A systematic review of the physical and chemical characteristics of pollutants from biomass burning and combustion of fossil fuels and health effects in Brazil

The aim of this study was to carry out a review of scientific literature published in Brazil between 2000 and 2009 on the characteristics of air pollutants from different emission sources, especially particulate matter (PM) and its effects on respiratory health. Using electronic databases, a systematic literature review was performed of all research related to air pollutant emissions. Publications were analyzed to identify the physical and chemical characteristics of pollutants from different emission sources and their related effects on the respiratory system. The PM2.5 is composed predominantly of organic compounds with 20% of inorganic elements. Higher concentrations of metals were detected in metropolitan areas than in biomass burning regions. The relative risk of hospital admissions due to respiratory diseases in children was higher than in the elderly population. The results of studies of health effects of air pollution are specific to the region where the emissions occurred and should not be used to depict the situation in other areas with different emission sources

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry.

To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design