De novo ALX4 variant detected in child with non-syndromic craniosynostosis

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Ultrasonic guided percutaneous ethanol injection with or without combined radiofrequency ablation for hepatocellular carcinomas.

OBJECTIVE: The aim of this retrospective study was to evaluate whether radiofrequency ablation (RFA) combined percutaneous ethanol injection (PEI) in the management of hepatocellular carcinoma (HCC) improves treatment outcomes. PATIENTS AND METHODS: We retrospectively included 66 HCC patients who received RFA or RFA plus PEI from February 2011 to January 2014 in Jingmen No. 1 People’s Hospital. Moreover, 31 cases received RFA plus PEI as the experiment group and 35 subjects treated with RFA aloe as the control group. The overall survival and treatment related complications were compared between the two groups. RESULTS: For RFA group, the 1‑year, 2‑year, and 3‑year survival rate were 82.0%, 69.3%, and 30.7%, respectively, with the median survival time of 27.1 months. For RFA plus PEI group, the 1‑year, 2‑year, and 3‑year survival rate were 97.1%, 73.9%, and 37.5%, respectively, with the median survival time of 33.6 months. The overall survival of the two groups was not statistical different with the hazard ratio of 1.48 (P > 0.05); three cases of treatment associated complications were found in RFA group with 1 abscess, 1 pleural effusion, and 1 portal vein thrombosis. Moreover, 2 cases of complication were recorded in RFA plus PEI group with 1 pleural effusion and 1 portal vein thrombosis. The complicated incidence rate was not statistical different between the two groups (P < 0.05). CONCLUSION: The combination treatment of HCC was safe and had a slightly higher primary effectiveness rate than RFA alone.