Neonatal diabetes, which can be transient or permanent, is defined as hyperglycemia that presents within the first month of life and requires insulin therapy. Transient neonatal diabetes mellitus has been associated with abnormalities of the paternally inherited copy of chromosome 6, including duplications of a portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imprinted gene in this disorder. To date, all patients with transient neonatal diabetes mellitus and uniparental disomy have had complete paternal isodisomy. We describe a patient with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal portion of 6q, from 6q24-qter. This observation demonstrates that mitotic recombination of chromosome 6 can also give rise to uniparental disomy and neonatal diabetes, a situation similar to that observed in Beckwith-Wiedemann syndrome, another imprinted disorder. This finding has clinical implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be considered in patients with transient neonatal diabetes mellitus.
Vitamin-D is not only an essential element in bone health, but it is also a pro-hormone. Deficiency of vitamin D is the most common cause of rickets and is also known to increase the risk of respiratory distress syndrome, lower respiratory infections, food sensitivities, asthma, type I diabetes, autism and schizophrenia. Vitamin D deficiency limits the effective absorption of dietary calcium and phosphorus. Vitamin D status in newborns is entirely dependent on maternal supply during pregnancy. Low maternal vitamin D status during pregnancy is a major risk factor for rickets in infants. Rickets in children is caused by severe, chronic vitamin D deficiency with apparent skeletal abnormalities, but neonates with vitamin D insufficiency have no overt skeletal or calcium metabolism defects. Rickets was a global disease in the early twentieth century. It has nearly disappeared in developed countries after its causal pathway was understood and fortification of milk with the hormone vitamin D was introduced at the population level. Surprisingly, rickets is re-emerging per recent evidence. Vitamin D deficiency is prevalent in both developed and developing countries. The chapter will review the prevalence of vitamin D deficiency in pregnant women and newborn population and its adverse effects on pregnancy and infant’s health. The chapter also describes evidence-based recommendations to prevent vitamin D deficiency in these vulnerable population.
Background: Standardized protocols have been shown to reduce clinical practice variation and improve patient outcomes. Purpose: To measure the impact of a standardized nutrition bundle inclusive of donor human milk (DHM) on hospital outcomes of very low birth-weight (VLBW) infants in a safety-net hospital. Methods: The study used the Model for Improvement methodology to drive improvement in practice. Outcome measures consisted of necrotizing enterocolitis (NEC), mortality, growth at 36 weeks' postmenstrual age and discharge, as well as volume and type of milk consumption during hospitalization. Findings: NEC rate decreased from 16.67% in the control group to 6.78% in the standardized nutrition bundle group (P = .07). Similarly, there was significant reduction in mortality with the bundled intervention (15.6% in the control group vs 1.6% in the nutrition bundle group; P = .006). Time to first (15 vs 27.5 hours of life; P < .001) and full-volume enteral feeding (8.5 vs 10 days; P = .086) were reduced in the standardized nutrition bundle group compared with the control group. The human milk volume almost doubled with the intervention. Implications for Practice: Our standardized nutrition bundle protocol inclusive of DHM resulted in lower NEC rates and reduced mortality. The implementation of the DHM program proved to be cost-effective and saved lives. Our findings may help guide development of a structured approach to nutrition protocols inclusive of DHM that can be adapted by other units located in safety-net hospitals. Implications for Research: Future research on ethnic and racial barriers to access and affordability of DHM is warranted and much needed.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.