ABSTRACT
Optic atrophy describes a group of diseases of retinal ganglion cells and axons that eventually lead to loss of vision. Optic atrophy has both congenital and acquired causes, and its diagnosis (or differential diagnosis) is complicated. This case report describes a 20-year-old man who presented with a 1-year history of progressive vision loss in both eyes and no obvious systemic symptoms. Fundus examination revealed bilateral optic atrophy. Based on clinical characteristics, visual field analysis and pattern visual evoked potential examination, the presumptive diagnosis was Leber hereditary optic neuropathy (LHON). Analysis of mitochondrial DNA indicated the absence of all of three common mutations associated with LHON (m.3460G>A, m.11778G>A, m.14484T>C). Detailed questioning of the patient revealed a history of prolonged language development and poor balance. Neurological examination indicated abnormal co-ordination, suggesting the presence of inherited spinocerebellar ataxia (SCA). Analysis of the SCA7 gene revealed a high number of trinucleotide repeats [(CAG)(n), n > 64], confirming the diagnosis of SCA. The aetiology of optic atrophies is complicated and the molecular genetic detection approach provides the best information for diagnosing these diseases.
Subject(s)
Optic Atrophy, Hereditary, Leber/diagnosis , Optic Atrophy/diagnosis , Spinocerebellar Ataxias/diagnosis , Ataxin-7 , DNA Mutational Analysis , DNA, Mitochondrial/genetics , Diagnosis, Differential , Humans , Male , Molecular Diagnostic Techniques , Nerve Tissue Proteins/genetics , Optic Atrophy, Hereditary, Leber/genetics , Spinocerebellar Ataxias/genetics , Young AdultABSTRACT
A DNA vaccine against the hepatitis B virus (HBV), enhanced by IL-2/IFN-γ fusion protein expression from a plasmid construct and mediated by in vivo electroporation, was evaluated in a total of 39 HBeAg-positive patients with chronic hepatitis B (CHB). The six of 39 patients with a serum alanine aminotransferase (ALT) value of 1-2 times upper limit of normal (ULN) were assigned to the open-label arm (Group01) receiving vaccine monotherapy; the remaining 33 patients with an ALT of more than two times ULN were enroled to the randomized and controlled arm (Group02) receiving lamivudine (LAM) monotherapy (LAM+placebo) or combined therapy (LAM+DNA vaccine) in 1:2 ratio. In Group01, a significant elevation of HBV-specific IFN-γ-secreting T-cell counts in comparison with baseline was observed. In Group02, the proportion of patients with HBV DNA suppression was higher with LAM+DNA vaccine than with LAM monotherapy at each visit time point after the final injection of DNA vaccine at week 36, revealing a significant difference between the two groups (P = 0.03) at week 60. The incidence of dual-site mutations of rtM204/I/S+rtL180M was significantly lower (P = 0.03) with an identified lower virological breakthrough (VBT) rate (P = 0.03) in patients receiving LAM+DNA vaccine than LAM monotherapy, accompanied with a significant higher positive T-cell response rate in patients receiving LAM+DNA vaccine (P = 0.03). In conclusion, this study provides evidence that HBV DNA vaccination is safe and immunologically effective, and that the HBV-specific T-cell responses induced by DNA vaccination under LAM chemotherapy showed a correlation with the suppression of viral replication in patients with CHB.
Subject(s)
Antiviral Agents/administration & dosage , Hepatitis B Vaccines/administration & dosage , Hepatitis B, Chronic/therapy , Lamivudine/administration & dosage , Vaccines, DNA/administration & dosage , Adolescent , Adult , Alanine Transaminase/blood , Antiviral Agents/adverse effects , Drug Therapy/methods , Electroporation , Female , Hepatitis B Vaccines/adverse effects , Hepatitis B Vaccines/immunology , Humans , Immunotherapy/methods , Interferon-gamma/metabolism , Lamivudine/adverse effects , Male , Middle Aged , Placebos/administration & dosage , Plasmids , T-Lymphocytes/immunology , Treatment Outcome , Vaccines, DNA/adverse effects , Vaccines, DNA/immunology , Viral Load , Young AdultABSTRACT
The effects of polydatin on endotoxin-induced acute lung injury were studied in rats. The lung injury was induced by infusion of inactivated E. coli 30 min after MPS blockade with red cell membrane. It was found that pretreatment with polydatin resulted in marked reduction of lung wet-to-dry weight ratio, lung permeability index (LPI), neutrophil count in BALF and hemoconcentration. The elevation of lung tissue MDA and the decrease in plasma GSH-Px activity were greatly improved with polydatin. There was significant correlation between LPI and lung MDA level (r = 0.741, P < 0.01). Postmortem examination revealed that polydatin attenuated the histopathological changes. We conclude that polydatin protectsral against endotoxin-induced acute lung injury.
