Objective To observe the therapeutic efficacy of extended therapy with interferon and a nucleoside analogue for treating patients with HBeAg?positive chronic hepatitis B( CHB)?Methods Sixty cases patients diagnosed with CHB in You′an Hospital of Beijing Affiliated to Capital Medical University from March 2012 to May 2015 were retrospectively analyzed?They were divided into group A with 29 cases and group B with 31 cases according to different treatment methods?Group A were treated with pegylated interferonα?2a( Peg?IFNα?2a) combined with adefovir dipivoxil for 96 weeks,group B were treated with Peg?IFN α?2a combined with adefovir and lamivudine for 96 weeks?The patients'recovery rate of ALT,hepatitis B virus( HBV) DNA response rate and HBeAg and HBsAg seroconversion rate and conversion rate of 12,24,48,96 weeks in the treatment were observed?Results There were no significant differences in recovery rate of ALT,hepatitis B virus( HBV) DNA response rate,HBeAg seroconversion rate and HBsAg seroconversion rate between the two groups at differenct time points( P>0?05)?HBeAg seroconversion rates in group A were 34?5% at 48 weeks,62?1% at 96 weeks, and the difference was significant( P=0?036)?HBeAg seroconversion rates in group B were 35?5% at 48 weeks, 61?3% at 96 weeks,and the difference was significant ( P=0?042)?Conclusion The treatment of peginterferonα?2a in combination with adefovir dipivoxil and lamivudine is not more efficacious than peginterferon α?2a in combination with adefovir dipivoxil?The extended treatment of Peg? IFNα?2a plus a nucleoside analogue can achieve high rates of HBeAg seroconversion in patients with HBeAg?positive CHB.

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Non-Small-Cell Lung ; genetics ; DNA Mutational Analysis ; methods ; DNA, Neoplasm ; genetics ; Female ; Humans ; Lung Neoplasms ; genetics ; Male ; Middle Aged ; Mutation ; Mutation Rate ; Receptor, Epidermal Growth Factor ; genetics

PURPOSE: Circulating free DNA (cfDNA) in plasma is promising to be a surrogate for tumor tissue DNA. However, not all epidermal growth factor receptor (EGFR) mutations in tumor tissue DNA has been detected in matched cfDNA, at least partly due to inefficient cfDNA extraction method. The purpose of this study was to establish an efficient plasma cfDNA extraction protocol. MATERIALS AND METHODS: The yield of plasma cfDNA extracted by our modified phenol-chloroform (MPC) method from non-small-cell lung cancer (NSCLC) patients was compared with that by QIAamp MinElute Virus Spin kit (Qiagen kit) as control, using the Wilcoxon rank-sum test. TaqMan quantitative polymerase chain reaction (qPCR) assays were used to quantify the plasma cfDNA extracted. Both Mutant-enriched PCR (ME-PCR) coupled sequencing and DxS EGFR mutation test kit were used to evaluate the impact of extraction method on EGFR mutation analysis. RESULTS: MPC method extracted more plasma cfDNA than Qiagen kit method (p=0.011). The proportion of longer fragment (> or =202 bp) in cfDNA extracted by MPC method was significantly higher than by Qiagen kit method (p=0.002). In the sequencing maps of ME-PCR products, a higher mutant peak was observed on plasma cfDNA extracted by MPC method than by Qiagen kit method. In DxS EGFR mutation test kit results, plasma cfDNA extracted by MPC method contained more tumor-origin DNA than by Qiagen kit method. CONCLUSION: An improved plasma cfDNA extraction method of MPC is provided, which will be beneficial for EGFR mutation analysis for patients with NSCLC.
Base Sequence ; Carcinoma, Non-Small-Cell Lung/*genetics ; Chloroform ; DNA Mutational Analysis/*methods ; DNA, Neoplasm/*blood/*isolation & purification ; Genetic Testing/methods ; Humans ; Lung Neoplasms/*genetics ; Molecular Sequence Data ; Phenol ; Polymerase Chain Reaction/methods ; Receptor, Epidermal Growth Factor/*genetics

A male patient aged 1 year and 8 months with type 2 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL2) was reported. The clinical characteristics included short stature, flat middle face, hypotonia, limb joint relaxation, hyperextension of metacarpophalangeal articulation, etc. In addition, the patient had a history of congenital laryngeal stridor. Thus, SEMDJL2 was determined according to the above symptoms and medical history. Sanger sequencing showed that the child carried a c.443C>T missense mutation in the KIF22 gene, which resulted in an amino acid variation namely p.Pro148Leu. This phenotype was preliminarily determined as a pathogenic mutation. Therefore, it is suggested that next-generation sequencing genetic testing could be helpful for genetic diagnosis in children with congenital laryngeal stridor, systemic joint relaxation, and excessive joint extension.