Intestinal failure requires the placement and maintenance of a long-term central venous catheter for the provision of fluids and/or nutrients. Complications associated with this access contribute to significant morbidity and mortality, while the loss of access is an increasingly common reason for intestinal transplant referral. As more emphasis has been placed on the prevention of central line-associated bloodstream infections and new technologies have developed, care for central lines has improved; however, because care has evolved independently in local centers, care of central venous access varies significantly in this vulnerable population. The present position paper from the Intestinal Failure Special Interest Group of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) reviews current evidence and provides recommendations for central line management in children with intestinal failure.
Biliary atresia (BA) is a pediatric cholangiopathy with unknown etiology occurring in isolated and syndromic forms. Laterality defects affecting the cardiovascular and gastrointestinal systems are the most common features present in syndromic BA. Most cases are sporadic, although reports of familial cases have led to the hypothesis of genetic susceptibility in some patients. We identified a child with BA, malrotation, and interrupted inferior vena cava whose father presented with situs inversus, polysplenia, panhypopituitarism, and mildly dysmorphic facial features. Chromosomal microarray analysis demonstrated a 277kb heterozygous deletion on chromosome 20 which included a single gene, FOXA2, in the proband and her father. This deletion was confirmed to be de novo in the father. The proband and her father share a common diagnosis of heterotaxy, but they also each presented with a variety of other issues. Further genetic screening revealed that the proband carried an additional protein-altering polymorphism (rs1904589; p.His165Arg) in the NODAL gene that is not present in the father, and this variant has been shown to decrease expression of the gene. As FOXA2 can be a regulator of NODAL expression, we propose that haploinsufficiency for FOXA2 combined with a decreased expression of NODAL is the likely cause for syndromic BA in this proband.
Background
Body composition prediction equations using skinfolds are useful alternatives to advanced techniques, but their utility across diverse pediatric populations is unknown.
Aim
To evaluate published and new prediction equations across diverse samples of children with health conditions affecting growth and body composition.
Subjects and Methods
Anthropometric and dual-energy x-ray absorptiometry (DXA) body composition measures were obtained in children with Down syndrome (n=59), Crohn disease (n=128), steroid-sensitive nephrotic syndrome (n=67), and a healthy reference group (n=835). Published body composition equations were evaluated. New equations were developed for ages 3 to 21y using the healthy reference sample and validated in other groups and national survey data.
Results
Fat mass [FM], fat-free mass [FFM] and percent body fat [%BF]) from published equations were highly correlated with DXA-derived measures (r=0.71 to 0.98), but with poor agreement (mean difference: 2.4kg, −1.9kg, and 6.3% for FM, FFM and %BF). New equations produced similar correlations (r=0.85 to 1.0) with improved agreement for the reference group (0.2kg, 0.4kg, and 0.0% for FM, FFM and %BF, respectively), and in sub-groups.
Conclusions
New body composition prediction equations show excellent agreement with DXA, and improve body composition estimation in healthy children and those with selected conditions affecting growth.
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