Search results for " Spots"
showing 10 items of 19 documents
Capability assessment of the SEVIRI/MSG GPP product for the detection of areas affected by water stress
2020
[ES] Se presenta el nuevo producto de producción primaria bruta (GPP) de EUMETSAT derivado a partir de datos del satélite geoestacionario SEVIRI/MSG (MGPP LSA-411) y se evalúa su potencial para detectar zonas afectadas por estrés hídrico (hot spots). El producto GPP se basa en la aproximación de Monteith, que modela la GPP de la vegetación como el producto de la radiación fotosintéticamente activa (PAR) incidente, la fracción de PAR absorbida (fAPAR) y un factor de eficiencia de uso de la radiación (ε). El potencial del producto MGPP para detectar hot spots se evalúa, utilizando un periodo corto de tres años, a escala local y regional, comparando con datos in situ derivados de medidas en to…
Manifestations of the tongue in Neurofibromatosis type 1
2006
Objective: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. Subjects and methods: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. Results: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings wer…
One
2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
2022
Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. Case presentation We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. Conclusion Vasculop…
Correlated gluonic hot spots meet symmetric cumulants data at LHC energies
2019
We present a systematic study on the influence of spatial correlations between the proton constituents, in our case gluonic hot spots, their size and their number on the symmetric cumulant SC(2, 3), at the eccentricity level, within a Monte Carlo Glauber framework [1]. When modeling the proton as composed by 3 gluonic hot spots, the most common assumption in the literature, we find that the inclusion of spatial correlations is indispensable to reproduce the negative sign of SC(2, 3) in the highest centrality bins as dictated by data. Further, the subtle interplay between the different scales of the problem is discussed. To conclude, the possibility of feeding a 2+1D viscous hydrodynamic sim…
Making white spots disappear! Do minimally invasive treatments improve incisor opacities in children with molar-incisor hypomineralisation?
2022
BACKGROUND Children with molar incisor hypomineralisation (MIH) frequently seek aesthetic treatment for incisor opacities. Surprisingly few studies have evaluated the clinical success of such interventions. AIM To quantify the effectiveness of minimally invasive treatments in reducing enamel opacity visibility in children with MIH. DESIGN This in-vitro study used digital clinical images of 23 children aged 8-16 years with MIH who underwent microabrasion and/or resin infiltration for management of incisor opacities. Standard images were taken pre- and six-months post-treatment. Image software (Image-Pro Plus®V7) was employed to convert 24-bit RGB images to 16-bit grey-scale and 45% magnifica…
Estrategias persuasivas en los anuncios de televenta
2013
Teleshopping spots represent a paradigmatic example of argumentative and perlocutionary discourse. In them, the creative adopts different strategies in order that the target feels irresistibly attracted by the object he advertises. In this paper we analyze all the elements that, because of their individual discoursive nature, but especially due to their mutual interaction, convert an apparently informative speech into an efficient tool of seduction. Los anuncios de televenta representan un ejemplo paradigmático de discurso argumentativo y perlocutivo. En ellos, el creativo adopta estrategias diferentes con el objetivo de que el interlocutor se sienta irresistiblemente atraído por el bien pu…
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classifi…
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
2013
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…
Evaluation of diode laser application on chemical analysis and surface microhardness of white spots enamel lesions with two remineralizing agents
2020
Background To investigate the effect of diode laser application and two commercial remineralizing agents on the remineralization and surface microhardness of white spot enamel lesions. Material and methods Sixty specimens were prepared then equally divided into six groups (n=10/group), according to the diode laser and the two commercial remineralizing agents applied to demineralized enamel surfaces (APF gel and sodium fluoride NaF mousse) with or without diode Laser application as follows; Group A; control, Group B; diode Laser application, Group C; APF gel application, Group D; NaF mousse application, Group E; APF gel application + diode Laser, Group F; NaF mousse application+ diode Laser.…