Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy.

Rationale: Neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease that presents in infancy and improves during childhood. Long-term outcomes have not previously been described. In one familial cohort, we have reported that NEHI is associated with a heterozygous variant of NKX2.

Decreasing mechanical ventilator support in medically fragile children with bronchopulmonary dysplasia: A step-by-step weaning protocol at a pediatric long term extended care facility.

Purpose: Prolonged mechanical ventilation (PMV) in medically fragile children is commonly used in pediatric long term extended care facilities (P-LTEC). Currently, PMV weaning is performed in an unstandardized fashion. Without an official protocol, patients are subjected to delayed weaning, infection, increased mortality, and difficulty obtaining placement at adult group homes.

Unilateral pulmonary vein atresia: A rare case of hemoptysis.

We present a rare case of hemoptysis secondary to isolated unilateral pulmonary vein atresia. Isolated pulmonary vein atresia is a rare condition in which patients typically acquire a diagnosis in infancy and early childhood [Mataciunas et al.; Pourmoghadam et al.

Obstructive sleep apnea in poorly controlled asthmatic children: effect of adenotonsillectomy.

Background: Asthma and obstructive sleep apnea (OSA) in children share multiple epidemiological risk factors and the prevalence of snoring is higher in asthmatic children, suggesting that the latter may be at increased risk for OSA. Since both asthma and OSA are inflammatory disorders, we hypothesized that polysomnographically demonstrated OSA would be more frequent among poorly controlled asthmatics (PCA), and that treatment of OSA, if present, would ameliorate the frequency of acute asthmatic exacerbations (AAE).

Methods: Children with PCA were referred for an overnight sleep study, and adenotonsillectomy (tonsillectomy and adenoidectomy, T&A) was performed if OSA was present.

Pulmonary capillaritis and hemorrhage in neonatal lupus erythematosus (NLE).

We describe the case of an infant who presented to our institution with tachypnea, cough, and hypoxemia. The baby had been diagnosed with complete heart block (heart rate 50-60 beats/min) in utero and had a pacemaker placed at birth. The mother was found to have both anti-Ro and anti-La antibodies.

Rational approach to the wheezy infant.

The infant or child presenting to the physician's office with persistent or recurrent wheezing during the first two year's of life poses a diagnostic dilemma. A careful medical history should document risk factors for persistent wheezing, including maternal smoking, feeding practices, environmental history, and family history of asthma or cystic fibrosis (CF). A suggested diagnostic approach to the causes of infantile wheezing is outlined.