Search results for "feature"
showing 10 items of 4091 documents
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…
miRNA92a targets KLF2 and the phosphatase PTEN signaling to promote human T follicular helper precursors in T1D islet autoimmunity.
2016
Aberrant immune activation mediated by T effector cell populations is pivotal in the onset of autoimmunity in type 1 diabetes (T1D). T follicular helper (TFH) cells are essential in the induction of high-affinity antibodies, and their precursor memory compartment circulates in the blood. The role of TFH precursors in the onset of islet autoimmunity and signaling pathways regulating their differentiation is incompletely understood. Here, we provide direct evidence that during onset of islet autoimmunity, the insulin-specific target T-cell population is enriched with a C-X-C chemokine receptor type 5 (CXCR5)(+)CD4(+) TFH precursor phenotype. During onset of islet autoimmunity, the frequency o…
Distance of the alveolar antral artery from the alveolar crest. Related factors and surgical considerations in sinus floor elevation
2016
Background In a variable proportion of maxillary sinuses alveolar antral artery is located close to the residual ridge, increasing the chances for haemorrhagic complications during sinus floor elevation procedures. Material and Methods Retrospective observational study of CBCT explorations performed for implant-treatment planning. The upper first molar area was selected for this study. The relative uncertainty (standard deviation of the measurement divided by its mean and expressed as a percentage from 0% to 100%) was chosen for determining the observational errors. For modeling the chances of AAA detection, the generalized additive models (GAM) approach was chosen. Results A total of 240 m…
Automatic monitoring system for the detection and evaluation of the evolution of hemangiomas
2016
In this paper we introduce an automatic monitoring system for the detection and the evaluation of the evolution of hemangiomas using a fuzzy logic system based on two parameters: area and redness. We have considered pairs of images (from two different moments in time) that show hemangiomas either evolving, stationary or regressing. The starting points of the algorithm are the rectangular regions of interest (ROI), manually selected for each of the two images, and automatically segmented using Fuzzy C-means. Using the area and the redness of the hemagiomas extracted with Fuzzy C-means, for the same patient, at different moments of time, the algorithm decides whether the hemangioma is evolvin…
Flexible multi-beam light-sheet fluorescence microscope for live imaging without striping artifacts
2018
The development of light-sheet fluorescence microscopy (LSFM) has greatly expanded the experimental capabilities in many biological and biomedical research fields, enabling for example live studies of murine and zebrafish neural activity or of cell growth and division. The key feature of the method is the selective illumination of a sample single plane, providing an intrinsic optical sectioning and allowing direct 2D image recording. On the other hand, this excitation scheme is more affected by absorption or scattering artifacts in comparison to point scanning methods, leading to un-even illumination. We present here an easily implementable method, based on acousto-optical deflectors (AOD),…
Search for a Minimal Set of Parameters by Assessing the Total Optimization Potential for a Dynamic Model of a Biochemical Network.
2017
Selecting an efficient small set of adjustable parameters to improve metabolic features of an organism is important for a reduction of implementation costs and risks of unpredicted side effects. In practice, to avoid the analysis of a huge combinatorial space for the possible sets of adjustable parameters, experience-, and intuition-based subsets of parameters are often chosen, possibly leaving some interesting counter-intuitive combinations of parameters unrevealed. The combinatorial scan of possible adjustable parameter combinations at the model optimization level is possible; however, the number of analyzed combinations is still limited. The total optimization potential (TOP) approach is…
Settlement performance of the Mediterranean reef-builders Dendropoma cristatum (Biondi 1859) in response to natural bacterial films.
2017
The gastropod Dendropoma cristatum is a biogenic engineer of the central Mediterranean, forming reefs along the lower rocky intertidal fringe with a remarkable ecological role. To understand whether reef-associated biofilm cultivable bacterial and biofilm ageing may trigger the settlement of the juvenile snails, a combination of laboratory techniques and field experiments was used. Reef-associated biofilm cultivable bacteria were isolated, and a settlement-choice experiment was performed in situ on artificial biofilms composed of i) a mixture of six biofilm-forming selected isolates, ii) all the cultivable bacteria, and iii) 13-, 23-, 32-day old biofilms formed under natural conditions. Ove…
The spread of steppe and Iranian-related ancestry in the islands of the western Mediterranean
2020
Steppe-pastoralist-related ancestry reached Central Europe by at least 2500 bc, whereas Iranian farmer-related ancestry was present in Aegean Europe by at least 1900 bc. However, the spread of these ancestries into the western Mediterranean, where they have contributed to many populations that live today, remains poorly understood. Here, we generated genome-wide ancient-DNA data from the Balearic Islands, Sicily and Sardinia, increasing the number of individuals with reported data from 5 to 66. The oldest individual from the Balearic Islands (~2400 bc) carried ancestry from steppe pastoralists that probably derived from west-to-east migration from Iberia, although two later Balearic individ…
Eighteen-Year Farming Management Moderately Shapes the Soil Microbial Community Structure but Promotes Habitat-Specific Taxa
2018
Soil microbes have critical influence on the productivity and sustainability of agricultural ecosystems, yet the magnitude and direction to which management practices affect the soil microbial community remain unclear. This work aimed to examine the impacts of three farming systems, conventional grain cropping (CON), organic grain cropping (ORG), and grain cropping-pasture rotation (ICL), on the soil microbial community structure and putative gene abundances of N transformations using high-throughput 16S rRNA gene and ITS sequencing approaches. Two additional systems, a forest plantation (PF) and an abandoned agricultural field subject to natural succession (SUC), were also included for bet…
Nitrogen Loss from Pristine Carbonate-Rock Aquifers of the Hainich Critical Zone Exploratory (Germany) Is Primarily Driven by Chemolithoautotrophic A…
2017
Despite the high relevance of anaerobic ammonium oxidation (anammox) for nitrogen loss from marine systems, its relative importance compared to denitrification has less been studied in freshwater ecosystems, and our knowledge is especially scarce for groundwater. Surprisingly, phospholipid fatty acids (PLFA)-based studies identified zones with potentially active anammox bacteria within two superimposed pristine limestone aquifer assemblages of the Hainich Critical Zone Exploratory (CZE; Germany). We found anammox to contribute an estimated 83% to total nitrogen loss in suboxic groundwaters of these aquifer assemblages at rates of 3.5-4.7 nmol L -1 d -1, presumably favored over denitrificati…