Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis
There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characteri-sation of CFTR-related disorder (CFTR-RD). This is particularly pertinent w...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
November 2023
|
| In: |
Journal of cystic fibrosis
Year: 2023, Jahrgang: 22, Heft: 6, Pages: 963-968 |
| ISSN: | 1873-5010 |
| DOI: | 10.1016/j.jcf.2023.09.008 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jcf.2023.09.008 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1569199323009128?via%3Dihub 
|
| Verfasserangaben: | Carlo Castellani, Nicholas J. Simmonds, Juerg Barben, Charlotte Addy, Amanda Bevan, Pierre-Regis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie C. Landau, Peter G. Middleton, Barry J. Plant, Alan R. Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nahrlich, Karen Raraigh, Isabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W. Southern |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1883718090 | ||
| 003 | DE-627 | ||
| 005 | 20240703154357.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240318s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.jcf.2023.09.008 |2 doi | |
| 035 | |a (DE-627)1883718090 | ||
| 035 | |a (DE-599)KXP1883718090 | ||
| 035 | |a (OCoLC)1443645817 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Castellani, Carlo |e VerfasserIn |0 (DE-588)1054178461 |0 (DE-627)791131742 |0 (DE-576)410061735 |4 aut | |
| 245 | 1 | 0 | |a Standards for the care of people with cystic fibrosis (CF) |b A timely and accurate diagnosis |c Carlo Castellani, Nicholas J. Simmonds, Juerg Barben, Charlotte Addy, Amanda Bevan, Pierre-Regis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie C. Landau, Peter G. Middleton, Barry J. Plant, Alan R. Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nahrlich, Karen Raraigh, Isabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W. Southern |
| 264 | 1 | |c November 2023 | |
| 300 | |a 6 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 18.03.2023 | ||
| 500 | |a Online verfügbar: 27 September 2023, Artikel verfügbar: 1 Dezember 2023 | ||
| 520 | |a There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characteri-sation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant -specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF. | ||
| 650 | 4 | |a CARRIERS | |
| 650 | 4 | |a CFSPID | |
| 650 | 4 | |a CFTR | |
| 650 | 4 | |a CFTR-related disorder | |
| 650 | 4 | |a CRMS/CFSPID | |
| 650 | 4 | |a Cystic fibrosis | |
| 650 | 4 | |a ECFS STANDARDS | |
| 650 | 4 | |a Extended Gene Analysis (EGA) | |
| 650 | 4 | |a INFANTS | |
| 650 | 4 | |a MANAGEMENT | |
| 650 | 4 | |a METABOLIC SYNDROME | |
| 650 | 4 | |a Newborn Bloodspot Screening (NBS) | |
| 650 | 4 | |a PRACTICE GUIDELINES | |
| 650 | 4 | |a RECOMMENDATIONS | |
| 650 | 4 | |a SOCIETY | |
| 700 | 1 | |a Simmonds, Nicholas J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Barben, Juerg |e VerfasserIn |4 aut | |
| 700 | 1 | |a Addy, Charlotte |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bevan, Amanda |e VerfasserIn |4 aut | |
| 700 | 1 | |a Burgel, Pierre-Regis |e VerfasserIn |4 aut | |
| 700 | 1 | |a Drevinek, Pavel |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gartner, Silvia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gramegna, Andrea |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lammertyn, Elise |e VerfasserIn |4 aut | |
| 700 | 1 | |a Landau, Eddie C. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Middleton, Peter G. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Plant, Barry J. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Smyth, Alan R. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Koningsbruggen-Rietschel, Silke van |d 1966- |e VerfasserIn |0 (DE-588)121313107 |0 (DE-627)705375943 |0 (DE-576)29264213X |4 aut | |
| 700 | 1 | |a Girodon, Emmanuelle |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kashirskaya, Nataliya |e VerfasserIn |4 aut | |
| 700 | 1 | |a Munck, Anne |e VerfasserIn |0 (DE-588)1257835556 |0 (DE-627)1802518231 |4 aut | |
| 700 | 1 | |a Nährlich, Lutz |e VerfasserIn |0 (DE-588)1037152239 |0 (DE-627)752324632 |0 (DE-576)391162527 |4 aut | |
| 700 | 1 | |a Raraigh, Karen |e VerfasserIn |4 aut | |
| 700 | 1 | |a Sermet-Gaudelus, Isabelle |e VerfasserIn |0 (DE-588)1024424251 |0 (DE-627)719852781 |0 (DE-576)368443647 |4 aut | |
| 700 | 1 | |a Sommerburg, Olaf |d 1967- |e VerfasserIn |0 (DE-588)172907470 |0 (DE-627)69783543X |0 (DE-576)133762270 |4 aut | |
| 700 | 1 | |a Southern, Kevin W. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of cystic fibrosis |d Amsterdam [u.a.] : Elsevier Science, 2002 |g 22(2023), 6 vom: Nov., Seite 963-968 |h Online-Ressource |w (DE-627)35598539X |w (DE-600)2091075-7 |w (DE-576)271360909 |x 1873-5010 |7 nnas |a Standards for the care of people with cystic fibrosis (CF) A timely and accurate diagnosis |
| 773 | 1 | 8 | |g volume:22 |g year:2023 |g number:6 |g month:11 |g pages:963-968 |g extent:6 |a Standards for the care of people with cystic fibrosis (CF) A timely and accurate diagnosis |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.jcf.2023.09.008 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1569199323009128?via%3Dihub |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240318 | ||
| 993 | |a Article | ||
| 994 | |a 2023 | ||
| 998 | |g 172907470 |a Sommerburg, Olaf |m 172907470:Sommerburg, Olaf |d 910000 |d 910500 |d 50000 |e 910000PS172907470 |e 910500PS172907470 |e 50000PS172907470 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 22 | ||
| 999 | |a KXP-PPN1883718090 |e 4501466073 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"id":{"doi":["10.1016/j.jcf.2023.09.008"],"eki":["1883718090"]},"physDesc":[{"extent":"6 S."}],"name":{"displayForm":["Carlo Castellani, Nicholas J. Simmonds, Juerg Barben, Charlotte Addy, Amanda Bevan, Pierre-Regis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie C. Landau, Peter G. Middleton, Barry J. Plant, Alan R. Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nahrlich, Karen Raraigh, Isabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W. Southern"]},"relHost":[{"disp":"Standards for the care of people with cystic fibrosis (CF) A timely and accurate diagnosisJournal of cystic fibrosis","type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 10.02.2016"],"origin":[{"dateIssuedKey":"2002","publisher":"Elsevier Science","dateIssuedDisp":"2002-","publisherPlace":"Amsterdam [u.a.]"}],"pubHistory":["1.2002 -"],"title":[{"title":"Journal of cystic fibrosis","subtitle":"the official journal of the European Cystic Fibrosis Society","title_sort":"Journal of cystic fibrosis"}],"id":{"eki":["35598539X"],"issn":["1873-5010"],"zdb":["2091075-7"]},"physDesc":[{"extent":"Online-Ressource"}],"recId":"35598539X","titleAlt":[{"title":"Cystic fibrosis"}],"part":{"extent":"6","volume":"22","pages":"963-968","year":"2023","issue":"6","text":"22(2023), 6 vom: Nov., Seite 963-968"},"language":["eng"]}],"recId":"1883718090","type":{"media":"Online-Ressource","bibl":"article-journal"},"title":[{"subtitle":"A timely and accurate diagnosis","title_sort":"Standards for the care of people with cystic fibrosis (CF)","title":"Standards for the care of people with cystic fibrosis (CF)"}],"note":["Gesehen am 18.03.2023","Online verfügbar: 27 September 2023, Artikel verfügbar: 1 Dezember 2023"],"origin":[{"dateIssuedDisp":"November 2023","dateIssuedKey":"2023"}],"language":["eng"],"person":[{"family":"Castellani","display":"Castellani, Carlo","role":"aut","given":"Carlo"},{"given":"Nicholas J.","role":"aut","family":"Simmonds","display":"Simmonds, Nicholas J."},{"given":"Juerg","role":"aut","display":"Barben, Juerg","family":"Barben"},{"family":"Addy","display":"Addy, Charlotte","given":"Charlotte","role":"aut"},{"role":"aut","given":"Amanda","display":"Bevan, Amanda","family":"Bevan"},{"display":"Burgel, Pierre-Regis","family":"Burgel","given":"Pierre-Regis","role":"aut"},{"display":"Drevinek, Pavel","family":"Drevinek","given":"Pavel","role":"aut"},{"role":"aut","given":"Silvia","family":"Gartner","display":"Gartner, Silvia"},{"role":"aut","given":"Andrea","display":"Gramegna, Andrea","family":"Gramegna"},{"given":"Elise","role":"aut","display":"Lammertyn, Elise","family":"Lammertyn"},{"role":"aut","given":"Eddie C.","family":"Landau","display":"Landau, Eddie C."},{"given":"Peter G.","role":"aut","family":"Middleton","display":"Middleton, Peter G."},{"family":"Plant","display":"Plant, Barry J.","role":"aut","given":"Barry J."},{"family":"Smyth","display":"Smyth, Alan R.","role":"aut","given":"Alan R."},{"role":"aut","given":"Silke van","display":"Koningsbruggen-Rietschel, Silke van","family":"Koningsbruggen-Rietschel"},{"role":"aut","given":"Emmanuelle","display":"Girodon, Emmanuelle","family":"Girodon"},{"given":"Nataliya","role":"aut","family":"Kashirskaya","display":"Kashirskaya, Nataliya"},{"role":"aut","given":"Anne","family":"Munck","display":"Munck, Anne"},{"family":"Nährlich","display":"Nährlich, Lutz","role":"aut","given":"Lutz"},{"given":"Karen","role":"aut","family":"Raraigh","display":"Raraigh, Karen"},{"role":"aut","given":"Isabelle","family":"Sermet-Gaudelus","display":"Sermet-Gaudelus, Isabelle"},{"display":"Sommerburg, Olaf","family":"Sommerburg","role":"aut","given":"Olaf"},{"display":"Southern, Kevin W.","family":"Southern","given":"Kevin W.","role":"aut"}]} | ||
| SRT | |a CASTELLANISTANDARDSF2023 | ||