TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Identifieur interne : 001222 ( PubMed/Curation ); précédent : 001221; suivant : 001223TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Auteurs : John C. Kingswood [Royaume-Uni] ; Guillaume B. D'Augères [France] ; Elena Belousova [Russie] ; José C. Ferreira [Portugal] ; Tom Carter [Royaume-Uni] ; Ramon Castellana [Espagne] ; Vincent Cottin [France] ; Paolo Curatolo [Italie] ; Maria Dahlin [Suède] ; Petrus J. De Vries [Afrique du Sud] ; Martha Feucht [Autriche] ; Carla Fladrowski [Italie] ; Gabriella Gislimberti [Italie] ; Christoph Hertzberg [Allemagne] ; Sergiusz Jozwiak [Pologne] ; John A. Lawson [Australie] ; Alfons Macaya [Espagne] ; Rima Nabbout [France] ; Finbar O'Callaghan [Royaume-Uni] ; Mirjana P. Benedik [Slovénie] ; Jiong Qin [République populaire de Chine] ; Ruben Marques [Italie] ; Valentin Sander [Estonie] ; Matthias Sauter [Allemagne] ; Yukitoshi Takahashi [Japon] ; Renaud Touraine [France] ; Sotiris Youroukos [Grèce] ; Bernard Zonnenberg [Pays-Bas] ; Anna C. Jansen [Belgique]Source :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 2017.
Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.
DOI: 10.1186/s13023-016-0553-5
PubMed: 28057044
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D'Augères</name><affiliation wicri:level="1"><nlm:affiliation>Association Sclérose Tubéreuse de Bourneville, Gradignan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Association Sclérose Tubéreuse de Bourneville, Gradignan</wicri:regionArea></affiliation></author><author><name sortKey="Belousova, Elena" sort="Belousova, Elena" uniqKey="Belousova E" first="Elena" last="Belousova">Elena Belousova</name><affiliation wicri:level="1"><nlm:affiliation>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow</wicri:regionArea></affiliation></author><author><name sortKey="Ferreira, Jose C" sort="Ferreira, Jose C" uniqKey="Ferreira J" first="José C" last="Ferreira">José C. 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De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town</wicri:regionArea></affiliation></author><author><name sortKey="Feucht, Martha" sort="Feucht, Martha" uniqKey="Feucht M" first="Martha" last="Feucht">Martha Feucht</name><affiliation wicri:level="1"><nlm:affiliation>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Fladrowski, Carla" sort="Fladrowski, Carla" uniqKey="Fladrowski C" first="Carla" last="Fladrowski">Carla Fladrowski</name><affiliation wicri:level="1"><nlm:affiliation>Associazione Sclerosi Tuberosa ONLUS, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Associazione Sclerosi Tuberosa ONLUS, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Gislimberti, Gabriella" sort="Gislimberti, Gabriella" uniqKey="Gislimberti G" first="Gabriella" last="Gislimberti">Gabriella Gislimberti</name><affiliation wicri:level="1"><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Novartis Farma S.p.A, Origgio</wicri:regionArea></affiliation></author><author><name sortKey="Hertzberg, Christoph" sort="Hertzberg, Christoph" uniqKey="Hertzberg C" first="Christoph" last="Hertzberg">Christoph Hertzberg</name><affiliation wicri:level="1"><nlm:affiliation>Vivantes-Klinikum Neukölln, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Vivantes-Klinikum Neukölln, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Jozwiak, Sergiusz" sort="Jozwiak, Sergiusz" uniqKey="Jozwiak S" first="Sergiusz" last="Jozwiak">Sergiusz Jozwiak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Child Neurology, Warsaw Medical University, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Lawson, John A" sort="Lawson, John A" uniqKey="Lawson J" first="John A" last="Lawson">John A. Lawson</name><affiliation wicri:level="1"><nlm:affiliation>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Macaya, Alfons" sort="Macaya, Alfons" uniqKey="Macaya A" first="Alfons" last="Macaya">Alfons Macaya</name><affiliation wicri:level="1"><nlm:affiliation>Hospital Universitari Vall d'Hebron, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Universitari Vall d'Hebron, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="1"><nlm:affiliation>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris</wicri:regionArea></affiliation></author><author><name sortKey="O Callaghan, Finbar" sort="O Callaghan, Finbar" uniqKey="O Callaghan F" first="Finbar" last="O'Callaghan">Finbar O'Callaghan</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Benedik, Mirjana P" sort="Benedik, Mirjana P" uniqKey="Benedik M" first="Mirjana P" last="Benedik">Mirjana P. Benedik</name><affiliation wicri:level="1"><nlm:affiliation>SPS Pediatrična Klinika, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>SPS Pediatrična Klinika, Ljubljana</wicri:regionArea></affiliation></author><author><name sortKey="Qin, Jiong" sort="Qin, Jiong" uniqKey="Qin J" first="Jiong" last="Qin">Jiong Qin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing</wicri:regionArea></affiliation></author><author><name sortKey="Marques, Ruben" sort="Marques, Ruben" uniqKey="Marques R" first="Ruben" last="Marques">Ruben Marques</name><affiliation wicri:level="1"><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Novartis Farma S.p.A, Origgio</wicri:regionArea></affiliation></author><author><name sortKey="Sander, Valentin" sort="Sander, Valentin" uniqKey="Sander V" first="Valentin" last="Sander">Valentin Sander</name><affiliation wicri:level="1"><nlm:affiliation>Tallinn Children Hospital, Tallinn, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Tallinn Children Hospital, Tallinn</wicri:regionArea></affiliation></author><author><name sortKey="Sauter, Matthias" sort="Sauter, Matthias" uniqKey="Sauter M" first="Matthias" last="Sauter">Matthias Sauter</name><affiliation wicri:level="1"><nlm:affiliation>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten</wicri:regionArea></affiliation></author><author><name sortKey="Takahashi, Yukitoshi" sort="Takahashi, Yukitoshi" uniqKey="Takahashi Y" first="Yukitoshi" last="Takahashi">Yukitoshi Takahashi</name><affiliation wicri:level="1"><nlm:affiliation>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka</wicri:regionArea></affiliation></author><author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name><affiliation wicri:level="1"><nlm:affiliation>Hôpital Nord, Saint Etienne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Nord, Saint Etienne</wicri:regionArea></affiliation></author><author><name sortKey="Youroukos, Sotiris" sort="Youroukos, Sotiris" uniqKey="Youroukos S" first="Sotiris" last="Youroukos">Sotiris Youroukos</name><affiliation wicri:level="1"><nlm:affiliation>"St. Sophia" Children's Hospital, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>"St. Sophia" Children's Hospital, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Zonnenberg, Bernard" sort="Zonnenberg, Bernard" uniqKey="Zonnenberg B" first="Bernard" last="Zonnenberg">Bernard Zonnenberg</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center, Utrecht, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center, Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Jansen, Anna C" sort="Jansen, Anna C" uniqKey="Jansen A" first="Anna C" last="Jansen">Anna C. Jansen</name><affiliation wicri:level="1"><nlm:affiliation>UZ Brussel VUB, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>UZ Brussel VUB, Brussels</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28057044</idno><idno type="pmid">28057044</idno><idno type="doi">10.1186/s13023-016-0553-5</idno><idno type="wicri:Area/PubMed/Corpus">001233</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001233</idno><idno type="wicri:Area/PubMed/Curation">001222</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001222</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.</title><author><name sortKey="Kingswood, John C" sort="Kingswood, John C" uniqKey="Kingswood J" first="John C" last="Kingswood">John C. Kingswood</name><affiliation wicri:level="1"><nlm:affiliation>Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. chris.kingswood@bsuh.nhs.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE</wicri:regionArea></affiliation></author><author><name sortKey="D Augeres, Guillaume B" sort="D Augeres, Guillaume B" uniqKey="D Augeres G" first="Guillaume B" last="D'Augères">Guillaume B. D'Augères</name><affiliation wicri:level="1"><nlm:affiliation>Association Sclérose Tubéreuse de Bourneville, Gradignan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Association Sclérose Tubéreuse de Bourneville, Gradignan</wicri:regionArea></affiliation></author><author><name sortKey="Belousova, Elena" sort="Belousova, Elena" uniqKey="Belousova E" first="Elena" last="Belousova">Elena Belousova</name><affiliation wicri:level="1"><nlm:affiliation>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow</wicri:regionArea></affiliation></author><author><name sortKey="Ferreira, Jose C" sort="Ferreira, Jose C" uniqKey="Ferreira J" first="José C" last="Ferreira">José C. Ferreira</name><affiliation wicri:level="1"><nlm:affiliation>Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.</nlm:affiliation><country xml:lang="fr">Portugal</country><wicri:regionArea>Centro Hospitalar Lisboa Ocidental, Lisbon</wicri:regionArea></affiliation></author><author><name sortKey="Carter, Tom" sort="Carter, Tom" uniqKey="Carter T" first="Tom" last="Carter">Tom Carter</name><affiliation wicri:level="1"><nlm:affiliation>TSA Tuberous Sclerosis Association, Nottingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>TSA Tuberous Sclerosis Association, Nottingham</wicri:regionArea></affiliation></author><author><name sortKey="Castellana, Ramon" sort="Castellana, Ramon" uniqKey="Castellana R" first="Ramon" last="Castellana">Ramon Castellana</name><affiliation wicri:level="1"><nlm:affiliation>Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Cottin, Vincent" sort="Cottin, Vincent" uniqKey="Cottin V" first="Vincent" last="Cottin">Vincent Cottin</name><affiliation wicri:level="1"><nlm:affiliation>Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Curatolo, Paolo" sort="Curatolo, Paolo" uniqKey="Curatolo P" first="Paolo" last="Curatolo">Paolo Curatolo</name><affiliation wicri:level="1"><nlm:affiliation>Tor Vergata University Hospital, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Tor Vergata University Hospital, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Dahlin, Maria" sort="Dahlin, Maria" uniqKey="Dahlin M" first="Maria" last="Dahlin">Maria Dahlin</name><affiliation wicri:level="1"><nlm:affiliation>Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Karolinska University Hospital, Stockholm</wicri:regionArea></affiliation></author><author><name sortKey="De Vries, Petrus J" sort="De Vries, Petrus J" uniqKey="De Vries P" first="Petrus J" last="De Vries">Petrus J. De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town</wicri:regionArea></affiliation></author><author><name sortKey="Feucht, Martha" sort="Feucht, Martha" uniqKey="Feucht M" first="Martha" last="Feucht">Martha Feucht</name><affiliation wicri:level="1"><nlm:affiliation>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Fladrowski, Carla" sort="Fladrowski, Carla" uniqKey="Fladrowski C" first="Carla" last="Fladrowski">Carla Fladrowski</name><affiliation wicri:level="1"><nlm:affiliation>Associazione Sclerosi Tuberosa ONLUS, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Associazione Sclerosi Tuberosa ONLUS, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Gislimberti, Gabriella" sort="Gislimberti, Gabriella" uniqKey="Gislimberti G" first="Gabriella" last="Gislimberti">Gabriella Gislimberti</name><affiliation wicri:level="1"><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Novartis Farma S.p.A, Origgio</wicri:regionArea></affiliation></author><author><name sortKey="Hertzberg, Christoph" sort="Hertzberg, Christoph" uniqKey="Hertzberg C" first="Christoph" last="Hertzberg">Christoph Hertzberg</name><affiliation wicri:level="1"><nlm:affiliation>Vivantes-Klinikum Neukölln, Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Vivantes-Klinikum Neukölln, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Jozwiak, Sergiusz" sort="Jozwiak, Sergiusz" uniqKey="Jozwiak S" first="Sergiusz" last="Jozwiak">Sergiusz Jozwiak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Child Neurology, Warsaw Medical University, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Lawson, John A" sort="Lawson, John A" uniqKey="Lawson J" first="John A" last="Lawson">John A. Lawson</name><affiliation wicri:level="1"><nlm:affiliation>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW</wicri:regionArea></affiliation></author><author><name sortKey="Macaya, Alfons" sort="Macaya, Alfons" uniqKey="Macaya A" first="Alfons" last="Macaya">Alfons Macaya</name><affiliation wicri:level="1"><nlm:affiliation>Hospital Universitari Vall d'Hebron, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Universitari Vall d'Hebron, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation wicri:level="1"><nlm:affiliation>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris</wicri:regionArea></affiliation></author><author><name sortKey="O Callaghan, Finbar" sort="O Callaghan, Finbar" uniqKey="O Callaghan F" first="Finbar" last="O'Callaghan">Finbar O'Callaghan</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, University College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Benedik, Mirjana P" sort="Benedik, Mirjana P" uniqKey="Benedik M" first="Mirjana P" last="Benedik">Mirjana P. Benedik</name><affiliation wicri:level="1"><nlm:affiliation>SPS Pediatrična Klinika, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>SPS Pediatrična Klinika, Ljubljana</wicri:regionArea></affiliation></author><author><name sortKey="Qin, Jiong" sort="Qin, Jiong" uniqKey="Qin J" first="Jiong" last="Qin">Jiong Qin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing</wicri:regionArea></affiliation></author><author><name sortKey="Marques, Ruben" sort="Marques, Ruben" uniqKey="Marques R" first="Ruben" last="Marques">Ruben Marques</name><affiliation wicri:level="1"><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Novartis Farma S.p.A, Origgio</wicri:regionArea></affiliation></author><author><name sortKey="Sander, Valentin" sort="Sander, Valentin" uniqKey="Sander V" first="Valentin" last="Sander">Valentin Sander</name><affiliation wicri:level="1"><nlm:affiliation>Tallinn Children Hospital, Tallinn, Estonia.</nlm:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Tallinn Children Hospital, Tallinn</wicri:regionArea></affiliation></author><author><name sortKey="Sauter, Matthias" sort="Sauter, Matthias" uniqKey="Sauter M" first="Matthias" last="Sauter">Matthias Sauter</name><affiliation wicri:level="1"><nlm:affiliation>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten</wicri:regionArea></affiliation></author><author><name sortKey="Takahashi, Yukitoshi" sort="Takahashi, Yukitoshi" uniqKey="Takahashi Y" first="Yukitoshi" last="Takahashi">Yukitoshi Takahashi</name><affiliation wicri:level="1"><nlm:affiliation>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka</wicri:regionArea></affiliation></author><author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name><affiliation wicri:level="1"><nlm:affiliation>Hôpital Nord, Saint Etienne, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Nord, Saint Etienne</wicri:regionArea></affiliation></author><author><name sortKey="Youroukos, Sotiris" sort="Youroukos, Sotiris" uniqKey="Youroukos S" first="Sotiris" last="Youroukos">Sotiris Youroukos</name><affiliation wicri:level="1"><nlm:affiliation>"St. Sophia" Children's Hospital, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>"St. Sophia" Children's Hospital, Athens</wicri:regionArea></affiliation></author><author><name sortKey="Zonnenberg, Bernard" sort="Zonnenberg, Bernard" uniqKey="Zonnenberg B" first="Bernard" last="Zonnenberg">Bernard Zonnenberg</name><affiliation wicri:level="1"><nlm:affiliation>University Medical Center, Utrecht, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center, Utrecht</wicri:regionArea></affiliation></author><author><name sortKey="Jansen, Anna C" sort="Jansen, Anna C" uniqKey="Jansen A" first="Anna C" last="Jansen">Anna C. Jansen</name><affiliation wicri:level="1"><nlm:affiliation>UZ Brussel VUB, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>UZ Brussel VUB, Brussels</wicri:regionArea></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28057044</PMID><DateCreated><Year>2017</Year><Month>01</Month><Day>06</Day></DateCreated><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>12</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month><Day>05</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.</ArticleTitle><Pagination><MedlinePgn>2</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-016-0553-5</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included. The registry includes a "core" section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. "Subsections" of the registry recorded additional data related to specific features of TSC.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Baseline "core" data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13 years (range, 0-71) and at diagnosis of TSC was 1 year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), ≥ 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at ≤ 2 years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kingswood</LastName><ForeName>John C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. chris.kingswood@bsuh.nhs.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>d'Augères</LastName><ForeName>Guillaume B</ForeName><Initials>GB</Initials><AffiliationInfo><Affiliation>Association Sclérose Tubéreuse de Bourneville, Gradignan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Belousova</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ferreira</LastName><ForeName>José C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carter</LastName><ForeName>Tom</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>TSA Tuberous Sclerosis Association, Nottingham, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Castellana</LastName><ForeName>Ramon</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cottin</LastName><ForeName>Vincent</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Curatolo</LastName><ForeName>Paolo</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Tor Vergata University Hospital, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dahlin</LastName><ForeName>Maria</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Karolinska University Hospital, Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Vries</LastName><ForeName>Petrus J</ForeName><Initials>PJ</Initials><AffiliationInfo><Affiliation>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Feucht</LastName><ForeName>Martha</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fladrowski</LastName><ForeName>Carla</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Associazione Sclerosi Tuberosa ONLUS, Milan, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>European Tuberous Sclerosis Complex Association, In den Birken, Dattein, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gislimberti</LastName><ForeName>Gabriella</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Novartis Farma S.p.A, Origgio, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hertzberg</LastName><ForeName>Christoph</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Vivantes-Klinikum Neukölln, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jozwiak</LastName><ForeName>Sergiusz</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lawson</LastName><ForeName>John A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Macaya</LastName><ForeName>Alfons</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Hospital Universitari Vall d'Hebron, Barcelona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nabbout</LastName><ForeName>Rima</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>O'Callaghan</LastName><ForeName>Finbar</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Child Health, University College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Benedik</LastName><ForeName>Mirjana P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>SPS Pediatrična Klinika, Ljubljana, Slovenia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Qin</LastName><ForeName>Jiong</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marques</LastName><ForeName>Ruben</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Novartis Farma S.p.A, Origgio, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sander</LastName><ForeName>Valentin</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Tallinn Children Hospital, Tallinn, Estonia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sauter</LastName><ForeName>Matthias</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Takahashi</LastName><ForeName>Yukitoshi</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Touraine</LastName><ForeName>Renaud</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Hôpital Nord, Saint Etienne, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Youroukos</LastName><ForeName>Sotiris</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>"St. Sophia" Children's Hospital, Athens, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zonnenberg</LastName><ForeName>Bernard</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>University Medical Center, Utrecht, Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jansen</LastName><ForeName>Anna C</ForeName><Initials>AC</Initials><AffiliationInfo><Affiliation>UZ Brussel VUB, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>TOSCA consortium and TOSCA investigators</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>01</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Orphanet J Rare Dis</MedlineTA><NlmUniqueID>101266602</NlmUniqueID><ISSNLinking>1750-1172</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections 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Version="1">23312829</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Angiomyolipoma</Keyword><Keyword MajorTopicYN="N">Epilepsy</Keyword><Keyword MajorTopicYN="N">Registry</Keyword><Keyword MajorTopicYN="N">Subependymal giant cell astrocytoma</Keyword><Keyword MajorTopicYN="N">TOSCA</Keyword><Keyword MajorTopicYN="N">Tuberous sclerosis</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>12</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>1</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>1</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>1</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28057044</ArticleId><ArticleId IdType="doi">10.1186/s13023-016-0553-5</ArticleId><ArticleId IdType="pii">10.1186/s13023-016-0553-5</ArticleId><ArticleId IdType="pmc">PMC5217262</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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