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3. Sinonasal cancer incidence in Lombardy, Italy, 2008–20.

Author

Consonni, D, Stoppa, G, Binazzi, A, Dallari, B, Stella, S, Rugarli, S, Trobbiani, C, Biggeri, A, Catelan, D, and Mensi, C

Subjects
*PARANASAL sinuses, *INDUSTRIAL clusters, *CHROMIUM compounds, *SHOE industry, *FURNITURE industry
Abstract

Background Epithelial sinonasal cancers (SNC) are rare tumours with recognized associations with known/suspected occupational carcinogens (wood/leather dust, nickel/chromium compounds and formaldehyde). In Italy, a national SNC registry organized as a network of regional registries was established by law in 2008. Aims To describe SNC time trends, occupational exposures and geographical distribution in Lombardy, North-West Italy, based on population registry data (2008–20). Methods The Lombardy SNC Registry records epithelial SNCs using various sources. Interviews to collect occupational history are performed using a standardized questionnaire. Using several standard populations, we calculated yearly crude and age-standardized rates (ASRs per 100,000 person-years). Standardized incidence ratios (SIR) at municipality level were calculated, and Bayesian models were fitted to produce smoothed SIR maps. Results We recorded 827 cases (553 men, 274 women). Crude (world standardized) ASRs were 0.9 (0.4) in men and 0.4 (0.2) in women, with no time trends. Interviews were obtained for 485 (88%) men and 223 (81%) women. Among men, 217 (45%) had been exposed to occupational carcinogens (wood/leather dust: 150/65 cases, 31%/13%), while only 36 women (16%) were exposed. Among 201 men with adenocarcinoma, exposure to wood/leather dust occurred in 103/50 cases (75%/50%). Areas with elevated SIRs associated with leather dust were found in the Western areas. Exposure to wood dust was more widespread. Conclusions This study found a high frequency of occupational exposures (wood and leather dust), particularly in men with SNC. Employment in shoe industries clustered in the Western part, while work in furniture industries was less spatially structured. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Treatment discontinuation following low-dose TKIs in 248 chronic myeloid leukemia patients: Updated results from a campus CML real-life study

Author

Iurlo, A., primary, Cattaneo, D., additional, Consonni, D., additional, Castagnetti, F., additional, Miggiano, M. C., additional, Binotto, G., additional, Bonifacio, M., additional, Rege-Cambrin, G., additional, Tiribelli, M., additional, Lunghi, F., additional, Gozzini, A., additional, Pregno, P., additional, Abruzzese, E., additional, Capodanno, I., additional, Bucelli, C., additional, Pizzuti, M., additional, Artuso, S., additional, Iezza, M., additional, Scalzulli, E., additional, La Barba, G., additional, Maggi, A., additional, Russo, S., additional, Elena, C., additional, Scortechini, A. R., additional, Tafuri, A., additional, Latagliata, R., additional, Caocci, G., additional, Bocchia, M., additional, Galimberti, S., additional, Luciano, L., additional, Fava, C., additional, Foà, R., additional, Saglio, G., additional, Rosti, G., additional, and Breccia, M., additional

Published
2023
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10. Lung asbestos fiber burden analysis: effects of the counting rules for legal medicine evaluations

Author

Somigliana, A, Barbieri, P, Cavallo, A, Colombo, R, Consonni, D, Mirabelli, D, Somigliana, AB, Barbieri, PG, Somigliana, A, Barbieri, P, Cavallo, A, Colombo, R, Consonni, D, Mirabelli, D, Somigliana, AB, and Barbieri, PG

Abstract

Objectives: The work shows the effect of counting rules, such as analysis magnification and asbestos fiber dimension to be count (with length ≥5 µm or also asbestos fibers with length <5 µm) in the lung asbestos fiber burden analysis for legal medicine evaluations. Methods: On the same lung tissue samples, two different analyses were carried out to count any asbestos fibers with length ≥1 µm and with length ≥5 µm. Results of the amphibole burden of the two analyses were compared by linear regression analysis on log10-transformed values. Results: The analysis should be carried out at an appropriate magnification and on samples prepared in such a way as they allow the counting of very fine fibers. If the analysis is limited to the asbestos fibers with length ≥5 µm, there is a high risk of not detecting possible residual chrysotile fiber burden and thinner crocidolite asbestos fibers. Conclusions: On average we estimated that 1 amphibole fiber with length ≥5 µm corresponds to ∼8 amphibole fibers with length ≥1 µm in the lung. The values of the Helsinki criteria should be updated taking this into account.

Published
2023

11. Association between asbestos exposure and pericardial and tunica vaginalis testis malignant mesothelioma: a case–control study and epidemiological remarks

Author

Marinaccio, A., Consonni, D., Mensi, C., Mirabelli, D., Migliore, E., Magnani, C., Di Marzio, D., Gennaro, V., Mazzoleni, G., Girardi, P., Negro, C., Romanelli, A., Chellini, E., Grappasonni, I., Madeo, G., Romeo, E., Ascoli, V., Carrozza, F., Angelillo, I. F., Cavone, D., Tumino, R., Melis, M., Curti, S., Brandi, G., Mattioli, S., Iavicoli, S., Dallari, B., Pesatori, A. C., Riboldi, L., Merletti, F., Gangemi, M., Stura, A., Brentisci, C., Gilardetti, M., Benfatto, L., Canessa, P. A., Malacarne, D., Mazzucco, G., Campi, M. G., Fedeli, U., Bressan, V., Gioffre, F., Ballarin, M. N., Chermaz, C., D'Agostin, F., De Michieli, P., Mangone, L., Storchi, C., Sala, O., Badiali, A. M., Cacciarini, V., Giovannetti, L., Martini, A., Calisti, R., Pascucci, C., Stracci, F., Masanotti, G., Davoli, M., Cavariani, F., Ancona, L., Annunziata, A., Menegozzo, S., Napolitano, F., Pelullo, C. P., Vimercati, L., Cascone, G., Frasca, G., Giurdanella, M. C., Martorana, C., Nicita, C., Rollo, C. P., Spata, E., Dardanoni, G., Scondotto, S., Nieddu, V., Pergola, M., Stecchi, S., Marinaccio, A., Consonni, D., Mensi, C., Mirabelli, D., Migliore, E., Magnani, C., Di Marzio, D., Gennaro, V., Mazzoleni, G., Girardi, P., Negro, C., Romanelli, A., Chellini, E., Grappasonni, I., Madeo, G., Romeo, E., Ascoli, V., Carrozza, F., Angelillo, I. F., Cavone, D., Tumino, R., Melis, M., Curti, S., Brandi, G., Mattioli, S., Iavicoli, S., Dallari, B., Pesatori, A. C., Riboldi, L., Merletti, F., Gangemi, M., Stura, A., Brentisci, C., Gilardetti, M., Benfatto, L., Canessa, P. A., Malacarne, D., Mazzucco, G., Campi, M. G., Fedeli, U., Bressan, V., Gioffre, F., Ballarin, M. N., Chermaz, C., D'Agostin, F., De Michieli, P., Mangone, L., Storchi, C., Sala, O., Badiali, A. M., Cacciarini, V., Giovannetti, L., Martini, A., Calisti, R., Pascucci, C., Stracci, F., Masanotti, G., Davoli, M., Cavariani, F., Ancona, L., Annunziata, A., Menegozzo, S., Napolitano, F., Pelullo, C. P., Vimercati, L., Cascone, G., Frasca, G., Giurdanella, M. C., Martorana, C., Nicita, C., Rollo, C. P., Spata, E., Dardanoni, G., Scondotto, S., Nieddu, V., Pergola, M., Stecchi, S., Marinaccio A., Consonni D., Mensi C., Mirabelli D., Migliore E., Magnani C., Di Marzio D., Gennaro V., Mazzoleni G., Girardi P., Negro C., Romanelli A., Chellini E., Grappasonni I., Madeo G., Romeo E., Ascoli V., Carrozza F., Angelillo I.F., Cavone D., Tumino R., Melis M., Curti S., Brandi G., Mattioli S., Iavicoli S., Dallari B., Pesatori A.C., Riboldi L., Merletti F., Gangemi M., Stura A., Brentisci C., Gilardetti M., Benfatto L., Canessa P.A., Malacarne D., Mazzucco G., Campi M.G., Fedeli U., Bressan V., Gioffre F., Ballarin M.N., Chermaz C., D'agostin F., De Michieli P., Mangone L., Storchi C., Sala O., Badiali A.M., Cacciarini V., Giovannetti L., Martini A., Calisti R., Pascucci C., Stracci F., Masanotti G., Davoli M., Cavariani F., Ancona L., Annunziata A., Menegozzo S., Napolitano F., Pelullo C.P., Vimercati L., Cascone G., Frasca G., Giurdanella M.C., Martorana C., Nicita C., Rollo C.P., Spata E., Dardanoni G., Scondotto S., Nieddu V., Pergola M., Stecchi S., Marinaccio, Alessandro, Consonni, Dario, Mensi, Carolina, Mirabelli, Dario, Migliore, Enrica, Magnani, Corrado, Di Marzio, Davide, Gennaro, Valerio, Mazzoleni, Guido, Girardi, Paolo, Negro, Corrado, Romanelli, Antonio, Chellini, Elisabetta, Grappasonni, Iolanda, Madeo, Gabriella, Romeo, Elisa, Ascoli, Valeria, Carrozza, Francesco, Angelillo, Italo Francesco, Cavone, Domenica, Tumino, Rosario, Melis, Massimo, Curti, Stefania, Brandi, Giovanni, Mattioli, Stefano, and Iavicoli, Sergio

Subjects
medicine.medical_specialty, pericardial and tunica vaginalis testis, Epidemiology, Population, rare disease, national registry, medicine.disease_cause, Epidemiology, Italy, National registry, Rare disease, Asbestos, epidemiology, Italy, national registry, rare disease, NO, 03 medical and health sciences, 0302 clinical medicine, italy, medicine, epidemiology, Italy, Mesothelioma, education, Gynecology, education.field_of_study, business.industry, Public Health, Environmental and Occupational Health, Tunica vaginalis testis, Case-control study, case–control study, Odds ratio, medicine.disease, asbestos, 030210 environmental & occupational health, National registry, exposure, mesothelioma, malignant mesothelioma, Original Article, Public aspects of medicine, RA1-1270, business, Rare disease
Abstract

Objectives: The purposes of this study are to describe the epidemiology of pericardial and tunica vaginalis testis mesothelioma and assess the role of asbestos exposure for these rare diseases. Methods: Based on incident pericardial and tunica vaginalis testis mesothelioma cases collected from the Italian national mesothelioma registry (ReNaM) in the period 1993–2015, incidence rates, survival median period and prognostic factors have been evaluated. A case–control study has been performed to analyze the association with asbestos exposure (occupational and non-occupational) for these diseases. Results: Between 1993 and 2015, 58 pericardial (20 women and 38 men) and 80 tunica vaginalis testis mesothelioma cases have been registered with a mean annual standardized (world standard population as reference) incidence rates of 0.049 (per million) in men and 0.023 in women for the pericardial site, and 0.095 for tunica vaginalis testis mesothelioma. Occupational exposure to asbestos was significantly associated with the risk of the diseases [odds ratio (OR) 3.68, 95% confidence interval (CI) 1.85–7.31 and OR 3.42, 95% CI 1.93–6.04 in pericardial and tunica vaginalis testis mesothelioma, respectively]. The median survival was 2.5 months for pericardial and 33.0 months for tunica vaginalis testis mesotheliomas. Age was the main predictive factor for survival for both anatomical sites. Conclusions: For the first time in an analytical study, asbestos exposure was associated with pericardial and tunica vaginalis testis mesothelioma risk, supporting the causal role of asbestos for all anatomical sites. The extreme rarity of the diseases, the poor survival and the prognostic role of age have been confirmed based on population and nationwide mesothelioma registry data.

Published
2020

17. Authors’ response: Mezei et al's 'comments on a recent case-control study of malignant mesothelioma of the pericardium and the tunica vaginalis testis'

Author

Marinaccio A., Consonni D., Mensi C., Mirabelli D., Migliore E., Magnani C., Di Marzio D., Gennaro V., Mazzoleni G., Girardi P., Negro C., Romanelli A., Chellini E., Grappasonni I., Madeo G., Romeo E., Ascoli V., Carrozza F., Angelillo I. F., Cavone D., Tumino R., Melis M., Curti S., Brandi G., Mattioli S., Iavicoli S., Marinaccio, A., Consonni, D., Mensi, C., Mirabelli, D., Migliore, E., Magnani, C., Di Marzio, D., Gennaro, V., Mazzoleni, G., Girardi, P., Negro, C., Romanelli, A., Chellini, E., Grappasonni, I., Madeo, G., Romeo, E., Ascoli, V., Carrozza, F., Angelillo, I. F., Cavone, D., Tumino, R., Melis, M., Curti, S., Brandi, G., Mattioli, S., Iavicoli, S., Marinaccio A., Consonni D., Mensi C., Mirabelli D., Migliore E., Magnani C., Di Marzio D., Gennaro V., Mazzoleni G., Girardi P., Negro C., Romanelli A., Chellini E., Grappasonni I., Madeo G., Romeo E., Ascoli V., Carrozza F., Angelillo I.F., Cavone D., Tumino R., Melis M., Curti S., Brandi G., Mattioli S., and Iavicoli S.

Subjects
Mesothelioma, Tunica vaginalis testis, Economica, Letter, pericardial and tunica vaginalis testis (TVT), Socio-culturale, Ambientale, mesothelioma, ReNaM, Key terms: asbestos, Key terms: asbesto, Pericardium, Malignant mesothelioma
Abstract

Mezei et al's letter (1) is an opportunity to provide more details about our study on pericardial and tunica vaginalis testis (TVT) mesothelioma (2), which is based on the Italian national mesothelioma registry (ReNaM): a surveillance system on mesothelioma, with individual asbestos exposure assessment. Incidence of pericardial mesothelioma has been estimated around 0.5 and 0.2 cases per 10 million person-years in men and women, respectively, and around 1 case for TVT mesothelioma. ReNaM collected 138 cases thanks to its long period of observation (1993-2015) and national coverage. Conducting a population-based case-control study with incidence-density sampling of controls across Italy and over a 23 year time-span should have been planned in 1993 and would have been beyond feasibility and ReNaM scope. We rather exploited two existing series of controls (3). The resulting incomplete time- and spatial matching of cases and controls is a limitation of our study and has been acknowledged in our article. The analysis of case-control studies can nevertheless be accomplished in logistic models accounting for the variables of interest, in both individually and frequency matched studies (4). Furthermore, analyses restricted to (i) regions with enrolled controls, (ii) cases with definite diagnosis, (iii) incidence period 2000-2015, and (iv) subjects born before 1950 have been provided in the manuscript, confirming the strength of the association with asbestos exposure (supplemental material tables S4-7). Following Mezei et al's suggestion, we performed further sensitivity analyses by restriction to regions with controls and fitting conditional regression models using risk-sets made of combinations of age and year of birth categories (5-year classes for both). We confirmed positive associations with occupational exposure to asbestos of pericardial mesothelioma, with odds ratios (OR) (adjusted for region) of 9.16 among women [95% confidence interval (CI) 0.56-150] and 5.63 (95% CI 1.02-31.0) among men; for TVT mesothelioma the OR was 7.70 (95% CI 2.89-20.5). Using risk sets of age categories and introducing year of birth (5-year categories) as a covariate (dummy variables) the OR were similar: OR (adjusted for region) of 9.17 among women (95% CI 0.56-150) and 5.76 (95% CI 1.07-31.0) among men; for TVT the OR was 9.86 (95% CI 3.46-28.1). Possible bias from incomplete geographical overlap between cases and controls has been addressed in the paper (table S4) and above. In spatially restricted analyses, OR were larger than in those including cases from the whole country, indicating that bias was towards the null. Mezei et al further noted that "the regional distribution of controls is different from that of person-time observed". This objection is not relevant because the above analyses were adjusted by region. Our controls were provided by a population-based study on pleural mesothelioma (called MISEM) and a hospital-based study on cholangiocarcinoma (called CARA). In MISEM, the response rate was 48.4%, a low but not unexpected rate as participation among population controls is usually lower and has been declining over time (5). It is important to underline that ReNaM applied the same questionnaire that was used for interviews and carried out the same exposure assessment as both MISEM and CARA. As repeatedly stated in ReNaM papers (6-7), each regional operating center assesses asbestos exposure based on the individual questionnaire, other available information, and knowledge of local industries. Occupational exposure to asbestos is classified as definite, probable or possible. Occupational exposure is (i) definite when the subject`s work was reported or otherwise known to have involved the use of asbestos or asbestos-containing materials (MCA); (ii) probable when subjects worked in factories where asbestos or MCA were used, but their personal exposure could not be documented; and (iii) possible when they were employed in industrial activities known to entail the use of asbestos or MCA. Hence, the definite and probable categories are closer to one another and were combined in our analyses. In any case, restricting analyses to subjects with definite occupational exposure and using each set of controls separately, as suggested by Mezei et al, yielded elevated OR for TVT and pericardial mesothelioma among men using both the above described modelling strategies; the OR could not be calculated for women. There were 70 (25 pericardial and 45 TVT) occupationally exposed mesothelioma cases. In population-based studies, analyses by occupation are limited by the low prevalence of most specific jobs. As briefly reported in our paper, for purely descriptive purposes, the industrial activity of exposure (cases may have multiple exposures), were construction (22 exposures, 7 and 15 for pericardial and TVT mesotheliomas, respectively), steel mills and other metal working industries (4 and 11), textile industries (2 and 3), and agriculture (2 and 5); other sectors had lower exposure frequencies. The absence of industries like asbestos-cement production, shipbuilding and railway carriages production/repair should not be surprising and had already been observed (7). In the Italian multicenter cohort study of asbestos workers (8), given the person-years of observation accrued by workers employed in these industries and gender- and site-specific crude incidence rates, approximately 0.1 case of pericardial and 0.2 of TVT mesothelioma would have been expected from 1970 to 2010. Even increasing ten-fold such figures to account for higher occupational risks among these workers would not change much. Asbestos exposure in agriculture has been repeatedly discussed in ReNaM reports (9: pages 70, 73, 128, 164 and 205). Exposure opportunities included the presence of asbestos in wine production, reuse of hessian bags previously containing asbestos, or construction and maintenance of rural buildings. Similarly, mesothelioma cases and agricultural workers exposed to asbestos have been noted in France (10). In conclusion, the additional analyses we performed according to Mezei et al's suggestions confirm the association between asbestos exposure and pericardial and TVT mesothelioma, supporting the causal role of asbestos for all mesotheliomas. ReNaM`s continuing surveillance system with national coverage is a precious platform for launching analytical studies on pleural and extra pleural mesothelioma. References 1. Mezei G, Chang ET, Mowat FS, Moolgavkar SH. Comments on a recent case-control study of malignant mesothelioma of the pericardium and the tunica vaginalis testis Scand J Work Environ Health. 2021;47(1):85-86. https://doi.org/10.5271/3909 2. Marinaccio A, Consonni D, Mensi C, Mirabelli D, Migliore E, Magnani C et al.; ReNaM Working Group. Association between asbestos exposure and pericardial and tunica vaginalis testis malignant mesothelioma: a case-control study and epidemiological remarks. Scand J Work Environ Health. 2020;46(6):609-617. https://doi.org/10.5271/sjweh.3895. 3. Greenland S. Control-initiated case-control studies. Int J Epidemiol 1985 Mar;14(1):130-4. https://doi.org/10.1093/ije/14.1.130. 4. Pearce N. Analysis of matched case-control studies. BMJ 2016 Feb;352:i969. https://doi.org/10.1136/bmj.i969. 5. Bigert C, Gustavsson P, Straif K, Pesch B, Brüning T, Kendzia B et al. Lung cancer risk among cooks when accounting for tobacco smoking: a pooled analysis of case-control studies from Europe, Canada, New Zealand, and China. J Occup Environ Med 2015 Feb;57(2):202-9. https://doi.org/10.1097/JOM.0000000000000337. 6. Marinaccio A, Binazzi A, Marzio DD, Scarselli A, Verardo M, Mirabelli D et al.; ReNaM Working Group. Pleural malignant mesothelioma epidemic: incidence, modalities of asbestos exposure and occupations involved from the Italian National Register. Int J Cancer 2012 May;130(9):2146-54. https://doi.org/10.1002/ijc.26229. 7. Marinaccio A, Binazzi A, Di Marzio D, Scarselli A, Verardo M, Mirabelli D et al. Incidence of extrapleural malignant mesothelioma and asbestos exposure, from the Italian national register. Occup Environ Med 2010 Nov;67(11):760-5. https://doi.org/10.1136/oem.2009.051466. 8. Ferrante D, Chellini E, Merler E, Pavone V, Silvestri S, Miligi L et al.; the working group. Italian pool of asbestos workers cohorts: mortality trends of asbestos-related neoplasms after long time since first exposure. Occup Environ Med 2017 Dec;74(12):887-98. https://doi.org/10.1136/oemed-2016-104100. 9. ReNaM VI Report. Available from: https://www.inail.it/cs/internet/docs/alg-pubbl-registro-nazionale-mesoteliomi-6-rapporto.pdf. Italian 10. Marant Micallef C, Shield KD, Vignat J, Baldi I, Charbotel B, Fervers B et al. Cancers in France in 2015 attributable to occupational exposures. Int J Hyg Environ Health 2019 Jan;222(1):22-9. https://doi.org/10.1016/j.ijheh.2018.07.015.

Published
2021

19. The impact of the COVID-19 outbreak on Liver Transplantation programmes in Northern Italy

Author

Maggi, U, De Carlis, L, Yiu, D, Colledan, M, Regalia, E, Rossi, G, Angrisani, M, Consonni, D, Fornoni, G, Piccolo, G, Defeo, T, Maggi U., De Carlis L., Yiu D., Colledan M., Regalia E., Rossi G., Angrisani M., Consonni D., Fornoni G., Piccolo G., DeFeo T. M., Maggi, U, De Carlis, L, Yiu, D, Colledan, M, Regalia, E, Rossi, G, Angrisani, M, Consonni, D, Fornoni, G, Piccolo, G, Defeo, T, Maggi U., De Carlis L., Yiu D., Colledan M., Regalia E., Rossi G., Angrisani M., Consonni D., Fornoni G., Piccolo G., and DeFeo T. M.

Abstract

In January 2020, Novel Coronavirus Disease 2019 (COVID-19) resulted in a global pandemic, creating uncertainty towards the management of Liver Transplantation (LT) programmes. Lombardy has been the most affected region in Italy: The current mortality rate of COVID-19 patients is 18,3% (10022 deaths) (April 10th) with hospitals in Lombardy having to expand the total number of ICU beds from 724 to 1381 to accommodate infected patients. There has been a drastic decrease in liver donors. From February 23rd until April 10th, 17 LTs were performed in Lombardy. Mean donor age was 49 years (range 18-74) whereas mean recipient age was 55 (13-69); mean MELD Score was 12 (6-24). All donors underwent screening for SARS CoV-2 prior to LT. Two patients tested positive after LT, and one patient died for COVID on POD 30. 16 patients are alive after an average of 30 days post LT (range 3-46). 10 patients have been discharged. This study has found no specific reason concerning the safety of recipients, to stop liver transplantation programmes. Several Key-lessons from our experience are reported. However, due to the complex circumstances which surround the viral outbreak, the cessation or a reduction in LT activity is a pragmatic requirement.

Published
2020

24. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

Author

Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD, Farina F, Codeluppi K, Rivolti E, Simonetti F, Lunghi F, Perrone T, Sgherza N, Carrai V, Cafro AM, Cairoli R, Amendola A, Trabacchi E, Vallisa D, Burgo I, Federici AB, Carbone C, D’Adda M, Mannina D, Di Giacomo V, Lupparelli G, Lombardo A., Motta, I, Consonni, D, Stroppiano, M, Benedetto, C, Cassinerio, E, Tappino, B, Ranalli, P, Borin, L, Facchini, L, Patriarca, A, Barcellini, W, Lanza, F, Filocamo, M, Cappellini, M, Farina, F, Codeluppi, K, Rivolti, E, Simonetti, F, Lunghi, F, Perrone, T, Sgherza, N, Carrai, V, Cafro, A, Cairoli, R, Amendola, A, Trabacchi, E, Vallisa, D, Burgo, I, Federici, A, Carbone, C, D’Adda, M, Mannina, D, Di Giacomo, V, Lupparelli, G, and Lombardo, A

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Science, Population, Diseases, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Hematologist, education, education.field_of_study, Gaucher Disease, Multidisciplinary, biology, Transferrin saturation, business.industry, beta-Glucosidase, Middle Aged, Thrombocytopenia, Dried blood spot, Algorithm, Ferritin, Multicenter study, 030220 oncology & carcinogenesis, Splenomegaly, biology.protein, Medicine, Female, business, Haematological diseases, Algorithms, Human, 030215 immunology
Abstract

Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.

Published
2021

27. ESICM LIVES 2016: part one: Milan, Italy. 1-5 October 2016

Author

Bos, L., Schouten, L., van Vught, L., Wiewel, M., Ong, D., Cremer, O., Artigas, A., Martin-Loeches, I., Hoogendijk, A., van der Poll, T., Horn, J., Juffermans, N., Schultz, M., de Prost, N., Pham, T., Carteaux, G., Dessap, A. Mekontso, Brun-Buisson, C., Fan, E., Bellani, G., Laffey, J., Mercat, A., Brochard, L., Maitre, B., Howells, P. A., Thickett, D. R., Knox, C., Park, D. P., Gao, F., Tucker, O., Whitehouse, T., McAuley, D. F., Perkins, G. D., Pham, T., Laffey, J., Bellani, G., Fan, E., Pisani, L., Roozeman, J. P., Simonis, F. D., Giangregorio, A., Schouten, L. R., Van der Hoeven, S. M., Horn, J., Neto, A. Serpa, Festic, E., Dondorp, A. M., Grasso, S., Bos, L. D., Schultz, M. J., Koster-Brouwer, M., Verboom, D., Scicluna, B., van de Groep, K., Frencken, J., Schultz, M., van der Poll, T., Bonten, M., Cremer, O., Ko, J. I., Kim, K. S., Suh, G. J., Kwon, W. Y., Kim, K., Shin, J. H., Ranzani, O. T., Prina, E., Menendez, R., Ceccato, A., Mendez, R., Cilloniz, C., Gabarrus, A., Ferrer, M., Torres, A., Urbano, A., Zhang, L. A., Swigon, D., Pike, F., Parker, R. S., Clermont, G., Scheer, C., Kuhn, S. O., Modler, A., Vollmer, M., Fuchs, C., Hahnenkamp, K., Rehberg, S., Gründling, M., Taggu, A., Darang, N., Öveges, N., László, I., Tánczos, K., Németh, M., Lebák, G., Tudor, B., Érces, D., Kaszaki, J., Huber, W., Trásy, D., Molnár, Z., Ferrara, G., Edul, V. S. Kanoore, Canales, H. S., Martins, E., Canullán, C., Murias, G., Pozo, M. O., Eguillor, J. F. Caminos, Buscetti, M. G., Ince, C., Dubin, A., Aya, H. D., Rhodes, A., Fletcher, N., Grounds, R. M., Cecconi, M., Jacquet-Lagrèze, M., Riche, M., Schweizer, R., Portran, P., Fornier, W., Lilot, M., Neidecker, J., Fellahi, J. L., Escoresca-Ortega, A., Gutiérrez-Pizarraya, A., Charris-Castro, L., Corcia-Palomo, Y., Fernandez-Delgado, E., Garnacho-Montero, J., Roger, C., Muller, L., Elotmani, L., Lipman, J., Lefrant, J. Y., Roberts, J. A., Muñoz-Bermúdez, R., Samper, M., Climent, C., Vasco, F., Sara, V., Luque, S., Campillo, N., Cerrato, S. Grau, Masclans, J. R., Alvarez-Lerma, F., Brugger, S. Carvalho, Jimenez, G. Jimenez, Torner, M. Miralbés, Cabello, J. Trujillano, Garrido, B. Balsera, Casals, X. Nuvials, Gaite, F. Barcenilla, Vidal, M. Vallverdú, Martínez, M. Palomar, Gusarov, V., Shilkin, D., Dementienko, M., Nesterova, E., Lashenkova, N., Kuzovlev, A., Zamyatin, M., Demoule, A., Carreira, S., Lavault, S., Palancca, O., Morawiec, E., Mayaux, J., Arnulf, I., Similowski, T., Rasmussen, B. S., Maltesen, R. G., Hanifa, M., Pedersen, S., Kristensen, S. R., Wimmer, R., Panigada, M., Bassi, G. Li, Ranzani, O. T., Kolobow, T., Zanella, A., Cressoni, M., Berra, L., Parrini, V., Kandil, H., Salati, G., Livigni, S., Amatu, A., Andreotti, A., Tagliaferri, F., Moise, G., Mercurio, G., Costa, A., Vezzani, A., Lindau, S., Babel, J., Cavana, M., Consonni, D., Pesenti, A., Gattinoni, L., Torres, A., Mansouri, P., Zand, F., Zahed, L., Dehghanrad, F., Bahrani, M., Ghorbani, M., Cambiaghi, B., Moerer, O., Mauri, T., Kunze-Szikszay, N., Ritter, C., Pesenti, A., Quintel, M., Vilander, L. M., Kaunisto, M. A., Vaara, S. T., Pettilä, V., Mulier, J. L. G. Haitsma, Rozemeijer, S., Spoelstra-de Man, A. M. E., Elbers, P. E., Tuinman, P. R., de Waard, M. C., Oudemans-van Straaten, H. M., Liberatore, A. M. A., Souza, R. B., Martins, A. M. C. R. P. F., Vieira, J. C. F., Koh, I. H. J., Martínez, M. Galindo, Sánchez, R. Jiménez, Gascón, L. Martínez, Mulero, M. D. Rodríguez, Freire, A. Ortín, Muñoz, A. Ojados, Acebes, S. Rebollo, Martínez, Á. Fernández, Aliaga, S. Moreno, Para, L. Herrera, Payá, J. Murcia, Mulero, F. Rodríguez, Guerci, P., Ince, Y., Heeman, P., Ergin, B., Ince, C., Uz, Z., Massey, M., Ince, Y., Papatella, R., Bulent, E., Guerci, P., Toraman, F., Ince, C., Longbottom, E. R., Torrance, H. D., Owen, H. C., Hinds, C. J., Pearse, R. M., O’Dywer, M. J., Trogrlic, Z., van der Jagt, M., Lingsma, H., Ponssen, H. H., Schoonderbeek, J. F., Schreiner, F., Verbrugge, S. J., Duran, S., van Achterberg, T., Bakker, J., Gommers, D. A. M. P. J., Ista, E., Krajčová, A., Waldauf, P., Duška, F., Shah, A., Roy, N., McKechnie, S., Doree, C., Fisher, S., Stanworth, S. J., Jensen, J. F., Overgaard, D., Bestle, M. H., Christensen, D. F., Egerod, I., Pivkina, A., Gusarov, V., Zhivotneva, I., Pasko, N., Zamyatin, M., Jensen, J. F., Egerod, I., Bestle, M. H., Christensen, D. F., Alklit, A., Hansen, R. L., Knudsen, H., Grode, L. B., Overgaard, D., Hravnak, M., Chen, L., Dubrawski, A., Clermont, G., Pinsky, M. R., Parry, S. M., Knight, L. D., Connolly, B. C., Baldwin, C. E., Puthucheary, Z. A., Denehy, L., Hart, N., Morris, P. E., Mortimore, J., Granger, C. L., Jensen, H. I., Piers, R., Van den Bulcke, B., Malmgren, J., Metaxa, V., Reyners, A. K., Darmon, M., Rusinova, K., Talmor, D., Meert, A. P., Cancelliere, L., Zubek, L., Maia, P., Michalsen, A., Decruyenaere, J., Kompanje, E., Vanheule, S., Azoulay, E., Vansteelandt, S., Benoit, D., Van den Bulcke, B., Piers, R., Jensen, H. I., Malmgren, J., Metaxa, V., Reyners, A. K., Darmon, M., Rusinova, K., Talmor, D., Meert, A. P., Cancelliere, L., Zubek, L., Maia, P., Michalsen, A., Decruyenaere, J., Kompanje, E., Vanheule, S., Azoulay, E., Vansteelandt, S., Benoit, D., Ryan, C., Dawson, D., Ball, J., Noone, K., Aisling, B., Prudden, S., Ntantana, A., Matamis, D., Savvidou, S., Giannakou, M., Gouva, M., Nakos, G., Koulouras, V., Aron, J., Lumley, G., Milliken, D., Dhadwal, K., McGrath, B. A., Lynch, S. J., Bovento, B., Sharpe, G., Grainger, E., Pieri-Davies, S., Wallace, S., McGrath, B., Lynch, S. J., Bovento, B., Grainger, E., Pieri-Davies, S., Sharpe, G., Wallace, S., Jung, M., Cho, J., Park, H., Suh, G., Kousha, O., Paddle, J., Gripenberg, L. Gamrin, Rehal, M. Sundström, Wernerman, J., Rooyackers, O., de Grooth, H. J., Choo, W. P., Spoelstra-de Man, A. M., Swart, E. L., Oudemans-van Straaten, H. M., Talan, L., Güven, G., Altıntas, N. D., Padar, M., Uusvel, G., Starkopf, L., Starkopf, J., Blaser, A. Reintam, Kalaiselvan, M. S., Arunkumar, A. S., Renuka, M. K., Shivkumar, R. L., Volbeda, M., ten Kate, D., Hoekstra, M., van der Maaten, J. M., Nijsten, M. W., Komaromi, A., Rooyackers, O., Wernerman, J., Norberg, Å., Smedberg, M., Mori, M., Pettersson, L., Norberg, Å., Rooyackers, O., Wernerman, J., Theodorakopoulou, M., Christodoulopoulou, T., Diamantakis, A., Frantzeskaki, F., Kontogiorgi, M., Chrysanthopoulou, E., Lygnos, M., Diakaki, C., Armaganidis, A., Gundogan, K., Dogan, E., Coskun, R., Muhtaroglu, S., Sungur, M., Ziegler, T., Guven, M., Kleyman, A., Khaliq, W., Andreas, D., Singer, M., Meierhans, R., Schuepbach, R., De Brito-Ashurst, I., Zand, F., Sabetian, G., Nikandish, R., Hagar, F., Masjedi, M., Maghsudi, B., Vazin, A., Ghorbani, M., Asadpour, E., Kao, K. C., Chiu, L. C., Hung, C. Y., Chang, C. H., Li, S. H., Hu, H. C., El Maraghi, S., Ali, M., Rageb, D., Helmy, M., Marin-Corral, J., Vilà, C., Masclans, J. R., Vàzquez, A., Martín-Loeches, I., Díaz, E., Yébenes, J. C., Rodriguez, A., Álvarez-Lerma, F., Varga, N., Cortina-Gutiérrez, A., Dono, L., Martínez-Martínez, M., Maldonado, C., Papiol, E., Pérez-Carrasco, M., Ferrer, R., Nweze, K., Morton, B., Welters, I., Houard, M., Voisin, B., Ledoux, G., Six, S., Jaillette, E., Nseir, S., Romdhani, S., Bouneb, R., Loghmari, D., Aicha, N. Ben, Ayachi, J., Meddeb, K., Chouchène, I., Khedher, A., Boussarsar, M., Chan, K. S., Yu, W. L., Marin-Corral, J., Vilà, C., Masclans, J. R., Nolla, J., Vidaur, L., Bonastre, J., Suberbiola, B., Guerrero, J. E., Rodriguez, A., Coll, N. Ramon, Jiménez, G. Jiménez, Brugger, S. Carvalho, Calero, J. Codina, Garrido, B. Balsera, García, M., Martínez, M. Palomar, Vidal, M. Vallverdú, de la Torre, M. C., Vendrell, E., Palomera, E., Güell, E., Yébenes, J. C., Serra-Prat, M., Bermejo-Martín, J. F., Almirall, J., Tomas, E., Escoval, A., Froe, F., Pereira, M. H. Vitoria, Velez, N., Viegas, E., Filipe, E., Groves, C., Reay, M., Chiu, L. C., Hu, H. C., Hung, C. Y., Chang, C. H., Li, S. H., Kao, K. C., Ballin, A., Facchin, F., Sartori, G., Zarantonello, F., Campello, E., Radu, C. M., Rossi, S., Ori, C., Simioni, P., Umei, N., Shingo, I., Santos, A. C., Candeias, C., Moniz, I., Marçal, R., e Silva, Z. Costa, Ribeiro, J. M., Georger, J. F., Ponthus, J. P., Tchir, M., Amilien, V., Ayoub, M., Barsam, E., Martucci, G., Panarello, G., Tuzzolino, F., Capitanio, G., Ferrazza, V., Carollo, T., Giovanni, L., Arcadipane, A., Sánchez, M. López, González-Gay, M. A., Díaz, F. J. Llorca, López, M. I. Rubio, Zogheib, E., Villeret, L., Nader, J., Bernasinski, M., Besserve, P., Caus, T., Dupont, H., Morimont, P., Habran, S., Hubert, R., Desaive, T., Blaffart, F., Janssen, N., Guiot, J., Pironet, A., Dauby, P., Lambermont, B., Zarantonello, F., Ballin, A., Facchin, F., Sartori, G., Campello, E., Pettenuzzo, T., Citton, G., Rossi, S., Simioni, P., Ori, C., Kirakli, C., Ediboglu, O., Ataman, S., Yarici, M., Tuksavul, F., Keating, S., Gibson, A., Gilles, M., Dunn, M., Price, G., Young, N., Remeta, P., Bishop, P., Zamora, M. D. Fernández, Muñoz-Bono, J., Curiel-Balsera, E., Aguilar-Alonso, E., Hinojosa, R., Gordillo-Brenes, A., Arboleda-Sánchez, J. A., Skorniakov, I., Vikulova, D., Whiteley, C., Shaikh, O., Jones, A., Ostermann, M., Forni, L., Scott, M., Sahatjian, J., Linde-Zwirble, W., Hansell, D., Laoveeravat, P., Srisawat, N., Kongwibulwut, M., Peerapornrattana, S., Suwachittanont, N., Wirotwan, T. O., Chatkaew, P., Saeyub, P., Latthaprecha, K., Tiranathanagul, K., Eiam-ong, S., Kellum, J. A., Berthelsen, R. E., Perner, A., Jensen, A. E. K., Jensen, J. U., Bestle, M. H., Gebhard, D. J., Price, J., Kennedy, C. E., Akcan-Arikan, A., Liberatore, A. M. A., Souza, R. B., Martins, A. M. C. R. P. F., Vieira, J. C. F., Kang, Y. R., Nakamae, M. N., Koh, I. H. J., Hamed, K., Khaled, M. M., Soliman, R. Aly, Mokhtar, M. Sherif, Seller-Pérez, G., Arias-Verdú, D., Llopar-Valdor, E., De-Diós-Chacón, I., Quesada-García, G., Herrera-Gutierrez, M. E., Hafes, R., Carroll, G., Doherty, P., Wright, C., Vera, I. G. Guerra, Ralston, M., Gemmell, M. L., MacKay, A., Black, E., Wright, C., Docking, R. I., Appleton, R., Ralston, M. R., Gemmell, L., Appleton, R., Wright, C., Docking, R. I., Black, E., Mackay, A., Rozemeijer, S., Mulier, J. L. G. Haitsma, Röttgering, J. G., Elbers, P. W. G., Spoelstra-de Man, A. M. E., Tuinman, P. R., de Waard, M. C., Oudemans-van Straaten, H. M., Mejeni, N., Nsiala, J., Kilembe, A., Akilimali, P., Thomas, G., Egerod, I., Andersson, A. E., Fagerdahl, A. M., Knudsen, V., Meddeb, K., Cheikh, A. Ben, Hamdaoui, Y., Ayachi, J., Guiga, A., Fraj, N., Romdhani, S., Sma, N., Bouneb, R., Chouchene, I., Khedher, A., Bouafia, N., Boussarsar, M., Amirian, A., Ziaian, B., Masjedi, M., Fleischmann, C., Thomas-Rueddel, D. O., Schettler, A., Schwarzkopf, D., Stacke, A., Reinhart, K., Filipe, E., Escoval, A., Martins, A., Sousa, P., Velez, N., Viegas, E., Tomas, E., Snell, G., Matsa, R., Paary, T. T. S., Kalaiselvan, M. S., Cavalheiro, A. M., Rocha, L. L., Vallone, C. S., Tonilo, A., Lobato, M. D. S., Malheiro, D. T., Sussumo, G., Lucino, N. M., Zand, F., Rosenthal, V. D., Masjedi, M., Sabetian, G., Maghsudi, B., Ghorbani, M., Dashti, A. Sanaei, Yousefipour, A., Goodall, J. R., Williamson, M., Tant, E., Thomas, N., Balci, C., Gonen, C., Haftacı, E., Gurarda, H., Karaca, E., Paldusová, B., Zýková, I., Šímová, D., Houston, S., D’Antona, L., Lloyd, J., Garnelo-Rey, V., Sosic, M., Sotosek-Tokmazic, V., Kuharic, J., Antoncic, I., Dunatov, S., Sustic, A., Chong, C. T., Sim, M., Lyovarin, T., Díaz, F. M. Acosta, Galdó, S. Narbona, Garach, M. Muñoz, Romero, O. Moreno, Bailón, A. M. Pérez, Pinel, A. Carranza, Colmenero, M., Gritsan, A., Gazenkampf, A., Korchagin, E., Dovbish, N., Lee, R. M., Lim, M. P. P., Chong, C. T., Lim, B. C. L., See, J. J., Assis, R., Filipe, F., Lopes, N., Pessoa, L., Pereira, T., Catorze, N., Aydogan, M. S., Aldasoro, C., Marchio, P., Jorda, A., Mauricio, M. D., Guerra-Ojeda, S., Gimeno-Raga, M., Colque-Cano, M., Bertomeu-Artecero, A., Aldasoro, M., Valles, S. L., Tonon, D., Triglia, T., Martin, J. C., Alessi, M. C., Bruder, N., Garrigue, P., Velly, L., Spina, S., Scaravilli, V., Marzorati, C., Colombo, E., Savo, D., Vargiolu, A., Cavenaghi, G., Citerio, G., Andrade, A. H. V., Bulgarelli, P., Araujo, J. A. P., Gonzalez, V., Souza, V. A., Costa, A., Massant, C., Filho, C. A. C. Abreu, Morbeck, R. A., Burgo, L. E., van Groenendael, R., van Eijk, L. T., Leijte, G. P., Koeneman, B., Kox, M., Pickkers, P., García-de la Torre, A., de la Torre-Prados, M., Fernández-Porcel, A., Rueda-Molina, C., Nuevo-Ortega, P., Tsvetanova-Spasova, T., Cámara-Sola, E., García-Alcántara, A., Salido-Díaz, L., Liao, X., Feng, T., Zhang, J., Cao, X., Wu, Q., Xie, Z., Li, H., Kang, Y., Winkler, M. S., Nierhaus, A., Mudersbach, E., Bauer, A., Robbe, L., Zahrte, C., Schwedhelm, E., Kluge, S., Zöllner, C., Morton, B., Mitsi, E., Pennington, S. H., Reine, J., Wright, A. D., Parker, R., Welters, I. D., Blakey, J. D., Rajam, G., Ades, E. W., Ferreira, D. M., Wang, D., Kadioglu, A., Gordon, S. B., Koch, R., Kox, M., Rahamat-Langedoen, J., Schloesser, J., de Jonge, M., Pickkers, P., Bringue, J., Guillamat-Prats, R., Torrents, E., Martinez, M. L., Camprubí-Rimblas, M., Artigas, A., Blanch, L., Park, S. Y., Park, Y. B., Song, D. K., Shrestha, S., Park, S. H., Koh, Y., Park, M. J., Hong, C. W., Lesur, O., Coquerel, D., Sainsily, X., Cote, J., Söllradl, T., Murza, A., Dumont, L., Dumaine, R., Grandbois, M., Sarret, P., Marsault, E., Salvail, D., Auger-Messier, M., Chagnon, F., Lauretta, M. P., Greco, E., Dyson, A., Singer, M., Preau, S., Ambler, M., Sigurta, A., Saeed, S., Singer, M., Sarıca, L. Topcu, Zibandeh, N., Genc, D., Gul, F., Akkoc, T., Kombak, E., Cinel, L., Akkoc, T., Cinel, I., Pollen, S. J., Arulkumaran, N., Singer, M., Torrance, H. D., Longbottom, E. R., Warnes, G., Hinds, C. J., Pennington, D. J., Brohi, K., O’Dwyer, M. J., Kim, H. Y., Na, S., Kim, J., Chang, Y. F., Chao, A., Shih, P. Y., Lee, C. T., Yeh, Y. C., Chen, L. W., Adriaanse, M., Trogrlic, Z., Ista, E., Lingsma, H., Rietdijk, W., Ponssen, H. H., Schoonderbeek, J. F., Schreiner, F., Verbrugge, S. J., Duran, S., Gommers, D. A. M. P. J., van der Jagt, M., Funcke, S., Sauerlaender, S., Saugel, B., Pinnschmidt, H., Reuter, D. A., Nitzschke, R., Perbet, S., Biboulet, C., Lenoire, A., Bourdeaux, D., Pereira, B., Plaud, B., Bazin, J. E., Sautou, V., Mebazaa, A., Constantin, J. M., Legrand, M., Boyko, Y., Jennum, P., Nikolic, M., Oerding, H., Holst, R., Toft, P., Nedergaard, H. K., Haberlandt, T., Jensen, H. I., Toft, P., Park, S., Kim, S., Cho, Y. J., Lim, Y. J., Chan, A., Tang, S., Nunes, S. L., Forsberg, S., Blomqvist, H., Berggren, L., Sörberg, M., Sarapohja, T., Wickerts, C. J., Hofhuis, J. G. M., Rose, L., Blackwood, B., Akerman, E., Mcgaughey, J., Egerod, I., Fossum, M., Foss, H., Georgiou, E., Graff, H. J., Kalafati, M., Sperlinga, R., Schafer, A., Wojnicka, A. G., Spronk, P. E., Zand, F., Khalili, F., Afshari, R., Sabetian, G., Masjedi, M., Maghsudi, B., Khodaei, H. Haddad, Javadpour, S., Petramfar, P., Nasimi, S., Vazin, A., Ziaian, B., Tabei, H., Gunther, A., Hansen, J. O., Sackey, P., Storm, H., Bernhardsson, J., Sundin, Ø., Bjärtå, A., Bienert, A., Smuszkiewicz, P., Wiczling, P., Przybylowski, K., Borsuk, A., Trojanowska, I., Matysiak, J., Kokot, Z., Paterska, M., Grzeskowiak, E., Messina, A., Bonicolini, E., Colombo, D., Moro, G., Romagnoli, S., De Gaudio, A. R., Corte, F. Della, Romano, S. M., Silversides, J. A., Major, E., Mann, E. E., Ferguson, A. J., Mcauley, D. F., Marshall, J. C., Blackwood, B., Fan, E., Diaz-Rodriguez, J. A., Silva-Medina, R., Gomez-Sandoval, E., Gomez-Gonzalez, N., Soriano-Orozco, R., Gonzalez-Carrillo, P. L., Hernández-Flores, M., Pilarczyk, K., Lubarksi, J., Wendt, D., Dusse, F., Günter, J., Huschens, B., Demircioglu, E., Jakob, H., Palmaccio, A., Dell’Anna, A. M., Grieco, D. L., Torrini, F., Iaquaniello, C., Bongiovanni, F., Antonelli, M., Toscani, L., Antonakaki, D., Bastoni, D., Aya, H. D., Rhodes, A., Cecconi, M., Jozwiak, M., Depret, F., Teboul, J. L., Alphonsine, J., Lai, C., Richard, C., Monnet, X., László, I., Demeter, G., Öveges, N., Tánczos, K., Németh, M., Trásy, D., Kertmegi, I., Érces, D., Tudor, B., Kaszaki, J., Molnár, Z., Hasanin, A., Lotfy, A., El-adawy, A., Nassar, H., Mahmoud, S., Abougabal, A., Mukhtar, A., Quinty, F., Habchi, S., Luzi, A., Antok, E., Hernandez, G., Lara, B., Enberg, L., Ortega, M., Leon, P., Kripper, C., Aguilera, P., Kattan, E., Bakker, J., Huber, W., Lehmann, M., Sakka, S., Bein, B., Schmid, R. M., Preti, J., Creteur, J., Herpain, A., Marc, J., Zogheib, E., Trojette, F., Bar, S., Kontar, L., Titeca, D., Richecoeur, J., Gelee, B., Verrier, N., Mercier, R., Lorne, E., Maizel, J., Dupont, H., Slama, M., Abdelfattah, M. E., Eladawy, A., Elsayed, M. A. Ali, Mukhtar, A., Montenegro, A. Pedraza, Zepeda, E. Monares, Granillo, J. Franco, Sánchez, J. S. Aguirre, Alejo, G. Camarena, Cabrera, A. Rugerio, Montoya, A. A. Tanaka, Lee, C., Hatib, F., Cannesson, M., Theerawit, P., Morasert, T., Sutherasan, Y., Zani, G., Mescolini, S., Diamanti, M., Righetti, R., Scaramuzza, A., Papetti, M., Terenzoni, M., Gecele, C., Fusari, M., Hakim, K. A., Chaari, A., Ismail, M., Elsaka, A. H., Mahmoud, T. M., Bousselmi, K., Kauts, V., Casey, W. F., Hutchings, S. D., Naumann, D., Wendon, J., Watts, S., Kirkman, E., Jian, Z., Buddi, S., Lee, C., Settels, J., Hatib, F., Pinsky, M. R., Bertini, P., Guarracino, F., Trepte, C., Richter, P., Haas, S. A., Eichhorn, V., Kubitz, J. C., Reuter, D. A., Soliman, M. S., Hamimy, W. I., Fouad, A. Z., Mukhtar, A. M., Charlton, M., Tonks, L., Mclelland, L., Coats, T. J., Thompson, J. P., Sims, M. R., Williams, D., Roushdy, D. Z., Soliman, R. A., Nahas, R. A., Arafa, M. Y., Hung, W. T., Chiang, C. C., Huang, W. C., Lin, K. C., Lin, S. C., Cheng, C. C., Kang, P. L., Wann, S. 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W., Kaymak, C., Okumus, N., Sari, A., Erdogdu, B., Aksun, S., Basar, H., Ozcan, A., Ozcan, N., Oztuna, D., Malmgren, J. A., Lundin, S., Torén, K., Eckerström, M., Wallin, A., Waldenström, A. C., Riccio, F. C., Pogson, D., Antonio, A. C. P., Leivas, A. F., Kenji, F., James, E., Morgan, P., Carroll, G., Gemmell, L., MacKay, A., Wright, C., Ballantyne, J., Jonnada, S., Gerrard, C. S., Jones, N., Salciccioli, J. D., Marshall, D. C., Komorowski, M., Hartley, A., Sykes, M. C., Goodson, R., Shalhoub, J., Villanueva, J. R. Fernández, Garda, R. Fernández, Lago, A. M. López, Ruiz, E. Rodríguez, Vaquero, R. Hernández, Rodríguez, C. Galbán, Pérez, E. Varo, Hilasque, C., Oliva, I., Sirgo, G., Martin, M. C., Olona, M., Gilavert, M. C., Bodí, M., Ebm, C., Aggarwal, G., Huddart, S., Quiney, N., Cecconi, M., Fernandes, S. M., Silva, J. Santos, Gouveia, J., Silva, D., Marques, R., Bento, H., Alvarez, A., Silva, Z. Costa, Diaz, D. Díaz, Martínez, M. Villanova, Herrejon, E. Palencia, de la Gandara, A. Martinez, Gonzalo, G., Lopez, M. A., de Gopegui Miguelena, P. Ruíz, Matilla, C. I. Bernal, Chueca, P. Sánchez, Longares, M. D. C. Rodríguez, Abril, R. Ramos, Aguilar, A. L. Ruíz, de Murillas, R. Garrido López, Fernández, R. Fernández, Laborías, P. Morales, Castellanos, M. A. Díaz, Laborías, M. E. Morales, Cho, J., Kim, J., Park, J., Woo, S., West, T., Powell, E., Rimmer, A., Orford, C., Jones, N., Williams, J., Matilla, C. I. Bernal, de Gopegui Miguelena, P. Ruiz, Chueca, P. Sánchez, Abril, R. Ramos, Longares, M. D. C. Rodríguez, Aguilar, A. L. Ruíz, de Murillas, R. Garrido López, Bourne, R. S., Shulman, R., Tomlin, M., Mills, G. H., Borthwick, M., Berry, W., Huertas, D. García, Manzano, F., Villagrán-Ramírez, F., Ruiz-Perea, A., Rodríguez-Mejías, C., Santiago-Ruiz, F., Colmenero-Ruiz, M., König, C., Matt, B., Kortgen, A., Hartog, C. S., Wong, A., Balan, C., Barker, G., Srisawat, N., Peerapornratana, S., Laoveeravat, P., Tachaboon, S., Eiam-ong, S., Paratz, J., Kayambu, G., Boots, R., Arzapalo, M. F. Aguilar, Vlasenko, R., Gromova, E., Loginov, S., Kiselevskiy, M., Dolgikova, Y., Tang, K. B., Chau, C. M., Lam, K. N., Gil, E., Suh, G. Y., Park, C. M., Park, J., Chung, C. R., Lee, C. T., Chao, A., Shih, P. Y., Chang, Y. F., Lai, C. H., Hsu, Y. C., Yeh, Y. C., Cheng, Y. J., Colella, V., Zarrillo, N., D’Amico, M., Forfori, F., Pezza, B., Laddomada, T., Beltramelli, V., Pizzaballa, M. L., Doronzio, A., Balicco, B., Kiers, D., van der Heijden, W., Gerretsen, J., de Mast, Q., el Messaoudi, S., Rongen, G., Gomes, M., Kox, M., Pickkers, P., Riksen, N. P., Kashiwagi, Y., Okada, M., Hayashi, K., Inagaki, Y., Fujita, S., Nakamae, M. N., Kang, Y. R., Souza, R. B., Liberatore, A. M. A., Koh, I. H. J., Blet, A., Sadoune, M., Lemarié, J., Bihry, N., Bern, R., Polidano, E., Merval, R., Launay, J. M., Lévy, B., Samuel, J. L., Mebazaa, A., Hartmann, J., Harm, S., and Weber, V.

Published
2016
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28. Malignant mesothelioma due to non-occupational asbestos exposure from the Italian national surveillance system (ReNaM): epidemiology and public health issues

Author

Marinaccio, Alessandro, Binazzi, Alessandra, Bonafede, Michela, Corfiati, Marisa, Di Marzio, Davide, Scarselli, Alberto, Verardo, Marina, Mirabelli, Dario, Gennaro, Valerio, Mensi, Carolina, Schallemberg, Gert, Merler, Enzo, Negro, Corrado, Romanelli, Antonio, Chellini, Elisabetta, Silvestri, Stefano, Cocchioni, Mario, Pascucci, Cristiana, Stracci, Fabrizio, Ascoli, Valeria, Trafficante, Luana, Angelillo, Italo, Musti, Marina, Cavone, Domenica, Cauzillo, Gabriella, Tallarigo, Federico, Tumino, Rosario, Melis, Massimo, Detragiache, E, Merletti, F, Gangemi, M, Stura, A, Brentisci, C, Cammarieri, Diglio G, Macerata, V, Gilardetti, M, Benfatto, L, Bianchelli, M, Mazzucco, G, Consonni, D, Pesatori, AC, Riboldi, L, Bressan, V, Gioffrè, F, Ballarin, MN, Chermaz, C, De Michieli, P, Mangone, L, Storchi, C, Sala, O, Badiali, AM, Cacciarini, V, Giovannetti, L, Martini, A, Calisti, R, La, Rosa F, DʼAlo’, D, Petrucci, MS, Davoli, M, Forastiere, F, Cavariani, F, Romeo, E, Ancona, L, Di Giammarco, A, Menegozzo, S, Canfora, ML, Santoro, M, Viscardi, F, Brangi, A, Cozza, V, Baldassarre, A, Lio, S, Nicita, C, Dardanoni, G, Scondotto, S, Nieddu, V, Pergola, M, and Stecchi, S

Published
2015
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30. Noninvasive ventilation in chest trauma: systematic review and meta-analysis

Author

Chiumello, D., Coppola, S., Froio, S., Gregoretti, C., and Consonni, D.

Subjects
Medical research -- Comparative analysis -- Health aspects, Medicine, Experimental -- Comparative analysis -- Health aspects, Mortality -- United Kingdom, Acute respiratory distress syndrome -- Health aspects -- Comparative analysis, Health care industry
Abstract

Purpose Single studies of Noninvasive Ventilation (NIV) in the management of acute respiratory failure in chest trauma patients have produced controversial findings. The aim of this study is to critically review the literature to investigate whether NIV reduces mortality, intubation rate, length of stay and complications in patients with chest trauma, compared to standard therapy. Methods We performed a systematic review and meta-analysis of randomized controlled trials, prospective and retrospective observational studies, by searching PubMed, EMBASE and bibliographies of articles retrieved. We screened for relevance studies that enrolled adults with chest trauma who developed mild to severe acute respiratory failure and were treated with NIV. We included studies reporting at least one clinical outcome of interest to perform a meta-analysis. Results Ten studies (368 patients) met the inclusion criteria and were included for the meta-analysis. Five studies (219 patients) reported mortality and results were quite homogeneous across studies, with a summary relative risk for patients treated with NIV compared with standard care (oxygen therapy and invasive mechanical ventilation) of 0.26 (95 % confidence interval 0.09-0.71, p = 0.003). There was no advantage in mortality of continuous positive airway pressure over noninvasive pressure support ventilation. NIV significantly increased arterial oxygenation and was associated with a significant reduction in intubation rate, in the incidence of overall complications and infections. Conclusions These results suggest that NIV could be useful in the management of acute respiratory failure due to chest trauma., Author(s): D. Chiumello [sup.1] [sup.2], S. Coppola [sup.1], S. Froio [sup.1], C. Gregoretti [sup.3], D. Consonni [sup.4] Author Affiliations: (1) grid.414818.0, 0000000417578749, Dipartimento di Anestesia, Rianimazione (Intensiva e Subintensiva) e [...]

Published
2013
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32. Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family

Author

Brown, K. M., Xu, M., Sargen, M., Jang, H., Zhang, M., Zhang, T., Zhu, B., Jones, K., Kim, J., Mendoza, L., Hayward, N. K., Tucker, M. A., Goldstein, A. M., Yang, X. R., Stewart, D. R., Hicks, B., Consonni, D., Pesatori, A. C., Fargnoli, Maria Concetta, Peris, Ketty, Stratigos, A., Menin, C., Ghiorzo, P., Puig, S., Nagore, E., Andresson, T., Nussinov, R., Calista, D., Landi, M. T., Fargnoli M. C., Peris K. (ORCID:0000-0002-5237-0463), Brown, K. M., Xu, M., Sargen, M., Jang, H., Zhang, M., Zhang, T., Zhu, B., Jones, K., Kim, J., Mendoza, L., Hayward, N. K., Tucker, M. A., Goldstein, A. M., Yang, X. R., Stewart, D. R., Hicks, B., Consonni, D., Pesatori, A. C., Fargnoli, Maria Concetta, Peris, Ketty, Stratigos, A., Menin, C., Ghiorzo, P., Puig, S., Nagore, E., Andresson, T., Nussinov, R., Calista, D., Landi, M. T., Fargnoli M. C., and Peris K. (ORCID:0000-0002-5237-0463)

Abstract

While several high-penetrance melanoma risk genes are known, variation in these genes fail to explain melanoma susceptibility in a large proportion of high-risk families. As part of a melanoma family sequencing study, including 435 families from Mediterranean populations we identified a novel NRAS variant (c.170A > C, p.D57A) in an Italian melanoma-prone family. This variant is absent in exomes in gnomAD, ESP, UKBiobank, and the 1000 Genomes Project, as well as in 11,273 Mediterranean individuals and 109 melanoma-prone families from the US and Australia. This variant occurs in the GTP-binding pocket of NRAS. Differently from other RAS activating alterations, NRAS D57A expression is unable to activate MAPK-pathway both constitutively and after stimulation but enhances EGF-induced PI3K-pathway signaling in serum starved conditions in vitro. Consistent with in vitro data demonstrating that NRAS D57A does not enrich GTP binding, molecular modeling suggests that the D57A substitution would be expected to impair Mg2 + binding and decrease nucleotide-binding and GTPase activity of NRAS. While we cannot firmly establish NRAS c.170A > C (p.D57A) as a melanoma susceptibility variant, further investigation of NRAS as a familial melanoma gene is warranted.

Published
2021

33. A morphological classification of the fat particles found in the urinary sediment of patients with Fabry disease

Author

Fogazzi, G, Garigali, G, Pieruzzi, F, Corbelli, A, Fiordaliso, F, Consonni, D, Messa, P, Fogazzi, Giovanni B, Garigali, Giuseppe, Pieruzzi, Federico, Corbelli, Alessandro, Fiordaliso, Fabio, Consonni, Dario, Messa, Piergiorgio, Fogazzi, G, Garigali, G, Pieruzzi, F, Corbelli, A, Fiordaliso, F, Consonni, D, Messa, P, Fogazzi, Giovanni B, Garigali, Giuseppe, Pieruzzi, Federico, Corbelli, Alessandro, Fiordaliso, Fabio, Consonni, Dario, and Messa, Piergiorgio

Abstract

Objectives: The search in the urinary sediment (U-sed) of fat particles with peculiar morphology is a simple and inexpensive tool for the diagnosis of Fabry disease (FD) nephropathy. In this study we investigated the morphology of a high number of such fat particles with the aim to obtain a morphological classification to be used for their identification. Methods: Study of the morphology of fat particles in the U-sed of a cohort of FD patients using: Bright field plus phase contrast microscopy (BF + PC), polarized light microscopy (POL), and transmission electron microscopy (TEM). Comparison of these results with those obtained for the fat particles seen in the U-sed of a control group (CG) of patients with non-FD glomerulopathies. Results: FD: 18 U-sed from six patients (three samples/patient) were prospectively investigated and 506 fat particles identified. With BF + PC, these were classified in eight morphological categories (seven of which were confirmed by TEM), and with POL in 10 others. CG: Eight U-sed from eight patients were investigated and 281 fat particles identified. These fell into four BF + PC morphological categories and into eight POL categories. While some categories were significantly more frequent in FD others were more frequent in the CG. Conclusions: Our study demonstrates that 1. The morphology of fat particles found in the U-sed of FD patients is much wider and complex than that described so far 2. Several significant differences exist in the morphology of such fat particles between FD and CG patients.

Published
2021

36. Signals in communication engineering history

Author

Consonni, D. and Silva, M.T.M.

Subjects
Engineering students -- Education, Frequency modulation -- Usage, Signal theory (Telecommunication) -- Analysis, Business, Education, Electronics, Electronics and electrical industries
Published
2010

37. Position Paper on Asbestos of the Italian Society of Occupational Medicine

Author

Apostoli P., Boffetta P., Bovenzi M., Cocco P. L., Consonni D., Cristaudo A., Discalzi G., Farioli A., Manno M., Mattioli S., Pira E., Soleo L., Taino G., Violante F. S., Zocchetti C., Apostoli P., Boffetta P., Bovenzi M., Cocco P.L., Consonni D., Cristaudo A., Discalzi G., Farioli A., Manno M., Mattioli S., Pira E., Soleo L., Taino G., Violante F.S., and Zocchetti C.

Subjects
Amianto, Mesothelioma, Asbestos, Position Paper, SIML, Occupational Medicine, Lung Neoplasms, Pleural Neoplasms, SIML, Asbestosi, Asbesto, Asbestos, NO, Lung Neoplasm, Italy, Retrospective Studie, Amianto, Position Paper, SIML, Occupational Exposure, Asbestosis, Position Paper, Humans, Retrospective Studies, Human
Abstract

The Position Paper (PP) on asbestos of the Italian Society of Occupational Medicine (SIML) aims at providing a tool to the occupational physician to address current diagnostic criteria and results of epidemiological studies, and their consequences in terms of preventive and evaluation actions for insurance, compensation and litigation. The PP was based on an extensive review of the scientific literature and was compiled by a Working Group comprising researchers who have contributed to the international literature on asbestos-related diseases, as well as occupational physicians with extensive experience in the evaluation of risks and the medical surveillance of workers currently and formerly exposed to asbestos. The PP was drafted and reviewed between 2017 and 2018; its final version was prepared according to the guidelines of AGREE Reporting Checklist. All the members of the Working Group subscribed to the document, which was eventually approved by SIML’s Executive Committee. The first section addresses industrial hygiene issues, such as methods for environmental monitoring, advantages and limitations of different microscopy techniques, the potential role of microfibers and approaches for retrospective assessment of exposure, in particular in epidemiological studies. The second section reviews the biological effects of asbestos with particular attention to the diagnostic aspects of asbestosis, pleural changes, mesothelioma and lung cancer. In the following section the criteria of causal attribution are discussed, together with different hypotheses on the form of the risk functions, with a comparison of the opinions prevalent in the literature. In particular, the models of the risk function for mesothelioma were examined, in the light of the hypothesis of an acceleration or anticipation of the events in relation to the dose. The last section discusses topics of immediate relevance for the occupational physician, such as health surveillance of former exposed and of workers currently exposed in remediation activities.

Published
2019

38. Position Paper Amianto. Società Italiana di Medicina del Lavoro

Author

Apostoli, P, Boffetta, P, Bovenzi, M, Cocco, Pl, Consonni, D, Cristaudo, A, Discalzi, G, Farioli, A, Manno, M, Mattioli, S, Pira, E, Soleo, L, Taino, G, Violante, Fs, Zocchetti, C, Apostoli, P, Boffetta, P, Bovenzi, M, Cocco, Pl, Consonni, D, Cristaudo, A, Discalzi, G, Farioli, A, Manno, M, Mattioli, S, Pira, E, Soleo, L, Taino, G, Violante, F, and Zocchetti, C

Subjects
Amianto, SIML, Position Paper
Abstract

Il Position Paper SIML dedicato all’asbesto si propone di offrire uno strumento che consenta al Medico Competente un rapido orientamento sui criteri diagnostici attuali e sui risultati della ricerca epidemiologica con le conseguenti indicazioni per l’azione preventiva e di valutazione in contesti previdenziali, assicurativi e medico-legali. Par- tendo da una ampia revisione della letteratura scientifica in argomento e, nel corso delle riunioni del Gruppo di lavoro, costituito sia da ricercatori che hanno fornito un apporto di livello internazionale sul tema delle patologie asbesto-correlate sia da Medici del Lavoro con ampia esperienza nella valutazione del rischio e nella sorveglianza sanitaria di esposti ed ex-esposti ad amianto, sono stati discussi tra il 2017 ed il 2018 i diversi argomenti trattati con ampie e ripetute revisioni del testo. La versione definitiva è stata sottoposta alla valutazione abituale per le Linee Guida secondo lo standard metodologico AGREE. Il documento, su cui si è registrato l’unanime consenso del Gruppo di Lavoro ed è stato successivamente approvato dal Direttivo Nazionale della Società, si articola in alcune principali sezioni. La prima riguarda gli argomenti propri dell’Igiene Industriale quali le metodiche per il monitoraggio ambientale, i vantaggi e i limiti delle tecniche microscopiche disponibili, il potenziale ruolo delle mi- crofibre e gli approcci per la valutazione retrospettiva dell’esposizione, specialmente a fini epidemiologici. La secon- da gli effetti biologici da amianto con particolare attenzione agli aspetti diagnostici dell’asbestosi, delle alterazioni pleuriche, del mesotelioma e del tumore del polmone. La terza i criteri di attribuzione causale e discusse le diverse ipotesi sulla forma delle funzioni di rischio, vengono confrontate le principali posizioni al riguardo disponibili in letteratura. In particolare sono stati approfonditi i modelli della funzione di rischio per il mesotelioma ed affron- tato il tema dell’ipotesi di un effetto acceleratore e anticipazione della frequenza degli eventi in relazione alla dose. Infine sono stati trattati gli argomenti di attualità applicativa per il Medico Competente quali la sorveglianza sanitaria degli ex esposti ad amianto e di quella degli operatori attualmente esposti in attività di bonifica.

Published
2019

40. Recommendations for implementing lung cancer screening with low-dose computed tomography in Europe

Author

Veronesi, G. (Giulia), Baldwin, P.J. (Peter), Henschke, C.I. (Claudia I.), Ghislandi, S. (Simone), Iavicoli, S. (Sergio), Oudkerk, M. (Matthijs), Koning, H.J. (Harry) de, Shemesh, J. (Joseph), Field, J.K. (John), Zulueta, J.J. (Javier J.), Horgan, J.H., Navarrete, L.F. (Lucia Fiestas), Infante, J. (Jon), Novellis, P. (Pierluigi), Murray, R.L. (Rachael L.), Peled, N. (Nir), Rampinelli, C. (Cristiano), Rocco, G. (Gaetano), Witold, R. (Rzyman), Scagliotti, G.V. (Giorgio), Tammemagi, M.C. (Martin), Bertolaccini, L. (Luca), Triphuridet, N. (Natthaya), Yip, R. (Rowena), Rossi, A.G. (Adriano), Senan, S. (Suresh), Ferrante, G. (Giuseppe), Brain, K. (Kate), Aalst, C.M. (Carlijn) van der, Bonomo, L. (Lorenzo), Consonni, D. (Dario), Meerbeeck, J.P. (Jan) van, Maisonneuve, P. (Patrick), Novello, S. (Silvia), Devaraj, A. (Anand), Saghir, Z. (Zaigham), Pelosi, G. (Giuseppe), Veronesi, G. (Giulia), Baldwin, P.J. (Peter), Henschke, C.I. (Claudia I.), Ghislandi, S. (Simone), Iavicoli, S. (Sergio), Oudkerk, M. (Matthijs), Koning, H.J. (Harry) de, Shemesh, J. (Joseph), Field, J.K. (John), Zulueta, J.J. (Javier J.), Horgan, J.H., Navarrete, L.F. (Lucia Fiestas), Infante, J. (Jon), Novellis, P. (Pierluigi), Murray, R.L. (Rachael L.), Peled, N. (Nir), Rampinelli, C. (Cristiano), Rocco, G. (Gaetano), Witold, R. (Rzyman), Scagliotti, G.V. (Giorgio), Tammemagi, M.C. (Martin), Bertolaccini, L. (Luca), Triphuridet, N. (Natthaya), Yip, R. (Rowena), Rossi, A.G. (Adriano), Senan, S. (Suresh), Ferrante, G. (Giuseppe), Brain, K. (Kate), Aalst, C.M. (Carlijn) van der, Bonomo, L. (Lorenzo), Consonni, D. (Dario), Meerbeeck, J.P. (Jan) van, Maisonneuve, P. (Patrick), Novello, S. (Silvia), Devaraj, A. (Anand), Saghir, Z. (Zaigham), and Pelosi, G. (Giuseppe)

Abstract

Lung cancer screening (LCS) with low-dose computed tomography (LDCT) was demonstrated in the National Lung Screening Trial (NLST) to reduce mortality from the disease. European mortality data has recently become available from the Nelson randomised controlled trial, which confirmed lung cancer mortality reductions by 26% in men and 39–61% in women. Recent studies in Europe and the USA also showed positive results in screening workers exposed to asbestos. All European experts attending the “Initiative for European Lung Screening (IELS)”—a large international group of physicians and other experts concerned with lung cancer—agreed that LDCT-LCS should be implemented in Europe. However, the economic impact of LDCT-LCS and guidelines for its effective and safe implementation still need to be formulated. To this purpose, the IELS was asked to prepare recommendations to implement LCS and examine outstanding issues. A subgroup carried out a comprehensive literature review on LDCT-LCS and presented findings at a meeting held in Milan in November 2018. The present recommendations reflect that consensus was reached.

Published
2020
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41. Neurotensin up-regulation is associated with advanced fibrosis and hepatocellular carcinoma in patients with MAFLD

Author

Dongiovanni, P., Meroni, M., Petta, S., Longo, M., Alisi, A., Soardo, G., Valenti, L., Miele, Luca, Grimaudo, S., Pennisi, G., Antonio, G., Consonni, D., Fargion, S., Fracanzani, A. L., Miele L. (ORCID:0000-0003-3464-0068), Dongiovanni, P., Meroni, M., Petta, S., Longo, M., Alisi, A., Soardo, G., Valenti, L., Miele, Luca, Grimaudo, S., Pennisi, G., Antonio, G., Consonni, D., Fargion, S., Fracanzani, A. L., and Miele L. (ORCID:0000-0003-3464-0068)

Abstract

Background & aims: Neurotensin (NTS), a 13-aminoacid peptide localized in central nervous system and gastrointestinal tract, is involved in lipid metabolism and promotes various cancers onset mainly by binding to neurotensin receptor 1 (NTSR1). Increased plasma levels of pro-NTS, the stable NTS precursor, have been associated with type 2 diabetes (T2D), cardiovascular diseases and metabolic associated fatty liver disease (MAFLD). We aimed to evaluate 1) the impact of NTS rs1800832 and NTSR1 rs6090453 genetic variants on liver damage in 1166 MAFLD European individuals, 2) the relation between NTS variant and circulating pro-NTS and 3) the hepatic NTS expression by RNAseq transcriptomic analysis in 125 bariatric patients. Results: The NTS rs1800832 G allele was associated with hepatic fibrosis (OR 1.27, 95% confidence interval (CI). 1.02–1.58; p = 0.03), even more in carriers of both NTS and NTSR1 G risk alleles (OR 1.17, 95% CI. 1.03–1.34; p = 0.01), with cirrhosis (OR 1.58, 95% CI. 1.07–2.34; p = 0.02) and HCC (OR 1.98, 95% CI. 1.24–3.2; p = 0.004). Pro-NTS circulating levels were correlated with T2D (p = 0.005), BMI, (p = 0.04), age (p = 0.0016), lobular inflammation (p = 0.0025), fibrosis>2 (p < 0.0001), cirrhosis (p = 0.0009) and HCC (p < 0.0001) and more so after stratification for the NTS G allele. Transcriptomic data showed that hepatic NTS expression correlated with that of fibrogenic genes (p < 0.05). Conclusions: NTS rs1800832 variant is associated with advanced fibrosis and HCC in MAFLD patients likely affecting NTS protein activity. The rs6090453 NTSR1 gene variant synergizes with NTS rs1800832 mutation to promote liver damage. Prospective studies are necessary to confirm NTS role in liver disease progression.

Published
2020

42. Recommendations for Implementing Lung Cancer Screening with Low-Dose Computed Tomography in Europe

Author

Veronesi, G, Baldwin, DR, Henschke, CI, Ghislandi, S, Iavicoli, S, Oudkerk, M, de Koning, Harry, Shemesh, J, Field, JK, Zulueta, JJ, Horgan, D, Navarrete, LF, Infante, MV, Novellis, P, Murray, RL, Peled, N, Rampinelli, C, Rocco, G, Rzyman, W, Scagliotti, GV, Tammemagi, MC, Bertolaccini, L, Triphuridet, N, Yip, R, de Rossi, A, Senan, S, Ferrante, G, Brain, K, van der Aalst, Carlijn, Bonomo, L, Consonni, D, van Meerbeeck, JP, Maisonneuve, P, Novello, S, Devaraj, A, Saghir, Z, Pelosi, G, Veronesi, G, Baldwin, DR, Henschke, CI, Ghislandi, S, Iavicoli, S, Oudkerk, M, de Koning, Harry, Shemesh, J, Field, JK, Zulueta, JJ, Horgan, D, Navarrete, LF, Infante, MV, Novellis, P, Murray, RL, Peled, N, Rampinelli, C, Rocco, G, Rzyman, W, Scagliotti, GV, Tammemagi, MC, Bertolaccini, L, Triphuridet, N, Yip, R, de Rossi, A, Senan, S, Ferrante, G, Brain, K, van der Aalst, Carlijn, Bonomo, L, Consonni, D, van Meerbeeck, JP, Maisonneuve, P, Novello, S, Devaraj, A, Saghir, Z, and Pelosi, G

Published
2020

43. A bio-psycho-social approach in elderly population: outcome of adapted physical activity in patients with osteoarthritis

Author

Panella, L., Incorvaia, C., Caserta, A. V., Amata, O., Consonni, D., Pessina, L., Leo, G., Caselli, I., and Callegari, C.

Subjects
Aged, 80 and over, Male, Adapted physical activity, Elderly, Osteoarthritis, Pain intensity, Physical exercise, Aged, Exercise, Exercise Therapy, Female, Frail Elderly, Humans, Middle Aged, 80 and over
Abstract

The beneficial effect of physical activity on a large spectrum of diseases is well known, with particular importance for elderly people. Among the different types of activity, adapted physical activity (APA) has been applied in a number of disease-related physical deficit.The purpose of this study is to determine the outcome of a six months APA program in elder patients with osteoarthritis concerning physical and functional health and as second endpoint to determine the potential effect of AFA on reducing the risk of institutionalization.The clinical indexes used to assess the outcome included the Blaylock Risk Assessment Screening Score (BRASS), the Psychological General Well Being Index (PGWBI), the Cumulative Illness Rating Scale (CIRS), the Short Physical Performance Battery (SPPB), and the visual analogue scale (VAS).A significant difference (p = 0.047) between the pre-APA and the post-APA value was found for BRASS, and highly significant differences (p0.0001) were found for SPBB and VAS.These findings show that a six months APA program in elder patients with osteoarthritis improves physical function, reduces pain intensity and decreases the risk of institutionalization. Moreover the positive outcome of APA we found in elder patients with osteoarthritis suggests a more frequent use of such rehabilitation approach, also evaluating its economic impact on this disease.

Published
2019

50. The effect of delayed umbilical cord clamping on cord blood gas analysis in vaginal and caesarean‐delivered term newborns without fetal distress: a prospective observational study

Author

Giovannini, N, primary, Crippa, BL, additional, Denaro, E, additional, Raffaeli, G, additional, Cortesi, V, additional, Consonni, D, additional, Cetera, GE, additional, Parazzini, F, additional, Ferrazzi, E, additional, Mosca, F, additional, and Ghirardello, S, additional

Published
2019
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