Louis Bartoshesky

TL;DR: Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival, and the usefulness of detection of non-SCID T-cell lymphopenia by the same screening remains to be determined.

TL;DR: Very low T4 values on initial newborn screening are associated with increased odds of death and IVH, and additional investigation is needed to determine whether low serum thyroxine level contributes to IVH and neonatal death or whether it is simply an associated factor.

TL;DR: This article is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality patient care and should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and Tests that are reasonably directed to obtaining the same results.

TL;DR: The data show that both low total T(4) and TSH, measured at the time of nursery admission, are associated with death and severe intraventricular hemorrhage, and suggest that it may be feasible to design a study of early T (4) supplementation to determine potential benefit in infants with the lowest T( 4) values rather than treating based on associated factors such as gestational age.

TL;DR: The infant was exposed in utero to hydantoin and there is no other identifiable cause for the malformations apparent in the infant's or his family's history.