274 research outputs found

    Occlusal traits in children with neurofibromatosis type 1

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    Literature is poor of data about the occlusion in children affected by neurofibromatosis type 1 (NF1). This case-control study investigated the occlusal traits in a group of children with NF1

    Multigene panel testing increases the number of loci associated with gastric cancer predisposition

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    The main gene involved in gastric cancer (GC) predisposition is CDH1, the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). CDH1 only explains a fraction (10–50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients. We searched for germline pathogenic variants in 94 cancer-related genes in 96 GC or LBC Italian patients with early-onset and/or family history of GC. We found CDH1 pathogenic variants in 10.4% of patients. In 11.5% of cases, we identified loss-of-function variants in BRCA1, BRCA2, PALB2, and ATM breast/ovarian cancer susceptibility genes, as well as in MSH2, PMS2, BMPR1A, PRF1, and BLM genes. In 78.1% of patients, we did not find any variants with clear-cut clinical significance; however, 37.3% of these cases harbored rare missense variants predicted to be damaging by bioinformatics tools. Multigene panel testing decreased the number of patients that would have otherwise remained genetically unexplained. Besides CDH1, our results demonstrated that GC pathogenic variants are distributed across a number of susceptibility genes and reinforced the emerging link between gastric and breast cancer predisposition.This research was supported by the Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, by the Italian Ministry of Education, University and Research (MIUR)—Dipartimenti di Eccellenza Program (2018–2022)—Department of Biology and Biotechnology L. Spallanzani, University of Pavia, and by the Dunia Beam Erasmus Mundus project (fellowship to R.A.K.)

    The blind men and the AML elephant:can we feel the progress?

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    The pharmacological therapy of non-promyelocytic acute myeloid leukemia (AML) has remained unchanged for over 40 years with an anthracycline–cytarabine combination forming the backbone of induction treatments. Nevertheless, the survival of younger patients has increased due to improved management of the toxicity of therapies including stem cell transplantation. Older patients and those with infirmity that precludes treatment-intensification have, however, not benefited from improvements in supportive care and continue to experience poor outcomes. An increased understanding of the genomic heterogeneity of AML raises the possibility of treatment-stratification to improve prognosis. Thus, efforts to identify agents with non-conventional anti-leukemic effects have paralleled those aiming to optimize leukemia cell-kill with conventional chemotherapy, resulting in a number of randomized controlled trials (RCT). In the last 18 months, RCTs investigating the effects of vosaroxin, azacitidine and gemtuzumab ozogamycin and daunorubicin dose have been reported with some studies indicating a statistically significant survival benefit with the investigational agent compared with standard therapy and potentially, a new era in AML therapeutics. Given the increasing costs of cancer care, a review of these studies, with particular attention to the magnitude of clinical benefit with the newer agents would be useful, especially for physicians treating patients in single-payer health systems

    Randomized trial on adjuvant treatment with FOLFIRI followed by docetaxel and cisplatin versus 5-fluorouracil and folinic acid for radically resected gastric cancer

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    Some trial have demonstrated a benefit of adjuvant fluoropirimidine with or without platinum compounds compared with surgery alone. ITACA-S study was designed to evaluate whether a sequential treatment of FOLFIRI [irinotecan plus 5-fluorouracil/folinic acid (5-FU/LV)] followed by docetaxel plus cisplatin improves disease-free survival in comparison with 5-FU/LV in patients with radically resected gastric cancer. Patients with resectable adenocarcinoma of the stomach or gastroesophageal junction were randomly assigned to either FOLFIRI (irinotecan 180 mg/m(2) day 1, LV 100 mg/m(2) as 2 h infusion and 5-FU 400 mg/m(2) as bolus, days 1 and 2 followed by 600 mg/m(2)/day as 22 h continuous infusion, q14 for four cycles) followed by docetaxel 75 mg/m(2) day 1, cisplatin 75 mg/m(2) day 1, q21 for three cycles (sequential arm) or De Gramont regimen (5-FU/LV arm). From February 2005 to August 2009, 1106 patients were enrolled, and 1100 included in the analysis: 562 in the sequential arm and 538 in the 5-FU/LV arm. With a median follow-up of 57.4 months, 581 patients recurred or died (297 sequential arm and 284 5-FU/LV arm), and 483 died (243 and 240, respectively). No statistically significant difference was detected for both disease-free [hazard ratio (HR) 1.00; 95% confidence interval (CI): 0.85-1.17; P = 0.974] and overall survival (OS) (HR 0.98; 95% CI: 0.82-1.18; P = 0.865). Five-year disease-free and OS rates were 44.6% and 44.6%, 51.0% and 50.6% in the sequential and 5-FU/LV arm, respectively. A more intensive regimen failed to show any benefit in disease-free and OS versus monotherapy

    Sottoprodotti agroalimentari valorizzati con le mosche soldato

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    Le strategie di gestione degli scarti alimentari si sono finora concentrate principalmente sulla riduzione dei rifiuti, tuttavia la ricerca di nuove forme di valorizzazione rappresenta un\u2019alternativa concreta che apre nuovi scenari di mercato. La capacit\ue0 di alcune specie di insetti di utilizzare un\u2019ampia gamma di substrati organici comunemente considerati come sottoprodotti e rifiuti, rappresenta una delle soluzioni pi\uf9 promettenti per attuare il principio fondante dell\u2019economia circolare. Tra questi vi \ue8 la \u201cmosca soldato nera\u201d (Hermetia illucens, Diptera: Stratiomyidae), una mosca non infestante (gli adulti vivono pochi giorni, non si nutrono e non trasmettono patogeni), le cui larve sono in grado di svilupparsi su un\u2019ampia variet\ue0 di substrati organici ad elevato contenuto di umidit\ue0. Per sfruttare le potenzialit\ue0 delle mosche soldato nel ricavare nutrienti ad alto valore energetico utilizzabili sia in ambito alimentare/mangimistico, sia come combustibili, sia come ammendanti per l\u2019agricoltura \ue8 stato creato, nel solco dei Gruppi Operativi per l\u2019Innovazione (GOI) del partenariato PEI AGRI, il progetto BIOECO-FLIES, un gruppo di ricerca coordinato da CRPV (Centro Ricerche Produzioni Vegetali) e finanziato dalla Regione Emilia Romagna (PSR 2014-2020 Mis. 16.01 Focus Area 5C), che vede coinvolti diversi enti di ricerca pubblici e privati: Universit\ue0 di Modena e Reggio Emilia (UNIMORE), Universit\ue0 di Parma (UNIPR) e la societ\ue0 Astra Innovazione e Sviluppo. Partendo dai sottoprodotti della lavorazione di prodotti ortofrutticoli e olivicoli forniti dalle imprese agricole del GOI quali Consorzio Agribologna, C.A.B. Cooperativa agricola Brisighellese, Conserve Italia, ed altre aziende agricole del territorio Emiliano-Romagnolo, il progetto ha ottimizzato le caratteristiche quali-quantitative delle mosche soldato allevate in relazione alla stagionalit\ue0 dei sottoprodotti; inoltre, sono stati valutati i processi estrattivi applicabili per ottenere una separazione efficiente delle frazioni, le possibilit\ue0 di impiego di tali frazioni, e la sostenibilit\ue0 ambientale ed economica dell\u2019intero process

    Incidence of cancer in the area around Amsterdam Airport Schiphol in 1988–2003: a population-based ecological study

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    BACKGROUND: Amsterdam Airport Schiphol is a major source of complaints about aircraft noise, safety risks and concerns about long term adverse health effects, including cancer. We investigated whether residents of the area around Schiphol are at higher risk of developing cancer than the general Dutch population. METHODS: In a population-based study using the regional cancer registry, we estimated the cancer incidence during 1988–2003 in residents of the area surrounding Schiphol. We defined a study area based on aircraft noise contours and 4-digit postal code areas, since historical data on ambient air pollution were not available and recent emission data did not differ from the background urban air quality. RESULTS: In residents of the study area 13 207 cancer cases were diagnosed, which was close to the expected number, using national incidence rates as a reference (standardized incidence ratio [SIR] 1.02). We found a statistically significantly increased incidence of hematological malignancies (SIR 1.12, 95% confidence interval [CI]: 1.05, 1.19), mainly due to high rates for non-Hodgkin lymphoma (SIR 1.22, 95% CI: 1.12, 1.33) and acute lymphoblastic leukemia (SIR 1.34, 95% CI: 0.95, 1.83). The incidence of cancer of the respiratory system was statistically significantly decreased (SIR 0.94, 95% CI: 0.90, 0.99), due to the low rate in males (SIR 0.89). In the core zone of the study area, cancer incidence was slightly higher than in the remaining ring zone (rate ratio of the core zone compared to the ring zone 1.05, 95% CI 1.01, 1.10). This was caused by the higher incidence of cancer of the respiratory system, prostate and the female genital organs in the core zone in comparison to the ring zone. CONCLUSION: The overall cancer incidence in the Schiphol area was similar to the national incidence. The moderately increased risk of hematological malignancies could not be explained by higher levels of ambient air pollution in the Schiphol area. This observation warrants further research, for example in a study with focus on substances in urban ambient air pollution, as similar findings were observed in Greater Amsterdam

    Basic fibroblast growth factor and vascular endothelial growth factor serum levels in breast cancer patients and healthy women: useful as diagnostic tools?

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    INTRODUCTION: The aim of the present study was to analyze the relationship between the expression of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) in breast cancer cells and the corresponding serum levels in individual patients. The study also evaluated the potential of serum levels of the two growth factors as diagnostic markers in a case–control study. METHODS: VEGF expression and bFGF expression were determined in 62 and 63 tumor samples, respectively. Serum VEGF and bFGF levels were determined in 54 and 65 healthy women and in 69 and 73 breast cancer patients, respectively, using a quantitative sandwich enzyme immunoassay technique. RESULTS: A direct correlation was observed between VEGF expression and bFGF expression in individual tumors (P = 0.001) and between serum levels (P = 0.038) in individual patients, but not between tumor cell expression and the corresponding serum level for either growth factor. Median values of serum levels in healthy women and breast cancer patients were not different for VEGF (P = 0.055), but were significantly different for bFGF (P < 0.001). The receiver operating characteristic curve identified a serum bFGF concentration of 1.0 pg/ml, with 84.9% sensitivity and 63.1% specificity, as the best cut-off value to discriminate between healthy women and breast cancer patients. An age-based subgroup analysis showed that serum values of patients older than 70 years of age mainly contributed to the high accuracy. CONCLUSIONS: Our data repropose bFGF as a noninvasive diagnostic tool for breast cancer
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