Objective:To evaluate the curative effect of non-surgical treatment of acute upper gastrointestinal perforation and analyze the risk factors.Methods:We retrospectively reviewed medical records of patients who were diagnosed with acute upper gastrointestinal perforation from Jan 2016 to Dec 2018 in Liaocheng People's Hospital. At first, all patients were put on non-surgical treatment. According to whether or not converted to surgery, they were divided into non-surgical treatment group (163 cases) and surgery group (29 cases). Univariate analyses and multivariate analyses were conducted.Results:192 patients with acute upper gastrointestinal perforation were cured without serious complications and death. The non-surgical treatment efficiency was 84.9%. The onset time ( OR=0.238, P=0.046), heart rate ( OR=1.043, P=0.004), serum albumin ( OR=0.869, P=0.002) are independent risk factors. Conclusion:Non-surgical treatment of acute upper gastrointestinal perforation is safe and effective. Onset time, heart rate and serum albumin are independent risk factors. In patients when time of onse t>12h, heart rate >100 beats/min, hypoalbuminemia, and high level of procalcitonin , conversion to surgery should be considered.

OBJECTIVE: To analyze the clinical phenotype and results of genetic testing in three children with Cornelia de Lange syndrome (CdLS). METHODS: Clinical data of the children and their parents were collected. Peripheral blood samples of the pedigrees were collected for next generation sequencing analysis. RESULTS: The main clinical manifestations of the three children have included growth delay, mental retardation, peculiar facies and other accompanying symptoms. Based on the criteria proposed by the International Diagnostic Consensus, all three children were suspected for CdLS. As revealed by whole exome sequencing, child 1 has harbored NIPBL gene c.5567_5569delGAA insTAT missense variant, child 2 has harbored SMC1A gene c.607A>G missense variant, and child 3 has harbored HDAC8 gene c.628+1G>A splicing variant. All of the variants were de novo in origin. CONCLUSION All of the children were diagnosed with CdLS due to pathogenic variants of the associated genes, among which the variants of NIPBL and HDAC8 genes were unreported previously. Above finding has enriched the spectrum of pathogenic variants underlying CdLS.
Humans ; Cell Cycle Proteins/genetics* ; De Lange Syndrome/diagnosis* ; Genotype ; Phenotype ; Genetic Testing ; Histone Deacetylases/genetics* ; Repressor Proteins/genetics*