Neonatal hemochromatosis (NH), one of the most common causes of liver failure in the neonate, often causes fetal loss or death during the neonatal period. Most cases are thought to be due to ...gestational alloimmune disease; however, other rare causes have been reported. NH is generally considered congenital and familial but not heritable. We present an infant diagnosed with NH whose clinical course differed significantly from that of most NH cases: at 11 months of age he had normal levels of liver enzymes, ferritin, and bilirubin, and normal neurodevelopment. This term male infant was born with a history of intrauterine growth restriction, oligohydramnios, and pericardial effusion. On day of life 1, he had hyperbilirubinemia and transaminitis; on day of life 3, ferritin was elevated; and on day of life 9, an MRI revealed iron deposits in the liver and renal cortex. Phenotypic features prompted a genetics consult. Whole-exome sequencing revealed a variant in the phosphatidylinositol glycan biosynthesis class A protein (
) gene. Germ-line
mutations are generally thought to be lethal in utero; however, there are reports of infants with
mutations associated with dysmorphic features, neurologic manifestations, biochemical perturbations, and systemic iron overload; development can be normal up to 6 months of age. Because of the differences between infants with NH versus
germ-line mutations in inheritance, prognosis, and natural history of disease, we propose that
gene testing should be considered when evaluating newborns who present with NH.
Modifications to infant formulas are continually being made as the components of human milk are characterized and as the nutrient needs of diverse groups of infants are identified. Formulas with ...long-chain polyunsaturated fatty acids added in amounts similar to those in human milk have recently become available in the United States; infants fed these formulas or human milk have higher tissue concentrations of long-chain polyunsaturated fatty acids and reportedly have better visual acuity than do infants fed nonsupplemented formulas. Selenium, an important antioxidant, is present in higher concentrations in human milk than in non-fortified cow milk-based formula, and the selenium intakes of infants fed nonfortified formulas are reported to be at or below recommended levels. Blood selenium concentrations and plasma glutathione peroxidase activity are higher in infants fed selenium-supplemented formulas or human milk than in infants fed non-fortified formulas. Nucleotides and their related products play key roles in many biological processes. Although nucleotides can be synthesized endogenously, they are considered "conditionally essential." Nucleotide concentrations in human milk are higher than in unsupplemented cow milk-based formulas, and studies in animals and human infants suggest that dietary nucleotides play a role in the development of the gastrointestinal and immune systems. Formulas for preterm infants after hospital discharge are designed to meet the needs of a population in whom growth failure is common. Several studies have shown that preterm infants fed nutrient-enriched formulas after hospital discharge have higher rates of catch-up growth than do infants fed standard term-infant formulas.
The important role that neural tissue fatty acid composition plays in neurodevelopment and various pathological states is increasingly recognized. However, there are limited data regarding the fatty ...acid composition of normal human brain at various ages. The purpose of this study was to describe human cerebral cortex fatty acid composition from ages 2 to 88 years. The relationship between cerebral cortex and erythrocyte fatty acid composition was also investigated. Samples of frontal cerebral cortex and of erythrocytes were obtained from 58 human subjects on whom autopsies were performed. The mean age of subjects was 40 +/- 29 years, with a range of 2 to 88 years. The fatty acid composition of tissues was determined, and linear regression models were used to describe the relationship between age and the fatty acid composition of cerebral cortex and erythrocytes. The data were bilinear, with changes occurring after the approximate age of 18 years. Therefore, the cohort was divided into subjects with ages < or =18 and >18 years. In the younger group, the polyunsaturated fatty acids generally decreased with age, with the exception of 22:6n3, which demonstrated a significant increase. The level of mono-unsaturated fatty acids, in contrast, generally increased to the age of 18 years. Several of the polyunsaturated fatty acids also decreased with age in the older cohort, particularly 20:4n6. The levels of 18:2n6, however, increased significantly with age in the older cohort. Among subjects < or =18 years of age, there was no significant relationship between cerebral cortex and erythrocyte fatty acid levels. In the older cohort, there was a significant relationship between brain and erythrocyte levels for several fatty acids, particularly 16:0. These data demonstrate that levels of cerebral cortex fatty acids change from early childhood through late adulthood, and indicate that the levels of several erythrocyte fatty acids may be useful in predicting brain fatty acid levels in adults.
Antenatal MgSO4 administration is used extensively as a tocolytic agent and to treat preeclampsia. Various effects on the fetus and newborn have been reported, and MgSO4 has well-documented ...vasoactive effects.
To determine if antenatal MgSO4 administration affects intestinal blood flow velocity in newborn preterm infants.
Peak, mean and end-diastolic velocities in the superior mesenteric artery were measured on day 1 of life. Maternal medical records were reviewed to identify infants whose mothers had been administered MgSO4 for preterm labor or preeclampsia within 24 h of delivery.
Fifty-six infants were studied: 27 were exposed and 29 were not exposed to antenatal MgSO4. Mean birth weight (1,371 ± 349 and 1,401 ± 469 g, respectively), gestational age (29.7 ± 2.0 and 30.0 ± 2.9 weeks, respectively) and infant hemodynamic and clinical variables (other than clinical indication for antenatal MgSO4 administration) were similar between groups. There were no significant differences between the exposed and unexposed groups in intestinal blood flow velocities. For the exposed group, however, there was a significant negative correlation between mean velocity and the number of hours from birth to the time superior mesenteric artery blood flow velocity measurements were made (p = 0.002); there was no correlation for the unexposed group (p = 0.852).
Group mean values indicate that antenatal exposure to MgSO4 does not significantly affect intestinal blood flow velocity in newborn preterm infants. However, the significant negative relationship between mean blood flow velocity and time from birth to blood flow velocity measurement in exposed infants suggests that there may be measurable effects of MgSO4 exposure within the hours immediately after birth. Trials that prospectively evaluate the development of intestinal blood flow velocities are needed to further clarify potential effects of antenatal MgSO4 on the gastrointestinal tract of preterm infants.
To identify factors related to the postnatal increase in superior mesenteric artery blood flow velocity (SMA BFV).
SMA BFV was measured in 35 infants (birth weight 1047±246 g) on day of life (DOL) 1, ...3, 5, 7 10 and 14. Latent curve modeling (LCM) was used to measure the longitudinal change in BFV for each subject, and the correlation between changes in BFV and baseline values. Non-parametric correlations were calculated between BFV and variables previously reported to be related to SMA BFV.
There was significant variability in SMA BFV on DOL 1, a significant increase from DOL 1–14, and significant variability in the postnatal increase. Infants with higher enteral feeding volumes had greater increases, while infants receiving positive pressure ventilation or hyperalimentation had lower increases.
Several clinical factors affect the postnatal increase in SMA BFV. The use of LCM is useful in longitudinal studies of very low birth weight (VLBW) infants, who are clinically and demographically heterogeneous.
At hospital discharge, preterm infants may have low body stores of nutrients, deficient bone mineralization, and an accumulated energy deficit. This double-blind, randomized study evaluated the ...growth of premature infants with birth weights <1800 g who were fed a 22 kcal/fl oz nutrient-enriched postdischarge formula (PDF) or a 20 kcal/fl oz term-infant formula (TF) from hospital discharge to 12 months' corrected age (CA).
Infants were randomized to PDF or TF a few days before hospital discharge with stratification by gender and birth weight (<1250 g or >/=1250 g). The formulas were fed to 12 months' CA. Growth was evaluated using analysis of variance controlling for site, feeding, gender, and birth weight group. Interaction effects were also assessed. Secondary analyses included a repeated measures analysis and growth modeling.
One hundred twenty-five infants were randomized; 74 completed to 6 months' CA and 53 to 12 months' CA. PDF-fed infants weighed more than TF-fed infants at 1 and 2 months' CA, gained more weight from study day 1 to 1 and 2 months' CA, and were longer at 3 months' CA. There were significant interactions between feeding and birth weight group-among infants with birth weights <1250 g, those fed PDF weighed more at 6 months' CA, were longer at 6 months' CA, had larger head circumferences at term 1, 3, 6, and 12 months' CA, and gained more in head circumference from study day 1 to term and to 1 month CA. The repeated measures and growth modeling analyses confirmed the analysis of variance results. The PDF formula seemed to be of particular benefit for the growth of male infants. Infants fed the PDF consumed less formula and had higher protein intakes at several time points. Energy intakes, however, were not different.
Growth was improved in preterm infants fed a nutrient-enriched postdischarge formula after hospital discharge to 12 months' CA. Beneficial effects were most evident among infants with birth weights <1250 g, particularly for head circumference measurements.
Neonates with congenital diaphragmatic hernia (CDH) often have other major malformations. Anatomic airway anomalies associated with CDH include congenital stenosis, pulmonary hypoplasia, and abnormal ...bronchial branching. We describe an infant with CDH who, after developing recurrent upper-lobe atelectasis, was found to have a right tracheal bronchus. This clinically significant anomaly can have important and potentially preventable adverse consequences.
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