Clinical and economic outcomes of infants receiving breast milk in the NICU.

ISSUES AND PURPOSE: This study compared clinical and economic outcomes for infants who were exclusively fed breast milk and infants who were fed commercial formula. DESIGN AND METHODS: A retrospective medical record review from a regional neonatal intensive care unit (N = 80) using consultation logs from the lactation coordinator and a matched sample of formula-fed infants. RESULTS: Neither clinical (weight gain, length of stay, days of parenteral nutrition) nor economic outcomes (direct variable costs, net revenue) differed significantly between the groups. PRACTICE IMPLICATIONS: While it may not be possible to demonstrate sufficient cost savings while the infant resides within the NICU to justify a lactation coordinator, long-term clinical and economic outcomes may be sensitive to this specialized nursing service.

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

Gaucher disease, the most common glycolipid storage disease, can be caused by a large variety of mutations. We report here the identification and characterization of a novel mutation in the human glucocerebrosidase gene, IVS 8 (-11delC) (-14T>A), in two siblings with Gaucher disease type I which occurs within the 3' end of intron 8. Both siblings were compound heterozygotes for the IVS 8 (-11delC) (-14T>A) mutation and for the c.626 G>C (R170P) substitution within exon 6. No mRNA species carrying the IVS 8 (-11delC) (-14T>A) mutation were detected by RT-PCR analysis of the RNA extracted from the patients' fibroblasts. To study the possible effects of the IVS 8 (-11delC) (-14T>A) sequence alteration on the splicing of the proximal exon 9, we have established an in vitro system generating a minigene carrying the genomic region of human glucocerebrosidase spanning from exon 8 to exon 10. Transfections into the human Hep3B cell line of the wild-type construct resulted in the expression of mRNA with the glucocerebrosidase exons correctly spliced. On the contrary, transfections of the construct carrying the IVS 8 (-11delC) (-14T>A) mutation resulted in the expression of mRNA with an 11-bp insertion located between the end of exon 8 and the beginning of exon 9. These results indicated that the 5243T>A substitution created a new 3' splice site 11 bp upstream of the wild-type one, leading to the incorporation into the mRNA of these extra 11 bases. Moreover, the new 3' splice site created by this 5243T>A transversion was preferred over the wild-type one in 100% of cases. The in vitro studies suggest that, in the patients, the 11-bp inclusion causes a shift in the reading frame with the generation of a stop codon after codon 388 which undergoes early degradation.

Improving patient outcomes through CQI: vascular access planning.

This article reports the use of the continuous quality improvement (CQI) process to improve patient outcomes. The FADE method (focus, analyze, develop, and execute) was used to focus on vascular access planning, analyze data concerning intravenous (i.v.) therapy, develop a vascular access planning algorithm, and execute implementation of the algorithm. An evaluation study revealed that patients whose vascular access planning was consistent with the algorithm reported fewer i.v.s, less difficulty starting i.v.s, and less stress; waited significantly less time until central venous line (CVL) placement (for those who received CVLs); and had significantly shorter lengths of stay.

Polymorphisms in angiotensin-converting enzyme gene and severity of renal disease in Henoch-Schoenlein patients. Italian Group of Renal Immunopathology.

BACKGROUND: The influence of angiotensin converting enzyme (ACE) gene polymorphism on the progression of primary IgA nephropathy (pIgAN) is still debated. Even though the allele frequency was reported to be similar to controls, in some studies D/D patients had a faster decline of renal function and need of dialysis. Since Henoch-Schoenlein purpura (HSP) nephritis is considered a systemic vasculitis with renal lesions indistinguishable from pIgAN, we investigated the effect of the ACE polymorphism on presentation and progression of HSP IgAN. METHODS: We examined the insertion (I) and deletion (D) polymorphism in intron 16 of ACE gene by PCR amplification of genomic DNA of 82 patients (37 children), with biopsy-proven IgAN associated with HSP enrolled in a collaborative study. RESULTS: No significant association with clinical presentation at onset or with final outcome was found (functional impairment at outcome in 31.8%, D/D, 27.4%, I/D and 44% I/I, heavy proteinuria in 36.3% D/D, 21.6% I/D, and 11.1% I/I). Patients homozygous for the D allele had a greater number of extrarenal relapses (P=0.0028). No association was found between the ACE genotype and the presence of hypertension at onset and at the end of the follow-up. No difference was found between adults and children. CONCLUSIONS: In this cohort of HSP IgAN, no ACE I/D polymorphisms were found to be associated with progressive deterioration of renal function. Different genes possibly involved in vasculitis might more strictly modulate expression and evolution of HSP IgAN.

The A/G polymorphism in the -78 position of the apolipoprotein A-I promoter does not have a direct effect on transcriptional efficiency.

A promoter polymorphism A/G at position 78 bp upstream of the transcription initiation site characterizes the human apolipoprotein A-I gene. Some studies correlated the higher Apo A-I levels or increased Apo A-I transcription efficiency with the A allele, while other studies did not confirm these results. We have investigated the in vitro effects of this transition on the transcriptional efficiency of ApoAI gene by creating two sets of identical constructs with the whole Apo A-I promoter, carrying the A or the G, linked to the complete ApoAI gene. The relative activity of the two promoter alleles was determined through a quantitative RT-PCR system after transient tranfections of human HepG2 cell line in basal state and after stimulation with retinoic acid or 17beta-estradiol. Our results exclude differences in promoter activity linked to the A or G promoter alleles either in basal or in stimulated conditions. The data suggest that the A/G polymorphism does not directly affect the transcriptional efficiency of ApoAI gene, although it may be in linkage disequilibrium with other regulatory sequences and the combination of these elements may explain the contradictory results of the ApoAI gene expression.

Polymorphism of the apolipoprotein E gene and early carotid atherosclerosis defined by ultrasonography in asymptomatic adults.

Clinical and autoptical studies have suggested a predisposing role of the allele E4 of apolipoprotein E (apoE) in the development of atherosclerosis and cardiovascular disease. To investigate the possible contribution of apoE allele polymorphism to the carotid intima-media thickness (IMT) as assessed by ultrasound, we studied 260 asymptomatic nondiabetic subjects (121 men, 139 women; mean +/- SD age, 53 +/- 7 years), randomly selected from the population register of the inhabitants of Trieste, Italy. B-mode ultrasound was used to quantify the maximum IMT at 12 sites on the near and far wall of the common, bifurcation, and internal carotid arteries. ApoE genotypes were determined from amplified apoE sequences by restriction isotyping. The frequencies of E2, E3, and E4 alleles were 0.073, 0.827, and 0.100, respectively. As expected, subjects with E4 allele had the highest levels of total serum cholesterol and LDL cholesterol, subjects with E2 allele had the lowest levels, and those with E3 genotype had intermediate levels. The echographic measurements of carotid IMT showed increasing values from E2 to E4 carriers. After adjustment for total and LDL cholesterol serum levels, triglycerides, ratio of LDL to HDL cholesterol, age, sex, and body mass index, ANCOVA showed that the common carotid IMT was significantly greater (P = .029) in subjects with E4 allele compared with E3 carriers. Our data confirm the influence of apoE4 on cholesterol levels and clearly show that apoE genotype affects carotid atherosclerosis in its early stages in middle-aged asymptomatic subjects.

Pediatric i.v. catheters: efficacy of saline flush.

Several studies have demonstrated that normal saline is as effective as dilute heparin flush for maintaining patency of "heparin locks." These studies tended not to include the smallest size IV catheters that are frequently used for pediatric patients. Normal saline was less effective than dilute heparin solution for maintaining function of 24 gauge catheters (n = 120) in this clinical study.

Lack of efficacy of thickened feeding as treatment for gastroesophageal reflux.

The efficacy of thickened feedings for the treatment of gastroesophageal reflux in infancy was evaluated. Fifty-two infants were examined with prolonged pH monitoring of the distal esophagus after feedings of apple juice or apple juice thickened with rice cereal. All infants had a minimum of three feedings of both thickened and unthickened juice. The recordings of distal esophageal pH were analyzed for the percent of time the pH was less than 4 in the first 2 hours after each feeding. The infants were maintained in the following positions after feeding: prone (n = 29), prone-board with the head elevated 30 degrees from horizontal (n = 29), supine (n = 7), and unrestricted (n = 21). We found no significant difference in the percent of time with reflux with thickened versus unthickened feedings except in those infants maintained in the 30-degree prone position. In the first 2 hours after eating thickened juice, infants maintained in this position had increased esophageal reflux time (P less than 0.006). Further analysis revealed that 33% of the infants had a greater than 30% increase in esophageal reflux time after thickened feedings. Our study suggests that the immediate effect of thickened feedings on gastroesophageal reflux in infants is unpredictable.