ABSTRACT
The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there is variability in the presentation of this disease; arrhinia is the most constant clinical feature, which is then combined with a spectrum of anophthalmia/microphthalmia and/or hypogonadism. This rare entity is not associated with any specific genes, but the genes that are related to arrhinia and anophthalmia have been studied in an attempt to explain this phenomenon. We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient.
Subject(s)
Choanal Atresia/genetics , Eye Proteins/genetics , Homeodomain Proteins/genetics , Microphthalmos/genetics , Nose/abnormalities , Paired Box Transcription Factors/genetics , Repressor Proteins/genetics , Humans , Infant , Male , Mexico , Mutation , PAX6 Transcription FactorABSTRACT
OBJECTIVE: The desire for evidence-based clinical guidelines for nutritional support of the preterm infant has been identified. Published evidence has not yielded clear guidelines about the best method of delivery, substrate use, or appropriate outcome measure to evaluate nutrition support. In addition, reports on research of nutrition support often fail to give the most rudimentary process necessary to improve quality in various unit settings. METHODS: The Vermont Oxford Network "Got Milk" focus group developed eight potentially better practices for nutrition support, implementation strategies for these practices, and a comprehensive appraisal process to measure nutrition outcome in preterm infants. RESULTS: After implementation of the potentially better practices, all participating institutions showed earlier initiation of nutrition support, earlier attainment of adequate energy intakes, reduced delay in reaching full enteral feeds, more consistent nutrition support practice, decreased length of stay, cost savings, and improved growth at time of discharge. CONCLUSIONS: Development and implementation of evidence-based better nutrition support practices in neonates led to improved nutrient intake and growth with reduced length of stay and related costs. Consistent, comprehensive, multidisciplinary appraisal of practice is an integral component of improving nutrition outcomes in the neonatal population.