The Quality of Randomized Controlled Trials in High-impact Rheumatology Journals, 1998-2018.

OBJECTIVE: Well-designed randomized controlled trials (RCT) mitigate bias and confounding, but previous evaluations of rheumatology trials found high rates of methodological flaws. Outside of rheumatoid arthritis, no studies in the modern era have assessed the quality of rheumatology RCT over time or regarding industry funding. METHODS: We identified all RCT published in 3 high-impact rheumatology journals from 1998, 2008, and 2018. Quality metrics derived from a modified Jadad scale were analyzed by year of publication and by funding source. RESULTS: Ninety-six publications met inclusion criteria; 82 of these described the primary analysis of an RCT. Over time (1998-2008-2018), trials were less likely to adequately report dropouts and withdrawals (100% vs 82% vs 60%; p < 0.01) or include an active comparator (44% vs 12% vs 13%; p = 0.01). Later trials were more likely to evaluate biologic therapy (11% vs 38% vs 83%; p < 0.01) and report adequate randomization procedures (39% vs 29% vs 60%; p = 0.04). Seventy-nine percent of trials received industry funding. Industry-funded trials were more likely to report double-blinding (86% vs 53%; p < 0.01), patient-reported outcome measures (77% vs 41%; p < 0.01), and intention-to-treat analyses (86% vs 65%; p = 0.04). CONCLUSION: Industry-funded trials comprise the majority of RCT published in high-impact rheumatology journals and more frequently report metrics associated with RCT quality. RCT assessing active comparators and nonbiologic therapies have become less common in high-impact rheumatology journals.

[A3243G mitochondrial DNA mutation and heterogeneous phenotypic expression]. / Mutación de ADN mitocondrial A3243G y expresión fenotípica heterogénea.

BACKGROUND: mitochondrial DNA (DNAmt) mutations are associated with several clinical manifestations affecting different systems. They are usually underdiagnosed even with the relatively high prevalence in certain populations. The diagnosis can be established on clinical data, histopathologic studies and biochemical abnormalities in the respiratory chain, or the finding of the specific causal mutation in the DNAmt. CLINICAL CASE: we describe a patient and her family history, affecting neurologic, cardiovascular and endocrine systems. We established the diagnosis of MELAS syndrome (mitochondrial encephalomy-opathy, lactic acidosis and stroke-like episodes) with the collaboration of the Laboratory of Molecular Neurogenetics of the Department of Neurology of Columbia University in New York, NY, USA to whom we sent peripheral blood DNA. The DNA was amplified by polymerase chain reaction (PCR) and subjected to restriction fragment length polymorphism analysis. The study was positive for the point mutation adenine (A) for guanine (G) on the position 3243 of DNAmt. We make a brief clinical description. We also review DNAmt, related mutations and clinical expressions of the disease. We also highlighted the prevalence of DNAmt mutations in certain clinical situations.