Diffuse intrinsic pontine glioma biopsy: A single institution experience

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109626/1/pbc25224.pd

Histological Changes of Bronchopulmonary Dysplasia and Pulmonary Hypertension: An Autopsy Series of 42 Preterm Infants

Background: Bronchopulmonary Dysplasia (BPD), a significant cause of perinatal morbidity and mortality, leads to disrupted pulmonary vascular growth and ultimately pulmonary hypertension (PH). The diagnosis of BPD is made by oxygen requirement for at least first 28 days of life. We hypothesized that histologic changes of BPD are evident before 28 days of age. Methods: All live born preterm infants born \u3c37 weeks of gestational age (GA), who received an autopsy between 2010 and 2017 at Children’s Hospital of Michigan or Hutzel Women’s Hospital, were identified by autopsy records. Infants with major congenital defects were excluded. Clinical data were extracted from electronic medical records. Autopsy specimens of lung and heart tissue were examined by a single pathologist, and classified according to presence or absence of defining features of BPD and PH. Results: Of the 42 preterm infants that met the study criteria, 79% were \u3c32 weeks GA, 55% were male, 55% were African American, 33% were SGA, and 17% were twins. Infants that died at \u3c28 days of life were statistically more likely to be African American and receiving high frequency ventilation and were less likely to have preterm premature rupture of membranes (PPROM) and an echocardiogram obtained as part of their clinical workup. Of infants \u3c32 weeks GA, 61% died at \u3c28 days of age; histological BPD was observed in 25% of infants and PH was observed in 65%. Of infants \u3c32 weeks GA, 39% died at ≥28 days; histological BPD was observed in 92% and histological PH was observed in 85% of subjects. Of infants ≥32 weeks GA, 78% died at \u3c28 days of age; histological BPD was observed in 0% of infants and PH was observed in 71%. Of infants ≥32 weeks GA, 22% died at ≥28 days; histological BPD and PH were both observed in 50% of subjects. Histological changes of BPD observed in 5 infants born \u3c32 weeks GA who died before 28 days of age were identified as early as 6.73 days of age. Histologic PH was identified in 4 of the 5 infants with the earliest evidence being observed in an infant that died at 6.73 days of age. Conclusion: Histologic changes consistent with BPD and PH were evident in 25% and 65% respectively of postmortem lung samples from infants born \u3c32 weeks GA who received less than 28 days of cumulative oxygen support. These findings suggest that there is a need to develop better clinical criteria and dedicate future research to seeking biomarkers for BPD in extremely preterm infants before 32 weeks GA. Because timely intervention is key to minimizing long-term effects of the disease, research that further refines the timeline of BPD’s pathogenesis is essential. By identifying infants at risk through reliable biomarkers and initiating preventative measures before 28 days of life, clinicians may prevent long-term morbidity and mortality related to BPD

Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21 - a case report

Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature. NH is a rare, severe liver disease of intra-uterine onset that is characterized by neonatal liver failure and hepatic and extrahepatic iron accumulation that spares the reticuloendothelial system. NH is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation. Although porto-pulmonary hypertension (PPH) has been reported as a complication of liver failure in adults and older children, this has not been reported in neonates with liver failure of any etiology. This is probably due to the rarity of liver failure in newborns, delayed diagnosis and high mortality. The importance of recognizing PPH is that it is reversible with liver transplantation but at the same time increases the risk of post-operative mortality. Therefore, early diagnosis of PPH is critical so that early intervention can improve the chances of successful liver transplantation. We report for the first time the association of liver failure with porto-pulmonary hypertension secondary to NH in an infant with Trisomy 21

The genetic structure of a tribal population, the Yanomama Indians: III. Seven serum protein systems *

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65775/1/j.1469-1809.1957.tb01401.x.pd