24 results on '"Anelli V"'
Search Results
2. Radiological evaluation of response in patients with locally advanced/metastatic soft tissue sarcoma treated with trabectedin.
- Author
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Ceddia, S., Onesti, C. E., Vari, S., Torchia, A., Cosimati, A., Riva, F., Maccallini, M. T., Cerro, M., Benvenuti, G., Russillo, M., Anelli, V., Sperduti, I., Biagini, R., and Ferraresi, V.
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SARCOMA ,SYNOVIOMA ,TRABECTEDIN ,ANTINEOPLASTIC agents ,OVERALL survival - Abstract
Background: Trabectedin is an antineoplastic drug approved for patients (pts) with advanced soft tissue sarcomas (STS). Interestingly, the radiological evaluation of response during trabectedin therapy is peculiar. Methods: The aim of this single-center retrospective study is to analyze the concordance of response assessment according to RECIST compared with Choi criteria in patients with STS treated with trabectedin between 2009 and 2020 at Regina Elena National Cancer Institute in Rome. Results: We present the preliminary data collected in the last 2 months (mos) on 37 pts who received the diagnosis between 2015 and 2020, with a median age of 52.5 years (range 32–78). The median number of trabectedin cycles administered was four (range 2–50) for a median follow up of 5.83 months (range 1–60). Histological subtypes of STS were five (13.5%) leiomyosarcoma, 14 (37.8%) liposarcoma, nine (24.3%) undifferentiated pleomorphic sarcoma, three (8.1%) synovial sarcoma, and six (16.2%) other rare histological subtypes. Eight pts (21.6%) received trabectedin in the first line setting, 21 (56.8%) in the second line, and seven (18.9%) received it in subsequent lines. One pt received trabectedin as neoadjuvant therapy in a clinical trial (ISG-STS 1001). Median progression-free survival was 3.6 months (CI95% 2.7–4.6); median overall survival was 34.3 months (CI95% 0–75.4). The radiological responses were evaluated with both RECIST and Choi criteria; responses matched in 33 pts (89.2%) but not in four (10.8%). The best responses obtained according to RECIST criteria were two (5.4%) partial response (PR), 13 (35.1%) stable disease (SD), and 22 (59.5%) progressive disease (PD). Instead, two (5.4%), 13 (35.1%), and 22 (59.5%) pts obtained PR, SD, and PD respectively, according to Choi criteria. Cohen’s kappa coefficient of concordance was 0.792 (p-value <0.002). A specialized radiologist performed all imaging examinations using a dedicated workstation in the same center. Conclusion: In this first analysis, the concordance between RECIST and Choi assessments demonstrates no statistically significant difference. Responses did not match for four pts. We are expanding the analysis to all pts included in the original cohort to confirm or deny these initial results. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Evaluation of a large set of patients with Autoimmune Polyglandular Syndrome from a single reference centre in context of different classifications
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Gatta, E., primary, Maltese, V., additional, Cimino, E., additional, Cavadini, M., additional, Anelli, V., additional, Di Lodovico, E., additional, Piovani, E., additional, Zammarchi, I., additional, Gozzoli, G., additional, Agosti, B., additional, Pirola, I., additional, Delbarba, A., additional, Girelli, A., additional, Buoso, C., additional, Bambini, F., additional, Alfieri, D., additional, Bremi, W., additional, Facondo, P., additional, Lupo, R., additional, Bezzi, F., additional, Fredi, M., additional, Mazzola, A. M., additional, Gandossi, E., additional, Saullo, M., additional, Marini, F., additional, Licini, M., additional, Pezzaioli, L. C., additional, Pini, L., additional, Franceschini, F., additional, Ricci, C., additional, and Cappelli, C., additional
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- 2023
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4. Strong chemotaxis by marine bacteria towards polysaccharides is enhanced by the abundant organosulfur compound DMSP.
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Clerc, EE, Raina, J-B, Keegstra, JM, Landry, Z, Pontrelli, S, Alcolombri, U, Lambert, BS, Anelli, V, Vincent, F, Masdeu-Navarro, M, Sichert, A, De Schaetzen, F, Sauer, U, Simó, R, Hehemann, J-H, Vardi, A, Seymour, JR, Stocker, R, Clerc, EE, Raina, J-B, Keegstra, JM, Landry, Z, Pontrelli, S, Alcolombri, U, Lambert, BS, Anelli, V, Vincent, F, Masdeu-Navarro, M, Sichert, A, De Schaetzen, F, Sauer, U, Simó, R, Hehemann, J-H, Vardi, A, Seymour, JR, and Stocker, R
- Abstract
The ability of marine bacteria to direct their movement in response to chemical gradients influences inter-species interactions, nutrient turnover, and ecosystem productivity. While many bacteria are chemotactic towards small metabolites, marine organic matter is predominantly composed of large molecules and polymers. Yet, the signalling role of these large molecules is largely unknown. Using in situ and laboratory-based chemotaxis assays, we show that marine bacteria are strongly attracted to the abundant algal polysaccharides laminarin and alginate. Unexpectedly, these polysaccharides elicited stronger chemoattraction than their oligo- and monosaccharide constituents. Furthermore, chemotaxis towards laminarin was strongly enhanced by dimethylsulfoniopropionate (DMSP), another ubiquitous algal-derived metabolite. Our results indicate that DMSP acts as a methyl donor for marine bacteria, increasing their gradient detection capacity and facilitating their access to polysaccharide patches. We demonstrate that marine bacteria are capable of strong chemotaxis towards large soluble polysaccharides and uncover a new ecological role for DMSP in enhancing this attraction. These navigation behaviours may contribute to the rapid turnover of polymers in the ocean, with important consequences for marine carbon cycling.
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- 2023
5. 83P Radiological evaluation of response in patients with soft tissue sarcoma treated with trabectedin
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Ceddia, S., primary, Vari, S., additional, Torchia, A., additional, Onesti, C.E., additional, Cosimati, A., additional, Veroli, M., additional, Chiavassa, A., additional, Riva, F., additional, Salvatori, F., additional, Benvenuti, G., additional, Anelli, V., additional, Sperduti, I., additional, and Ferraresi, V., additional
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- 2023
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6. Interpretability of BERT Latent Space through Knowledge Graphs
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Anelli, V. W., Biancofiore, G. M., De Bellis, A., Di Noia, T., and Di Sciascio, E.
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deep learning ,knowledge graphs ,natural language processing - Published
- 2022
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7. SIMULTANEOUS INTAKE OF LIQUID L-T4 FORMULATION AND IRON SALT: FACT OR FICTION?
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Maltese, V., Gatta, E., Facondo, P., Anelli, V., Cavadini, M., Buoso, C., Bambini, F., Delbarba, A., Pirola, I., and Cappelli, C.
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IRON , *SALT , *IRON deficiency , *SALTS , *LIQUIDS - Abstract
Context. Hypothyroidism and iron deficiency are among the most common pathologies in population. Therefore, there are a lot of patients assuming both iron salt supplements and levothyroxine therapy. Objective. To evaluate the effect of iron salt intake on L-T4 absorption among different L-T4 formulations. Materials and methods. A PubMed/MEDLINE, Web of Science, and Scopus research was performed. Original studies and reviews written in English and published online up to 21 December 2022 were selected and reviewed. The final reference list was defined based on the relevance of each paper to the scope of this review. Results. The data show an impaired absorption of L-T4 in tablets formulation when taken concomitantly with iron salt supplements. These phenomena seem to be circumvented by new L-T4 formulations. Conclusion. Liquid L-T4 formulations can be ingested with iron salts, with no impairment of absorption. More studies are necessary to confirm these data for soft-gel capsules L-T4. [ABSTRACT FROM AUTHOR]
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- 2023
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8. Thyroid impairment and male fertility: a narrative review of literature.
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Anelli V, Gatta E, Pirola I, Delbarba A, Rotondi M, and Cappelli C
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- Animals, Male, Humans, Fertility, Erectile Dysfunction etiology, Infertility, Male etiology, Hyperthyroidism complications
- Abstract
Purpose: To evaluate the effect of thyroid function on male fertility, focusing on hypo- and hyperthyroidism., Methods: A PubMed/MEDLINE, Web of Science, and Scopus research was performed. Original studies in English published online up to 31 May 2023 were selected and reviewed. The final reference list was defined based on the relevance of each paper to the scope of this review., Results: The available data in animals (31 studies) and human (26 studies) showed conflicting results. However, thyroid dysfunction altered erection and ejaculation both in animal models than in men., Conclusion: Both hypothyroidism and hyperthyroidism seem to cause ejaculation and erectile dysfunction. Hence, Guidelines recommend against the systematic screening for thyroid disorders in the men in sub-fertile couples, but only in men with ejaculation and erectile dysfunction and/or altered semen parameters.
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- 2024
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9. Prediction of tumor response to neoadjuvant chemotherapy in high-grade osteosarcoma using clustering-based analysis of magnetic resonance imaging: an exploratory study.
- Author
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Benvenuti G, Marzi S, Vidiri A, Baldi J, Ceddia S, Riva F, Covello R, Terrenato I, and Anelli V
- Abstract
Purpose: To evaluate the ability of magnetic resonance imaging (MRI)-based clustering analysis to predict the pathological response to neoadjuvant chemotherapy (NACT) in patients with primary high-grade osteosarcoma., Materials and Methods: Twenty-two patients were included in this retrospective study. All patients underwent MRIs before and after NACT. The entire tumor volume was manually delineated on post-contrast T1-weighted images and subsegmented into three clusters using the K-means algorithm. Histogram-based parameters were calculated for each lesion. The response to NACT was obtained from the histopathological assessment of the tumor necrosis rate following resection. The Mann-Whitney test was used to compare poor and fair-to-good responders. The receiver operating characteristic curve was used to evaluate the diagnostic performance of the optimal parameters., Results: At baseline, poor responders showed a significantly larger volume of cluster1 (Vol1) than fair-to-good responders (p = 0.038). After NACT, they exhibited a lower 10th percentile (P10) and kurtosis (p = 0.038 and 0.002, respectively). Vol1 at baseline and P10 after NACT had an AUC of 77% (95% CI 56-98%). The kurtosis after NACT had the best discriminative power, with an AUC of 89.7% (95% CI 75-100%)., Conclusion: The MRI-based histogram and clustering analysis provided a good ability to differentiate between poor and fair-to-good responders before and after NACT. Further investigations using larger datasets are required to corroborate our findings., Competing Interests: Declarations Conflict of interest The authors have no relevant financial or non-financial interests to disclose. Ethics Approval This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the institutional ethics committee (No. 90/XX/24). Consent to publish Written informed consent was waived due to the retrospective nature of the study., (© 2024. Italian Society of Medical Radiology.)
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- 2024
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10. Type 1 diabetes mellitus and sperm quality: A case-control study.
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Delbarba A, Anelli V, Bambini F, Buoso C, Facondo P, Gatta E, Girelli A, Cappelli C, and Ferlin A
- Abstract
Background: The potential impact of diabetes mellitus type 1 (DM1) on male fertility is currently poorly defined. Hyperglycaemia and insulin deficiency may affect spermatogenesis. Some evidence suggests that men with DM1 have a significant reduction in progressive sperm motility, sperm morphology and semen volume, without significant changes in sperm concentration and count, but definite data are lacking., Objectives: To evaluate the impact of DM1 on clinical parameters related to male fertility and semen analysis., Materials and Methods: We compared a court of 42 male DM1 patients with 43 nondiabetic subjects overlapping in age and remaining clinical data in an observational case-control study. All subjects underwent a comprehensive andrological reproductive evaluation, including medical history, physical examination, and semen analysis. We collected biochemical data in all patients with DM1, while diabetic patients with any alteration in semen parameters underwent sperm culture and scrotal ultrasound. In addition, all men completed the IIEF-5 questionnaire (International Index of Erectile Function-5) and the AMS (Aging Male Symptom score) questionnaire., Results: Patients with DM1 had a higher prevalence of infertility, erectile dysfunction and worse semen parameters compared with controls. In particular, semen volume, total sperm count, and total and progressive sperm motility were significantly lower (p < 0.001, p = 0.003, p = 0.048, and p = 0.022 respectively). In addition, the rate of semen anti-sperm antibody positivity, the AMS score and FSH levels were higher., Discussion and Conclusion: Several mechanisms may contribute to these semen alterations in DM1 patients, such as oxidative damage to spermatogenesis, seminal infections and pelvic neurological changes. These data suggest that patients with DM1 should be counselled from an andrological-reproductive point of view., (© 2024 American Society of Andrology and European Academy of Andrology.)
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- 2024
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11. Soft tissue sarcomas of the proximal adductor area of the thigh: Indications, results and complications at medium follow-up in a series of 43 surgically treated patients.
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Pagnoni C, Zoccali G, Scotto di Uccio A, Sperati F, Favale L, Valeri S, Annovazzi A, Petrongari MG, Anelli V, Ferraresi V, and Zoccali C
- Abstract
Introduction: When Soft Tissue Sarcomas are localized in the groin area, they pose specific challenges due to their proximity to important structures. These tumors exhibit elevated complication rates and a higher local recurrence rate compared to their locations in other limbs. The objective of this paper is to analyze a series of patients affected by soft tissue sarcomas in the adductor area of the proximal thigh. The analysis aims to elucidate the epidemiology, diagnostic and therapeutic approaches, complications, and outcomes. Additionally, the study seeks potential prognostic factors and to determine patients at a heightened risk of postoperative complications., Patients and Methods: all patients who underwent surgeries for primary soft tissue sarcomas of the adductor area between October 2006 and March 2022 in a tertiary research hospital were valued. Epidemiology, tumor characteristics and therapeutic approaches were analyzed to identify risk factors for complications and local recurrences; survival was considered a secondary outcome., Results: The series comprised 43 patients, 26 males and 17 females, with an average age of 63.3 years. The most frequent histology was liposarcoma, followed by undifferentiated forms. All patients reported the presence of masses, with associated pain in 27.9% of cases. Limb-sparing surgery was performed in 86.0% of cases. Early and late complications were experienced by 34.9% and 20.0% of patients, respectively, with wound dehiscence being the most frequent problem. The recurrence rate was 9.3%, with no recurrences observed in low-grade patients. At an average follow-up of 51 months, 18 patients (41.9%) were alive, two of which with distant metastases., Conclusion: The present series provides evidence that when Soft Tissue Sarcomas localized in the groin area are managed in specialized centers, the rates of recurrence and complications are not significantly different from those observed in other anatomical sites., Competing Interests: none., (© 2024 Professor P K Surendran Memorial Education Foundation. Published by Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.)
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- 2024
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12. Statin use and incident type 2 diabetes mellitus in women after menopause.
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Anelli V, Armeni E, Paschou SA, and Lambrinoudaki I
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- Male, Female, Humans, Menopause, Secondary Prevention, Risk Factors, Diabetes Mellitus, Type 2 epidemiology, Diabetes Mellitus, Type 2 prevention & control, Hydroxymethylglutaryl-CoA Reductase Inhibitors adverse effects, Cardiovascular Diseases etiology, Cardiovascular Diseases prevention & control
- Abstract
Menopause is associated with adverse cardiometabolic changes which increase the risk of new-onset type 2 diabetes (T2DM) and cardiovascular disease (CVD). Statins are widely used for primary and secondary CVD prevention, given their beneficial effects on the lipid profile and the vessel wall. On the other hand, statins increase the risk of T2DM. This association has been evaluated mainly in mixed-gender studies, without gender-specific evaluation. This narrative review evaluates the use of statins and the related risk of new-onset T2DM among postmenopausal women. Studies that incorporated a gender-specific analysis report a higher risk of new-onset T2DM in women than in men on treatment with statins. Fewer studies evaluated female-only samples; these confirm the observed association between statin use and new-onset T2DM. Factors influencing the association between statin use and T2DM include the type and dose of statin and the baseline metabolic status. Women may benefit from stratification of their metabolic risk before initiating a statin for CVD prevention., Competing Interests: Declaration of competing interest The authors declare that they have no competing interest., (Copyright © 2024 Elsevier B.V. All rights reserved.)
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- 2024
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13. X-rays radiomics-based machine learning classification of atypical cartilaginous tumour and high-grade chondrosarcoma of long bones.
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Gitto S, Annovazzi A, Nulle K, Interlenghi M, Salvatore C, Anelli V, Baldi J, Messina C, Albano D, Di Luca F, Armiraglio E, Parafioriti A, Luzzati A, Biagini R, Castiglioni I, and Sconfienza LM
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- Humans, Retrospective Studies, X-Rays, Radiomics, Magnetic Resonance Imaging methods, Machine Learning, Bone Neoplasms diagnostic imaging, Bone Neoplasms pathology, Chondrosarcoma diagnostic imaging, Chondrosarcoma pathology
- Abstract
Background: Atypical cartilaginous tumour (ACT) and high-grade chondrosarcoma (CS) of long bones are respectively managed with active surveillance or curettage and wide resection. Our aim was to determine diagnostic performance of X-rays radiomics-based machine learning for classification of ACT and high-grade CS of long bones., Methods: This retrospective, IRB-approved study included 150 patients with surgically treated and histology-proven lesions at two tertiary bone sarcoma centres. At centre 1, the dataset was split into training (n = 71 ACT, n = 24 high-grade CS) and internal test (n = 19 ACT, n = 6 high-grade CS) cohorts, respectively, based on the date of surgery. At centre 2, the dataset constituted the external test cohort (n = 12 ACT, n = 18 high-grade CS). Manual segmentation was performed on frontal view X-rays, using MRI or CT for preliminary identification of lesion margins. After image pre-processing, radiomic features were extracted. Dimensionality reduction included stability, coefficient of variation, and mutual information analyses. In the training cohort, after class balancing, a machine learning classifier (Support Vector Machine) was automatically tuned using nested 10-fold cross-validation. Then, it was tested on both the test cohorts and compared to two musculoskeletal radiologists' performance using McNemar's test., Findings: Five radiomic features (3 morphology, 2 texture) passed dimensionality reduction. After tuning on the training cohort (AUC = 0.75), the classifier had 80%, 83%, 79% and 80%, 89%, 67% accuracy, sensitivity, and specificity in the internal (temporally independent) and external (geographically independent) test cohorts, respectively, with no difference compared to the radiologists (p ≥ 0.617)., Interpretation: X-rays radiomics-based machine learning accurately differentiates between ACT and high-grade CS of long bones., Funding: AIRC Investigator Grant., Competing Interests: Declaration of interests Matteo Interlenghi: CTO and employee of DeepTrace Technologies. DeepTrace Technologies is a spin-off of Scuola Universitaria Superiore IUSS, Pavia, Italy; shareholder in DeepTrace Technologies. Christian Salvatore: CEO of DeepTrace Technologies. DeepTrace Technologies is a spin-off of Scuola Universitaria Superiore IUSS, Pavia, Italy; shareholder in DeepTrace Technologies. Isabella Castiglioni: Shareholder in DeepTrace Technologies. All other authors declare that they have no conflicts of interest to disclose., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
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- 2024
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14. Myxedema coma secondary to levothyroxine malabsorption in a patient previously submitted to bariatric surgery.
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Buoso C, Cavadini M, Facondo P, Anelli V, Maltese V, Bambini F, Gatta E, Delbarba A, Cappelli C, and Pirola I
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- Humans, Male, Adult, Hypothyroidism drug therapy, Hypothyroidism complications, Thyroxine pharmacokinetics, Thyroxine therapeutic use, Thyroxine administration & dosage, Myxedema etiology, Myxedema drug therapy, Malabsorption Syndromes etiology, Bariatric Surgery adverse effects, Coma etiology
- Abstract
Treating hypothyroidism can be challenging in patients with malabsorption, as they require a higher daily dose of oral levothyroxine (L-T4). Oral L-T4 absorption occurs mainly in the jejunum and the ileum and is affected by gastric acidity. As a result, absorption can be impaired by bariatric surgery. This paper presents a case of myxedema in a young man who had previously undergone biliopancreatic diversion. He was referred to the Emergency Department with deteriorated mental state, hypotension, bradycardia and hypothermia. Laboratory tests revealed severe hypothyroidism and hypokalaemia. The clinical and biochemical profile of the patient suggested myxedema coma. The tablet-based L-T4 therapy was replaced with intravenous (iv) L-T4, oral liquid L-T4 and oral liothyronine (L-T3) and inotropic agents and supportive care were also administered, resulting in a gradual improvement in clinical condition. The patient reported taking L-T4 tablets as prescribed before hospitalization. In patients with malabsorption, impaired L-T4 absorption may lead to severe forms of hypothyroidism. This case outlines the need for more frequent monitoring of serum Thyroid Stimulating Hormone in patients submitted to bariatric surgery and suggests the benefit of using liquid L-T4 in the place of tablets in cases of malabsorption., Competing Interests: Disclosure: no potential conflict of interest relevant to this article was reported.
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- 2024
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15. Strong chemotaxis by marine bacteria towards polysaccharides is enhanced by the abundant organosulfur compound DMSP.
- Author
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Clerc EE, Raina JB, Keegstra JM, Landry Z, Pontrelli S, Alcolombri U, Lambert BS, Anelli V, Vincent F, Masdeu-Navarro M, Sichert A, De Schaetzen F, Sauer U, Simó R, Hehemann JH, Vardi A, Seymour JR, and Stocker R
- Subjects
- Ecosystem, Sulfur Compounds metabolism, Bacteria metabolism, Polysaccharides metabolism, Polymers metabolism, Chemotaxis physiology, Sulfonium Compounds metabolism
- Abstract
The ability of marine bacteria to direct their movement in response to chemical gradients influences inter-species interactions, nutrient turnover, and ecosystem productivity. While many bacteria are chemotactic towards small metabolites, marine organic matter is predominantly composed of large molecules and polymers. Yet, the signalling role of these large molecules is largely unknown. Using in situ and laboratory-based chemotaxis assays, we show that marine bacteria are strongly attracted to the abundant algal polysaccharides laminarin and alginate. Unexpectedly, these polysaccharides elicited stronger chemoattraction than their oligo- and monosaccharide constituents. Furthermore, chemotaxis towards laminarin was strongly enhanced by dimethylsulfoniopropionate (DMSP), another ubiquitous algal-derived metabolite. Our results indicate that DMSP acts as a methyl donor for marine bacteria, increasing their gradient detection capacity and facilitating their access to polysaccharide patches. We demonstrate that marine bacteria are capable of strong chemotaxis towards large soluble polysaccharides and uncover a new ecological role for DMSP in enhancing this attraction. These navigation behaviours may contribute to the rapid turnover of polymers in the ocean, with important consequences for marine carbon cycling., (© 2023. The Author(s).)
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- 2023
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16. Interference or Noninterference Between Soy and Levothyroxine: That Is the Question. A Narrative Review of Literature.
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Gatta E, Maltese V, Cavadini M, Anelli V, Bambini F, Buoso C, Facondo P, Pirola I, Delbarba A, and Cappelli C
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- Humans, Double-Blind Method, Drug Compounding, Prospective Studies, Randomized Controlled Trials as Topic, Tablets, Thyroxine metabolism, Soy Foods
- Abstract
Objective: To evaluate the effect of soy intake on levothyroxine (L-T4) absorption among different L-T4 formulations., Methods: A PubMed/MEDLINE, Web of Science, and Scopus research was performed. Case reports, case series, and original studies written in English and published online up to November 30, 2022, were selected and reviewed. The final reference list was defined based on the relevance of each study to the scope of this review., Results: Few data, mainly case reports, seemed to suggest a possible interference of soy products on L-T4 tablets absorption. However, the only prospective randomized cross-over study showed no differences in L-T4 absorption when L-T4 and soy isoflavones were assumed concomitantly. The very little data available on liquid L-T4 formulations did not allow for any conclusions to be made, even if a double-blind placebo-controlled trial showed no impaired L-T4 absorption., Conclusion: The inference of soy products on L-T4 absorption, if present, seems to have little clinical impact. Considering this fact, the Hamlet-like question whether soy milk interferes with L-T4 absorption remains unanswered., Competing Interests: Disclosure The authors have no multiplicity of interest to disclose., (Copyright © 2023 AACE. Published by Elsevier Inc. All rights reserved.)
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- 2023
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17. Autoimmune polyglandular syndrome type 4: experience from a single reference center.
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Gatta E, Anelli V, Cimino E, Di Lodovico E, Piovani E, Zammarchi I, Gozzoli G, Maltese V, Cavadini M, Agosti B, Delbarba A, Pirola I, Girelli A, Buoso C, Bambini F, Alfieri D, Bremi W, Facondo P, Lupo R, Bezzi F, Fredi M, Mazzola AM, Gandossi E, Saullo M, Marini F, Licini M, Pezzaioli LC, Pini L, Franceschini F, Ricci C, and Cappelli C
- Subjects
- Adolescent, Adult, Child, Female, Humans, Male, Young Adult, Retrospective Studies, Syndrome, Celiac Disease complications, Celiac Disease diagnosis, Celiac Disease epidemiology, Diabetes Mellitus, Type 1 epidemiology, Polyendocrinopathies, Autoimmune diagnosis, Polyendocrinopathies, Autoimmune epidemiology, Primary Ovarian Insufficiency
- Abstract
Purpose: To characterize patients with APS type 4 among those affected by APS diagnosed and monitored at our local Reference Center for Autoimmune Polyglandular Syndromes., Methods: Monocentric observational retrospective study enrolling patients affected by APS diagnosed and monitored in a Reference Center. Clinical records were retrieved and analyzed., Results: 111 subjects (51 males) were affected by APS type 4, mean age at the onset was 23.1 ± 15.1 years. In 15 patients the diagnosis of APS was performed during the first clinical evaluation, in the other 96 after a latency of 11 years (range 1-46). The most frequent diseases were type I diabetes mellitus and celiac disease, equally distributed among sexes., Conclusions: The prevalence of APS type 4 is 9:100,000 people. Type I diabetes mellitus was the leading indicator of APS type 4 in 78% subjects and in 9% permitted the diagnosis occurring as second manifestation of the syndrome. Our data, showing that 50% of patients developed APS type 4 within the first ten years, don't suggest any particular follow-up time and, more importantly, don't specify any particular disease. It is important to emphasize that 5% of women developed premature ovarian failure., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Gatta, Anelli, Cimino, Di Lodovico, Piovani, Zammarchi, Gozzoli, Maltese, Cavadini, Agosti, Delbarba, Pirola, Girelli, Buoso, Bambini, Alfieri, Bremi, Facondo, Lupo, Bezzi, Fredi, Mazzola, Gandossi, Saullo, Marini, Licini, Pezzaioli, Pini, Franceschini, Ricci and Cappelli.)
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- 2023
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18. MRI radiomics-based machine learning for classification of deep-seated lipoma and atypical lipomatous tumor of the extremities.
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Gitto S, Interlenghi M, Cuocolo R, Salvatore C, Giannetta V, Badalyan J, Gallazzi E, Spinelli MS, Gallazzi M, Serpi F, Messina C, Albano D, Annovazzi A, Anelli V, Baldi J, Aliprandi A, Armiraglio E, Parafioriti A, Daolio PA, Luzzati A, Biagini R, Castiglioni I, and Sconfienza LM
- Subjects
- Humans, Retrospective Studies, Magnetic Resonance Imaging, Extremities, Machine Learning, Liposarcoma pathology, Lipoma diagnostic imaging
- Abstract
Purpose: To determine diagnostic performance of MRI radiomics-based machine learning for classification of deep-seated lipoma and atypical lipomatous tumor (ALT) of the extremities., Material and Methods: This retrospective study was performed at three tertiary sarcoma centers and included 150 patients with surgically treated and histology-proven lesions. The training-validation cohort consisted of 114 patients from centers 1 and 2 (n = 64 lipoma, n = 50 ALT). The external test cohort consisted of 36 patients from center 3 (n = 24 lipoma, n = 12 ALT). 3D segmentation was manually performed on T1- and T2-weighted MRI. After extraction and selection of radiomic features, three machine learning classifiers were trained and validated using nested fivefold cross-validation. The best-performing classifier according to previous analysis was evaluated and compared to an experienced musculoskeletal radiologist in the external test cohort., Results: Eight features passed feature selection and were incorporated into the machine learning models. After training and validation (74% ROC-AUC), the best-performing classifier (Random Forest) showed 92% sensitivity and 33% specificity in the external test cohort with no statistical difference compared to the radiologist (p = 0.474)., Conclusion: MRI radiomics-based machine learning may classify deep-seated lipoma and ALT of the extremities with high sensitivity and negative predictive value, thus potentially serving as a non-invasive screening tool to reduce unnecessary referral to tertiary tumor centers., (© 2023. The Author(s).)
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- 2023
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19. Liquid levothyroxine formulations in patients taking drugs interfering with L-T4 absorption.
- Author
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Gatta E, Bambini F, Buoso C, Gava M, Maltese V, Anelli V, Delbarba A, Pirola I, and Cappelli C
- Subjects
- Humans, Drug Compounding, Capsules, Proton Pump Inhibitors, Thyroxine therapeutic use, Thyroid Gland
- Abstract
Purpose: To describe the current knowledge on thyroid hormonal profile in patients on liquid L-T4 therapy and drugs known to interfere with L-T4 absorption., Methods: A PubMed/MEDLINE, Web of Science, and Scopus research was performed. Case reports, case series, original studies and reviews written in English and published online up to 31 August 2022 were selected and reviewed. The final reference list was defined based on the relevance of each paper to the scope of this review., Results: The available data showed that novel levothyroxine formulations circumvent gastric pH impairment due to multiple interfering drugs such as proton pump inhibitors, calcium or iron supplements, sevelamer, aluminum/magnesium hydroxide and sodium alginate., Conclusion: New formulations can be taken simultaneously with drugs interfering with L-T4 absorption, in particular liquid formulations. Softgel capsules need more studies to support these data., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Gatta, Bambini, Buoso, Gava, Maltese, Anelli, Delbarba, Pirola and Cappelli.)
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- 2022
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20. 3D vs. 2D MRI radiomics in skeletal Ewing sarcoma: Feature reproducibility and preliminary machine learning analysis on neoadjuvant chemotherapy response prediction.
- Author
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Gitto S, Corino VDA, Annovazzi A, Milazzo Machado E, Bologna M, Marzorati L, Albano D, Messina C, Serpi F, Anelli V, Ferraresi V, Zoccali C, Aliprandi A, Parafioriti A, Luzzati A, Biagini R, Mainardi L, and Sconfienza LM
- Abstract
Objective: The extent of response to neoadjuvant chemotherapy predicts survival in Ewing sarcoma. This study focuses on MRI radiomics of skeletal Ewing sarcoma and aims to investigate feature reproducibility and machine learning prediction of response to neoadjuvant chemotherapy., Materials and Methods: This retrospective study included thirty patients with biopsy-proven skeletal Ewing sarcoma, who were treated with neoadjuvant chemotherapy before surgery at two tertiary sarcoma centres. 7 patients were poor responders and 23 were good responders based on pathological assessment of the surgical specimen. On pre-treatment T1-weighted and T2-weighted MRI, 2D and 3D tumour segmentations were manually performed. Features were extracted from original and wavelet-transformed images. Feature reproducibility was assessed through small geometrical transformations of the regions of interest mimicking multiple manual delineations, and intraclass correlation coefficient >0.75 defined feature reproducibility. Feature selection also consisted of collinearity and significance analysis. After class balancing in the training cohort, three machine learning classifiers were trained and tested on unseen data using hold-out cross-validation., Results: 1303 (77%) 3D and 620 (65%) 2D radiomic features were reproducible. 4 3D and 4 2D features passed feature selection. Logistic regression built upon 3D features achieved the best performance with 85% accuracy (AUC=0.9) in predicting response to neoadjuvant chemotherapy., Conclusion: Compared to 2D approach, 3D MRI radiomics of Ewing sarcoma had superior reproducibility and higher accuracy in predicting response to neoadjuvant chemotherapy, particularly when using logistic regression classifier., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Gitto, Corino, Annovazzi, Milazzo Machado, Bologna, Marzorati, Albano, Messina, Serpi, Anelli, Ferraresi, Zoccali, Aliprandi, Parafioriti, Luzzati, Biagini, Mainardi and Sconfienza.)
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- 2022
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21. Malignant Transformation of Giant Cell Tumour of Bone: A Review of Literature and the Experience of a Referral Centre.
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Vari S, Riva F, Onesti CE, Cosimati A, Renna D, Biagini R, Baldi J, Zoccali C, Anelli V, Annovazzi A, Covello R, Ascione A, Casini B, and Ferraresi V
- Subjects
- Cell Transformation, Neoplastic genetics, Denosumab, Humans, Referral and Consultation, Bone Neoplasms pathology, Giant Cell Tumor of Bone diagnosis, Giant Cell Tumor of Bone genetics, Giant Cell Tumor of Bone pathology
- Abstract
Giant cell tumour of bone (GCTB) is a benign, locally aggressive primary bone neoplasm that represents 5% of all bone tumours. The principal treatment approach is surgery. Although generally GCTB is considered only a locally aggressive disease, it can metastasise, and lung metastases occur in 1-9% of patients. To date, only the use of denosumab has been approved as medical treatment for GCTB. Even more rarely, GCTB undergoes sarcomatous transformation into a malignant tumour (4% of all GCTB), but history of this malignant transformation is unclear and unpredictable. Considering the rarity of the event, the data in the literature are few. In this review, we summarise published data of GCTB malignant transformation and we analyse three cases of malignant transformation of GCTB, evaluating histopathology, genetics, and radiological aspects. Despite the rarity of this event, we conclude that a strict follow up is recommended to detect early malignant transformation., Competing Interests: The authors declare no conflict of interest.
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- 2022
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22. Inhibition of FGF receptor blocks adaptive resistance to RET inhibition in CCDC6-RET-rearranged thyroid cancer.
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Raman R, Villefranc JA, Ullmann TM, Thiesmeyer J, Anelli V, Yao J, Hurley JR, Pauli C, Bareja R, Wha Eng K, Dorsaint P, Wilkes DC, Beg S, Kudman S, Shaw R, Churchill M, Ahmed A, Keefer L, Misner I, Nichol D, Gumpeni N, Scognamiglio T, Rubin MA, Grandori C, Solomon JP, Song W, Mosquera JM, Dephoure N, Sboner A, Elemento O, and Houvras Y
- Subjects
- Animals, Cytoskeletal Proteins genetics, Humans, Proteomics, Proto-Oncogene Proteins c-ret genetics, Receptors, Fibroblast Growth Factor, Lung Neoplasms pathology, Thyroid Neoplasms drug therapy, Thyroid Neoplasms genetics
- Abstract
Genetic alterations in RET lead to activation of ERK and AKT signaling and are associated with hereditary and sporadic thyroid cancer and lung cancer. Highly selective RET inhibitors have recently entered clinical use after demonstrating efficacy in treating patients with diverse tumor types harboring RET gene rearrangements or activating mutations. In order to understand resistance mechanisms arising after treatment with RET inhibitors, we performed a comprehensive molecular and genomic analysis of a patient with RET-rearranged thyroid cancer. Using a combination of drug screening and proteomic and biochemical profiling, we identified an adaptive resistance to RET inhibitors that reactivates ERK signaling within hours of drug exposure. We found that activation of FGFR signaling is a mechanism of adaptive resistance to RET inhibitors that activates ERK signaling. Combined inhibition of FGFR and RET prevented the development of adaptive resistance to RET inhibitors, reduced cell viability, and decreased tumor growth in cellular and animal models of CCDC6-RET-rearranged thyroid cancer., (© 2022 Raman et al.)
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- 2022
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23. Zebrafish Melanoma-Derived Interstitial EVs Are Carriers of ncRNAs That Induce Inflammation.
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Biagini V, Busi F, Anelli V, Kerschbamer E, Baghini M, Gurrieri E, Notarangelo M, Pesce I, van Niel G, D'Agostino VG, and Mione M
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- Animals, Inflammation genetics, Inflammation metabolism, RNA, Untranslated metabolism, Zebrafish genetics, Extracellular Vesicles metabolism, Melanoma genetics, Melanoma metabolism
- Abstract
Extracellular vesicles (EVs) are membranous particles released by all cell types. Their role as functional carrier of bioactive molecules is boosted by cells that actively secrete them in biological fluids or in the intercellular space (interstitial EVs, iEVs). Here we have optimised a method for the isolation and characterization of zebrafish iEVs from whole melanoma tissues. Zebrafish melanoma iEVs are around 140 nm in diameter, as determined by nanoparticle tracking and transmission electron microscopy (TEM) analysis. Western blot analysis shows enrichment for CD63 and Alix in the iEV fraction, but not in melanoma cell lysates. Super resolution and confocal microscopy reveal that purified zebrafish iEVs are green fluorescent protein positive (GFP+), indicating that they integrate the oncogene GFP-HRAS
V12G used to induce melanoma in this model within their vesicular membrane or luminal content. Analysis of RNA-Seq data found 118 non-coding (nc)RNAs differentially distributed between zebrafish melanoma and their iEVs, with only 17 of them being selectively enriched in iEVs. Among these, the RNA components of RNAses P and MRP, which process ribosomal RNA precursors, mitochondrial RNAs, and some mRNAs, were enriched in zebrafish and human melanoma EVs, but not in iEVs extracted from brain tumours. We found that melanoma iEVs induce an inflammatory response when injected in larvae, with increased expression of interferon responsive genes, and this effect is reproduced by MRP- or P-RNAs injected into circulation. This suggests that zebrafish melanoma iEVs are a source of MRP- and P-RNAs that can trigger inflammation in cells of the innate immune system.- Published
- 2022
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24. The impact of diabetes mellitus type 1 on male fertility: Systematic review and meta-analysis.
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Facondo P, Di Lodovico E, Delbarba A, Anelli V, Pezzaioli LC, Filippini E, Cappelli C, Corona G, and Ferlin A
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- Child, Fertility, Humans, Male, Semen, Semen Analysis, Sperm Count, Sperm Motility, Spermatozoa, Diabetes Mellitus, Infertility, Male etiology
- Abstract
Background: Some evidence suggests that diabetes mellitus type 1 (DM1) could affect male fertility, gonadal axis, semen parameters, and spermatogenesis because of effects of hyperglycemia and insulin deficiency. Anyhow, the exact impact of DM1 on male fertility is unclear., Objectives: To review the studies evaluating paternity rate, male gonadal axis, and semen parameters in men with DM1., Materials and Methods: A review of relevant literature from January 1980 to December 2020 was performed. Only studies published in English reporting data on fatherhood (rate of children by natural fertility), hormonal and seminal parameters were included. Out of 14 retrieved articles, the eight studies evaluating semen parameters were meta-analyzed., Results: The rate of children (four studies) was lower than controls among men affected by DM1, especially in men with a longer duration of disease. The data of gonadal hormonal profile in DM1 men (six studies) are very heterogeneous and a neutral effect of DM1 or a condition of subclinical hypogonadism could not be concluded. Meta-analysis showed that men with DM1 (n = 380), compared with controls (n = 434), have significantly lower normal sperm morphology [-0.36% (-0.66; -0.06), p < 0.05, six studies] and sperm progressive motility [33.62% (-39.13; -28.11), p < 0.001, two studies] and a trend toward a lower seminal volume [-0.51 (-1.03; 0.02), p = 0.06, eight studies], without difference in total sperm count and concentration. Data on scrotal ultrasound and sperm DNA fragmentation are too few. No study evaluated other factors of male infertility, such as transrectal ultrasound, semen infections, sperm auto-antibodies, and retrograde ejaculation., Discussion: DM1 might impair male fertility and testis functions (endocrine, spermatogenesis), but definition of its actual impact needs further studies., Conclusion: Men with DM1 should be evaluated with a complete hormonal, seminal, and ultrasound workup to better define their fertility potential and need for follow up of testis functions., (© 2021 American Society of Andrology and European Academy of Andrology.)
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- 2022
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