La relevancia del caos en estrellas del halo local

Fil: Maffione, Nicolás P. Universidad Nacional de Río Negro. Sede Antina. Laboratorio de Procesamiento de Señales Aplicadas y Computación de Alto Rendimiento; Argentina.Fil: Gómez, Facundo A. Universidad de La Serena. Departamento de Física y Astronomía; Chile.Fil: Cincotta, Pablo M. Universidad Nacional de La Plata. Facultad de Ciencias Astronómicas y Geofísicas. IALP-UNLP-CONICET; Argentina.Fil: Giordano, Claudia G. Universidad Nacional de La Plata. Facultad de Ciencias Astronómicas y Geofísicas. IALP-UNLP-CONICET; Argentina.Fil: Maffione, Nicolás P. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaWe show compelling numerical evidence that chaos is undoubtedly active in the local stellar halo, however, its effect might not be large enough to foster chaotic mixing processes that can erase crucial dynamical information to detect stellar streams that are necessary to rebuild the formation history of our galaxy. Therefore, the lack of positive identifications of such coherent substructures in the neighbourhood of the Sun seems to be given, at least at first order, to the lack of precision in the observations.Con el presente trabajo mostramos evidencia numérica que el caos, si bien indudablemente activo en el halo estelar local, no parece ser suficientemente abundante como para que los procesos de mezcla caótica puedan eliminar información dinámica esencial para la detección de corrientes estelares, necesarias para reconstruir la historia de formación de nuestra galaxia. Luego, la falta de identificaciones de estas subestructuras coherentes en la vecindad solar parece deberse, al menos a primer orden, a la falta de precisión en las observaciones

BRCA1 genetic testing in 106 breast and ovarian cancer families from southern Italy (Sicily): a mutation analyses.

PURPOSE: To evaluate the contribution of germline BRCA1 mutations in the incidence of hereditary and familial Breast Cancer (BC) and/or Ovarian Cancer (OC) in patients from Southern Italy (in the region of Sicily) and to identify a possible association between the higher frequency of BRCA1 mutations and a specific familial profile. EXPERIMENTAL DESIGN: A consecutive series of 650 patients with BC and/or OC diagnosed between 1999 and 2005 were recruited from the Southern Italian region of Sicily, after interview at the "Regional Reference Centre for the Characterization and Genetic Screening of Hereditary Tumors" at the University of Palermo. Genetic counselling allowed us to recruit a total of 106 unrelated families affected with breast and/or ovarian cancer screened for mutations occurring in the whole BRCA1 gene by automatic direct sequencing. RESULTS: Germline BRCA1 mutations were found in 17 of 106 (16%) Sicilian families. The HBOC profile had a major frequency (66%) of mutations (P < 0.01). A total of 28 sequence variants was identified. Seven of these were pathogenic, 5 unknown biological variant (UV) and 16 polymorphisms. We also identified a pathological mutation (4843delC) as a possible Sicilian founder mutation. CONCLUSIONS: The present study is the first BRCA1 disease-associated mutations analysis in Southern Italian families. The early age of onset of such tumors and the association with the HBOC familial profile could be two valid screening factors for the identification of BRCA1 mutation carriers. Finally, we identified a BRCA1 mutation with a possible founder effec

Adherence to growth hormone (GH) therapy in na\uefve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observational Study (ECOS)

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod\u2122 electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of na\uefve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children na\uefve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Results: Mean adherence rate was consistently above 85% across the 3-year observation period. Particularly, mean adherence was 88.5%, 86.6%, and 85.7% after 1, 2 and 3\ua0years, respectively. Mean (\ub1 SD) height-SDS increase after the first year was 0.41 (\ub1 0.38). Conclusions: The majority of na\uefve GHD children starting GH treatment with Easypod maintained an adherence rate > 85% up to 3\ua0years. Easypod is a useful tool to follow-up patients\u2019 adherence allowing timely intervention to improve optimal treatment for these patients

Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observational Study (ECOS)

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Results: Mean adherence rate was consistently above 85% across the 3-year observation period. Particularly, mean adherence was 88.5%, 86.6%, and 85.7% after 1, 2 and 3 years, respectively. Mean (± SD) height-SDS increase after the first year was 0.41 (± 0.38). Conclusions: The majority of naïve GHD children starting GH treatment with Easypod maintained an adherence rate > 85% up to 3 years. Easypod is a useful tool to follow-up patients’ adherence allowing timely intervention to improve optimal treatment for these patients

Liposomal doxorubicin supercharge-containing front-line treatment in patients with advanced-stage diffuse large B-cell lymphoma or classical Hodgkin lymphoma: Preliminary results of a single-centre phase II study

We evaluated the impact of liposomal doxorubicin (NPLD) supercharge-containing therapy on interim fluorodeoxyglucose positron emission tomography (interim-FDG-PET) responses in high-risk diffuse large B-cell lymphoma (DLBCL) or classical Hodgkin lymphoma (c-HL). In this phase II study (2016-2021), 81 adult patients with advanced-stage DLBCL (n&nbsp;=&nbsp;53) and c-HL (n&nbsp;=&nbsp;28) received front-line treatment with R-COMP-dose-intensified (DI) and MBVD-DI. R-COMP-DI consisted of 70 mg/m2 of NPLD plus standard rituximab, cyclophosphamide, vincristine and prednisone for three cycles (followed by three cycles with NPLD de-escalated at 50 mg/m2 ); MBVD-DI consisted of 35 mg/m2 of NPLD plus standard bleomycin, vinblastine and dacarbazine for two cycles (followed by four cycles with NPLD de-escalated at 25 mg/m2 ). Patients underwent R-COMP-DI and MBVD-DI with a median dose intensity of 91% and 94% respectively. At interim-FDG-PET, 72/81 patients (one failed to undergo interim-FDG-PET due to early death) had a Deauville score of ≤3. At end of treatment, 90% of patients reached complete responses. In all, 20 patients had Grade ≥3 adverse events, and four of them required hospitalisation. At a median 21-months of follow-up, the progression-free survival of the entire population was 77.3% (95% confidence interval 68%-88%). Our data suggest that the NPLD supercharge-driven strategy in high-risk DLBCL/c-HL may be a promising option to test in phase III trials, for improving negative interim-FDG-PET cases incidence

Los márgenes de los centros: transformaciones en los bordes urbanorurales (BUR) en localidades agrarias pampeanas

En el territorio pampeano constituido bajo el paradigma de la agricultura industrial, uno de los aspectos sociales conflictivos es el manejo técnico-productivo de áreas circundantes a poblaciones. Varios municipios han sancionado ordenanzas que restringen el uso de agroquímicos en los bordes urbano-rurales. La experiencia que presentamos se está desarrollando en una localidad del centro de la provincia de Santa Fe en la cual estas normativas han abierto debates y acciones en torno a la factibilidad de producir sin agroquímicos desde alternativas al modelo agropecuario hegemónico de la región pampeana. A partir del análisis de los procesos de innovación que ocurren en estos “márgenes” con los productores familiares y otros actores que van conectándose desde singulares convergencias, se intenta dar cuenta de su dinámica como modo de encuentro en la diversidad y posibilidad de emergencia de nuevos sentidos compartidos hacia la transformación del territorio.Eje B2 Paisajes, Territorios y Agroecología (Relatos de experiencias)Facultad de Ciencias Agrarias y Forestale

Los márgenes de los centros: transformaciones en los bordes urbanorurales (BUR) en localidades agrarias pampeanas

En el territorio pampeano constituido bajo el paradigma de la agricultura industrial, uno de los aspectos sociales conflictivos es el manejo técnico-productivo de áreas circundantes a poblaciones. Varios municipios han sancionado ordenanzas que restringen el uso de agroquímicos en los bordes urbano-rurales. La experiencia que presentamos se está desarrollando en una localidad del centro de la provincia de Santa Fe en la cual estas normativas han abierto debates y acciones en torno a la factibilidad de producir sin agroquímicos desde alternativas al modelo agropecuario hegemónico de la región pampeana. A partir del análisis de los procesos de innovación que ocurren en estos “márgenes” con los productores familiares y otros actores que van conectándose desde singulares convergencias, se intenta dar cuenta de su dinámica como modo de encuentro en la diversidad y posibilidad de emergencia de nuevos sentidos compartidos hacia la transformación del territorio.Eje B2 Paisajes, Territorios y Agroecología (Relatos de experiencias)Facultad de Ciencias Agrarias y Forestale

Los márgenes de los centros: transformaciones en los bordes urbanorurales (BUR) en localidades agrarias pampeanas

En el territorio pampeano constituido bajo el paradigma de la agricultura industrial, uno de los aspectos sociales conflictivos es el manejo técnico-productivo de áreas circundantes a poblaciones. Varios municipios han sancionado ordenanzas que restringen el uso de agroquímicos en los bordes urbano-rurales. La experiencia que presentamos se está desarrollando en una localidad del centro de la provincia de Santa Fe en la cual estas normativas han abierto debates y acciones en torno a la factibilidad de producir sin agroquímicos desde alternativas al modelo agropecuario hegemónico de la región pampeana. A partir del análisis de los procesos de innovación que ocurren en estos “márgenes” con los productores familiares y otros actores que van conectándose desde singulares convergencias, se intenta dar cuenta de su dinámica como modo de encuentro en la diversidad y posibilidad de emergencia de nuevos sentidos compartidos hacia la transformación del territorio.Eje B2 Paisajes, Territorios y Agroecología (Relatos de experiencias)Facultad de Ciencias Agrarias y Forestale

Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants

We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed consistent features across patients, with a peculiar concentric disto-proximal gradient of fatty replacement. We used targeted next generation sequencing and candidate gene approach to study these families. Compound biallelic heterozygous variants, p.[(Pro648Arg)]; [(His932Tyr)] and p.[(Thr251Ile),(Pro587Leu)]; [(Arg943Cys)], were found in the three patients causing this homogeneous phenotype. Our report on a subset of unrelated patients, that showed a distinct autosomal recessive childhood-onset neuromyopathy with congenital cataracts and glaucoma, expands the clinical spectrum of POLG-related disorders. It also confirms the association between cataracts and neuropathy with variants in POLG. Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy