TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Identifieur interne : 001233 ( PubMed/Corpus ); précédent : 001232; suivant : 001234TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Auteurs : John C. Kingswood ; Guillaume B. D'Augères ; Elena Belousova ; José C. Ferreira ; Tom Carter ; Ramon Castellana ; Vincent Cottin ; Paolo Curatolo ; Maria Dahlin ; Petrus J. De Vries ; Martha Feucht ; Carla Fladrowski ; Gabriella Gislimberti ; Christoph Hertzberg ; Sergiusz Jozwiak ; John A. Lawson ; Alfons Macaya ; Rima Nabbout ; Finbar O'Callaghan ; Mirjana P. Benedik ; Jiong Qin ; Ruben Marques ; Valentin Sander ; Matthias Sauter ; Yukitoshi Takahashi ; Renaud Touraine ; Sotiris Youroukos ; Bernard Zonnenberg ; Anna C. JansenSource :
- 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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<record><TEI><teiHeader><fileDesc><titleStmt><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><nlm:affiliation>Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. chris.kingswood@bsuh.nhs.uk.</nlm:affiliation></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><nlm:affiliation>Association Sclérose Tubéreuse de Bourneville, Gradignan, France.</nlm:affiliation></affiliation></author><author><name sortKey="Belousova, Elena" sort="Belousova, Elena" uniqKey="Belousova E" first="Elena" last="Belousova">Elena Belousova</name><affiliation><nlm:affiliation>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation.</nlm:affiliation></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><nlm:affiliation>Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Carter, Tom" sort="Carter, Tom" uniqKey="Carter T" first="Tom" last="Carter">Tom Carter</name><affiliation><nlm:affiliation>TSA Tuberous Sclerosis Association, Nottingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Castellana, Ramon" sort="Castellana, Ramon" uniqKey="Castellana R" first="Ramon" last="Castellana">Ramon Castellana</name><affiliation><nlm:affiliation>Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Cottin, Vincent" sort="Cottin, Vincent" uniqKey="Cottin V" first="Vincent" last="Cottin">Vincent Cottin</name><affiliation><nlm:affiliation>Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Curatolo, Paolo" sort="Curatolo, Paolo" uniqKey="Curatolo P" first="Paolo" last="Curatolo">Paolo Curatolo</name><affiliation><nlm:affiliation>Tor Vergata University Hospital, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Dahlin, Maria" sort="Dahlin, Maria" uniqKey="Dahlin M" first="Maria" last="Dahlin">Maria Dahlin</name><affiliation><nlm:affiliation>Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation></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><nlm:affiliation>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.</nlm:affiliation></affiliation></author><author><name sortKey="Feucht, Martha" sort="Feucht, Martha" uniqKey="Feucht M" first="Martha" last="Feucht">Martha Feucht</name><affiliation><nlm:affiliation>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Fladrowski, Carla" sort="Fladrowski, Carla" uniqKey="Fladrowski C" first="Carla" last="Fladrowski">Carla Fladrowski</name><affiliation><nlm:affiliation>Associazione Sclerosi Tuberosa ONLUS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gislimberti, Gabriella" sort="Gislimberti, Gabriella" uniqKey="Gislimberti G" first="Gabriella" last="Gislimberti">Gabriella Gislimberti</name><affiliation><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Hertzberg, Christoph" sort="Hertzberg, Christoph" uniqKey="Hertzberg C" first="Christoph" last="Hertzberg">Christoph Hertzberg</name><affiliation><nlm:affiliation>Vivantes-Klinikum Neukölln, Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Jozwiak, Sergiusz" sort="Jozwiak, Sergiusz" uniqKey="Jozwiak S" first="Sergiusz" last="Jozwiak">Sergiusz Jozwiak</name><affiliation><nlm:affiliation>Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.</nlm:affiliation></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><nlm:affiliation>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Macaya, Alfons" sort="Macaya, Alfons" uniqKey="Macaya A" first="Alfons" last="Macaya">Alfons Macaya</name><affiliation><nlm:affiliation>Hospital Universitari Vall d'Hebron, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation><nlm:affiliation>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.</nlm:affiliation></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><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation></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><nlm:affiliation>SPS Pediatrična Klinika, Ljubljana, Slovenia.</nlm:affiliation></affiliation></author><author><name sortKey="Qin, Jiong" sort="Qin, Jiong" uniqKey="Qin J" first="Jiong" last="Qin">Jiong Qin</name><affiliation><nlm:affiliation>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China.</nlm:affiliation></affiliation></author><author><name sortKey="Marques, Ruben" sort="Marques, Ruben" uniqKey="Marques R" first="Ruben" last="Marques">Ruben Marques</name><affiliation><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Sander, Valentin" sort="Sander, Valentin" uniqKey="Sander V" first="Valentin" last="Sander">Valentin Sander</name><affiliation><nlm:affiliation>Tallinn Children Hospital, Tallinn, Estonia.</nlm:affiliation></affiliation></author><author><name sortKey="Sauter, Matthias" sort="Sauter, Matthias" uniqKey="Sauter M" first="Matthias" last="Sauter">Matthias Sauter</name><affiliation><nlm:affiliation>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Takahashi, Yukitoshi" sort="Takahashi, Yukitoshi" uniqKey="Takahashi Y" first="Yukitoshi" last="Takahashi">Yukitoshi Takahashi</name><affiliation><nlm:affiliation>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name><affiliation><nlm:affiliation>Hôpital Nord, Saint Etienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Youroukos, Sotiris" sort="Youroukos, Sotiris" uniqKey="Youroukos S" first="Sotiris" last="Youroukos">Sotiris Youroukos</name><affiliation><nlm:affiliation>"St. Sophia" Children's Hospital, Athens, Greece.</nlm:affiliation></affiliation></author><author><name sortKey="Zonnenberg, Bernard" sort="Zonnenberg, Bernard" uniqKey="Zonnenberg B" first="Bernard" last="Zonnenberg">Bernard Zonnenberg</name><affiliation><nlm:affiliation>University Medical Center, Utrecht, Netherlands.</nlm:affiliation></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><nlm:affiliation>UZ Brussel VUB, Brussels, Belgium.</nlm:affiliation></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></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><nlm:affiliation>Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. chris.kingswood@bsuh.nhs.uk.</nlm:affiliation></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><nlm:affiliation>Association Sclérose Tubéreuse de Bourneville, Gradignan, France.</nlm:affiliation></affiliation></author><author><name sortKey="Belousova, Elena" sort="Belousova, Elena" uniqKey="Belousova E" first="Elena" last="Belousova">Elena Belousova</name><affiliation><nlm:affiliation>Moscow Institute of Pediatrics and Pediatric Surgery, Moscow, Russian Federation.</nlm:affiliation></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><nlm:affiliation>Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.</nlm:affiliation></affiliation></author><author><name sortKey="Carter, Tom" sort="Carter, Tom" uniqKey="Carter T" first="Tom" last="Carter">Tom Carter</name><affiliation><nlm:affiliation>TSA Tuberous Sclerosis Association, Nottingham, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Castellana, Ramon" sort="Castellana, Ramon" uniqKey="Castellana R" first="Ramon" last="Castellana">Ramon Castellana</name><affiliation><nlm:affiliation>Novartis Farmacéutica SA, Gran Vía Corts Catalanes, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Cottin, Vincent" sort="Cottin, Vincent" uniqKey="Cottin V" first="Vincent" last="Cottin">Vincent Cottin</name><affiliation><nlm:affiliation>Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Curatolo, Paolo" sort="Curatolo, Paolo" uniqKey="Curatolo P" first="Paolo" last="Curatolo">Paolo Curatolo</name><affiliation><nlm:affiliation>Tor Vergata University Hospital, Rome, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Dahlin, Maria" sort="Dahlin, Maria" uniqKey="Dahlin M" first="Maria" last="Dahlin">Maria Dahlin</name><affiliation><nlm:affiliation>Karolinska University Hospital, Stockholm, Sweden.</nlm:affiliation></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><nlm:affiliation>Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.</nlm:affiliation></affiliation></author><author><name sortKey="Feucht, Martha" sort="Feucht, Martha" uniqKey="Feucht M" first="Martha" last="Feucht">Martha Feucht</name><affiliation><nlm:affiliation>Universitätsklinik für Kinder-und Jugendheilkunde, Vienna, Austria.</nlm:affiliation></affiliation></author><author><name sortKey="Fladrowski, Carla" sort="Fladrowski, Carla" uniqKey="Fladrowski C" first="Carla" last="Fladrowski">Carla Fladrowski</name><affiliation><nlm:affiliation>Associazione Sclerosi Tuberosa ONLUS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Gislimberti, Gabriella" sort="Gislimberti, Gabriella" uniqKey="Gislimberti G" first="Gabriella" last="Gislimberti">Gabriella Gislimberti</name><affiliation><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Hertzberg, Christoph" sort="Hertzberg, Christoph" uniqKey="Hertzberg C" first="Christoph" last="Hertzberg">Christoph Hertzberg</name><affiliation><nlm:affiliation>Vivantes-Klinikum Neukölln, Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Jozwiak, Sergiusz" sort="Jozwiak, Sergiusz" uniqKey="Jozwiak S" first="Sergiusz" last="Jozwiak">Sergiusz Jozwiak</name><affiliation><nlm:affiliation>Department of Child Neurology, Warsaw Medical University, Warsaw, Poland.</nlm:affiliation></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><nlm:affiliation>The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Macaya, Alfons" sort="Macaya, Alfons" uniqKey="Macaya A" first="Alfons" last="Macaya">Alfons Macaya</name><affiliation><nlm:affiliation>Hospital Universitari Vall d'Hebron, Barcelona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Nabbout, Rima" sort="Nabbout, Rima" uniqKey="Nabbout R" first="Rima" last="Nabbout">Rima Nabbout</name><affiliation><nlm:affiliation>Department of pediatric neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.</nlm:affiliation></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><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation></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><nlm:affiliation>SPS Pediatrična Klinika, Ljubljana, Slovenia.</nlm:affiliation></affiliation></author><author><name sortKey="Qin, Jiong" sort="Qin, Jiong" uniqKey="Qin J" first="Jiong" last="Qin">Jiong Qin</name><affiliation><nlm:affiliation>Department of Pediatrics, Peking University People's Hospital (PKUPH), Beijing, China.</nlm:affiliation></affiliation></author><author><name sortKey="Marques, Ruben" sort="Marques, Ruben" uniqKey="Marques R" first="Ruben" last="Marques">Ruben Marques</name><affiliation><nlm:affiliation>Novartis Farma S.p.A, Origgio, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Sander, Valentin" sort="Sander, Valentin" uniqKey="Sander V" first="Valentin" last="Sander">Valentin Sander</name><affiliation><nlm:affiliation>Tallinn Children Hospital, Tallinn, Estonia.</nlm:affiliation></affiliation></author><author><name sortKey="Sauter, Matthias" sort="Sauter, Matthias" uniqKey="Sauter M" first="Matthias" last="Sauter">Matthias Sauter</name><affiliation><nlm:affiliation>Klinikverbund Kempten-Oberallgäu gGmbH, Kempten, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Takahashi, Yukitoshi" sort="Takahashi, Yukitoshi" uniqKey="Takahashi Y" first="Yukitoshi" last="Takahashi">Yukitoshi Takahashi</name><affiliation><nlm:affiliation>National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, 886 Urushiyama Aoi-ku, Shizuoka, Japan.</nlm:affiliation></affiliation></author><author><name sortKey="Touraine, Renaud" sort="Touraine, Renaud" uniqKey="Touraine R" first="Renaud" last="Touraine">Renaud Touraine</name><affiliation><nlm:affiliation>Hôpital Nord, Saint Etienne, France.</nlm:affiliation></affiliation></author><author><name sortKey="Youroukos, Sotiris" sort="Youroukos, Sotiris" uniqKey="Youroukos S" first="Sotiris" last="Youroukos">Sotiris Youroukos</name><affiliation><nlm:affiliation>"St. Sophia" Children's Hospital, Athens, Greece.</nlm:affiliation></affiliation></author><author><name sortKey="Zonnenberg, Bernard" sort="Zonnenberg, Bernard" uniqKey="Zonnenberg B" first="Bernard" last="Zonnenberg">Bernard Zonnenberg</name><affiliation><nlm:affiliation>University Medical Center, Utrecht, Netherlands.</nlm:affiliation></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><nlm:affiliation>UZ Brussel VUB, Brussels, Belgium.</nlm:affiliation></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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