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- Ortigoza-Escobar, J. D., et al.
(författare)
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
- 2017
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Ingår i: Annals of Neurology. - : Wiley. - 0364-5134. ; 82:3, s. 317-330
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Tidskriftsartikel (refereegranskat)abstract
- Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317–330. © 2017 American Neurological Association
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- Pekka Raatikainen, M. J., et al.
(författare)
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Radiofrequency catheter ablation maintains its efficacy better than antiarrhythmic medication in patients with paroxysmal atrial fibrillation: On-treatment analysis of the randomized controlled MANTRA-PAF trial
- 2015
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Ingår i: International Journal of Cardiology. - : ELSEVIER IRELAND LTD. - 0167-5273 .- 1874-1754. ; 198, s. 108-114
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Tidskriftsartikel (refereegranskat)abstract
- Background: The Medical ANtiarrhythmic Treatment or Radiofrequency Ablation in Paroxysmal Atrial Fibrillation (MANTRA-PAF) is a randomized trial comparing radiofrequency catheter ablation (RFA) to antiarrhythmic drugs (AADs) as first-line treatment of paroxysmal atrial fibrillation (PAF). In order to eliminate the clouding effect of crossover we performed an on-treatment analysis of the data. Methods and results: Patients (n = 294) were divided into three groups: those receiving only the assigned therapy (RFA and AAD groups) and those receiving both therapies (crossover group). The primary end points were AF burden in 7-day Holter recordings at 3, 6, 12, 18, and 24 months and cumulative AF burden in all recordings. At 24 months, AF burden was significantly lower in the RFA (n = 110) than in the AAD (n = 92) and the crossover (n = 84) groups (90th percentile 1% vs. 10% vs. 16%, P = 0.007), and more patients were free from any AF (89% vs. 73% vs. 74%, P = 0.006). In the RFA, AAD and the crossover groups 63%, 59% and 21% (P less than 0.001) of the patients had no AF episodes in any Holter recording, respectively. Quality of life improved significantly in all groups. There were no differences in serious adverse events between the RFA, AAD and crossover groups (19% vs. 8% vs. 23%) (P = 0.10). Conclusions: In the treatment of antiarrhythmic therapy naive patients with PAF long-term efficacy of RFA was superior to AAD therapy. Thus, it is reasonable to offer RFA as first-line treatment for highly symptomatic patients who accept the risks of the procedure and are aware of frequent need for reablation(s). (C) 2015 Elsevier Ireland Ltd. All rights reserved.
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