A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations.     

Combined anaerobic ammonium and methane oxidation for nitrogen and methane removal

Anammox (anaerobic ammonium oxidation) is an environment-friendly and cost-efficient nitrogen-removal process currently applied to high-ammonium-loaded wastewaters such as anaerobic digester effluents. In these wastewaters, dissolved methane is also present and should be removed to prevent greenhouse gas emissions into the environment. Potentially, another recently discovered microbial pathway, n-damo (nitrite-dependent anaerobic methane oxidation) could be used for this purpose. In the present paper, we explore the feasibility of simultaneously removing methane and ammonium anaerobically, starting with granules from a full-scale anammox bioreactor. We describe the development of a co-culture of anammox and n-damo bacteria using a medium containing methane, ammonium and nitrite. The results are discussed in the context of other recent studies on the application of anaerobic methane- and ammonia-oxidizing bacteria for wastewater treatment.     

Combined Use of Systematic Conservation Planning,Species Distribution Modelling,and Connectivity Analysis Reveals Severe Conservation Gaps in a Megadiverse Country (Peru)

Conservation planning is crucial for megadiverse countries where biodiversity is coupled with incomplete reserve systems and limited resources to invest in conservation. Using Peru as an example of a megadiverse country, we asked whether the national system of protected areas satisfies biodiversity conservation needs. Further, to complement the existing reserve system, we identified and prioritized potential conservation areas using a combination of species distribution modeling, conservation planning and connectivity analysis. Based on a set of 2,869 species, including mammals, birds, amphibians, reptiles, butterflies, and plants, we used species distribution models to represent species'' geographic ranges to reduce the effect of biased sampling and partial knowledge about species'' distributions. A site-selection algorithm then searched for efficient and complementary proposals, based on the above distributions, for a more representative system of protection. Finally, we incorporated connectivity among areas in an innovative post-hoc analysis to prioritize those areas maximizing connectivity within the system. Our results highlight severe conservation gaps in the Coastal and Andean regions, and we propose several areas, which are not currently covered by the existing network of protected areas. Our approach helps to find areas that contribute to creating a more representative, connected and efficient network.     

Large expansion of oil industry in the Ecuadorian Amazon: biodiversity vulnerability and conservation alternatives

Ecuador will experience a significant expansion of the oil industry in its Amazonian region, one of the most biodiverse areas of the world. In view of the changes that are about to come, we explore the conflicts between oil extraction interests and biodiversity protection and apply systematic conservation planning to identify priority areas that should be protected in different oil exploitation scenarios. First, we quantified the current extent of oil blocks and protected zones and their overlap with two biodiversity indicators: 25 ecosystems and 745 species (whose distributions were estimated via species distribution models). With the new scheme of oil exploitation, oil blocks cover 68% (68,196 km²) of the Ecuadorian Amazon; half of it occupied by new blocks open for bids in the southern Amazon. This region is especially vulnerable to biodiversity losses, because peaks of species diversity, 19 ecosystems, and a third of its protected zones coincide spatially with oil blocks. Under these circumstances, we used Marxan software to identify priority areas for conservation outside oil blocks, but their coverage was insufficient to completely represent biodiversity. Instead, priority areas that include southern oil blocks provide a higher representation of biodiversity indicators. Therefore, preserving the southern Amazon becomes essential to improve the protection of Amazonian biodiversity in Ecuador, and avoiding oil exploitation in these areas (33% of the extent of southern oil blocks) should be considered a conservation alternative. Also, it is highly recommended to improve current oil exploitation technology to reduce environmental impacts in the region, especially within five oil blocks that we identified as most valuable for the conservation of biodiversity. The application of these and other recommendations depends heavily on the Ecuadorian government, which needs to find a better balance between the use of the Amazon resources and biodiversity conservation.     

Effect of hearing AIDS on auditory function in infants with perinatal brain injury and severe hearing loss

Background

Approximately 2–4% of newborns with perinatal risk factors present with hearing loss. Our aim was to analyze the effect of hearing aid use on auditory function evaluated based on otoacoustic emissions (OAEs), auditory brain responses (ABRs) and auditory steady state responses (ASSRs) in infants with perinatal brain injury and profound hearing loss.

Methodology/Principal Findings

A prospective, longitudinal study of auditory function in infants with profound hearing loss. Right side hearing before and after hearing aid use was compared with left side hearing (not stimulated and used as control). All infants were subjected to OAE, ABR and ASSR evaluations before and after hearing aid use. The average ABR threshold decreased from 90.0 to 80.0 dB (p = 0.003) after six months of hearing aid use. In the left ear, which was used as a control, the ABR threshold decreased from 94.6 to 87.6 dB, which was not significant (p>0.05). In addition, the ASSR threshold in the 4000-Hz frequency decreased from 89 dB to 72 dB (p = 0.013) after six months of right ear hearing aid use; the other frequencies in the right ear and all frequencies in the left ear did not show significant differences in any of the measured parameters (p>0.05). OAEs were absent in the baseline test and showed no changes after hearing aid use in the right ear (p>0.05).

Conclusions/Significance

This study provides evidence that early hearing aid use decreases the hearing threshold in ABR and ASSR assessments with no functional modifications in the auditory receptor, as evaluated by OAEs.     

NeuN/Fox-3 is an intrinsic component of the neuronal nuclear matrix

NeuN is an antigen detected in the nucleus of neurons in a wide range of vertebrates and so it is widely used as a tool for detecting neuronal cells. NeuN has been recently identified as Fox-3, a new member of the Fox-1 gene family of splicing factors. The predominant localization of NeuN/Fox-3 to neuronal nuclei and its role in splicing pose the question of the nuclear compartmentalization of such a protein. Here we provide evidence that NeuN/Fox-3 is an intrinsic component of the neuronal nuclear matrix and a reliable marker of nuclear speckles in neurons.

Structured summary

MINT-7890176: Fox-3 (uniprotkb:B7ZC13) and Splicing factor SC35 (uniprotkb:Q6PDU1) colocalize (MI:0403) by fluorescence microscopy (MI:0416)