289 results on '"Mastrangelo S."'
Search Results
2. Clinical pharmacokinetics and toxicity of irinotecan
- Author
-
Attina, G, Mastrangelo, S, and Ruggiero, A
- Published
- 2022
- Full Text
- View/download PDF
3. High-density SNP markers elucidate the genetic divergence and population structure of Noticiana sheep breed in the Mediterranean context
- Author
-
Chessari G., Criscione A., Tolone M., Bordonaro S., Rizzuto I., Riggio S., Macaluso V., Moscarelli A., Portolano B., Sardina M. T., Mastrangelo S., Chessari G., Criscione A., Tolone M., Bordonaro S., Rizzuto I., Riggio S., Macaluso V., Moscarelli A., Portolano B., Sardina M.T., and Mastrangelo S.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,General Veterinary ,single nucleotide polymorphism ,candidate gene ,inbreeding ,genetic differentiation analyse ,local sheep breed - Abstract
Among livestock species, sheep have played an early major role in the Mediterranean area. Italy has a long history of sheep breeding and, despite a dramatic contraction in numbers, still raise several local populations that may represent a unique source of genetic diversity. The Noticiana is a breed of the south-eastern part of Sicily appreciated both for its dairy products and for its resistance to harsh environment. In this study, the high-density Illumina Ovine SNP600K BeadChip array was used for the first genome-wide characterization of 48 individuals of Noticiana sheep to investigate its diversity, the genome structure and the relationship within the context of worldwide and Italian breeds. Moreover, the runs of homozygosity (ROH) pattern and the pairwise FST-outliers were examined. Noticiana reported moderate levels of genetic diversity. The high percentage of short and medium length ROH segments (93% under 4 Mb) is indicative of a within breed relatedness dating back to ancient times, despite the absence of management for the mating plans and the reduced population size. In the worldwide context, the Southern Italian, Spanish and Albanian breeds overlapped in a macro cluster which also included the Noticiana sheep. The results highlighted ancestral genetic components of Noticiana shared with Comisana breed, and showed the clear separation from the other Italian sheep. This is likely the consequence of the combined effects of genetic drift, small population size and reproductive isolation. ROH islands and FST-outliers approaches in Noticiana identified genes and QTLs involved in milk and meat production, as well as related to the local adaptation, and therefore are consistent with the phenotypic traits of the studied breed. Although a wider sampling could be useful to deepen the genomic survey on Noticiana, these results represent a crucial starting point for the characterization of an important local genetic resource, with a view of supporting the local economy and preserving the biodiversity of the sheep species.
- Published
- 2023
4. Exploring genome-wide differentiation and signatures of selection in Italian and North American Holstein populations
- Author
-
Persichilli C., Senczuk G., Mastrangelo S., Marusi M., van Kaam J. -T., Finocchiaro R., Di Civita M., Cassandro M., Pilla F., Persichilli C., Senczuk G., Mastrangelo S., Marusi M., van Kaam J.-T., Finocchiaro R., Di Civita M., Cassandro M., and Pilla F.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,Holstein ,cattle ,genetic structure ,selection signature ,candidate gene - Abstract
Among Italian dairy cattle, the Holstein is the most reared breed for the production of Parmigiano Reggiano protected designation of origin cheese, which represents one of the most renowned products in the entire Italian dairy industry. In this work, we used a medium-density genome-wide data set consisting of 79,464 imputed SNPs to study the genetic structure of Italian Holstein breed, including the population reared in the area of Parmigiano Reggiano cheese production, and assessing its distinctiveness from the North American population. Multidimensional scaling and ADMIXTURE approaches were used to explore the genetic structure among populations. We also investigated putative genomic regions under selection among these 3 populations by combining 4 different statistical methods based either on allele frequencies (single marker and window-based) or extended haplotype homozygosity (EHH; standardized log-ratio of integrated EHH and cross-population EHH). The genetic structure results allowed us to clearly distinguish the 3 Holstein populations; however, the most remarkable difference was observed between Italian and North American stock. Selection signature analyses identified several significant SNPs falling within or closer to genes with known roles in several traits such as milk quality, resistance to disease, and fertility. In particular, a total of 22 genes related to milk production have been identified using the 2 allele frequency approaches. Among these, a convergent signal has been found in the VPS8 gene which resulted to be involved in milk traits, whereas other genes (CYP7B1, KSR2, C4A, LIPE, DCDC1, GPR20, and ST3GAL1) resulted to be associated with quantitative trait loci related to milk yield and composition in terms of fat and protein percentage. In contrast, a total of 7 genomic regions were identified combining the results of standardized log-ratio of integrated EHH and cross-population EHH. In these regions candidate genes for milk traits were also identified. Moreover, this was also confirmed by the enrichment analyses in which we found that the majority of the significantly enriched quantitative trait loci were linked to milk traits, whereas the gene ontology and pathway enrichment analysis pointed to molecular functions and biological processes involved in AA transmembrane transport and methane metabolism pathway. This study provides information on the genetic structure of the examined populations, showing that they are distinguishable from each other. Furthermore, the selection signature analyses can be considered as a starting point for future studies in the identification of causal mutations and consequent implementation of more practical application.
- Published
- 2023
5. Transplacental Passage and Fetal Effects of Antineoplastic Treatment during Pregnancy
- Author
-
Triarico, S., Rivetti, Serena, Capozza, M. A., Romano, A., Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero, Antonio, Rivetti S., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S., Rivetti, Serena, Capozza, M. A., Romano, A., Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero, Antonio, Rivetti S., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
The incidence of PAC is relatively infrequent among pregnant women. However, it has gradually increased in recent years, becoming a challenging area for clinicians that should take into account in the same way maternal benefits and fetal potential risks correlated to the antineoplastic treatment. None of the antineoplastic drugs is completely risk-free during the pregnancy, the timing of exposure and transplacental transfer properties influence the toxicity of the fetus. Despite the lack of guidelines about the management of PAC, several studies have described the use and the potential fetal and neonatal adverse events of antineoplastic drugs during pregnancy. We provide a review of the available literature about the transplacental passage and fetal effects of chemotherapy and targeted agents, to guide the clinicians in the most appropriate choices for the management of PAC.
- Published
- 2022
6. BRAF and MEK Targeted Therapies in Pediatric Central Nervous System Tumors
- Author
-
Talloa, Dario, Triarico, S., Agresti, Pierpaolo, Mastrangelo, Stefano, Attina, G., Romano, A., Maurizi, Palma, Ruggiero, Antonio, Talloa D., Agresti P., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Talloa, Dario, Triarico, S., Agresti, Pierpaolo, Mastrangelo, Stefano, Attina, G., Romano, A., Maurizi, Palma, Ruggiero, Antonio, Talloa D., Agresti P., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
BRAF is a component of the MAPK and PI3K/AKT/mTOR pathways that play a crucial role in cellular proliferation, differentiation, migration, and angiogenesis. Pediatric central nervous system tumors very often show mutations of the MAPK pathway, as demonstrated by next-generation sequencing (NGS), which now has an increasing role in cancer diagnostics. The MAPK mutated pathway in pediatric CNS tumors is the target of numerous drugs, approved or under investigation in ongoing clinical trials. In this review, we describe the main aspects of MAPK and PI3K/AKT/mTOR signaling pathways, with a focus on the alterations commonly involved in tumorigenesis. Furthermore, we reported the main available data about current BRAF and MEK targeted therapies used in pediatric low-grade gliomas (pLLGs), pediatric high-grade gliomas (pHGGs), and other CNS tumors that often present BRAF or MEK mutations. Further molecular stratification and clinical trial design are required for the treatment of pediatric CNS tumors with BRAF and MEK inhibitors.
- Published
- 2022
7. Induction Regimen in High-Risk Neuroblastoma: A Pilot Study of Highly Effective Continuous Exposure of Tumor Cells to Radio-Chemotherapy Sequence for 1 Month. The Critical Role of Iodine-131-Metaiodobenzylguanidine
- Author
-
Mastrangelo, Stefano, Attina, G., Zagaria, Luca, Romano, A., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Zagaria L., Ruggiero A. (ORCID:0000-0002-6052-3511), Mastrangelo, Stefano, Attina, G., Zagaria, Luca, Romano, A., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Zagaria L., and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
The prognosis of high-risk neuroblastoma (NB) continues to be poor. The early development of resistance often leads to disease recurrence. In the present study, an innovative induction regimen, including an intensive initial radio-chemotherapy sequence based on the use of iodine-131-metaiodobenzylguanidine (131-I-MIBG), was investigated. The duration of the regimen lasted only one month. Fifteen newly diagnosed patients aged >18 months with high-risk NB were treated with cisplatin, etoposide, cyclophosphamide, and vincristine, followed on day 10 by 131-I-MIBG (dose: 12–18.3 mCi/kg). Cisplatin and vincristine were administered on day 20 and 21 followed by the re-administration of vincristine, cyclophosphamide, and doxorubicin on day 29 and 30. Non-hematologic toxicity was not observed. Moderate hematologic toxicity was present probably attributable to chemotherapy. The evaluation of response was performed approximately 50 days after the initiation of treatment, yielding four complete responses, eight very good partial responses, one partial response, and two non-responses. Importantly, a complete metastatic response was achieved in 87% of patients. The present pilot study, which includes 131-I-MIBG, allows for a highly effective continuous exposure of tumor cells to both chemotherapy and radiotherapy. Furthermore, early high-dose chemotherapy followed by stem cell rescue may achieve high levels of tumor cell clearance and improve the prognosis of high-risk NB.
- Published
- 2022
8. Growth hormone replacement therapy in pediatric brain tumor survivors
- Author
-
Sodero, Giorgio, Agresti, Pierpaolo, Triarico, S., Romano, A., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Cipolla, Clelia, Ruggiero, Antonio, Sodero G., Agresti P., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Cipolla C., Ruggiero A. (ORCID:0000-0002-6052-3511), Sodero, Giorgio, Agresti, Pierpaolo, Triarico, S., Romano, A., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Cipolla, Clelia, Ruggiero, Antonio, Sodero G., Agresti P., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Cipolla C., and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Brain tumors are the most frequent type of solid neoplasms in children with a recognized 5-year survival rate between 57% and 65%. The survival rate progressively increased in the last few years, due to the improvements in their treatment based on chemotherapy, radiotherapy, and surgery. At the same time, at long term follow-up, clinicians should carefully evaluate comorbidities and long-term sequelae secondary to the disease and its treatment. Growth hormone deficiency (GHD) is an endocrinopathy commonly found among pediatric cancer survivors, with a negative effect on the child’s final height and entire metabolism. GH replacement therapy (GHRT), with a synthetic hormone analog, may improve the growth rate and finally adult height, ameliorating the quality of life after cancer treatment. However, in clinical practice, GHRT is adopted with caution for fear of cancer recurrence or the onset of second malignancies. In our review, we perform a focus on the GH structure and function, comparing benefits and risks of GHRT, derived from the analysis of the data currently available in the literature.
- Published
- 2022
9. Biomarkers Predictive of Metabolic Syndrome and Cardiovascular Disease in Childhood Cancer Survivors
- Author
-
Romano, A., Del Vescovo, Ester, Rivetti, Serena, Triarico, S., Attina, G., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Del Vescovo E., Rivetti S., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Romano, A., Del Vescovo, Ester, Rivetti, Serena, Triarico, S., Attina, G., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Del Vescovo E., Rivetti S., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
The improvement in childhood cancer treatments resulted in a marked improvement in the survival of pediatric cancer patients. However, as survival increased, it was also possible to observe the long-term side effects of cancer therapies. Among these, metabolic syndrome is one of the most frequent long-term side effects, and causes high mortality and morbidity. Consequently, it is necessary to identify strategies that allow for early diagnosis. In this review, the pathogenetic mechanisms of metabolic syndrome and the potential new biomarkers that can facilitate its diagnosis in survivors of pediatric tumors are analyzed.
- Published
- 2022
10. Hematological disorders in children with Down syndrome
- Author
-
Triarico, S., Trombatore, G., Capozza, M. A., Romano, A., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S., Trombatore, G., Capozza, M. A., Romano, A., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Introduction: Hematological abnormalities are common in children with down syndrome (DS), mainly during childhood. Areas covered: DS newborns can develop hematological benign conditions that resolve spontaneously within 1 –2 months. However, about 10% of them can present transient abnormal myelopoiesis (TAM), characterized by the presence of circulating blasts. About 80% of DS neonates with TAM undergo spontaneous resolution of both clinical and laboratory abnormalities within 3–6 months after birth. However, some newborns with TAM may develop acute myeloid leukemia associated with DS (ML-DS), usually after an interval without signs of leukemia. GATA1 mutations are stable molecular markers that may monitor the presence of minimal residual disease (MRD) after TAM resolution. Moreover, DS children have a 10–20-fold increased risk of developing acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The predisposition to develop leukemia occurs both in children with complete trisomy 21 and in those with mosaic trisomy, suggesting an important role of chromosome 21 in leukemogenesis. Expert opinion: In contrast to the excellent prognosis of ML-DS obtained likewise with low doses of chemotherapy, DS-ALL patients show worse outcomes than non-DS children, therefore advances and risk-stratified treatment adjustments are mandatory for this particular set of patients.
- Published
- 2022
11. Oral Microbiota during Childhood and Its Role in Chemotherapy-Induced Oral Mucositis in Children with Cancer
- Author
-
Triarico, S., Agresti, Pierpaolo, Rinninella, Emanuele, Mele, Maria Cristina, Romano, A., Attina, G., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Agresti P., Rinninella E. (ORCID:0000-0002-9165-2367), Mele M. C. (ORCID:0000-0003-0153-5819), Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S., Agresti, Pierpaolo, Rinninella, Emanuele, Mele, Maria Cristina, Romano, A., Attina, G., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Agresti P., Rinninella E. (ORCID:0000-0002-9165-2367), Mele M. C. (ORCID:0000-0003-0153-5819), Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
The human oral cavity harbors the second most abundant microbiota after the gastrointestinal tract, with over 700 species currently identified in the oral microflora. The oral microbiota develops from intrauterine life and after birth is continuously shaped by several influencing factors. The perturbation of the diversity and proportions of species within the oral microbiota leads to dysbiosis and associated increased risk of local and systemic diseases. In children who receive chemotherapy for cancer, oral mucositis is a common and painful side effect that decreases quality of life (QoL) and treatment adherence. The oral microbiota undergoes a substantial dysbiosis as an effect of cancer and its treatment, characterized by lower richness and less diversity. Furthermore, this dysbiosis seems to promote pro-inflammatory cytokine release and pro-apoptotic mediators, enhancing the oral tissue damage. Further studies on the role of the oral microbiota in the pathogenesis of oral mucositis should be performed among children with cancer who receive chemotherapy, to find preventive and protective factors against the pathogenesis of oral mucositis.
- Published
- 2022
12. Author Correction: The climatic and genetic heritage of Italian goat breeds with genomic SNP data (Scientific Reports, (2021), 11, 1, (10986), 10.1038/s41598-021-89900-2)
- Author
-
Cortellari, M., Barbato, M., Talenti, A., Bionda, A., Carta, A., Ciampolini, R., Ciani, E., Crisà, A., Frattini, S., Lasagna, E., Marletta, D., Mastrangelo, S., Negro, A., Randi, E., Sarti, F. M., Sartore, S., Soglia, D., Liotta, L., Stella, A., Ajmone Marsan, Paolo, Pilla, F., Colli, Licia, Crepaldi, P., Ajmone Marsan P. (ORCID:0000-0003-3165-4579), Colli L. (ORCID:0000-0002-7221-2905), Cortellari, M., Barbato, M., Talenti, A., Bionda, A., Carta, A., Ciampolini, R., Ciani, E., Crisà, A., Frattini, S., Lasagna, E., Marletta, D., Mastrangelo, S., Negro, A., Randi, E., Sarti, F. M., Sartore, S., Soglia, D., Liotta, L., Stella, A., Ajmone Marsan, Paolo, Pilla, F., Colli, Licia, Crepaldi, P., Ajmone Marsan P. (ORCID:0000-0003-3165-4579), and Colli L. (ORCID:0000-0002-7221-2905)
- Abstract
Local adaptation of animals to the environment can abruptly become a burden when faced with rapid climatic changes such as those foreseen for the Italian peninsula over the next 70 years. Our study investigates the genetic structure of the Italian goat populations and links it with the environment and how genetics might evolve over the next 50 years. We used one of the largest national datasets including > 1000 goats from 33 populations across the Italian peninsula collected by the Italian Goat Consortium and genotyped with over 50 k markers. Our results showed that Italian goats can be discriminated in three groups reflective of the Italian geography and its geo-political situation preceding the country unification around two centuries ago. We leveraged the remarkable genetic and geographical diversity of the Italian goat populations and performed landscape genomics analysis to disentangle the relationship between genotype and environment, finding 64 SNPs intercepting genomic regions linked to growth, circadian rhythm, fertility, and inflammatory response. Lastly, we calculated the hypothetical future genotypic frequencies of the most relevant SNPs identified through landscape genomics to evaluate their long-term effect on the genetic structure of the Italian goat populations. Our results provide an insight into the past and the future of the Italian local goat populations, helping the institutions in defining new conservation strategy plans that could preserve their diversity and their link to local realities challenged by climate change
- Published
- 2021
13. Transdermal buprenorphine for pain management in children
- Author
-
Attina, G., Romano, A., Triarico, S., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Attina, G., Romano, A., Triarico, S., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Pain is one of the main symptoms reported by sick children, particularly by those suffering from cancer. Opioids are very useful in controlling this symptom but they are burdened with significant side effects that limit their use in children. Buprenorphine is a strong opioid that, due to its particular pharmacological characteristics, ensures excellent pain relief with fewer side effects than other opioids. The transdermal formulation allows for good pain control associated with optimal compliance by patients and few limitations on daily life. Unfortunately, transdermal buprenorphine use remains off-label for the control of chronic pain in children; therefore, it is desirable that new studies can validate its use in the paediatric population. This review aims to analyse the clinical advantages of transdermal buprenorphine in the paediatric population and the possible side effects registered in daily clinical practice.
- Published
- 2021
14. Vincristine-induced peripheral neuropathy (Vipn) in pediatric tumors: Mechanisms, risk factors, strategies of prevention and treatment
- Author
-
Triarico, S., Romano, A., Attina, G., Capozza, M. A., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S., Romano, A., Attina, G., Capozza, M. A., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Vincristine-induced peripheral neurotoxicity (VIPN) is a very common side effect of vincristine chemotherapy among pediatric patients with cancer. Neuropathy may be sensory, motor and/or autonomic, with consequent reduction, delay or discontinuation of vincristine-chemotherapy, but also pain, disability, reduced quality of life of patients and an increase in medical costs. Vincristine acts out its antineoplastic function by altering the normal assembly and disassembly of microtubules, with their consequent mitosis block and death. Vincristine leads to VIPN through a complex mechanism of damage, which occurs not only on the microtubules, but also on the endothelium and the mitochondria of nerve cells. Furthermore, both patient-related risk factors (age, race, ethnicity and genetic polymorphisms) and treatment-related risk factors (dose, time of infusion and drug–drug interactions) are involved in the pathogenesis of VIPN. There is a lack of consensus about the prophylaxis and treatment of VIPN among pediatric oncologic patients, despite several molecules (such as gabapentin, pyridoxine and pyridostigmine, glutamic acid and glutamine) having been already investigated in clinical trials. This review describes the molecular mechanisms of VIPN and analyzes the risk factors and the principal drugs adopted for the prophylaxis and treatment of VIPN in pediatric patients with cancer.
- Published
- 2021
15. 131-I-metaiodobenzylguanidine and chemotherapy for advanced neuroblastoma
- Author
-
Mastrangelo, Stefano, Attina, G., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Mastrangelo, Stefano, Attina, G., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
No abstract available
- Published
- 2021
16. Mechanisms, characteristics and treatment of neuropathic pain and peripheral neuropathy associated with dinutuximab in neuroblastoma patients
- Author
-
Mastrangelo, Stefano, Rivetti, Serena, Triarico, S., Romano, A., Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Rivetti S., Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Mastrangelo, Stefano, Rivetti, Serena, Triarico, S., Romano, A., Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Rivetti S., Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Prognosis of metastatic neuroblastoma is very poor. Its treatment includes induction chemotherapy, surgery, high‐dose chemotherapy, radiotherapy, and maintenance with retinoic acid, associated with the anti‐GD2 monoclonal antibody (ch14.18) dinutuximab. Immunotherapy determined a significant improvement in survival rate and is also utilized in relapsed and resistant neuroblastoma patients. Five courses of dinutuximab 100 mg/m2 are usually administered as a 10‐ day continuous infusion or over 5 consecutive days every 5 weeks. Dinutuximab targets the disialoganglioside GD2, which is highly expressed on neuroblastoma cells and minimally present on the surface of normal human neurons, peripheral pain fibers, and skin melanocytes. Anti GD2 antibodies bind to surface GD2 and determine the lysis of neuroblastoma cells induced by immune response via the antibody‐dependent cellular cytotoxicity and the complement‐dependent cytotoxicity. Dinutuximab has significant side effects, including neuropathic pain, peripheral neuropathy, hypersensitivity reactions, capillary leak syndrome, photophobia, and hypotension. The most important side effect is neuropathic pain, which is triggered by the same antibody–antigen immune response, but generates ectopic activity in axons, which results in hyperalgesia and spontaneous pain. Pain can be severe especially in the first courses of dinutuximab infusion, and requires the administration of gabapentin and continuous morphine infusion. This paper will focus on the incidence, mechanisms, characteristics, and treatment of neuropathic pain and peripheral neuropathy due to dinutuximab administration in neuroblastoma patients.
- Published
- 2021
17. On the origin and diversification of Podolian cattle breeds: testing scenarios of European colonization using genome-wide SNP data
- Author
-
Senczuk, G., Mastrangelo, S., Ajmone Marsan, Paolo, Becskei, Z., Colangelo, P., Colli, Licia, Ferretti, L., Karsli, T., Lancioni, H., Lasagna, E., Marletta, D., Persichilli, C., Portolano, B., Sarti, F. M., Ciani, E., Pilla, F., Ajmone Marsan P. (ORCID:0000-0003-3165-4579), Colli L. (ORCID:0000-0002-7221-2905), Senczuk, G., Mastrangelo, S., Ajmone Marsan, Paolo, Becskei, Z., Colangelo, P., Colli, Licia, Ferretti, L., Karsli, T., Lancioni, H., Lasagna, E., Marletta, D., Persichilli, C., Portolano, B., Sarti, F. M., Ciani, E., Pilla, F., Ajmone Marsan P. (ORCID:0000-0003-3165-4579), and Colli L. (ORCID:0000-0002-7221-2905)
- Abstract
Background: During the Neolithic expansion, cattle accompanied humans and spread from their domestication centres to colonize the ancient world. In addition, European cattle occasionally intermingled with both indicine cattle and local aurochs resulting in an exclusive pattern of genetic diversity. Among the most ancient European cattle are breeds that belong to the so-called Podolian trunk, the history of which is still not well established. Here, we used genome-wide single nucleotide polymorphism (SNP) data on 806 individuals belonging to 36 breeds to reconstruct the origin and diversification of Podolian cattle and to provide a reliable scenario of the European colonization, through an approximate Bayesian computation random forest (ABC-RF) approach. Results: Our results indicate that European Podolian cattle display higher values of genetic diversity indices than both African taurine and Asian indicine breeds. Clustering analyses show that Podolian breeds share close genomic relationships, which suggests a likely common genetic ancestry. Among the simulated and tested scenarios of the colonization of Europe from taurine cattle, the greatest support was obtained for the model assuming at least two waves of diffusion. Time estimates are in line with an early migration from the domestication centre of non-Podolian taurine breeds followed by a secondary migration of Podolian breeds. The best fitting model also suggests that the Italian Podolian breeds are the result of admixture between different genomic pools. Conclusions: This comprehensive dataset that includes most of the autochthonous cattle breeds belonging to the so-called Podolian trunk allowed us not only to shed light onto the origin and diversification of this group of cattle, but also to gain new insights into the diffusion of European cattle. The most well-supported scenario of colonization points to two main waves of migrations: with one that occurred alongside with the Neolithic human expansion a
- Published
- 2021
18. Genome-wide diversity of Pagliarola sheep residual population and its conservation implication
- Author
-
Persichilli, C., Senczuk, G., Pasqualino, L., Anzalone, D. A., Negrini, Riccardo, Ajmone Marsan, Paolo, Colli, Licia, Pilla, F., Mastrangelo, S., Negrini R. (ORCID:0000-0002-8735-0286), Ajmone Marsan P. (ORCID:0000-0003-3165-4579), Colli L. (ORCID:0000-0002-7221-2905), Persichilli, C., Senczuk, G., Pasqualino, L., Anzalone, D. A., Negrini, Riccardo, Ajmone Marsan, Paolo, Colli, Licia, Pilla, F., Mastrangelo, S., Negrini R. (ORCID:0000-0002-8735-0286), Ajmone Marsan P. (ORCID:0000-0003-3165-4579), and Colli L. (ORCID:0000-0002-7221-2905)
- Abstract
Local breeds represent an underestimated resource in terms not only of their important cultural and economical role in marginal areas, but also because they often own a potential genetic pool well adapted to extreme conditions. This fact is of increasing interest, especially when considering climate global challenges where peculiar and uncommon traits could be advantageous. In this study, we genotyped 24 individuals belonging to the small residual Pagliarola sheep population using the OvineSNP50K array, in order to compare its genomic architecture with other 21 Italian local breeds. Moreover, we performed the fixation index (FST) outlier analysis to identify genes most differentiated between Pagliarola and Merino-derived Italian breeds. All population genetic analyses highlighted that Pagliarola breed represents a distinct genetic unit showing a genetic relationship with Merino-derived breeds underlying the close cultural connection between these breeds related to transhumance. However, Pagliarola breed resulted to be divided into two different sub-populations, named Pagliarola 1 (PAG-1) and Pagliarola 2 (PAG-2). Genetic diversity indices and inbreeding estimated from runs of homozygosity (FROH) indicated that while PAG-1 showed among the highest values, PAG-2 turned out strongly inbred, probably as a consequence of a founder effect. The FST outlier analysis identified the 5 most differentiated single nucleotide polymorphisms, two of which mapping within known genes (MACF1 and GLIS1) reported to be linked to feed efficiency and local adaption. All these information strongly suggest that proper conservation measures should be implemented in order to recover the Pagliarola population and its fundamental local products.HIGHLIGHTS All population genetic analyses highlighted that Pagliarola breed represent a distinct genetic unit, and clusters with the Merino-derived Italian breeds. The breed resulted to be divided into two different sub-populations. For the two Pagliaro
- Published
- 2021
19. Managing children with brain tumors during the COVID-19 era: Don't stop the care!
- Author
-
Capozza, M. A., Triarico, S., Attina, G., Romano, Alberto, Mastrangelo, Stefano, Maurizi, Palma, Frassanito, Paolo, Bianchi, Federico, Verdolotti, Tommaso, Gessi, Marco, Balducci, Mario, Massimi, Luca, Tamburrini, Gianpiero, Ruggiero, Antonio, Romano A., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Frassanito P., Bianchi F., Verdolotti T., Gessi M., Balducci M. (ORCID:0000-0003-0398-9726), Massimi L., Tamburrini G. (ORCID:0000-0002-7139-5711), Ruggiero A. (ORCID:0000-0002-6052-3511), Capozza, M. A., Triarico, S., Attina, G., Romano, Alberto, Mastrangelo, Stefano, Maurizi, Palma, Frassanito, Paolo, Bianchi, Federico, Verdolotti, Tommaso, Gessi, Marco, Balducci, Mario, Massimi, Luca, Tamburrini, Gianpiero, Ruggiero, Antonio, Romano A., Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Frassanito P., Bianchi F., Verdolotti T., Gessi M., Balducci M. (ORCID:0000-0003-0398-9726), Massimi L., Tamburrini G. (ORCID:0000-0002-7139-5711), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
The COVID-19 pandemic has substantially stressed health care systems globally, subsequently reducing cancer care services and delaying treatments. Pediatric populations infected by COVID-19 have shown mild clinical symptoms compared to adults, perhaps due to decreased susceptibility. Several scientific societies and governments have released information on the management of patients with cancer, wherein they warn against exposure to SARS-CoV-2 infection and suggest continuing treatment. To determine the best diagnostic and therapeutic approach, multidisciplinary tumor boards should convene regularly, including through conference calls and telematics platforms. A prompt diagnostic workup may reduce children's suffering and prevent loss of confidence in the health care system among parents. Moreover, ensuring adequate support and information regarding measures for preventing SARS-CoV-2 infection in pediatric patients and their families is essential for avoiding panic and excessive stress, allowing early reporting of any suspected symptoms of cancer and, in turn, facilitating early diagnosis and prompt modulation of treatment.
- Published
- 2021
20. Management of Oral Mucositis in Children With Malignant Solid Tumors
- Author
-
Attina, G., Romano, Alberto, Maurizi, Palma, D'Amuri, S., Mastrangelo, Stefano, Capozza, M. A., Triarico, S., Ruggiero, Antonio, Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Attina, G., Romano, Alberto, Maurizi, Palma, D'Amuri, S., Mastrangelo, Stefano, Capozza, M. A., Triarico, S., Ruggiero, Antonio, Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Introduction: In recent years, the use of intensive regimens for the treatment of pediatric cancer has led to a marked improvement in patient survival. However, these treatments are associated with an increase in toxic effects. Among these side effects, mucositis (inflammation of the oral cavity) significantly affect the success of treatment. The aim of this study was to assess the prevalence of mucositis in a pediatric population with solid tumor and undergoing chemotherapy, identify the risk factors that influence its occurrence, and verify the usefulness of pain rating scales. Methods: We registered episodes of mucositis which occurred in a sample of 84 consecutive children with solid tumors between 1 January, 2012 and 30 April, 2018. The World Health Organization (WHO) oral mucositis grading scale and the modified Wong–Baker FACES Pain Rating Scale (WBS) were used to assess the severity of each episode. Moreover, data on the treatments used and blood count results were collected. Results: The prevalence of mucositis in our population was 50%, without statistically significant difference according to sex and a higher prevalence observed in patients aged >10 years. The presence of neutropenia, higher number of cycles of chemotherapy, and co-existence of lymphomas and sarcomas were identified as factors favoring the occurrence of mucositis. The WBS showed results superimposed on the WHO oral mucositis grading scale in choosing the intensity and duration of mucositis treatment. Conclusion: Oral mucositis is a common complication of chemotherapy against childhood malignancies. The WHO oral mucositis scale is a valuable tool for assessing its severity in pediatric patients. Furthermore, WBS can be used as an assessment tool to establish the therapy to be adopted for patients in whom direct evaluation of the oral cavity is not possible.
- Published
- 2021
21. Genome-wide analyses reveal population structure and identify candidate genes associated with tail fatness in local sheep from a semi-arid area
- Author
-
Baazaoui, I., primary, Bedhiaf-Romdhani, S., additional, Mastrangelo, S., additional, and Ciani, E., additional
- Published
- 2021
- Full Text
- View/download PDF
22. Genome-wide analysis reveals the patterns of genetic diversity and population structure of 8 Italian local chicken breeds
- Author
-
Cendron, F., primary, Mastrangelo, S., additional, Tolone, M., additional, Perini, F., additional, Lasagna, E., additional, and Cassandro, M., additional
- Published
- 2021
- Full Text
- View/download PDF
23. Effects of Cimicifuga racemosa extract on liver morphology and hepatic function indices
- Author
-
Mazzanti, G., Di Sotto, A., Franchitto, A., Mastrangelo, S., Pezzella, M., Vitalonc, A., and Mammola, C.L.
- Subjects
Black cohosh -- Usage -- Health aspects -- Chemical properties -- Research ,Materia medica, Vegetable -- Usage -- Health aspects -- Chemical properties -- Research ,Plant extracts -- Usage -- Health aspects -- Chemical properties -- Research ,Liver cirrhosis -- Care and treatment -- Research ,Biological sciences ,Health ,Science and technology - Abstract
Abstract Cimicifuga racemosa (black cohosh) is a herbaccous perennial plant, that has been traditionally used for a variety of ailments (dyspepsia, climacteric complaints, muscular rheumatisms, menstrual cramps). Fro laboratory and [...]
- Published
- 2008
24. Childhood Medulloblastoma: Old Challenges, New Perspectives
- Author
-
Attina, G., Ariano, A., Triarico, S., Capozza, M. A., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Attina, G., Ariano, A., Triarico, S., Capozza, M. A., Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Medulloblastoma (MB) is the first primary central nervous system cancer of infancy. During the last thirty years, there has been an evolution of its treatment: although chemotherapy and radiotherapy have improved the prognosis, surgery remains a determinant key-factor for therapeutic outcome. The search of an effective adjuvant treatment along with a reduced toxicity is difficult. Following treatment with surgery, chemotherapy and radiotherapy, the prognosis for infants and young children with MB is still unfavourable and burdened by an high risk of neurocognitive deficits. The biological features of MB are not fully characterized, but now there are important directions for research. Clinical and molecular prognostic markers can be used to create a disease risk classification. In our review we resume the main features of MB, including clinical, histopathologic and molecular aspects and discuss on the therapeutic options for its treatment.
- Published
- 2020
25. Efficacy of temozolomide in children with solid tumors
- Author
-
Ariano, A., Attina, G., Triarico, S., Coccia, P., Capozza, M. A., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Ariano, A., Attina, G., Triarico, S., Coccia, P., Capozza, M. A., Mastrangelo, Stefano, Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Temozolomide, an alkylating drug first adopted to treat patients with malignant gliomas, is actually an antineoplastic drug used in various regimens against childhood tumors. Treatment with temozolomide is an effective therapy for different childhood tumor types: brain tumors, neuroblastomas, Ewing’s sarcoma, and rhabdomyosarcomas. Temozolomide has been used both as monotherapy and in polychemotherapy in combination with epipodophyllotoxins, camptothecin analogues, platinum compounds, vinca alkaloids and radiotherapy. The present study analyzes the treatment schedules including temozolomide in different cancer pathologies by comparing the results, in order to evaluate the efficacy of each treatment modality
- Published
- 2020
26. Pharmacology and scheduling of Temozolomide
- Author
-
Attina, G., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero A. (ORCID:0000-0002-6052-3511), Attina, G., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Ruggiero, Antonio, Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Temozolomide (TMZ) is an alkylating drug, belonging to the family of derivatives of Imidazotetrazinone. Pre-clinical studies showed that TMZ has a good bioavailability after oral administration and is able to cross the blood-brain barrier. Due to these peculiar pharmaco-dynamic features, TMZ has been first adopted in the treatment of malignant brain tumors. The clinical use of TMZ has shown that the drug has a negligible toxicity and its antitumor activity is “schedule-dependent”. Therefore, many schedules of TMZ administration have been developed in order to investigate and ameliorate its antitumoral efficacy. A higher response rate was detected when the TMZ total dose is administered over 5 days. Recently, the activity of TMZ in combination with different antineoplastic agents is under investigation in children and adults in order to test its activity in malignant tumours other than brain tumors.
- Published
- 2020
27. Carboplatin-related toxicity in children with cancer
- Author
-
Mastrangelo, Stefano, Attina, G., Romano, Alberto, Capozza, M. A., Maurizi, Palma, Triarico, S., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Mastrangelo, Stefano, Attina, G., Romano, Alberto, Capozza, M. A., Maurizi, Palma, Triarico, S., Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Carboplatin is characterized by a subcellular mechanism of action similar to that of cisplatin although its clinical spectrum of side effects differs somewhat from that of cisplatin. Its half-life is 170 ± 34 minutes and is independent of dose; myelosuppression represents its dose-limiting toxicity. Many studies have shown that carboplatin has no clinically apparent nephrotoxicity or neurotoxicity; therefore, carboplatin may be an alternative to cisplatin in clinical circumstances where the renal or neural toxicities are dose-limiting considerations. In patients with normal renal function, carboplatin can be administered up to 600 mg/sqm with leukopenia and thrombocytopenia reversing within 14 days of drug administration. In our review, we describe the pharmacological profile and the toxicities related to the use of carboplatin for the treatment of children with cancer.
- Published
- 2020
28. Comparative selection signature analyses identify genomic footprints in Reggiana cattle, the traditional breed of the Parmigiano-Reggiano cheese production system
- Author
-
Bertolini, Francesca, Schiavo, G., Bovo, S, Sardina, M. T., Mastrangelo, S., Dall'Olio, S., Portolano, B., Fontanesi, L., Bertolini, Francesca, Schiavo, G., Bovo, S, Sardina, M. T., Mastrangelo, S., Dall'Olio, S., Portolano, B., and Fontanesi, L.
- Abstract
Reggiana is an autochthonous cattle breed reared mainly in the province of Reggio Emilia, located in the North of Italy. Reggiana cattle (originally a triple-purpose population largely diffused in the North of Italy) are characterised by a typical solid red coat colour. About 2500 cows of this breed are currently registered to its herd book. Reggiana is now considered a dual-purpose breed even if it is almost completely dedicated to the production of a mono-breed branded Protected Designation of Origin Parmigiano-Reggiano cheese, which is the main driver of the sustainable conservation of this local genetic resource. In this study, we provided the first overview of genomic footprints that characterise Reggiana and define the diversity of this local cattle breed. A total of 168 Reggiana sires (all bulls born over 35 years for which semen was available) and other 3321 sires from 3 cosmopolitan breeds (Brown, Holstein and Simmental) were genotyped with the Illumina BovineSNP50 panel. ADMIXTURE analysis suggested that Reggiana breed might have been influenced, at least in part, by the other three breeds included in this study. Selection signatures in the Reggiana genome were identified using three statistical approaches based on allele frequency differences among populations or on properties of haplotypes segregating in the populations (fixation index (FST); integrated haplotype score; cross-population extended haplotype homozygosity). We identified several regions under peculiar selection in the Reggiana breed, particularly on bovine chromosome (BTA) 6 in the KIT gene region, that is known to be involved in coat colour pattern distribution, and within the region of the LAP3, NCAPG and LCORL genes, that are associated with stature, conformation and carcass traits. Another already known region that includes the PLAG1 gene (BTA14), associated with conformation traits, showed a selection signature in the Reggiana cattle. On BTA
- Published
- 2020
29. Temozolomide and oral etoposide in children with recurrent malignant brain tumors
- Author
-
Ruggiero, Antonio, Ariano, A., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero, Antonio, Ariano, A., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), and Mastrangelo S. (ORCID:0000-0002-3305-6014)
- Abstract
Despite advances in the treatment of brain tumors, the prognosis of children with recurrent malignant brain tumors remains poor. Etoposide (VP-16), an inhibitor of nuclear enzyme deoxyribonucleic acid (DNA)-topoisomerase II, has shown activity in brain tumors. Its efficacy appears schedule dependent but, to date, the most effective schedule of administration has not been well defined. Temozolomide (TMZ), like VP-16, penetrates the blood-brain barrier and has activity against malignant brain tumors. This novel alkylating agent is rapidly absorbed and is highly bioavailable after oral administration. The antitumor activity of TMZ has been shown to be schedule dependent. Based on the evidence of different mechanisms of cytotoxicity, TMZ and VP-16 have been utilized in combination in patients with malignant brain tumors. This review evaluates the results derived from the combination use of TMZ and oral VP-16. The reported data suggest potential activity of oral VP-16 and TMZ alone or in combination. Further clinical trials are needed to explore and confirm their promising activity in relapsed brain neoplasms.
- Published
- 2020
30. Cisplatin-induced nephrotoxicity in children: what is the best protective strategy?
- Author
-
Ruggiero, Antonio, Ariano, A., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero, Antonio, Ariano, A., Triarico, S., Capozza, M. A., Romano, Alberto, Maurizi, Palma, Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Romano A., Maurizi P. (ORCID:0000-0002-5930-0193), and Mastrangelo S. (ORCID:0000-0002-3305-6014)
- Abstract
Introduction: Platinum compounds, which are considerably effective for the treatment of childhood malignancies, have significantly contributed to the increase in long-term survival of children with cancer. Unfortunately, children receiving cisplatin-based chemotherapy have been known to be at risk for severe disabling adverse effects, such as nephrotoxicity. Methods: A literature research of the MEDLINE PubMed database was conducted to identify articles published between 1980 and 2019 reviewing “Cisplatin AND mannitol.” Results: The primary pharmacodynamics and clinical characteristics of cisplatin were described, focusing on its renal toxic effects and potential preventive strategies, in order to improve clinical outcomes among children with cancer aged 1 to 14 years. Currently, selecting either hydration alone or hydration plus mannitol for preventing nephrotoxicity has been controversial considering the lack of guidelines to provide treatment recommendations both among adults and children. Conclusions: Appropriate knowledge regarding the pharmacokinetics and toxicological profile of cisplatin may help physicians prevent renal toxicity. Unfortunately, published data regarding the nephroprotective utility of adding mannitol appear to be inconclusive. As such, appropriate hydration remains the main fundamental strategy for reducing the risk of cisplatin-induced nephrotoxicity. Considering the increasing number of children safely cured of their tumours, it is imperative that those treated with cisplatin receive the most appropriate nephroprotective strategy for reducing the negative impact of platinum compounds on quality of life.
- Published
- 2020
31. Multifocal infantile haemangiomatosis with hepatic involvement: Two cases and treatment management
- Author
-
Ruggiero, Antonio, Maurizi, Palma, Triarico, S., Capozza, M. A., Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Ruggiero, Antonio, Maurizi, Palma, Triarico, S., Capozza, M. A., Mastrangelo, Stefano, Attina, G., Ruggiero A. (ORCID:0000-0002-6052-3511), Maurizi P. (ORCID:0000-0002-5930-0193), and Mastrangelo S. (ORCID:0000-0002-3305-6014)
- Abstract
Infantile haemangiomas (IHs) are the most common benign tumours of childhood; despite the benign histology, prognosis depends on severity of visceral involvement, with a mortality rate ranging from 50 to 90%. In this paper, we describe two infants with multifocal infantile haemangiomatosis and hepatic involvement. This condition should receive appropriate management as it can be potentially lethal due to the high risk of systemic complications such as cardiac or fulminant hepatic failure and abdominal compartment syndrome. Both cases presented with liver involvement, but only the infant who had an excellent response to propranolol is still alive. A review of current therapeutic approaches is also presented even though there are, at present, no uniform guidelines for treatment, despite the relative frequency of infantile haemangiomatosis and the potential severe complications.
- Published
- 2020
32. On the origin of European sheep as revealed by the diversity of the Balkan breeds and by optimizing population-genetic analysis tools
- Author
-
Ciani, E., Mastrangelo, S., Da Silva, A., Marroni, F., Ferencakovic, M., Ajmone Marsan, Paolo, Baird, H., Barbato, Mario, Colli, Licia, Delvento, C., Dovenski, T., Gorjanc, G., Hall, S. J. G., Hoda, A., Li, M. -H., Markovic, B., Mcewan, J., Moradi, M. H., Ruiz-Larranaga, O., Ruzic-Muslic, D., Salamon, D., Simcic, M., Stepanek, O., Curik, I., Cubric-Curik, V., Lenstra, J. A., Ajmone-Marsan Paolo. (ORCID:0000-0003-3165-4579), Barbato M. (ORCID:0000-0002-7203-1549), Colli L. (ORCID:0000-0002-7221-2905), Ciani, E., Mastrangelo, S., Da Silva, A., Marroni, F., Ferencakovic, M., Ajmone Marsan, Paolo, Baird, H., Barbato, Mario, Colli, Licia, Delvento, C., Dovenski, T., Gorjanc, G., Hall, S. J. G., Hoda, A., Li, M. -H., Markovic, B., Mcewan, J., Moradi, M. H., Ruiz-Larranaga, O., Ruzic-Muslic, D., Salamon, D., Simcic, M., Stepanek, O., Curik, I., Cubric-Curik, V., Lenstra, J. A., Ajmone-Marsan Paolo. (ORCID:0000-0003-3165-4579), Barbato M. (ORCID:0000-0002-7203-1549), and Colli L. (ORCID:0000-0002-7221-2905)
- Abstract
Background: In the Neolithic, domestic sheep migrated into Europe and subsequently spread in westerly and northwesterly directions. Reconstruction of these migrations and subsequent genetic events requires a more detailed characterization of the current phylogeographic differentiation. Results: We collected 50 K single nucleotide polymorphism (SNP) profiles of Balkan sheep that are currently found near the major Neolithic point of entry into Europe, and combined these data with published genotypes from southwest-Asian, Mediterranean, central-European and north-European sheep and from Asian and European mouflons. We detected clines, ancestral components and admixture by using variants of common analysis tools: geography-informative supervised principal component analysis (PCA), breed-specific admixture analysis, across-breed $f_{4}$ f 4 profiles and phylogenetic analysis of regional pools of breeds. The regional Balkan sheep populations exhibit considerable genetic overlap, but are clearly distinct from the breeds in surrounding regions. The Asian mouflon did not influence the differentiation of the European domestic sheep and is only distantly related to present-day sheep, including those from Iran where the mouflons were sampled. We demonstrate the occurrence, from southeast to northwest Europe, of a continuously increasing ancestral component of up to 20% contributed by the European mouflon, which is assumed to descend from the original Neolithic domesticates. The overall patterns indicate that the Balkan region and Italy served as post-domestication migration hubs, from which wool sheep reached Spain and north Italy with subsequent migrations northwards. The documented dispersal of Tarentine wool sheep during the Roman period may have been part of this process. Our results also reproduce the documented 18th century admixture of Spanish Merino sheep into several central-European breeds. Conclusions: Our results contribute to a better understanding of the events th
- Published
- 2020
33. Comparative selection signature analyses identify genomic footprints in Reggiana cattle, the traditional breed of the Parmigiano-Reggiano cheese production system
- Author
-
Bertolini, F., primary, Schiavo, G., additional, Bovo, S., additional, Sardina, M.T., additional, Mastrangelo, S., additional, Dall’Olio, S., additional, Portolano, B., additional, and Fontanesi, L., additional
- Published
- 2020
- Full Text
- View/download PDF
34. The antimutagenic activity of Lavandula angustifolia (lavender) essential oil in the bacterial reverse mutation assay
- Author
-
Evandri, M.G., Battinelli, L., Daniele, C., Mastrangelo, S., Bolle, P., and Mazzanti, G.
- Published
- 2005
- Full Text
- View/download PDF
35. Successful treatment with oral valganciclovir in immunocompetent infant with gastrointestinal manifestations of cytomegalovirus infection
- Author
-
Buonuomo, P S, Maurizi, P, Valentini, P, Mastrangelo, S, Lazzareschi, I, Ridola, V, and Riccardi, R
- Published
- 2006
36. Adult medulloblastoma: an overview on current and future strategies of treatment
- Author
-
Capozza, M. A., Trombatore, G., Triarico, S., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), Ruggiero A. (ORCID:0000-0002-6052-3511), Capozza, M. A., Trombatore, G., Triarico, S., Mastrangelo, Stefano, Attina, G., Maurizi, Palma, Ruggiero, Antonio, Mastrangelo S. (ORCID:0000-0002-3305-6014), Maurizi P. (ORCID:0000-0002-5930-0193), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
Introduction: Medulloblastoma (MB) is the most common brain malignant tumor in children, conversely it is less frequent among adult population, accounting less 1% of adult intracranial tumors. Adult MB shows different characteristics and outcomes than pediatric MB. Areas covered: This article compares epidemiology, pathology, radiologic features, prognosis, risk stratification, molecular genetics, current and future treatment strategies of adult and pediatric medulloblastoma (MB). Expert opinion: The correct neuro-radiological diagnosis of adult MB remains a challenge, because of the lack of consensus about the choice of chemotherapeutic agents. Pediatric MB protocols have often limited application in adults, because of their less tolerance to chemotherapy. The added difficulty derives from the absence of a systematic description of the management and outcome of the relapses. Sonic Hedgehog Homolog (SHH) MB represents about 30% of all MB and is the first subgroup to be targeted by a molecularly focused therapy. Despite significant advances have been achieved in the development of SHH inhibitors, still the persistence of primary and acquired drug resistance represents an unresolved challenge. Prospective studies should be performed with international and multidisciplinary collaboration to guide future treatment choices.
- Published
- 2019
37. Serum biomarkers for sepsis in children with febrile neutropenia and cancer
- Author
-
Ruggiero, Antonio, Pocino, Krizia, Catalano, M, Maurizi, Palma, D'Ambra, M, Rizzo, Daniela, Triarico, S, Attinà, G, Mastrangelo, Stefano, Capoluongo, Ettore Domenico, Ruggiero, A (ORCID:0000-0002-6052-3511), Pocino, K (ORCID:0000-0003-2456-5308), Maurizi, P (ORCID:0000-0002-5930-0193), Rizzo, D (ORCID:0000-0003-1809-5901), Mastrangelo, S (ORCID:0000-0002-3305-6014), Capoluongo, E D (ORCID:0000-0001-9872-0572), Ruggiero, Antonio, Pocino, Krizia, Catalano, M, Maurizi, Palma, D'Ambra, M, Rizzo, Daniela, Triarico, S, Attinà, G, Mastrangelo, Stefano, Capoluongo, Ettore Domenico, Ruggiero, A (ORCID:0000-0002-6052-3511), Pocino, K (ORCID:0000-0003-2456-5308), Maurizi, P (ORCID:0000-0002-5930-0193), Rizzo, D (ORCID:0000-0003-1809-5901), Mastrangelo, S (ORCID:0000-0002-3305-6014), and Capoluongo, E D (ORCID:0000-0001-9872-0572)
- Abstract
N/A
- Published
- 2019
38. Impact of malnutrition on survival and infections among pediatric patients with cancer: a retrospective study.
- Author
-
Triarico, S, Rinninella, Emanuele, Cintoni, Marco, Capozza, Michele Antonio, Mastrangelo, Stefano, Mele, Maria Cristina, Ruggiero, Antonio, Rinninella E (ORCID:0000-0002-9165-2367), Cintoni M (ORCID:0000-0002-9610-0748), Capozza MA, Mastrangelo S (ORCID:0000-0002-3305-6014), Mele MC (ORCID:0000-0003-0153-5819), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S, Rinninella, Emanuele, Cintoni, Marco, Capozza, Michele Antonio, Mastrangelo, Stefano, Mele, Maria Cristina, Ruggiero, Antonio, Rinninella E (ORCID:0000-0002-9165-2367), Cintoni M (ORCID:0000-0002-9610-0748), Capozza MA, Mastrangelo S (ORCID:0000-0002-3305-6014), Mele MC (ORCID:0000-0003-0153-5819), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
OBJECTIVE: Recognizing and managing malnutrition among hospitalized children affected by cancer is a rising need. Awareness and consideration of malnutrition among clinicians are still largely insufficient. This can principally be explained by the lack of consciousness and the shortage of easy and objective tools to identify malnutrition status. The aim of this study is to explore the impact of malnutrition on survival and infections among a population of pediatric patients with cancer. PATIENTS AND METHODS: All children aged between 3 and 18 years, newly diagnosed with a malignancy between August 2013 and April 2018, were included in our study. We assessed nutritional risk at diagnosis (with STRONGkids), then we evaluated anthropometric measurements (BMI Z-scores and weight loss), data about survival and number of hospitalization for febrile neutropenia (FN) in the first year after diagnosis. Cut-off values for malnourishment were chosen as BMI Z-score ≤-2.0. RESULTS: One hundred twenty-six pediatric cancer patients were included in the study. At diagnosis 36 pediatric cancer patients (28.6%) were at high risk of malnutrition (STRONGkids 4 or 5), whereas 6 (4.7%) others were malnourished (BMI Z-score≤-2.0). The risk of mortality and the rate of infections (≥3 hospitalizations for FN episodes) were significantly increased by malnutrition and rapid weight loss in the initial phase of treatment (3-6 months after diagnosis). Multivariate analysis confirmed the independent effect of weight loss≥ 5% at 3 months on both survival and infections, and the independent impact of a high risk of malnutrition at diagnosis on infections. CONCLUSIONS: A personalized evaluation of nutritional risk at diagnosis and a close monitoring of nutritional status during the initial phase of treatment are crucial for ensuring a timely and personalized nutritional intervention, which may potentially improve tolerance to chemotherapy and survival, and prevent prolonged hospitalization for infec
- Published
- 2019
39. Genome-wide scan for Runs of Homozygosity in Valle del Belice sheep
- Author
-
Mastrangelo, S., Tolone, M., Sardina, M., Sutera, A., Di Gerlando, R., Portolano, B., Mastrangelo, S., Tolone, M., Sardina, M., Sutera, A., Di Gerlando, R., and Portolano, B.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,OvineSNP50K, sheep, runs of homozygosity, candidate genes - Abstract
The current availability of very large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of genomic regions where a reduction in heterozygosity occurred and offers new opportunities to improve the accuracy of inbreeding (F) estimates. Runs of homozygosity (ROH) are contiguous lengths of homozygous segments of the genome where the two haplotypes inherited from the parents are identical. Here, we investigated the occurrence and the distribution of ROH in medium-density SNP genotypes (~ 50 000) in order to characterize autozygosity in 512 individuals of Valle del Belice sheep and identify the regions of the genome with high ROH frequencies. A total of 11 629 ROH were identified. All individuals displayed at least one ROH > 1 Mb. The mean value of FROH>1Mb was 0.084±0.061. ROH that were shorter than 10 Mb predominated. The highest coverage of chromosome (OAR) by ROH was observed on OAR24, whereas the lowest one was observed on OAR1. A typical pattern was observed for the number of ROH per OAR with higher values in the first three chromosomes. There was a considerable difference among animals for the number of ROH segments and the length of the genome covered by ROH. The genomic regions most commonly associated with ROH were identified by selecting the top 1% of the SNPs most commonly observed in ROH within breed. A total of 239 SNPs were considered as candidate SNPs and we identified 107 potential candidate genes that may be under directional selection. Six genomic regions located on six chromosomes (OAR2, OAR3, OAR4, OAR10, OAR11 and OAR23), corresponding to ROH island, presented hotspot of autozygosity. According to KEGG database, a majority of the genes were involved in multiple signaling and signal transduction pathways in a wide variety of cellular and biochemical processes. The ROH islands spanned several candidate genes which influence traits that are associated with adaptability and with the regulation of immune responses (NPAS2, PDCL3, SERPINF1 and SERPINF2) and we did not identified candidate genes with important influence on milk production traits in sheep. The Valle del Belice breed is subjected to limited breeding selection programs for milk production traits, but shows excellent adaptability to the local environments. Therefore, these results suggest at least a partial role of natural selection in shaping the genome of Valle del Belice sheep breed.
- Published
- 2017
40. Il neuroblastoma 4s. Caratteristiche alla presentazione, trattamento e out come di 268 pazienti registrati nel RINB
- Author
-
Massirio, P., Gigliotti, A. R., Erminio, G., Haupt, R., Tirtei, E., Podda, M., Provenzi, F. Bonetti4 M., D’Ippolito, C., Viscardi, E., Cesaro, S., Rabusin, M., Bertolini, P., Cellini, M., Burnelli, R., Melchionda, F., Tondo, A., Castellano, A., Mastrangelo, S., Pierani, P., Fagnani, A. M., Cecinati, V., Ruotolo, S., Pota, E., De-Leonardis, F., Miglionico, L., Di-Cataldo, A., D’Angelo, P., Nonnis, A., and B. De-Bernardi.
- Subjects
tumore pediatrico ,neuroblastoma ,classificazione ,neuroblastoma, tumore pediatrico, classificazione - Published
- 2018
41. A genome-wide perspective on the population structure of Italian cattle breeds
- Author
-
Mastrangelo, S., Ciani, E., AJMONE MARSAN, P., Bagnato, A., Battaglini, L., Bozzi, R., Carta, A., Catillo, G., Cassandro, M., Casu, S., Ciampolini, R., Crepaldi, P., D’Andrea, M., DI GERLANDO, R., Fontanesi, L., Longeri, M., Macciotta, N. P. P., Mantovani, R., Marletta, D., Matassino, D., Mele, M., Pagnacco, G., Pieramati, C., Portolano, B., Sarti, F. M., Tolone, M., Pilla, F., and S. Mastrangelo, E. Ciani, P. Ajmone Marsan, A. Bagnato, L. Battaglini, R. Bozzi, A. Carta, G. Catillo, M. Cassandro, S. Casu, R. Ciampolini, P. Crepaldi, M. D’Andrea, R. Di Gerlando, L. Fontanesi, M. Longeri, N.P.P Macciotta, R. Mantovani, D. Marletta, D. Matassino, M. Mele, G. Pagnacco, C. Pieramati, B. Portolano, F.M. Sarti, M. Tolone, Fabio Pilla
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,single nucleotide polymorphism, inbreeding, genetic diversity, population, structure, Italian cattle breeds ,single nucleotide polymorphism ,inbreeding ,population structure ,Italian cattle breeds ,single nucleotide polymorphism, inbreeding, genetic diversity, population structure, Italian cattle breeds ,genetic diversity - Abstract
Despite the growing diffusion of cosmopolite specialized breeds, several autochthonous cattle breeds and populations are still bred in Italy. The aim of this study was to provide a high-resolution picture of the genome-wide diversity and population structure of Italian local cattle breeds using medium-density genome-wide SNP markers. After data editing, the dataset included 800 samples from 32 breeds that were genotyped for 31 013 SNPs. For several breeds we observed a low level of polymorphism and genetic diversity, that together with the small effective population sizes confirmed threat of extinction. According to the runs of homozygosity analysis, evidence of recent inbreeding was strong in some breeds. Low pair-wise genetic differentiation values, shared ancestry, admixture events, and reticulations observed on the phylogenetic tree between some breeds, all suggest high levels of gene flow. Clear clusters and relationships between breeds that originated from the same region or area were detected. However, in spite the complex admixture history of most breeds, many of the local Italian cattle breeds have retained unique identities and are differentiated breeds, and this can be due to differences in the origin, differences in climate, genetic isolation and inbreeding. This study represents the first exhaustive analysis of Italian cattle diversity. The results largely agreed with the breeding history of the Italian cattle breeds. The population structure and the low genetic diversity presented here for several breeds should be useful in creating conservation strategies. If reproductive isolation within groups of the same herd and area is maintained in subsequent generations, the short-term rate of inbreeding will increase dangerously, resulting in a decrease in the effective population size and seriously damaging the breeds future. Thus, efforts should be made to improve genetic diversity in these breeds. In particular, mating decisions will play an important role in limiting inbreeding and will increase the size of these local breeds.
- Published
- 2018
42. Metodo per la tracciabilità/autenticazione di prodotti lattiero-caseari mono-razza
- Author
-
Portolano B., Chiodi M., Di Gerlando R., Sottile G., Mastrangelo S., Sardina M. T., Tolone M., Portolano, B., Chiodi, M., Di Gerlando, R., Sottile, G., Mastrangelo, S., Sardina, M., and Tolone, M.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,SNP Genotyping, Tracciabilità Molecolare, prodotto lattiero-caseario mono-razza, Analisi statistica discriminante ,Settore SECS-S/01 - Statistica - Abstract
Il brevetto consiste in un metodo per l’autenticazione e la tracciabilità genetica delle produzioni lattiero-casearie mono-razza su base molecolare con approccio statistico-probabilistico. Il metodo si basa sull’impiego di tecniche di analisi ad elevata processività (in particolare SNPs genotyping su Bead Chip Illumina) su pool di DNA e sull’applicazione di metodi computazionali innovativi. Il metodo è già stato validato su produzioni lattiero-casearie ovine quali la Vastedda della Valle del Belice (DOP), sia su prodotti lattiero caseari a DOP ottenuti in laboratorio, che su prodotti a DOP reperibili sul mercato. Il metodo può comunque essere esteso, su richiesta, a qualsiasi altro prodotto lattiero-caseario mono-razza. Le possibili applicazioni del brevetto riguardano sia la certificazione e quindi l’autenticazione di tutte le produzioni lattiero-casearie iscritte nel Registro delle denominazioni di origine protette e delle indicazioni geografiche protette per le quali si richiede la verifica dell’origine della materia prima, sia per la certificazione e l’autenticazione di tutte le produzioni lattiero-casearie, tipiche e non, per le quali si ritiene commercialmente utile la verifica del legame razza-prodotto. Il metodo consente di certificare/verificare la conformità della materia prima (il latte) utilizzata per la produzione del prodotto lattiero-caseario, per i prodotti che devono essere ottenuti esclusivamente con il latte proveniente da una determinata razza.
- Published
- 2016
43. Correction to: Multimodal treatment of pediatric patients with Askin's tumors: Our experience (World Journal of Surgical Oncology (2018) 16 (140) DOI: 10.1186/s12957-018-1434-2)
- Author
-
Triarico, S., Attina, G., Maurizi, Palma, Mastrangelo, Stefano, Nanni, Lorenzo, Briganti, V., Meacci, Elisa, Margaritora, Stefano, Balducci, Mario, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Nanni L. (ORCID:0000-0003-2569-8583), Meacci E. (ORCID:0000-0001-8424-3816), Margaritora S. (ORCID:0000-0002-9796-760X), Balducci M. (ORCID:0000-0003-0398-9726), Ruggiero A. (ORCID:0000-0002-6052-3511), Triarico, S., Attina, G., Maurizi, Palma, Mastrangelo, Stefano, Nanni, Lorenzo, Briganti, V., Meacci, Elisa, Margaritora, Stefano, Balducci, Mario, Ruggiero, Antonio, Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Nanni L. (ORCID:0000-0003-2569-8583), Meacci E. (ORCID:0000-0001-8424-3816), Margaritora S. (ORCID:0000-0002-9796-760X), Balducci M. (ORCID:0000-0003-0398-9726), and Ruggiero A. (ORCID:0000-0002-6052-3511)
- Abstract
In the original article mentioned above, the name of the sixth author was wrongly mentioned as "Vincenzo Briganti" instead of "Vito Briganti". The original article has been corrected.
- Published
- 2018
44. Diagnostic Accuracy of 18F-FDG PET/CT in the Staging and Assessment of Response to Chemotherapy in Children with Ewing Sarcoma
- Author
-
Ruggiero, Antonio, Lanni, Valerio, Librizzi, A., Maurizi, Palma, Attina, G., Mastrangelo, Stefano, Giordano, Alessandro, Riccardi, Riccardo, Ruggiero A. (ORCID:0000-0002-6052-3511), Lanni V., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Giordano A. (ORCID:0000-0002-6978-0880), Riccardi R. (ORCID:0000-0001-7515-6622), Ruggiero, Antonio, Lanni, Valerio, Librizzi, A., Maurizi, Palma, Attina, G., Mastrangelo, Stefano, Giordano, Alessandro, Riccardi, Riccardo, Ruggiero A. (ORCID:0000-0002-6052-3511), Lanni V., Maurizi P. (ORCID:0000-0002-5930-0193), Mastrangelo S. (ORCID:0000-0002-3305-6014), Giordano A. (ORCID:0000-0002-6978-0880), and Riccardi R. (ORCID:0000-0001-7515-6622)
- Abstract
Introduction: The purpose of this study was to evaluate the potential role of fluorine-18 fluorodeoxyglucose (18F-FDG) positron-emission tomography/computed tomography (PET-CT) in the staging and assessment of chemotherapy response in Ewing sarcoma. Materials and Methods: For 13 patients with Ewing sarcoma, whole-body FDG PET-CT was assessed for site of primary disease, disease extent, and response to therapy. Chest CT, localized magnetic resonance imaging or CT of primary site, and bone scintigrams were evaluated for imaging features of the primary lesion and presence or absence of metastatic disease. Response to therapy was also assessed. Descriptive statistics are reported. Results: Nine patients (69%) presented metastatic disease. All metastatic lung lesions were detected by spiral CT, but some failed to be detected using FDG PET-CT. As regards bone lesions, both FDG PET-CT and bone scans were able to identify bone metastasis, but FDG PET-CT identified more lesions than bone scans. All PET-CT scans at the end of the neoadjuvant chemotherapy showed a decreased FDG uptake. Conclusions: FDG PET-CT seems to be superior to bone scan in the detection of bone metastasis in all districts except skull bones. For pulmonary metastasis smaller than 7 mm, FDG PET-CT is less sensitive than CT. FDG PET-CT may have an important role in initial staging of Ewing sarcoma and subsequent evaluation of response to therapy.
- Published
- 2018
45. Genome-wide association study for milk production traits in Valle del Belice sheep
- Author
-
Sutera, A., Tolone, M., Mastrangelo, S., Sardina, M., Di Gerlando, R., and Portolano, B.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,GWAS, milk traits, Valle del Belice sheep - Published
- 2017
46. Genome-wide homozygosity in Maremmana cattle
- Author
-
Biscarini, F., Mastrangelo, S., Catillo, G., Moioli, B., Ciampolini, R., F. Biscarini, S. Mastrangelo, G. Catillo, B. Moioli, and R. Ciampolini.
- Subjects
Bivine Genome ,Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,runs of homozygosity (ROH) ,genome-wide homozygosity ,SNPs Markers, Bivine Genome, Marremmana Breed, runs of homozygosity (ROH) ,maremmana cattle ,SNPs Markers ,SNP markers ,Marremmana Breed ,ROH, Maremmana breed, SNPs, autozygosity - Abstract
The current availability of large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of patterns of genetic diversity and of genome-wide homozygosity in animal populations. The aim of this work was to estimate genetic diversity and homozygosity in the Maremmana cattle breed. We used a sample of 149 animals (males and females) geno-typed with the BovineSNP50 v2 (54K) Illumina BeadChip. After editing for call-rate >0.9 and removing SNP unassigned or on the sex chromosomes, 128 animals and 50,814 SNPs were left. We estimated the following genetic parameters: observed and expected heterozygosity (Ho and He), minor allele frequency (MAF), and the F IS statistic. We also scanned the genome for runs of homozygosity (ROH). In the present study, ROH were detected based on 20-SNP-long sliding-windows , and allowing for a maximum of 1 missing and 1 het-erozygote genotype, and a maximum gap between consecutive SNP of 10 5 bp. ROH contained minimum 10 SNPs, and had a minimum length of 1 Mb and a minimum density of 1 SNP every 50 kbps. The average Ho and He were 0.374 ± 0.132 and 0.365 ± 0.120, respectively, and the average MAF was 0.274 ± 0.130. These values are consistent with the range observed in other cattle breeds. We obtained some negative values for F IS (-0.162 to 0.180) which corresponded to animals with lower than average homozygosity. In total, 10,465 ROH were detected (81.75 per animal), with an average length of 2.69 Mb. Most ROH (74%) had length 2 Mb. ROH are contiguous lengths of homozygous genomic segments where the two inherited hap-lotypes are identical. ROH indicate genomic regions where a reduction in heterozygosity occurred, and offer new opportunities to estimate inbreeding (F). The inbreeding coefficient based on ROH (F ROH) was estimated by the ratio between the total ROH length and the size of the genome in each animal. Average F ROH was 0.0869 ± 0.032. Unlike inbreeding estimated based on Ho, F ROH is not influenced by allele frequencies (sampling) and can distinguish recent from ancient inbreeding. However, F ROH requires SNP positions to be known (unlike Ho). Two genomic regions with ROH in over 60% of the animals were found: one on BTA6 (38.6-39.7 Mbps), one on BTA13 (54.3-54.8 Mbps). These may highlight regions where selective pressures have shaped the genome of the Maremmana breed .
- Published
- 2017
47. Application of SNP reduction approaches and random forest for the identification of population informative markers in cosmopolitan and local cattle breeds
- Author
-
Bertolini, F., Galimberti, G., Mastrangelo, S., DI GERLANDO, R., Strillacci, M., Bagnato, A., Portolano, B., L. Fontanesi ., F. Bertolini, G. Galimberti, S. Mastrangelo, R. Di Gerlando, M. G. Strillacci, A. Bagnato, B. Portolano, and L.Fontanesi .
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,SNPs, random forest, cattle breeds - Abstract
In livestock, single nucleotide polymorphism genotyping arrays have been used to differentiate breeds and populations for several downstream applications, including breed allocation of individuals, breeds of origin of crossbred animals, authentication of mono breed products, comparative analyses of selection signatures among several other uses. We already tested a combination of principal component analysis (PCA), used as preselection method, and random forest (RF) used as classification method to assign cosmopolitan Italian breeds with no or very low error rate. In this work, we increased the number of breeds and approaches, to have a more comprehensive view of the strategies available and the applicability to local Italian breeds. The most common cosmopolitan dairy or dual purpose breeds (Holstein, Brown, Simmental) and 3 local breeds subjected to limited or no breeding programs (Reggiana, Modicana and Cinisara) were analyzed comparing several methods of SNPs pre-selection (Delta, Fst and PCA) in addition to RF classifications. From these classifications, two panels of 96 and 48 SNPs that contained the most discriminant SNPs were created for each pre-selection method. The results showed that the 96-SNP panels were generally more able to discriminate all breeds, while for the 48- SNP panels the error rate increased mainly for autochthonous breeds, particularly for Cinisara. This was probably a consequence of limited selection pressure, admixed origin, and ascertain bias on the construction of the SNP chip that was not designed considering these breeds. Several selected SNPs are located nearby genes affecting breed-specific traits (e.g. coat color and stature) or associated to production traits. The 96-SNP panel obtained after a preselection chromosome by chromosome, and used in the previous work with cosmopolitan breeds only, could identify informative SNPs that were particularly useful for the assignment of minor breeds. This panel reached the lowest value of out of bag (OOB) error in the RF test even in the Cinisara, whose value was quite high in all other panels. Moreover, this panel contained also the lowest number of SNPs in linkage disequilibrium. Our results showed the usefulness and power of the combination of PCA pre-selection and RF also for the discrimination of local cattle breeds.
- Published
- 2017
48. Tracking Zebu Introgression in Mediterranean Cattle Breeds
- Author
-
Ajmone Marsan, P., Bahbahani, H., Ciani, E., D'Andrea, M., Decker, J., Gaouar, S., Landi, V., Lucchini, R., Marras, G., Medjugorac, I., Marroni, F., Mastrangelo, S., Nicolazzi, E., Pilla, F., Rocha, D., Simcic, M., Taylor, J., Valentini, A., P. Ajmone Marsan, H. M Bahbahani, E. Ciani, M. D'Andrea, J. E. Decker, S. Gaouar, V. Landi, R. Lucchini, G. Marra, I. Medjugorac, F. Marroni, S. Mastrangelo, E. L. Nicolazzi, F. Pilla, D. Rocha, M. Simcic, J. F. Taylor, and A. Valentini.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,Zebù, SNPs, cattle breeds - Abstract
A recent work investigating genetic origin, admixture and population history of primitive European cattle highlighted, by using genome-wide single nucleotide polymorphisms, zebu gene flow in the Balkan and Italian Podolic cattle populations. Haemoglobin protein polymorphism analysis in Italian breeds highlighted the presence of zebuine markers in both Italian Podolic and Alpine Grey cattle. Based on the above evidences, we here specifically look for genomic regions of zebuine ancestry in a different dataset of 50K genotypes from Mediterranean breeds including 29 Marismena (Spain); 30 Bazadaise and 30 Gasconne (France); 24 Alpine Grey, 97 Piemontese, 51 Chianina, 5 Marchigiana, 121 Romagnola, 24 Podolica, 24 Modenese, 30 Reggiana, 30 Cinisara and 30 Modicana (Italy); 24 Guelmoise (Algeria); 24 Cika (Slovenia), 43 Illyrian Mountain Buša (Albania). Additional taurine and zebuine breeds from previously published studies are also included in the analyses. Special emphasis in genetic analyses is also given to the identification of genomic regions potentially associated with a phenotypic trait observed in several taurine breeds as well as in some zebuine breeds, characterized by calves having a fawn coat at birth, while turning to various shades of grey in adult animals. The obtained results contribute to a better characterization of history and genetic structure of Mediterranean cattle breeds.
- Published
- 2017
49. BOVITA: a first overview on genome-wide genetic diversity of Italian autochthonous cattle breeds
- Author
-
Mastrangelo, S., Ajmone Marsan, P., Bagnato, A., Battaglini, L., Bozzi, R., Carta, A., Catillo, G., Cassandro, M., Casu, S., Ciampolini, R., Ciani, E., Pcrepaldi, P., D’Andrea, M., Di Gerlando, R., Fontanesi, L., Longeri, M., Macciotta, N., Mantovani, R., Marletta, D., Matassino, D., Mele, M., Pagnacco, G., Pieramati, C., Portolano, B., Sarti F Pilla, F., S. Mastrangelo, P. Ajmone Marsan, A. Bagnato, L. Battaglini, R. Bozzi, A. Carta, G. Catillo, M. Cassandro, S. Casu, R. Ciampolini, E. Ciani, P.Crepaldi, M. D’Andrea, R. Di Gerlando, L. Fontanesi, M. Longeri, N.P.P Macciotta, R. Mantovani, D. Marletta, D. Matassino, M. Mele, G. Pagnacco, C. Pieramati, B. Portolano, and F. M. Sarti F. Pilla.
- Subjects
Settore AGR/17 - Zootecnica Generale E Miglioramento Genetico ,SNPs, genetic diversity, local cattle breeds - Abstract
Analysis of genomic data is increasingly becoming part of the livestock industry and is an invaluable resource for effective management of breeding programs in small populations. The recent availability of genome-wide SNP panels allows providing background information concerning genome structure in domestic animals, opening new perspectives to livestock genetics. BOVITA was established to join local efforts and resources for the genomic characterization of Italian local cattle breeds. Despite the growing diffusion of some cosmopolite specialized breeds, several autochthonous breeds are still bred in Italy. The main aim of the BOVITA is to investigate the genomic structure of Italian local cattle breeds, to provide information on their genetic status that will be useful for the management of the genetic variability, as a contribution to biodiversity conservation and prioritization actions. A total of about 800 animals (20-32 per breed) belonging to thirty Italian cattle breeds (Agerolese, Barà-Pustertaler, Burlina, Cabannina, Calvana, Chianina, Cinisara, Garfagnina, Italian Brown, Italian Holstein, Italian Simmental, Marchigiana, Maremmana, Modenese, Modicana, Mucca Pisana, Pezzata Rossa d’Oropa, Piedmontese, Pinzgau, Podolica, Pontremolese, Pustertaler, Reggiana, Rendena, Romagnola, Rossa Siciliana, Sarda, Sardo-Bruna, Sardo-Modicana and Ottonese-Varzese) and two cosmopolitan breeds (Charolaise and Limousine) genotyped with the Illumina BovineSNP50 v2 BeadChip array were collected for the analysis. The genotypes of several breeds were detected in the frame of the project, whereas for some breeds these data are derived by previous studies. The dataset will be analyzed to: study several aspects of population genetic diversity, multi-dimensional scaling plot, population structure, linkage disequilibrium, and runs of homozygosity. In addition, comparative analysis of conserved haplotypes will be conducted to identify genomic segments under selection pressure. Such information also provides important insights into the mechanisms of evolution and is useful for the annotation of significant functional genomics regions. Data analysis will also be useful to select SNPs suitable for parentage test and breed genetic traceability. The analysis of the data will pinpoint the genetic distinctiveness of Italian breeds. Moreover, the obtained results contribute to a better characterization of history and genetic structure of Italian cattle breeds.
- Published
- 2017
50. Preselection statistics and Random Forest classification identify population informative single nucleotide polymorphisms in cosmopolitan and autochthonous cattle breeds
- Author
-
Bertolini, F., primary, Galimberti, G., additional, Schiavo, G., additional, Mastrangelo, S., additional, Di Gerlando, R., additional, Strillacci, M.G., additional, Bagnato, A., additional, Portolano, B., additional, and Fontanesi, L., additional
- Published
- 2018
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.