88 research outputs found
Dysplastic nevus syndrome (DNS)
Review on Dysplastic nevus syndrome (DNS), with data on clinics, and the genes involved
Epidermodysplasia verruciformis
Review on Epidermodysplasia verruciformis, with data on clinics, and the genes involved
Development of Numerical Algorithms for Practical Com- putation of Nonlinear Normal Modes
Abstract When resorting to numerical algorithms, we show that nonlinear normal mode (NNM) computation is possible with limited implementation effort, which paves the way to a practical method for determining the NNMs of nonlinear mechanical systems. The proposed method relies on two main techniques, namely a shooting procedure and a method for the continuation of NNM motions. In addition, sensitivity analysis is used to reduce the computational burden of the algorithm. A simplified discrete model of a nonlinear bladed disk is considered to demonstrate the developments
Thulium and ytterbium-doped titania thin films deposited by MOCVD
In this study we synthesized thin films of titanium oxide doped with thulium
and/or ytterbium to modify the incident spectrum on the solar cells. This could
be achieved either by photoluminescence up-converting devices, or
down-converting devices. As down-converter thin films our work deals with
thulium and ytterbium-doped titanium dioxide. Thulium and ytterbium will act as
sensitizer and emitter, respectively. The rare-earth doped thin films are
deposited by aerosol-assisted MOCVD using organo-metallic precursors such as
titanium dioxide acetylacetonate, thulium and ytterbium
tetramethylheptanedionate solved in different solvents. These films have been
deposited on silicon substrates under different deposition conditions
(temperature and dopant concentrations for example). Adherent films have been
obtained for deposition temperatures ranging from 300{\deg}C to 600{\deg}C. The
deposition rate varies from 0.1 to 1 \mu m/h. The anatase phase is obtained at
substrate temperature above 400{\deg}C. Further annealing is required to
exhibit luminescence and eliminate organic remnants of the precursors. The
physicochemical and luminescent properties of the deposited films were analyzed
versus the different deposition parameters and annealing conditions. We showed
that absorbed light in the near-UV blue range is re-emitted by the ytterbium at
980 nm and by a thulium band around 800 nm.Comment: 4 pages, 6 figures, proceedin
Haematological and biochemical parameters in Churra-da-Terra-Quente ewes from the northeast of Portugal
Hematological and biochemical parameters, including plasma electrolytes and thyroid hormones, were determined in 73 clinically healthy Churra-da-Terra-Quente ewes, a typical breed from the northeast of Portugal. The hemogram values were: erythrocytes 9.8±1.51012/L; haemoglobin 118.1±19.1g/L; haematocrit 40.8±5.9%; leukocytes 5.7±1.8109/L; and platelets 544.3±177.2109/L. The thrombin time was 17.3±1.7 seconds. The values of biochemical parameters were: total protein 76.4±6.1g/L; glucose 2.87±0.60mmol/L; total cholesterol 1.65±0.33mmol/L; aspartate aminotransferase 155.9±49.2U/L; alanine aminotransferase 23.2±9.6U/L; γ-glutamyl transferase 48.0±18.7U/L; total alkaline phosphatase 121.6±76.1U/L; glutamate dehydrogenase 6.4±3.7U/L; urea 7.32±2.22mmol/L; creatinine 123.0±54.1μmol/L; total calcium 2.53±0.25mmol/L; phosphorus 2.10±0.46mmol/L; magnesium 1.01±0.09mmol/L; sodium 152.04±3.65mmol/L; potassium 4.7±0.4mmol/L; ionized calcium 1.32±0.07mmol/L; total thyroxine 111.75±42.29nmol/L; total triiodothyronine 1.01±0.28nmol/L; free T4 11.93±1.78pmol/L; free T3 4.22±1.33pmol/L; and thyroid-stimulating hormone 0.18±0.19μIU/mL. Although differences among the Churra-da-Terra-Quente breed and other breeds may occur, the hematological and biochemical parameters, plasma electrolytes, and thyroid hormones, for this indigenous breed, were generally situated within the reference intervals previously reported for sheep
SHANK3 controls maturation of social reward circuits in the VTA.
Haploinsufficiency of SHANK3, encoding the synapse scaffolding protein SHANK3, leads to a highly penetrant form of autism spectrum disorder. How SHANK3 insufficiency affects specific neural circuits and how this is related to specific symptoms remains elusive. Here we used shRNA to model Shank3 insufficiency in the ventral tegmental area of mice. We identified dopamine (DA) and GABA cell-type-specific changes in excitatory synapse transmission that converge to reduce DA neuron activity and generate behavioral deficits, including impaired social preference. Administration of a positive allosteric modulator of the type 1 metabotropic glutamate receptors mGluR1 during the first postnatal week restored DA neuron excitatory synapse transmission and partially rescued the social preference defects, while optogenetic DA neuron stimulation was sufficient to enhance social preference. Collectively, these data reveal the contribution of impaired ventral tegmental area function to social behaviors and identify mGluR1 modulation during postnatal development as a potential treatment strategy
DKC1 (dyskeratosis congenita 1, dyskerin)
Review on DKC1 (dyskeratosis congenita 1, dyskerin), with data on DNA, on the protein encoded, and where the gene is implicated
Dyskeratosis congenita (DKC)
Review on Dyskeratosis congenita (DKC), with data on clinics, and the genes involved
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