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1.
Child Care Health Dev ; 41(6): 1040-6, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26250608

RESUMEN

BACKGROUND: Social and emotional development of infants and young children is largely based on the communicative interaction with their mother, or principal caretaker (Trevarthen ). The main modalities implied in this early communication are voice, facial expressions and gaze (Stern ). This study aims at analysing early mother-child interactions in the case of visually impaired mothers who do not have access to their children's gaze and facial expressions. METHODS: Spontaneous play interactions between seven visually impaired mothers and their sighted children aged between 6 months and 3 years were filmed. These dyads were compared with a control group of sighted mothers and children analysing four modalities of communication and interaction regulation: gaze, physical contacts, verbal productions and facial expressions. RESULTS: The visually impaired mothers' facial expressions differed from the ones of sighted mothers mainly with respect to forehead movements, leading to an impoverishment of conveyed meaning. Regarding the other communicative modalities, results suggest that visually impaired mothers and their children use compensatory strategies to guaranty harmonic interaction despite the mother's impairment: whereas gaze results the main factor of interaction regulation in sighted dyads, physical contacts and verbal productions assume a prevalent role in dyads with visually impaired mothers. Moreover, visually impaired mother's children seem to be able to differentiate between their mother and sighted interaction partners, adapting differential modes of communication. CONCLUSIONS: The results of this study show that, in spite of the obvious differences in the modes of communication, visual impairment does not prevent a harmonious interaction with the child.


Asunto(s)
Comunicación , Expresión Facial , Relaciones Madre-Hijo , Madres/psicología , Personas con Daño Visual/psicología , Desarrollo Infantil , Preescolar , Femenino , Humanos , Lactante , Masculino
2.
Minerva Pediatr ; 67(6): 495-503, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24785708

RESUMEN

AIM: The aim of this paper was to use and evaluate the unplugged project, a school-based program of proven effectiveness aimed at the prevention of substance abuse based on social influence. METHODS: This project was conducted during the school-year 2011/2012; it involved the Local Health Unit (LHU)'s personnel specifically and adequately formed and was addressed to teachers working in the three districts of the LHU4 Chiavarese. The courses involved teachers in three consecutive days and provided both theoretical inputs and practical exercises designed to enpower skills and to make the same effective. As a whole, 25 teachers of the secondary schools (public and private) of first and second level were trained. Following the training, 14 curricular courses have been launched and 286 students have been involved. RESULTS: The teachers have mainly worked on personal and social components of their students, stimulating their critical assessment of standards and skills potentially transferable in everyday life. The benefits for students have been: establishment of the classroom, positive relationship with the teacher, empathy, decrease of conflicts, increased self-awareness and self-esteem, better school results. Besides, teachers benefit from increased respect, self-reliance and confidence, as well as acquisition of new skills. CONCLUSION: Both the interest shown by teachers and the results achieved in classrooms have stimulated school leadership and personnel belonging to LHU4 Chiavarese to plan a new edition of the program the next autumn.


Asunto(s)
Docentes/normas , Promoción de la Salud/métodos , Estudiantes/psicología , Trastornos Relacionados con Sustancias/prevención & control , Adolescente , Niño , Conflicto Psicológico , Empatía , Docentes/educación , Docentes/psicología , Femenino , Humanos , Italia , Masculino , Competencia Profesional , Servicios de Salud Escolar , Instituciones Académicas , Autoimagen , Controles Informales de la Sociedad
3.
Strahlenther Onkol ; 190(4): 370-6, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24429479

RESUMEN

BACKGROUND: Evaluated in this study were the feasibility and the efficacy of concurrent low dose fractionated radiotherapy (LD-FRT) and chemotherapy as palliative treatment for recurrent/progressive glioblastoma multiforme (GBM). PATIENTS AND METHODS: Eligible patients had recurrent or progressive GBM, Karnofsky performance status ≥ 70, prior surgery, and standard radiochemotherapy treatment. Recurrence/progression disease during temozolomide (TMZ) received cisplatin (CDDP; 30 mg/m(2) on days 1, 8, 15), fotemustine (FTM; 40 mg/m(2) on days 2, 9, 16), and concurrent LD-FRT (0.3 Gy twice daily); recurrence/progression after 4 months from the end of adjuvant TMZ were treated by TMZ (150/200 mg/m(2) on days 1-5) concomitant with LD-FRT (0.4 Gy twice daily). Primary endpoints were safety and toxicity. RESULTS: A total of 32 patients were enrolled. Hematologic toxicity G1-2 was observed in 18.7 % of patients and G3-4 in 9.4 %. One patient (3.1 %) had complete response, 3 (9.4 %) had partial response, 8 (25 %) had stable disease for at least 8 weeks, while 20 patients (62.5 %) experienced progressive disease. The clinical benefit was 37.5 %. Median progression-free survival (PFS) and overall survival (OS) were 5 and 8 months, respectively. Survival rate at 12 months was of 27.8 %. CONCLUSION: LD-FRT and chemotherapy for recurrent/progressive GBM have a good toxicity profile and clinical outcomes, even though further investigation of this novel palliative treatment approach is warranted.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias Encefálicas/terapia , Quimioradioterapia/métodos , Fraccionamiento de la Dosis de Radiación , Glioblastoma/terapia , Recurrencia Local de Neoplasia/terapia , Radioterapia Conformacional/métodos , Adulto , Anciano , Neoplasias Encefálicas/diagnóstico , Femenino , Glioblastoma/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/diagnóstico , Proyectos Piloto , Resultado del Tratamiento , Adulto Joven
4.
Mar Pollut Bull ; 203: 116435, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38772171

RESUMEN

The Posidonia oceanica (L.) Delile 1813 banquette provides precious ecosystem services for Mediterranean beach nourishment and protection, representing an important way of energy transfer through marine-coastal habitats. It is surprising to note how it is poorly investigated, especially concerning its double role as potential sink and source of chemicals. In particular, few studies exist about the metal (loid)s occurrence and no data are available on emerging contaminants, such as Rare Earth Elements (REEs). The present research investigated for the first time the concentrations of twenty-eight metal(loid)s and fifteen REEs in a well-structured banquette along the Italian coast (Central Tyrrhenian Sea) showing that (i) metal(loid)s and REEs occur in banquettes, with higher relative concentrations of some metal(loid)s (B, Sr, Mn, Fe, Al, Zn) and REEs (Ce, Y, La, Nd) with no statistically significant seasonal variations; (ii) Posidonia banquettes may represent an interesting biological model for chemicals monitoring.


Asunto(s)
Alismatales , Monitoreo del Ambiente , Metales de Tierras Raras , Contaminantes Químicos del Agua , Metales de Tierras Raras/análisis , Contaminantes Químicos del Agua/análisis , Metales/análisis , Italia , Ecosistema
5.
ESMO Open ; 9(4): 102943, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38492275

RESUMEN

BACKGROUND: In the randomized phase II REGOMA trial, regorafenib showed promising activity in patients with recurrent glioblastoma. We conducted a large, multicenter, prospective, observational study to confirm the REGOMA data in a real-world setting. PATIENTS AND METHODS: The major inclusion criteria were histologically confirmed diagnosis of glioblastoma according to the World Health Organization (WHO) 2016 classification and relapse after radiotherapy with concurrent/adjuvant temozolomide treatment, good performance status [Eastern Cooperative Oncology Group performance status (ECOG PS 0-1)] and good liver function. Regorafenib was administered at the standard dose of 160 mg/day for 3 weeks on/1 week off. Brain magnetic resonance imaging was carried out within 14 days before starting regorafenib and every 8-12 weeks. The primary endpoint was overall survival (OS). The secondary endpoints were progression-free survival (PFS), objective response rate, disease control rate (DCR), safety and health-related quality of life. The Response Assessment in Neuro-Oncology (RANO) criteria were used for response evaluation and Common Terminology Criteria for Adverse Events (CTCAE) version 5 for assessment of adverse events (AEs). RESULTS: From September 2020 to October 2022, 190 patients with recurrent glioblastoma were enrolled from 30 cancer centers in Italy: their median age was 58.5 years [interquartile range (IQR) 53-67 years], 68% were male and 85 (44.7%) were in optimal clinical condition (ECOG PS 0). The number of patients taking steroids at baseline was 113 (60%); the second surgery was carried out in 39 (20.5%). O6-methylguanine-DNA methyltransferase (MGMT) was methylated in 80 patients (50.3%) and 147 (92.4%) of the patients analyzed had isocitrate dehydrogenase (IDH) wild type. The median follow-up period was 20 months (IQR 15.6-25.5 months). The median OS was 7.9 months ([95% confidence interval (CI) 6.5-9.2 months] and the median PFS was 2.6 months (95% CI 2.3-2.9 months). Radiological response was partial response and stable disease in 13 (7.3%) and 26 (14.6%) patients, respectively, with a DCR of 21.9%. The median number of regorafenib cycles per patient was 3 (IQR 2.0-4.0). Grade 3-4 drug-related adverse events were reported in 22.6% of patients. A dose reduction due to AEs was required in 36% of patients. No deaths were considered as treatment-related AEs. CONCLUSIONS: This large, real-world observational study showed similar OS with better tolerability of regorafenib in patients with relapsed glioblastoma compared with the REGOMA study.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Recurrencia Local de Neoplasia , Compuestos de Fenilurea , Piridinas , Humanos , Glioblastoma/tratamiento farmacológico , Masculino , Femenino , Persona de Mediana Edad , Estudios Prospectivos , Piridinas/uso terapéutico , Piridinas/farmacología , Anciano , Compuestos de Fenilurea/uso terapéutico , Compuestos de Fenilurea/farmacología , Neoplasias Encefálicas/tratamiento farmacológico , Italia , Adulto , Antineoplásicos/uso terapéutico , Antineoplásicos/farmacología , Calidad de Vida , Resultado del Tratamiento
6.
Strahlenther Onkol ; 189(11): 926-31, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23974823

RESUMEN

AIM: To investigate the impact of nonstandard concomitant temozolomide (TMZ) administration in two prospective phase II studies for glioblastoma (GBM). PATIENTS AND METHODS: From October 2000 to June 2008, 104 patients were enrolled in two studies: 25 in RT-TMZ-10.00 and 79 in RT-TMZ-01.04. Adjuvant radiotherapy (RT) was used with a total dose of 59.4 Gy (1.8 Gy/day). Patients received concomitant TMZ (75 mg/m(2)/day) from Monday to Friday during the first and last weeks of RT in the RT-TMZ-10.00 study and from Monday to Friday during all weeks of RT in the RT-TMZ-01.04 trial. Adjuvant TMZ (200 mg/m(2)) was administered for 5 days every 28 days. RESULTS: Median progression-free (PFS) and overall survival (OS) were 9 and 16 months, respectively, with no significant difference between the two groups (p = 0.5 and 0.14, respectively). The 2- and 5-year OS rates were 32 and 3 %, respectively, and similar to those observed with standard treatment regimens. CONCLUSION: Our data support the hypothesis that adjuvant TMZ is more important than concomitant chemotherapy (CH) and that RT is the more important element of the concomitant treatment schedule.


Asunto(s)
Neoplasias Encefálicas/mortalidad , Neoplasias Encefálicas/terapia , Quimioradioterapia Adyuvante/mortalidad , Dacarbazina/análogos & derivados , Glioblastoma/mortalidad , Glioblastoma/terapia , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos Alquilantes/uso terapéutico , Ensayos Clínicos Fase II como Asunto , Terapia Combinada/mortalidad , Dacarbazina/uso terapéutico , Supervivencia sin Enfermedad , Humanos , Italia/epidemiología , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Medición de Riesgo , Tasa de Supervivencia , Temozolomida , Resultado del Tratamiento , Adulto Joven
7.
Commun Agric Appl Biol Sci ; 78(2): 133-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-25145233

RESUMEN

Chemical analyses performed in 2011 on the 575 samples of apples in Trentino (Italy), there are in average 3.24 active ingredient per sample. Moreover, in 98% of the samples with detectable residues, the level did not exceed 30% of the official MRL This result is achieved thanks to the implementation of the guide lines for integrated production by the 8000 fruit growers, to an extension service which justifies the need of the treatment and gives advice on which pesticide fit better for the time-pest combination, to the systematic check up of the sprayers, to the correct sizing of mix volumes to spray according to the size of the canopy, to the selection of active ingredients based on their residual activity in field tests, and to the systematic monitoring of the level of residues found on representative samples of the product at harvest. With these assumptions, the next goal is to eliminate all traces of insecticides and acaricides now present only in 30% of the samples. This aim could be achieved by extending the use of pheromone mating disruption to control fruit feeding Lepidoptera, as well as by promoting the use of short persistent residue products during the final part of the season. Results of some of the experimental field trials are presented and discussed.


Asunto(s)
Frutas/química , Insecticidas/análisis , Malus/química , Residuos de Plaguicidas/análisis , Animales , Conducta Alimentaria/efectos de los fármacos , Frutas/parasitología , Lepidópteros/efectos de los fármacos , Lepidópteros/fisiología , Malus/parasitología , Control de Plagas
8.
Front Med (Lausanne) ; 10: 1059712, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36744131

RESUMEN

Background: The glioblastoma's bad prognosis is primarily due to intra-tumor heterogeneity, demonstrated from several studies that collected molecular biology, cytogenetic data and more recently radiomic features for a better prognostic stratification. The GLIFA project (GLIoblastoma Feature Analysis) is a multicentric project planned to investigate the role of radiomic analysis in GB management, to verify if radiomic features in the tissue around the resection cavity may guide the radiation target volume delineation. Materials and methods: We retrospectively analyze from three centers radiomic features extracted from 90 patients with total or near total resection, who completed the standard adjuvant treatment and for whom we had post-operative images available for features extraction. The Manual segmentation was performed on post gadolinium T1w MRI sequence by 2 radiation oncologists and reviewed by a neuroradiologist, both with at least 10 years of experience. The Regions of interest (ROI) considered for the analysis were: the surgical cavity ± post-surgical residual mass (CTV_cavity); the CTV a margin of 1.5 cm added to CTV_cavity and the volume resulting from subtracting the CTV_cavity from the CTV was defined as CTV_Ring. Radiomic analysis and modeling were conducted in RStudio. Z-score normalization was applied to each radiomic feature. A radiomic model was generated using features extracted from the Ring to perform a binary classification and predict the PFS at 6 months. A 3-fold cross-validation repeated five times was implemented for internal validation of the model. Results: Two-hundred and seventy ROIs were contoured. The proposed radiomic model was given by the best fitting logistic regression model, and included the following 3 features: F_cm_merged.contrast, F_cm_merged.info.corr.2, F_rlm_merged.rlnu. A good agreement between model predicted probabilities and observed outcome probabilities was obtained (p-value of 0.49 by Hosmer and Lemeshow statistical test). The ROC curve of the model reported an AUC of 0.78 (95% CI: 0.68-0.88). Conclusion: This is the first hypothesis-generating study which applies a radiomic analysis focusing on healthy tissue ring around the surgical cavity on post-operative MRI. This study provides a preliminary model for a decision support tool for a customization of the radiation target volume in GB patients in order to achieve a margin reduction strategy.

9.
Phys Rev Lett ; 108(24): 246401, 2012 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-23004297

RESUMEN

The nature of magnetic order and transport properties near surfaces is a topic of great current interest. Here we model metal-insulator interfaces with a multilayer system governed by a tight-binding Hamiltonian in which the interaction is nonzero on one set of adjacent planes and zero on another. As the interface hybridization is tuned, magnetic and metallic properties undergo an evolution that reflects the competition between antiferromagnetism and (Kondo) singlet formation in a scenario similar to that occurring in heavy-fermion materials. For a few-layer system at intermediate hybridization, a Kondo insulating phase results, where magnetic order and conductivity are suppressed in all layers. As more insulating layers are added, magnetic order is restored in all correlated layers except that at the interface. Residual signs of Kondo physics are however evident in the bulk as a substantial reduction of the order parameter in the 2 to 3 layers immediately adjacent to the interfacial one. We find no signature of long-range magnetic order in the metallic layers.

10.
J Neurooncol ; 106(2): 315-23, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21805324

RESUMEN

Medulloblastoma (MB) occurs infrequently in adult patients and standard treatment is still controversial. We report our long-term, single-institution experience of adult MB and a review of the literature. We analysed adult patients with histologically proved MB treated by postoperative radiotherapy. Primary endpoints were local control (LC), disease-free survival (DFS), and overall survival (OS). Acute toxicity was reported according to CTC-NCI score vers. 3.0 and specific neuropsychological assessment analysis was performed to define late brain toxicity. From 1990-2008, 13 patients were treated by craniospinal (CSI, 12/13) or cranial irradiation (1/13, because of bad clinical conditions). Median follow up was 101 months (64-218). Complete radiological response was observed in 12/13 patients and a partial response in 1/13. Ten-year LC, OS, and DFS were 91, 76, and 84%, respectively. Two patients died because of local and spinal progression after 13 and 62 months. Acute G3 haematological toxicity (RTOG score) was observed for one patient only. The neuropsychological analysis did not reveal late toxicity related to brain radiotherapy. This experience confirms the efficacy and safety of radiotherapy in adult MB patients, resulting in very interesting 10-year LC and OS.


Asunto(s)
Neoplasias Cerebelosas/radioterapia , Quimioradioterapia/efectos adversos , Quimioradioterapia/métodos , Meduloblastoma/radioterapia , Adolescente , Adulto , Neoplasias Cerebelosas/tratamiento farmacológico , Neoplasias Cerebelosas/mortalidad , Supervivencia sin Enfermedad , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Meduloblastoma/tratamiento farmacológico , Meduloblastoma/mortalidad , Persona de Mediana Edad , Pruebas Neuropsicológicas , Adulto Joven
11.
Arthritis Rheum ; 63(3): 830-9, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21360512

RESUMEN

OBJECTIVE: NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize NLRP12 mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequence crucial for ATP binding, which was identified in a Caucasian family with familial cold-induced autoinflammatory syndrome in some family members. METHODS: Fifty patients were tested for NLRP12 mutations. A Caucasian family with the p.D294E missense mutation of NLRP12 in some family members was clinically characterized. In vitro analysis of the effects of the mutation on NF-κB activity was performed in HEK 293 cells after cotransfection of the cells with a luciferase NF-κB-responsive element and mutant or wild-type (WT) NLRP12 expression plasmids. NF-κB activity was also evaluated 24 hours after stimulation with tumor necrosis factor α in monocytes from individual family members carrying the mutation. Furthermore, secretion of interleukin-1ß (IL-1ß), production of reactive oxygen species (ROS), and activation of antioxidant systems in patient and healthy donor monocytes, under resting conditions and after stimulation with pathogen-associated molecular patterns (PAMPs), were also assessed. RESULTS: In the family assessed, the p.D294E mutation segregated in association with a particular sensitivity to cold exposure (especially arthralgias and myalgia), but not always with an inflammatory phenotype (e.g., urticarial rash or fever). In vitro, the mutant protein maintained the same inhibitory activity as that shown by WT NLRP12. Consistently, NLRP12-mutated monocytes showed neither increased levels of p65-induced NF-κB activity nor higher secretion of IL-1ß. However, the kinetics of PAMP-induced IL-1ß secretion were significantly accelerated, and high production of ROS and up-regulation of antioxidant systems were demonstrated. CONCLUSION: Even with a variable range of associated manifestations, the extreme sensitivity to cold represents the main clinical hallmark in an individual carrying the p.D294E mutation of the NLRP12 gene. Although regulation of NF-κB activity is not affected in patients, redox alterations and accelerated secretion of IL-1ß are associated with this mild autoinflammatory phenotype.


Asunto(s)
Frío/efectos adversos , Síndromes Periódicos Asociados a Criopirina/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Mutación Missense , Adulto , Anciano , Síndromes Periódicos Asociados a Criopirina/inmunología , Síndromes Periódicos Asociados a Criopirina/metabolismo , Salud de la Familia , Femenino , Células HEK293 , Humanos , Interleucina-1beta/metabolismo , Péptidos y Proteínas de Señalización Intracelular/inmunología , Masculino , Persona de Mediana Edad , Monocitos/inmunología , Monocitos/metabolismo , FN-kappa B/metabolismo , Estrés Oxidativo/inmunología , Linaje , Fenotipo , Población Blanca/genética
12.
J Hazard Mater ; 424(Pt C): 126631, 2022 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-34334215

RESUMEN

Intensive agricultural management significantly affects soil chemical properties. Such impacts, depending on the intensity of agronomic practices, might persist for several decades. We tested how current soil properties, especially heavy metal concentrations, reflect the land-use history over a 24,000 ha area dominated by intensive apple orchards and viticulture (South Tyrol, ITA). We combined georeferenced soil analyses with land-use maps from 1850 to 2010 in a space-for-time approach to detect the accumulation rates of copper and zinc and understand how present-day soil heavy metal concentrations reflect land-use history. Soils under vineyards since the 1850s showed the highest available copper concentration (median of 314.0 mg kg-1, accumulation rate between 19.4 and 41.3 mg kg-1·10 y-1). Zinc reached the highest concentration in the same land-use type (median of 32.5 mg kg-1, accumulation rate between 1.8 and 4.4 mg kg-1·10 y-1). Using a random forest approach on 44,132 soil samples, we extrapolated land-use history on the permanent crop area of the region, reaching an accuracy of 0.72. This suggests that combining current soil analysis, historical management information, and machine learning models provides a valuable tool to predict land-use history and understand management legacies.


Asunto(s)
Metales Pesados , Contaminantes del Suelo , Agricultura , China , Cobre , Monitoreo del Ambiente , Metales Pesados/análisis , Suelo , Contaminantes del Suelo/análisis , Zinc
13.
Radiother Oncol ; 166: 92-99, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34748855

RESUMEN

INTRODUCTION: Stereotactic ablative radiotherapy (SABR) has been shown to increase survival in oligometastatic disease, but local control of colorectal metastases remains poor. We aimed to identify potential predictive factors of SBRT response through a multicenter large retrospective database and to investigate the progression to the polymetastatic disease (PMD). MATERIAL AND METHODS: The study involved 23 centers, and was approved by the Ethical Committee (Prot. Negrar 2019-ZT). 1033 lung metastases were reported. Clinical and biological parameters were evaluated as predictive for freedom from local progression-free survival (FLP). Secondary end-point was the time to the polymetastatic conversion (tPMC). RESULTS: Two-year FLP was 75.4%. Two-year FLP for lesions treated with a BED < 00 Gy, 100-124 Gy, and ≥125 Gy was 76.1%, 70.6%, and 94% (p = 0.000). Two-year FLP for lesion measuring ≤10 mm, 10-20 mm, and >20 mm was 79.7%, 77.1%, and 66.6% (p = 0.027). At the multivariate analysis a BED ≥125 Gy significantly reduced the risk of local progression (HR 0.24, 95%CI 0.11-0.51; p = 0.000). Median tPMC was 26.8 months. Lesions treated with BED ≥125 Gy reported a significantly longer tPMC as compared to lower BED. The median tPMC for patients treated to 1, 2-3 or 4-5 simultaneous oligometastases was 28.5, 25.4, and 9.8 months (p = 0.035). CONCLUSION: The present is the largest series of lung colorectal metastases treated with SABR. The results support the use of SBRT in lung oligometastatic colorectal cancer patients as it might delay the transition to PMD or offer relatively long disease-free period in selected cases. Predictive factors were identified for treatment personalization.


Asunto(s)
Neoplasias Colorrectales , Neoplasias Pulmonares , Radiocirugia , Neoplasias del Recto , Neoplasias Colorrectales/patología , Humanos , Radiocirugia/métodos , Neoplasias del Recto/etiología , Estudios Retrospectivos
14.
Mol Phylogenet Evol ; 61(1): 1-11, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21524706

RESUMEN

Systematic uncertainties in the crayfish Austropotamobius pallipes are well grounded by the number of species and subspecies described using different approaches, causing scientists to define this taxon as "complex". However, a key task that conservation programmes are facing regarding the recent and drastic decline of European populations, is the coherent systematic classification of this threatened species. Here we present results obtained by coupling mtDNA and genome analysis suggestive of a novel evolutionary framework to explain the relationships among phylogenetic lineages of A. pallipes. The direct sequencing of mtDNA COI gene fragment revealed a strong geographic structure with four distinct haplogroups separated by a range of 5-25 mutations. However, mitochondrial data were not supported by genomic fingerprinting based on 535 AFLP polymorphisms. Nuclear markers showed an unexpected moderate level of genetic differentiation and the absence of any geographic structure. Consequently, this study proposes that the taxonomic hypothesis of a single species of A. pallipes settling the Italian continental waters, is affected by complex evolutionary events. To solve the paradox, we hypothesized an evolutive scenario in which the separation of ancient mtDNA lineages likely occurred before the latest glacial periods. However, the speciation process remained incomplete due to secondary intensive postglacial contacts that forced the mingling of the genomes, and confounds the phylogeographic signature still detectable within mtDNA. Postglacial dispersion and the following demographic events, such as founder effects, drift and bottlenecks, abruptly depleted the local mtDNA variation, and shaped the current genetic population structure of white-clawed crayfish.


Asunto(s)
Astacoidea/clasificación , Astacoidea/genética , ADN Mitocondrial/genética , Especies en Peligro de Extinción , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Animales , Astacoidea/anatomía & histología , Secuencia de Bases , Dermatoglifia del ADN , Evolución Molecular , Variación Genética , Genoma , Haplotipos , Italia , Mitocondrias/genética , Filogenia , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Mariscos/clasificación
15.
Artículo en Inglés | MEDLINE | ID: mdl-33732912

RESUMEN

INTRODUCTION: In radiotherapy, palliative patients are often suboptimal managed and patients experience long waiting times. Event-logs (recorded local files) of palliative patients, could provide a continuative decision-making system by means of shared guidelines to improve patient flow. Based on an event-log analysis, we aimed to accurately understand how to successively optimize patient flow in palliative care. METHODS: A process mining methodology was applied on palliative patient flow in a high-volume radiotherapy department. Five hundred palliative radiation treatment plans of patients with bone and brain metastases were included in the study, corresponding to 290 patients treated in our department in 2018. Event-logs and the relative attributes were extracted and organized. A process discovery algorithm was applied to describe the real process model, which produced the event-log. Finally, conformance checking was performed to analyze how the acquired event-log database works in a predefined theoretical process model. RESULTS: Based on the process discovery algorithm, 53 (10%) plans had a dose prescription of 8 Gy, 249 (49.8%) plans had a dose prescription of 20 Gy and 159 (31.8%) plans had a dose prescription of 30 Gy. The remaining 39 (7.8%) plans had different dose prescriptions. Considering a median value, conformance checking demonstrated that event-logs work in the theoretical model. CONCLUSIONS: The obtained results partially validate and support the palliative patient care guideline implemented in our department. Process mining can be used to provide new insights, which facilitate the improvement of existing palliative patient care flows.

16.
Phys Rev Lett ; 113(1): 019601, 2014 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-25032934
17.
Pediatr Rheumatol Online J ; 17(1): 38, 2019 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-31286971

RESUMEN

BACKGROUND: Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type psoriasis, generalized pustular psoriasis, palmoplantar pustular psoriasis and pityriasis rubra pilaris. Recently, a new CARD14 -associated phenotype defined as CAPE (CARD14-associated papulosquamous eruption) with clinical features of both psoriasis and pityriasis rubra pilaris was reported. We describe a family carrying a novel heterozygous mutation in CARD14 gene, with childhood-onset erythrodermic psoriasis requiring an unusual extremely high dose (up to 2 mg/kg every 8 weeks) of ustekinumab to achieve disease remission. CASE PRESENTATION: We describe a large family with three pairs of twins presenting a clinical phenotype characterized by childhood-onset erythrodermic psoriasis; in some family members is also reported psoriatic arthritis. The two probands presented poor clinical response to topic and systemic therapy with antihistamine, steroid, retinoids, cyclosporine and etanercept. After exclusion of the most common genes associated to autoinflammatory diseases (IL36RN, IL1RN, MVK, TNFRSF1A, NLRP3, NLRP12, MEFV, NOD2, PSMB8, PSTPIP1, LPIN2) we approached a new gene search by subjecting to Whole Exome Sequencing (WES) analysis five members of the family. A novel heterozygous mutation (c.446 T > G, leading to the missense amino acid substitution p.L149R) in the exon 4 of the CARD14 gene was identified in all affected members. Increasing dosages (up to 2 mg/kg every 8 weeks) of ustekinumab, a human monoclonal antibody targeting interleukin-12 (IL-12) and interleukin-23 (IL-23), allowed the complete control of the clinical manifestations, with an evident reduction of circulating Th17 and Th22 CD4+ T cell subsets. CONCLUSIONS: We describe the association of mutations of the CARD14 gene with an erythrodermic psoriasis pedigree, underlying the necessity to investigate CARD14 mutations in childhood-onset psoriasis cases and confirming the presence of CARD14 causative mutations also in erythrodermic psoriasis form, as recently reported. Also in pediatric age, ustekinumab represents a powerful therapeutic option for this rare condition, that is usually refractory to other treatments. In young children, high and frequent dosages allowed a complete control of the clinical manifestations without any severe side effects, with a long-term follow-up.


Asunto(s)
Proteínas Adaptadoras de Señalización CARD/genética , Fármacos Dermatológicos/uso terapéutico , Mutación con Ganancia de Función/genética , Guanilato Ciclasa/genética , Proteínas de la Membrana/genética , Psoriasis/tratamiento farmacológico , Psoriasis/genética , Ustekinumab/uso terapéutico , Niño , Dermatitis Exfoliativa/genética , Femenino , Heterocigoto , Humanos , Masculino , Mutación Missense/genética , Linaje , Gemelos Dicigóticos , Secuenciación del Exoma
18.
Trans R Soc Trop Med Hyg ; 110(6): 333-42, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-27268713

RESUMEN

BACKGROUND: Six years after the implementation of intermittent preventive treatment in pregnancy (IPTp) with sulfadoxine-pyrimethamine (SP) in Gabon, its impact on placental malaria and pregnancy outcomes remains unknown. METHODS: Age, gestational data, use of IPTp-SP and birth weight were recorded during a hospital-based cross-sectional survey performed in 2011 in 387 women at the end of pregnancy. RESULTS: Malaria prevalence was 6.7 and 5.3% in peripheral and placental blood respectively. Overall, 59.0% women took at least two IPTp-SP doses which was associated with 50% reduction of Plasmodium; (P.) falciparum infection in primigravidae. Previous malaria treatment was a risk factor for peripheral P. falciparum infection, while uptake of IPTp-SP was associated with reduced parasitaemia. Anaemia prevalence was 38.0%, low birth weight and prematurity rates were 6.0 and 12.0% respectively. Young age was associated with a higher frequency of malaria, anaemia, low birth weight and preterm delivery (p<0.01). Birth weight significantly rose with increasing age (p<0.01), parity (p=0.03) and number of SP doses (p=0.03). A birth weight reduction of 230 g in case of peripheral parasitaemia (p=0.02) and of 210 g with placental parasitaemia (p=0.13) was observed. CONCLUSIONS: Microscopic P. falciparum prevalence during pregnancy significantly declined between 2005 and 2011, following IPTp-SP implementation in Gabon. Young women and paucigravidae remain the most susceptible to malaria and associated outcomes.


Asunto(s)
Antimaláricos/uso terapéutico , Malaria Falciparum/prevención & control , Plasmodium falciparum , Complicaciones Parasitarias del Embarazo/prevención & control , Resultado del Embarazo , Pirimetamina/uso terapéutico , Sulfadoxina/uso terapéutico , Población Urbana , Adulto , Anemia/complicaciones , Anemia/epidemiología , Antimaláricos/administración & dosificación , Peso al Nacer , Ciudades , Estudios Transversales , Combinación de Medicamentos , Femenino , Gabón , Número de Embarazos , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro , Malaria Falciparum/epidemiología , Malaria Falciparum/parasitología , Parasitemia/epidemiología , Parasitemia/parasitología , Parasitemia/prevención & control , Placenta , Embarazo , Complicaciones Parasitarias del Embarazo/epidemiología , Complicaciones Parasitarias del Embarazo/parasitología , Prevalencia , Pirimetamina/administración & dosificación , Sulfadoxina/administración & dosificación , Adulto Joven
19.
J Biosci ; 40(3): 531-7, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26333399

RESUMEN

Elite athletes are those who represent their sport at such major competition as the Olympic Games or World contests. The most outstanding athletes appear to emerge as a result of endogenous biologic characteristics interacting with exogenous influences of the environment, often described as a 'Nature and Nurture' struggle. In this work, we assessed the contribution given by 4 genes involved in muscles development (MSTN) and behavioural insights (5HTT, DAT and MAOA) to athletic performances. As for neurotransmission, 5HTT, DAT and MAOA genes have been considered as directly involved in the management of aggressiveness and anxiety. Genotypes and allelic frequencies of 5HTTLPR, MAOA-u VNTR, DAT VNTR and MSTN K153R were determined in 50 elite athletes and compared with 100 control athletes. In this work we found a significant correlation between the dopamine transporter genotype 9/9 and allele 9 and elite sport performances. On the contrary, no association was found between muscle development regulation or serotonin pathway and elite performances. Our data, for the first time, suggest a strong role of dopamine neurotransmitter in determining sport success, highlighting the role of emotional control and psycological management to reach high-level performances.


Asunto(s)
Rendimiento Atlético/fisiología , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Monoaminooxidasa/genética , Miostatina/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Transmisión Sináptica/genética , Alelos , Atletas , Femenino , Frecuencia de los Genes/genética , Genotipo , Humanos , Masculino , Serotonina/metabolismo
20.
Biotechnol Adv ; 7(4): 499-526, 1989.
Artículo en Inglés | MEDLINE | ID: mdl-14542988

RESUMEN

Over the last 40 years, the fermentation industry has provided facility planners, plant operators and environmental engineers with a wide range of residuals management challenges and resource/energy recovery opportunities. In response, the industry has helped pioneer the use of a number of innovative resource and energy recovery technologies. Production of animal feed supplements, composts, fertilizers, soil amendments, commercial baking additives and microbial protein materials have all been detailed in the literature. In many such cases, recovery of by-products significantly reduces the need for treatment and disposal facilities. Stable, reliable anaerobic biological treatment processes have also been developed to recovery significant amounts of energy in the form of methane gas. Alternatively, dewatered or condensed organic fermentation industry residuals have been used as fuels for incineration-based energy recovery systems. The sale or use of recovered by-products and/or energy can be used to offset required processing costs and provide a technically and environmentally viable alternative to traditional treatment and disposal strategies. This review examines resource recovery options currently used or proposed for fermentation industry residuals and the conditions necessary for their successful application.

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