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1. The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET

Author

Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Andersen, J, Arnaud, L, Avcin, T, Marsal Barril, S, Beretta, L, Bombardieri, S, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Corti, P, Costedoat-Chalumeau, N, Davidsone, Z, Doria, A, Fenech, C, Ferraris, A, Fischer-Betz, R, Fonseca, J, Frank, C, Gaglioti, A, Galetti, I, Guimaraes, V, Hachulla, E, Holmner, M, Houssiau, F, Iaccarino, L, Jacobsen, S, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Milas-Ahic, J, Moinzadeh, P, Montecucco, C, Mouthon, L, Muller-Ladner, U, Nagy, G, Patarata, E, Pileckyte, M, Pruunsild, C, Rednic, S, Romao, V, Schneider, M, Scire, C, Smith, V, Sulli, A, Tamirou, F, Tani, C, Taruscio, D, Taulaigo, A, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P, van Laar, J, Vieira, A, de Vries-Bouwstra, J, Zschocke, J, Cutolo, M, Mosca, M, Talarico R., Aguilera S., Alexander T., Amoura Z., Andersen J., Arnaud L., Avcin T., Marsal Barril S., Beretta L., Bombardieri S., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Cannizzo S., Cavagna L., Chaigne B., Cornet A., Corti P., Costedoat-Chalumeau N., Davidsone Z., Doria A., Fenech C., Ferraris A., Fischer-Betz R., Fonseca J. E., Frank C., Gaglioti A., Galetti I., Guimaraes V., Hachulla E., Holmner M., Houssiau F., Iaccarino L., Jacobsen S., Limper M., Malfait F., Mariette X., Marinello D., Martin T., Matthews L., Matucci-Cerinic M., Meyer A., Milas-Ahic J., Moinzadeh P., Montecucco C., Mouthon L., Muller-Ladner U., Nagy G., Patarata E., Pileckyte M., Pruunsild C., Rednic S., Romao V. C., Schneider M., Scire C. A., Smith V., Sulli A., Tamirou F., Tani C., Taruscio D., Taulaigo A. V., Tincani A., Ticciati S., Turchetti G., van Hagen P. M., van Laar J. M., Vieira A., de Vries-Bouwstra J. K., Zschocke J., Cutolo M., Mosca M., Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Andersen, J, Arnaud, L, Avcin, T, Marsal Barril, S, Beretta, L, Bombardieri, S, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Corti, P, Costedoat-Chalumeau, N, Davidsone, Z, Doria, A, Fenech, C, Ferraris, A, Fischer-Betz, R, Fonseca, J, Frank, C, Gaglioti, A, Galetti, I, Guimaraes, V, Hachulla, E, Holmner, M, Houssiau, F, Iaccarino, L, Jacobsen, S, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Milas-Ahic, J, Moinzadeh, P, Montecucco, C, Mouthon, L, Muller-Ladner, U, Nagy, G, Patarata, E, Pileckyte, M, Pruunsild, C, Rednic, S, Romao, V, Schneider, M, Scire, C, Smith, V, Sulli, A, Tamirou, F, Tani, C, Taruscio, D, Taulaigo, A, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P, van Laar, J, Vieira, A, de Vries-Bouwstra, J, Zschocke, J, Cutolo, M, Mosca, M, Talarico R., Aguilera S., Alexander T., Amoura Z., Andersen J., Arnaud L., Avcin T., Marsal Barril S., Beretta L., Bombardieri S., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Cannizzo S., Cavagna L., Chaigne B., Cornet A., Corti P., Costedoat-Chalumeau N., Davidsone Z., Doria A., Fenech C., Ferraris A., Fischer-Betz R., Fonseca J. E., Frank C., Gaglioti A., Galetti I., Guimaraes V., Hachulla E., Holmner M., Houssiau F., Iaccarino L., Jacobsen S., Limper M., Malfait F., Mariette X., Marinello D., Martin T., Matthews L., Matucci-Cerinic M., Meyer A., Milas-Ahic J., Moinzadeh P., Montecucco C., Mouthon L., Muller-Ladner U., Nagy G., Patarata E., Pileckyte M., Pruunsild C., Rednic S., Romao V. C., Schneider M., Scire C. A., Smith V., Sulli A., Tamirou F., Tani C., Taruscio D., Taulaigo A. V., Tincani A., Ticciati S., Turchetti G., van Hagen P. M., van Laar J. M., Vieira A., de Vries-Bouwstra J. K., Zschocke J., Cutolo M., and Mosca M.

Abstract

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.

Published
2022

2. Electronic reporting of rare endocrine conditions within a clinical network:results from the EuRRECa project

Author

Ali, S. R., Bryce, J., Priego-Zurita, A. L., Cherenko, M., Smythe, C., de Rooij, T. M., Cools, M., Danne, T., Katugampola, H., Dekkers, O. M., Hiort, O., Linglart, A., Netchine, I., Nordenstrom, A., Attila, P., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Taruscio, D., Visser, W. E., Pereira, A. M., Appelman-Dijkstra, N. M., Ahmed, S. F., Ali, S. R., Bryce, J., Priego-Zurita, A. L., Cherenko, M., Smythe, C., de Rooij, T. M., Cools, M., Danne, T., Katugampola, H., Dekkers, O. M., Hiort, O., Linglart, A., Netchine, I., Nordenstrom, A., Attila, P., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Taruscio, D., Visser, W. E., Pereira, A. M., Appelman-Dijkstra, N. M., and Ahmed, S. F.

Abstract

Objective: The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb. eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018. Methods: Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021. Results: The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33). Conclusions: e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network. Significance statement Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project sh

Published
2023

4. The Communicative-Relational Operating Model of the Italian National Institute of Health for an Effective Telephone Intervention in Public Health, Structured on Basic Counselling Skills.

Author

Luzi, A. M., Colucci, A., Gallo, P., De Mei, B., Mastrobattista, L., De Santis, M., Pacifici, R., Taruscio, D., and Gallo, C.

Subjects
PUBLIC health, COMMUNICATION, HEALTH promotion, TELEPHONES, SEXUALLY transmitted diseases
Abstract

Introduction. Communication has a crucial role in public health, because it becomes an essential component of prevention; it is also a proactive tool in health promotion. From a planning perspective, it is appropriate to use communication means that can help the bidirectional communication process, such as face-to-face communication and telephone communication. Materials and methods. In relation to this, the Italian National Institute of Health has developed the "Modello Operativo Comunicativo-Relazionale" (the "Communicative-Relational Operating Model"). It is based on the fundamental skills of the counselling, this gives a protocol to the health professionals that is replicable and organized and it allows health professionals to carry out a telephone communication that is efficient with the user through technical-scientific and communication-relational skills. The goal is to answer in a customized way to the various users' health needs. The Operating Model was created by experts of the National AIDS and Sexually Transmitted Infections Helpline of the Operational Unit of Psycho-Socio-Behavioural Research, Communication, Training, of the Infectious Diseases Department. Later, the Operating Model was proposed to the experts of the Helplines in the National Centre on Addictions and Doping and the National Helpline of the National Centre for Rare Diseases in the National Institute of Health that integrated this method into their telephone approach. Results. The Operating Model illustrated above was applied to several helplines of the National Institute of Health as an example of correct scientific information, updated and customized on sexual transmitted infections, addictions and rare diseases. Conclusions. This article aims to illustrate the Operating Model, the theoretical prerequisites that subtend it and its possible application in the different public health structures that use the telephone for a professional relationship with their users. [ABSTRACT FROM AUTHOR]

Published
2023
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6. Primary sclerosing cholangitis: Burden of disease and mortality using data from the national rare diseases registry in Italy

Author

Carbone, M, Kodra, Y, Rocchetti, A, Manno, V, Minelli, G, Gerussi, A, Ronca, V, Malinverno, F, Cristoferi, L, Floreani, A, Invernizzi, P, Conti, S, Taruscio, D, Carbone M., Kodra Y., Rocchetti A., Manno V., Minelli G., Gerussi A., Ronca V., Malinverno F., Cristoferi L., Floreani A., Invernizzi P., Conti S., Taruscio D., Carbone, M, Kodra, Y, Rocchetti, A, Manno, V, Minelli, G, Gerussi, A, Ronca, V, Malinverno, F, Cristoferi, L, Floreani, A, Invernizzi, P, Conti, S, Taruscio, D, Carbone M., Kodra Y., Rocchetti A., Manno V., Minelli G., Gerussi A., Ronca V., Malinverno F., Cristoferi L., Floreani A., Invernizzi P., Conti S., and Taruscio D.

Abstract

Introduction: Studies on the epidemiology of primary sclerosing cholangitis (PSC) are mainly based on tertiary referral centers; and are retrospective case series susceptible to selection bias. The aim of this study was to estimate incidence; survival and cause of mortality of PSC in Italy; using population-based data. Methods: Data collected from the National Rare Diseases Registry (RNMR) and the National Mortality Database (NMD) were integrated and analyzed. Results: We identified 502 PSC incident cases. The crude incidence rate between 2012 and 2014 was 0.10 per 100,000 individuals. Sixty percent were male; mean age at disease onset and at diagnosis were 33 and 37 years; respectively; highlighting a mean diagnostic delay of 4 years. The rate of interregional mobility was 12%. Ten-year survival was 92%. In 32% of cases the cause of death was biliary-related; 12% died of biliary or gallbladder cancer. Conclusions: For rare diseases such as PSC; population-based cohort’s studies are of paramount importance. Incidence rates of PSC in Italy are markedly lower and survival much longer than the ones reported from tertiary; single-centre series. Moreover; the diagnostic delay and the patient interregional mobility highlights the need for increasing awareness on the disease and for resource reallocation among Italian regions within the National Health Service.

Published
2020

10. Editorial

Author

Taruscio, D.

Published
2013

11. The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases:insights after the first 5 years of the ERN ReCONNET

Author

Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., Mosca, Marta, Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., and Mosca, Marta

Abstract

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.

Published
2022

13. [Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020]

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Angiolillo, A., Badolato, R., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamin, I., Caloiero, M., Cannata, L., Carnicella, A., Castellani, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., De Venuto, D., Di Sabatino, M, Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Giordano, P., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Pradal, U., Raia, V., Redemagni, A., Ripani, P., Ros, M., Rotolo, N., Rottigni, S., Salvatore, M., Scarlata, A., Serio, L., Spaggiari, C., Taccetti, G., Taruscio, D., and Vitullo, P

Subjects
Adult, Male, CF referral centre, Adolescent, Cystic Fibrosis, [delta]F508, COVID-19, FEV, registry, BMI, Young Adult, CF support centre, Italy, cystic fibrosis, Child, Child, Preschool, Female, Humans, Pandemics, Registries, Preschool
Published
2022

15. Covid-19 and pregnancy, childbirth, and breastfeeding: The interim guidance of the italian national institute of health

Author

Giusti, A, Zambri, F, Marchetti, F, Corsi, E, Preziosi, J, Sampaolo, L, Pizzi, E, Taruscio, D, Salerno, P, Chiantera, A, Colacurci, N, Davanzo, R, Mosca, F, Petrini, F, Ramenghi, L, Vicario, M, Villani, A, Viora, E, Zanetto, F, Chapin, E, Donati, S, Giusti, A., Zambri, F., Marchetti, F., Corsi, E., Preziosi, J., Sampaolo, L., Pizzi, E., Taruscio, D., Salerno, P., Chiantera, A., Colacurci, N., Davanzo, R., Mosca, F., Petrini, F., Ramenghi, L., Vicario, M., Villani, A., Viora, E., Zanetto, F., Chapin, E. M., and Donati, S.

Subjects
Breast Feeding, Italy, Pregnancy, Practice Guidelines as Topic, Parturition, Infant, COVID-19, Female, Pregnancy Complications, Infectious, Settore MED/38, Infectious Disease Transmission, Vertical, Human
Abstract

This summary is based on the 2nd edition of the "Interim guidance on pregnancy, childbirth, breastfeeding and care of infants (0-2 years) in response to the COVID-19 emergency. Update of the INIH COVID-19 Report n. 45/2020", published on 5 February 2021.1

Published
2021

17. Novel insights in primary biliary cholangitis (PBC) epidemiology using administrative records

Author

Gerussi, A, Manno, V, Carbone, M, Minelli, G, Taruscio, D, Conti, S, Invernizzi, P, Gerussi, A., Manno, V., Carbone, M., Minelli, G., Taruscio, D., Conti, S., Invernizzi, P., Gerussi, A, Manno, V, Carbone, M, Minelli, G, Taruscio, D, Conti, S, Invernizzi, P, Gerussi, A., Manno, V., Carbone, M., Minelli, G., Taruscio, D., Conti, S., and Invernizzi, P.

Published
2019

18. Italian cystic fibrosis registry (ICFR): Report 2017-2018

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Fornaro, G. P., Taruscio, D., Salvatore, M., Angiolillo, A., Baldo, E., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Caloiero, M., Cannata, L., Carnicella, A., Cellini, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., Sabatino, M. D., Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Minicucci, L., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Quattromano, E., Raia, V., Redemagni, A., Ros, M., Rotolo, N., Rottigni, S., Scarlata, A., Spaggiari, C., Taccetti, G., Vassanelli, C., and Vitullo, P.

Subjects
Adult, Male, CF referral centre, Registry, Adolescent, Cystic Fibrosis, [delta]F508, Cystic Fibrosis Transmembrane Conductance Regulator, FEV, BMI, Young Adult, CF support centre, Italy, Cystic fibrosis, Child, Female, Humans, Registries, Lung Transplantation
Published
2021

19. The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

Author

Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, Mosca, M, Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, and Mosca, M

Abstract

During the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy. The vulnerability of patients with rCTDs needs to be taken into account when planning future health policies, in preparation for not only the post-COVID era, but also any possible new health emergencies.

Published
2021

20. Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016

Author

Giordani, B., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Minicucci, L., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Taruscio, D., Salvatore, M., Albera, C, Amato, A, Angiolillo, A, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cipolli, M, Cirilli, N, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Fabrizi, B, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Maschio, M, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, Vassanelli, C, Vitullo, P, and Zavataro L, .

Published
2019

22. Narcolepsy is a paediatric disease: Use red flags to recognise it

Author

Antelmi, E., Vignatelli, L., Ceretelli, I., Bellini, M., Carta, C., Cortelli, P., Guerrini, R., Ingravallo, F., Marchiani, V., Mari, F., Pieroni, G., Pizza, F., Verga, C., Verillo, E., Strambi, L. F., Ferri, R., Taruscio, D., and Plazzi, G.

Subjects
Diagnostic delay, Red Flags, Diagnosis, Narcolepsy symptoms
Published
2020

23. Prevalence and clinical correlates of dementia among COVID-19-related deaths in Italy

Author

Canevelli, M., Palmieri, L., Raparelli, V., Lo Noce, C., Colaizzo, E., Tiple, D., Vaianella, L., Vanacore, N., Brusaferro, S., Onder, G., Bertinato, L., Brambilla, G., Calcagnini, G., Censi, F., Donfrancesco, C., Facchiano, F., Floridia, M., Giuliano, M., Grisetti, T., Kodra, Y., Langer, M., Lega, I., Albedi, F. M., Manno, V., Mattei, E., Meli, P., Minelli, G., Nebuloni, M., Nistico, L., Nonis, M., Palmisano, L., Petrosillo, N., Pricci, F., Punzo, O., Salerno, P., Debella, M. T., Taruscio, D., Unim, B., Vichi, M., Villani, E. R., and Zona, A.

Subjects
medicine.medical_specialty, Pediatrics, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Clinical Neurology, Short Report, lcsh:Geriatrics, lcsh:RC346-429, SARS‐CoV‐2, NO, 03 medical and health sciences, 0302 clinical medicine, COVID‐19, Intensive care, Medicine, Dementia, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Diagnostic Assessment & Prognosis, 0303 health sciences, business.industry, SARS-CoV-2, Public health, COVID-19, dementia, public health, Cognition, medicine.disease, lcsh:RC952-954.6, Psychiatry and Mental health, Concomitant, Population study, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Introduction We aimed at exploring the proportion of patients dying with COVID‐19 and concomitant dementia in Italy, as well as their clinical characteristics and trajectories of care. Methods The proportion of COVID‐19‐related deaths occurring in people with dementia and the clinical characteristics of deceased individuals according to their dementia status were explored by considering the medical charts of a representative sample of patients deceased in Italian hospitals (n = 2621). Results A total of 415 individuals with dementia were identified in the study population, accounting for 15.8% of overall COVID‐19‐related deaths. Patients with dementia less frequently presented with cough, had lower chance of receiving supportive therapies and intensive care approaches, and showed a faster clinical worsening as compared with individuals with intact cognition. Discussion Dementia confers a relevant risk of adverse outcomes in case of SARS‐CoV‐2 infection and influences the clinical presentation, course and management of affected individuals.

Published
2020

24. Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort

Author

Ciaramitaro, P., Garbossa, D., Peretta, P., Piatelli, G., Massimi, L., Valentini, L., Migliaretti, G., Baldovino, S., Roccatello, D., Kodra, Y., Taruscio, D (on behalf of the Interregional Chiari and Syringomyelia Consortium), Pira, Enrico, Rainero, Innocenzo, and Canale, Andrea

Subjects
Adult, Male, Adolescent, rare disease, Young Adult, Rare Diseases, Pregnancy, Prevalence, Humans, Registries, Chiari Malformation, Child, rare disease, epidemiology, Syringomyelia, Chiari Malformation, recommendations, Encephalocele, Incidence, Forms as Topic, Middle Aged, Decompression, Surgical, Magnetic Resonance Imaging, Syringomyelia, Arnold-Chiari Malformation, Pregnancy Complications, Phenotype, Italy, Child, Preschool, Asymptomatic Diseases, Practice Guidelines as Topic, recommendations, Disease Progression, Female, epidemiology
Abstract

Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments.We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms.An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d'Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d'Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence.436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic forms). Finally, symptoms and signs, familiar and natural history were analyzed.First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.

Published
2020

25. The eurreca project as a model for data access and governance policies for rare disease registries that collect clinical outcomes

Author

Ali, S.R., Bryce, J. (Jillian), Tan, L.E., Hiort, O. (Olaf), Pereira, A.M. (A.), Akker, E.L.T. (Erica) van den, Appelman-Dijkstra, N.M. (Natasha), Bertherat, J. (Jerome), Cools, M.B.C.M. (Martine), Dekkers, O.M. (Olaf), Kodra, Y., Persani, L. (Luca), Smyth, A.R., Smythe, C., Taruscio, D., Ahmed, S. (Shahana), Ali, S.R., Bryce, J. (Jillian), Tan, L.E., Hiort, O. (Olaf), Pereira, A.M. (A.), Akker, E.L.T. (Erica) van den, Appelman-Dijkstra, N.M. (Natasha), Bertherat, J. (Jerome), Cools, M.B.C.M. (Martine), Dekkers, O.M. (Olaf), Kodra, Y., Persani, L. (Luca), Smyth, A.R., Smythe, C., Taruscio, D., and Ahmed, S. (Shahana)

Published
2020
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26. The Undiagnosed Diseases Network International: Five Years and More!

Author

Taruscio, D., Baynam, G., Cederroth, H., Groft, S.C., Klee, E.W., Kosaki, K., Lasko, P.F., Melegh, B., Riess, O., Salvatore, M., Gahl, W.A., Taruscio, D., Baynam, G., Cederroth, H., Groft, S.C., Klee, E.W., Kosaki, K., Lasko, P.F., Melegh, B., Riess, O., Salvatore, M., and Gahl, W.A.

Abstract

Contains fulltext : 220722.pdf (Publisher’s version ) (Closed access)

Published
2020

27. The eurreca project as a model for data access and governance policies for rare disease registries that collect clinical outcomes

Author

Ali, SR, Bryce, J, Tan, LE, Hiort, O, Pereira, AM, Akker, Erica, Appelman-Dijkstra, NM, Bertherat, J, Cools, M (Martine), Dekkers, OM, Kodra, Y, Persani, L, Smyth, A, Smythe, C, Taruscio, D, Ahmed, S Faisal, Ali, SR, Bryce, J, Tan, LE, Hiort, O, Pereira, AM, Akker, Erica, Appelman-Dijkstra, NM, Bertherat, J, Cools, M (Martine), Dekkers, OM, Kodra, Y, Persani, L, Smyth, A, Smythe, C, Taruscio, D, and Ahmed, S Faisal

Published
2020

33. The current landscape of European registries for rare endocrine conditions

Author

Ali, S.R., Bryce, J. (Jillian), Cools, M.B.C.M. (Martine), Korbonits, M, Beun, J.G., Taruscio, D., Danne, T., Dattani, M.T. (Mehul), Dekkers, O.M. (Olaf), Linglart, A, Netchine, I, Nordenström, A. (Anna), Patocs, A., Persani, L. (Luca), Reisch, N. (Nicole), Smythe, A., Sumnik, Z. (Zdenek), Visser, W.E. (Edward), Hiort, O. (Olaf), Pereira, A.M. (A.), Ahmed, S.F. (Sayed), Endo, E.R.N., Ali, S.R., Bryce, J. (Jillian), Cools, M.B.C.M. (Martine), Korbonits, M, Beun, J.G., Taruscio, D., Danne, T., Dattani, M.T. (Mehul), Dekkers, O.M. (Olaf), Linglart, A, Netchine, I, Nordenström, A. (Anna), Patocs, A., Persani, L. (Luca), Reisch, N. (Nicole), Smythe, A., Sumnik, Z. (Zdenek), Visser, W.E. (Edward), Hiort, O. (Olaf), Pereira, A.M. (A.), Ahmed, S.F. (Sayed), and Endo, E.R.N.

Abstract

Objective: To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods: Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results: Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was h

Published
2019
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34. A National Hospital‐Based Study of Hospitalized Patients With Primary Biliary Cholangitis

Author

Manno, V, Gerussi, A, Carbone, M, Minelli, G, Taruscio, D, Conti, S, Invernizzi, P, Manno, V, Gerussi, A, Carbone, M, Minelli, G, Taruscio, D, Conti, S, and Invernizzi, P

Abstract

Epidemiological studies on primary biliary cholangitis (PBC) have been based primarily on tertiary referral case series. We aimed to estimate the incidence and prevalence and describe comorbidities in hospitalized patients with PBC in Italy using a national hospital‐based data source. Data were extracted from the National Hospital Discharge Database, which includes all Italian individuals discharged from any hospital in the country. All adults diagnosed with biliary cirrhosis (International Classification of Diseases, Ninth Revision, Clinical Modification, 571.6) as the primary or secondary diagnosis from 2011 to 2015 were included. To determine whether a comorbidity was either more or less frequent in PBC patients compared with the general hospitalized Italian population, the standardized hospitalization ratio (SHR) was calculated. A total of 5,533 incident cases were identified from 2011 to 2015, 3,790 of whom were females (68.5%; female to male [F:M] ratio, 2.2:1). Prevalent cases were 9,664, of whom 7,209 were females (74.6%; F:M ratio, 2.9:1). The incident rate was 1.03 × 100,000 in males and 1.92 × 100,000 in females; prevalence was 1.89 × 100,000 in males and 4.75 × 100,000 in females. Extrahepatic autoimmune diseases, malignant neoplasms of liver and intrahepatic biliary ducts, and malignant neoplasms of gallbladder and extrahepatic bile ducts were found more frequently in PBC patients than in the general hospitalized population (SHR > 100), whereas cerebrovascular diseases and ischemic heart diseases were less frequent in PBC individuals (SHR < 100). Conclusion: This national study provides a survey of comorbidities associated with PBC. Hospitalized patients with PBC are more likely to have extrahepatic autoimmune diseases, hepatocellular carcinoma, and biliary tract cancers and a low risk of cardiovascular events

Published
2019

35. The current landscape of European registries for rare endocrine conditions

Author

Ali, SR, Bryce, J, Cools, M, Korbonits, M, Beun, JG, Taruscio, D, Danne, T, Dattani, M, Dekkers, OM, Linglart, A, Netchine, I, Nordenstrom, A, Patocs, A, Persani, L, Reisch, N, Smythe, A, Sumnik, Z, Visser, Edward, Hiort, O, Pereira, AM, Ahmed, SF, Endo, ERN, Ali, SR, Bryce, J, Cools, M, Korbonits, M, Beun, JG, Taruscio, D, Danne, T, Dattani, M, Dekkers, OM, Linglart, A, Netchine, I, Nordenstrom, A, Patocs, A, Persani, L, Reisch, N, Smythe, A, Sumnik, Z, Visser, Edward, Hiort, O, Pereira, AM, Ahmed, SF, and Endo, ERN

Published
2019

36. FRI-008-Incidence, prevalence and mortality of primary sclerosing cholangitis in Italy: A population-based study

Author

Carbone, M, Kodra, Y, Rocchetti, A, Manno, V, Minelli, G, Gerussi, A, Ronca, V, Malinverno, F, Cristoferi, L, Floreani, A, Invernizzi, P, Conti, S, Taruscio, D, Carbone, Marco, kodra, yllka, rocchetti, adele, manno, valerio, minelli, giada, Gerussi, Alessio, Ronca, Vincenzo, Malinverno, Federica, Cristoferi, Laura, Floreani, Annarosa, Invernizzi, Pietro, conti, susanna, taruscio, domenica, Carbone, M, Kodra, Y, Rocchetti, A, Manno, V, Minelli, G, Gerussi, A, Ronca, V, Malinverno, F, Cristoferi, L, Floreani, A, Invernizzi, P, Conti, S, Taruscio, D, Carbone, Marco, kodra, yllka, rocchetti, adele, manno, valerio, minelli, giada, Gerussi, Alessio, Ronca, Vincenzo, Malinverno, Federica, Cristoferi, Laura, Floreani, Annarosa, Invernizzi, Pietro, conti, susanna, and taruscio, domenica

Published
2019

39. [Italian Cystic Fibrosis Registry. Report 2011-2014]

Author

Giordani, B, Amato, A, Majo, F, Ferrari, G, Quattrucci, S, Minicucci, L, Padoan, R, Floridia, G, Puppo Fornaro, G, Taruscio, D, Salvatore, M, and Gruppo di lavoro, Rifc.

Subjects
Adult, Aged, 80 and over, Male, Time Factors, Adolescent, Cystic Fibrosis, Infant, Middle Aged, Young Adult, Italy, Child, Preschool, Humans, Female, Registries, Child, Aged
Abstract

The Italian Cystic Fibrosis Registry (ICFR) is based on a new agreement about the data flow towards the Registry signed on October, 4th 2016 by the Centre for Rare Diseases of the Italian National Institute of Health (NIH), the clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, the Paediatric Hospital "Bambino Gesù" (Rome), the Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis.The aim of the present Report is to improve the knowledge on cystic fibrosis (CF) through the epidemiological description of Italian patients. The members of the Scientific and Technical Committee have to write a report on data collected by ICFR, in order to contribute to achieve the aims of ICFR itself, i.e., to improve the care of CF patients. In particular, the Report should contribute to the following objectives: - to analyze the medium and long-term clinical and epidemiological trends of the disease; - to identify the main healthcare needs at regional and national level in order to contribute to the healthcare programmes and to the distribution of resources; - to compare Italian data with the international ones.Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral and Support Centres for Cystic Fibrosis in the period 2011-2014. Data were sent by Centres by means of a specific software (Camilla, Ibis Informatica) and has undergone a double quality control (QC): the first by NIH and the second at a European level (before the inclusion of the Italian data within the European Cystic Fibrosis Registry). These QCs assure the completeness and accuracy of data as well as their consistency with European core data.A total of 29 different CF centres (referral, support, and Paediatric Hospital "Bambino Gesù") sent their data to ICFR; data referred to the period 2011-2014. Data regarding Sardinia Region (Southern Italy) are missing; data from Molise (Southern Italy) CF centre refer only to 2014.The present Report has been organized into 10 sections. 1. Demography - number of Italian patients with cystic fibrosis (CF) in 2014 was 4,981 and their median age was 20.4 years; estimated 2014 CF prevalence was 8.2/100,000 residents in Italy; on average, 52.1% of the patients were male and CF distribution showed higher frequency in patients aged from 7 to 35 years. On average, 53.7% of CF patients are aged more than 18 years. 2. Diagnoses - most of the CF patients were diagnosed before two years of age (around 66%); a significant proportion of patients (on average, 12%) was diagnosed in adult age. 3. New diagnoses - new diagnoses were 187 in 2011, 200 in 2012, 160 in 2013, and 135 in 2014. Estimated incidence was 1/4,052 live births in 2011; 1/4,313 in 2012; 1/5,189 in 2013 and 1/8,243 in 2014. 4. Genetics - 99.5% of patients was studied at the molecular level, with identification of 90.1% of Cystic Fibrosis Transmembrane Regulator CFTR mutations; [delta]508F was the most frequent mutation (44.8% in 2014). 5. Lung function - FEV₁ (Forced Expiratory Volume in the first second) scores progressively decreased shortly before the start of adult age, in accordance with the natural history of the disease. Most of the patients between 6 and 17 years of age reported a FEV₁ % ≥ 70% of the predicted value, while the proportion of patients with severe lung disease (FEV₁ %40% of the predicted value) is2% over the period 2011-2014. 6. Nutrition - most critical periods come out during the first 6 months of life and during adolescence. Prevalence of malnourished male aged 12-17 years decreases over the period 2011-2014; an increasing percentage of patient (both male and female) with a suboptimal body mass index value is observed among patients aged more than 18 years 7. Complications - the presence of missing data represents an obstacle in the correct evaluation of prevalence value of complications related to Italian patients within ICFR. Nevertheless, it was estimated that, in 2014, the principal complication in patients aged18 years was hepatopathies (15%), while in patients aged more than 18 years the principal complications were due to hepatopathies (25%) and diabetes (22%). 8. Transplantation - during the period 2011-2014, 135 patients ageed between 7 and 53 years received a double lung transplant; median age at transplantation was 32.5 years. Median duration of waiting list for transplantation is estimated in 11 months. 9. Microbiology - analyses were referred to test performed in 2014. Prevalence of adult patients with Pseudomonas aeruginosa chronic infection is 49.4% compared to 14.5% of paediatric patients; Staphylococcus aureus chronic infection is present in 48% of adult patients and 45.6% of paediatric patients; Burkholderia Cepacia complex is present almost exclusively in adult patients (4.9%); Nontuberculous mycobacteria is present in 0.9% and 0.3% of adult and paediatric patients, respectively; Stenotrophomonas maltophilia infection is present in 4.6% of patients (both adults and paediatric). 10. Mortality - RIFC data show that 176 patients (median age 32 years; 81 males and 95 females) died in the period 2011-2014.The present Report shows that CF population is growing (median age), so paediatric mortality is decreasing. A very low percentage of paediatric population is characterized by complication of pulmonary functions; adult patients are characterized by an increase of age at death (more than 30 years of age). ICFR Report may represent an important tool to analyze clinical and epidemiological trends of the disease as well as to identify the main healthcare needs at regional and national level to contribute to the healthcare programmes and to the distribution of the resources.

Published
2018

40. Italian Cystic Fibrosis Registry. Report 2011-2014

Author

Barbara, Giordani, Annalisa, Amato, Fabio, Majo, Gianluca, Ferrari, Serena, Quattrucci, Laura, Minicucci, Rita, Padoan, Giovanna, Floridia, Gianna Puppo Fornaro, Domenica, Taruscio, Marco, Salvatore, Gruppo di lavoro RIFC, Albera, C, Amato, A, Angiolillo, A, Assael, Bm, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cirilli, N, Collura, M, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, La Rosa, M, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L.

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2018

42. The current landscape of European registries for rare endocrine conditions

Author

Ali, S R, primary, Bryce, J, additional, Cools, M, additional, Korbonits, M, additional, Beun, J G, additional, Taruscio, D, additional, Danne, T, additional, Dattani, M, additional, Dekkers, O M, additional, Linglart, A, additional, Netchine, I, additional, Nordenstrom, A, additional, Patocs, A, additional, Persani, L, additional, Reisch, N, additional, Smyth, A, additional, Sumnik, Z, additional, Visser, W E, additional, Hiort, O, additional, Pereira, A M, additional, Ahmed, S F, additional, and _, _, additional

Published
2019
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44. Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

Author

Vignatelli, L., primary, Antelmi, E., additional, Ceretelli, I., additional, Bellini, M., additional, Carta, C., additional, Cortelli, P., additional, Ferini-Strambi, L., additional, Ferri, R., additional, Guerrini, R., additional, Ingravallo, F., additional, Marchiani, V., additional, Mari, F., additional, Pieroni, G., additional, Pizza, F., additional, Verga, M. C., additional, Verrillo, E., additional, Taruscio, D., additional, and Plazzi, Giuseppe, additional

Published
2018
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45. EU Pancreas: An Integrated European Platform for Pancreas Cancer Research - from Basic Science to Clinical and Public Health Interventions for a Rare Disease

Author

Milne, R., La Vecchia, C., Van Steen, K., Hahn, S., Buchholz, M., Costello, E., Esposito, I., Hoheisel, J. D., Lange, B., Lopez-Bigas, N., Michalski, C. W., Real, F. X., Brand, A., Malats, N., LaVecchia, C., Macic, D., Ceric, T., Iovanna, J., Kleeff, J., Gazouli, M., Dervenis, C., Hegyi, P., Ruhl, R., Shafat, A., Sharp, L., Rayan, A., DeCarli, A., Tortora, G., Sileikis, A., Barauskas, G., Eriksson Steigen, S., Ikdahl, T., Malecka-Panas, E., Silva, F. S., Barbu, T. S., Popescu, I., Durisova, M., Majekova, M., Dolzan, V., Genc, L., Yildirim, H., Crnogorac-Jurcevic, T., Bulchholz, M., Greenhalf, B., Campbell, F., Kloeppel, G., De Mesquita, B. B., Hoheisel, J., Brazma, A., Herwig, R., Van Cutsum, E., Goldstein, D., Birney, E., Bassi, C., Biankin, A., Scarpa, A., Michalski, C., Dufresne, M., Chelala, C., Kocher, H., Steyerberg, E., Cecconi, D., Löhr, M., Gutierrez- Ibarluzea, I., Adany, R., Horgan, D., Taruscio, D., Wolff-Boehnisch, B., Dauben, H. -P., Barbardorttir, R. B., Papadopoulos, I., Callens, P., Holcatova, I., Brenner, H., Campa, D., Canzian, F., Rizzato, C., Lüttges, J., Gress, T., Bartch, D., Vlahou, T., Fillat, C., Bayés, M., Gut, I., Gut, M., Gasull, M., Barberá, V., Porta, M., Molero, X., Duell, E., Ález-Couto, E., Carrato, A., Guillén, C., Martinelli, P., Hidalgo, M., Heeschen, C., Valencia, A., Calle, M. L., Guigó, R., Scelo, G., Boffetta, P., Maisonneuve, P., Bosetti, C., Lucenteforte, E., Jeurnink, S., Van Duijnhoven, F., Zatonski, W., Petronijevic, L., Verbeke, C., Neoptolemos, J., Institute for Public Health Genomics, Health Services Research, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Milne, R., La Vecchia, C., Van Steen, K., Hahn, S., Buchholz, M., Costello, E., Esposito, I., Hoheisel, J.D., Lange, B., Lopez-Bigas, N., Michalski, C.W., Real, F.X., Brand, A., Malats, N., LaVecchia, C., Macic, D., Ceric, T., Iovanna, J., Kleeff, J., Gazouli, M., Dervenis, C., Hegyi, P., Ruhl, R., Shafat, A., Sharp, L., Rayan, A., DeCarli, A., Tortora, G., Sileikis, A., Barauskas, G., Eriksson Steigen, S., Ikdahl, T., Malecka-Panas, E., Silva, F.S., Barbu, T.S., Popescu, I., Durisova, M., Majekova, M., Dolzan, V., Genc, L., Yildirim, H., Crnogorac-Jurcevic, T., Bulchholz, M., Greenhalf, B., Campbell, F., Kloeppel, G., De Mesquita, B.B., Hoheisel, J., Brazma, A., Herwig, R., Van Cutsum, E., Goldstein, D., Birney, E., Bassi, C., Biankin, A., Scarpa, A., Michalski, C., Dufresne, M., Chelala, C., Kocher, H., Steyerberg, E., Cecconi, D., Löhr, M., Gutierrez- Ibarluzea, I., Adany, R., Horgan, D., Taruscio, D., Wolff-Boehnisch, B., Dauben, H.-P., Barbardorttir, R.B., Papadopoulos, I., Callens, P., Holcatova, I., Brenner, H., Campa, D., Canzian, F., Rizzato, C., Lüttges, J., Gress, T., Bartch, D., Vlahou, T., Fillat, C., Bayés, M., Gut, I., Gut, M., Gasull, M., Barberá, V., Porta, M., Molero, X., Duell, E., Ález-Couto, E., Carrato, A., Guillén, C., Martinelli, P., Hidalgo, M., Heeschen, C., Valencia, A., Calle, M.L., Guigó, R., Scelo, G., Boffetta, P., Maisonneuve, P., Bosetti, C., Lucenteforte, E., Jeurnink, S., Van Duijnhoven, F., Zatonski, W., Petronijevic, L., Verbeke, C., and Neoptolemos, J.

Subjects
Biomedical Research, Omics data, International Cooperation, Best practice, Information Dissemination, COST Action BM1204, Context (language use), Translational Research, Biomedical, Rare Diseases, Multidisciplinary approach, Neoplasms, Pancrea, Humans, Medicine, Precision Medicine, Mortality, Pancreas cancer, Genetics (clinical), Public health, Rare disease, Training and mobility, Data integration, Early-stage researchers, Harmonization, Health management system, business.industry, Research, Pancreatic Neoplasm, Public Health, Environmental and Occupational Health, Precision medicine, Research Personnel, ddc, Europe, Pancreatic Neoplasms, Practice Guideline, Action (philosophy), Health, Cancer research, Public Health, Personalized medicine, Therapeutic, business
Abstract

Background: Large-scale international collaboration is essential to decipher relevant information in the context of omics-scale interrogations in cancer research. This is even more important for rare and fatal diseases like pancreas cancer (PC). Methods: The COST Action BM1204 is a unique platform to facilitate the collaboration of a broad range of European and international PC multidisciplinary research groups in order to: (1) integrate knowledge and experience in a multidisciplinary way ‘from cell to society', (2) promote the application of uniform study tools and protocols, (3) foster their optimal use by early-stage researchers, (4) enhance the mobility and training of researchers, and (5) disseminate the results produced to the broader society. Results: This Action will develop novel interdisciplinary tools for collaborative research to improve our understanding of PC and its prevention, diagnosis and treatment. It also aims to answer questions related to the etiology, early detection, evidence-based and personalized treatment, and health management for PC. Furthermore, the Action will contribute to new insights into PC personalized medicine and beyond as well as to the understanding of complex and rare diseases taking PC as a best practice example. The Action aims at attracting young scholars across a range of disciplines in collaboration with more experienced researchers and enhancing active European participation in the international scenario of PC research. Conclusion: The ultimate aim is to foster PC research in Europe and to coordinate this effort with other international initiatives to reduce disease mortality.

Published
2013

46. Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Author

Austin, C., Cutillo, C., Lau, L., Jonker, A., Rath, A., Julkowska, D., Thomson, D., Terry, S., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K., Baynam, Gareth, Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L., Dawkins, Hugh, Austin, C., Cutillo, C., Lau, L., Jonker, A., Rath, A., Julkowska, D., Thomson, D., Terry, S., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K., Baynam, Gareth, Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L., and Dawkins, Hugh

Abstract

Due to the remarkable global surge in activity in rare diseases research over the last six years, including contributions by the International Rare Diseases Research Consortium (IRDiRC), the Consortium's 2020 goals have been largely achieved by 2017. Though these developments are gratifying, enormous challenges remain. With this paradox in mind, IRDiRC set new global rare disease goals for the coming decade with the ultimate aim of improved health for people living with rare diseases worldwide. This article is protected by copyright. All rights reserved.

Published
2018

47. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Author

Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., Dunnen, J.T. den, Dyke, S.O.M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S.C., Gut, I., Hamosh, A., Hieter, P., Hohn, S., Hurles, M.E., Kaufmann, P., Knoppers, B.M., Krischer, J.P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A.A., Rehm, H.L., Robinson, P.N., Sham, P.C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M.R., Zhang, F., Brunner, H., Bamshad, M.J., Lochmuller, H., Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, and MUMC+: DA Klinische Genetica (5)

Subjects
INTELLECTUAL DISABILITY, Databases, Factual, IDENTIFICATION, Genome, Human, DISORDERS, International Cooperation, PLATFORM, DATABASES, Rare Diseases, DISCOVERY, Commentary, Humans, Exome, HUMAN PHENOTYPE ONTOLOGY, NETWORK, MATCHMAKER EXCHANGE, PROJECT
Abstract

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population. publisher: Elsevier articletitle: International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases journaltitle: The American Journal of Human Genetics articlelink: http://dx.doi.org/10.1016/j.ajhg.2017.04.003 content_type: simple-article copyright: © 2017 The Author(s). ispartof: American Journal of Human Genetics vol:100 issue:5 pages:695-705 ispartof: location:United States status: published

Published
2017

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