxvin200","url":null,"abstract":"The case of a 2-month-old Senegalese infant with severe anaemia and RSV-related bronchiolitis is described. The Authors stress the role of common infections in leading to the diagnosis of sickle cell anaemia.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"31 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226948","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}
Claudia Cattapan, Alvise Guariento, Biagio Castaldi, Domenico Sirico, Fabio Scattolin, Massimo Padalino, Giovanni Di Salvo, Vladimiro Vida
{"title":"I vantaggi della correzione mininvasiva delle cardiopatie congenite riletti dopo 25 anni di esperienza","authors":"Claudia Cattapan, Alvise Guariento, Biagio Castaldi, Domenico Sirico, Fabio Scattolin, Massimo Padalino, Giovanni Di Salvo, Vladimiro Vida","doi":"10.53126/mebxxvin167","DOIUrl":"https://doi.org/10.53126/mebxxvin167","url":null,"abstract":"Background - For many years the treatment of congenital heart disease has been performed through median sternotomy. Recently, the dimensions of the cutaneous incision have been reduced to optimize functional recovery and improve the aesthetic result. However, there are still few experiences in this field. Objectives - The objective of the study is to describe the results of minimally invasive cardiac surgery at the Paediatric Cardiac Surgery Unit of the Hospital-University of Padua in over 25 years of experience. Materials and Methods - The study included all paediatric patients who underwent minimally invasive cardiac surgery (ministernotomy, right anterior minithoracotomy, or right lateral minithoracotomy) between January 1998 and December 2022. Intraoperative and early postoperative (during hospitalization) outcomes were investigated. Results - All patients (1,111) underwent a successful correction, without any need for conversion to median sternotomy. The median length of stay in the intensive care unit was 1 day (1-2 days), and in the hospital was 5 days (4-6 days). There were no in-hospital deaths and the rate of major complication was 3% (33/1,111 patients). Conclusions - The treatment of congenital heart disease with minimally invasive cardiac surgery when performed in experienced centres shows excellent clinical results without any additional risk compared to the traditional median sternotomy. For this reason, minimally invasive cardiac surgery has been the gold standard for the treatment of many congenital heart diseases for over 25 years.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"32 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226944","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}
Arianna Catelli, Mariaelena Cantarini, Antonio Giacomo Grasso
{"title":"Malformazioni linfovascolari? Sì-rolimus!","authors":"Arianna Catelli, Mariaelena Cantarini, Antonio Giacomo Grasso","doi":"10.53126/mebxxvin199","DOIUrl":"https://doi.org/10.53126/mebxxvin199","url":null,"abstract":"The case of a newborn with a complex lymphovascular malformation is presented. A somatic mutation of the PIK3CA gene was documented and the treatment with sirolimus was successfully administered.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"31 10","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226950","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":"È intelligente ma non si applica: quando è solo una questione di anticorpi","authors":"Salvatore Michele Carnazzo, Desirée Balconara, Francesco Caruso, Martino Ruggieri, Raffaele Falsaperla","doi":"10.53126/mebxxvin194","DOIUrl":"https://doi.org/10.53126/mebxxvin194","url":null,"abstract":"A diagnosis of steroid responsive encephalitis associated to autoimmune thyroiditis (Hashimoto encephalitis) was eventually made in a child with complex tics and decline of school performance.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226947","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":"Una fosfatasi alcalina non fa rachitismo","authors":"Andrea Ballaben","doi":"10.53126/mebxxvin198","DOIUrl":"https://doi.org/10.53126/mebxxvin198","url":null,"abstract":"The case of an 18-month-old asymptomatic girl with isolated high alkaline phosphatase blood levels is described. The diagnosis of benign, transient hyperphosphatasemia was finally made.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"31 11","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226949","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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