Search results for "Cystic Fibrosi"

The selective advantage of cystic fibrosis heterozygotes tested by aDNA analysis: A preliminary investigation

2000

Recently a heterozygote advantage was suggested to explain the high incidence (1:25 carrier individuals in Europeans) of the cystic fibrosis gene. This selective advantage was speculated to be due to a high resistance to chloride-secreting diarrhea, including cholera. Up to now the major efforts to test directly this hypothesis have been limited to animal models.

Current development of CFTR potentiators in the last decade

2020

Cystic fibrosis (CF) is a genetic disorder produced by the loss of function of CFTR, a main chloride channel involved in transepithelial salt and water transport. CFTR function can be rescued by small molecules called "potentiators" which increase gating activity of CFTR on epithelial surfaces. High throughput screening (HTS) assays allowed the identification of new chemical entities endowed with potentiator properties, further improved through medicinal chemistry optimization. In this review, the most relevant classes of CFTR potentiators developed in the last decade were explored, focusing on structure-activity relationships (SAR) of the different chemical entities, as a useful tool for t…

Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons

2020

Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool &ldquo

Resistin, adinonectin, leptin levels in adolescent with cystic fibrosis.

2008

Integrated computational and experimental approaches for the identification of new molecules with readthrough activity on premature termination codon…

2015

Drug delivery systems based on polymeric micro and nanoparticles for the treatment of cystic fibrosis

Anomalous origin of bronchial arteries in patients with cystic fibrosis: therapeutic implications for embolisation.

2006

Bronchial artery embolisation (BAE) is an accepted method of controlling haemoptysis in patients with cystic fibrosis. However, anomalous origin of the bronchial arteries, documented in anatomical and angiographic studies, makes the procedure more difficult and increases the number of recurrences. Clinical records and films from three patients affected by cystic fibrosis with haemoptysis, in which the origin of the bleeding vessels was considered anomalous, out of a total of seven patients who underwent BAE, were reviewed. In two patients the source of bleeding was identified from, respectively, the left and the right internal mammary artery and in one from the left thyrocervical trunk. All…

Effectiveness of Enteric-Coated Preparations on Nutritional Parameters in Cystic Fibrosis

1988

To evaluate the effectiveness of enteric-coated pancreatic enzyme supplements in comparison to conventional preparations of ingested enzyme on growth and nutritional parameters of patients with cystic fibrosis, we conducted a long-term study involving 40 patients. The data reproduced here were recorded after 6 months of therapy with powder-containing capsules or with enteric-coated products. Fat absorption was estimated by measurement of steatorrhoea with the steatocrit method. All parameters studied improved after enteric-coated pancreatic enzyme therapy, with a statistically significant increase in weight, cholesterol and haemoglobin values. Furthermore, the number of patients with positi…

Spanish Consensus on the Prevention and Treatment of Pseudomonas aeruginosa Bronchial Infections in Cystic Fibrosis Patients

2014

Pseudomonas aeruginosa is the main pathogen in bronchopulmonary infections in cystic fibrosis (CF) patients. It can only be eradicated at early infection stages while reduction of its bacterial load is the therapeutic goal during chronic infection or exacerbations. Neonatal screening and pharmacokinetic/pharmacodynamic knowledge has modified the management of CF-patients. A culture based microbiological follow-up should be performed in patients with no infection with P. aeruginosa. At initial infection, inhaled colistin (0,5-2 MU/tid), tobramycin (300 mg/bid) or aztreonam (75 mg/tid) with or without oral ciprofloxacin (15-20 mg/kg/bid, 2-3 weeks) are recommended. In chronic infections, trea…

Lateral thoracic artery embolization in cystic fibrosis. A case report

2002

We report the embolization of an aberrant origin of haemoptysis - from the internal branch of the lateral thoracic artery - in a patient affected by cystic fibrosis. The technical implications for embolotheraphy in case of an aberrant origin of a haemorrhage are emphasized. Many different systemic arteries may contribute to the blood supply of the lung and many connections may exist between the systemic, bronchial and pulmonary circulations. The presence of non-bronchial systemic arteries supply should be investigated when inconclusive findings are seen during bronchial artery embolization for haemoptysis.