ESIN in Femur Fractures: Exact Technique Is Important!

Abstract : Background and Purpose: : Elastic stable intramedullary nailing (ESIN) is gaining increasing popularity, but studies with high case loads are rare. It was the aim of four experienced pediatric trauma centers to give an update of indications for ESIN, postoperative management, and complications. Patients and Methods: : Data of the last 100 ESIN cases of each department before June 30, 2003 were collected by reviewing the charts and X-rays. Among these 400 collected ESINs 65 femoral shaft fractures (16%) were found. The patients' age ranged between 23/4 and 151/4 years. The middle third of the shaft was affected 42 times (65%), 13 fractures (20%) were in the proximal third of the diaphysis, and ten (15%) in the distal part of the femur, five dia- and five metaphyseal. Mainly transverse fractures were treated (52%), followed by 38% oblique or spiral fractures and 10% wedge or comminuted fractures. Two open reductions were required. Median hospitalization time was 6 days. Nails were extracted after a mean of 178 days. Results: : Six skin irritations (wound infections, hematoma, seroma), one patient with myositis ossificans and one with constant pain at too long nail end were found. Three cosmetically relevant scarrings were observed during follow-up. Relevant axial deviations at fracture healing in two and shortening in one fracture could be seen, all caused by technical failure. Conclusion: : ESIN meets all demands for an optimal fracture healing in children. Still, a considerable percentage of complications is observed, mainly caused by the surgeon himself, which can be avoided by exact indication and technique. Postoperative management has yet to be standardize

CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with congenital short-bowel syndrome (CSBS) are born with a substantial shortening of the small intestine, to a mean length of 50 cm, compared with a normal length at birth of 190-280 cm. They also are born with intestinal malrotation. Because CSBS occurs in many consanguineous families, it is considered to be an autosomal-recessive disorder. We aimed to identify and characterize the genetic factor causing CSBS. METHODS: We performed homozygosity mapping using 610,000 K single-nucleotide polymorphism arrays to analyze the genomes of 5 patients with CSBS. After identifying a gene causing the disease, we determined its expression pattern in human embryos. We also overexpressed forms of the gene product that were and were not associated with CSBS in Chinese Hamster Ovary and T84 cells and generated a zebrafish model of the disease. RESULTS: We identified loss-of-function mutations in Coxsackie-and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. CLMP is a tight-junction-associated protein that is expressed in the intestine of human embryos throughout development. Mutations in CLMP prevented its normal localization to the cell membrane. Knock-down experiments in zebrafish resulted in general developmental defects, including shortening of the intestine and the absence of goblet cells. Because goblet cells are characteristic for the midintestine in zebrafish, which resembles the small intestine in human beings, the zebrafish model mimics CSBS. CONCLUSIONS: Loss-of-function mutations in CLMP cause CSBS in human beings, likely by interfering with tight-junction formation, which disrupts intestinal development. Furthermore, we developed a zebrafish model of CSBS