1,721,205 research outputs found
Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
No full textBackground: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the results of immunoreactive trypsinogen (IRT), molecular analysis and sweat test (ST) are discordant. A percentage of CF-SPID evolves to CF, but data on long-term monitoring are lacking. We describe the follow-up of all CF and CF-SPID identified between 2008 and 2019.
Methods: NBS was performed by IRT followed by molecular analysis and ST between 2008 and 2014; double IRT followed by molecular analysis and ST after 2014.
Results: NBS revealed 47 CF and 99 CF-SPID newborn, a ratio 1:2.1-the highest reported so far. This depends on the identification by gene sequencing of the second variant with undefined effect in 40 CF-SPID that otherwise would have been defined as carriers. Clinical complications and pulmonary infections occurred more frequently among CF patients than among CF-SPID. Two CF-SPID cases evolved to CF (at two years), while eight evolved to CFTR-related disorders (CFTR-RD), between one and eight years, with bronchiectasis (two), recurrent pneumonia (four, two with sinonasal complications), recurrent pancreatitis (two). No clinical, biochemical or imaging data predicted the evolution.
Conclusion: Gene sequencing within the NBS reveals a higher number of CF-SPID and we first describe an approach to early identify CFTR-RD, with relevant impact on their outcome
La fisiopatologia dell’infiammazione polmonare in corso di Fibrosi Cistica: implicazioni per nuove strategie terapeutiche.
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The ESPGHAN Cystic Fibrosis Working Group: defining DIOS and constipation in cystic fibrosis with a multicenter study on the incidence, characteristics, and treatment of DIOS.
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Aneuploidy of lymphocytes in familial polyposis coli.
No full textThe "in vitro" aneuploidy of peripheral lymphocytes in 13 members of a family affected by familial polyposis coli and in 5 patients affected by familial adenomatosis and belonging to other two families, was examined. The increase in aneuploidy of lymphocytes was significant only in 6 of the 13 members of the family (2 affected by polyposis and 4 not affected) and in all 5 patients with polyposis. Aneuploidy could be, for these reasons, a marker for polyposis
Can Continuous Subcutaneous Insulin Infusion Improve Health-Related Quality of Life in Patients with Shwachman-Bodian-Diamond Syndrome and Diabetes?
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