A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive condition of impaired beta-oxidation. Traditionally, treatment included restriction of dietary long-chain fatty acids via a low-fat diet and supplementation of medium chain triglycerides. In 2020, triheptanoin received FDA approval as an alternative source of medium chain fatty acids for individuals with long-chain fatty acid oxidation disorders (LC-FAOD). We present a case of a moderately preterm neonate born at 33 2/7 weeks gestational age with LCHADD who received triheptanoin and developed necrotizing enterocolitis (NEC). Prematurity is known as a major risk factor for NEC, with risk increasing with decreasing gestational age. To our knowledge, NEC has not previously been reported in patients with LCHADD or with triheptanoin use. While metabolic formula is part of the standard of care for LC-FAOD in early life, preterm neonates may benefit from more aggressive attempts to use skimmed human milk to minimize exposure to formula during the risk period for NEC during feed advancement. This risk period may be longer in neonates with LC-FAOD compared to otherwise healthy premature neonates.

The Third Man: DNA sensing as espionage in pulmonary vascular health and disease.

For as long as nucleic acids have been utilized to vertically and horizontally transfer genetic material, living organisms have had to develop methods of recognizing cytosolic DNA as either pathogenic (microbial invasion) or physiologic (mitosis and cellular proliferation). Derangement in key signaling molecules involved in these pathways of DNA sensing result in a family of diseases labeled interferonopathies. An interferonopathy, characterized by constitutive expression of type I interferons, ultimately manifests as severe autoimmune disease at a young age. Afflicted patients present with a constellation of immune-mediated conditions, including primary lung manifestations such as pulmonary fibrosis and pulmonary hypertension. The latter condition is especially interesting in light of the known role that DNA damage plays in a variety of types of inherited and induced pulmonary hypertension, with free DNA detection elevated in the circulation of affected individuals. While little is known regarding the role of cytosolic DNA sensing in development of pulmonary vascular disease, exciting new research in the related fields of immunology and oncology potentially sheds light on future areas of fruitful exploration. As such, the goal of this review is to summarize the state of the field of nucleic acid sensing, extrapolating common shared pathways that parallel our knowledge of pulmonary hypertension, in a molecular and cell-specific manner. Principles of DNA sensing related to known pulmonary injury inducing stimuli are also evaluated, in addition to potential therapeutic targets. Finally, future directions in pulmonary hypertension research and treatments will be briefly discussed.