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Jiang J.,Qinghai University | Wang X.L.,Qinghai University | Ma Y.Y.,Chinese Liberation Army General Hospital | Ma Y.Y.,Qinghai University
Genetics and Molecular Research | Year: 2015

The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed. Samples obtained from the three patients and their families were subjected to restriction fragment length polymorphism and gene sequencing analyses. mtDNA copy numbers of all patients and their mothers were analyzed. The patients displayed nervous system impairment, including motor and mental developmental delay, hypotonia, and motor regression. Two patients also suffered from Leigh syndrome. Assay of the mitochondrial respiratory chain enzymes revealed an isolated complex III deficiency in the three patients. The m.3243 A>G mutation was detected in all patients and their mothers. The mutation loads were 48.3, 57.2, and 45.5% in the patients, and 20.5, 16.4, and 23.6% in their respective mothers. The leukocyte mtDNA copy numbers of the patients and their mothers were within the control range. The clinical manifestation and genetics were observed to be very heterogeneous. Patient carrying an m.3243 A>G mutation may biochemically display a deficiency in the mitochondrial respiratory chain complex III. ©FUNPEC-RP. Source


Braun J.,Rheumatology Medical Center | Braun J.,Ruhr University Bochum | Van Der Horst-Bruinsma I.E.,VU University Amsterdam | Huang F.,Chinese Liberation Army General Hospital | And 4 more authors.
Arthritis and Rheumatism | Year: 2011

Objective Etanercept, a fully human tumor necrosis factor (TNF) receptor, is an effective treatment in patients with ankylosing spondylitis (AS). Sulfasalazine is frequently used for the treatment of both axial symptoms and peripheral symptoms of AS, and it has been the recommended therapy before the use of an anti-TNF agent when peripheral arthritis is present. Until now, no clinical trial has compared the efficacy and safety of a TNF blocker with that of sulfasalazine. This study was undertaken to compare the efficacy and safety of etanercept with that of sulfasalazine after 16 weeks of treatment in patients with axial and peripheral manifestations of AS. Methods In this randomized, double-blind study, patients received etanercept 50 mg once weekly (n = 379) or sulfasalazine titrated to a maximum of 3 gm/day (n = 187) for 16 weeks. The primary end point was the proportion of patients who achieved the Assessment of SpondyloArthritis international Society criteria for 20% improvement (ASAS20) at 16 weeks. Last observation carried forward was predefined for imputation of missing values. Results The mean age of the patients was 41 years, 74% were male, and the mean disease duration was 7.6 years. The proportion of ASAS20 responders at week 16 was greater among patients treated with etanercept compared with those treated with sulfasalazine (75.9% versus 52.9%; P < 0.0001). As early as week 2 of treatment, etanercept was found to be more effective than sulfasalazine (P < 0.0001) in ameliorating both the axial symptoms and peripheral manifestations. Serious adverse events rarely occurred, and the rate of serious adverse events did not differ between groups. Conclusion In this population of patients with AS, etanercept was significantly more effective than sulfasalazine in improving the signs and symptoms of AS in the axial skeleton and peripheral joints. Copyright © 2011 by the American College of Rheumatology. Source


Ma Y.-Y.,Chinese Liberation Army General Hospital | Wu T.-F.,Peking University | Liu Y.-P.,Peking University | Wang Q.,Peking University | And 11 more authors.
Brain and Development | Year: 2014

Objective: To investigate respiratory chain complex II deficiency resulted from mutation in succinate dehydrogenase gene (SDH) encoding complex II subunits in China. Methods: An 11-year-old boy was admitted to our hospital. He had a history of progressive psychomotor regression and weakness since the age of 4. years. His cranial magnetic resonance imaging revealed focal, bilaterally symmetrical lesions in the basal ganglia and thalamus, indicating mitochondrial encephalopathy. The activities of mitochondrial respiratory chain enzymes I-V in peripheral leukocytes were determined via spectrophotometry. Mitochondrial DNA and the succinate dehydrogenase A (SDHA) gene were analyzed by direct sequencing. Results: Complex II activity in the leukocytes had decreased to 33.07. nmol/min/mg mitochondrial protein (normal control 71.8. ±. 12.9); the activities of complexes I, III, IV and V were normal. The entire sequence of the mitochondrial DNA was normal. The SDHA gene showed two heterozygous frame-shift mutations: c.G117G/del in exon 2 and c.T220T/insT in exon 3, which resulted in stop codons at residues 56 and 81, respectively. Conclusions: We have described the first Chinese case of mitochondrial respiratory chain complex II deficiency, which was diagnosed using enzyme assays and gene analysis. Two novel, compound, frame-shift mutations, c.G117G/del in exon 2 and c.T220T/insT in exon 3 of the SDHA gene, were found in our patient. © 2013 The Japanese Society of Child Neurology. Source


Qu P.,Chinese Liberation Army General Hospital | Yu X.,Chinese Liberation Army General Hospital | Liang P.,Chinese Liberation Army General Hospital | Cheng Z.,Chinese Liberation Army General Hospital | And 3 more authors.
Ultrasound in Medicine and Biology | Year: 2013

The purpose of this study was to evaluate the clinical utility of low-mechanical-index contrast-enhanced ultrasound (CEUS) in assessing the response to percutaneous microwave ablation in patients with hepatocellular carcinoma by comparing the results with those of contrast-enhanced magnetic resonance imaging (CEMRI). Between August 2005 and July 2011, 182 patients with 231 lesions treated by microwave ablation were included in the study. One month after microwave ablation, CEUS and CEMRI were performed to evaluate therapeutic responses. The difference in diagnostic accuracy between the two methods was analyzed to evaluate the value of contrast-enhanced ultrasound after microwave ablation. The final diagnosis was based on computed tomography and MRI typical findings of therapeutic response of hepatocellular carcinoma, proven serum tumor marker levels and additional follow-up. The sensitivity of CEUS and CEMRI in evaluating the therapeutic effect of hepatocellular carcinoma was 86.5% and 84.6%; the specificity, 98.3% and 98.9%; and the accuracy, 95.7% and 95.7%.There was no significant statistical disparity between CEUS and CEMRI (p > 0.05).The sensitivity, specificity and accuracy were 98.1, 97.2 and 97.8% when CEUS was used in combination with CEMRI to evaluate the therapeutic response of hepatocellular carcinoma to microwave ablation. CEUS examination was proven to be a tolerable and easy modality for assessment of the therapeutic effect of microwave ablation and can provide results comparable to those obtained with CEMRI. Combining the results of these two examinations may reduce false-positive and false-negative diagnoses. © 2013. Source


Ma Y.-Y.,Chinese Liberation Army General Hospital | Wu T.-F.,Peking University | Liu Y.-P.,Peking University | Wang Q.,Peking University | And 5 more authors.
Clinical Genetics | Year: 2015

To investigate the clinical, enzymological and mitochondrial gene profiles of complex I deficiency in Chinese, clinical and laboratory data of the patients (79 boys, 54 girls) were retrospectively assessed. Activities of mitochondrial respiratory chain complexes in peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed in 62 patients. Restriction fragment length polymorphism and gene sequencing analyses were performed in 15 families. Ninety-one patients had isolated complex I deficiency; 42 had combined deficiencies of complex I and other complexes. The main clinical presentations were neuromuscular disorders (107 patients) and non-neurological dysfunction (hepatopathy, renal damage and cardiomyopathy; 26 patients). In 32 of 62 patients who underwent mtDNA sequencing, 24 mutations were identified in 15 mitochondrial genes. The 12338T>C, 4833A>G and 14502T>C mutations were found in 12.9%, 11.3% and 4.8% patients, respectively. Seven patients had multiple mutations. Three novel mutations were identified. Chinese patients with complex I deficiency presented heterogeneous phenotypes and genotypes. Twenty-four mutations were identified in 15 mitochondrial genes in 51.6% patients. mtDNA mutations were more common in isolated complex I deficiency than in combined complex deficiencies. The 12338T>C, 4833A>G and 14502T>C mutations were common. © 2015 John Wiley & Sons A/S. Source

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