40 research outputs found

    Perturbation of quadrics

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    The aim of this paper is to study what happens when a slight perturbation affects the coefficients of a quadratic equation defining a variety (a quadric) in R^n. Structurally stable quadrics are those a small perturbation on the coefficients of the equation defining them does not give rise to a "different" (in some sense) set of points. In particular we characterize structurally stable quadrics and give the "bifurcation diagrams" of the non stable ones (showing which quadrics meet all of their neighbourhoods), when dealing with the "affine" and "metric" equivalence relations. This study can be applied to the case where a set of points which constitute the set of solutions of a problem is deffined by a quadratic equation whose coefficients are given with parameter uncertainty

    Morfologia i formació del complexe sinaptinèmic a espermatòcits i oòcits de Mus musculus

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    A method for the sequential study of synaptonemal complexes by light and electron microscopy has been used to characterize the synaptic process in mouse (Mus musculus) spermatocytes and oocytes. Pre- and post-synaptic figures can be easily identified

    [Capítulos, ordenanzas, etc. del Ofici de Corredors de Coll de Valencia y de la Cofradia del mismo, llamada de la Verge Maria dels Dolors] [Manuscrito].]

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    Algunas capitales decoradas a col.Texto en valenciano y latín.Faltan las h. de I a VIII y de LII a LXIII.Títulos de los cap. en rojo

    [Capítulos, ordenanzas, etc. del Ofici de Corredors de Coll de Valencia y de la Cofradia del mismo, llamada de la Verge Maria dels Dolors] [Manuscrito].]

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    Algunas capitales decoradas a col.Texto en valenciano y latín.Faltan las h. de I a VIII y de LII a LXIII.Títulos de los cap. en rojo

    Morfologia i formació del complexe sinaptinèmic a espermatòcits i oòcits de Mus musculus

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    A method for the sequential study of synaptonemal complexes by light and electron microscopy has been used to characterize the synaptic process in mouse (Mus musculus) spermatocytes and oocytes. Pre- and post-synaptic figures can be easily identified

    Effects of industrial pollution on the reproductive biology of Squalius laietanus (Actinopterygii, Cyprinidae) in a Mediterranean stream (NE Iberian Peninsula)

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    Mediterranean rivers are severely affected by pollutants from industry, agriculture and urban activities. In this study, we examined how industrial pollutants, many of them known to act as endocrine disruptors (EDCs), could disturb the reproduction of the Catalan chub (Squalius laietanus). The survey was conducted throughout the reproductive period of S. laietanus (from March to July 2014) downstream an industrial WWTP located in the River Ripoll (NE Iberian Peninsula). Eighty fish (28 females and 52 males) were caught by electrofishing upstream and 77 fish (33 females and 44 males) downstream a WWTP. For both sexes, the gonadosomatic index (GSI) and gonadal histology were examined and related to water chemical analysis and fish biomarkers. Female fecundity was assessed using the gravimetric method. Fish from the polluted site showed enhanced biomarker responses involved in detoxification. Also, in the polluted site, lower GSI values were attained in both sexes and females displayed lower numbers of vitellogenic oocytes. Gonadal histology showed that allmaturation stages of testicles and ovaries were present at the two study sites but fish males from the polluted site had smaller diameter seminiferous tubules. Water chemical analysis confirmed greater presence of EDCs in the river downstream the industrial WWTP. The chemicals benzotriazole and benzothiazole could be partially responsible for the observed alterations in the reproductive biology of S. laietanus

    A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

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    Altres ajuts: Fundació Parc Taulí - Institut Universitari UAB CIR2009/33 i CIR2010/034Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance

    Prognostic heterogeneity of adult B-cell precursor acute lymphoblastic leukaemia patients with t(1;19)(q23;p13)/TCF3-PBX1 treated with measurable residual disease-oriented protocols

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    Programa para el Tratamiento de Hemopatias Malignas (PETHEMA) Group (Spanish Society of Hematology, SEHH).The prognosis of t(1;19)(q23;p13)/transcription factor 3-pre-B-cell leukaemia homeobox 1 (TCF3-PBX1) in adolescent and adult patients with acute lymphoblastic leukaemia (ALL) treated with measurable residual disease (MRD)-oriented trials remains controversial. In the present study, we analysed the outcome of adolescent and adult patients with t(1;19)(q23;p13) enrolled in paediatric-inspired trials. The patients with TCF3-PBX1 showed similar MRD clearance and did not have different survival compared with other B-cell precursor ALL patients. However, patients with TCF3-PBX1 had a significantly higher cumulative incidence of relapse, especially among patients aged ≥35 years carrying additional cytogenetic alterations. These patients might benefit from additional/intensified therapy (e.g. immunotherapy in first complete remission with or without subsequent haematopoietic stem cell transplantation).This work was supported in part by CERCA/Generalitat de Catalunya SGR 2017 288 (GRC), a restricted grant from ‘La Caixa’ and Healthcare Alliance for Resourceful Medicine Offensive against Neoplasms (HARMONY)

    Prognostic heterogeneity of adult B‐cell precursor acute lymphoblastic leukaemia patients with t(1;19)(q23;p13)/ TCF3‐PBX1 treated with measurable residual disease‐oriented protocols

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    The prognosis of t(1;19)(q23;p13)/transcription factor 3-pre-B-cell leukaemia homeobox 1 (TCF3-PBX1) in adolescent and adult patients with acute lymphoblastic leukaemia (ALL) treated with measurable residual disease (MRD)-oriented trials remains controversial. In the present study, we analysed the outcome of adolescent and adult patients with t(1;19)(q23;p13) enrolled in paediatric-inspired trials. The patients with TCF3-PBX1 showed similar MRD clearance and did not have different survival compared with other B-cell precursor ALL patients. However, patients with TCF3-PBX1 had a significantly higher cumulative incidence of relapse, especially among patients aged ≥35 years carrying additional cytogenetic alterations. These patients might benefit from additional/intensified therapy (e.g. immunotherapy in first complete remission with or without subsequent haematopoietic stem cell transplantation)

    European LeukemiaNet 2017 risk stratification for acute myeloid leukemia: validation in a risk-adapted protocol

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    The 2017 European LeukemiaNet (ELN 2017) guidelines for the diagnosis and management of acute myeloid leukemia (AML) have become fundamental guidelines to assess the prognosis and postremission therapy of patients. However, they have been retrospectively validated in few studies with patients included in different treatment protocols. We analyzed 861 patients included in the Cooperativo Para el Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias-12 risk-adapted protocol, which indicates cytarabine-based consolidation for patients allocated to the ELN 2017 favorable-risk group, whereas it recommends allogeneic stem cell transplantation (alloSCT) as a postremission strategy for the ELN 2017 intermediateand adverse-risk groups. We retrospectively classified patients according to the ELN 2017, with 327 (48%), 109 (16%), and 245 (36%) patients allocated to the favorable-, intermediate-, and adverse-risk group, respectively. The 2- and 5-year overall survival (OS) rates were 77% and 70% for favorable-risk patients, 52% and 46% for intermediate-risk patients, and 33% and 23% for adverse-risk patients, respectively. Furthermore, we identified a subgroup of patients within the adverse group (inv(3)/t(3;3), complex karyotype, and/or TP53 mutation/17p abnormality) with a particularly poor outcome, with a 2-year OS of 15%. Our study validates the ELN 2017 risk stratification in a large cohort of patients treated with an ELN-2017 risk-adapted protocol based on alloSCT after remission for nonfavorable ELN subgroups and identifies a genetic subset with a very poor outcome that warrants investigation of novel strategies
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