110 results on '"Guerri G"'
Search Results
2. BEHAVIORAL OUTCOME OF LAPAROSCOPIC OVARIECTOMY: A CASE SERIES
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Stratico, P., Hattab, J., Varasano, V., Carluccio, A., Guerri, G., Celani, G., Bandera, L., and Petrizzi, L.
- Published
- 2023
3. The Role of Olive Tree Polyphenols in the Prevention of COVID-19: A Scoping Review, part 1.
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Bonetti, G., Donato, K., Medori, M. C., Cecchin, S., Marceddu, G., Gadler, M., Guerri, G., Cristofoli, F., Connelly, S. T., Gaffuri, F., Tartaglia, G. M., Nodari, S., Arabia, G., Fioretti, F., Gregorace, E., Perrone, M. A., and Bertelli, M.
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OLIVE ,HEALTH outcome assessment ,COVID-19 pandemic ,POLYPHENOLS ,VERBASCOSIDE - Abstract
The global COVID-19 outbreak, started in December 2019, resulted in severe financial losses and extraordinary health crises. Finding a potent and secure medication candidate to treat SARS-CoV-2 infection and its symptoms is still an urgent global need. After reviewing previous studies, olive leaves, being rich in polyphenolic compounds (a large class of bioactive substances naturally found in plants), were proposed as a viable co-therapy supplement to treat and improve clinical symptoms in COVID-19 patients. It has long been known that olive tree polyphenols--such as oleuropein, hydroxytyrosol, verbascoside, as well as triterpenoids like maslinic, ursolic, and oleanolic acids--have anti-inflammatory and multitarget antiviral effects on several virus families, and they could be one of the reasons of the beneficial effects of the Mediterranean diet against COVID-19. Thus, olive tree polyphenols were tested in silico and in vitro for preventing SARS-CoV-2 infection, claiming that they have beneficial effects. Nevertheless, there is still a small number of research studies on this topic. The aim of this scoping review is to provide more information and offer an opinion on the feasibility of using olive tree polyphenols as a springboard for the creation of innovative natural remedies against this viral illness, ultimately planning future relevant studies. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Omics sciences and precision medicine in breast and ovarian cancer.
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Bonetti, G., Madeo, G., Michelini, S., Ricci, M., Cestari, M., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Bernini, A., Fulcheri, E., Stuppia, L., Gatta, V., Cecchin, S., and Marceddu, G.
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INDIVIDUALIZED medicine ,OVARIAN cancer ,BREAST cancer ,HEALTH outcome assessment ,BIOMARKERS - Abstract
Background: Human breast carcinoma is a complex disease, affecting 1 in 8 women worldwide. The seriousness of the disease increases when the definite cause of the disease remains obscure, thus making prognosis challenging. Researchers are emphasizing on adapting more advanced and targeted therapeutic approaches to address the multifaceted impacts of the disease. Hence, modern multi-omics systems have gained popularity among clinicians, as they offer insights into the genomic, pharmacogenomic, metabolomic, and micro-biomic factors, thus allowing researchers to develop targeted and personalized approaches for breast cancer prevention and early detection, and eventually improving patient outcomes. Aim. The primary focus of this study is to elucidate, through the integration of multi-omics research findings, the inherent molecular origins of diverse subtypes of breast cancer and to evaluate the effectiveness of these findings in reducing breast cancer-related mortalities. Methods. Thorough investigation was conducted by reviewing reputable and authoritative medical journals, e-books, and online databases dedicated to cancer research. The Mendelian inheritance in man database (OMIM) was used to scrutinize specific genes and their respective loci associated with the development of different types of breast cancer. Results. Our present research revealed the holistic picture of sundry molecular, genomic, pharmacogenomic, metabolomic, and micro-biomic features of breast cancer. Such findings, like genetic alterations in highly penetrant genes, plus metabolomic and micro-biomic signatures of breast cancer, unveil valuable insights and show great potential for multi-omics research in breast oncology. Conclusion. Further research in omics sciences pertaining to breast cancer are at the forefront of shaping precise treatment and bolstering patient survival. [ABSTRACT FROM AUTHOR]
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- 2023
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5. Omics sciences and precision medicine in prostate cancer.
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Medori, M. C., Micheletti, C., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Bernini, A., Fulcheri, E., Calogero, A. E., Cannarella, R., Stuppia, L., Gatta, V., Cecchin, S., Marceddu, G., and Bertelli, M.
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INDIVIDUALIZED medicine ,PROSTATE cancer ,METABOLOMICS ,METABOLITES ,HEALTH outcome assessment ,BIOMARKERS - Abstract
In the last decade, Prostate Cancer (PCa) has emerged as the second most prevalent and serious medical condition, and is considered one of the leading factors contributing to global mortality rates. Several factors (genetic as well as environmental) contribute to its development and seriousness. Since the disease is usually asymptomatic at early stages, it is typically misdiagnosed or over-diagnosed by the diagnostic procedures currently in use, leading to improper treatment. Effective biomarkers and diagnostic techniques are desperately needed in clinical settings for better management of PCa patients. Studies integrating omics sciences have shown that the accuracy and dependability of diagnostic and prognostic evaluations have increased because of the use of omics data; also, the treatment plans using omics can be facilitated by personalized medicine. The present review emphasizes innovative multi-omics methodologies, encompassing proteomics, genomics, microbiomics, metabolomics, and transcriptomics, with the aim of comprehending the molecular alterations that trigger and contribute to PCa. The review shows how early genomic and transcriptomic research has made it possible to identify PCa-related genes that are controlled by tumorrelevant signaling pathways. Proteomic and metabolomic analyses have recently been integrated, advancing our understanding of the complex mechanisms at play, the multiple levels of regulation, and how they interact. By applying the omics approach, new vulnerabilities may be discovered, and customized treatments with improved efficacy will soon be accessible. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Omics sciences and precision medicine in glioblastoma.
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Micheletti, C., Bonetti, G., Madeo, G., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Manganotti, P., Caruso, P., Bernini, A., Fulcheri, E., Stuppia, L., Gatta, V., Cecchin, S., and Marceddu, G.
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INDIVIDUALIZED medicine ,HEALTH outcome assessment ,GLIOBLASTOMA multiforme ,METABOLOMICS ,METABOLITES ,BIOMARKERS - Abstract
Glioblastoma is a highly aggressive and malignant type of brain cancer with a poor prognosis, despite current treatment options of surgery, radiation therapy, and chemotherapy. These treatments have limitations due to the aggressive nature of the cancer and the difficulty in completely removing the tumor without damaging healthy brain tissue. Personalized medicine, using genomic profiling to tailor treatment to the patient's specific tumor, and immunotherapy have shown promise in clinical trials. The blood-brain barrier also poses a challenge in delivering treatments to the brain, and researchers are exploring various approaches to bypass it. More effective, personalized treatment approaches are needed to improve outcomes for glioblastoma patients. This tumor is studied using genomics, transcriptomics, and proteomics techniques, to better understand its underlying molecular mechanisms. Recent studies have used these techniques to identify potential therapeutic targets, molecular subtypes, and heterogeneity of tumor cells. Advancements in omics sciences have improved our understanding of glioblastoma biology, and precision medicine approaches have implications for more accurate diagnoses, improved treatment outcomes, and personalized preventive care. Precision medicine can match patients with drugs that target specific genetic mutations, improve clinical trials, and identify individuals at higher risk for certain diseases. Precision medicine, which involves customizing medical treatment based on an individual's genetic makeup, lifestyle, and environmental factors, has shown promise in improving treatment outcomes for glioblastoma patients. Identifying biomarkers is essential for patient stratification and treatment selection in precision medicine approaches for glioblastoma, and several biomarkers have shown promise in predicting patient response to treatment. Targeted therapies are a key component of precision medicine approaches in glioblastoma, but there is still a need to improve their effectiveness. Technical challenges, such as sample quality and availability, and challenges in analyzing and interpreting large amounts of data remain significant obstacles in omics sciences and precision medicine for glioblastoma. The clinical implementation of precision medicine in glioblastoma treatment faces challenges related to patient selection, drug development, and clinical trial design, as well as ethical and legal considerations related to patient privacy, informed consent, and access to expensive treatments. [ABSTRACT FROM AUTHOR]
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- 2023
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7. Omics sciences and precision medicine in sarcoma.
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Bonetti, G., Donato, K., Dhuli, K., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Bernini, A., Fulcheri, E., Cavalca, D., Stuppia, L., Gatta, V., Cristoni, S., Cecchin, S., and Marceddu, G.
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INDIVIDUALIZED medicine ,SARCOMA ,HEALTH outcome assessment ,METABOLOMICS ,METABOLITES ,BIOMARKERS - Abstract
Background. Sarcomas are a relatively rare but diverse group of cancers that typically develop in the mesenchymal cells of bones and soft tissues. Occurring in more than 70 subtypes, sarcomas have broad histological presentations, posing significant challenges of prognosis and treatment. Modern multi-omics studies, which include genomics, proteomics, metabolomics, and micro-biomics, are vital to understand the underlying mechanisms of sarcoma development and progression, identify molecular biomarkers for early detection, develop personalized treatment plans, and discover drug resistance mechanisms in sarcomas to upsurge the survival rate. Aim. This study aims to highlight the genetic risk factors responsible for sarcoma-genesis, and to present a comprehensive review of multi-omics studies about sarcoma. Methods. Extensive literature research was undertaken using reliable and authentic medical journals, e-books, and online cancer research databases. Mendelian inheritance in man database (OMIM) was explored to study particular genes and their loci that are responsible to cause various sarcomas. Result. This in-depth research led to the finding out that omics studies provide a more comprehensive understanding of underlying molecular mechanisms of sarcomas. Through genomics, we can reveal genetic alterations that predispose to sarcoma, like mutation in TP53, NF1, and so on. Pharmacogenomics enable us to find molecular targets for specific drugs. Whereas, proteomic and metabolomic studies provide insights into the biological pathways involved in sarcoma development and progression. Conclusion. Future advancements in omics sciences for sarcoma are on the cutting-edge of defining precision treatment plans and improved resilience of sarcoma patients. [ABSTRACT FROM AUTHOR]
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- 2023
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8. Omics sciences and precision medicine in colon cancer.
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Madeo, G., Bonetti, G., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Bernini, A., Fulcheri, E., Iaconelli, A., Aquilanti, B., Matera, G., Stuppia, L., Gatta, V., Cecchin, S., and Marceddu, G.
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INDIVIDUALIZED medicine ,COLON cancer ,HEALTH outcome assessment ,METABOLOMICS ,METABOLITES ,BIOMARKERS - Abstract
Colon cancer presents a complex pathophysiological landscape, which poses a significant challenge to the precise prediction of patient prognosis and treatment response. However, the emergence of omics sciences such as genomics, transcriptomics, proteomics, and metabolomics has provided powerful tools to identify molecular alterations and pathways involved in colon cancer development and progression. To address the lack of literature exploring the intersection of omics sciences, precision medicine, and colon cancer, we conducted a comprehensive search in ScienceDirect and PubMed databases. We included systematic reviews, reviews, case studies, clinical studies, and randomized controlled trials that were published between 2015-2023. To refine our search, we excluded abstracts and non-English studies. This review provides a comprehensive summary of the current understanding of the latest developments in precision medicine and omics sciences in the context of colon cancer. Studies have identified molecular subtypes of colon cancer based on genomic and transcriptomic profiles, which have implications for prognosis and treatment selection. Furthermore, precision medicine (which involves tailoring treatments, based on the unique molecular characteristics of each patient's tumor) has shown promise in improving outcomes for colon cancer patients. Omics sciences and precision medicine hold great promise for identifying new therapeutic targets and developing more effective treatments for colon cancer. Although not strictly designed as a systematic review, this review provides a readily accessible and up-to-date summary of the latest developments in the field, highlighting the challenges and opportunities for future research. [ABSTRACT FROM AUTHOR]
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- 2023
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9. Omics sciences and precision medicine in lung cancer.
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Micheletti, C., Dhuli, K., Donato, K., Gadler, M., Benedetti, S., Guerri, G., Cristofoli, F., Generali, D., Donofrio, C. A., Cominetti, M., Fioravanti, A., Riccio, L., Bernini, A., Fulcheri, E., Stuppia, L., Gatta, V., Cristoni, S., Cecchin, S., Marceddu, G., and Bertelli, M.
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INDIVIDUALIZED medicine ,LUNG cancer ,HEALTH outcome assessment ,METABOLOMICS ,METABOLITES ,BIOMARKERS - Abstract
Lung cancer is a complex disease, with a wide range of genetic alterations and clinical presentations. Understanding the natural and clinical history of the disease is crucial for developing effective diagnostic and treatment strategies. Omics approaches, such as genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools for understanding the molecular mechanisms underlying lung cancer and for identifying novel biomarkers and therapeutic targets. These approaches enable researchers to examine the entire genome, transcriptome, proteome, or metabolome of a cell or tissue, providing a comprehensive view of the biological processes involved in lung cancer development and progression. Targeted therapies that address specific genetic mutations and pathways hold promise for improving the diagnosis and treatment of this disease. [ABSTRACT FROM AUTHOR]
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- 2023
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10. 2D-SWE OF THE METACARPOPHALANGEAL JOINT CAPSULE IN HORSES: PRELIMINARY DATA
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Straticò, P., Guerri, G., Palozzo, A., Celani, G., Di Nunzio, L., Schiesari, Camilla, Varasano, V., and Petrizzi, L.
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- 2022
11. THE USE OF PLATELET-RICH PLASMA (PRP) FOR TREATING TENODESMIC LESIONS IN HORSES: A RETROSPECTIVE STUDY
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Guerri, G, Straticò, P, Palozzo, A, Ianni, V, Ilaria, G, Di Nunzio, L, Celani, G, Varasano, V, and Petrizzi, L
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- 2022
12. TERATOMA OF AN INCOMPLETE ABDOMINALLY RETAINED TESTIS IN A HORSE
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Straticò, P, Guerri, G, Palozzo, A, Celani, G, Auzino, D, Di Nunzio, L, Varasano, V, Marruchella, G, and Petrizzi, L
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- 2022
13. Microbial biomass, respiration and enzyme activities after in situ aided phytostabilization of a Pb- and Cu-contaminated soil
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Kumpiene, J., Guerri, G., Landi, L., Pietramellara, G., Nannipieri, P., and Renella, G.
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- 2009
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14. Extracellular DNA in soil and sediment: fate and ecological relevance
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Pietramellara, G., Ascher, J., Borgogni, F., Ceccherini, M. T., Guerri, G., and Nannipieri, P.
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- 2009
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15. Non-syndromic monogenic male infertility
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Guerri, G, Maniscalchi, T, Barati, Busetto, Gm, Del Giudice, F, De Berardinis, E, Cannarella, R, Calogero, Ae, and Bertelli, M
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Male ,Male infertility ,Spermatogenic failure ,High-Throughput Nucleotide Sequencing ,Review ,Teratozoospermia ,male infertility, oligozoospermia, azoospermia, asthenozoospermia, teratozoospermia, spermatogenic failure, androgen insensitivity syndrome ,Asthenozoospermia ,Mutation ,Androgen insensitivity syndrome ,Azoospermia ,Oligozoospermia ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Infertility, Male - Abstract
Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in spermatogenic failure, leading to the following anomalies: insufficient (oligozoospermia) or no (azoospermia) sperm production, limited progressive and/or total sperm motility (asthenozoospermia), altered sperm morphology (teratozoospermia), or combinations thereof. Androgen insensitivity, causing hormonal and sexual impairment in males with normal karyotype, also affects male fertility. The genetic causes of non-syndromic monogenic of male infertility are summarized in this article and a gene panel is proposed. (www.actabiomedica.it)
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- 2019
16. Naturally-occurring and cultured bacteriophages in human therapy.
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KIANI, A. K., ANPILOGOV, K., DHULI, K., PAOLACCI, S., BENEDETTI, S., MANARA, E., GUERRI, G., DAUTAJ, A., BECCARI, T., DUNDAR, M., and BERTELLI, M.
- Abstract
OBJECTIVE: The aim of the study was to show the importance of developing techniques that could exploit the potential of bacteriophages as therapeutics or food supplements. MATERIALS AND METHODS: PubMed database was searched using the following combination of keywords: (bacteriophage) AND (human therapy); (natural bacteriophage) AND (application). RESULTS: The increasing antibiotic resistance of many bacterial strains is making standard antibiotic treatments less effective. Phage therapy provides a non-antibiotic alternative with greater specificity and without harmful effects on the human microbiota. Phages target their specific bacteria, replicate, and then, destroy the host pathogen. Bacteriophages may be administered by several routes, including topical, oral and intravenous. They not only destroy the host pathogen but, in some cases, increase the sensitivity of host bacteria to antibiotics. Various studies have shown that combining phage therapy and antibiotic treatment can be effective against bacterial infections. Clinical trials of phage therapy have shown promising results for various human diseases and conditions. With advances in genetic engineering and molecular techniques, bacteriophages will be able to target a wide range of bacteria. CONCLUSIONS: In the future, phage therapy promises to become an effective therapeutic option for bacterial infections. Since many potentially beneficial bacteriophages can be found in food, supplements containing bacteriophages could be designed to remodel gut microbiota and eliminate pathogenic bacteria. Remodeling of gut microbiota could correct gut dysbiosis. The order of phages known to have these promising activities is Caudovirales, especially the families Siphoviridae and Myoviridae. [ABSTRACT FROM AUTHOR]
- Published
- 2021
17. Improvement of quality of life by intake of hydroxytyrosol in patients with lymphedema and association of lymphedema genes with obesity.
- Author
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DHULI, K., CECCARINI, M. R., PRECONE, V., MALTESE, P. E., BONETTI, G., PAOLACCI, S., DAUTAJ, A., GUERRI, G., MARCEDDU, G., BECCARI, T., MICHELINI, S., and BERTELLI, M.
- Abstract
OBJECTIVE: Lymphedema is a debilitating disease and may be a comorbidity of obesity. New molecules have been investigated for the treatment of lymphedema; one of the most promising molecules is hydroxytyrosol. The aim of this study was to evaluate the association between mutations in genes mutated in lymphedema and the presence of obesity and making an estimate of the quality of life in lymphedema patients. MATERIALS AND METHODS: We recruited 71 Caucasian individuals with the diagnosis of primary lymphedema, and they undertook a questionnaire to assess their quality life. For this purpose, we developed a NGS custom-made panel comprising genes associated with lymphedema. RESULTS: An obesity rate of 20% was detected. The average Lymph-ICF-LL value for patients who consume olive oil daily was 20 with a better quality of life. Twenty-three patients resulted positive to the genetic test. Genetic variants with a likely association with obesity have been identified in PROX1, FOXC2 and FLT4. CONCLUSIONS: A obesity rate, higher than that reported by ISTAT, was detected. The use of olive oil enhances the quality of life of lymphedema patients. Moreover, a diagnostic approach by a NGS panel shows an association of lymphedema with obesity. [ABSTRACT FROM AUTHOR]
- Published
- 2021
18. Pheromone receptors and their putative ligands: possible role in humans.
- Author
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PRECONE, V., PAOLACCI, S., BECCARI, T., RAGIONE, L. DALLA, STUPPIA, L., BAGLIVO, M., GUERRI, G., MANARA, E., TONINI, G., HERBST, K. L., UNFER, V., and BERTELLI, M.
- Abstract
Pheromones are ectohormones that play an important role in communication and behavior. Pheromones and pheromone receptor genes are important in mice and other mammals that rely heavily on pheromone cues to survive. Although there is controversy about whether pheromones and pheromone receptor genes have the same importance or are even active in humans, there are some hints that they might have roles in sociosexual behavior and mental disorders. The aim of this qualitative review was to provide an overview of the state of the art regarding pheromones and pheromone receptors in humans and their possible implications in human physiology and pathology. An electronic search was conducted in MEDLINE, PubMed and Scopus databases for articles published in English up to December 2018. The search concerned a possible role of pheromones and pheromone receptors in humans with implications for sociosexual behavior, mental disorders, the menstrual cycle and nutrition. Pheromone communication in humans has not been definitively demonstrated. However, the potential ability of putative pheromones to activate the hypothalamus, which controls the release of many hormones, suggests they could have a role in systemic functions in humans. Future confirmation of the effects of pheromones and pheromone receptors in humans could be useful in the prevention and treatment of various human disorders. [ABSTRACT FROM AUTHOR]
- Published
- 2020
19. Analysis of machine learning algorithms as integrative tools for validation of next generation sequencing data.
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MARCEDDU, G., DALLAVILLA, T., GUERRI, G., ZULIAN, A., MARINELLI, C., and BERTELLI, M.
- Abstract
OBJECTIVE: While next generation sequencing (NGS) has become the technology of choice for clinical diagnostics, most genetic laboratories still use Sanger sequencing for orthogonal confirmation of NGS results. Previous studies have shown that when the quality of NGS data is high, most calls are indicated by Sanger sequencing, making confirmation redundant. We aimed at establishing a set of criteria that make it possible to distinguish NGS calls that need orthogonal confirmation from those that do not would significantly decrease the amount of work necessary to reach a diagnosis. MATERIALS AND METHODS: A data set of 7976 NGS calls confirmed as true or false positive by Sanger sequencing was used to train and test different machine learning (ML) approaches. By varying the size and class balance of the training dataset, we measured the performance of the different algorithms to determine the conditions under which ML is a valid approach for confirming NGS calls in a diagnostic environment. RESULTS: Our results indicate that machine learning is a valid approach to find variant calls that need more investigation, but in order to reach the high accuracy required in a clinical environment, the training data set must include enough observations and these observations must be well-balanced between true/false positive NGS calls. CONCLUSIONS: Our results show that it is possible to integrate the diagnostic NGS validation workflow with a machine learning approach to reduce the number of Sanger confirmations of high- quality NGS calls, reducing the time and costs of diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2019
20. Putative role of Brugada syndrome genes in familial atrial fibrillation.
- Author
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MALTESE, P. E., ALDANOVA, E., KRIUCHKOVA, N., AVERIANOV, A., MANARA, E., PAOLACCI, S., BRUSON, A., MIOTTO, R., SARTORI, M., GUERRI, G., ZUNTINI, M., MARCEDDU, G., TEZZELE, S., TADTAEVA, K., CHERNOVA, A., AKSYUTINA, N., NIKULINA, S., NODARI, S., and BERTELLI, M.
- Abstract
OBJECTIVE: Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and genetic basis is still not completely clear and genetic diagnosis cannot be achieved in about 90% of patients. In this study, we present the results of genetic screening by next generation sequencing in affected Russian families. PATIENTS AND METHODS: Sixty subjects (18 probands and 42 relatives) with a clinical diagnosis of FAF were enrolled in the study. Since AF frequently associates with other cardiomyopathies, we included all genes that were known to be associated with these disorders at the time of our study. All probands were therefore systematically screened for 47 genes selected from the literature. RESULTS: Our study revealed that seven variants co-segregated with the clinical phenotype in seven families. Interestingly, four out of six genes and three out of seven variants have already been associated with Brugada syndrome in the literature. CONCLUSIONS: To our knowledge, this is the first report of association of the CACNA1C, CTNNA3, PKP2, ANK2 and SCN10A genes with FAF; it is also the first study in Russian families. [ABSTRACT FROM AUTHOR]
- Published
- 2019
21. PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics.
- Author
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MARCEDDU, G., DALLAVILLA, T., GUERRI, G., MANARA, E., CHIURAZZI, P., and BERTELLI, M.
- Abstract
OBJECTIVE: We describe how to set up a custom workflow for the analysis of next generation sequencing (NGS) data suitable for the diagnosis of genetic disorders and that meets the strictest standards of quality and accuracy. Our method goes from DNA extraction to data analysis with a computational in-house pipeline. The system was extensively validated using three publicly available Coriell samples, estimating accuracy, sensitivity and specificity. Multiple runs were also made to assess repeatability and reproducibility. MATERIALS AND METHODS: Three different Coriell samples were analyzed in a single run to perform coverage, sensitivity, specificity, accuracy, reproducibility and repeatability analysis. The three samples were analyzed with a custom-made oligonucleotide probe library using Nextera Rapid Capture enrichment technique and subsequently quantified using the Qubit method. Sample quality was verified using a 4200 TapeStation and sequenced on a MiSeq personal sequencer. Analysis of NGS data was then performed with a custom pipeline. RESULTS: The workflow enabled an accurate and precise analysis of NGS data that meets all the requirements of quality and accuracy required by international standards such as ISO15189 and the Association of Molecular Pathology. CONCLUSIONS: The proposed analysis/validation workflow has high assay accuracy, precision and robustness and can, therefore, be used for clinical diagnostic applications. [ABSTRACT FROM AUTHOR]
- Published
- 2019
22. A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy
- Author
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ESPOSITO, GABRIELLA, BOCCIA, ANGELO, DE FALCO, FRANCESCA, PAOLELLA, GIOVANNI, SALVATORE, FRANCESCO, D'ARGENIO, VALERIA, Guerri G, Sauchelli G, Tandurella ICM, D’Antonio M, Società Italiana di Biochimica Clinica, Esposito, Gabriella, D'Argenio, Valeria, Guerri, G, Sauchelli, G, Boccia, Angelo, Tandurella, Icm, D’Antonio, M, DE FALCO, Francesca, Paolella, Giovanni, and Salvatore, Francesco
- Subjects
next generation sequencing ,retiniti ,mutation - Abstract
Background: To date, 22 different genes have been associated to autosomal dominant retinitis pigmentosa (ADRP), but they account for only 50% of cases worldwide. Methods: We analyzed by DHPLC and sequencing the major ADRP genes, namely, rhodopsin (RHO), peripherin 2 (PRPH2), retinitis pigmentosa 1 (RP1) and con-rod homeobox containing gene (CRX), in 130 Italian families affected by ADRP. To expand our data, we analyzed by DNA sequence capture and next-generation sequencing 260 genes associated to inherited eye diseases in three ADRP patients without mutations in RHO, RP1, RDS and CRX. Results: In 17 of the studied ADRP families (13%), we identified eleven different potentially pathogenic mutations. In our ADRP patients, the relative involvement of RHO (
- Published
- 2013
23. PIPE-MAGI, Bioinformatic system for the analysis of NGS data
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Bertelli, M., Marceddu, G., Dallavilla, T., Guerri, G., Maltese, P.E., Manara, E., and Paolacci, S.
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- 2019
- Full Text
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24. Is microbial species richness increased by aided phytostabilization of trace element contaminated soils?
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Ascher, J., Ceccherini, M.T., Guerri, G., Kumpiene, Jurate, Landi, L., Mench, Michel, Nannipieri, P., Pietramellara, G., and Renella, Giancarlo
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Other Environmental Engineering ,Annan naturresursteknik - Abstract
Godkänd; 2007; 20081015 (juku)
- Published
- 2008
25. Development of coronagraphs for optics for exoplanet detection with SPHERE
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Boccaletti, A., Baudrand, J., Riaud, P., Baudoz, P., Rousset, G., Daban, J.-B., Carbillet, M., Douet, R., Guerri, G., Robbe-Dubois, S., Bendjoya, Ph., Laboratoire Hippolyte Fizeau (FIZEAU), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, and Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)
- Abstract
In the spirit of Bernard Lyot: the direct detection of planets and circumstellar disks in the 21st century, ed. P. Kalas, n/a, (2007); International audience
- Published
- 2007
26. Multi Aperture Interferometry at Concordia
- Author
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Fossat, E., Vakili, F., Aristidi, E., Lopez, B., François-Xavier Schmider, Agabi, A., Daban, J. B., Allouche, F., Belu, A. R., Gori, P. M., Guerri, G., Valat, B., Laboratoire Hippolyte Fizeau (FIZEAU), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, and Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)
- Abstract
Proc. XXVI th IAU General Assembly, Cambridge University press n/a, pp. 705-706 (2006); International audience
- Published
- 2006
27. High dynamic range imaging experiments at LUAN: progress and future prospects
- Author
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Guerri, G., Daban, J.-B., Abe, L., Bendjoya, P., Vakili, F., Sarry, J., Auroux, S., Carbillet, M., Laboratoire Hippolyte Fizeau (FIZEAU), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, and Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)
- Abstract
SF2A - Scientific Highlights 2005, eds. F. Casoli, T. Contini, J.-M. Hameury and L. Pagani, EDP Sciences - Conference Series n/a, pp. 277-278 (2006); International audience
- Published
- 2006
28. Sequential extraction and genetic fingerprinting of a forest soil metagenome
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Ascher, J., Ceccherini, M.T., Pantani, O.L., Agnelli, A., Borgogni, F., Guerri, G., Nannipieri, P., and Pietramellara, G.
- Published
- 2009
- Full Text
- View/download PDF
29. GENETIC SCREENING IN A LARGE COHORT OF ITALIAN PATIENTS AFFECTED BY PRIMARY LYMPHEDEMA USING A NEXT GENERATION SEQUENCING (NGS) APPROACH.
- Author
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Michelini, S., Vettori, A., Maltese, P. E., Cardone, M., Bruson, A., Fiorentino, A., Cappellino, F., Sainato, V., Guerri, G., Marceddu, G., Tezzele, S., and Bertelli, M.
- Subjects
GENETIC testing ,LYMPHEDEMA diagnosis ,NUCLEOTIDE sequencing ,OLIGONUCLEOTIDE synthesis ,GENOTYPES - Abstract
Primary lymphedema is a rare inherited condition characterized by swelling of body tissues caused by accumulation of fluid, especially in the lower limbs. In many patients, primary lymphedema has been associated with variations in a number of genes involved in the development and maintenance of the lymphatic system. In this study, we performed a genetic screening in patients affected by primary lymphedema using a next generation sequencing (NGS) approach. With this technology, based on a custom-made oligonucleotide probe library, we were able to analyze simultaneously in each patient all the coding exons of 10 genes (FLT4, FOXC2, CCBE1, GJC2, MET, HGF, GATA2, SOX18, VEGFC, KIF11) associated with primary lymphedema. In the study population, composed of 45 familial and 71 sporadic cases, we identified the presence of rare variants with a potential pathogenic effect in 33% of subjects. Overall, we found a total of 36 different rare nucleotidic alterations, 30 of which had not been previously described. Among these, we identified 23 mutations that we considered most likely to be disease causing. Patients with an FLT4 or FOXC2 alteration accounted for the largest percentage of the sample, followed by MET, HGF, KIK11, GJC2 and GATA2. No alterations were identified in SOX18, VEGFC, and CCBE1 genes. In conclusion, we showed that NGS technology can be successfully applied to perform molecular screening of lymphedemaassociated genes in large cohort of patients with a reasonable effort in terms of cost, work, and time. [ABSTRACT FROM AUTHOR]
- Published
- 2016
30. A Role for D-aspartate Oxidase in Schizophrenia and in Schizophrenia-related Symptoms Induced by Phencyclidine in Mice.
- Author
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Squillace, M., Errico, F., D'Argenio, V., Sforazzini, F., Iasevoli, F., Guerri, G., Napolitano, F., Angrisano, T., Di Maio, A., Vitucci, D., Bifone, A., Chiariotti, L., Bertolino, A., De Bartolomeis, A., Salvatore, F., Gozzi, A., and Usiello, A.
- Published
- 2015
- Full Text
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31. CORONA: progress report on the Dome C prototype APKC coronagraph.
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Guerri, G., Daban, J. B., Vakili, F., Abe, L., Aristidi, E., Agabi, K., Bendjoya, P., Sarry, J., Schmider, F. X., and Lopez, B.
- Published
- 2006
- Full Text
- View/download PDF
32. TIRAN: testbed for interferometric remapped array nuller.
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Abe, Lyu, Belu, Adrian, Daban, Jean Baptiste, Vakili, Farrokh, Caratti, C., Filloux, C., Rous, G., Rivassou, F., and Guerri, G.
- Published
- 2004
- Full Text
- View/download PDF
33. Reply to the Letter "The development of Brugada syndrome phenotype is multifactorial, combining genetic and environmental factors".
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Maltese, P. E., Aldanova, E., Kriuchkova, N., Averianov, A., Manara, E., Paolacci, S., Bruson, A., Miotto, R., Sartori, M., Guerri, G., Zuntini, M., Marceddu, G., Tezzele, S., Tadtaeva, K., Chernova, A., Aksyutina, N., Nikulina, S., Nodari, S., and Bertelli, M.
- Published
- 2020
34. MAGI Balkans, a laboratory for the diagnosis of rare genetic diseases
- Author
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Manara Elena, Maltese Paolo E., Guerri Giulia, Marceddu Giuseppe, Capodicasa Natale, Abeshi Andi, and Bertelli Matteo
- Subjects
craniosynostosis ,familial adenomatous polyposis ,frontotemporal dementia ,albania ,tirana ,Biotechnology ,TP248.13-248.65 - Abstract
Molecular diagnosis relieves patients of uncertainty, aids informed decisions about health and reproductive choices, and helps them join clinical trials or access available therapy. Genetic testing by next generation sequencing (NGS) is the suggested choice for a wide variety of disorders with heterogeneous phenotypes, alleles and loci. The development of a NGS service at MAGI Balkans, through the support of a partner, increases the availability of forefront genetic testing in Albania with great advantages for patients and their families. Here we report the NGS tests performed in collaboration with MAGI Euregio, Italy, for the diagnosis of rare genetic disease in seven probands and their families. The diseases/manifestations included ichthyosis, familial adenomatous polyposis, diabetes, syndromic craniosynostosis, fronto-temporal dementia, fragile X syndrome and ataxia. We obtained an overall detection rate of 57%. For 4/7 probands we identified a pathogenic or likely pathogenic variant, while for the others, the results did not completely explain the phenotype. All variants were confirmed by Sanger sequencing. Segregation of the variant with the affected phenotype was also evaluated.
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- 2017
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35. Non-syndromic monogenic female infertility
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Guerri, G., Maniscalchi, T., Barati, S., Gerli, S., Di Renzo, G. C., Morte, C. D., Marceddu, G., Casadei, A., Lagana, A. S., Sturla, D., Ghezzi, F., Garzon, S., Unfer, V., Bertelli, M., and Paolacci, S.
- Subjects
Abortion, Habitual ,ovarian dysgenesis ,recurrent pregnancy loss ,female infertility ,High-Throughput Nucleotide Sequencing ,oocyte maturation defects ,Review ,premature ovarian failure ,Female infertility ,Oocyte maturation defects ,Ovarian dysgenesis ,Ovarian hyperstimulation syndrome ,Preimplantation embryonic lethality ,Premature ovarian failure ,Recurrent pregnancy loss ,female infertility, premature ovarian failure, ovarian dysgenesis, oocyte maturation defects, pre- implantation embryonic lethality, recurrent pregnancy loss, ovarian hyperstimulation syndrome ,pre-implantation embryonic lethality ,ovarian hyperstimulation syndrome ,Humans ,Female ,Genetic Predisposition to Disease ,Genetic Testing ,Infertility, Female ,pre- implantation embryonic lethality - Abstract
Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility lacking any obvious cause). In 2010, the World Health Organization calculated that 1.9% of child-seeking women aged 20-44 years were unable to have a first live birth (primary infertility), and 10.5% of child-seeking women with a prior live birth were unable to have an additional live birth (secondary infertility). About 50% of all infertility cases are due to female reproductive defects. Several chromosome aberrations, diagnosed by karyotype analysis, have long been known to be associated with female infertility and monogenic mutations have also recently been found. Female infertility primarily involves oogenesis. The following phenotypes are associated with monogenic female infertility: premature ovarian failure, ovarian dysgenesis, oocyte maturation defects, early embryo arrest, polycystic ovary syndrome and recurrent pregnancy loss. Here we summarize the genetic causes of non-syndromic monogenic female infertility and the genes analyzed by our genetic test. (www.actabiomedica.it)
36. Intelligent spin states.
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Aragone, C., Guerri, G., Salamo, S., and Tani, J. L.
- Published
- 1974
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37. A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
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Elena Manara, Luigia Cinque, Orazio Palumbo, Matteo Bertelli, Lucia Micale, Simona Bianco, Mario Nicodemi, Marco Castori, Angelantonio Notarangelo, Maria Grazia Giuffrida, Laura Bernardini, Andrea M. Chiariello, Giulia Guerri, Andrea Esposito, Cinque, L., Micale, L., Manara, E., Esposito, A., Palumbo, O., Chiariello, A. M., Bianco, S., Guerri, G., Bertelli, M., Giuffrida, M. G., Bernardini, L., Notarangelo, A., Nicodemi, M., and Castori, M.
- Subjects
Genetics ,Chromosome 17 (human) ,Cardiovascular and Metabolic Diseases ,Regulatory sequence ,Breakpoint ,Locus (genetics) ,Chromosomal translocation ,Biology ,Enhancer ,Gene ,Genetics (clinical) ,Chromatin - Abstract
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5' regulatory element of SOX9. To date, six CS families were resolved at the molecular level. Subsequent studies explored the evolutionary and pathological complexities of the SOX9-KCNJ2/Sox9-Kcnj2 locus, and suggested a key role for the formation of novel topologically associating domain (TAD) by inter-TAD duplications in causing CS. Here, we report a unique case of CS associated with a de novo 1;17 translocation affecting the KCNJ2 locus. On chromosome 17, the breakpoint mapped between KCNJ16 and KCNJ2, and combined with a ~ 5 kb deletion in the 5' of KCNJ2. Based on available capture Hi-C data, the breakpoint on chromosome 17 separated KCNJ2 from a putative enhancer. Gene expression analysis demonstrated downregulation of KCNJ2 in both patient's blood cells and cultured skin fibroblasts. Our findings suggest that a complex rearrangement falling in the 5' of KCNJ2 may mimic the developmental consequences of in tandem duplications affecting the SOX9-KCNJ2/Sox9-Kcnj2 locus. This finding adds weight to the notion of an intricate role of gene regulatory regions and, presumably, the related three-dimensional chromatin structure in normal and abnormal human morphology.
- Published
- 2022
38. The FKBP51s Splice Isoform Predicts Unfavorable Prognosis in Patients with Glioblastoma.
- Author
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Giordano C, Marrone L, Romano S, Della Pepa GM, Donzelli CM, Tufano M, Capasso M, Lasorsa VA, Quintavalle C, Guerri G, Martucci M, Auricchio A, Gessi M, Sala E, Olivi A, Romano MF, and Gaudino S
- Subjects
- Humans, Prognosis, Female, Male, Middle Aged, Tumor-Associated Macrophages immunology, Tumor-Associated Macrophages metabolism, Aged, Biomarkers, Tumor metabolism, Biomarkers, Tumor genetics, Magnetic Resonance Imaging, Adult, Glioblastoma genetics, Glioblastoma pathology, Glioblastoma immunology, Glioblastoma metabolism, Glioblastoma mortality, Glioblastoma diagnostic imaging, Tacrolimus Binding Proteins genetics, Tacrolimus Binding Proteins metabolism, Tumor Microenvironment immunology, Protein Isoforms genetics, Protein Isoforms metabolism, Brain Neoplasms pathology, Brain Neoplasms genetics, Brain Neoplasms metabolism, Brain Neoplasms immunology, Brain Neoplasms mortality
- Abstract
The primary treatment for glioblastoma (GBM) is removing the tumor mass as defined by MRI. However, MRI has limited diagnostic and predictive value. Tumor-associated macrophages (TAM) are abundant in GBM tumor microenvironment (TME) and are found in peripheral blood (PB). FKBP51 expression, with its canonical and spliced isoforms, is constitutive in immune cells and aberrant in GBM. Spliced FKBP51s supports M2 polarization. To find an immunologic signature that combined with MRI could advance in diagnosis, we immunophenotyped the macrophages of TME and PB from 37 patients with GBM using FKBP51s and classical M1-M2 markers. We also determined the tumor levels of FKBP51s, PD-L1, and HLA-DR. Tumors expressing FKBP51s showed an increase in various M2 phenotypes and regulatory T cells in PB, indicating immunosuppression. Tumors expressing FKBP51s also activated STAT3 and were associated with reduced survival. Correlative studies with MRI and tumor/macrophages cocultures allowed to interpret TAMs. Tumor volume correlated with M1 infiltration of TME. Cocultures with spheroids produced M1 polarization, suggesting that M1 macrophages may infiltrate alongside cancer stem cells. Cocultures of adherent cells developed the M2 phenotype CD163/FKBP51s expressing pSTAT6, a transcription factor enabling migration and invasion. In patients with recurrences, increased counts of CD163/FKBP51s monocyte/macrophages in PB correlated with callosal infiltration and were accompanied by a concomitant decrease in TME-infiltrating M1 macrophages. PB PD-L1/FKBP51s connoted necrotic tumors. In conclusion, FKBP51s identifies a GBM subtype that significantly impairs the immune system. Moreover, FKBP51s marks PB macrophages associated with MRI features of glioma malignancy that can aid in patient monitoring., Significance: Our research suggests that by combining imaging with analysis of monocyte/macrophage subsets in patients with GBM, we can enhance our understanding of the disease and assist in its treatment. We discovered a similarity in the macrophage composition between the TME and PB, and through association with imaging, we could interpret macrophages. In addition, we identified a predictive biomarker that drew more attention to immune suppression of patients with GBM., (© 2024 The Authors; Published by the American Association for Cancer Research.)
- Published
- 2024
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- View/download PDF
39. Comparison of Xylazine and Lidocaine Infusion versus Medetomidine Continuous Rate Infusion during General Anesthesia with Isoflurane in Horses Undergoing Emergency Laparotomy.
- Author
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Straticò P, Guerri G, Bandera L, Celani G, Di Nunzio L, Petrizzi L, and Varasano V
- Abstract
(1) The main goals of general anesthesia include pain management and a safe anesthetic protocol for smooth recovery. In this retrospective study, we compared two anesthetic protocols for general anesthesia with isoflurane during emergency laparotomy: sedation with xylazine and the intraoperative infusion of lidocaine (X group) versus medetomidine as a preoperative sedation and intraoperative infusion (M group). (2) The medical records of horses who underwent emergency laparotomies between 2016 and 2023 were reviewed. According to the anesthetic protocol, patients were allocated to the X or M groups. Data about the horse, signalment, history, and anesthetic variables were analyzed. (3) Group X had a significantly higher heart rate (HR), lower respiratory rate (RR) and mean and diastolic arterial pressure (MAP/DAP). A progressive increase in HR and RR was observed in both groups. Group X underwent a decrease in RR and an increase in DAP. In Group M, a decrease in MAP and DAP was observed. Group M exhibited a longer recovery time with similar recovery scores. Both protocols provided safe anesthesia for emergency laparotomy, with minor cardiovascular and respiratory depression. Minor respiratory depression was detected when xylazine was used, while recovery was longer with medetomidine.
- Published
- 2024
- Full Text
- View/download PDF
40. Omics sciences and precision medicine in glioblastoma.
- Author
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Micheletti C, Bonetti G, Madeo G, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Manganotti P, Caruso P, Bernini A, Fulcheri E, Stuppia L, Gatta V, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Humans, Precision Medicine, Proteomics methods, Biomarkers, Glioblastoma therapy, Glioblastoma drug therapy, Brain Neoplasms genetics, Brain Neoplasms therapy
- Abstract
Abstract: Glioblastoma is a highly aggressive and malignant type of brain cancer with a poor prognosis, despite current treatment options of surgery, radiation therapy, and chemotherapy. These treatments have limitations due to the aggressive nature of the cancer and the difficulty in completely removing the tumor without damaging healthy brain tissue. Personalized medicine, using genomic profiling to tailor treatment to the patient's specific tumor, and immunotherapy have shown promise in clinical trials. The blood-brain barrier also poses a challenge in delivering treatments to the brain, and researchers are exploring various approaches to bypass it. More effective, personalized treatment approaches are needed to improve outcomes for glioblastoma patients. This tumor is studied using genomics, transcriptomics, and proteomics techniques, to better understand its underlying molecular mechanisms. Recent studies have used these techniques to identify potential therapeutic targets, molecular subtypes, and heterogeneity of tumor cells. Advancements in omics sciences have improved our understanding of glioblastoma biology, and precision medicine approaches have impli-cations for more accurate diagnoses, improved treatment outcomes, and personalized preventive care. Precision medicine can match patients with drugs that target specific genetic mutations, improve clinical trials, and identify individuals at higher risk for certain diseases. Precision medicine, which involves customizing medical treatment based on an individual's genetic makeup, lifestyle, and environmental factors, has shown promise in improving treatment outcomes for glioblastoma patients. Identifying biomarkers is essential for patient stratification and treatment selection in precision medicine approaches for glioblastoma, and several biomarkers have shown promise in predicting patient response to treatment. Targeted therapies are a key component of precision medicine approaches in glioblastoma, but there is still a need to improve their effectiveness. Technical challenges, such as sample quality and availability, and challenges in analyzing and interpreting large amounts of data remain significant obstacles in omics sciences and precision medicine for glioblastoma. The clinical implementation of precision medicine in glioblastoma treatment faces challenges related to patient selection, drug development, and clinical trial design, as well as ethical and legal considerations related to patient privacy, informed consent, and access to expensive treatments.
- Published
- 2023
- Full Text
- View/download PDF
41. Increase of Epicardial Adipose Tissue (EAT) With Fat Infiltration of Right Ventricular Myocardium: Is it Always a High-Risk Stigmata or a Worrisome Feature?
- Author
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Pierro A, Guerri G, Santamaria M, De Innocentiis C, Totaro A, Cucci E, Iezzi R, and Cilla S
- Subjects
- Aged, 80 and over, Female, Humans, Contrast Media, Gadolinium, Myocardium, Arrhythmogenic Right Ventricular Dysplasia diagnosis, Arrhythmogenic Right Ventricular Dysplasia pathology, Atrial Fibrillation pathology
- Abstract
Incidental epicardial adipose tissue (EAT) and subepicardial fat infiltration on CT scans are not uncommon and the differential diagnosis can be a challenge. Considering the vastness of the possible disorders, it is important to differentiate physiologic age-related condition from pathologic disease. We present a case of an asymptomatic 81-year-old woman in which according to ECG and CMR findings we considered as possible differential diagnoses arrhythmogenic cardiomyopathy (ACM) dominant-right variant, lipomatosis and physiological growth of epicardial fat. We focus on patient characteristics, location of the fat replacement, heart morphovolumetry, wall motion of the ventricles and absence of late gadolinium enhancement to diagnose pericardial fat hypertrophy and physiological fatty infiltration. The role of EAT is unclear and it could play a part in the development of atherosclerosis and atrial fibrillation. Therefore, the clinicians should not underestimate this condition even if it would be an incidental finding in asymptomatic patients., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)
- Published
- 2023
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- View/download PDF
42. The Role of Olive Tree Polyphenols in the Prevention of COVID-19: A Scoping Review, part 1.
- Author
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Bonetti G, Donato K, Medori MC, Cecchin S, Marceddu G, Gadler M, Guerri G, Cristofoli F, Connelly ST, Gaffuri F, Tartaglia GM, Nodari S, Arabia G, Fioretti F, Gregorace E, Perrone MA, and Bertelli M
- Subjects
- Humans, SARS-CoV-2, Polyphenols pharmacology, Polyphenols therapeutic use, Phenols, Olea, COVID-19 prevention & control
- Abstract
Abstract: The global COVID-19 outbreak, started in December 2019, resulted in severe financial losses and extraordinary health crises. Finding a potent and secure medication candidate to treat SARS-CoV-2 infection and its symptoms is still an urgent global need. After reviewing previous studies, olive leaves, being rich in polyphenolic compounds (a large class of bioactive substances naturally found in plants), were proposed as a viable co-therapy supplement to treat and improve clinical symptoms in COVID-19 patients. It has long been known that olive tree polyphenols-such as oleuropein, hydroxytyrosol, verbascoside, as well as triterpenoids like maslinic, ursolic, and oleanolic acids-have anti-inflammatory and multitarget antiviral effects on several virus families, and they could be one of the reasons of the beneficial effects of the Mediterranean diet against COVID-19. Thus, olive tree poly-phenols were tested in silico and in vitro for preventing SARS-CoV-2 infection, claiming that they have beneficial effects. Nevertheless, there is still a small number of research studies on this topic. The aim of this scoping review is to provide more information and offer an opinion on the feasibility of using olive tree polyphenols as a springboard for the creation of innovative natural remedies against this viral illness, ultimately planning future relevant studies.
- Published
- 2023
- Full Text
- View/download PDF
43. Omics sciences and precision medicine in lung cancer.
- Author
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Micheletti C, Dhuli K, Donato K, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Stuppia L, Stuppia L, Gatta V, Cristoni S, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Humans, Genomics, Proteomics, Metabolomics, Precision Medicine, Lung Neoplasms diagnosis, Lung Neoplasms genetics, Lung Neoplasms therapy
- Abstract
Abstract: Lung cancer is a complex disease, with a wide range of genetic alterations and clinical presentations. Understanding the natural and clinical history of the disease is crucial for developing effective diagnostic and treatment strategies. Omics approaches, such as genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools for understanding the molecular mechanisms underlying lung cancer and for identifying novel biomarkers and therapeutic targets. These approaches enable researchers to examine the entire genome, transcriptome, proteome, or metabolome of a cell or tissue, providing a comprehensive view of the biological processes involved in lung cancer development and progression. Targeted therapies that address specific genetic mutations and pathways hold promise for improving the diagnosis and treatment of this disease.
- Published
- 2023
- Full Text
- View/download PDF
44. Omics sciences and precision medicine in sarcoma.
- Author
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Bonetti G, Donato K, Dhuli K, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Cavalca D, Stuppia L, Stuppia L, Gatta V, Cristoni S, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Humans, Precision Medicine, Genomics, Biomarkers, Proteomics, Sarcoma drug therapy, Sarcoma genetics
- Abstract
Background: Sarcomas are a relatively rare but diverse group of cancers that typically develop in the mesenchymal cells of bones and soft tissues. Occurring in more than 70 subtypes, sarcomas have broad histological presentations, posing significant challenges of prognosis and treatment. Modern multi-omics studies, which include genomics, proteomics, metabolomics, and micro-biomics, are vital to understand the underlying mechanisms of sarcoma development and progression, identify molecular biomarkers for early detection, develop personalized treatment plans, and discover drug resistance mechanisms in sarcomas to upsurge the survival rate., Aim: This study aims to highlight the genetic risk factors responsible for sarcoma-genesis, and to present a comprehensive review of multi-omics studies about sarcoma., Methods: Extensive literature research was undertaken using reliable and authentic medical journals, e-books, and online cancer research databases. Mendelian inheritance in man database (OMIM) was explored to study particular genes and their loci that are responsible to cause various sarcomas., Result: This in-depth research led to the finding out that omics studies provide a more comprehensive understanding of underlying molecular mechanisms of sarcomas. Through genomics, we can reveal genetic alterations that predispose to sarcoma, like mutation in TP53, NF1, and so on. Pharmacogenomics enable us to find molecular targets for specific drugs. Whereas, proteomic and metabolomic studies provide insights into the biological pathways involved in sarcoma development and progression., Conclusion: Future advancements in omics sciences for sarcoma are on the cutting-edge of defining precision treatment plans and improved resilience of sarcoma patients.
- Published
- 2023
- Full Text
- View/download PDF
45. Omics sciences and precision medicine in colon cancer.
- Author
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Madeo G, Bonetti G, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Iaconelli A, Aquilanti B, Matera G, Stuppia L, Gatta V, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Humans, Genomics, Prognosis, Proteomics, Colonic Neoplasms genetics, Colonic Neoplasms therapy, Precision Medicine
- Abstract
Abstract: Colon cancer presents a complex pathophysiological landscape, which poses a significant challenge to the precise prediction of patient prognosis and treatment response. However, the emergence of omics sciences such as genomics, transcriptomics, proteomics, and metabolomics has provided powerful tools to identify molecular alterations and pathways involved in colon cancer development and progression. To address the lack of literature exploring the intersection of omics sciences, precision medicine, and colon cancer, we conducted a comprehensive search in ScienceDirect and PubMed databases. We included systematic reviews, reviews, case studies, clinical studies, and randomized controlled trials that were published between 2015-2023. To refine our search, we excluded abstracts and non-English studies. This review provides a comprehensive summary of the current understanding of the latest developments in precision medicine and omics sciences in the context of colon cancer. Studies have identified molecular subtypes of colon cancer based on genomic and transcrip-tomic profiles, which have implications for prognosis and treatment selection. Furthermore, precision medicine (which involves tailoring treatments, based on the unique molecular characteristics of each patient's tumor) has shown promise in improving outcomes for colon cancer patients. Omics sciences and precision medicine hold great promise for identifying new therapeutic targets and developing more effective treatments for colon cancer. Although not strictly designed as a systematic review, this review provides a readily accessible and up-to-date summary of the latest developments in the field, highlighting the challenges and opportunities for future research.
- Published
- 2023
- Full Text
- View/download PDF
46. Omics sciences and precision medicine in prostate cancer.
- Author
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Medori MC, Micheletti C, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Calogero AE, Cannarella R, Stuppia L, Gatta V, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Humans, Male, Precision Medicine, Genomics methods, Biomarkers, Proteomics methods, Prostatic Neoplasms diagnosis, Prostatic Neoplasms genetics, Prostatic Neoplasms therapy
- Abstract
Abstract: In the last decade, Prostate Cancer (PCa) has emerged as the second most prevalent and serious medical condition, and is considered one of the leading factors contributing to global mortality rates. Several factors (genetic as well as environmental) contribute to its development and seriousness. Since the disease is usually asymptomatic at early stages, it is typically misdiagnosed or over-diagnosed by the diagnostic procedures currently in use, leading to improper treatment. Effective biomarkers and diagnostic techniques are desperately needed in clinical settings for better management of PCa patients. Studies integrating omics sciences have shown that the accuracy and dependability of diagnostic and prognostic evaluations have increased because of the use of omics data; also, the treatment plans using omics can be facilitated by personalized medicine. The present review emphasizes innovative multi-omics methodologies, encompassing proteomics, genomics, microbiomics, metabolomics, and transcriptomics, with the aim of comprehending the molecular alterations that trigger and contribute to PCa. The review shows how early genomic and transcriptomic research has made it possible to identify PCa-related genes that are controlled by tumor-relevant signaling pathways. Proteomic and metabolomic analyses have recently been integrated, advancing our understanding of the complex mechanisms at play, the multiple levels of regulation, and how they interact. By applying the omics approach, new vulnerabilities may be discovered, and customized treatments with improved efficacy will soon be accessible.
- Published
- 2023
- Full Text
- View/download PDF
47. Omics sciences and precision medicine in breast and ovarian cancer.
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Bonetti G, Madeo G, Michelini S, Ricci M, Cestari M, Michelini S, Gadler M, Benedetti S, Guerri G, Cristofoli F, Generali D, Donofrio CA, Cominetti M, Fioravanti A, Riccio L, Bernini A, Fulcheri E, Stuppia L, Gatta V, Cecchin S, Marceddu G, and Bertelli M
- Subjects
- Female, Humans, Precision Medicine, Genomics, Prognosis, Breast Neoplasms genetics, Breast Neoplasms therapy, Ovarian Neoplasms genetics, Ovarian Neoplasms therapy
- Abstract
Background: Human breast carcinoma is a complex disease, affecting 1 in 8 women worldwide. The seriousness of the disease increases when the definite cause of the disease remains obscure, thus making prognosis challenging. Researchers are emphasizing on adapting more advanced and targeted therapeutic approaches to address the multifaceted impacts of the disease. Hence, modern multi-omics systems have gained popularity among clinicians, as they offer insights into the genomic, pharmacogenomic, metabolomic, and microbiomic factors, thus allowing researchers to develop targeted and personalized approaches for breast cancer prevention and early detection, and eventually improving patient outcomes., Aim: The primary focus of this study is to elucidate, through the integration of multi-omics research findings, the inherent molecular origins of diverse subtypes of breast cancer and to evaluate the effectiveness of these findings in reducing breast cancer-related mortalities., Methods: Thorough investigation was conducted by reviewing reputable and authoritative medical journals, e-books, and online databases dedicated to cancer research. The Mendelian inheritance in man database (OMIM) was used to scrutinize specific genes and their respective loci associated with the development of different types of breast cancer., Results: Our present research revealed the holistic picture of sundry molecular, genomic, pharmacogenomic, metabolomic, and microbiomic features of breast cancer. Such findings, like genetic alterations in highly penetrant genes, plus metabolomic and microbiomic signatures of breast cancer, unveil valuable insights and show great potential for multi-omics research in breast oncology., Conclusion: Further research in omics sciences pertaining to breast cancer are at the forefront of shaping precise treatment and bolstering patient survival.
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- 2023
- Full Text
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48. Looking for appropriateness in follow-up CT of oncologic patients: Results from a cross-sectional study.
- Author
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Lencioni R, Fanni SC, Morganti R, Febi M, Ambrosini I, De Gori C, D'Amore CA, Bruni L, D'Agostino G, Milazzo A, Guerri G, Coppola M, Mazzeo ML, Cioni D, and Neri E
- Subjects
- Humans, Cross-Sectional Studies, Follow-Up Studies, Tomography, X-Ray Computed, Medical Oncology, Physical Examination
- Abstract
Purpose: The objective of this study was to assess the inappropriateness rate of oncological follow-up CT examinations., Methods: Out of 7.000 oncology patients referred for follow-up CT examinations between March and October 2022, a random sample of 10 % was included. Radiology residents assessed the appropriateness using the Italian Society of Medical Oncology (AIOM) guidelines, supervised by senior radiologists. Association between inappropriateness and clinical variables was investigated and variables influencing inappropriateness were analyzed through a binary logistic regression., Results: Three-hundred-eighty-eight examinations (56.1 %) were consistent with AIOM guidelines. An additional 100 (14.5 %) examinations did not follow the recommended schedule but were nevertheless considered appropriate because of suspected recurrence/progression (10.7 %) or adverse event requiring imaging assessment (3.8 %). Two-hundred-four (29.4 %) examinations were rated as inappropriate. Inappropriateness causes were as follows: CT not included in the relevant guideline (n = 47); CT extended to additional anatomical regions (n = 59); CT requested at a shorter time-interval (n = 98). No statistically significant difference was found in age, sex, scan region, and primary cancer between appropriate and inappropriate examinations. The only variable significantly associated with inappropriateness was being referred by a specific hospital unit named "unit 2" in the study (p = 0.009), which was demonstrated to be the only appropriateness independent predictor (OR 1.952)., Conclusion: This study shows that majority of oncological patients referred for follow-up CT follows standard guidelines. However, a non-negligible proportion was rated as inappropriate, mainly due to the shorter time-interval. No clinical variable was associated with inappropriateness, except for referral by a specific hospital unit., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
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- 2023
- Full Text
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49. Non-invasive estimation of in vivo optical properties and hemodynamic parameters of domestic animals: a preliminary study on horses, dogs, and sheep.
- Author
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Frabasile L, Amendola C, Buttafava M, Chincarini M, Contini D, Cozzi B, De Zani D, Guerri G, Lacerenza M, Minero M, Petrizzi L, Qiu L, Rabbogliatti V, Rossi E, Spinelli L, Straticò P, Vignola G, Zani DD, Dalla Costa E, and Torricelli A
- Abstract
Biosensors applied in veterinary medicine serve as a noninvasive method to determine the health status of animals and, indirectly, their level of welfare. Near infrared spectroscopy (NIRS) has been suggested as a technology with this application. This study presents preliminary in vivo time domain NIRS measurements of optical properties (absorption coefficient, reduced scattering coefficient, and differential pathlength factor) and hemodynamic parameters (concentration of oxygenated hemoglobin, deoxygenated hemoglobin, total hemoglobin, and tissue oxygen saturation) of tissue domestic animals, specifically of skeletal muscle (4 dogs and 6 horses) and head (4 dogs and 19 sheep). The results suggest that TD NIRS in vivo measurements on domestic animals are feasible, and reveal significant variations in the optical and hemodynamic properties among tissue types and species. In horses the different optical and hemodynamic properties of the measured muscles can be attributed to the presence of a thicker adipose layer over the muscle in the Longissimus Dorsi and in the Gluteus Superficialis as compared to the Triceps Brachii. In dogs the absorption coefficient is higher in the head (temporalis musculature) than in skeletal muscles. The smaller absorption coefficient for the head of the sheep as compared to the head of dogs may suggest that in sheep we are indeed reaching the brain cortex while in dog light penetration can be hindered by the strongly absorbing muscle covering the cranium., Competing Interests: AT, DC, MB, and ML are cofounders of PIONIRS Srl. The remaining 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 Frabasile, Amendola, Buttafava, Chincarini, Contini, Cozzi, De Zani, Guerri, Lacerenza, Minero, Petrizzi, Qiu, Rabbogliatti, Rossi, Spinelli, Straticò, Vignola, Zani, Dalla Costa and Torricelli.)
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- 2023
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50. Small Bowel Imaging from Stepchild of Roentgenology to MR Enterography, Part II: The Reliable Disclosure of Crohn's Disease and Non-Inflammatory Small Bowel Disorder Plot through MRI Findings.
- Author
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Pierro A, Minordi LM, Larosa L, Cipri C, Guerri G, Quinto F, Rotondi F, Marcellino A, Basilico R, Iezzi R, and Cilla S
- Abstract
MRE has become a standard imaging test for evaluating patients with small bowel pathology, but a rigorous methodology for describing and interpreting the pathological findings is mandatory. Strictures, abscess, inflammatory activity, sinus tract, wall edema, fistula, mucosal lesions, strictures, and mesentery fat hypertrophy are all indicators of small bowel damage in inflammatory and non-inflammatory small bowel disease, and they are all commonly and accurately explained by MRE. MRE is a non-invasive modality that accurately assesses the intra-luminal, parietal, and extra-luminal small bowel. Differential MRE appearance allows us to distinguish between Crohn's disease and non-inflammatory small bowel disorder. The purpose of this paper is to present the MRE pathological findings of small bowel disorder.
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- 2023
- Full Text
- View/download PDF
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