Congenital Heart Disease and Primary Ciliary Dyskinesia.

Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) has been established. In parallel, research into the cause of CHD has elucidated further the role of ciliary function on the development of normal cardiovascular structure. Increased awareness by clinicians regarding this elevated risk of PCD in patients with CHD will allow for more comprehensive screening and identification of cases in this high-risk group with earlier diagnosis leading to improved health outcomes.

Prospective Changes in Health-Related Quality of Life and Emotional Outcomes in Kidney Transplantation over 6 Years.

Little is known on long-term outcomes in kidney transplantation. This study evaluated changes and predictors of generic and transplantation-specific health-related quality of life (HQoL) over six years in N = 102 kidney transplant survivors using the Short-form Health Survey-36 and the Transplant Effects questionnaire. Mixed models analysis was used to determine long-term outcomes.

Nebulized hypertonic saline via positive expiratory pressure versus via jet nebulizer in patients with severe cystic fibrosis.

Background: Nebulized hypertonic saline is a highly effective therapy for patients with cystic fibrosis (CF), yet 10% of patients are intolerant of hypertonic saline administered via jet nebulizer. Positive expiratory pressure (PEP) nebulizers splint open the airways and offers a more controlled rate of nebulization.

Methods: In 4 consecutive adult CF patients who were intolerant of hypertonic saline via jet nebulizer, we nebulized 6% hypertonic saline via a PEP nebulizer.