RESUMO
BACKGROUND: Omental infarction (OI) is an infrequent cause of acute abdominal pain and there is no consensus on whether conservative or surgical treatment is the best strategy when performing positive CT diagnosis. OBJECTIVES: To assess which of the two treatments is the most commonly adopted and compare outcomes in terms of success rate in resolution of symptoms and hospital length of stay. ELIGIBILITY CRITERIA: Case report and case series of patients with abdominal pain and positive diagnosis by CT of omental infarction. DATA SOURCES: PubMed, Science Direct and Google Scholar in combination with cross-referencing searches and manual searches of eligible articles from January 2000 to June 2018. PARTICIPANTS: Patients older than 18 years of age. METHODS: Patient characteristics and results were summarized descriptively. Categorical variables were assessed by chisquare test or Fischer's exact test, and continuous variables by the Wilcoxon-Mann-Whitney or Kruskal-Wallis test. Risk factors for failure of the conservative management were identified using multivariate logistic regression. RESULTS: 90 articles were included in the final analysis (146 patients). 107 patients (73.3%) received conservative treatment with a failure rate of 15.9% (patients needing surgery) and 39 patients (26.7%) received surgery as first treatment. The mean hospital length of stay was 5.1 days for the conservative treatment group and 2.5 days for the surgery group with statistically significant differences (p = 0.00). Younger age and white blood cells count ≥12000/µl were predictive factors of conservative treatment failure. CONCLUSIONS: Although conservative treatment is effective in most patients, surgery has advantages in terms of hospital length of stay.
RESUMO
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by mutations in the NF1 gene. The mutation rate of NF1 is one of the highest known for human genes and the mutational analysis has revealed a wide variety of changes, a significant proportion of which affect normal pre-mRNA splicing. Here, we describe two truncating mutations in exon 37 of NF1, the recurrent c.6792C>A and the novel c.6799C>T change, that occur in cis and segregate with NF1 in a large family. The double mutation induces defective splicing of exon 37 and thus, we performed quantitative comparisons of transcripts harboring single (c.6792C>G or c.6792C>A) and double (c.6792C>A and c.6799C>T) mutations to assess their effects on exon 37 splicing. Skipping of exon 37 was greater and there were fewer mutant full-length transcripts in samples with the double mutation than in those carrying single mutations. Thus, the combination of the c.6792C>A and c.6799C>T mutations augmented exon 37 skipping. These findings suggest that, in addition to the previously described exonic splicing enhancer in the c.6791_6795 region, c.6799 lies within an additional regulatory element that influences the splicing of exon 37.