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Nicola Bartolomeo
Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, 70124 Bari, Italy

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Journal article
Published: 15 June 2021 in International Journal of Environmental Research and Public Health
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A case-control study was conducted to investigate the effectiveness of the Edueat® Method, through experiential workshops focused on the use of all 5 senses. In two different primary schools in the same city, questionnaires were administered in two months with a follow-up one year later. Participants: 119 children (age 8.2–9.0) chosen randomly; control group 66 (55.5%). Seven lessons of 2 h each were held in the schools by experts of the Edueat® method and seven extra lessons by the teachers. The main outcome measures were the children’s changes in their approach and attitude towards their eating habits. The answers were grouped with factor analysis and summarized through scores. Repeated-measures analysis of variance was conducted in order to identify the relationships between scores and treatment over time. At the end of treatment, the intervention group showed a significant appreciation towards healthy foods (+4.15 vs. −0.05, p = 0.02) and a greater capacity in identifying foods which are very good for the health (+15.6 vs. +14.4, p = 0.02). In conclusion, the Edueat® method was found to be particularly promising in transmitting knowledge of those foods which are healthy. Greater involvement of teachers and parents is crucial.

ACS Style

Domenico Meleleo; Giovanna Susca; Valentina Andrulli Buccheri; Giovanna Lamanna; Liliana Cassano; Valeria De Chirico; Sergio Mustica; Margherita Caroli; Nicola Bartolomeo. Effectiveness of an Innovative Sensory Approach to Improve Children’s Nutritional Choices. International Journal of Environmental Research and Public Health 2021, 18, 6462 .

AMA Style

Domenico Meleleo, Giovanna Susca, Valentina Andrulli Buccheri, Giovanna Lamanna, Liliana Cassano, Valeria De Chirico, Sergio Mustica, Margherita Caroli, Nicola Bartolomeo. Effectiveness of an Innovative Sensory Approach to Improve Children’s Nutritional Choices. International Journal of Environmental Research and Public Health. 2021; 18 (12):6462.

Chicago/Turabian Style

Domenico Meleleo; Giovanna Susca; Valentina Andrulli Buccheri; Giovanna Lamanna; Liliana Cassano; Valeria De Chirico; Sergio Mustica; Margherita Caroli; Nicola Bartolomeo. 2021. "Effectiveness of an Innovative Sensory Approach to Improve Children’s Nutritional Choices." International Journal of Environmental Research and Public Health 18, no. 12: 6462.

Journal article
Published: 21 May 2021 in Sustainability
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The COVID-19 incidence in 61 manufacturing plants in Europe (EU), North America (NA) and Latin-America (LATAM) was compared with the incidence observed in the countries where the plants are located in order to evaluate the application of an innovative model for COVID-19 risk management. Firstly, a network of local and global teams was created, including an external university occupational physician team for scientific support. In July 2020, global prevention guidelines for the homogenous management of the pandemic were applied, replacing different site or regional procedures. A tool for COVID-19 monitoring was implemented to investigate the relationship between the incidence rates inside and outside the plants. In the period of May–November 2020, 565 confirmed cases (EU 330, NA 141, LATAM 94) were observed among 20,646 workers with different jobs and tasks, and in the last two months 85% EU and 70% NA cases were recorded. Only in 10% of cases was a possible internal origin of the contagion not excluded. In the EU and NA, unlike LATAM, the COVID-19 incidence rates inside the sites punctually followed the rising trend outside. In conclusion, the model, combining a global approach with the local application of the measures, maintains the sustainability in the manufacturing industry.

ACS Style

Piero Lovreglio; Angela Stufano; Francesco Cagnazzo; Nicola Bartolomeo; Ivo Iavicoli. Application of an Innovative Model for the Risk Management of COVID-19 in a Multinational Manufacturing Company. Sustainability 2021, 13, 5771 .

AMA Style

Piero Lovreglio, Angela Stufano, Francesco Cagnazzo, Nicola Bartolomeo, Ivo Iavicoli. Application of an Innovative Model for the Risk Management of COVID-19 in a Multinational Manufacturing Company. Sustainability. 2021; 13 (11):5771.

Chicago/Turabian Style

Piero Lovreglio; Angela Stufano; Francesco Cagnazzo; Nicola Bartolomeo; Ivo Iavicoli. 2021. "Application of an Innovative Model for the Risk Management of COVID-19 in a Multinational Manufacturing Company." Sustainability 13, no. 11: 5771.

Journal article
Published: 27 April 2021 in Environmental Research
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Short-term exposure to air pollution, as well as to climate variables have been linked to a higher incidence of respiratory viral diseases. The study aims to assess the short-term influence of air pollution and climate on COVID19 incidence in Lombardy (Italy), during the early stage of the outbreak, before the implementation of the lockdown measures. The daily number of COVID19 cases in Lombardy from February 25th to March 10th, 2020, and the daily average concentrations up to 15 days before the study period of particulate matter (PM10, PM2.5), O3, SO2, and NO2 together with climate variables (temperature, relative humidity – RH%, wind speed, precipitation), were analyzed. A univariable mixed model with a logarithm transformation as link function was applied for each day, from 15 days (lag15) to one day (lag1) before the day of detected cases, to evaluate the effect of each variable. Additionally, change points (Break Points-BP) in the relationship between incident cases and air pollution or climatic factors were estimated. The results did not show a univocal relationship between air quality or climate factors and COVID19 incidence. PM10, PM2.5 and O3 concentrations in the last lags seem to be related to an increased COVID19 incidence, probably due to an increased susceptibility of the host. In addition, low temperature and low wind speed in some lags resulted associated with increased daily COVID19 incidence. The findings observed suggest that these factors, in particular conditions and lags, may increase individual susceptibility to the development of viral infections such as SARS-CoV-2.

ACS Style

Angela Stufano; Stefania Lisco; Nicola Bartolomeo; Antonella Marsico; Guglielmo Lucchese; Hamidreza Jahantigh; Leonardo Soleo; Massimo Moretti; Paolo Trerotoli; Giuseppe De Palma; Piero Lovreglio. COVID19 outbreak in Lombardy, Italy: An analysis on the short-term relationship between air pollution, climatic factors and the susceptibility to SARS-CoV-2 infection. Environmental Research 2021, 198, 111197 -111197.

AMA Style

Angela Stufano, Stefania Lisco, Nicola Bartolomeo, Antonella Marsico, Guglielmo Lucchese, Hamidreza Jahantigh, Leonardo Soleo, Massimo Moretti, Paolo Trerotoli, Giuseppe De Palma, Piero Lovreglio. COVID19 outbreak in Lombardy, Italy: An analysis on the short-term relationship between air pollution, climatic factors and the susceptibility to SARS-CoV-2 infection. Environmental Research. 2021; 198 ():111197-111197.

Chicago/Turabian Style

Angela Stufano; Stefania Lisco; Nicola Bartolomeo; Antonella Marsico; Guglielmo Lucchese; Hamidreza Jahantigh; Leonardo Soleo; Massimo Moretti; Paolo Trerotoli; Giuseppe De Palma; Piero Lovreglio. 2021. "COVID19 outbreak in Lombardy, Italy: An analysis on the short-term relationship between air pollution, climatic factors and the susceptibility to SARS-CoV-2 infection." Environmental Research 198, no. : 111197-111197.

Journal article
Published: 26 January 2021 in Cancers
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Aims: It is debated whether the NRAS-mutant melanoma is more aggressive than NRAS wildtype. It is equally controversial whether NRAS-mutant metastatic melanoma (MM) is more responsive to checkpoint inhibitor immunotherapy (CII). 331 patients treated with CII as first-line were retrospectively recruited: 162 NRAS-mutant/BRAF wild-type (mut/wt) and 169 wt/wt. We compared the two cohorts regarding the characteristics of primary and metastatic disease, disease-free interval (DFI) and outcome to CII. No substantial differences were observed between the two groups at melanoma onset, except for a more frequent ulceration in the wt/wt group (p = 0.03). Also, the DFI was very similar in the two cohorts. In advanced disease, we only found lung and brain progression more frequent in the wt/wt group. Regarding the outcomes to CII, no significant differences were reported in overall response rate (ORR), disease control rate (DCR), progression free survival (PFS) or overall survival (OS) (42% versus 37%, 60% versus 59%, 12 (95% CI, 7–18) versus 9 months (95% CI, 6–16) and 32 (95% CI, 23–49) versus 27 months (95% CI, 16–35), respectively). Irrespectively of mutational status, a longer OS was significantly associated with normal LDH, <3 metastatic sites, lower white blood cell and platelet count, lower neutrophil-to-lymphocyte (N/L) ratio. Our data do not show increased aggressiveness and higher responsiveness to CII in NRAS-mutant MM.

ACS Style

Michele Guida; Nicola Bartolomeo; Pietro Quaglino; Gabriele Madonna; Jacopo Pigozzo; Anna Di Giacomo; Alessandro Minisini; Marco Tucci; Francesco Spagnolo; Marcella Occelli; Laura Ridolfi; Paola Queirolo; Ivana De Risi; Davide Quaresmini; Elisabetta Gambale; Vanna Chiaron Sileni; Paolo Ascierto; Lucia Stigliano; Sabino Strippoli; on behalf of the Italian Melanoma Intergroup (IMI) Study. No Impact of NRAS Mutation on Features of Primary and Metastatic Melanoma or on Outcomes of Checkpoint Inhibitor Immunotherapy: An Italian Melanoma Intergroup (IMI) Study. Cancers 2021, 13, 475 .

AMA Style

Michele Guida, Nicola Bartolomeo, Pietro Quaglino, Gabriele Madonna, Jacopo Pigozzo, Anna Di Giacomo, Alessandro Minisini, Marco Tucci, Francesco Spagnolo, Marcella Occelli, Laura Ridolfi, Paola Queirolo, Ivana De Risi, Davide Quaresmini, Elisabetta Gambale, Vanna Chiaron Sileni, Paolo Ascierto, Lucia Stigliano, Sabino Strippoli, on behalf of the Italian Melanoma Intergroup (IMI) Study. No Impact of NRAS Mutation on Features of Primary and Metastatic Melanoma or on Outcomes of Checkpoint Inhibitor Immunotherapy: An Italian Melanoma Intergroup (IMI) Study. Cancers. 2021; 13 (3):475.

Chicago/Turabian Style

Michele Guida; Nicola Bartolomeo; Pietro Quaglino; Gabriele Madonna; Jacopo Pigozzo; Anna Di Giacomo; Alessandro Minisini; Marco Tucci; Francesco Spagnolo; Marcella Occelli; Laura Ridolfi; Paola Queirolo; Ivana De Risi; Davide Quaresmini; Elisabetta Gambale; Vanna Chiaron Sileni; Paolo Ascierto; Lucia Stigliano; Sabino Strippoli; on behalf of the Italian Melanoma Intergroup (IMI) Study. 2021. "No Impact of NRAS Mutation on Features of Primary and Metastatic Melanoma or on Outcomes of Checkpoint Inhibitor Immunotherapy: An Italian Melanoma Intergroup (IMI) Study." Cancers 13, no. 3: 475.

Journal article
Published: 30 December 2020 in Infectious Disease Modelling
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To estimate the size of the novel coronavirus (COVID-19) outbreak in the early stage in Italy, this paper introduces the cumulated and weighted average daily growth rate (WR) to evaluate an epidemic curve. On the basis of an exponential decay model (EDM), we provide estimations of the WR in four-time intervals from February 27 to April 07, 2020. By calibrating the parameters of the EDM to the reported data in Hubei Province of China, we also attempt to forecast the evolution of the outbreak. We compare the EDM applied to WR and the Gompertz model, which is based on exponential decay and is often used to estimate cumulative events. Specifically, we assess the performance of each model to short-term forecast of the epidemic, and to predict the final epidemic size. Based on the official counts for confirmed cases, the model applied to data from February 27 until the 17th of March estimate that the cumulative number of infected in Italy could reach 131,280 (with a credibility interval 71,415-263,501) by April 25 (credibility interval April 12 to May 3). With the data available until the 24st of March the peak date should be reached on May 3 (April 23 to May 23) with 197,179 cumulative infections expected (130,033–315,269); with data available until the 31st of March the peak should be reached on May 4 (April 25 to May 18) with 202,210 cumulative infections expected (155.235–270,737); with data available until the 07st of April the peak should be reached on May 3 (April 26 to May 11) with 191,586 (160,861-232,023) cumulative infections expected. Based on the average mean absolute percentage error (MAPE), cumulated infections forecasts provided by the EDM applied to WR performed better across all scenarios than the Gompertz model. An exponential decay model applied to the cumulated and weighted average daily growth rate appears to be useful in estimating the number of cases and peak of the COVID-19 outbreak in Italy and the model was more reliable in the exponential growth phase.

ACS Style

Nicola Bartolomeo; Paolo Trerotoli; Gabriella Serio. Short-term forecast in the early stage of the COVID-19 outbreak in Italy. Application of a weighted and cumulative average daily growth rate to an exponential decay model. Infectious Disease Modelling 2020, 6, 212 -221.

AMA Style

Nicola Bartolomeo, Paolo Trerotoli, Gabriella Serio. Short-term forecast in the early stage of the COVID-19 outbreak in Italy. Application of a weighted and cumulative average daily growth rate to an exponential decay model. Infectious Disease Modelling. 2020; 6 ():212-221.

Chicago/Turabian Style

Nicola Bartolomeo; Paolo Trerotoli; Gabriella Serio. 2020. "Short-term forecast in the early stage of the COVID-19 outbreak in Italy. Application of a weighted and cumulative average daily growth rate to an exponential decay model." Infectious Disease Modelling 6, no. : 212-221.

Research paper
Published: 12 November 2020 in International Journal of Environmental Research
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The association between environmental conditions and pregnancy outcome has been under investigation for a long time, but results appear to be inconclusive regarding damage to either the newborn or the mother. The aim of this study was to evaluate the distribution of hospitalization of newborns with low birthweight (< 2500 g) and extremely low birthweight (< 1000 g) in the geographical area of Taranto, Italy, which is characterized by high environmental risk because of industrial pollution. We analyzed the database of hospital discharge forms for the years 2001–2013 regarding hospital admission of newborns in the region of Apulia. The relative risk (RR) of hospitalization, adjusted for the deprivation index, was estimated using the Besag–York–Molliè Bayesian model. The city of Taranto, which has the highest environmental risk, had the highest RR for newborns with low birthweight (1.47, 95% uncertainty interval 1.38–1.56). Other geographical areas with high environmental pollution had higher RRs for low birth weight compared with the regional average. We found no geographical distribution pattern of extremely low birthweight that would suggest an association with environmental pollution.

ACS Style

Paolo Trerotoli; Nicola Bartolomeo; Simona Leogrande; Sabrina Triggiani; Antonella Mincuzzi; Gabriella Serio; Aldo Sante Minerba. Survey of Low Birthweight and Extremely Low Birthweight Events in a High Environmental Risk Area of Apulia, Italy. International Journal of Environmental Research 2020, 15, 11 -17.

AMA Style

Paolo Trerotoli, Nicola Bartolomeo, Simona Leogrande, Sabrina Triggiani, Antonella Mincuzzi, Gabriella Serio, Aldo Sante Minerba. Survey of Low Birthweight and Extremely Low Birthweight Events in a High Environmental Risk Area of Apulia, Italy. International Journal of Environmental Research. 2020; 15 (1):11-17.

Chicago/Turabian Style

Paolo Trerotoli; Nicola Bartolomeo; Simona Leogrande; Sabrina Triggiani; Antonella Mincuzzi; Gabriella Serio; Aldo Sante Minerba. 2020. "Survey of Low Birthweight and Extremely Low Birthweight Events in a High Environmental Risk Area of Apulia, Italy." International Journal of Environmental Research 15, no. 1: 11-17.

Journal article
Published: 24 September 2020 in Pathogens
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Since the last decade, attention towards the occurrence of fungi in potable water has increased. Commensal and saprophytic microorganisms widely distributed in nature are also responsible for causing public health problems. Fungi can contaminate hospital environments, surviving and proliferating in moist and unsterile conditions. According to Italian regulations, the absence of fungi is not a mandatory parameter to define potable water, as a threshold value for the fungal occurrence has not been defined. This study evaluated the occurrence of fungi in potable water distribution systems in hospitals. The frequency of samples positive for the presence of fungi was 56.9%; among them, filamentous fungi and yeasts were isolated from 94.2% and 9.2% of the samples, respectively. The intensive care unit (87.1%) had the highest frequency of positive samples. Multivariable model (p < 0.0001), the variables of the period of the year (p < 0.0001) and type of department (p = 0.0002) were found to be statistically significant, suggesting a high distribution of filamentous fungi in the potable water of hospitals. Further studies are necessary to validate these results and identify the threshold values of fungi levels for different types of water used for various purposes to ensure the water is safe for consumption and protect public health.

ACS Style

Giuseppina Caggiano; Giusy Diella; Francesco Triggiano; Nicola Bartolomeo; Francesca Apollonio; Carmen Campanale; Marco Lopuzzo; Maria Teresa Montagna. Occurrence of Fungi in the Potable Water of Hospitals: A Public Health Threat. Pathogens 2020, 9, 783 .

AMA Style

Giuseppina Caggiano, Giusy Diella, Francesco Triggiano, Nicola Bartolomeo, Francesca Apollonio, Carmen Campanale, Marco Lopuzzo, Maria Teresa Montagna. Occurrence of Fungi in the Potable Water of Hospitals: A Public Health Threat. Pathogens. 2020; 9 (10):783.

Chicago/Turabian Style

Giuseppina Caggiano; Giusy Diella; Francesco Triggiano; Nicola Bartolomeo; Francesca Apollonio; Carmen Campanale; Marco Lopuzzo; Maria Teresa Montagna. 2020. "Occurrence of Fungi in the Potable Water of Hospitals: A Public Health Threat." Pathogens 9, no. 10: 783.

Journal article
Published: 01 September 2020 in Journal of Dairy Science
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It is known that heat stress affects dairy cow performance in multiple ways: physiological, behavioral, reproductive, and productive. The aim of the present study was to determine if a threshold of temperature-humidity index (THI) exists for multiple milk production traits (milk yield, fat-corrected milk, protein and fat yield and percentage, energy-corrected milk, cheese production, and cheese yield) in Italian Brown Swiss dairy cows from the period 15 d before the day of the Italian Breeders Association test-day sampling. A 10-yr data set (2009-2018) containing 202,776 test-day records of 23,296 Brown Swiss cows was matched with the maximum THI. In all parities considered, no THI thresholds were observed for milk yield in Brown Swiss. In contrast, a THI threshold of 75 was identified for fat-corrected milk. No THI threshold was found for fat percentage, but fat yield showed the highest THI thresholds in cows of first and second parity. Protein yield and cheese production were affected by heat stress with average THI threshold of 74. The THI thresholds identified indicate that the Brown Swiss breed has higher thermal tolerance versus literature values reported for Holstein cows. As THI rises, Brown Swiss cows tend to produce the same volume of milk, but with a decreasing quality with regard to components. Further study is necessary to estimate the genetic component of heat tolerance, in Brown Swiss cattle, considering that the correct estimation of THI thresholds represents the first step to identify components that could be included in selection procedures.

ACS Style

A. Maggiolino; G.E. Dahl; N. Bartolomeo; U. Bernabucci; A. Vitali; G. Serio; M. Cassandro; G. Centoducati; E. Santus; P. De Palo. Estimation of maximum thermo-hygrometric index thresholds affecting milk production in Italian Brown Swiss cattle. Journal of Dairy Science 2020, 103, 8541 -8553.

AMA Style

A. Maggiolino, G.E. Dahl, N. Bartolomeo, U. Bernabucci, A. Vitali, G. Serio, M. Cassandro, G. Centoducati, E. Santus, P. De Palo. Estimation of maximum thermo-hygrometric index thresholds affecting milk production in Italian Brown Swiss cattle. Journal of Dairy Science. 2020; 103 (9):8541-8553.

Chicago/Turabian Style

A. Maggiolino; G.E. Dahl; N. Bartolomeo; U. Bernabucci; A. Vitali; G. Serio; M. Cassandro; G. Centoducati; E. Santus; P. De Palo. 2020. "Estimation of maximum thermo-hygrometric index thresholds affecting milk production in Italian Brown Swiss cattle." Journal of Dairy Science 103, no. 9: 8541-8553.

Other
Published: 23 May 2020
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To estimate the size of the novel coronavirus (COVID-19) outbreak in Italy, this paper introduces the cumulated and weighted average daily growth rate (WR) to evaluate an epidemic curve, On the basis of an exponential decay model (EDM), we provide estimations of the WR in four-time intervals from February 27 to April 07, 2020. By calibrating the parameters of the EDM to the reported data in Hubei Province of China, we also attempt to forecast the evolution of the outbreak. We compare the EDM applied to WR and the Gompertz model, which is based on exponential decay and is often used to estimate cumulative events. Specifically, we assess the performance of each model to short-term forecast of the epidemic, and to predict the final epidemic size. Based on the official counts for confirmed cases, the model applied to data from February 27 until the 17st of March estimate that the cumulative number of infected could reach 131,280 (with a credibility interval 71,415-263,501) by April 25 (credibility interval April 12 to May 3). With the data available until the 24st of March the peak date should be reached on May 3 (April 23 to May 23) with 197,179 cumulative infections expected (130033-315,269); with data available until the 31st of March the peak should be reached on May 4 (April 25 to May 18) with 202,210 cumulative infections expected (155.235-270,737); with data available until the 07st of April the peak should be reached on May 3 (April 26 to May 11) with 191,586 (160,861-232,023) cumulative infections expected. Based on the average mean absolute percentage error (MAPE), cumulated infections forecasts provided by the EDM applied to WR performed better across all scenarios than the Gompertz model. An exponential decay model applied to the cumulated and weighted average daily growth rate appears to be useful in estimating the number of cases and peak of the COVID-19 outbreak in Italy and the model was more reliable in the exponential growth phase.

ACS Style

Nicola Bartolomeo; Paolo Trerotoli; Gabriella Serio. Estimating the size of the COVID-19 outbreak in Italy: Application of an exponential decay model to the weighted and cumulative average daily growth rate. 2020, 1 .

AMA Style

Nicola Bartolomeo, Paolo Trerotoli, Gabriella Serio. Estimating the size of the COVID-19 outbreak in Italy: Application of an exponential decay model to the weighted and cumulative average daily growth rate. . 2020; ():1.

Chicago/Turabian Style

Nicola Bartolomeo; Paolo Trerotoli; Gabriella Serio. 2020. "Estimating the size of the COVID-19 outbreak in Italy: Application of an exponential decay model to the weighted and cumulative average daily growth rate." , no. : 1.

Journal article
Published: 08 April 2020 in International Journal of Environmental Research and Public Health
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The “Love Food, Not Waste” project was conducted to train students on good food choices and evaluate food waste in school canteens. Teachers, parents and students were surveyed before and after training. Weights of both the served and wasted food were recorded for one week both before the educational intervention in February 2019 and after the educational intervention in March 2019, using the same menu. Students completed a food satisfaction questionnaire on the days the data were collected. For the first dish, the mean wastes per school were 1199 g before training and 1054 g after training. For the second dish, the mean wastes per school were 246 g before training and 220 g after training. For the side course, the means wastes per school were 663 g before training and 747 g after training. The results did not significantly differ among weeks or schools. Less food was wasted when boys judged the food’s general aspects like smell, taste and appearance as positive; more food was wasted when girls judged these factors as negative. Food waste monitoring is mandatory but does not always occur. Analyzing food waste relative to students’ food perceptions can help determine whether educational interventions can help reduce waste. Students’ satisfaction must also be considered.

ACS Style

Nicoletta Favuzzi; Paolo Trerotoli; Maria Grazia Forte; Nicola Bartolomeo; Gabriella Serio; Domenico Lagravinese; Francesco Vino. Evaluation of an Alimentary Education Intervention on School Canteen Waste at a Primary School in Bari, Italy. International Journal of Environmental Research and Public Health 2020, 17, 2558 .

AMA Style

Nicoletta Favuzzi, Paolo Trerotoli, Maria Grazia Forte, Nicola Bartolomeo, Gabriella Serio, Domenico Lagravinese, Francesco Vino. Evaluation of an Alimentary Education Intervention on School Canteen Waste at a Primary School in Bari, Italy. International Journal of Environmental Research and Public Health. 2020; 17 (7):2558.

Chicago/Turabian Style

Nicoletta Favuzzi; Paolo Trerotoli; Maria Grazia Forte; Nicola Bartolomeo; Gabriella Serio; Domenico Lagravinese; Francesco Vino. 2020. "Evaluation of an Alimentary Education Intervention on School Canteen Waste at a Primary School in Bari, Italy." International Journal of Environmental Research and Public Health 17, no. 7: 2558.

Journal article
Published: 22 January 2020 in International Journal of Molecular Sciences
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Background: With the advent of next-generation sequencing in genetic testing, predicting the pathogenicity of missense variants represents a major challenge potentially leading to misdiagnoses in the clinical setting. In neurofibromatosis type 1 (NF1), where clinical criteria for diagnosis may not be fully present until late infancy, correct assessment of variant pathogenicity is fundamental for appropriate patients’ management. Methods: Here, we analyzed three different computational methods, VEST3, REVEL and ClinPred, and after extracting predictions scores for 1585 NF1 missense variants listed in ClinVar, evaluated their performances and the score distribution throughout the neurofibromin protein. Results: For all the three methods, no significant differences were present between the scores of “likely benign”, “benign”, and “likely pathogenic”, “pathogenic” variants that were consequently collapsed into a single category. The cutoff values for pathogenicity were significantly different for the three methods and among benign and pathogenic variants for all methods. After training five different models with a subset of benign and pathogenic variants, we could reclassify variants in three sharply separated categories. Conclusions: The recently developed metapredictors, which integrate information from multiple components, after gene-specific fine-tuning, could represent useful tools for variant interpretation, particularly in genetic diseases where a clinical diagnosis can be difficult.

ACS Style

Matteo Accetturo; Nicola Bartolomeo; Alessandro Stella. In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification. International Journal of Molecular Sciences 2020, 21, 721 .

AMA Style

Matteo Accetturo, Nicola Bartolomeo, Alessandro Stella. In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification. International Journal of Molecular Sciences. 2020; 21 (3):721.

Chicago/Turabian Style

Matteo Accetturo; Nicola Bartolomeo; Alessandro Stella. 2020. "In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification." International Journal of Molecular Sciences 21, no. 3: 721.

Original article
Published: 01 November 2019 in Clinical Endocrinology
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Background Clomiphene citrate (CC) has been shown to restore the hypothalamic pituitary‐gonadal (HPG) axis by increasing testosterone (T) levels to physiological levels in patients with dysmetabolic conditions such as obesity, metabolic syndrome and type 2 diabetes mellitus (T2DM). However, the data are unclear regarding the effects on Sertoli cell (SC) function. Aim To study SC function by assessing Inhibin B (IB) and Anti‐Mullerian Hormone (AMH) levels at baseline and after 3 month of CC treatment. Materials and methods This is an ancillary study of a cross‐over, randomised, double‐blind, placebo‐controlled trial performed to evaluate androgen response to CC treatment in dysmetabolic obese subjects with low T levels treated with metformin. We evaluated SC function by assessing IB and AMH levels at baseline and after three months of each treatment in ten dysmetabolic obese subjects with low T levels. In all subjects,the influence of the clinical characteristics, metabolic and hormonal baseline parameters on SC and Leydig (LC) function, evaluated respectively with AMH, IB, FSH and T levels, were tested. Results No significant changes were observed for IB and AMH concentrations after each treatment period. Whereas T and estradiol (E2) levels were shown to be significantly higher in the CC plus metformin phase (CC/Met) only. No clinical, metabolic or hormonal parameters showed significant effects on serum AMH at baseline or after treatments. However, baseline T, dihydrotestosterone (DHT) andE2 positively affected IB levels during CC/Met therapy (P=0.003, P=0.038 and P=0.049 respectively). Baseline leptin, and FSH had a negative (P=0,031) and positive (P=0.048) respectively role on T levels during CC/Met, as they were statistically significant compared to the placebo period (Plac/Met). Conclusion Unlike the LC activity, CC was unable to influence SC function, as shown by the lack of IB and AMH serum modifications, thus suggesting an intrinsic non‐reversible defect of SC cells in patients with dysmetabolic conditions.

ACS Style

Carla Pelusi; Flaminia Fanelli; Margherita Baccini; Vincenzo Triggiani; Nicola Bartolomeo; Matteo Domenico Carbone; Giovanni De Pergola; Guido Di Dalmazi; Uberto Pagotto; Renato Pasquali; Vito Angelo Giagulli. Effect of clomiphene citrate treatment on the Sertoli cells of dysmetabolic obese men with low testosterone levels. Clinical Endocrinology 2019, 92, 38 -45.

AMA Style

Carla Pelusi, Flaminia Fanelli, Margherita Baccini, Vincenzo Triggiani, Nicola Bartolomeo, Matteo Domenico Carbone, Giovanni De Pergola, Guido Di Dalmazi, Uberto Pagotto, Renato Pasquali, Vito Angelo Giagulli. Effect of clomiphene citrate treatment on the Sertoli cells of dysmetabolic obese men with low testosterone levels. Clinical Endocrinology. 2019; 92 (1):38-45.

Chicago/Turabian Style

Carla Pelusi; Flaminia Fanelli; Margherita Baccini; Vincenzo Triggiani; Nicola Bartolomeo; Matteo Domenico Carbone; Giovanni De Pergola; Guido Di Dalmazi; Uberto Pagotto; Renato Pasquali; Vito Angelo Giagulli. 2019. "Effect of clomiphene citrate treatment on the Sertoli cells of dysmetabolic obese men with low testosterone levels." Clinical Endocrinology 92, no. 1: 38-45.

Communication
Published: 14 October 2019 in Cancers
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Background: A limited degree of progression after a response to treatment is labelled as oligoprogression and is a hot topic of metastatic melanoma (MM) management. Rogue progressive metastases could benefit from local treatment, which could allow the continuation of ongoing systemic therapy, also known as treatment beyond progression (TBP). Methods: We retrospectively reviewed 214 selected MM patients who developed oligoprogression during treatment with v-Raf murine sarcoma viral oncogene homolog B (BRAF)/mitogen-activated-extracellular signal-regulated kinase (MEK) or programmed cell death protein 1 (PD-1) inhibitors and received a local treatment continuing TBP. We performed univariate and multivariable analyses to assess the association between therapy outcomes and a series of clinical and biological features. Results: We identified 27 (10%) oligoprogressed patients treated locally with surgery (14), radiosurgery (11), and electrochemotherapy (2). TBP included PD-1 inhibitors (13) and BRAF/MEK inhibitors (14). The median progression-free survival post oligoprogression (PFSPO) was 14 months (5-19 95% confidence interval (C.I.)). In the univariate analysis, a significantly longer PFSPO was associated with complete response (CR), Eastern Cooperative Oncology Group (ECOG) performance status (PS) of 0, neutrophils/lymphocytes ratio (N/L) 11 months. Nevertheless, in the multivariable analysis, only CR and N/L <2 were found to be associated with longer PFSPO. Conclusions: In selected patients, local treatments contribute to controlling oligoprogression for a long time, allowing the continuation of systemic treatment and prolongation of overall survival (OS). Increasing biological and clinical knowledge is improving the accuracy in identifying patients to apply for local ablative therapies.

ACS Style

Michele Guida; Nicola Bartolomeo; Ivana De Risi; Livia Fucci; Andrea Armenio; Ruggero Filannino; Eustachio Ruggieri; Francesco Macina; Michele Traversa; Annalisa Nardone; Francesco Figliuolo; Federica De Luca; Fabio Mele; Stefania Tommasi; Sabino Strippoli. The Management of Oligoprogression in the Landscape of New Therapies for Metastatic Melanoma. Cancers 2019, 11, 1559 .

AMA Style

Michele Guida, Nicola Bartolomeo, Ivana De Risi, Livia Fucci, Andrea Armenio, Ruggero Filannino, Eustachio Ruggieri, Francesco Macina, Michele Traversa, Annalisa Nardone, Francesco Figliuolo, Federica De Luca, Fabio Mele, Stefania Tommasi, Sabino Strippoli. The Management of Oligoprogression in the Landscape of New Therapies for Metastatic Melanoma. Cancers. 2019; 11 (10):1559.

Chicago/Turabian Style

Michele Guida; Nicola Bartolomeo; Ivana De Risi; Livia Fucci; Andrea Armenio; Ruggero Filannino; Eustachio Ruggieri; Francesco Macina; Michele Traversa; Annalisa Nardone; Francesco Figliuolo; Federica De Luca; Fabio Mele; Stefania Tommasi; Sabino Strippoli. 2019. "The Management of Oligoprogression in the Landscape of New Therapies for Metastatic Melanoma." Cancers 11, no. 10: 1559.

Article
Published: 01 September 2019 in Critical Care Medicine
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Quantification of potential for lung recruitment may guide the ventilatory strategy in acute respiratory distress syndrome. However, there are no quantitative data on recruitability in patients with severe acute respiratory distress syndrome who require extracorporeal membrane oxygenation. We sought to quantify potential for lung recruitment and its relationship with outcomes in this cohort of patients. A single-center, retrospective, observational cohort study. Tertiary referral severe respiratory failure center in a university hospital in the United Kingdom. Forty-seven adults with severe acute respiratory distress syndrome requiring extracorporeal membrane oxygenation. None. In patients with severe acute respiratory distress syndrome—mainly of pulmonary origin (86%)—the potential for lung recruitment and the weight of nonaerated, poorly aerated, normally aerated, and hyperaerated lung tissue were assessed at low (5 cmH2O) and high (45 cmH2O) airway pressures. Patients were categorized as high or low potential for lung recruitment based on the median potential for lung recruitment value of the study population. The median potential for lung recruitment was 24.3% (interquartile range = 11.4–37%) ranging from –2% to 76.3% of the total lung weight. Patients with potential for lung recruitment above the median had significantly shorter extracorporeal membrane oxygenation duration (8 vs 13 d; p = 0.013) and shorter ICU stay (15 vs 22 d; p = 0.028), but mortality was not statistically different (24% vs 46%; p = 0.159). We observed significant variability in potential for lung recruitment in patients with severe acute respiratory distress syndrome requiring extracorporeal membrane oxygenation. Patients with high potential for lung recruitment had a shorter ICU stay and shorter extracorporeal membrane oxygenation duration.

ACS Style

Luigi Camporota; Elena V. Caricola; Nicola Bartolomeo; Rossella Di Mussi; Duncan L. A. Wyncoll; Christopher I. S. Meadows; Laura Amado-Rodriguez; Francesco Vasques; Barnaby Sanderson; Guy W. Glover; Nicholas A. Barrett; Manu Shankar-Hari; Salvatore Grasso. Lung Recruitability in Severe Acute Respiratory Distress Syndrome Requiring Extracorporeal Membrane Oxygenation. Critical Care Medicine 2019, 47, 1177 -1183.

AMA Style

Luigi Camporota, Elena V. Caricola, Nicola Bartolomeo, Rossella Di Mussi, Duncan L. A. Wyncoll, Christopher I. S. Meadows, Laura Amado-Rodriguez, Francesco Vasques, Barnaby Sanderson, Guy W. Glover, Nicholas A. Barrett, Manu Shankar-Hari, Salvatore Grasso. Lung Recruitability in Severe Acute Respiratory Distress Syndrome Requiring Extracorporeal Membrane Oxygenation. Critical Care Medicine. 2019; 47 (9):1177-1183.

Chicago/Turabian Style

Luigi Camporota; Elena V. Caricola; Nicola Bartolomeo; Rossella Di Mussi; Duncan L. A. Wyncoll; Christopher I. S. Meadows; Laura Amado-Rodriguez; Francesco Vasques; Barnaby Sanderson; Guy W. Glover; Nicholas A. Barrett; Manu Shankar-Hari; Salvatore Grasso. 2019. "Lung Recruitability in Severe Acute Respiratory Distress Syndrome Requiring Extracorporeal Membrane Oxygenation." Critical Care Medicine 47, no. 9: 1177-1183.

Journal article
Published: 29 May 2019 in International Journal of Environmental Research and Public Health
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Nosocomial infections cause significant morbidity and mortality worldwide, and the pathogenic organisms responsible for such infections can develop resistance to antimicrobial agents. Understanding the activity of disinfectants against clinical and environmental bacterial isolates is therefore crucial. We analysed the in vitro activity of five antimicrobial products (phenolic compounds, didecyldimethylammonium chloride (DDAC), sodium hypochlorite, isopropanol + ammonium compounds (IACs), hydrogen peroxide) against 187 bacterial strains comprising clinical isolates, as well as 30 environmental isolates of Pseudomonas aeruginosa from hospital water samples. Disk diffusion assays were employed to assess antimicrobial activity. Hydrogen peroxide was significantly more active (p < 0.0001) than the other disinfectants against all P. aeruginosa, Klebsiella pneumoniae, Enterococcus faecalis and Staphylococcus aureus strains. It was also the only disinfectant with activity against both clinical and environmental strains of P. aeruginosa. DDAC and IAC-based disinfectants were ineffective against Gram-negative strains, but showed significant activity (particularly IACs, p < 0.0001) against the Gram-positive strains. Compared with IACs, DDAC was significantly more active on E. faecalis and less active on S. aureus (p < 0.0001). Sodium hypochlorite and phenol compounds, by contrast, were inactive against all bacterial strains. The development of disinfection procedures that are effective against all microorganisms is essential for limiting the spread of nosocomial infections.

ACS Style

Maria Teresa Montagna; Francesco Triggiano; Giovanna Barbuti; Nicola Bartolomeo; Osvalda De Giglio; Giusy Diella; Marco Lopuzzo; Serafina Rutigliano; Gabriella Serio; Giuseppina Caggiano. Study on the In Vitro Activity of Five Disinfectants against Nosocomial Bacteria. International Journal of Environmental Research and Public Health 2019, 16, 1895 .

AMA Style

Maria Teresa Montagna, Francesco Triggiano, Giovanna Barbuti, Nicola Bartolomeo, Osvalda De Giglio, Giusy Diella, Marco Lopuzzo, Serafina Rutigliano, Gabriella Serio, Giuseppina Caggiano. Study on the In Vitro Activity of Five Disinfectants against Nosocomial Bacteria. International Journal of Environmental Research and Public Health. 2019; 16 (11):1895.

Chicago/Turabian Style

Maria Teresa Montagna; Francesco Triggiano; Giovanna Barbuti; Nicola Bartolomeo; Osvalda De Giglio; Giusy Diella; Marco Lopuzzo; Serafina Rutigliano; Gabriella Serio; Giuseppina Caggiano. 2019. "Study on the In Vitro Activity of Five Disinfectants against Nosocomial Bacteria." International Journal of Environmental Research and Public Health 16, no. 11: 1895.

Journal article
Published: 01 March 2019 in Nutrition, Metabolism and Cardiovascular Diseases
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A significant increase in platelet count may be a risk factor for atherosclerotic cardiovascular disease. This study investigates the association between platelet number and glucose metabolism, evaluated by glycated hemoglobin (HbA1c) levels, in a apparently healthy population represented by overweight and obese subjects with normal glucose and HbA1c levels. As many as 240 subjects, 177 women and 63 men, aged 18-70 years, were enrolled. Body mass index (BMI), waist circumference (WC), systolic and diastolic blood pressure levels, platelet count and fasting blood glucose, insulin, insulin resistance, HbA1c, uric acid, triglyceride, total cholesterol, high and low density lipoprotein cholesterol concentrations were evaluated. Concerning the univariate correlation analyses between platelets number and all other variables, platelet count was significantly (and positively) correlated only with HbA1c (P < 0.05) and female sex (P < 0.01). HbA1c (P < 0.05), female sex (P < 0.001), and diastolic blood pressure (P < 0.01), positively, and age (P < 0.05) and systolic blood pressure (P < 0.05), negatively, were significantly and independently associated to platelet count in a final multiple regression analysis. This is the first study showing a strong positive and independent relationship between HbA1c and platelet number in non-diabetic overweight and obese subjects.

ACS Style

G. De Pergola; V.A. Giagulli; E. Guastamacchia; Nicola Bartolomeo; R. Tatoli; Luisa Lampignano; F. Silvestris; V. Triggiani. Platelet number is positively and independently associated with glycated hemoglobin in non-diabetic overweight and obese subjects. Nutrition, Metabolism and Cardiovascular Diseases 2019, 29, 254 -259.

AMA Style

G. De Pergola, V.A. Giagulli, E. Guastamacchia, Nicola Bartolomeo, R. Tatoli, Luisa Lampignano, F. Silvestris, V. Triggiani. Platelet number is positively and independently associated with glycated hemoglobin in non-diabetic overweight and obese subjects. Nutrition, Metabolism and Cardiovascular Diseases. 2019; 29 (3):254-259.

Chicago/Turabian Style

G. De Pergola; V.A. Giagulli; E. Guastamacchia; Nicola Bartolomeo; R. Tatoli; Luisa Lampignano; F. Silvestris; V. Triggiani. 2019. "Platelet number is positively and independently associated with glycated hemoglobin in non-diabetic overweight and obese subjects." Nutrition, Metabolism and Cardiovascular Diseases 29, no. 3: 254-259.

Journal article
Published: 05 October 2018 in Endocrine, Metabolic & Immune Disorders - Drug Targets
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Background: Low vitamin D levels have been associated with autoimmune disorders and, then, with the Hashimoto’s autoimmune thyroiditis (AT), the most common autoimmune disease. Obesity is characterized by lower vitamin D levels and higher risk to develop autoimmune diseases. The aim of the study was to examine the possibility of an association between AT and decreased 25(OH) vitamin D (25(OH)D) levels in a cohort of otherwise healthy overweight and obese subjects. Materials and Methods: Two hundred sixty one overweight subjects (mean age: 40.9 + 15.6 years, 200 women and 61 men) were enrolled for this study. All of them did not show any clinically evident metabolic or chronic diseases (i.e. hypertension, diabetes mellitus, renal failure, etc.) and did not use any kind of drug. Serum fasting levels of 25(OH)D, anti-thyroid peroxidase (TPO-Ab) and antithyroglobulin (TG-Ab) antibodies, free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH), glucose, uric acid and lipids (triglycerides, total, HDL and LDL cholesterol) were measured. Demographic, anthropometric and clinical parameters (age, body mass index (BMI), waist circumference, blood pressure) were also assessed. Results: Fifty five percent of all subjects (144/261) showed vitamin D deficiency (≤ 20 ng/ml), and 17% of all individuals had AT (45/261). The percentage of subjects having vitamin D deficiency was significantly higher among those with AT (31 of 45, 69%) than in those without AT (113 of 216, 52%) (χ2= 4.1, p = 0.042). TSH levels were significantly higher in subjects with AT as compared to those without AT (M-W = 7715.5, p Conclusion: This study clearly shows that vitamin D deficiency is significantly associated to AT in overweight and obese subjects and confirms that obesity is associated to lower vitamin D circulating levels. We suggest that screening for AT should be suggested in all obese subjects with vitamin D deficiency and that vitamin D deficiency should be researched in all obese subjects with AT.

ACS Style

Giovanni De Pergola; Vincenzo Triggiani; Nicola Bartolomeo; Vito Angelo Giagulli; Michele Anelli; Michele Masiello; Vittoria Candita; Dario De Bellis; Franco Silvestris. Low 25 Hydroxyvitamin D Levels are Independently Associated with Autoimmune Thyroiditis in a Cohort of Apparently Healthy Overweight and Obese Subjects. Endocrine, Metabolic & Immune Disorders - Drug Targets 2018, 18, 646 -652.

AMA Style

Giovanni De Pergola, Vincenzo Triggiani, Nicola Bartolomeo, Vito Angelo Giagulli, Michele Anelli, Michele Masiello, Vittoria Candita, Dario De Bellis, Franco Silvestris. Low 25 Hydroxyvitamin D Levels are Independently Associated with Autoimmune Thyroiditis in a Cohort of Apparently Healthy Overweight and Obese Subjects. Endocrine, Metabolic & Immune Disorders - Drug Targets. 2018; 18 (6):646-652.

Chicago/Turabian Style

Giovanni De Pergola; Vincenzo Triggiani; Nicola Bartolomeo; Vito Angelo Giagulli; Michele Anelli; Michele Masiello; Vittoria Candita; Dario De Bellis; Franco Silvestris. 2018. "Low 25 Hydroxyvitamin D Levels are Independently Associated with Autoimmune Thyroiditis in a Cohort of Apparently Healthy Overweight and Obese Subjects." Endocrine, Metabolic & Immune Disorders - Drug Targets 18, no. 6: 646-652.

Journal article
Published: 07 August 2018 in Nutrition, Metabolism and Cardiovascular Diseases
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A significant change of platelet number may be a risk factor for atherosclerotic cardiovascular disease. The aim of this study was to investigate the association between platelet number and early signs of atherosclerosis, evaluated by carotid intima-media thickness (c-IMT), in a apparently healthy population mainly represented by obese subjects. As many as 961 subjects, 686 women and 275 men, aged between 18 and 74 years, were enrolled in the study. Of these, 54 individuals (5.6% of all subjects) were normal weight, 259 individuals (27.0% of all subjects) were overweight, and 648 individuals (67.4% of all subjects) were obese. Waist circumference (WC) and blood glucose, insulin, total cholesterol, high and low density lipoprotein cholesterol, triglycerides and platelet count were also detected in all subjects, who underwent carotid echo color doppler ultrasound to measure c-IMT. c-IMT was significantly and positively associated to age (r = 0.204, P < 0.0001), fasting glucose (r = 0.073, P < 0.0240), total cholesterol (r = 0.096, P = 0.0031), and systolic and diastolic blood pressure (r = 0.140, P < 0.0001 and r = 0.119, P < 0.0003 respectively); c-IMT was significantly and negatively correlated with platelet count (r = −0.165, P < 0.0001). Only age (P < 0.0001) and systolic blood pressure (P = 0.0393), positively, and platelet number (P < 0.0001), negatively, were significantly and independently associated to c-IMT in a final multiple regression analysis. Lower platelet number represented an independent determinant of c-IMT in a population, mainly represented by obese patients. These results suggest that a decrease of platelet number may well be an early defensive mechanism in subjects developing the thickening of carotid artery.

ACS Style

G. De Pergola; Roberta Zupo; A. Cecere; Nicola Bartolomeo; V. Triggiani; S. Paradiso; Luisa Lampignano; F. Silvestris; M.M. Ciccone. Platelet number is negatively and independently associated with carotid intima-media thickness in apparently healthy overweight/obese subjects. Nutrition, Metabolism and Cardiovascular Diseases 2018, 28, 1217 -1221.

AMA Style

G. De Pergola, Roberta Zupo, A. Cecere, Nicola Bartolomeo, V. Triggiani, S. Paradiso, Luisa Lampignano, F. Silvestris, M.M. Ciccone. Platelet number is negatively and independently associated with carotid intima-media thickness in apparently healthy overweight/obese subjects. Nutrition, Metabolism and Cardiovascular Diseases. 2018; 28 (12):1217-1221.

Chicago/Turabian Style

G. De Pergola; Roberta Zupo; A. Cecere; Nicola Bartolomeo; V. Triggiani; S. Paradiso; Luisa Lampignano; F. Silvestris; M.M. Ciccone. 2018. "Platelet number is negatively and independently associated with carotid intima-media thickness in apparently healthy overweight/obese subjects." Nutrition, Metabolism and Cardiovascular Diseases 28, no. 12: 1217-1221.

Journal article
Published: 17 April 2018 in Genes
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Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients. Here, we aimed to identify the underlying genetic defects in 72 index patients referred to our centre for NF1. Causative mutations were identified in 58 subjects, with 29 being novel changes. We evaluated missense and non-canonical splicing mutations with both protein and splicing prediction algorithms. The ratio of splicing mutations detected was higher than that reported in recent patients’ series and in the Human Gene Mutation Database (HGMD). After applying in silico predictive tools to 41 previously reported missense variants, we demonstrated that 46.3% of these putatively missense mutations were forecasted to alter splicing instead. Our data suggest that mutations affecting splicing can be frequently underscored if not analysed in depth. We confirm that hamartomas can be useful for diagnosing NF1 in children. Lisch nodules and cutaneous neurofibromas were more frequent in patients with frameshifting mutations. In conclusion, we demonstrated that comprehensive in silico analysis can be a highly specific method for predicting the nature of NF1 mutations and may help in assuring proper patient care.

ACS Style

Alessandro Stella; Patrizia Lastella; Daria Carmela Loconte; Nenad Bukvic; Dora Varvara; Margherita Patruno; Rosanna Bagnulo; Rosaura Lovaglio; Nicola Bartolomeo; Gabriella Serio; Nicoletta Resta. Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. Genes 2018, 9, 216 .

AMA Style

Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta. Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. Genes. 2018; 9 (4):216.

Chicago/Turabian Style

Alessandro Stella; Patrizia Lastella; Daria Carmela Loconte; Nenad Bukvic; Dora Varvara; Margherita Patruno; Rosanna Bagnulo; Rosaura Lovaglio; Nicola Bartolomeo; Gabriella Serio; Nicoletta Resta. 2018. "Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1." Genes 9, no. 4: 216.

Journal article
Published: 01 February 2018 in Seizure
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The intronic rs6730344, rs6732655 and rs10167228 polymorphisms of the SCN1A gene are a potential risk factors for drug resistance. AA e AT genotype of the rs1962842 intronic polymorphism also emerged as a risk factor in the drug resistant group. Therefore, polymorphisms of the SCN1A gene could play a role in the response to AED in patients with drug-resistant epilepsy, with important implications for clinical practice.

ACS Style

Lucia Margari; Anna R. Legrottaglie; Alessandra Vincenti; Giangennaro Coppola; Francesca F. Operto; Maura Buttiglione; Amalia Cassano; Nicola Bartolomeo; Maria A. Mariggiò. Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients. Seizure 2018, 55, 30 -35.

AMA Style

Lucia Margari, Anna R. Legrottaglie, Alessandra Vincenti, Giangennaro Coppola, Francesca F. Operto, Maura Buttiglione, Amalia Cassano, Nicola Bartolomeo, Maria A. Mariggiò. Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients. Seizure. 2018; 55 ():30-35.

Chicago/Turabian Style

Lucia Margari; Anna R. Legrottaglie; Alessandra Vincenti; Giangennaro Coppola; Francesca F. Operto; Maura Buttiglione; Amalia Cassano; Nicola Bartolomeo; Maria A. Mariggiò. 2018. "Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients." Seizure 55, no. : 30-35.