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Meethal S.V.,University of Wisconsin - Madison | Hogan K.J.,University of Wisconsin - Madison | Mayanil C.S.,Lurie Childrens Hospital of Chicago Research Center | Iskandar B.J.,University of Wisconsin - Madison
Child's Nervous System | Year: 2013

Introduction: Multiple genetic and epigenetic factors involved in central nervous system (CNS) development influence the incidence of neural tube defects (NTDs). Discussion: The beneficial effect of periconceptional folic acid on NTD prevention denotes a vital role for the single-carbon biochemical pathway in NTD genesis. Indeed, NTDs are associated with polymorphisms in a diversity of genes that encode folate pathway enzymes. Recent evidence suggests that CNS development and function, and consequently NTDs, are also associated with epigenetic mechanisms, many of which participate in the folate cycle and its input and output pathways. We provide an overview with select examples drawn from the authors' research. © 2013 Springer-Verlag Berlin Heidelberg.

Lopriore E.,Leiden University | Mearin M.L.,Leiden University | Oepkes D.,Leiden University | Devlieger R.,Leuven University Medical Center | Whitington P.F.,Lurie Childrens Hospital of Chicago Research Center
Prenatal Diagnosis | Year: 2013

Neonatal hemochromatosis (NH) is a rare disorder but the most common cause of acute liver failure in neonates. NH is characterized by severe hepatic injury and iron overload and is associated with high perinatal mortality and morbidity rates. NH is often preceded by oligohydramnios and intrauterine growth restriction, suggesting an important impact of NH during fetal life. Stillbirth and prematurity are not uncommon. During the last decade, major discoveries on the etiology of NH have radically changed the management and outcome of this disease. NH is now regarded as an alloimmune disease and is, as such, often referred to as gestational alloimmune liver disease. Antenatal treatment with intravenous immunoglobulins starting at 14weeks' gestation has been shown to prevent the development of NH in subsequent pregnancies. Postnatal treatment, previously based on the use of anti-oxidants and chelation therapy, has now successfully been replaced by exchange transfusions and intravenous immunoglobulins substitution. This review summarizes the latest discoveries on the etiology of NH and the new recommendations concerning its management and prevention. © 2013 John Wiley & Sons, Ltd.

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