Marzo 2006 - Volume XXV - numero 3
Focus
UO di Fibrosi Cistica e Gastroenterologia Pediatrica, Università di Messina
Indirizzo per corrispondenza: giuseppe.magazzu@unime.it
Key words: Cystic fibrosis, Neonatal screening, Protocols of care, Primary care physician
The medical care of the patient with CF is ideally carried out with the joint efforts of the CF Center specialists and the patient’s primary care physician (PCP). The implementation of a nation-wide neonatal screening may represent a unique opportunity for an early care by both CF Centers and PCPs and for sharing protocols of care, which are summarized in the present article. CF Centers and scientific communities should understand the importance of improving PCPs knowledge and expertise on the needs of CF patients.
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Focus
Centro Fibrosi Cistica, Azienda Ospedaliera, Verona
Indirizzo per corrispondenza: carlo.castellani@azosp.vr.it
Key words: Cystic fibrosis, CFTR gene, Atypical cystic fibrosis, CFTR related disease
In recent years the ability to detect cystic fibrosis (CF) mutations has greatly expanded the clinical spectrum of the disease. In a rising number of patients an atypical, usually mild phenotype is found; in others a single clinical feature predominates. A diagnosis of CF is usually formulated following a positive sweat test, or the identification of disease-causing gene mutations, or the in vivo demonstration of the typical abnormalities in ion transport across the nasal or rectal epithelium. However, these same tests, although helpful, may prove inconclusive in individuals with such an unusual clinical presentation. Very little information is available about the possible long-term evolution of these non classical forms of disease.
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Focus
1Dipartimento di Scienze Biomediche, Università di Foggia
Indirizzo per corrispondenza: conese.massimo@hsr.it
Key words: Adenoassociate virus, Bone marrow, Cardiac glycosides, Curcumin, Nanoparticles, Pharmacogenomics, Stem cells
Although to date symptomatic therapies for cystic fibrosis (CF) - based on the eradication/ control of opportunistic infections and facilitation of mucus excretion - have rapidly and significantly increased patients survival, an aetiological therapy is still far from being available. There are several ongoing studies with the aim of correcting the underlying defect of the disease ranging from gene therapy to studies on molecules which will help the mutated CFRT gene to correctly express its protein or to make it work better. Stem cell therapy is a promising technique since it does not require the use of vectors, fundamental in gene therapy. Pharmacogenomics will help developing new drugs and identifying new efficacy indicators of these drugs.
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