Outcomes of children treated with tracheostomy and positive-pressure ventilation at home.

Background: Long-term outcomes for children who survive on tracheostomy and positive-pressure ventilation (TPPV) at home are not well known.

Methods: A retrospective review of 20 years of clinical data at a single institution was performed. Outcome measures included 5-year survival, decannulation rate, and neurocognition.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

Background: Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease.