44 research outputs found

    Controls on modern tributary-junction alluvial fan occurrence and morphology: High Atlas Mountains, Morocco

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    Modern tributary-junction alluvial fans (cone-shaped depositional landforms formed in confined valley settings) were analysed from a 20-km-long reach of the Dades River in the distal part of the fold-thrust belt region in the south-central High Atlas Mountains of Morocco. Here, a deeply dissected network of ephemeral tributary streams and a perennial trunk drainage characterised by an arid mountain desert climate are configured onto a folded and thrust faulted Mesozoic sedimentary sequence. Out of 186 tributary streams, only 29 (16%) generated alluvial fans at their tributary junctions. The fan-generating catchments possess higher relief, longer lengths, lower gradients, and larger areas than nonfan-generating catchments. Whilst geologically, fan-generating catchments are underlain by folded / steeply dipping weak bedrock conducive to high sediment yield. Tributary-junction fans are built from debris flow or fluvial processes into open or confined canyon trunk valley settings. The proximity of the perennial trunk drainage combined with the valley morphology produces lobate or foreshortened trimmed fan forms. Analysis of fan (area, gradient, process), catchment (area, relief, length, gradient), and tributary valley (width) variables reveals weak morphometric relationships, highlighted by residual plots that show dominance of smaller and lower gradient than expected fan forms. These morphometric relationships can be explained by interplay between the catchment and trunk drainage geology, morphology, climate, and flood regime that are combined into a conceptual ‘build and reset’ model. Ephemeral tributary-junction fans develop progressively during annual localised winter-spring storm events, attempting to build toward a morphological equilibrium. However, the fans never reach an equilibrium morphological form as they are reset by rare (>10 year) large floods along the River Dades that are linked to regional incursions of Atlantic low pressure troughs. The model highlights the spatial and temporal variability of tributary-junction fan building and illustrates the connectivity / coupling importance of such features in dryland mountainous terrains

    Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

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    Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was performed using single nucleotide polymorphism (SNP) microarrays. Whole-exome sequencing was completed on genomic DNA from one affected member of each family. Exome sequence data were also used for homozygosity mapping and copy number variation analysis. PCR and Sanger sequencing were used to confirm the identification of mutations and to screen further patients. Evolutionary conservation of protein sequences was assessed using CLUSTALW, and protein structures were modeled using PyMol. Results: In family MEP68, a novel homozygous nucleotide substitution in SIX6 was found, c.547G>C, that converts the evolutionarily conserved aspartic acid residue at the 183rd amino acid in the protein to a histidine, p.(Asp183His). This residue mapped to the third helix of the DNA-binding homeobox domain in SIX6, which interacts with the major groove of double-stranded DNA. This interaction is likely to be disrupted by the mutation. In family F1332, a novel homozygous 1034 bp deletion that encompasses the first exon of SIX6 was identified, chr14:g.60975890_60976923del. Both mutations segregated with the disease phenotype as expected for a recessive condition and were absent from publicly available variant databases. Conclusions: Our findings expand the mutation spectrum in this form of inherited eye disease and confirm that homozygous human SIX6 mutations cause a developmental spectrum of ocular phenotypes that includes not only the previously described features of microphthalmia, coloboma, and congenital cataract but also corneal abnormalities

    Untargeted mass spectrometry lipidomics identifies correlation between serum sphingomyelins and plasma cholesterol

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    Background Lipoproteins are major players in the development and progression of atherosclerotic plaques leading to coronary stenosis and myocardial infarction. Epidemiological, genetic and experimental observations have implicated the association of sphingolipids and intermediates of sphingolipid synthesis in atherosclerosis. We aimed to investigate relationships between quantitative changes in serum sphingolipids, the regulation of the metabolism of lipoproteins (LDL, HDL), and endophenotypes of coronary artery disease (CAD). Methods We carried out untargeted liquid chromatography – mass spectrometry (UPLC-MS) lipidomics of serum samples of subjects belonging to a cross-sectional study and recruited on the basis of absence or presence of angiographically-defined CAD, and extensively characterized for clinical and biochemical phenotypes. Results Among the 2998 spectral features detected in the serum samples, 1328 metabolic features were significantly correlated with at least one of the clinical or biochemical phenotypes measured in the cohort. We found evidence of significant associations between 34 metabolite signals, corresponding to a set of sphingomyelins, and serum HDL cholesterol. Many of these metabolite associations were also observed with serum LDL and total cholesterol levels but not as much with serum triglycerides. Conclusion Among patients with CAD, sphingolipids in the form of sphingomyelins are directly correlated with serum levels of lipoproteins and total cholesterol. Results from this study support the fundamental role of sphingolipids in modulating lipid serum levels, highlighting the importance to identify novel targets in the sphingolipid metabolic pathway for anti-atherogenic therapies

    Causes of Adverse Pregnancy Outcomes and the Role of Maternal Periodontal Status – A Review of the Literature

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    Preterm (PT) and Low birth weight (LBW) are considered to be the most relevant biological determinants of newborn infants survival, both in developed and in developing countries. Numerous risk factors for PT and LBW have been defined in the literature. Infections of the genitourinary tract infections along with various biological and genetic factors are considered to be the most common etiological factors for PT/LBW deliveries. However, evidence suggests that sub-clinical infection sites that are also distant from the genitor-urinary tract may be an important cause for PT/LBW deliveries. Maternal periodontal status has also been reported by many authors as a possible risk factor for PT and LBW, though not all of the actual data support such hypothesis. The aim of this paper is to review the evidence from various published literature on the association between the maternal periodontal status and adverse pregnancy outcomes. Although this review found a consistent association between periodontitis and PT/LBW, this finding should be treated with great caution until the sources of heterogeneity can be explained

    Beyond the "Code": A Guide to the Description and Documentation of Biodiversity in Ciliated Protists (Alveolata, Ciliophora)

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    © 2017 The International Society of Protistologists.Recent advances in molecular technology have revolutionized research on all aspects of the biology of organisms, including ciliates, and created unprecedented opportunities for pursuing a more integrative approach to investigations of biodiversity. However, this goal is complicated by large gaps and inconsistencies that still exist in the foundation of basic information about biodiversity of ciliates. The present paper reviews issues relating to the taxonomy of ciliates and presents specific recommendations for best practice in the observation and documentation of their biodiversity. This effort stems from a workshop that explored ways to implement six Grand Challenges proposed by the International Research Coordination Network for Biodiversity of Ciliates (IRCN-BC). As part of its commitment to strengthening the knowledge base that supports research on biodiversity of ciliates, the IRCN-BC proposes to populate The Ciliate Guide, an online database, with biodiversity-related data and metadata to create a resource that will facilitate accurate taxonomic identifications and promote sharing of data

    ‘The Accumulation of Stone Age Lithic Artifacts in Rock Fragment Mulches in Northern Ethiopia’

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    Lithic artifacts buried in the soil profile may be transported to the surface during tillage-induced kinetic sieving, differential erosion, or swell–shrink cycles of clays and become part of a rock fragment mulch. Archaeologically, these manifestations are recognized as surface scatters. Although artifacts at the soil surface are difficult to relate to the local stratigraphic context, surface assemblages may provide information on lithic industries and the archaeological significance of sparsely explored regions. Through in situ investigation of surface material in 60 1x1m2 plots in the Tembien district in the northern Ethiopian highlands, we show that rock fragment mulches can contain a significant number of lithic artifacts and we provide evidence for mid-Pleistocene occupation of a site. Considering that severe rill and gully erosion may be a threat to the archaeological heritage and that well-dated African Middle Stone Age sites are rare, we conclude that the region deserves more attention for archaeological research.status: publishe
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