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Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.

Hydrometallurgical and pyrometallurgical processes to recover gold (Au) from cell-phone printed circuit boards (PCBs) have the disadvantage of generating corrosive residues and consuming a large amount of energy. Therefore, it is necessary to look for biological processes that have low energy consumption and are friendly to the environment. Among the biological alternatives for the recovery of Au from PCB is the use of cyanogenic bacteria and filamentous fungi in cultures with agitation. Considering that it is important to explore the response of microorganisms in cultures without agitation to reduce energy expenditure in the recovery of metals from PCB, the present investigation evaluated the capacity of Aspergillus niger MXPE6 and a fungal consortium to induce Au bioleaching from PCB in a culture medium with glucose as a carbon source and without agitation (pH 4.5). The results indicate that the treatments with PCB inoculated with the fungal consortium showed a considerable decrease in pH (2.8) in comparison with the treatments inoculated with A. niger MXPE6 (4.0). The fungal consortium showed a significantly higher Au bioleaching (56%) than A. niger MXPE6 (17%). Finally, the use of fungal consortia grown without agitation could be an alternative to recover metals from PCB, saving energy and material resources.

The present study evaluated the removal efficiency of two dyes, Congo red (CR) and malachite green (MG), using either fresh or dry fungal biomass of two species of Trichoderma (T. virens and T. viride) and activated carbon. After 24 h, the CR removal efficiency obtained with fresh biomass was higher than that obtained with activated carbon. For the MG dye, the average removal with activated carbon (99%) was higher than those obtained with dry and fresh biomass of T. viride and T. virens. Experimental results for fresh and dry fungal biomass showed a good correlation with Langmuir isotherms. The adsorption rates of CR and MG by of T. virens and T. viride can be more appropriately described using the pseudo-second-order rate. We found an adsorption capacity of 81.82 mg g−1 for T. virens with MG dye. Results show that fresh or dry biomass of T. virens can represent a simple and cost-effective alternative for removing industrial dyes such as CR and MG.

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