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1. Do patients' and referral centers' characteristics influence multiple sclerosis phenotypes? Results from the Italian multiple sclerosis and related disorders register

Author

Bergamaschi, Roberto, Beghi, Ettore, Bosetti, Cristina, Ponzio, Michela, Santucci, Claudia, Lepore, Vito, Mosconi, Paola, Aguglia, U, Amato, M P, Ancona, A L, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bergamaschi, R, Bertora, P, Bianchi, M, Bramanti, P, Morra, V Brescia, Brichetto, G, Brioschi, A M, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capobianco, M, Capone, F, Capone, L, Cargnelutti, D, Carrozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M G, Clerici, R, Clerico, M, Cocco, E, Confalonieri, P, Coniglio, M G, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M C, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Corte, M Della, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferrò, M T, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M F, Grasso, M G, Grimaldi, L M E, Iaffaldano, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Luezzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G T, Marfia, G A, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Passantino, F, Patti, F, Peresson, M, Pesci, I, Piantadosi, C, Piras, M L, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Romeo, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Santuccio, G, Sarchielli, P, Sinisi, L, Sola, P, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Tonietti, S, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Ulivelli, M, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Trojano, Maria, Battaglia, Mario Alberto, Capobianco, Marco, Pugliatti, Maura, Ulivelli, Monica, Gasperini, Claudio, Patti, Francesco, Amato, Maria Pia, Comi, Giancarlo, Bergamaschi, R, Beghi, E, Bosetti, C, Ponzio, M, Santucci, C, Lepore, V, Mosconi, P, Aguglia, U, Amato, M, Ancona, A, Ardito, B, Avolio, C, Balgera, R, Banfi, P, Barcella, V, Barone, P, Bellantonio, P, Berardinelli, A, Bertora, P, Bianchi, M, Bramanti, P, Morra, V, Brichetto, G, Brioschi, A, Buccafusca, M, Bucello, S, Busillo, V, Calchetti, B, Cantello, R, Capobianco, M, Capone, F, Capone, L, Cargnelutti, D, Carrozzi, M, Cartechini, E, Cavaletti, G, Cavalla, P, Celani, M, Clerici, R, Clerico, M, Cocco, E, Confalonieri, P, Coniglio, M, Conte, A, Corea, F, Cottone, S, Crociani, P, D'Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Riz, M, De Robertis, F, De Rosa, G, De Stefano, N, Corte, M, Di Sapio, A, Docimo, R, Falcini, M, Falcone, N, Fermi, S, Ferraro, E, Ferrò, M, Fortunato, M, Foschi, M, Gajofatto, A, Gallo, A, Gallo, P, Gatto, M, Gazzola, P, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Iaffaldano, P, Imperiale, D, Inglese, M, Iodice, R, Leva, S, Luezzi, V, Lugaresi, A, Lus, G, Maimone, D, Mancinelli, L, Maniscalco, G, Marfia, G, Marini, B, Marson, A, Mascoli, N, Massacesi, L, Melani, F, Merello, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Nicolao, P, Passantino, F, Patti, F, Peresson, M, Pesci, I, Piantadosi, C, Piras, M, Pizzorno, M, Plewnia, K, Pozzilli, C, Protti, A, Quatrale, R, Realmuto, S, Ribizzi, G, Rinalduzzi, S, Rini, A, Romano, S, Romeo, M, Ronzoni, M, Rossi, P, Rovaris, M, Salemi, G, Santangelo, G, Santangelo, M, Santuccio, G, Sarchielli, P, Sinisi, L, Sola, P, Solaro, C, Spitaleri, D, Strumia, S, Tassinari, T, Tonietti, S, Tortorella, C, Totaro, R, Tozzo, A, Trivelli, G, Ulivelli, M, Valentino, P, Venturi, S, Vianello, M, Zaffaroni, M, Zarbo, R, Trojano, M, Battaglia, M, Pugliatti, M, Gasperini, C, Comi, G, Bergamaschi, Roberto, Beghi, Ettore, Bosetti, Cristina, Ponzio, Michela, Santucci, Claudia, Lepore, Vito, Mosconi, Paola, Amato, M P, Ancona, A L, Morra, V Brescia, Brioschi, A M, Celani, M G, Coniglio, M G, Danni, M C, Corte, M Della, Ferrò, M T, Grasso, M F, Grasso, M G, Grimaldi, L M E, Maniscalco, G T, Marfia, G A, Piras, M L, Trojano, Maria, Battaglia, Mario Alberto, Capobianco, Marco, Pugliatti, Maura, Ulivelli, Monica, Gasperini, Claudio, Patti, Francesco, Amato, Maria Pia, and Comi, Giancarlo

Subjects
Multiple Sclerosis, Centers’ characteristics, Italian Multiple Sclerosis Register, Multiple sclerosis phenotypes, Real-world data, Settore MED/42 - Igiene Generale e Applicata, Dermatology, General Medicine, Multiple Sclerosis, Chronic Progressive, Settore MED/26, Settore SECS-S/04 - Demografia, Multiple sclerosis phenotype, Settore MED/01 - Statistica Medica, Psychiatry and Mental health, Multiple Sclerosis, Relapsing-Remitting, Phenotype, Recurrence, Humans, Female, Settore MED/26 - Neurologia, Neurology (clinical), Centers’ characteristic, Referral and Consultation
Abstract

Background Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. Methods This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000–2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing–remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers’ characteristics, geographic macro-areas, and Deprivation Index. We computed the odds ratios (OR) for CIS, PP/PR, and SP phenotypes, compared to the RR, using multivariate, multinomial, mixed effects logistic regression models. Results In all 35,243 patients from 106 centers were included. The OR of presenting more advanced MS phenotypes than the RR phenotype at first visit significantly diminished in relation to calendar period. Females were at a significantly lower risk of a PP/PR or SP phenotype. Older age was associated with CIS, PP/PR, and SP. The risk of a longer interval between disease onset and first visit was lower for the CIS phenotype, but higher for PP/PR and SP. The probability of SP at first visit was greater in the South of Italy. Discussion Differences in the phenotype of MS patients first seen in Italian centers can be only partly explained by differences in the centers’ characteristics. The demographic and socio-economic characteristics of MS patients seem to be the main determinants of the phenotypes at first referral.

Published
2022

2. The Italian multiple sclerosis register

Author

Trojano, M, Bergamaschi, R, Amato, Mp, Comi, G, Ghezzi, A, Lepore, V, 7, Marrosu, Mg, Mosconi, P, Patti, F, Ponzio, M, Zaratin, P, Battaglia, Ma1, Acquistapace D, Italian Multiple Sclerosis Register Centers Group., Aguglia, U, Annunziata, P, Ardito, B, Avolio, C, Balgera, R, Bandini, F, Banfi, P, Barone, P, Bellantonio, P, Bertolotto, A, Bertora, P, Bombardi, R, Bosco Zimatore, G, Bossio, Rb, Bramanti, P, Brescia Morra, V, Brioschi, Am, Bruzzone, M, Buccafusca, M, Busillo, V, Caneve, G, Caniatti, Lm, Capone, L, Capone, F, Cappellani, A, Cargnelutti, D, Cavaletti, G, Cavalla, P, Celani, Mg, Centonze, D, Chiveri, L, Clerici, R, Clerico, M, Cocco, E, Comi, C, Coniglio, Mg, Cordera, S, Corea, F, Cortese, A, Costantino, G, Cottone, S, Crociani, P, D'Andrea, F, Danni, Mc, De Luca, G, de Pascalis, D, De Robertis, F, De Stefano, N, Di Battista, G, Di Napoli, M, Falcini, M, Fausto, F, Ferrò, Mt, Florio, C, Fortunato, M, Frittelli, C, Galgani, S, Gallo, P, Gatto, M, Gazzola, P, Geda, C, Giordano, A, Granella, F, Grasso, Mg, Grimaldi, Lme, Imperiale, D, Lo Russo, L, Logullo, Fo, Lugaresi, A, Lus, G, Maccarrone, G, Maimone, D, Malagù, S, Marconi, R, Maritato, P, Massacesi, L, Mazzoni, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Neri, W, Orefice, G, Parodi, S, Pasquali, L, Passarella, B, Peresson, M, Perla, F, Pesci, I, Piantadosi, C, Piras, Ml, Pizio, Nr, Pozzilli, C, Protti, A, Pugliatti, M, Quatrale, R, Ragno, M, Rezzonico, M, Ribizzi, G, Riva, M, Ronzoni, M, Rosso, Mg, Rottoli, M, Rovaris, M, Salemi, G, Salvetti, M, Santangelo, M, Santangelo, G, Santuccio, G, Sarchielli, P, Scarpini, E, Sechi, Gp, Severi, S, Sinisi, L, Sola, P, Spitaleri, D, Tassinari, T, Tedeschi, G, Tonietti, S, Torri Clerici, V, Totaro, R, Traccis, S, Turla, M, Uccelli, A, Ulivelli, M, Valentino, P, Valeriani, M, Venturi, S, Vianello, M, Zaffaroni, M., Trojano M., Bergamaschi R., Amato M.P., Comi G., Ghezzi A., Lepore V., Marrosu M.G., Mosconi P., Patti F., Ponzio M., Zaratin P., Battaglia M.A., Acquistapace D., Aguglia U., Annunziata P., Ardito B., Avolio C., Balgera R., Bandini F., Banfi P., Barone P., Bellantonio P., Bertolotto A., Bertora P., Bombardi R., Bosco Zimatore G., Bossio R.B., Bramanti P., Brescia Morra V., Brioschi A.M., Bruzzone M., Buccafusca M., Busillo V., Caneve G., Caniatti L.M., Capone L., Capone F., Cappellani A., Cargnelutti D., Cavaletti G., Cavalla P., Celani M.G., Centonze D., Chiveri L., Clerici R., Clerico M., Cocco E., Comi C., Coniglio M.G., Cordera S., Corea F., Cortese A., Costantino G., Cottone S., Crociani P., D'Andrea F., Danni M.C., De Luca G., de Pascalis D., De Robertis F., De Stefano N., Di Battista G., Di Napoli M., Falcini M., Fausto F., Ferro M.T., Florio C., Fortunato M., Frittelli C., Galgani S., Gallo P., Gatto M., Gazzola P., Geda C., Giordano A., Granella F., Grasso M.G., Grimaldi L.M.E., Imperiale D., Lo Russo L., Logullo F.O., Lugaresi A., Lus G., Maccarrone G., Maimone D., Malagu S., Marconi R., Maritato P., Massacesi L., Mazzoni M., Meucci G., Mirabella M., Montepietra S., Nasuelli D., Neri W., Orefice G., Parodi S., Pasquali L., Passarella B., Peresson M., Perla F., Pesci I., Piantadosi C., Piras M.L., Pizio N.R., Pozzilli C., Protti A., Pugliatti M., Quatrale R., Ragno M., Rezzonico M., Ribizzi G., Riva M., Ronzoni M., Rosso M.G., Rottoli M., Rovaris M., Salemi G., Salvetti M., Santangelo M., Santangelo G., Santuccio G., Sarchielli P., Scarpini E., Sechi G.P., Severi S., Sinisi L., Sola P., Spitaleri D., Tassinari T., Tedeschi G., Tonietti S., Torri Clerici V., Totaro R., Traccis S., Turla M., Uccelli A., Ulivelli M., Valentino P., Valeriani M., Venturi S., Vianello M., Zaffaroni M., Trojano M, Bergamaschi R, Amato M.P, Comi G, Ghezzi A, Lepore V, Marrosu M.G, Mosconi P, Patti F, Ponzio M, Zaratin P, Battaglia M.A, Acquistapace D., Aguglia U., Annunziata P., Ardito B., Avolio C., Balgera R., Bandini F., Banfi P., Barone P., Bellantonio P., Bertolotto A., Bertora P., Bombardi R., Bosco Zimatore G., Bossio R.B., Bramanti P., Brescia Morra V., Brioschi A.M., Bruzzone M., Buccafusca M., Busillo V., Caneve G., Caniatti L.M., Capone L., Capone F., Cappellani A., Cargnelutti D., Cavaletti G., Cavalla P., Celani M.G., Centonze D., Chiveri L., Clerici R., Clerico M., Cocco E., Comi C., Coniglio M.G., Cordera S., Corea F., Cortese A., Costantino G., Cottone S., Crociani P., D’Andrea F., Danni M.C., De Luca G., de Pascalis D., De Robertis F., De Stefano N., Di Battista G., Di Napoli M., Falcini M., Fausto F., Ferrò M.T., Florio C., Fortunato M., Frittelli C., Galgani S., Gallo P., Gatto M., Gazzola P., Geda C., Giordano A., Granella F., Grasso M.G., Grimaldi L.M.E., Imperiale D., Lo Russo L., Logullo F.O., Lugaresi A., Lus G., Maccarrone G., Maimone D., Malagù S., Marconi R., Maritato P., Massacesi L., Mazzoni M., Meucci G., Mirabella M., Montepietra S., Nasuelli D., Neri W., Orefice G., Parodi S., Pasquali L., Passarella B., Peresson M., Perla F., Pesci I., Piantadosi C., Piras M.L., Pizio N.R., Pozzilli C., Protti A., Pugliatti M., Quatrale R., Ragno M., Rezzonico M., Ribizzi G., Riva M., Ronzoni M., Rosso M.G., Rottoli M., Rovaris M., Salemi G., Salvetti M., Santangelo M., Santangelo G., Santuccio G., Sarchielli P., Scarpini E., Sechi G.P., Severi S., Sinisi L., Sola P, Spitaleri D., Tassinari T., Tedeschi G., Tonietti S., Torri Clerici V., Totaro R., Traccis S., Turla M., Uccelli A., Ulivelli M., Valentino P., Valeriani M., Venturi S., Vianello M., Zaffaroni M., Trojano, Maria, Bergamaschi, Roberto, Amato, Maria Pia, Comi, Giancarlo, Ghezzi, Angelo, Lepore, Vito, Marrosu, Maria Giovanna, Mosconi, Paola, Patti, Francesco, Ponzio, Michela, Zaratin, Paola, Battaglia, Mario Alberto, Acquistapace, D, Aguglia, U, Amato, Mp, Annunziata, P, Ardito, B, Avolio, C, Balgera, R, Bandini, F, Banfi, P, Barone, P, Bellantonio, P, Bergamaschi, R, Bertolotto, A, Bertora, P, Bombardi, R, Bosco Zimatore, G, Bossio, Rb, Bramanti, P, Brescia Morra, V, Brioschi, Am, Bruzzone, M, Buccafusca, M, Busillo, V, Caneve, G, Caniatti, Lm, Capone, L, Capone, F, Cappellani, A, Cargnelutti, D, Cavaletti, G, Cavalla, P, Celani, Mg, Centonze, D, Chiveri, L, Clerici, R, Clerico, M, Cocco, E, Comi, G, Comi, C, Coniglio, Mg, Cordera, S, Corea, F, Cortese, A, Costantino, G, Cottone, S, Crociani, P, D'Andrea, F, Danni, Mc, De Luca, G, de Pascalis, D, De Robertis, F, De Stefano, N, Di Battista, G, Di Napoli, M, Falcini, M, Fausto, F, Ferrò, Mt, Florio, C, Fortunato, M, Frittelli, C, Galgani, S, Gallo, P, Gatto, M, Gazzola, P, Geda, C, Giordano, A, Granella, F, Grasso, Mg, Grimaldi, Lme, Imperiale, D, Lo Russo, L, Logullo, Fo, Lugaresi, A, Lus, G, Maccarrone, G, Maimone, D, Malagù, S, Marconi, R, Maritato, P, Massacesi, L, Mazzoni, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Neri, W, Orefice, G, Parodi, S, Pasquali, L, Passarella, B, Patti, F, Peresson, M, Perla, F, Pesci, I, Piantadosi, C, Piras, Ml, Pizio, Nr, Pozzilli, C, Protti, A, Pugliatti, M, Quatrale, R, Ragno, M, Rezzonico, M, Ribizzi, G, Riva, M, Ronzoni, M, Rosso, Mg, Rottoli, M, Rovaris, M, Salemi, G, Salvetti, M, Santangelo, M, Santangelo, G, Santuccio, G, Sarchielli, P, Scarpini, E, Sechi, Gp, Severi, S, Sinisi, L, Sola, P, Spitaleri, D, Tassinari, T, Tedeschi, G, Tonietti, S, Torri Clerici, V, Totaro, R, Traccis, S, Trojano, M, Turla, M, Uccelli, A, Ulivelli, M, Valentino, P, Valeriani, M, Venturi, S, Vianello, M, Zaffaroni, M., Amato, M, Ghezzi, A, Lepore, V, Marrosu, M, Mosconi, P, Ponzio, M, Zaratin, P, Battaglia, M, Bossio, R, Brioschi, A, Caniatti, L, Celani, M, Coniglio, M, D’Andrea, F, Danni, M, Ferrò, M, Grasso, M, Grimaldi, L, Logullo, F, Piras, M, Pizio, N, Rosso, M, Sechi, G, and Zaffaroni, M

Subjects
Register (sociolinguistics), Adult, Male, Knowledge management, Databases, Factual, Epidemiology, media_common.quotation_subject, Disease epidemiology, Multiple sclerosis, Quality of care, Register, Longitudinal Studie, Dermatology, NO, Cohort Studies, Databases, 03 medical and health sciences, 0302 clinical medicine, Multiple Sclerosi, Humans, Quality (business), Longitudinal Studies, 030212 general & internal medicine, Registries, Epidemiology, Multiple sclerosis, Quality of care, Register, Adult, Cohort Studies, Data Collection, Databases, Factual, Female, Humans, Italy, Longitudinal Studies, Male, Multiple Sclerosis, Registries, Factual, media_common, Data collection, business.industry, Data Collection, Correction, Female, Italy, Multiple Sclerosis, General Medicine, Register data, Psychiatry and Mental Health, Observational study, Original Article, Settore MED/26 - Neurologia, Business, Neurology (clinical), Cohort Studie, 030217 neurology & neurosurgery, 2708, Human
Abstract

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups. The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups.

Published
2019

3. Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool

Author

Olivieri, I., M Bova, S., Fazzi, E., Ricci, Daniela, Tinelli, F., Montomoli, C., Rezzani, C., Balottin, U., Orcesi, S., Ariaudo, G., Capone, L., Spairani, S., Stronati, M., Figar, T., Mastrangelo, Marica, Krachmalnicoff, A., Lista, G., Accorsi, P., Martelli, P., Rossi, A., Micheletti, S., Zaccagnino, M., Chirico, G., Mallardi, M., Quintiliani, Michela, Romeo, Domenico Marco, Gallini, Francesca, Battini, Roberta, and Comparini, A.

Subjects
Self-assessment, Male, Self-Assessment, Psychometrics, Neurology (clinical), Pediatrics, Perinatology and Child Health, Developmental Neuroscience, Pediatrics, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Cronbach's alpha, 030225 pediatrics, Surveys and Questionnaires, Humans, Infant, Very Low Birth Weight, Medical history, Patient Reported Outcome Measures, Child, Measure (data warehouse), Alpha Value, Very Low Birth Weight, Infant, Reproducibility of Results, Perinatology and Child Health, Focus group, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Quality of Life, Female, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract

Aim This study was conducted to develop and validate a new self-report questionnaire for measuring quality of life (QoL), at school age, in children with a very low birthweight (VLBW). Method Through a focus group approach, children were involved directly in defining the questionnaire items, which were presented as illustrations rather than written questions. This preliminary validation of the questionnaire was conducted in 152 participants with VLBW (aged 7–11y) randomly selected from the five participating Italian centres. The questionnaire was completed by children and parents separately; data on children's demographic and medical history, and intellectual, adaptive, and behavioural functioning were collected using standardized scales. All the children also completed the Paediatric Quality of Life Inventory (PedsQL), another Italian-language measure of QoL in children. Results Our questionnaire was readily accepted and understood, and quick to complete. The Cronbach's alpha value showed it to be a reliable instrument. The child-compiled version correlated well with the PedsQL, whereas no correlations emerged with the other scales used, IQ, or degree of impairment. Conversely, these variables correlated significantly with the parent-compiled version. Children's and parents’ answers were divergent on practically all the items. Interpretation The results confirm the validity of the new instrument and highlight a poor overlap between parents’ and children's perspectives.

Published
2016

4. The SHOX region and its mutations

Author

Capone, L., Lorenzo Iughetti, Sabatini, S., Bacciaglia, A., and Forabosco, A.

Subjects
Homeodomain Proteins, Male, Chromosomes, Human, X, Chromosomes, Human, Y, Short Stature Homeobox Protein, Mutation, Humans, Female, Osteochondrodysplasias, Growth Disorders
Abstract

The short stature homeobox-containing (SHOX) gene lies in the pseudoautosomal region 1 (PAR1) that comprises 2.6 Mb of the short-arm tips of both the X and Y chromosomes. It is known that its heterozygous mutations cause Leri-Weill dyschondrosteosis (LWD) (OMIM #127300), while its homozygous mutations cause a severe form of dwarfism known as Langer mesomelic dysplasia (LMD) (OMIM #249700). The analysis of 238 LWD patients between 1998 and 2007 by multiple authors shows a prevalence of deletions (46.4%) compared to point mutations (21.2%). On the whole, deletions and point mutations account for about 67% of LWD patients. SHOX is located within a 1000 kb desert region without genes. The comparative genomic analysis of this region between genomes of different vertebrates has led to the identification of evolutionarily conserved non-coding DNA elements (CNE). Further functional studies have shown that one of these CNE downstream of the SHOX gene is necessary for the expression of SHOX; this is considered to be typical "enhancer" activity. Including the enhancer, the overall mutation of the SHOX region in LWD patients does not hold in 100% of cases. Various authors have demonstrated the existence of other CNE both downstream and upstream of SHOX regions. The resulting conclusion is that it is necessary to reanalyze all LWD/LMD patients without SHOX mutations for the presence of mutations in the 5'- and 3'-flanking SHOX regions.

Published
2010

5. Pitfalls in using the ring finger test alone for the diagnosis of carpal tunnel syndrome

Author

Capone L, Schönhuber R, Pentore R, and Lunazzi C

Subjects
Male, medicine.medical_specialty, Neurology, Neural Conduction, Dermatology, Electromyography, Wrist, Fingers, Medicine, Humans, Carpal tunnel syndrome, Pathological, Neuroradiology, Neurologic Examination, medicine.diagnostic_test, business.industry, General Neuroscience, General Medicine, Middle Aged, medicine.disease, Carpal Tunnel Syndrome, Median nerve, Electric Stimulation, Surgery, body regions, Psychiatry and Mental health, medicine.anatomical_structure, Anesthesia, Female, Neurology (clinical), Neurosurgery, business
Abstract

Latency differences (>0.5 ms) of median and ulnar sensory action potentials (mSAP and uSAP) at the wrist evoked by ring finger stimulation are considered a sensitive and specific test for diagnosis of carpal tunnel syndrome (CTS). In this study, we aimed to assess the practical usefulness of the ring finger test (RFT) in routine electromyography (EMG) examinations. We investigated 2 series of patients: in the first prospective series we considered 300 hands affected by only mild CTS; in the second series we examined retrospectively the EMG charts of 961 hands affected only by CTS but not selected for severity or duration of symptoms. In the first series we found pathological RFT scores in 87% of cases, and pathological RFT or mSAP latency results in 92%. In the second series, pathological RFT scores were found only in 55% of cases, while in 20% where mSAP failed, a volume conducted uSAP had been erroneously interpreted as arising from the median nerve. RFT sensitivity tested in routine EMG examinations of unselected hands affected by CTS drops considerably. Fingers innervated by one only nerve, such as the index and the little fingers, must also be investigated to increase the diagnostic value of RFT.

Published
2000

6. Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy

Author

Maria E. Street, Maria Cristina Maggio, Piero Pirazzoli, Roberto Gastaldi, Silvia Vannelli, Giorgio Radetti, Lorenzo Iughetti, Barbara Stasiowska, Lucia Capone, Laura Mazzanti, Barbara Predieri, Silvano Bertelloni, Iughetti, L, Vannelli, S, Street, Me, Pirazzoli, P, Bertelloni, S, Radetti, G, Capone, L, Stasiowska, B, Mazzanti, L, Gastaldi, R, Maggio, Mc, Predieri, B., Iughetti, L., Vannelli, S., Street, M.E., Pirazzoli, P., Bertelloni, S., Radetti, G., Capone, L., Stasiowska, B., Mazzanti, L., Gastaldi, R., and Maggio, M.C.

Subjects
Male, Langer-Giedion Syndrome, Endocrinology, Diabetes and Metabolism, SHOX deficiency, Pseudoautosomal region, Madelung deformity, Ler Weill syndrome, law.invention, Endocrinology, Settore MED/38 - Pediatria Generale E Specialistica, Short Stature Homeobox Protein, GH treatment, law, SHOX Deficiency, Child, Growth Disorders, Human Growth Hormone, Growth hormone secretion, Recombinant Proteins, GH, Recombinant Human GH, Child, Preschool, Recombinant DNA, Female, medicine.symptom, medicine.medical_specialty, Adolescent, Nose, Osteochondrodysplasias, Short stature, Fingers, Internal medicine, medicine, Humans, Léri–Weill dyschondrosteosis, Gene, Leri-Weill dyschondrosteosi, Homeodomain Proteins, business.industry, medicine.disease, Body Height, Growth Hormone, Pediatrics, Perinatology and Child Health, business, Hair Diseases, SHOX
Abstract

Background/Aims: Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. Patients and Design: We studied 16 patients (10 females; 9.7 ± 2.9 years old; height –2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent auxological evaluations, biochemical investigations, and were treated with rhGH (0.273 ± 0.053 mg/kg/week). Results: Impaired GH secretion was present in 37.5% of the studied subjects. Comparing baseline data with those at the last visit, we found that rhGH treatment improved growth velocity SDS (from –1.03 ± 1.44 to 2.77 ± 1.95; p = 0.001), height SDS (from –2.41 ± 0.71 to –1.81 ± 0.87; p < 0.001), and IGF-1 values (from –0.57 ± 1.23 to 0.63 ± 1.63 SDS, p = 0.010) without affecting body mass index SDS. Height SDS measured at the last visit was significantly correlated with chronological age (r = –0.618, p = 0.032), bone age (r = –0.582, p = 0.047) and height SDS (r = 0.938, p < 0.001) at the beginning of treatment. No adverse events were reported on rhGH therapy which was never discontinued. Conclusion: These data showed that impaired GH secretion is not uncommon in SHOX deficiency subjects, and that rhGH therapy may be effective in increasing height in most of these patients independent of their GH secretory status, without causing any adverse events of concern.

Published
2012

7. Ocular Features and Associated Systemic Findings in SARS-CoV-2 Infection

Author

Michele Cavalleri, Marco Battista, Luigi Capone, Alessio Grazioli Moretti, Vincenzo Starace, Francesca Gorgoni, Eleonora Corbelli, Francesco Bandello, Maria Brambati, Francesco Nadin, Domenico Grosso, Carlo Di Biase, Matteo Pederzolli, Cavalleri, M., Brambati, M., Starace, V., Capone, L., Nadin, F., Pederzolli, M., Gorgoni, F., Di Biase, C., Corbelli, E., Battista, M., Grazioli Moretti, A., Grosso, D., and Bandello, F.

Subjects
Male, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pneumonia, Viral, RT-PCR, Betacoronavirus, Conjunctivitis, Viral, 03 medical and health sciences, 0302 clinical medicine, Pandemic, conjunctivitis, Humans, Immunology and Allergy, Medicine, Pandemics, 030203 arthritis & rheumatology, SARS-CoV-2, business.industry, COVID-19, Middle Aged, Virology, Respiratory support, Ophthalmology, Cross-Sectional Studies, 030221 ophthalmology & optometry, RNA, Viral, Female, Coronavirus Infections, business, Conjunctiva
Abstract

Purposes: To describe the prevalence of ocular features among COVID-19 patients and their relationship with clinical data, inflammatory markers and respiratory support therapy (including CPAP); to investigate SARS-CoV-2 in ocular secretions of symptomatic patients. Methods: 172 COVID-19 patients were evaluated for presence of ocular manifestations. Clinical and laboratory data were also reviewed. Conjunctival swabs were analyzed for SARS-CoV-2 by RT-PCR. Results: Forty-five patients (26.2%) reported ocular manifestations. Patients treated with CPAP were more likely to have ocular abnormalities (p

Published
2020

8. Persistent or Recurrent Diabetic Macular Edema After Fluocinolone Acetonide 0.19 mg Implant: Risk Factors and Management

Author

Alessandro Rabiolo, Piero Zollet, Maria Vittoria Cicinelli, Luigi Capone, Rosangela Lattanzio, Francesco Bandello, Cicinelli, M. V., Rabiolo, A., Zollet, P., Capone, L., Lattanzio, R., and Bandello, F.

Subjects
Male, Vascular Endothelial Growth Factor A, medicine.medical_specialty, Visual acuity, genetic structures, Diabetic macular edema, Visual Acuity, Angiogenesis Inhibitors, Macular Edema, 03 medical and health sciences, 0302 clinical medicine, Fluocinolone acetonide, Pro re nata, Recurrence, Risk Factors, Ophthalmology, medicine, Humans, Medical history, Prospective Studies, Prospective cohort study, Glucocorticoids, 030304 developmental biology, Aged, Aged, 80 and over, Drug Implants, 0303 health sciences, Diabetic Retinopathy, business.industry, Middle Aged, eye diseases, Fluocinolone Acetonide, Baseline characteristics, 030221 ophthalmology & optometry, Female, Implant, medicine.symptom, business, medicine.drug
Abstract

Purpose: To investigate baseline characteristics of patients undergoing additional antivascular endothelial growth factor (VEGF) injections for residual or recurrent diabetic macular edema (DME) in the first year after 0.19-mg fluocinolone acetonide (FAc) implant. Design: Prospective cohort study. Methods: Ninety-four eyes of 66 patients received an FAc implant. Eyes with persistent or recurrent DME were managed with pro re nata anti-VEGF agents. Demographic data and medical history were collected at baseline. Best-corrected visual acuity and central macular thickness were measured every 2 months. The 3 outcomes explored were 1) the risk factors for administration of additional anti-VEGF agents, 2) the interval from FAc to first anti-VEGF injection; and 3) the number of anti-VEGF doses required to maintain regression of DME. Results: Eighteen eyes (19.1%) of 13 patients received 1.3 ± 0.6 anti-VEGF injections. These eyes had significantly thicker central macular thickness at baseline and over the entire follow-up period (P < .001); best-corrected visual acuity was similar at every time point to eyes that were not receiving extra DME treatments. Eyes without preexistent panretinal photocoagulation (PRP) had a higher risk to undergo supplemental treatments (hazard ratio 1.5 [95% confidence interval 1.1-2.5, P = .03). The interval between FAc implant and the first anti-VEGF had a significant linear positive relationship with the number of dexamethasone implants before FAc implant (P = .002, R2 = 0.47). No association was found between baseline factors and the number of injections given. Conclusion: Anti-VEGF agents are efficient treatment to maintain visual acuity in residual/recurrent DME after FAc. Patients with higher baseline central macular thickness and with no previous central macular thickness are more likely to require additional treatments to control DME.

Published
2020

9. HYPERREFLECTIVE FOVEAL SPOTS IN PATIENTS WITH VITREORETINAL ANOMALIES: A Qualitative and Quantitative Analysis

Author

Lorenzo Iuliano, Alessandro Marchese, Luigi Capone, Alessandro Arrigo, Luisa Pierro, Francesco Bandello, Emanuela Aragona, Pierro, L., Arrigo, A., Capone, L., Aragona, E., Marchese, A., Iuliano, L., and Bandello, F.

Subjects
Male, 0301 basic medicine, Fovea Centralis, medicine.medical_specialty, Visual acuity, genetic structures, Fundus Oculi, Visual Acuity, optical coherence tomography angiography, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Retinal Diseases, Optical coherence tomography, Foveal, Ophthalmology, Humans, Medicine, In patient, Prospective Studies, Fluorescein Angiography, Prospective cohort study, optical coherence tomography, medicine.diagnostic_test, business.industry, Retinal, General Medicine, Middle Aged, medicine.disease, Control subjects, eye diseases, Capillaries, hyperreflective foveal spots, Cross-Sectional Studies, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, Female, vitreomacular interface abnormalities, sense organs, medicine.symptom, Epiretinal membrane, business, Tomography, Optical Coherence
Abstract

PURPOSE: To describe structural optical coherence tomography (OCT) and OCT angiography features in patients who have developed hyperreflective foveal spots with or without vitreomacular interface abnormalities or with vitreous adhesion alone. METHODS: The study design was observational and cross sectional. The presence of defined epiretinal membrane was considered an exclusion criterion. All patients underwent complete ophthalmologic examination, with structural OCT and OCT angiography acquisitions. Both qualitative and quantitative analyses of OCT angiography reconstructions were performed for superficial capillary plexus, deep capillary plexus, and choriocapillaris. RESULTS: Thirty patients (20 men; mean age, 55.2 years) showing hyperreflective foveal spots on structural OCT and 30 healthy control subjects (20 men; mean age, 54.7 years) were enrolled. Best-corrected visual acuity was 0.0 ± 0.0 logarithm of the minimum angle of resolution (20/20 Snellen) for both patients and control subjects. Following global and parafoveal/extrafoveal analyses, both superficial capillary plexus and deep capillary plexus showed significant reduction (P < 0.001). Significant superficial capillary plexus and deep capillary plexus changes were also detected in contralateral eyes (P < 0.001). CONCLUSION: Hyperreflective foveal spots might be seen as the initial effect of traction forces causing Müller cell and external retinal layer disruption, leading to the onset of vitreomacular disease. These changes also have an effect on the retinal vascular network. Further larger prospective studies are necessary to confirm our findings.

Published
2020

10. Quantitative changes in the ageing choriocapillaris as measured by swept source optical coherence tomography angiography

Author

Riccardo Sacconi, Enrico Borrelli, Francesco Gelormini, Alessandro Rabiolo, Lea Querques, Giuseppe Querques, Adriano Carnevali, Marco Casaluci, Luigi Capone, Francesco Bandello, Eleonora Corbelli, Sacconi, R., Borrelli, E., Corbelli, E., Capone, L., Rabiolo, A., Carnevali, A., Casaluci, M., Gelormini, F., Querques, L., Bandello, F., and Querques, G.

Subjects
Adult, Male, medicine.medical_specialty, Aging, Fovea Centralis, choriocapillari, healthy subject, optical coherence tomography angiography, vessel diameter index, perfusion density, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Foveal, vessel density, Ophthalmology, medicine, Humans, Fluorescein Angiography, vessel length density, Aged, Aged, 80 and over, aging, choriocapillaris, healthy subjects, business.industry, Choroid, Length density, Healthy subjects, Outcome measures, Retinal Vessels, Optical coherence tomography angiography, Middle Aged, Sensory Systems, Vessel diameter, Cross-Sectional Studies, Ageing, 030221 ophthalmology & optometry, Female, business, Perfusion, 030217 neurology & neurosurgery, Tomography, Optical Coherence
Abstract

AimTo analyse quantitative optical coherence tomography angiography (OCTA) parameters of choriocapillaris (CC) at the foveal, perifoveal and parafoveal regions in healthy subjects of different age.MethodsIn this observational cross-sectional study, consecutive healthy subjects underwent swept source OCTA (PLEX Elite 9000, Carl Zeiss Meditec, USA). 3×3 mm and 6×6 mm scans centred on the fovea were acquired analysed and postprocessed with thresholding and binarisation processes. The main outcome measures included CC quantitative OCTA features (perfusion density (PD), vessel length density (VLD) and vessel diameter index (VDI)) at the foveal, perifoveal and parafoveal regions, and their relationship with age.ResultsSeventy-two eyes (72 patients, mean age 47.4±19.2 years, mean axial length 24.0±0.7 mm) were included. The mean PD was statistically lower in the foveal region compared with the parafoveal region in 3×3 mm scans (p=0.009). In subjects aged 70–80, PD of the foveal region was significantly reduced compared with the perifoveal region in 6×6 mm scans (p=0.008). A strong negative correlation was found between PD and ageing in the foveal, parafoveal and perifoveal regions (pConclusionsWe reported in vivo a strong negative correlation between PD and ageing in the CC of healthy subjects. This reduction seems related to a reduced diameter, and not to a reduced number, of capillaries. The age-related changes were higher in the central area compared with the perifoveal area.

Published
2018

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