Objective To study the clinical significance of HBV preS1-Ag,HBV-DNA and HBeAg in main groups of HBV infection.Methods HBV preS1-Ag and hepatitis B serum markers individually were detected by ELISA,and HBV-DNA by fluorescence quantitative PCR, then the detection results of the 308 cases were analysed.Results The serum markers of the 308 cases infected by HBV presented four modes which were "HBsAg,HBeAg,HBcAb","HBsAg,HBeAb,HBcAb","HBsAg,HBeAg","HBsAg,HBcAb".The total positive rate of preS1-Ag was 62.34%(192/308),and HBV-DNA was 78.90%(243/308).Compared HBeAg(+) groups with HBeAg(-)/anti-HBe(+) groups, the corresponding positive rates of preS1-Ag were 71.65%(139/194) and 46.49%(53/114),respectively.The difference of the two groups was significant (?~2=18.30;P

Objective To analyze the clinical and imaging features of 2 siblings with leukoencephalopathy due to NADH dehydrogenase (ubiquinone)flavoprotein 2 (NDUFV2) gene mutation,in order to better understand and diagnose it earlier.Methods Clinical and follow-up data of the proband and his brother were collected.Clinical features including symptoms,signs and cranial magnetic resonance imaging (MRI) were analyzed,and 2 patients were followed up for a long time.Sanger sequencing,targeted next generation sequencing,and whole exome sequencing were performed to identify potential genetic variations in the 2 patients and their parents.Results (1) Clinical characteristics and follow-up:ages of onset were 4 months and 1 year respectively.Both of the patients presented rapid motor regression hyperinyotonia,positive pathological character.During the follow-up the condition became stable,motor function and cognition improved gradually after cocktail therapy.(2) Brain MRI of the 2 patients showed prominent abnormalities in deep cerebral white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery (FLAIR) hyperintense in the periventricular area.FLAIR images revealed that the abnormal white matter was partially rarefied and cavitated.Diffusion weighted images (DWI) showed high signals along the periphery of the involved areas.The follow-up MRI showed the cavitation still existed and even expanded,and DWI showed regional linear or spotty high signals around the original lesions.(3) Novel mutations in NDUFV2 gene,c.467T>A and c.404G>C,were identified in proband and his brother.The former inherited from his father,while the latter inherited from his mother,which was the new mutation not reported in the international.Conclusions The clinical features of the brothers presented subacute leukoencephalopathy with relatively stable or improved outcome.This was distinctive from the phenotypic features reported in 12 cases with hypertrophic cardiomyopathy or Leigh syndrome.The finding expanded the phenotypic spectrum of NDUFV2 mutations.Pathogenic gene of these patients which is the basis of genetic counseling for this family was determined.