WFRF:(Malmros I. N. O.)
Search: WFRF:(Malmros I. N. O.) > (2005-2007) > Paroxysmal extreme ...
- 1 of 1
- Previous record
- Next record
- To hitlist
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03467naa a2200493 4500 | |
| 001 | oai:DiVA.org:uu-14384 | |
| 003 | SwePub | |
| 008 | 080130s2007 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-143842 URI |
| 024 | 7 | a https://doi.org/10.1212/01.wnl.0000268065.16865.5f2 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Fertleman, C. R.4 aut |
| 245 | 1 0 | a Paroxysmal extreme pain disorder (previously familial rectal pain syndrome) |
| 264 | c 2007-08-06 | |
| 264 | 1 | b Ovid Technologies (Wolters Kluwer Health),c 2007 |
| 338 | a print2 rdacarrier | |
| 520 | a OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures. | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Ferrie, C. D.4 aut |
| 700 | 1 | a Aicardi, J.4 aut |
| 700 | 1 | a Bednarek, N. A. F.4 aut |
| 700 | 1 | a Eeg-Olofsson, Orvaru Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten4 aut0 (Swepub:uu)orvareo |
| 700 | 1 | a Elmslie, F. V.4 aut |
| 700 | 1 | a Griesemer, D. A.4 aut |
| 700 | 1 | a Goutières, F.4 aut |
| 700 | 1 | a Kirkpatrick, M.4 aut |
| 700 | 1 | a Malmros, I. N. O.4 aut |
| 700 | 1 | a Pollitzer, M.4 aut |
| 700 | 1 | a Rossiter, M.4 aut |
| 700 | 1 | a Roulet-Perez, E.4 aut |
| 700 | 1 | a Schubert, R.4 aut |
| 700 | 1 | a Smith, V. V.4 aut |
| 700 | 1 | a Testard, H.4 aut |
| 700 | 1 | a Wong, V.4 aut |
| 700 | 1 | a Stephenson, J. B. P.4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för kvinnors och barns hälsa4 org |
| 773 | 0 | t Neurologyd : Ovid Technologies (Wolters Kluwer Health)g 69:6, s. 586-595q 69:6<586-595x 0028-3878x 1526-632X |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-14384 |
| 856 | 4 8 | u https://doi.org/10.1212/01.wnl.0000268065.16865.5f |
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Fertleman, C. R.
- Ferrie, C. D.
- Aicardi, J.
- Bednarek, N. A. ...
- Eeg-Olofsson, Or ...
- Elmslie, F. V.
- show more...
- Griesemer, D. A.
- Goutières, F.
- Kirkpatrick, M.
- Malmros, I. N. O ...
- Pollitzer, M.
- Rossiter, M.
- Roulet-Perez, E.
- Schubert, R.
- Smith, V. V.
- Testard, H.
- Wong, V.
- Stephenson, J. B ...
- show less...
- Articles in the publication
- Neurology
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
