59 research outputs found

    Success rates of zygomatic implants for the rehabilitation of severely atrophic maxilla: a systematic review

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    Zygomatic implants are a treatment solution for patients with severe maxillary atrophy. This treatment option allows delivering immediate fixed teeth within 24 h. Numerous peer-reviewed publications have reported different success rates, resulting in a disagreement on the topic. Therefore, the overall efficacy and predictability of this rehabilitation is still a matter of discussion. With this study, we aimed to identify the published literature on the use of zygomatic implants for the reconstruction of the severely atrophic maxilla and report the cumulative success rate (CSR) as a function of follow-up time. A systematic review of the literature on zygomatic implant for the treatment of severe maxillary atrophy was performed and 196 publications were included in the study. The cumulative success rate of zygomatic implants for the treatment of severe maxillary atrophy was 98.5% at less than 1 year, 97.5% between 1 and 3 years, 96.8% between 3 and 5 years and 96.1% after more than 5 years. The most commonly reported complications were soft tissue dehiscence, rhinosinusitis and prosthetic failures. The treatment of severe lack of bone in the upper maxilla with zygomatic implants is a safe procedure, reaching a cumulative success rate of 96.1% after more than 5 years

    Challenges associated with biomarker-based classification systems for Alzheimer's disease

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    Altres ajuts: This work was also supported by research grants from the Carlos III Institute of Health, Spain and the CIBERNED program (Program 1, Alzheimer Disease to Alberto Lleó and SIGNAL study, www.signalstudy.es), partly funded by Fondo Europeo de Desarrollo Regional (FEDER), Unión Europea, "Una manera de hacer Europa". This work has also been supported by a "Marató TV3" grant (20141210 to Juan Fortea and 044412 to Rafael Blesa) and by Generalitat de Catalunya and a grant from the Fundació Bancaria La Caixa to Rafael Blesa. I. Illán-Gala is supported by the i-PFIS grant from the FIS, Instituto de Salud Carlos III and the Rio Hortega grant (CM17/00074) from "Acción estratégica en Salud 2013-2016" and the European Social Fund. USPHS NIH grants awarded to M.J.d.L. include: AG13616, AG022374, AG12101, and AG057570.We aimed to evaluate the consistency of the A/T/N classification system. We included healthy controls, mild cognitive impairment, and dementia patients from Alzheimer's disease Neuroimaging Initiative. We assessed subject classification consistency with different biomarker combinations and the agreement and correlation between biomarkers. Subject classification discordance ranged from 12.2% to 44.5% in the whole sample; 17.3%-46.4% in healthy controls; 11.9%-46.5% in mild cognitive impairment, and 1%-35.7% in dementia patients. Amyloid, but not neurodegeneration biomarkers, showed good agreement both in the whole sample and in the clinical subgroups. Amyloid biomarkers were correlated in the whole sample, but not along the Alzheimer's disease continuum (as defined by a positive amyloid positron emission tomography). Neurodegeneration biomarkers were poorly correlated both in the whole sample and along the Alzheimer's disease continuum. The relationship between biomarkers was stage-dependent. Our findings suggest that the current A/T/N classification system does not achieve the required consistency to be used in the clinical setting

    Basal forebrain atrophy along the Alzheimer's disease continuum in adults with Down syndrome

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    Background: Basal forebrain (BF) degeneration occurs in Down syndrome (DS)-associated Alzheimer's disease (AD). However, the dynamics of BF atrophy with age and disease progression, its impact on cognition, and its relationship with AD biomarkers have not been studied in DS. Methods: We included 234 adults with DS (150 asymptomatic, 38 prodromal AD, and 46 AD dementia) and 147 euploid controls. BF volumes were extracted from T-weighted magnetic resonance images using a stereotactic atlas in SPM12. We assessed BF volume changes with age and along the clinical AD continuum and their relationship to cognitive performance, cerebrospinal fluid (CSF) and plasma amyloid/tau/neurodegeneration biomarkers, and hippocampal volume. Results: In DS, BF volumes decreased with age and along the clinical AD continuum and significantly correlated with amyloid, tau, and neurofilament light chain changes in CSF and plasma, hippocampal volume, and cognitive performance. Discussion: BF atrophy is a potentially valuable neuroimaging biomarker of AD-related cholinergic neurodegeneration in DS

    Analysis of the P. lividus sea urchin genome highlights contrasting trends of genomic and regulatory evolution in deuterostomes

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    Sea urchins are emblematic models in developmental biology and display several characteristics that set them apart from other deuterostomes. To uncover the genomic cues that may underlie these specificities, we generated a chromosome-scale genome assembly for the sea urchin Paracentrotus lividus and an extensive gene expression and epigenetic profiles of its embryonic development. We found that, unlike vertebrates, sea urchins retained ancestral chromosomal linkages but underwent very fast intrachromosomal gene order mixing. We identified a burst of gene duplication in the echinoid lineage and showed that some of these expanded genes have been recruited in novel structures (water vascular system, Aristotle's lantern, and skeletogenic micromere lineage). Finally, we identified gene-regulatory modules conserved between sea urchins and chordates. Our results suggest that gene-regulatory networks controlling development can be conserved despite extensive gene order rearrangement

    Family Size Evolution in Drosophila Chemosensory Gene Families: A Comparative Analysis with a Critical Appraisal of Methods

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    Gene turnover rates and the evolution of gene family sizes are important aspects of genome evolution. Here, we use curated sequence data of the major chemosensory gene families from Drosophila-the gustatory receptor, odorant receptor, ionotropic receptor, and odorant-binding protein families-to conduct a comparative analysis among families, exploring different methods to estimate gene birth and death rates, including an ad hoc simulation study. Remarkably, we found that the state-of-the-art methods may produce very different rate estimates, which may lead to disparate conclusions regarding the evolution of chemosensory gene family sizes in Drosophila. Among biological factors, we found that a peculiarity of D. sechellia's gene turnover rates was a major source of bias in global estimates, whereas gene conversion had negligible effects for the families analyzed herein. Turnover rates vary considerably among families, subfamilies, and ortholog groups although all analyzed families were quite dynamic in terms of gene turnover. Computer simulations showed that the methods that use ortholog group information appear to be the most accurate for the Drosophila chemosensory families. Most importantly, these results reveal the potential of rate heterogeneity among lineages to severely bias some turnover rate estimation methods and the need of further evaluating the performance of these methods in a more diverse sampling of gene families and phylogenetic contexts. Using branch-specific codon substitution models, we find further evidence of positive selection in recently duplicated genes, which attests to a nonneutral aspect of the gene birth-and-death process

    Superhydrophobic paper in the development of disposable labware and lab-on-paper devices

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    Traditionally in superhydrophobic surfaces history, the focus has frequently settled on the use of complex processing methodologies using nonbiodegradable and costly materials. In light of recent events on lab-on-paper emergence, there are now some efforts for the production of superhydrophobic paper but still with little development and confined to the fabrication of flat devices. This work gives a new look at the range of possible applications of bioinspired superhydrophobic paper-based substrates, obtained using a straightforward surface modification with poly(hydroxybutyrate). As an end-of-proof of the possibility to create lab-on-chip portable devices, the patterning of superhydrophobic paper with different wettable shapes is shown with low-cost approaches. Furthermore, we suggest the use of superhydrophobic paper as an extremely low-cost material to design essential nonplanar lab apparatus, including reservoirs for liquid storage and manipulation, funnels, tips for pipettes, or accordion-shaped substrates for liquid transport or mixing. Such devices take the advantage of the self-cleaning and extremely water resistance properties of the surfaces as well as the actions that may be done with paper such as cut, glue, write, fold, warp, or burn. The obtained substrates showed lower propensity to adsorb proteins than the original paper, kept superhydrophobic character upon ethylene oxide sterilization and are disposable, suggesting that the developing devices could be especially adequate for use in contact with biological and hazardous materials

    The era of reference genomes in conservation genomics

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    Classification and function of small open reading frames

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    Small open reading frames (smORFs) of 100 codons or fewer are usually - if arbitrarily - excluded from proteome annotations. Despite this, the genomes of many metazoans, including humans, contain millions of smORFs, some of which fulfil key physiological functions. Recently, the transcriptome of Drosophila melanogaster was shown to contain thousands of smORFs of different classes that actively undergo translation, which produces peptides of mostly unknown function. Here, we present a comprehensive analysis of smORFs in flies, mice and humans. We propose the existence of several functional classes of smORFs, ranging from inert DNA sequences to transcribed and translated cis-regulators of translation and peptides with a propensity to function as regulators of membrane-associated proteins, or as components of ancient protein complexes in the cytoplasm. We suggest that the different smORF classes could represent steps in gene, peptide and protein evolution. Our analysis introduces a distinction between different peptide-coding classes of smORFs in animal genomes, and highlights the role of model organisms for the study of small peptide biology in the context of development, physiology and human disease

    Gene expression clines reveal local adaptation and associated trade-offs at a continental scale

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    Local adaptation, where fitness in one environment comes at a cost in another, should lead to spatial variation in trade-offs between life history traits and may be critical for population persistence. Recent studies have sought genomic signals of local adaptation, but often have been limited to laboratory populations representing two environmentally different locations of a species' distribution. We measured gene expression, as a proxy for fitness, in males of Drosophila subobscura, occupying a 20° latitudinal and 11 °C thermal range. Uniquely, we sampled six populations and studied both common garden and semi-natural responses to identify signals of local adaptation. We found contrasting patterns of investment: transcripts with expression positively correlated to latitude were enriched for metabolic processes, expressed across all tissues whereas negatively correlated transcripts were enriched for reproductive processes, expressed primarily in testes. When using only the end populations, to compare our results to previous studies, we found that locally adaptive patterns were obscured. While phenotypic trade-offs between metabolic and reproductive functions across widespread species are well-known, our results identify underlying genetic and tissue responses at a continental scale that may be responsible for this. This may contribute to understanding population persistence under environmental change

    Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination

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    The nematode Caenorhabditis briggsae is an emerging model organism that allows evolutionary comparisons with C. elegans and exploration of its own unique biological attributes. To produce a high-resolution C. briggsae recombination map, recombinant inbred lines were generated from reciprocal crosses between two strains and genotyped at over 1,000 loci. A second set of recombinant inbred lines involving a third strain was also genotyped at lower resolution. The resulting recombination maps exhibit discrete domains of high and low recombination, as in C. elegans, indicating these are a general feature of Caenorhabditis species. The proportion of a chromosome's physical size occupied by the central, low-recombination domain is highly correlated between species. However, the C. briggsae intra-species comparison reveals striking variation in the distribution of recombination between domains. Hybrid lines made with the more divergent pair of strains also exhibit pervasive marker transmission ratio distortion, evidence of selection acting on hybrid genotypes. The strongest effect, on chromosome III, is explained by a developmental delay phenotype exhibited by some hybrid F2 animals. In addition, on chromosomes IV and V, cross direction-specific biases towards one parental genotype suggest the existence of cytonuclear epistatic interactions. These interactions are discussed in relation to surprising mitochondrial genome polymorphism in C. briggsae, evidence that the two strains diverged in allopatry, the potential for local adaptation, and the evolution of Dobzhansky-Muller incompatibilities. The genetic and genomic resources resulting from this work will support future efforts to understand inter-strain divergence as well as facilitate studies of gene function, natural variation, and the evolution of recombination in Caenorhabditis nematodes
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