L773:1471 2350
Sökning: L773:1471 2350 > Incidence of heredi...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05083naa a2200421 4500 | |
| 001 | oai:lup.lub.lu.se:4b45fd4d-1c81-4391-8d69-6769497c8c85 | |
| 003 | SwePub | |
| 008 | 160401s2013 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/40622742 URI |
| 024 | 7 | a https://doi.org/10.1186/1471-2350-14-882 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Hemminki, Kariu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-khk |
| 245 | 1 0 | a Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases |
| 264 | c 2013-09-03 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2013 |
| 338 | a electronic2 rdacarrier | |
| 520 | a Background: Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been identified as familial amyloidotic polyneuropathy (FAP), a fatal disease that is treated by liver transplantation. The non-neuropathic form includes familial autoinflammatory diseases. As no incidence data on these hereditary diseases are available and as even diagnostic data on non-neuropathic forms are lacking we determined the incidence of these diseases and characterized non-neuropathic conditions. Methods: Patients were identified using data from the Swedish Hospital Discharge Register and from the Outpatient Register for 2001 through 2008. All patients discharged with hereditary amyloidosis diagnoses were included and standardized incidence rates were calculated. Results: Non-neuropathic disease was diagnosed in 210 patients, with an incidence of 2.83 per million. FAP was diagnosed in 221 patients, with an incidence of 2.02 per million. Two northern provinces that are home to 5% of the Swedish population accounted for 77% of FAP cases; the incidence in one of them, West Bothnia, was 100 times that in the rest of Sweden. Approximately 98% of non-neuropathic disease patients were immigrants, most of whom were from the Eastern Mediterranean area. Young Syrian descendants had the highest incidence rate, which was over 500-fold higher than that in individuals with Swedish parents. Even the early onset of these conditions identified them as familial autoinflammatory diseases. Conclusions: FAP cases were highly concentrated in the two northernmost provinces. Non-neuropathic familial autoinflammatory diseases were of early-onset and immigrant origin most likely related to periodic fever syndromes. Paradoxically, FAP has remained endemic, in spite of population movements within the country, while familial autoinflammatory diseases, with an incidence exceeding that of FAP, were brought into the country as a result of immigration mainly from the Eastern Mediterranean area. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a Hospitalization | |
| 653 | a Heritable amyloidosis | |
| 653 | a Periodic fever syndrome | |
| 653 | a Mutation | |
| 700 | 1 | a Li, Xinjunu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-xul |
| 700 | 1 | a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-asf |
| 700 | 1 | a Sundquist, Janu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-jsu |
| 700 | 1 | a Sundquist, Kristinau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-ksq |
| 710 | 2 | a Allmänmedicin och klinisk epidemiologib Forskargrupper vid Lunds universitet4 org |
| 773 | 0 | t BMC Medical Geneticsd : Springer Science and Business Media LLCg 14q 14x 1471-2350 |
| 856 | 4 | u https://portal.research.lu.se/files/3110755/4882232.pdfx primaryx freey FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1186/1471-2350-14-88x freey FULLTEXT |
| 856 | 4 | u https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/1471-2350-14-88 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/4062274 |
| 856 | 4 8 | u https://doi.org/10.1186/1471-2350-14-88 |
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