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3. Attività lavorativa e livelli di fenilalanina in una popolazione di giovani adulti affetti da fenilchetonuria classica

Author

Riva, M, Madotto, F, Turato, M, Salvatici, E, Indovina, S, D'Orso, M, Giovannini, M, Riva, E, Cesana, G, RIVA, MICHELE AUGUSTO, MADOTTO, FABIANA, Indovina,S, D'ORSO, MARCO ITALO, CESANA, GIANCARLO, Riva, M, Madotto, F, Turato, M, Salvatici, E, Indovina, S, D'Orso, M, Giovannini, M, Riva, E, Cesana, G, RIVA, MICHELE AUGUSTO, MADOTTO, FABIANA, Indovina,S, D'ORSO, MARCO ITALO, and CESANA, GIANCARLO

Published
2016

6. Work activity and phenylalanine levels in a population of young adults with classic PKU

Author

Riva, M, Madotto, F, Turato, M, Salvatici, E, Indovina, S, Giovannini, M, Riva, E, Cesana, G, RIVA, MICHELE AUGUSTO, MADOTTO, FABIANA, CESANA, GIANCARLO, Riva, M, Madotto, F, Turato, M, Salvatici, E, Indovina, S, Giovannini, M, Riva, E, Cesana, G, RIVA, MICHELE AUGUSTO, MADOTTO, FABIANA, and CESANA, GIANCARLO

Abstract

Background: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe). Objectives: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations. Methods: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment. Univariate linear-mixed models and multivariate analysis were applied to assess the association between Phe blood levels and individual covariates: age, sex, time at diagnosis, educational level and work characteristics. Results: A linear relationship was found with age (an average annual increase of 30.56 mu Mol/L (C.I. 95%: 7.53; 53.60) in the mean Phe blood levels). Full-time work appeared to be associated with a worse metabolic compliance when compared to part-time work (mean Phe blood levels > 281.11 mu Mol/L). Shift work was related to a worse metabolic compliance, with mean Phe plasmatic levels > 356.73 mu Mol/L. Conclusions: Our data suggests that work may influence the metabolic compliance in adults with PKU. In particular, a part-time employment could allow for a better metabolic compliance, while daily work should be preferred to shift work.

Published
2017

7. L'attivazione di un percorso riabilitativo dedicato agli operatori sanitari affetti da patologie muscolo-scheletriche: primi risultati di una esperienza condotta in un grande ospedale lombardo

Author

Rodella, C, Mauri, O, RIVA, MICHELE AUGUSTO, Gaiani, E, Indovina, S, Latocca, R, D'ORSO, MARCO ITALO, CESANA, GIANCARLO, Rodella, C, Mauri, O, Riva, M, Gaiani, E, D'Orso, M, Indovina, S, Latocca, R, and Cesana, G

Subjects
MED/44 - MEDICINA DEL LAVORO, sorveglianza sanitaria, patologie muscolo-scheletriche, riabilitazione
Published
2013

8. Assessment of the awareness and management of cardiovascular complications of acromegaly in Italy. The COM.E.T.A. (COMorbidities Evaluation and Treatment in Acromegaly) Study

Author

Giustina, A., Mancini, T., Boscani, P. F., De Menis, E., Degli Uberti, E., Ghigo, E., Martino, E., Minuto, F., Colao, A., Comorbidities Evaluation, Com E. T. A., Treatment Inacromegaly Italian Study Group, Aimaretti, G., Ambrosio, M. R., Andreani, M., Angeletti, G., Appetecchia, M. L., Armigliato, M., Arnaldi, G., Arosio, M., Babini, A., Baldi, F., Balza, G., Barbaro, D., Bartalena, L., Battista, C., Bechi, R., Beck Peccoz, P., Bellastella, A., Bevilacqua, M., Boccuzzi, G., Boffano, G. M., Bondanelli, M., Borretta, G., Boscaro, M., Buschini, M., Campanini, M., Cannavo, S., Carani, C., Carpenito, F., Carzaniga, C., Castelli, A., Cavagnini, F., Chiarini, V., Chiodera, P., Colombo, M., Colombo, P., Coppola, A., Cozzi, R., Crivellaro, C., D'Antonio, R., Davi, M., De Marinis, L., De Matte, S., De Remigis, P., Del Monte, P., Delitala, G., Doveri, G., D'Ulizia, M., Favro, S., Ferone, D., Fidotti, E., Formoso, G., Francia, G., Frigato, F., Furlani, L., Galuzzo, A., Gargiulo, P., Gasperoni, P., Gazzaruso, C., Giorgino, F., Grandi, M., Grimaldi, F., Indovina, S., Lanzi, R., Legovini, P., Limone, P., Liuzzi, A., Lo Cascio, V., Lo Coco, R., Loli, P., Mantero, F., Marchetti, M., Mariotti, S., Masala, A., Meringolo, D., Monachesi, M., Montini, M., Moretti, C., Muggeo, M., Mulas, G., Nizzolo, M., Oleandri, S., Orio, F., Orlandi, F., Pacini, F., Palermo, M., Pancotti, D., Paoletta, A., Papini, E., Parillo, M., Parisi, G., Pasquali, R., Pavoncello, S., Perego, M. R., Peri, A., Peri, D., Piantoni, L., Raffa, M., Raggiunti, B., Resmini, E., Rizzi, G., Rosatello, A., Rosato, F., Savino, L., Scaroni, C., Sinisi, A., Stefani, I., Tamburrano, G., Tanda, M., Terzolo, M., Testa, I., Testa, R., Testori, G., Toscano, Vincenzo, Tota, N., Travaglini, P., Vailati, A., Valcavi, R., Ventre, I., Vincenzi, W., Vitale, G., A., Giustina, T., Mancini, P. F., Boscani, E., de Meni, E., degli Uberti, E., Ghigo, E., Martino, F., Minuto, Colao, Annamaria, Giustina A, Mancini T, Boscani PF, de Menis E, degli Uberti E, Ghigo E, Martino E, Minuto F, Colao A, Aimaretti G, Ambrosio MR, Andreani M, Angeletti G, Appetecchia ML, Armigliato M, Arnaldi G, Arosio M, Babini A, Baldi F, Balza G, Barbaro D, Bartalena L, Battista C, Bechi R, Beck-Peccoz P, Bellastella A, Bevilacqua M, Boccuzzi G, Boffano GM, Bondanelli M, Borretta G, Boscaro M, Buschini M, Campanini M, Cannavò S, Carani C, Carpenito F, Carzaniga C, Castelli A, Cavagnini F, Chiarini V, Chiodera P, Colombo M, Colombo P, Coppola A, Cozzi R, Crivellaro C, D'Antonio R, Davì M, De Marinis L, De Mattè S, De Remigis P, Del Monte P, Delitala G, Doveri G, D'Ulizia M, Favro S, Ferone D, Fidotti E, Formoso G, Francia G, Frigato F, Furlani L, Galuzzo A, Gargiulo P, Gasperoni P, Gazzaruso C, Giorgino F, Grandi M, Grimaldi F, Indovina S, Lanzi R, Legovini P, Limone P, Liuzzi A, Lo Cascio V, Lo Coco R, Loli P, Mantero F, Marchetti M, Mariotti S, Masala A, Meringolo D, Monachesi M, Montini M, Moretti C, Muggeo M, Mulas G, Nizzolo M, Oleandri S, Orio F, Orlandi F, Pacini F, Palermo M, Pancotti D, Paoletta A, Papini E, Parillo M, Parisi G, Pasquali R, Pavoncello S, Perego MR, Peri A, Peri D, Piantoni L, Raffa M, Raggiunti B, Resmini E, Rizzi G, Rosatello A, Rosato F, Savino L, Scaroni C, Sinisi A, Stefani I, Tamburrano G, Tanda M, Terzolo M, Testa I, Testa R, Testori G, Toscano V, Tota N, Travaglini P, Vailati A, Valcavi R, Ventre I, Vincenzi W, Vitale G., Giustina, Andrea, Mancini, T, Boscani, Pf, DE MENIS, E, DEGLI UBERTI, E, Ghigo, E, Martino, E, Minuto, F, Colao, A, and Italian Study Group, C. O. M. E. T. A.

Subjects
Questionnaires, cardiovascular risk, medicine.medical_specialty, Pathology, Ambulatory blood pressure, Cardiomyopathy, Endocrinology, Diabetes and Metabolism, MEDLINE, Disease, heart, Comorbidity, Left ventricular hypertrophy, NO, Endocrinology, Patient Education as Topic, Surveys and Questionnaires, Acromegaly, medicine, Humans, Intensive care medicine, Awareness, Echocardiography, Hypertension, Questionnaire, business.industry, Cardiovascular Diseases, Epidemiologic Studies, Follow-Up Studies, medicine.disease, Blood pressure, Heart failure, business
Abstract

Background: During the course of acromegaly, cardiovascular, respiratory, and metabolic co-morbidities contribute to enhanced mortality. In 2002, the Pituitary Society and the European Neuroendocrine Association sponsored a Consensus Workshop in Versailles during which guidelines for diagnosis and treatment of co-morbidities in acromegaly were defined. However, as for other guidelines previously issued in the field, no data are available on their clinical application. Aim: The aim of this work coordinated by the Italian Study group on co-morbidities evaluation and treatment in acromegaly (COM.E.T.A.) was to assess, on a national basis, the application in the clinical practice of the Versailles criteria for diagnosis and treatment of cardiovascular comorbities in acromegaly. Materials and methods: In January 2007 an ad hoc designed questionnaire was sent by mail to 130 endocrine Centers in Italy. Results: The guidelines have been generally well perceived and translated in clinical practice. Specifically: 1) echocardiography is considered the mainstay for the diagnosis and follow-up; 2) ambulatory blood pressure monitoring and blood lipid assessment are performed in most hypertensive patients; 3) most endocrinologists directly manage hypertension and are aware of the uncertainty of the effect of the control of the disease on blood pressure levels; 4) ACE inhibitors and angiotensin receptors blockers are first-choice anti-hypertensive treatment; 5) approximately half of the centers consider somatostatin analogues of paramount relevance for biochemical control of disease; 6) awareness that left ventricular hypertrophy and heart failure are the most relevant cardiovascular complications is high although the impact of ischemic, arrhythmic, and valvular complications on prognosis is less well perceived. Conclusion: The results of the present survey suggest that previuosly issued guidelines are generally carefully followed in the clinical practice. On the other side, a certain lack of awareness of emerging aspects of the cardiovascular comorbities of acromegaly confirms the necessity of periodically updating the guidelines based on the availability of new clinical information.

Published
2008

11. In Sicilian ethnic group non-classical congenital adrenal hyperplasia isfrequently associated with a very mild genotype

Author

Wasniewska, Malgorzata Gabriela, DI PASQUALE, G, Rulli, I, Salzano, Giuseppina, Caruso, M, Indovina, S, Pasquale, L, Zirilli, G, and DE LUCA, Filippo

Subjects
Male, medicine.medical_specialty, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Population, Physiology, Biology, Endocrinology, Genotype-phenotype distinction, Gene Frequency, Internal medicine, medicine, Humans, congenital adrenal hyperplasia, Congenital adrenal hyperplasia, Allele, education, Child, Sicily, education.field_of_study, Adrenal Hyperplasia, Congenital, Haplotype, medicine.disease, Phenotype, Mutation (genetic algorithm), Mutation, Female
Abstract

The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In order to confirm that population differences may exist in the genetic basis of this disease, we have analyzed the genetic presentation of NC-CAH in a Sicilian cohort of symptomatic patients and compared our findings with the ones reported in other studies of different ethnic groups. In 38 NC-CAH patients coming from two regions of Sicily and born of Sicilian parents, we found that 84.2% of the chromosomes examined bore only mild mutations and only the remaining 15.8% of the chromosomes bore at least 1 severe mutation. The overall predominant mutation was V281L, which was detected in 73.7% of alleles and in 89.5% of patients. About 58% of the patients were homozygotes for this mutation. V281L allele and homozygote frequencies were higher in the present series than in other European and Italian reports. In our NC-CAH population, which is one of the largest ever reported, the patients with two mild mutations exhibited a less severe impairment of both clinical and endocrine phenotype. On the basis of these results we can conclude that: a) in Sicilian ethnic groups NC-CAH is frequently associated with a very mild genotype; b) the most frequent genotype in our series is V281L homozygosis; c) clinical and biochemical expression of NC-CAH is more marked in the patients bearing a severe mutation; d) no correlations between genotype and phenotype were found in our patients affected by NC-CAH.

Published
2007

17. Work activity and phenylalanine levels in a population of young adults with classic PKU

Author

Michele Augusto, Riva, Fabiana, Madotto, Massimo, Turato, Elisabetta, Salvatici, Silvia, Indovina, Marcello, Giovannini, Enrica, Riva, Giancarlo, Cesana, Riva, M, Madotto, F, Turato, M, Salvatici, E, Indovina, S, Giovannini, M, Riva, E, and Cesana, G

Subjects
Adult, Male, Work, Young Adult, Occupational medicine, Phenylketonurias, Phenylalanine, Humans, Patient Compliance, Phenylketonuria, Female, Rare disease
Abstract

Background: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe). Objectives: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations. Methods: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment. Univariate linear-mixed models and multivariate analysis were applied to assess the association between Phe blood levels and individual covariates: age, sex, time at diagnosis, educational level and work characteristics. Results: A linear relationship was found with age (an average annual increase of 30.56 mu Mol/L (C.I. 95%: 7.53; 53.60) in the mean Phe blood levels). Full-time work appeared to be associated with a worse metabolic compliance when compared to part-time work (mean Phe blood levels > 281.11 mu Mol/L). Shift work was related to a worse metabolic compliance, with mean Phe plasmatic levels > 356.73 mu Mol/L. Conclusions: Our data suggests that work may influence the metabolic compliance in adults with PKU. In particular, a part-time employment could allow for a better metabolic compliance, while daily work should be preferred to shift work.

Published
2017

18. Work activity and phenylalanine levels in a population of young adults with classic PKU.

Author

Riva MA, Madotto F, Turato M, Salvatici E, Indovina S, Giovannini M, Riva E, and Cesana G

Subjects
Adult, Female, Humans, Male, Young Adult, Patient Compliance statistics & numerical data, Phenylalanine blood, Phenylketonurias blood, Phenylketonurias diet therapy, Work
Abstract

Background: Phenylketonuria (PKU) is an inborn error of metabolism characterized by increased blood concentrations of phenylalanine (Phe)., Objectives: The aim of the present study was to assess the association between the metabolic compliance of adult patients affected by classic PKU and the characteristics of their present and past occupations., Methods: The study population consisted of working adults, affected by classic PKU, and following a dietary treatment. Univariate linear-mixed models and multivariate analysis were applied to assess the association between Phe blood levels and individual covariates: age, sex, time at diagnosis, educational level and work characteristics., Results: A linear relationship was found with age (an average annual increase of 30.56 μMol/L (C.I. 95%: 7.53; 53.60) in the mean Phe blood levels). Full-time work appeared to be associated with a worse metabolic compliance when compared to part-time work (mean Phe blood levels >281.11 μMol/L). Shift work was related to a worse metabolic compliance, with mean Phe plasmatic levels >356.73 μMol/L., Conclusions: Our data suggests that work may influence the metabolic compliance in adults with PKU. In particular, a part-time employment could allow for a better metabolic compliance, while daily work should be preferred to shift work.

Published
2017
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