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2. A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

Author

Concolino, Paola, Tartaglione, Linda, De Paolis, Elisa, Carrozza, Cinzia, Urbani, Andrea, Minucci, Angelo, Pitocco, Dario, Santonocito, Concetta, Concolino P., Tartaglione L., De Paolis E., Carrozza C. (ORCID:0000-0003-1045-0470), Urbani A. (ORCID:0000-0001-9168-3174), Minucci A., Pitocco D. (ORCID:0000-0002-6220-686X), Santonocito C. (ORCID:0000-0003-3624-1386), Concolino, Paola, Tartaglione, Linda, De Paolis, Elisa, Carrozza, Cinzia, Urbani, Andrea, Minucci, Angelo, Pitocco, Dario, Santonocito, Concetta, Concolino P., Tartaglione L., De Paolis E., Carrozza C. (ORCID:0000-0003-1045-0470), Urbani A. (ORCID:0000-0001-9168-3174), Minucci A., Pitocco D. (ORCID:0000-0002-6220-686X), and Santonocito C. (ORCID:0000-0003-3624-1386)

Abstract

Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY. GCK gene, encoding the glucokinase enzyme, was the first MODY gene to be identified. GCK heterozygous inactivating variants cause the GCK-MODY or MODY2 subtype. However, partial or whole gene deletions have been rarely identified, showing it to be a rare cause of GCK-MODY. We reported the molecular evaluation of a Ukrainian patient with clinical diagnosis of MODY2. We performed the Next generation sequencing of the clinical exome using the Clinical Exome Solution® kit (SOPHiA Genetics), followed by the design of a 14 genes virtual panel related to the suggestive diagnosis of MODY. Bioinformatics analysis was performed using the SOPHiA DDM platform (SOPHiA Genetics). The SALSA MLPA kit for MODY (MRC-Holland) was used for relative quantification of GCK exons. From the molecular evaluation, no pathogenic sequence variants were detected in the investigated genes. Copy Number Variation analysis was able to identify a large deletion involving the last three exons of the GCK gene. This result was confirmed by MLPA. To the best of our knowledge, the identified rearrangement has never been reported in the literature.

Published
2022

3. Synthesis of sulfur-rich polymers: Copolymerization of cyclohexene sulfide and carbon disulfide using chromium complexes

Author

Silvano, S, Carrozza, C, de Angelis, A, Tritto, I, Boggioni, L, Losio, S, Silvano S., Carrozza C. F., de Angelis A. R., Tritto I., Boggioni L., Losio S., Silvano, S, Carrozza, C, de Angelis, A, Tritto, I, Boggioni, L, Losio, S, Silvano S., Carrozza C. F., de Angelis A. R., Tritto I., Boggioni L., and Losio S.

Abstract

An investigation of the copolymerization of cyclohexene sulfide and carbon disulfide using salphen and salen Cr complexes as catalysts and [PPN]+X- salts as cocatalysts, at different temperatures and reaction times, is reported. Both catalytic systems produce both polymer and cyclic products. For the first time, poly(trithiocyclohexylcarbonates) (PCS) have been synthetized in high yields and high molecular weights. Salphen-based catalysts, in comparison with salen-based ones, show higher productivity and selectivity for polymers with high molecular weight up to 18 kg/mol when the reaction is carried out at 25 °C. At a higher temperature with (salphen)CrCl, the maximum value of selectivity for copolymers (72%) was obtained at a short reaction time (3 h). At long reaction times, great amounts of cyclic by-product are observed, thus evidencing the tendency for cyclohexene sulfide and CS2 to provide cyclic products due to the stability of the trithiocyclohexylcarbonate. PCS possesses high refractive index (n > 1.72), and antimicrobial assays reveal that these materials are active against Escherichia coli and moderately active against Staphylococcus aureus. These properties along with the Tg values of 80 °C make these polymers suitable for interesting applications different from those of poly(trithiopropylencarbonate).

Published
2020

4. Cortisol circadian rhythm and jet-lag syndrome: evaluation of salivary cortisol rhythm in a group of eastward travelers

Author

Paragliola, Rosa Maria, Corsello, Andrea, Troiani, Eliana, Locantore, Pietro, Papi, Giampaolo, Donnini, G., Pontecorvi, Alfredo, Corsello, Salvatore Maria, Carrozza, Cinzia, Paragliola R. M. (ORCID:0000-0002-5070-7771), Corsello A., Troiani E., Locantore P., Papi G., Pontecorvi A. (ORCID:0000-0003-0570-6865), Corsello S. M. (ORCID:0000-0002-4544-7274), Carrozza C. (ORCID:0000-0003-1045-0470), Paragliola, Rosa Maria, Corsello, Andrea, Troiani, Eliana, Locantore, Pietro, Papi, Giampaolo, Donnini, G., Pontecorvi, Alfredo, Corsello, Salvatore Maria, Carrozza, Cinzia, Paragliola R. M. (ORCID:0000-0002-5070-7771), Corsello A., Troiani E., Locantore P., Papi G., Pontecorvi A. (ORCID:0000-0003-0570-6865), Corsello S. M. (ORCID:0000-0002-4544-7274), and Carrozza C. (ORCID:0000-0003-1045-0470)

Abstract

Purpose: The activity of the hypothalamus–pituitary–adrenal axis plays a crucial role as an endogenous stress-reactive system. Lifestyle and work often interfere with the endogenous circadian rhythms and can modify the physiological patterns of stress-hormones secretion, including cortisol. We evaluated the cortisol circadian rhythm in the “jet-lag syndrome” that is the most known condition associated with the desynchronization of the circadian rhythm. Methods: To assess the modifications of cortisol secretion after a long-haul flight, we compared baseline and post-travel salivary cortisol rhythm in a group of 28 healthy eastward travelers (from the U.S.A. or Canada to Italy). The salivary samples were collected about 1 week before the departure at 11 p.m. on day 0 and at 8 a.m., 12 a.m. (midday) and 11 p.m. on day 1 (R0). The same samples were obtained after the landing, the day they flew back home (R1). Results: Statistical analysis showed a significant difference between R0 and R1 for each sample considered (p < 0.005). In particular, the post-travel salivary cortisol levels detected at 11 p.m. both on day 0 and on day 1, were significantly higher than at baseline. Post-travel morning salivary cortisol levels were lower compared with basal rhythm and increased during the morning, reaching the acrophase at 12 a.m. Conclusions: In eastward travelers, crossing more than five time zones, the cortisol circadian rhythm after the return to the East “remained behind,” being synchronized with the West time. This impaired cortisol secretion can contribute to the pathogenesis of the jet-lag syndrome.

Published
2021

5. Studio promosso dal Gruppo di Studio Inter-Societario dei Marcatori Cardiaci della Società Italiana di Biochimica Clinica e Biologia Molecolare Clinica (SIBioC) e dalla Sezione Italiana della European Ligand Assay Society (ELAS)

Author

Clerico, A., Zaninotto, M., Masotti, S., Musetti, V., Ripoli, A., Padoan, A., Aloe, R., Rizzardi, S., Dittadi, R., Carrozza, C., Belloni, L., Perrone, M., Fasano, T., Correale, M., Prontera, C., Storti, S., Guiotto, C., Migliardi, M., Bernardini, S., and Plebani, M.

Published
2021

6. A Black Swan in clinical laboratory practice: The analytical error due to interferences in immunoassay methods

Author

Clerico, A., Belloni, L., Carrozza, C., Correale, M., Dittadi, R., Dotti, C., Fortunato, A., Vignati, G., Zucchelli, G. C., Migliardi, M., Carrozza, C. (ORCID:0000-0003-1045-0470), Clerico, A., Belloni, L., Carrozza, C., Correale, M., Dittadi, R., Dotti, C., Fortunato, A., Vignati, G., Zucchelli, G. C., Migliardi, M., and Carrozza, C. (ORCID:0000-0003-1045-0470)

Abstract

It is well known that the results of immunoassay methods can be affected by specific or non-specific interferences, ranging from 0.4% to 4.0%. The presence of interference may greatly compromise the accuracy of immunoassay analyses causing an error in the measurement, producing false-positive or false-negative results. From a clinical point of view, these analytical errors may have serious implications for patient care because they can cause misdiagnosis or inappropriate treatment. Unfortunately, it is a very difficult task to identify the irregular analytical errors related to immunoassay methods because they are not detectable by normal laboratory quality control procedures, are reproducible within the test system, may be clinically plausible and are relatively rare. The first line of defense against erroneous results is to use in laboratory practice only immunoassay systems with the highest level of robustness against interference. The second line of defense is always taking into account the possibility of interference in immunoassay results. A correct approach should be addressed on identification of samples at high risk of interference. The attainment of this goal requires a critical review of the test result in relation to patient's clinical conditions and literature data, taking into account the analytical characteristics of the immunoassay system. The experts in immunoassay systems should make every effort to find some specific and reliable quality indicators for irregular analytical errors in order to better detect and monitor erroneous immunoassay results due to specific or non-specific interferences.

Published
2018

9. Multicenter evaluation of the new immunoassay method for TSH measurement using the automated DxI platform

Author

Dittadi, R., Rizzardi, S., Masotti, S., Prontera, C., Ripoli, A., Fortunato, A., Alfano, A., Carrozza, C., Correale, M., Gessoni, G., Migliardi, M., Zucchelli, G., Clerico, A., Carrozza, C. (ORCID:0000-0003-1045-0470), Dittadi, R., Rizzardi, S., Masotti, S., Prontera, C., Ripoli, A., Fortunato, A., Alfano, A., Carrozza, C., Correale, M., Gessoni, G., Migliardi, M., Zucchelli, G., Clerico, A., and Carrozza, C. (ORCID:0000-0003-1045-0470)

Abstract

Aim of the study: Recently, Beckman Coulter Diagnostics set up a new TSH immunoassay for the automated DxI platform. The aim of this study was to evaluate and compare the analytical performance and clinical results of this method with those of previous method. Material and methods: A multicenter study (named TSH ELAS Study) was organized using 593 serum samples, collected from healthy subjects and patients with thyroid disorders, and 13 control samples, circulated in an External Quality Assessment (EQA) scheme. Results: The values of LoB and LoD, and LoQat 20% CV were 0.0004 mIU/L, 0.001 mIU/L and 0.0023 mIU/L, respectively. Moreover, TSH concentrations >0.01 mIU/L actually show imprecision values lower than 5% CV. This new TSH assay showed a systematic underestimation (on average of 6.25%) compared to old method, which is mainly due to larger differences between methods for samples with low TSH concentrations, related to the better analytical sensitivity of new compared to old method. In a reference population, including 279 apparently healthy adult subjects, Caucasian volunteers (mean age 43.6 years, age 20-63 years, 138 women and 141 males) the distribution of TSH concentrations was: mean (CI 95%) 1.694 mIU/L (1.588-1.779), median 1.495 mIU/L (1.412-1.588 mIU/L), 97.5th percentile 3.707 mIU/L. Conclusions: The new TSH immunoassay for DxI platform shows some relevant improvements compared to the previous one: use of the most recent WHO 3rd IRP 81/563 standard and monoclonal antibodies (instead of poly clonal antibodies of the old method), and better analytical sensitivities and reproducibility. (C) 2017 Elsevier B.V. All rights reserved.

Published
2017

10. Evaluation of 99th percentile and reference change values of the hs-cTnI method using ADVIA Centaur XPT platform: A multicenter study

Author

Clerico, A., Masotti, S., Musetti, V., Ripoli, A., Aloe, R., Di Pietro, M., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Belloni, L., Perrone, M., Fasano, T., Canovi, S., de Santis, A., Prontera, C., Guiotto, C., Cosseddu, D., Migliardi, M., Bernardini, S., Carrozza C. (ORCID:0000-0003-1045-0470), Clerico, A., Masotti, S., Musetti, V., Ripoli, A., Aloe, R., Di Pietro, M., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Belloni, L., Perrone, M., Fasano, T., Canovi, S., de Santis, A., Prontera, C., Guiotto, C., Cosseddu, D., Migliardi, M., Bernardini, S., and Carrozza C. (ORCID:0000-0003-1045-0470)

Abstract

Background: According to quality specifications required by international guidelines, the evaluation of the 99th URL value is a very difficult task that is usually beyond the capacity of a single laboratory. The aims of this article are to report and discuss the results of a multicenter study concerning the evaluation of the 99th percentile URL and reference change (RCV) of the ADVIA Centaur High-Sensitivity Troponin I (TNIH), recently distributed to the Italian clinical laboratories. Materials and methods: The reference population evaluated with ADVIA XPT method for the calculation of cTnI reference distribution parameters consisted of 1325 healthy adults subjects (age range from 18 to 86 years), including 653 women (mean age 50.7 years, SD 14.5 years) and 672 men (mean age 50.9 years, SD 13.8 years), well matched for both age (P =.8112) and sex (F/M = 0.97). Results: cTnI distribution values of reference population was highly skewed, while log-transformed cTnI values roughly approximated a log-normal distribution. Men have higher cTnI values than women throughout all the adult lifespan. Moreover, the subjects with age ≤ 55 years had significantly lower cTnI values than those with age > 55 years (p <.0001). Of note, 62% of women and 77% of men had equal or higher than cTnI values than the LoD value of the method (i.e., 2.2 ng/L). Conclusions: The results of the present study demonstrate that the ADVIA Centaur High-Sensitivity Troponin I using the XPT automated platform fits both the criteria and quality specifications required by the most recent international guidelines for high-sensitivity methods for cTnI assay.

Published
2019

11. Evaluation of 99th percentile and reference change values of a high-sensitivity cTnI method: A multicenter study

Author

Clerico, A., Ripoli, A., Masotti, S., Musetti, V., Aloe, R., Dipalo, M., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Storti, Sergio, Belloni, L., Perrone, M., Fasano, T., Canovi, S., Correale, M., Prontera, C., Guiotto, C., Cosseddu, D., Migliardi, M., Bernardini, S., Carrozza, C. (ORCID:0000-0003-1045-0470), Storti, S. (ORCID:0000-0002-4374-3985), Clerico, A., Ripoli, A., Masotti, S., Musetti, V., Aloe, R., Dipalo, M., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Storti, Sergio, Belloni, L., Perrone, M., Fasano, T., Canovi, S., Correale, M., Prontera, C., Guiotto, C., Cosseddu, D., Migliardi, M., Bernardini, S., Carrozza, C. (ORCID:0000-0003-1045-0470), and Storti, S. (ORCID:0000-0002-4374-3985)

Abstract

Background: The Italian Society of Clinical Biochemistry (SIBioC) and the Italian Section of the European Ligand Assay Society (ELAS) have recently promoted a multicenter study (Italian hs-cTnI Study) with the aim to accurately evaluate analytical performances and reference values of the most popular cTnI methods commercially available in Italy. The aim of this article is to report the results of the Italian hs-cTnI Study concerning the evaluation of the 99th percentile URL and reference change (RCV) values around the 99th URL of the Access cTnI method. Materials and methods: Heparinized plasma samples were collected from 1306 healthy adult volunteers by 8 Italian clinical centers. Every center collected from 50 to 150 plasma samples from healthy adult subjects. All volunteers denied the presence of chronic or acute diseases and had normal values of routine laboratory tests (including creatinine, electrolytes, glucose and blood counts). An older cohort of 457 adult subjects (mean age 63.0 years; SD 8.1 years, minimum 47 years, maximum 86 years) underwent also ECG and cardiac imaging analysis in order to exclude the presence of asymptomatic cardiac disease. Results and conclusions: The results of the present study confirm that the Access hsTnl method using the DxI platform satisfies the two criteria required by international guidelines for high-sensitivity methods for cTn assay. Furthermore, the results of this study confirm that the calculation of the 99th percentile URL values are greatly affected not only by age and sex of the reference population, but also by the statistical approach used for calculation of cTnI distribution parameters.

Published
2019

12. Head-to-head comparison of plasma cTnI concentration values measured with three high-sensitivity methods in a large Italian population of healthy volunteers and patients admitted to emergency department with acute coronary syndrome: A multi-center study

Author

Clerico, A., Ripoli, A., Zaninotto, M., Masotti, S., Musetti, V., Ciaccio, M., Aloe, R., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Fasano, T., Perrone, M., De Santis, Antonio, Prontera, C., Riggio, D., Guiotto, C., Migliardi, M., Bernardini, S., Plebani, M., Carrozza, C. (ORCID:0000-0003-1045-0470), de Santis, A., Clerico, A., Ripoli, A., Zaninotto, M., Masotti, S., Musetti, V., Ciaccio, M., Aloe, R., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Fasano, T., Perrone, M., De Santis, Antonio, Prontera, C., Riggio, D., Guiotto, C., Migliardi, M., Bernardini, S., Plebani, M., Carrozza, C. (ORCID:0000-0003-1045-0470), and de Santis, A.

Abstract

Background: The study aim is to compare cTnI values measured with three high-sensitivity (hs) methods in apparently healthy volunteers and patients admitted to emergency department (ED) with acute coronary syndrome enrolled in a large multicentre study. Methods: Heparinized plasma samples were collected from 1511 apparently healthy subjects from 8 Italian clinical institutions (mean age: 51.5 years, SD: 14.1 years, range: 18-65 years, F/M ratio:0.95). All volunteers denied chronic or acute diseases and had normal values of routine laboratory tests. Moreover, 1322 heparinized plasma sample were also collected by 9 Italian clinical institutions from patients admitted to ED with clinical symptoms typical of acute coronary syndrome. The reference study laboratory assayed all plasma samples with three hs-methods: Architect hs-cTnI, Access hs-cTnI and ADVIA Centaur XPT methods. Principal Component Analysis (PCA) was also used to analyze the between-method differences among hs-cTnI assays. Results: On average, a between-method difference of 31.2% CV was found among the results of hs-cTnI immunoassays. ADVIA Centaur XPT method measured higher cTnI values than Architect and Access methods. Moreover, 99th percentile URL values depended not only on age and sex of reference population, but also on the statistical approach used for calculation (robust non-parametric vs bootstrap). Conclusions: Due to differences in concentrations and reference values, clinicians should be advised that plasma samples of the same patient should be measured for cTnI assay in the same laboratory. Specific clinical studies are needed to establish the most appropriate statistical approach to calculate the 99th percentile URL values for hs-cTnI methods.

Published
2019

13. Evaluation of 99th percentile value of a chemiluminescence enzyme immunoassay (CLEIA) for cTnI using the automated AIA-CL2400 platform

Author

Masotti, S., Musetti, V., Aloe, R., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Perrone, M., Fasano, T., De Santis, Antonio, Prontera, C., Guiotto, C., Clerico, A., Carrozza, C. (ORCID:0000-0003-1045-0470), de Santis, A., Masotti, S., Musetti, V., Aloe, R., Rizzardi, S., Dittadi, R., Carrozza, Cinzia, Perrone, M., Fasano, T., De Santis, Antonio, Prontera, C., Guiotto, C., Clerico, A., Carrozza, C. (ORCID:0000-0003-1045-0470), and de Santis, A.

Abstract

No abstract available

Published
2019

14. Stimulating TSH receptor autoantibodies immunoassay: analytical evaluation and clinical performance in Graves’ disease

Author

Autilio, C., Morelli, R., Locantore, Pietro, Pontecorvi, Alfredo, Zuppi, Cecilia, Carrozza, Cinzia, Locantore, P., Pontecorvi, A. (ORCID:0000-0003-0570-6865), Zuppi, C. (ORCID:0000-0003-4710-4934), Carrozza, C. (ORCID:0000-0003-1045-0470), Autilio, C., Morelli, R., Locantore, Pietro, Pontecorvi, Alfredo, Zuppi, Cecilia, Carrozza, Cinzia, Locantore, P., Pontecorvi, A. (ORCID:0000-0003-0570-6865), Zuppi, C. (ORCID:0000-0003-4710-4934), and Carrozza, C. (ORCID:0000-0003-1045-0470)

Abstract

Background Thyroid-stimulating hormone (TSH) receptor (TSHR) autoantibodies (TRAbs) are a heterogeneous group of antibodies (Abs) with different functionalities. Among all TRAbs, only the stimulating ones (S-TRAbs) are considered as the pathogenetic marker of Graves' disease (GD). To date, the methods available for TRAbs testing are based on immunoassays (IMAs) which detect total serum TRAbs or bioassays which are not suitable in clinical practice, even though they discern Abs functionality. The aim of our work was to evaluate the analytical and clinical performance of a very recent IMA (Immulite TSI method), supposed to test only the serum concentration of S-TRAbs, in comparison with a current method for total TRAbs (Roche/Elecsys IMA). Methods We evaluated serum samples of 145 subjects: 46 with untreated (GD), 36 with chronic autoimmune thyroiditis, 3 with atrophic thyroiditis, 10 with multinodular non-toxic goiter and 50 healthy subjects. Results The method showed an optimal analytical sensitivity and high precision levels (LoB: 0.04UI/L, LoD:0.07UI/L, LoQ:0.14UI/L, intra-assay CV: 4.2-5.9%, inter-assay: 4.5-7.2%). By receiver operating characteristics curve analysis, we obtained a value of 0.57 (sensitivity: 98.0%, specificity: 99.9%) as the best cut-off to distinguish GD, apart from four cases. Passing Bablok regression and Bland Altman analysis pointed out a good correlation and agreement with Roche method (R-2=0.98, slope=1.03, bias=-2.70). Conclusions The new method presents very promising analytical characteristics and could be adopted in clinical practice for GD diagnosis. Moreover, the test allows to accurately detect very low values of analyte with a further clinical utility in detecting earlier possible relapses.

Published
2018

15. Brains and bodies on the move: A research agenda on precarious researchers’ mobility

Author

Carrozza, C., Giorgi, Alberta, and Raffini, Luca

Subjects
Settore SPS/08 - Sociologia dei Processi Culturali e Comunicativi, LAR, Scientific mobility, Transnacionalidade, Settore SPS/11 - Sociologia dei Fenomeni Politici, União Europeia, Precariedade, Mobilidade científica, Settore SPS/07 - Sociologia Generale, Transnationality, Precariousness, European Union
Abstract

Mobility represents a powerful factor of change. It redefines the structures of society and stimulates the re-orientation of identities, the feelings of belonging and the individual social networks. Indeed, mobility provides chances of life improvement but also brings about new risks and produces new inequalities. The EU represents an extraordinary laboratory of mobility and transnationality. This contribution focuses on a particular category of mobile Europeans: precarious situation of academic researchers. Young mobile researchers are part of the “Erasmus Generation” but they are also part of the “Precarious generation” carrying out theirwork with little security. Both these factors encourage mobility, acting as “pull” and “push” forces. We critically revise the theories on mobility and the governance of research mobility in EU policies, we analyse the available data on researchers’ mobility and finally, and drawing on an original database of interviews with female researchers, we explore the consequences of mobility in the realm of social and romantic relations.We focus, in particular, on the concept of ‘Living Apart Relationships’(LAR), that sheds light on an often-overlooked aspect in the ‘brain drain/circulation’ narratives, which is the fact that researchers, besides brains, have bodies too.We conclude outlining a new research agenda on academic researchers’ mobility in Europe that aims to overcome the neoliberal rhetoric on mobility and draw attention to the fact that both brains and bodies are on the move. A mobilidade representa um fator de mudança, que redefine as estruturas da sociedade e promove a reorientação das identidades, pertença e redes sociais. A mobilidade oferece oportunidades, mas também traz novos riscos e novas desigualdade. A UE representa um laboratório extraordinário de mobilidade e trans-nacionalidade. A contribuição trabalha sobre uma específica categoria dos europeus móveis: os pesquisadores. Os jovens investigadores móveis são parte da “geração Erasmus” mas eles também são parte da “geração precária”. Ambos incentivam a mobilidade, com factores “push/pull”. Nós vamos a rever criticamente as teorias sobre a mobilidade e a governança da mobilidade científica nas políticas da UE, analisamos os dados disponíveis sobre a mobilidade académica e, com base em um banco de dados originais de entrevistas em profundidade com mulheres investigadoras, vamos explorar as consequências da mobilidade nas relações românticas. Nós nos concentramos, em particular, sobre o conceito de “Living Apart Relationships” (LAR), que permite de observar um aspecto muitas vezes negligenciado nas narrativas das “fuga/circulação de cérebros”: os pesquisadores, além de cérebros, têm corpos também. Nós concluímos delineando uma nova agenda de pesquisa sobre a mobilidade académica na Europa.

Published
2017

17. Harmonization protocols for TSH immunoassays: A multicenter study in Italy

Author

Clerico, A., Ripoli, A., Fortunato, A., Alfano, A., Carrozza, Cinzia, Correale, M., Dittadi, R., Gessoni, G., Migliardi, M., Rizzardi, S., Prontera, C., Masotti, S., Zucchelli, G., Guiotto, C., Iacovazzi, P. A., Iervasi, G., Carrozza, C. (ORCID:0000-0003-1045-0470), Clerico, A., Ripoli, A., Fortunato, A., Alfano, A., Carrozza, Cinzia, Correale, M., Dittadi, R., Gessoni, G., Migliardi, M., Rizzardi, S., Prontera, C., Masotti, S., Zucchelli, G., Guiotto, C., Iacovazzi, P. A., Iervasi, G., and Carrozza, C. (ORCID:0000-0003-1045-0470)

Abstract

Background: Systematic difference between thyroid-stimulating hormone (TSH) immunoassays may produce misleading interpretation when samples of the same patients are measured with different methods. The study aims were to evaluate whether systematic differences are present among TSH immunoassays, and whether it is possible to obtain a better harmonization among TSH methods using results obtained in external quality assessment (EQA) schemes. Methods: Seven Italian clinical laboratories measured TSH in 745 serum samples of healthy subjects and patients with thyroid disorders. These samples were also re-measured by two reference laboratories of the study with the six TSH immunoassays most popular in Italy after 2 months of storage at -80 degrees C. Moreover, these data were compared to 53,823 TSH measurements, obtained by laboratories participant to 2012-2015 EQA annual cycles in 72 quality control samples (TSH concentrations from about 0.1 mIU/L to 18.0mIU/L). TSH concentrations were recalibrated using a mathematical approach based on the principal component analysis (PCA). Results: Systematic differences were found between the most popular commercially available TSH immunoassays. TSH concentrations measured by the clinical laboratories were very closely correlated to those measured with the same method by reference laboratories after 2 months of storage at -80 degrees C. After recalibration using the PCA approach the variation of TSH values significantly decreased from a median pre-calibration value of 13.53% (10.79%-16.53%) to 9.63% (6.90%-13.21%) after recalibration. Conclusions: Our data suggest that EQA schemes are useful to improve harmonization among TSH immunoassays and also to produce some mathematical formulas, which can be used by clinicians to better compare TSH values measured with different methods.

Published
2017

18. CYP21A2 intronic variants causing 21-hydroxylase deficiency

Author

Concolino, P, Rizza, Roberta, Costella, Alessandra, Carrozza, Cinzia, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Rizza, R, Costella, A, Carrozza, C (ORCID:0000-0003-1045-0470), Zuppi, C (ORCID:0000-0003-4710-4934), Capoluongo, E. (ORCID:0000-0001-9872-0572), Concolino, P, Rizza, Roberta, Costella, Alessandra, Carrozza, Cinzia, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Rizza, R, Costella, A, Carrozza, C (ORCID:0000-0003-1045-0470), Zuppi, C (ORCID:0000-0003-4710-4934), and Capoluongo, E. (ORCID:0000-0001-9872-0572)

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date. In addition, we describe three novel causing disease variants in our patients affected by the classic form of CAH: IVS4-1G > A, IVS5-8 T > A, IVS8-2A > G. In silico analysis revealed that all these substitutions affect the splicing process leading to a nonfunctional protein. Based on these results, we are able to classify them as pathological variants according to the patient's phenotype.

Published
2017

21. Calcitonin measurement in fine-needle aspirate washouts vs. cytologic examination for diagnosis of primary or metastatic medullary thyroid carcinoma

Author

DE CREA, C., RAFFAELLI, M., MACCORA, D., CARROZZA, C., CANU, G., FADDA, G., BELLANTONE, R., and LOMBARDI, C.P.

Subjects
Thyroid, Adult, Aged, 80 and over, Male, Calcitonin, Adolescent, US-guided fine-needle aspiration biopsy, Settore MED/18 - CHIRURGIA GENERALE, Biopsy, Fine-Needle, Middle Aged, CYTOLOGY, THYROID CARCINOMA, CALCITONIN, Carcinoma, Neuroendocrine, Young Adult, Medullary thyroid carcinoma, Humans, Female, Prospective Studies, Thyroid Neoplasms, Cytology, Lymph node metastases, Aged
Abstract

Ultrasound-guided fine-needle aspiration biopsy cytology (FNAB-C) is able to detect approximately 63% of medullary thyroid carcinoma (MTC). The measurement of calcitonin in the needle washout (FNAB-CT) could improve its accuracy. Sixty-two FNAB-C were performed in 38 patients. Serum calcitonin (sCT) was measured before performing FNAB-C. After obtaining a FNAB-C specimen, the needle was washed with 0.5 ml of saline solution to obtain the CT washouts. Receiver operating characteristic (RO C) analysis identified the cut-offs of FNAB-CT and FNAB-CT/sCT. Eighteen MTC were found at final histology. RO C analysis indicated FNAB-CT10.4 pg/ml and FNABCT/ sCT1.39 as more accurate cut-off values. Overall accuracy, positive (PPV) and negative predictive values (NPV) were 85%, 100 and 83%, respectively, for FNAB-C, 97%, 100%, 96% for FNAB-CT and 90%, 83% and 93% for FNAB-CT/sCT. The integration of FNAB-C and FNAB-CT resulted in 98% overall accuracy, 100% PPV and 98% NPV; the integration of FNAB-C and FNAB-CT/sCT in 90% overall accuracy, 80% PPV and 95% NPV. One of 2 false negative FNAB-CT and one of 3 false negative FNAB CT/sCT were correctly diagnosed by FNAB-C. Eight of 9 non-diagnostic FNAB-C were correctly classified by FNAB-CT and 7 by FNAB CT/sCT. FNAB-CT should integrate but not replace FNAB-C. FNAB-CT is particularly useful in the presence of non-diagnostic FNAB-C.L'esame citologico su agoaspirato ecoguidato con ago sottile (FNAB-C) rappresenta una delle procedure più comuni per la conferma della diagnosi di carcinoma midollare della tiroide (CMT) primitivo e/o metastatico. Tuttavia la sensibilità riportata per questa metodica nella diagnosi del CMT è di circa il 63%. Il dosaggio della calcitonina nel liquido di lavaggio dell'agoaspirato (FNAB-CT) è una metodica recentemente introdotta, proposta al fine di migliorare l'accuratezza diagnostica della citologia convenzionale. Sono stati considerati tutti i pazienti con sospetto CMT primitivo e/o metastatico sottoposti a FNAB-C e FNAB-CT tra Marzo 2012 e Settembre 2013, per i quali era disponibile la conferma istologica. La calcitonina sierica (sCT) è stata dosata prima dell'esecuzione del FNAB-C. Dopo aver prelevato e preparato il campione per l'esame citologico, l'ago è stato lavato con 0,5 ml di soluzione salina per ottenere il dosaggio della CT nel liquido di lavaggio. È stata eseguita un'analisi ROC al fine di identificare i cut-off con più elevata sensibilità ed accuratezza rispettivamente per il FNAB-CT e il rapporto tra FNAB-CT e sCT (FNAB-CT/sCT ratio). L'accuratezza diagnostica dei cut-off stabiliti è stata confrontata con quella del FNAB-C. Sono stati eseguiti 62 FNAB-C in 38 pazienti. L'esame istologico definitivo ha confermato la diagnosi di CMT in 18 lesioni (29,9%). L'analisi ROC ha individuato un valore10,4 pg/ml e1,39 come cut-off più accurati rispettivamente per FNAB-CT e FNAB-CT/sCT ratio. L'accuratezza, il valore predittivo positivo (VPP) ed il valore predittivo negativo (VPN) sono risultati, rispettivamente, 85%, 100% e 83% per il FNAB-C, 97%, 100% e 96% per il FNAB-CT e 90%, 83% e 93% per FNAB-CT/sCT ratio. L'integrazione di FNAB-C e FNAB-CT ha mostrato una accuratezza pari al 98%, un VPP pari al 100% ed un VPN pari al 98%; l'integrazione di FNAB-C e FNAB-CT/sCT ratio ha mostrato un'accuratezza del 90%, un VPP dell'80% ed un VPN del 95%. Il FNAB-C ha identificato correttamente 1 dei 2 casi risultati falsi negativi al FNAB-CT e 1 dei 3 casi falsi negativi al FNAB-CT/sCT ratio. La procedura del FNAB-CT ha diagnosticato correttamente 8 dei 9 casi non diagnostici al FNAB-C, mentre il FNAB-CT/sCT ratio ne ha individuati correttamente 7. Nella nostra esperienza il FNAB-CT è risultato più accurato del FNAB-CT/sCT ratio. Nella diagnosi del CMT primitivo o metastatico il FNAB-CT può integrare ma non sostituire il FNAB-C ed è particolarmente utile nei casi non diagnostici alla citologia convenzionale.

Published
2014

22. Gene symbol: CYP21A2. Disease: Adrenal hyperplasia

Author

Capoluongo E, Paola Concolino, Carrozza C, Santonocito C, Zuppi C, Capoluongo, Ed, Concolino, P, Carrozza, C, Santonocito, C, and Zuppi, C

Subjects
Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, CYP21A2 mutation
Published
2008

23. Neuroendocrine and psychological assessment in a guinness 10 days scuba dive

Author

Revelli, L., Addolorato, Giovanni, D'Amore, A., Carrozza, C., Giubileo, G., Puiu, A., Lombardi, C. P., Bellantone, R., Gasbarrini, G., Leggio, Lorenzo, Mirijello, Antonio, D'Angelo, Cristina, Ferrulli, Anna, Vonghia, Luisa, Cardone, Silvia, Leso, Veruscka, Abenavoli, Ludovico, Raffaelli, Marco, De Crea, Carmela, Princi, Pietro, Spaventa, Antonio, Sessa, Luca, Rota, Carlo, Costanzo, Corrado, Revelli, L., Addolorato, Giovanni, D'Amore, A., Carrozza, C., Giubileo, G., Puiu, A., Lombardi, C. P., Bellantone, R., Gasbarrini, G., Leggio, Lorenzo, Mirijello, Antonio, D'Angelo, Cristina, Ferrulli, Anna, Vonghia, Luisa, Cardone, Silvia, Leso, Veruscka, Abenavoli, Ludovico, Raffaelli, Marco, De Crea, Carmela, Princi, Pietro, Spaventa, Antonio, Sessa, Luca, Rota, Carlo, and Costanzo, Corrado

Subjects
Adult, Male, medicine.medical_specialty, Breath Test, Self-Assessment, Psychometrics, Depression scale, Stre, Diving, Physical Therapy, Sports Therapy and Rehabilitation, Anxiety, Task Performance and Analysi, Cortisol, Task Performance and Analysis, Humans, Medicine, Psychological testing, Orthopedics and Sports Medicine, Psychiatry, Depression (differential diagnoses), Spectrum Analysi, Sport, business.industry, Depression, Spectrum Analysis, Panic symptoms, Environmental exposure, Environmental Exposure, Neurosecretory Systems, Breath Tests, Italy, Physical therapy, Neurosecretory System, Female, medicine.symptom, business, human activities, Scuba diver, Psychometric, Sports, Psychopathology, Human
Abstract

This study was designed to evaluate physiological and psychological stress parameters in 2 professional trained scuba divers, using a unique physiopathologic model, offered by the guinness 240 hours scuba dive. Two scuba dive masters have spent 240 hours at 6 - 8 meters depth (26.4 ft) in Ponza Island water (Italy). Blood samples were collected daily in the underwater bell; samples were carried out of water in waterproof bags. Breath samples were collected, measuring ethylene release. Psychological assessment was performed using the State and Trait Anxiety Inventory and the Zung self-rating depression scale. In the studied subjects, cortisol and prolactin showed physiological pulsatile secretion. Breath ethylene didn't exceed normal values. At the start of the study, no subjects showed high levels of state anxiety, trait anxiety and current depression. Psychometric scales scores remained steady during the diving period and no subjects showed anxiety and/or depression and/or panic symptoms during the time of observation. The present study shows that, although the long-time diving, well trained professional divers did not develop anxiety and/or depression. No subject discontinued the diving due to occurred psychological disorders or systemic events. The present report shows that the long-term diving permanence is possible, at least in well trained scuba divers.

Published
2007

25. Analytical assessment of bone serum markers in patients suffering from spina bifida

Author

Pocino, Krizia, Rendeli, Claudia, Ausili, E, Paolucci, V, Romagnoli, Costantino, Carrozza, Cinzia, Capoluongo, Ettore Domenico, Pocino, K (ORCID:0000-0003-2456-5308), Rendeli, C (ORCID:0000-0002-5948-1617), Romagnoli, C (ORCID:0000-0003-1176-2943), Carrozza, C (ORCID:0000-0003-1045-0470), Capoluongo, E (ORCID:0000-0001-9872-0572), Pocino, Krizia, Rendeli, Claudia, Ausili, E, Paolucci, V, Romagnoli, Costantino, Carrozza, Cinzia, Capoluongo, Ettore Domenico, Pocino, K (ORCID:0000-0003-2456-5308), Rendeli, C (ORCID:0000-0002-5948-1617), Romagnoli, C (ORCID:0000-0003-1176-2943), Carrozza, C (ORCID:0000-0003-1045-0470), and Capoluongo, E (ORCID:0000-0001-9872-0572)

Abstract

N/A

Published
2015

27. Falsely increased free triiodothyronine values in a woman affected by thyroiditis and multinodular goiter

Author

Carrozza, Cinzia, Paragliola, Rosa Maria, Corsello, Salvatore Maria, Zuppi, Cecilia, Carrozza C. (ORCID:0000-0003-1045-0470), Paragliola R. M. (ORCID:0000-0002-5070-7771), Corsello S. M. (ORCID:0000-0002-4544-7274), Zuppi C. (ORCID:0000-0003-4710-4934), Carrozza, Cinzia, Paragliola, Rosa Maria, Corsello, Salvatore Maria, Zuppi, Cecilia, Carrozza C. (ORCID:0000-0003-1045-0470), Paragliola R. M. (ORCID:0000-0002-5070-7771), Corsello S. M. (ORCID:0000-0002-4544-7274), and Zuppi C. (ORCID:0000-0003-4710-4934)

Abstract

We describe a case of a 63-years old woman affected by Hashimoto's thyroiditis and multinodular goiter. Her laboratory results showed elevated free triiodothyronine (FT3) concentrations (18.5 ng/L), with free thyroxine (FT4) and thyrotropin (TSH) within the physiologic range. On the basis of these results, she started methimazole therapy, with persistence of inappropriately elevated FT3 concentrations. The therapy was thus stopped and blood examination was repeated after one month in our laboratory: concentrations of thyroid tests were within the physiologic range, including FT3 (2.8 ng/L). The difference between this result and that previously obtained raised the suspicion of the presence of an interference in the first result. In fact, in our laboratory a competitive electrochemiluminescence immunoassay with labeled antibody is used, while the first laboratory employed a competitive chemiluminescence immunoassay with labeled analogue, which has a more important risk of interference. After treating sample by polyethylene glycol, FT3 resulted indeed normal also by the immunoassay used by the first laboratory.

Published
2014

28. Hypotestosteronemia is frequent in ST-elevation myocardial infarction patients and is associated with coronary microvascular obstruction

Author

Niccoli, Giampaolo, Milardi, Domenico, D'Amario, Domenico, Fracassi, Francesco, Grande, G, Panico, Ra, Roberto, M, Mirizzi, Am, Canu, G, De Marinis Grasso, Laura, Carrozza, Cinzia, Pontecorvi, Alfredo, Crea, Filippo, Niccoli, Giampaolo (ORCID:0000-0002-3187-6262), De Marinis, Laura (ORCID:0000-0001-9916-0669), Carrozza, C (ORCID:0000-0003-1045-0470), Pontecorvi, Alfredo (ORCID:0000-0003-0570-6865), Crea, Filippo (ORCID:0000-0001-9404-8846), Niccoli, Giampaolo, Milardi, Domenico, D'Amario, Domenico, Fracassi, Francesco, Grande, G, Panico, Ra, Roberto, M, Mirizzi, Am, Canu, G, De Marinis Grasso, Laura, Carrozza, Cinzia, Pontecorvi, Alfredo, Crea, Filippo, Niccoli, Giampaolo (ORCID:0000-0002-3187-6262), De Marinis, Laura (ORCID:0000-0001-9916-0669), Carrozza, C (ORCID:0000-0003-1045-0470), Pontecorvi, Alfredo (ORCID:0000-0003-0570-6865), and Crea, Filippo (ORCID:0000-0001-9404-8846)

Abstract

Gonadal function is thought to be involved in existing atherosclerotic plaques stabilization and might affect reperfusion after primary percutaneous coronary intervention (pPCI). We aimed to compare the prevalence of hypotestosteromenia between ST-elevation myocardial infarction (STEMI) and stable angina (SA) patients and between patients with and without microvascular obstruction (MVO).

Published
2014

32. NEMS based tactile sensing in an artificial finger

Author

Adams, Mike, Anthony, Carl, Bowen, James, Cheneler, David, Grover, Liam, Kaklamani, Georgina, Carrozza, C., Oddo, Calogero, Pape, Leo, Kazerounian, Sohrob, Adams, Mike, Anthony, Carl, Bowen, James, Cheneler, David, Grover, Liam, Kaklamani, Georgina, Carrozza, C., Oddo, Calogero, Pape, Leo, and Kazerounian, Sohrob

Published
2013

35. Two diagnostic pitfalls mimicking a prolactin-secreting microadenoma

Author

D'Ercole, Manuela, Della Pepa, Giuseppe Maria, Carrozza, Cinzia, Bianchi, Antonio, Doglietto, Francesco, D'Ercole M., Della Pepa G. M. (ORCID:0000-0001-8698-3359), Carrozza C. (ORCID:0000-0003-1045-0470), Bianchi A., Doglietto F. (ORCID:0000-0002-7438-0734), D'Ercole, Manuela, Della Pepa, Giuseppe Maria, Carrozza, Cinzia, Bianchi, Antonio, Doglietto, Francesco, D'Ercole M., Della Pepa G. M. (ORCID:0000-0001-8698-3359), Carrozza C. (ORCID:0000-0003-1045-0470), Bianchi A., and Doglietto F. (ORCID:0000-0002-7438-0734)

Abstract

N/A

Published
2010

36. Saturday, 17 July 2010

Author

Dimova, I., primary, Hlushchuk, R., additional, Makanya, A., additional, Djonov, V., additional, Theurl, M., additional, Schgoer, W., additional, Albrecht, K., additional, Beer, A., additional, Patsch, J. R., additional, Schratzberger, P., additional, Mahata, S., additional, Kirchmair, R., additional, Didie, M., additional, Christalla, P., additional, Rau, T., additional, Eschenhagen, T., additional, Schumacher, U., additional, Lin, Q., additional, Zenke, M., additional, Zimmmermann, W., additional, Hoch, M., additional, Fischer, P., additional, Stapel, B., additional, Missol-Kolka, E., additional, Erschow, S., additional, Scherr, M., additional, Drexler, H., additional, Hilfiker-Kleiner, D., additional, Diebold, I., additional, Petry, A., additional, Kennel, P., additional, Djordjevic, T., additional, Hess, J., additional, Goerlach, A., additional, Castellano, J., additional, Aledo, R., additional, Sendra, J., additional, Costales, P., additional, Badimon, L., additional, Llorente-Cortes, V., additional, Dworatzek, E., additional, Mahmoodzadeh, S., additional, Regitz-Zagrosek, V., additional, Posa, A., additional, Varga, C., additional, Berko, A., additional, Veszelka, M., additional, Szablics, P., additional, Vari, B., additional, Pavo, I., additional, Laszlo, F., additional, Brandenburger, M., additional, Wenzel, J., additional, Bogdan, R., additional, Richardt, D., additional, Reppel, M., additional, Hescheler, J., additional, Terlau, H., additional, Dendorfer, A., additional, Heijman, J., additional, Rudy, Y., additional, Westra, R., additional, Volders, P., additional, Rasmusson, R., additional, Bondarenko, V., additional, Ertas Gokhan, M. D., additional, Ural Ertan, M. D., additional, Karaoz Erdal, P. H. D., additional, Aksoy Ayca, P. H. D., additional, Kilic Teoman, M. D., additional, Kozdag Guliz, M. D., additional, Vural Ahmet, M. D., additional, Ural Dilek, M. D., additional, Poulet, C., additional, Christ, T., additional, Wettwer, E., additional, Ravens, U., additional, Van Der Pouw Kraan, C., additional, Schirmer, S., additional, Fledderus, J., additional, Moerland, P., additional, Leyen, T., additional, Piek, J., additional, Van Royen, N., additional, Horrevoets, A., additional, Fleissner, F., additional, Jazbutyte, V., additional, Fiedler, J., additional, Galuppo, P., additional, Mayr, M., additional, Ertl, G., additional, Bauersachs, J., additional, Thum, T., additional, Protze, S., additional, Bussek, A., additional, Li, F., additional, Hoo, R., additional, Lam, K., additional, Xu, A., additional, Subramanian, P., additional, Karshovska, E., additional, Megens, R., additional, Akhtar, S., additional, Heyll, K., additional, Jansen, Y., additional, Weber, C., additional, Schober, A., additional, Zafeiriou, M., additional, Noack, C., additional, Renger, A., additional, Dietz, R., additional, Zelarayan, L., additional, Bergmann, M., additional, Meln, I., additional, Malashicheva, A., additional, Anisimov, S., additional, Kalinina, N., additional, Sysoeva, V., additional, Zaritskey, A., additional, Barbuti, A., additional, Scavone, A., additional, Mazzocchi, N., additional, Crespi, A., additional, Capilupo, D., additional, Difrancesco, D., additional, Qian, L., additional, Shim, W., additional, Gu, Y., additional, Mohammed, S., additional, Wong, P., additional, Zafiriou, M., additional, Schaeffer, H., additional, Kovacs, P., additional, Simon, J., additional, Varro, A., additional, Athias, P., additional, Wolf, J., additional, Bouchot, O., additional, Vandroux, D., additional, Mathe, A., additional, De Carvalho, A., additional, Laurent, G., additional, Rainer, P., additional, Huber, M., additional, Edelmann, F., additional, Stojakovic, T., additional, Trantina-Yates, A., additional, Trauner, M., additional, Pieske, B., additional, Von Lewinski, D., additional, De Jong, A., additional, Maass, A., additional, Oberdorf-Maass, S., additional, Van Gelder, I., additional, Lin, Y., additional, Li, J., additional, Wang, F., additional, He, Y., additional, Li, X., additional, Xu, H., additional, Yang, X., additional, Coppini, R., additional, Ferrantini, C., additional, Ferrara, C., additional, Rossi, A., additional, Mugelli, A., additional, Poggesi, C., additional, Cerbai, E., additional, Rozmaritsa, N., additional, Voigt, N., additional, Dobrev, D., additional, Kienitz, M.-C., additional, Zoidl, G., additional, Bender, K., additional, Pott, L., additional, Kohajda, Z., additional, Kristof, A., additional, Virag, L., additional, Jost, N., additional, Trafford, A., additional, Prnjavorac, B., additional, Mujaric, E., additional, Jukic, J., additional, Abduzaimovic, K., additional, Brack, K., additional, Patel, V., additional, Coote, J., additional, Ng, G., additional, Wilders, R., additional, Van Ginneken, A., additional, Verkerk, A., additional, Xaplanteris, P., additional, Vlachopoulos, C., additional, Baou, K., additional, Vassiliadou, C., additional, Dima, I., additional, Ioakeimidis, N., additional, Stefanadis, C., additional, Ruifrok, W., additional, Qian, C., additional, Sillje, H., additional, Van Goor, H., additional, Van Veldhuisen, D., additional, Van Gilst, W., additional, De Boer, R., additional, Schmidt, K., additional, Kaiser, F., additional, Erdmann, J., additional, De Wit, C., additional, Barnett, O., additional, Kyyak, Y., additional, Cesana, F., additional, Boffi, L., additional, Mauri, T., additional, Alloni, M., additional, Betelli, M., additional, Nava, S., additional, Giannattasio, C., additional, Mancia, G., additional, Vilskersts, R., additional, Kuka, J., additional, Svalbe, B., additional, Liepinsh, E., additional, Dambrova, M., additional, Zakrzewicz, A., additional, Maroski, J., additional, Vorderwuelbecke, B., additional, Fiedorowicz, K., additional, Da Silva-Azevedo, L., additional, Pries, A., additional, Gryglewska, B., additional, Necki, M., additional, Zelawski, M., additional, Grodzicki, T., additional, Scoditti, E., additional, Massaro, M., additional, Carluccio, M., additional, Distante, A., additional, Storelli, C., additional, De Caterina, R., additional, Kocgirli, O., additional, Valcaccia, S., additional, Dao, V., additional, Suvorava, T., additional, Kumpf, S., additional, Floeren, M., additional, Oppermann, M., additional, Kojda, G., additional, Leo, C., additional, Ziogas, J., additional, Favaloro, J., additional, Woodman, O., additional, Goettsch, W., additional, Marton, A., additional, Goettsch, C., additional, Morawietz, H., additional, Khalifa, E., additional, Ashour, Z., additional, Rupprecht, V., additional, Scalera, F., additional, Martens-Lobenhoffer, J., additional, Bode-Boeger, S., additional, Li, W., additional, Kwan, Y., additional, Leung, G., additional, Patella, F., additional, Mercatanti, A., additional, Pitto, L., additional, Rainaldi, G., additional, Tsimafeyeu, I., additional, Tishova, Y., additional, Wynn, N., additional, Kalinchenko, S., additional, Clemente Lorenzo, M., additional, Grande, M., additional, Barriocanal, F., additional, Aparicio, M., additional, Martin, A., additional, Hernandez, J., additional, Lopez Novoa, J., additional, Martin Luengo, C., additional, Kurlianskaya, A., additional, Denisevich, T., additional, Barth, N., additional, Loot, A., additional, Fleming, I., additional, Wang, Y., additional, Gabrielsen, A., additional, Ripa, R., additional, Jorgensen, E., additional, Kastrup, J., additional, Arderiu, G., additional, Pena, E., additional, Kobus, K., additional, Czyszek, J., additional, Kozlowska-Wiechowska, A., additional, Milkiewicz, P., additional, Milkiewicz, M., additional, Madonna, R., additional, Montebello, E., additional, Geng, Y., additional, Chin-Dusting, J., additional, Michell, D., additional, Skilton, M., additional, Dixon, J., additional, Dart, A., additional, Moore, X., additional, Ehrbar, M., additional, Reichmuth, P., additional, Heinimann, N., additional, Hewing, B., additional, Stangl, V., additional, Stangl, K., additional, Laule, M., additional, Baumann, G., additional, Ludwig, A., additional, Widmer-Teske, R., additional, Mueller, A., additional, Stieger, P., additional, Tillmanns, H., additional, Braun-Dullaeus, R., additional, Sedding, D., additional, Troidl, K., additional, Eller, L., additional, Benli, I., additional, Apfelbeck, H., additional, Schierling, W., additional, Troidl, C., additional, Schaper, W., additional, Schmitz-Rixen, T., additional, Hinkel, R., additional, Trenkwalder, T., additional, Pfosser, A., additional, Globisch, F., additional, Stachel, G., additional, Lebherz, C., additional, Bock-Marquette, I., additional, Kupatt, C., additional, Seyler, C., additional, Duthil-Straub, E., additional, Zitron, E., additional, Scholz, E., additional, Thomas, D., additional, Gierten, J., additional, Karle, C., additional, Fink, R., additional, Padro, T., additional, Lugano, R., additional, Garcia-Arguinzonis, M., additional, Schuchardt, M., additional, Pruefer, J., additional, Toelle, M., additional, Pruefer, N., additional, Jankowski, V., additional, Jankowski, J., additional, Zidek, W., additional, Van Der Giet, M., additional, Fransen, P., additional, Van Hove, C., additional, Michiels, C., additional, Van Langen, J., additional, Bult, H., additional, Quarck, R., additional, Wynants, M., additional, Alfaro-Moreno, E., additional, Rosario Sepulveda, M., additional, Wuytack, F., additional, Van Raemdonck, D., additional, Meyns, B., additional, Delcroix, M., additional, Christofi, F., additional, Wijetunge, S., additional, Sever, P., additional, Hughes, A., additional, Ohanian, J., additional, Forman, S., additional, Ohanian, V., additional, Gibbons, C., additional, Vernia, S., additional, Das, A., additional, Shah, V., additional, Casado, M., additional, Bielenberg, W., additional, Daniel, J., additional, Daniel, J.-M., additional, Hersemeyer, K., additional, Schmidt-Woell, T., additional, Kaetzel, D., additional, Tillmans, H., additional, Kanse, S., additional, Tuncay, E., additional, Kandilci, H., additional, Zeydanli, E., additional, Sozmen, N., additional, Akman, D., additional, Yildirim, S., additional, Turan, B., additional, Nagy, N., additional, Acsai, K., additional, Farkas, A., additional, Papp, J., additional, Toth, A., additional, Viero, C., additional, Mason, S., additional, Williams, A., additional, Marston, S., additional, Stuckey, D., additional, Dyer, E., additional, Song, W., additional, El Kadri, M., additional, Hart, G., additional, Hussain, M., additional, Faltinova, A., additional, Gaburjakova, J., additional, Urbanikova, L., additional, Hajduk, M., additional, Tomaskova, B., additional, Antalik, M., additional, Zahradnikova, A., additional, Steinwascher, P., additional, Jaquet, K., additional, Muegge, A., additional, Wang, G., additional, Zhang, M., additional, Tesi, C., additional, Ter Keurs, H., additional, Kettlewell, S., additional, Smith, G., additional, Workman, A., additional, Lenaerts, I., additional, Holemans, P., additional, Sokolow, S., additional, Schurmans, S., additional, Herchuelz, A., additional, Sipido, K., additional, Antoons, G., additional, Wehrens, X., additional, Li, N., additional, Respress, J. R., additional, De Almeida, A., additional, Van Oort, R., additional, Lohmann, H., additional, Saes, M., additional, Messer, A., additional, Copeland, O., additional, Leung, M., additional, Matthes, F., additional, Steinbrecher, J., additional, Salinas-Riester, G., additional, Opitz, L., additional, Hasenfuss, G., additional, Lehnart, S., additional, Caracciolo, G., additional, Eleid, M., additional, Carerj, S., additional, Chandrasekaran, K., additional, Khandheria, B., additional, Sengupta, P., additional, Riaz, I., additional, Tyng, L., additional, Dou, Y., additional, Seymour, A., additional, Dyer, C., additional, Griffin, S., additional, Haswell, S., additional, Greenman, J., additional, Yasushige, S., additional, Amorim, P., additional, Nguyen, T., additional, Schwarzer, M., additional, Mohr, F., additional, Doenst, T., additional, Popin Sanja, S., additional, Lalosevic, D., additional, Capo, I., additional, Momcilov Popin, T., additional, Astvatsatryan, A., additional, Senan, 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Tedeschi, L., additional, Trivella, M., additional, Citti, L., additional, Chen, B., additional, Ma, Y., additional, Yang, Y., additional, Ma, X., additional, Liu, F., additional, Hasanzad, M., additional, Rejali, L., additional, Fathi, M., additional, Minassian, A., additional, Mohammad Hassani, R., additional, Najafi, A., additional, Sarzaeem, M., additional, Sezavar, S., additional, Akhmedov, A., additional, Klingenberg, R., additional, Yonekawa, K., additional, Lohmann, C., additional, Gay, S., additional, Maier, W., additional, Neithard, M., additional, Luescher, T., additional, Xie, X., additional, Fu, Z., additional, Kevorkov, A., additional, Verduci, L., additional, Cremisi, F., additional, Wonnerth, A., additional, Katsaros, K., additional, Zorn, G., additional, Weiss, T., additional, De Rosa, R., additional, Galasso, G., additional, Piscione, F., additional, Santulli, G., additional, Iaccarino, G., additional, Piccolo, R., additional, Luciano, R., additional, Chiariello, M., additional, Szymanski, M., additional, Schoemaker, R., additional, Hillege, H., additional, Rizzo, S., additional, Basso, C., additional, Thiene, G., additional, Valente, M., additional, Rickelt, S., additional, Franke, W., additional, Bartoloni, G., additional, Bianca, S., additional, Giurato, E., additional, Barone, C., additional, Ettore, G., additional, Bianca, I., additional, Eftekhari, P., additional, Wallukat, G., additional, Bekel, A., additional, Heinrich, F., additional, Fu, M., additional, Briedert, M., additional, Briand, J., additional, Roegel, J., additional, Pilichou, K., additional, Korkmaz, S., additional, Radovits, T., additional, Pali, S., additional, Hirschberg, K., additional, Zoellner, S., additional, Loganathan, S., additional, Karck, M., additional, Szabo, G., additional, Pucci, A., additional, Pantaleo, J., additional, Martino, S., additional, Pelosi, G., additional, Matteucci, M., additional, Kusmic, C., additional, Vesentini, N., additional, Piccolomini, F., additional, Viglione, F., additional, L'abbate, A., additional, Slavikova, J., additional, Chottova Dvorakova, M., additional, Kummer, W., additional, Campanile, A., additional, Spinelli, L., additional, Ciccarelli, M., additional, De Gennaro, S., additional, Assante Di Panzillo, E., additional, Trimarco, B., additional, Akbarzadeh Najar, R., additional, Ghaderian, S., additional, Tabatabaei Panah, A., additional, Vakili, H., additional, Rezaei Farimani, A., additional, Rezaie, G., additional, Beigi Harchegani, A., additional, Hamdani, N., additional, Gavina, C., additional, Van Der Velden, J., additional, Niessen, H., additional, Stienen, G., additional, Paulus, W., additional, Moura, C., additional, Lamego, I., additional, Eloy, C., additional, Areias, J., additional, Bonda, T., additional, Dziemidowicz, M., additional, Hirnle, T., additional, Dmitruk, I., additional, Kaminski, K., additional, Musial, W., additional, Winnicka, M., additional, Villar, A., additional, Merino, D., additional, Ares, M., additional, Pilar, F., additional, Valdizan, E., additional, Hurle, M., additional, Nistal, J., additional, Vera, V., additional, Karuppasamy, P., additional, Chaubey, S., additional, Dew, T., additional, Sherwood, R., additional, Desai, J., additional, John, L., additional, Marber, M., additional, Kunst, G., additional, Cipolletta, E., additional, Attanasio, A., additional, Del Giudice, C., additional, Campiglia, P., additional, Illario, M., additional, Berezin, A., additional, Koretskaya, E., additional, Bishop, E., additional, Fearon, I., additional, Heger, J., additional, Warga, B., additional, Abdallah, Y., additional, Meyering, B., additional, Schlueter, K., additional, Piper, H., additional, Euler, G., additional, Lavorgna, A., additional, Cecchetti, S., additional, Rio, T., additional, Coluzzi, G., additional, Carrozza, C., additional, Conti, E., additional, Andreotti, F., additional, Glavatskiy, A., additional, Uz, O., additional, Kardesoglu, E., additional, Yiginer, O., additional, Bas, S., additional, Ipcioglu, O., additional, Ozmen, N., additional, Aparci, M., additional, Cingozbay, B., additional, Ivanes, F., additional, Hillaert, M., additional, Susen, S., additional, Mouquet, F., additional, Doevendans, P., additional, Jude, B., additional, Montalescot, G., additional, Van Belle, E., additional, Castellani, C., additional, Angelini, A., additional, De Boer, O., additional, Van Der Loos, C., additional, Gerosa, G., additional, Van Der Wal, A., additional, Dumitriu, I., additional, Baruah, P., additional, Kaski, J., additional, Maytham, O., additional, D Smith, J., additional, Rose, M., additional, Cappelletti, A., additional, Pessina, A., additional, Mazzavillani, M., additional, Calori, G., additional, Margonato, A., additional, Cassese, S., additional, D'anna, C., additional, Leo, A., additional, Silenzi, A., additional, Baca', M., additional, Biasucci, L., additional, Baller, D., additional, Gleichmann, U., additional, Holzinger, J., additional, Bitter, T., additional, Horstkotte, D., additional, Antonopoulos, A., additional, Miliou, A., additional, Triantafyllou, C., additional, Masson, W., additional, Siniawski, D., additional, Sorroche, P., additional, Casanas, L., additional, Scordo, W., additional, Krauss, J., additional, Cagide, A., additional, Huang, T., additional, Wiedon, A., additional, Lee, S., additional, Walker, K., additional, O'dea, K., additional, Perez Berbel, P., additional, Arrarte Esteban, V., additional, Garcia Valentin, M., additional, Sola Villalpando, M., additional, Lopez Vaquero, C., additional, Caballero, L., additional, Quintanilla Tello, M., additional, Sogorb Garri, F., additional, Duerr, G., additional, Elhafi, N., additional, Bostani, T., additional, Swieny, L., additional, Kolobara, E., additional, Welz, A., additional, Roell, W., additional, Dewald, O., additional, Kaludercic, N., additional, Takimoto, E., additional, Nagayama, T., additional, Chen, K., additional, Shih, J., additional, Kass, D., additional, Di Lisa, F., additional, Paolocci, N., additional, Vinet, L., additional, Pezet, M., additional, Briec, F., additional, Previlon, M., additional, Rouet-Benzineb, P., additional, Hivonnait, A., additional, Charpentier, F., additional, Mercadier, J., additional, Cobo, M., additional, Llano, M., additional, Montalvo, C., additional, Exposito, V., additional, Meems, L., additional, Westenbrink, B., additional, Biesmans, L., additional, Bito, V., additional, Driessen, R., additional, Huysmans, C., additional, Mourouzis, I., additional, Pantos, C., additional, Galanopoulos, G., additional, Gavra, M., additional, Perimenis, P., additional, Spanou, D., additional, Cokkinos, D., additional, Panasenko, T., additional, Partsch, S., additional, Harjung, C., additional, Bogdanova, A., additional, Mihov, D., additional, Mocharla, P., additional, Yakushev, S., additional, Vogel, J., additional, Gassmann, M., additional, Tavakoli, R., additional, Johansen, D., additional, Sanden, E., additional, Xi, C., additional, Sundset, R., additional, Ytrehus, K., additional, Bliksoen, M., additional, Rutkovskiy, A., additional, Mariero, L., additional, Vaage, I., additional, Stenslokken, K., additional, Pisarenko, O., additional, Shulzhenko, V., additional, Studneva, I., additional, Serebryakova, L., additional, Tskitishvili, O., additional, Pelogeykina, Y., additional, Timoshin, A., additional, Vanin, A., additional, Ziberna, L., additional, Lunder, M., additional, Drevensek, G., additional, Passamonti, S., additional, Gorza, L., additional, Ravara, B., additional, Scapin, C., additional, Vitadello, M., additional, Zigrino, F., additional, Gwathmey, J., additional, Del Monte, F., additional, Vilahur, G., additional, Juan-Babot, O., additional, Onate, B., additional, Casani, L., additional, Lemoine, S., additional, Calmettes, G., additional, Jaspard-Vinassa, B., additional, Duplaa, C., additional, Couffinhal, T., additional, Diolez, P., additional, Dos Santos, P., additional, Fusco, A., additional, Sorriento, D., additional, Cervero, P., additional, Feliciello, A., additional, Barnucz, E., additional, Kozichova, K., additional, Hlavackova, M., additional, Neckar, J., additional, Kolar, F., additional, Novakova, O., additional, Novak, F., additional, Barsanti, C., additional, Abraham, N., additional, Muntean, D., additional, Mirica, S., additional, Duicu, O., additional, Raducan, A., additional, Hancu, M., additional, Fira-Mladinescu, O., additional, Ordodi, V., additional, Voelkl, J., additional, Haubner, B., additional, Neely, G., additional, Moriell, C., additional, Seidl, S., additional, Pachinger, O., additional, Penninger, J., additional, and Metzler, B., additional

Published
2010
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38. Increased Levels of IGF-1 and Beta2-Microglobulin in Epithelial Lining Fluid of Preterm Newborns Developing Chronic Lung Disease: Effects of rhG-CSF

Author

Capoluongo, E., primary, Vento, G., additional, Ameglio, F., additional, Lulli, P., additional, Matassa, P.G., additional, Carrozza, C., additional, Santini, S.A., additional, Antenucci, M., additional, Castagnola, M., additional, Giardina, B., additional, Romagnoli, C., additional, and Zuppi, C., additional

Published
2006
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40. Neuroendocrine and Psychological Assessment in a Guinness 10 Days Scuba Dive.

Author

Reveili, L., Addolorato, C., D'Amore, A., Carrozza, C., Giubileo, C., Puiu, A., Lombardi, C. P., Bellantone, R., and Casbarrini, C.

Subjects
PHYSIOLOGICAL stress, PSYCHOLOGICAL stress, SCUBA divers, PATHOLOGICAL physiology, SCUBA diving, BLOOD testing, HYDROCORTISONE, PROLACTIN, ANXIETY, MENTAL depression
Abstract

This study was designed to evaluate physiological and psychological stress parameters in 2 professional trained scuba divers, using a unique physiopathologic model, offered by the guinness 240 hours scuba dive. Two scuba dive masters have spent 240 hours at 6-8 meters depth (26.4 ft) in Ponza Island water (Italy). Blood samples were collected daily in the underwater bell; samples were carried out of water in waterproof bags. Breath samples were collected, measuring ethylene release. Psychological assessment was performed using the State and Trait Anxiety Inventory and the Zung self-rating depression scale. In the studied subjects, cortisol and prolactin showed physiological pulsatile secretion. Breath ethylene didn't exceed normal values. At the start of the study, no subjects showed high levels of state anxiety, trait anxiety and current depression. Psychometric scales scores remained steady during the diving period and no subjects showed anxiety and/or depression and/or panic symptoms during the time of observation. The present study shows that, although the long-time diving, well trained professional divers did not develop anxiety and/or depression. No subject discontinued the diving due to occurred psychological disorders or systemic events. The present report shows that the long-term diving permanence is possible, at least in well trained scuba divers. [ABSTRACT FROM AUTHOR]

Published
2007
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42. Thyroid scintigraphy: An old tool is still the gold standard for an effective diagnosis of autonomously functioning thyroid nodules

Author

Ianni, F., Perotti, G., Prete, A., Paragliola, R., Ricciato, M., Carrozza, C., Salvatori, M., Pontecorvi, A., and Corsello, S.

Abstract

Background:Patients with autonomously functioning thyroid nodules (AFTN) may not have an abnormal TSH value, particularly in iodine-deficient areas. Aim:To verify the accuracy of TSH as screening test in detecting AFTN and to evaluate ultrasonographic features of thyroid nodules which have resulted autonomously functioning at thyroid scintigraphy (TS). Methods:Seventy-eight patients with nodular goiter, no marker of autoimmunity and at least one AFTN at TS were selected and divided in: Group 1 (no.=25) with TSH>0.35 IU/l, and Group 2 (no.=53) with TSH≤0.35 IU/l. Results:In Group1 the mean nodule diameter was 19.8±9.4 mm; 12 nodules were isoechoic, 2 hyperechoic, and 11 hypoechoic. Vascular pattern was type I in 4, type II in 6 and type III in 15 nodules. In Group 2 the mean nodule diameter was 28.6±14.2 mm; 27 nodules were isoechoic, 9 hyperechoic and 17 hypoechoic. Vascular pattern was type I in 14, type II in 15 and type III in 24 nodules. Conclusion:In our study TSH alone was not able to identify AFTN in 32% of the patients. All hot nodules predominantly showed an isoechoic pattern with peri-intranodular vascularization; however, the presence of this pattern was not statistically significant. Moreover, we noticed a weak inverse correlation between the diameter of AFTN and TSH level. In conclusion, TS is the most sensitive tool to detect AFTN, allowing a precocious diagnosis even in the presence of a normal TSH value.

Published
2013
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44. Cannibals

Author

Carrozza, C.

Subjects
Home Computers, Computer Game, Review, Video Games, Tutorial, Software, Color, Computer Graphics, Music, Audio Response
Published
1984

45. Prospective study of bone loss in pre- and post-menopausal women on L-thyroxine therapy for non-toxic goitre

Author

Rosa, G. de, Testa, A., Giacomini, D., Carrozza, C., Astazi, P., and Caradonna, P.

Abstract

OBJECTIVE
Hyperthyroidism is associated with increased bone turnover and bone resorption, but the effects of suppressive doses of thyroxine in treating non-toxic goitre remain unclear. We carried out a longitudinal study to evaluate the effect on bone of L-thyroxine (L-T4) therapy in women with non-toxic goitre. SUBJECTS
Forty Caucasian women, 19 of whom were pre-menopausal and 21 post-menopausal, were studied before and after 12 months' L-T4 therapy for non-toxic goitre; 40 women matched for age, body mass index and menopausal status were used as controls. DESIGN
The minimal dosage of L-T4 (mean ± standard error = 1.5 ± 0.1 mug/kg-1 day-1) was given to each patient to obtain subnormal but detectable serum TSH (&lt; 0.2 mU/l). Patients and controls were assessed for minor determinants of bone loss rate, such as genetic and behavioural factors. MEASUREMENTS
Bone mineral density (BMD) of the lumbar spine, femoral neck, trochanter and Ward's triangle was measured by dual-energy X-ray absorptiometry at baseline and 12 months; serum and urine markers of bone turnover was measured at baseline, 3, 6 and 12 months. RESULTS
No significant difference was detected in BMD values between patients and controls either at presentation or at the 12-month follow-up. Pre-menopausal patients showed a significant decrease in femoral neck BMD (-1.7 ± 0.6%, P &lt; 0.05) while controls showed no change + 0.2 ± 0.9%, P = NS). Post-menopausal patients showed a significant decrease in BMD of the lumbar spine (-1.3 ± 0.6%, P &lt; 0.05; controls + 0.0 ± 0.4%, P = NS), femoral neck (-1.5 ± 0.6%, P &lt; 0.05; controls -1.2 ± 0.8%, P = NS) and trochanter (-2.1 ± 0.8%, P &lt; 0.05; controls -1.4 ± 0.9%, P = NS). In both pre- and post-menopausal patients the serum markers of bone turnover, alkaline phosphatase and osteocalcin, showed an early and progressive increase. A linear relationship was found only between the 3-month values of serum osteocalcin and the urine hydroxyproline/creatinine ratio in both pre-menopausal (r = 0.87, P &lt; 0.01) and post-menopausal (r = 0.72, P &lt; 0.05) patients. No correlation was found between bone loss or changes in bone turnover markers and L-T4 dose or thyroid hormone levels. CONCLUSION
This longitudinal study suggests that TSH-suppressive therapy with L-thyroxine for non-toxic goitre significantly increases the bone mineral turnover and might contribute to a BMD reduction, more marked on cortical bone, in both pre- and post-menopausal women.

Published
1997
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48. Synthesis of sulfur-rich polymers: Copolymerization of cyclohexene sulfide and carbon disulfide using chromium complexes

Author

Alberto de Angelis, Chiara Francesca Carrozza, Incoronata Tritto, Selena Silvano, Simona Losio, Laura Boggioni, Silvano, S, Carrozza, C, de Angelis, A, Tritto, I, Boggioni, L, and Losio, S

Subjects
Polymers and Plastics, Sulfide, Polymers, Cyclohexene, chemistry.chemical_element, 02 engineering and technology, 010402 general chemistry, 01 natural sciences, Catalysis, Inorganic Chemistry, chemistry.chemical_compound, Chromium, Copolymerization, Polymer chemistry, Materials Chemistry, Copolymer, Selectivity, COS, chemistry.chemical_classification, Carbon disulfide, Catalysts, Copolymers, Organic Chemistry, CYCLIC TRITHIOCARBONATES, OXIDE, COCATALYST, 021001 nanoscience & nanotechnology, Sulfur, 0104 chemical sciences, POLYMERIZATION, chemistry, Polymerization, REFRACTIVE-INDEX, EPOXIDES, 0210 nano-technology, CS2, DIOXIDE, POLYCARBONATES
Abstract

An investigation of the copolymerization of cyclohexene sulfide and carbon disulfide using salphen and salen Cr complexes as catalysts and [PPN]+X- salts as cocatalysts, at different temperatures and reaction times, is reported. Both catalytic systems produce both polymer and cyclic products. For the first time, poly(trithiocyclohexylcarbonates) (PCS) have been synthetized in high yields and high molecular weights. Salphen-based catalysts, in comparison with salen-based ones, show higher productivity and selectivity for polymers with high molecular weight up to 18 kg/mol when the reaction is carried out at 25 °C. At a higher temperature with (salphen)CrCl, the maximum value of selectivity for copolymers (72%) was obtained at a short reaction time (3 h). At long reaction times, great amounts of cyclic by-product are observed, thus evidencing the tendency for cyclohexene sulfide and CS2 to provide cyclic products due to the stability of the trithiocyclohexylcarbonate. PCS possesses high refractive index (n > 1.72), and antimicrobial assays reveal that these materials are active against Escherichia coli and moderately active against Staphylococcus aureus. These properties along with the Tg values of 80 °C make these polymers suitable for interesting applications different from those of poly(trithiopropylencarbonate).

Published
2020
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50. CYP21A2 intronic variants causing 21-hydroxylase deficiency

Author

Cecilia Zuppi, Ettore Capoluongo, Roberta Rizza, Alessandra Costella, Paola Concolino, Cinzia Carrozza, Concolino, P, Rizza, R, Costella, A, Carrozza, C, Zuppi, C, and Capoluongo, E

Subjects
0301 basic medicine, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Pseudogene, GENOTYPE-PHENOTYPE CORRELATION, Biology, urologic and male genital diseases, 03 medical and health sciences, Endocrinology, Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Internal medicine, medicine, Humans, Intronic variant, Congenital adrenal hyperplasia, Gene conversion, Pathology, Molecular, Allele, Gene, 21-Hydroxylase deficiency, Genetics, Adrenal Hyperplasia, Congenital, 21-Hydroxylase, Genetic Variation, medicine.disease, Molecular biology, Phenotype, Introns, Molecular diagnosi, 030104 developmental biology, RNA splicing, biology.protein, Steroid 21-Hydroxylase, Splicing mutation, CONGENITAL ADRENAL-HYPERPLASIA
Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date. In addition, we describe three novel causing disease variants in our patients affected by the classic form of CAH: IVS4-1G > A, IVS5-8 T > A, IVS8-2A > G. In silico analysis revealed that all these substitutions affect the splicing process leading to a nonfunctional protein. Based on these results, we are able to classify them as pathological variants according to the patient's phenotype. (C) 2017 Elsevier Inc. All rights reserved.

Published
2017

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