The future of pediatric pulmonology: A survey of division directors, assessment of current research funding, and discussion of workforce trends

Adequacy of the US workforce in pediatric pulmonology has been a source of serious concern within the field for some time, as it has been for several pediatric subspecialties. Contributing factors have been thought to include low fill rates of fellowship training programs, aging, and retirement rates of the subspecialist population, and the perception of insufficient numbers of specialists in some regions to meet clinical care needs. Several approaches to assessing workforce needs have already been described, and stakeholder groups are currently working on additional analyses. Although the recent report by Harris et al. captured a broad snapshot of workforce perceptions of 485 pediatric pulmonologists, this study (reporting data collected in 2014) did not address the future scope of practice

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis