Cystic Fibrosis

At the path physiologic level, cystic fibrosis (CF) appears to reflect epithelial dysfunction in target organs. (Boucher and Beall) When it comes to scientific studies they have identified defects in the regulation of Tran epithelial ion movements across affected epithelia in this disease that may account for many of the clinical manifestations of this disorder. (Boucher and Beall) They are a possible number of reagents that currently may be available that can assist in these efforts. The reagents can be broken down into two categories: Compounds/ vectors for use primarily in in vitro systems to investigate the basis of cystic fibrosis epithelial defects at the cellular and biochemical level and Compounds/devices that can immediately increase the efficacy of treatment of cystic fibrosis. (Boucher and Beall)

Compounds/ vectors for use primarily in in vitro systems to investigate the basis of cystic fibrosis epithelial defects at the cellular and biochemical level. This topic can be broken down into different subjects. One the compounds affect cytoplasm membrane. Also agents can modulate intracellular calcium. Specific inhibitors of intracellular regulatory enzymes and compounds can affect the intracellular sulfate metabolism. Others are compounds can affect oxidoreductase activities of epithelial cells and vehicles that can deliver hydrophilic compounds to the intracellular compartment. Also the vectors that are transforming epithelial cells. (Boucher and Beall)

The agents the promise to improve the clinical care of CF patients can be broken down into just four different subjects. The improved antibacterial agents. The agents that prevent lung transplant rejection. When they improved anti-inflammatory agents. They also improved aerosol delivery devices. (Boucher and Beall)

Echogenic fetal bowel is detected by prenatal ultrasound in 0.2-1.8% of fetuses during the second trimester. Historically reported as a normal variant, echogenic fetal bowel more recently has been associated with Down syndrome, cytomegalovirus infection, and cystic fibrosis. The magnitude of risk for cystic fibrosis in fetuses with echogenic bowel varies with reports of prevalence's ranging from 0-13% when those with family histories of cystic fibrosis are excluded and prevalence of 25% when fetuses with family histories of cystic fibrosis are included. (Bosco, Norton, Lieberman)

Cystic fibrosis is an autosomal recessive multi-system disorder in which is caused by a defect in a trans membrane. Although prenatal diagnosis of CF can be done on fetal DNA. Such testing cannot detect all CF trans membrane conductance regulator mutations because more than 800 mutations have been described. (Bosco, Norton, Lieberman)

The doctors in the article used a hypothetical cohort of 1000singleton fetuses with second-trimester echogenic bowel to calculate the probability of cystic fibrosis when a single cystic fibrosis trans membrane conductance regulator mutation is detected. Cystic fibrosis detection rates for mutations in different ethnic populations were based on the National Institutes of Health's Consensus Statement on Genetic testing for Cystic Fibrosis. The model in the article used to calculate the rate of cystic fibrosis among Northern European fetuses with echogenic