NeoReviews最新文献

Screening for pulmonary hypertension (PH) in infants with bronchopulmonary dysplasia (BPD) was recommended by the American Thoracic Society in 2015. However, the definition of BPD has since changed. This review summarizes the current definition of BPD, the recommendations and tools for screening for PH in infants with BPD, and the various treatment options and outcomes in infants with BPD-PH.

Genetic disorders affecting surfactant protein production and function can result in respiratory distress and severe respiratory failure in late-preterm and term neonates. Pathogenic variants in surfactant pulmonary-associated protein B (SFTPB) are typically loss-of-function and disrupt surfactant protein B (SP-B) production and surfactant function. Dominant variants in surfactant pulmonary-associated protein C (SFTPC) generally result in a toxic gain-of-function with disruption of surfactant protein C (SP-C) processing and trafficking in the alveolar epithelial type 2 cells. Adenosine triphosphate binding cassette transporter A3 (ABCA3) variants include loss-of-function or "null" variants in which no ABCA3 protein is made or missense variants that disrupt intracellular trafficking of ABCA3 or impair phospholipid transport. Pathogenic variants and deletions of the NK2 homeobox 1 gene (NKX2-1) result in haploinsufficiency and alter transcription of surfactant-associated genes as well as genes for brain and thyroid development. Diagnosis of these disorders requires a high index of clinical suspicion because presentations may vary between and within diseases. Prognosis is highly variable, ranging from requiring supportive care with improvement in respiratory status over time to severe disease with early mortality without lung transplantation. Neonatologists and pulmonologists alike should recognize early presentations of these rare genetic disorders of surfactant metabolism to identify and care for affected infants and to counsel families regarding prognosis, treatment options, recurrence risk, and risk assessment for other family members.

Umbilical cord blood (UCB) has garnered attention as a potentially valuable resource in neonatal medicine. Blood from the cord contains a rich population of stem and progenitor cells, including hematopoietic stem cells, mesenchymal stromal cells, and endothelial progenitor cells, each offering unique therapeutic potential. Early clinical studies and preclinical trials have suggested that these cells may be able to promote tissue repair, provide neuroprotection, and modulate the immune system, potentially providing promising therapeutic avenues for neonates with limited treatment options. Current research has focused on the safety, feasibility, and preliminary efficacy of UCB-based therapies, particularly in neonates with brain injuries, lung diseases, and hematological disorders. Despite positive early results, the field is still evolving, and large-scale clinical trials are underway to further evaluate the potential of UCB-derived cells in neonates. In this review, we examine the diverse roles of UCB-derived cells in potentially treating neonatal diseases such as anemia, intraventricular hemorrhage, hypoxic-ischemic encephalopathy, and bronchopulmonary dysplasia. We also discuss future directions for the application of UCB-derived cells in transfusion and regenerative medicine.

Esophageal atresia is a congenital disease that results in discontinuity of the esophagus and can occur with or without fistulous connections to the trachea. It is often associated with other anomalies and has multiple long-term health implications. Because of the complexity of care involved in affected children, it is important to diagnose this lesion as early as possible. Surgical repair via either anastomosis of the native esophagus or reconstruction using either the stomach or intestine if this is not possible remain the mainstays of therapy, although variations in technique prevail. In this review, we summarize the approach to diagnosis, preoperative management considerations, surgical approach, medical considerations, and long-term outcomes of infants with esophageal atresia.