Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient. CONCLUSIONS: Gene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.

Quality of reporting of systematic reviews published in "evidence-based" Chinese journals.

BACKGROUND: The number of systematic reviews (SRs)/meta-analyses (MAs) has increased dramatically in China over the past decades. However, evaluation of quality of reporting of systematic reviews published has not been undertaken. The objective of this study is to evaluate the quality of reporting of SRs/MAs assessing efficacy and/or harms of clinical interventions published in "evidence-based" Chinese journals. METHODS: Web-based database searches were conducted for the Chinese Journal of Evidence-based Medicine, the Journal of Evidence-Based Medicine, the Chinese Journal of Evidence Based Pediatrics, and the Chinese Journal of Evidence-Based Cardiovascular Medicine. SRs/MAs assessing efficacy and/or harms of clinical interventions were included. The cut-off was December 31st 2011. The PRISMA statement was applied to assess the quality of reporting. Each item was assessed as follows: 'Yes' for total compliance, scored '1'; 'partial' for partial compliance, scored '0.5'; and 'No' for non-compliance, scored '0'. The review was considered to have major flaws if it received a total score of ≤15.0, minor flaws if it received a total score of 15.5 to 21.0, and minimal flaws if it received a total score 21.5 to 27.0. Odds ratios were used for binary variables, and the mean difference was used for continuous variables. Analyses were performed using RevMan 5.0 software. RESULTS: Overall, 487 SRs/MAs were identified and assessed. The included reviews had medium quality with minor flaws based on PRISMA total scores (range: 8.5-26.0; mean: 19.6 ± 3.3). The stratified analysis showed that SRs/MAs with more than 3 authors, from a university, hospital + university cooperation, multiple affiliations (≥2), and funding have significantly higher quality of reporting of SRs/MAs; 58% of the included reviews were considered to have minor flaws (total score of 15.6 to 21.0). Only 9.6% of reviews were considered to have major flaws. Specific areas needing improvement in reporting include the abstract, protocol and registration, and characteristics of the search. CONCLUSIONS: The reporting of SRs published in "evidence-based" Chinese journals is poor and needs to be improved in order for reviews to be useful. SR authors should use the PRISMA checklist to ensure complete and accurate accounts of their SRs.