Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins.

Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings with this diagnosis have been reported but never twins. In this article, we provided a review and discussion of this syndrome following its presentation in monochorionic, diamnionic twin females.

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

OBJECTIVE: We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival. STUDY DESIGN: Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database. RESULTS: The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14). Compared to infants without birth defects, infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias had longer survival rates, higher inpatient medical costs, and longer LOS. CONCLUSION: Care practices and survival have changed over time for infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias. This information will be useful for clinicians in counseling families and in shaping goals of care prenatally and postnatally.

Long-term reparative effects of mesenchymal stem cell therapy following neonatal hyperoxia-induced lung injury.

BACKGROUND: Mesenchymal stem cell (MSC) therapy may prevent neonatal hyperoxia-induced lung injury (HILI). There are, however, no clear data on the therapeutic efficacy of MSC therapy in established HILI, the duration of the reparative effects, and the exact mechanisms of repair. The main objective of this study was to evaluate whether the long-term reparative effects of a single intratracheal (IT) dose of MSCs or MSC-conditioned medium (CM) are comparable in established HILI. METHODS: Newborn rats exposed to normoxia or hyperoxia from postnatal day (P)2)-P16 were randomized to receive IT MSCs, IT CM, or IT placebo (PL) on P9. Alveolarization and angiogenesis were evaluated at P16, P30, and P100. RESULTS: At all time periods, there were marked improvements in alveolar and vascular development in hyperoxic pups treated with MSCs or CM as compared with PL. This was associated with decreased expression of inflammatory mediators and an upregulation of angiogenic factors. Of note, at P100, the improvements were more substantial with MSCs as compared with CM. CONCLUSION: These data suggest that acute effects of MSC therapy in HILI are mainly paracrine mediated; however, optimum long-term improvement following HILI requires treatment with the MSCs themselves or potentially repetitive administration of CM.

Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism.

Congenital hypothyroidism is the most common treatable cause of mental retardation. We report an unusual case of congenital hypothyroidism presenting as intractable seizures in an infant delivered to a mother known to have autoimmune hypothyroidism and who was noncompliant with therapy. To our knowledge, this rare presentation of congenital hypothyroidism has not been reported previously.