Matches in SemOpenAlex for { <https://semopenalex.org/work/W1983955231> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W1983955231 abstract "Introduction The determination of HLA class II genotype is widely used to confirm the diagnosis of Narcolepsy without (N) or with Cataplexy (NC). The use of HLA genotyping in clinical diagnosis is reliable and is a contributing factor to the reinforcement of the wide acceptance of the hypothesis of autoimmune origin for Narcolepsy. We evaluate the contribution of genetic markers (HLA) in the differential diagnosis between narcolepsy with and without Cataplexy and their relevance in the context of our population (Northern Portugal). Materials and methods A cohort of 53 patients with Narcolepsy with Cataplexy (NC) or without (N) was studied. Patients followed up to the Outpatient Sleep Clinic of Hospital Santo Antonio/CH Porto were assessed by clinical, night sleep polygraphic recording, MSLT on the following day. Blood sampling for HLA-DQB1 ∗ analysis was performed after informed consent. The genotyping was achieved by using a PCR-Sequence Specific Primer (SSP) methodology. Control Population (CP) comprised 206 reportedly healthy individuals from the same geographic origin. Data from laboratory parameters was confronted with the clinical diagnostic hypothesis. Patients’ clinical reevaluation was considered if phenotype-genotype did not match. Results Of the 53 patients, 14 were classified as N and 39 as NC. The frequency of HLA-DQB1 ∗ 06:02 allele was overrepresented in N and NC patients (43% and 69%, respectively) when compared with the control population (16%) – p value = 1.38 × 10–12 for NC. Interestingly the frequency of the HLA- DQB1 ∗ 03 allele was decreased in NC patients (36% NC vs. 56% CP, p = 0.01917). No differences were found in other DQB1 ∗ 06 frequencies between the cohort of patients and the control population. Conclusion The HLA-DQB1 ∗ 06:02 allele, a susceptibility factor for other autoimmune disorders, was confirmed as the most important susceptibility allele to NC in our population. The frequency of this allele in our NC patients (69%) is within the range of other studies. Such values pointed out to 11.8 OR for NC comparing with 3.9 OR for N patients. These findings point out to the relevance of the allele DQB1 ∗ 0602 in this sleep entity and on the autoimmune involvement in the picture of Narcolepsy–Cataplexy." @default.
- W1983955231 created "2016-06-24" @default.
- W1983955231 creator A5015945216 @default.
- W1983955231 creator A5022907897 @default.
- W1983955231 creator A5028768759 @default.
- W1983955231 creator A5060061244 @default.
- W1983955231 creator A5073087446 @default.
- W1983955231 creator A5088509139 @default.
- W1983955231 date "2013-12-01" @default.
- W1983955231 modified "2023-09-27" @default.
- W1983955231 title "Predictive power of HLA-DQB1∗ to identify narcoleptic patients" @default.
- W1983955231 doi "https://doi.org/10.1016/j.sleep.2013.11.654" @default.
- W1983955231 hasPublicationYear "2013" @default.
- W1983955231 type Work @default.
- W1983955231 sameAs 1983955231 @default.
- W1983955231 citedByCount "0" @default.
- W1983955231 crossrefType "journal-article" @default.
- W1983955231 hasAuthorship W1983955231A5015945216 @default.
- W1983955231 hasAuthorship W1983955231A5022907897 @default.
- W1983955231 hasAuthorship W1983955231A5028768759 @default.
- W1983955231 hasAuthorship W1983955231A5060061244 @default.
- W1983955231 hasAuthorship W1983955231A5073087446 @default.
- W1983955231 hasAuthorship W1983955231A5088509139 @default.
- W1983955231 hasConcept C104317684 @default.
- W1983955231 hasConcept C118552586 @default.
- W1983955231 hasConcept C126322002 @default.
- W1983955231 hasConcept C135763542 @default.
- W1983955231 hasConcept C147483822 @default.
- W1983955231 hasConcept C151730666 @default.
- W1983955231 hasConcept C16568411 @default.
- W1983955231 hasConcept C188280979 @default.
- W1983955231 hasConcept C203014093 @default.
- W1983955231 hasConcept C2775983672 @default.
- W1983955231 hasConcept C2779343474 @default.
- W1983955231 hasConcept C2779494582 @default.
- W1983955231 hasConcept C2780163352 @default.
- W1983955231 hasConcept C2908647359 @default.
- W1983955231 hasConcept C31467283 @default.
- W1983955231 hasConcept C54355233 @default.
- W1983955231 hasConcept C71924100 @default.
- W1983955231 hasConcept C86803240 @default.
- W1983955231 hasConcept C99454951 @default.
- W1983955231 hasConceptScore W1983955231C104317684 @default.
- W1983955231 hasConceptScore W1983955231C118552586 @default.
- W1983955231 hasConceptScore W1983955231C126322002 @default.
- W1983955231 hasConceptScore W1983955231C135763542 @default.
- W1983955231 hasConceptScore W1983955231C147483822 @default.
- W1983955231 hasConceptScore W1983955231C151730666 @default.
- W1983955231 hasConceptScore W1983955231C16568411 @default.
- W1983955231 hasConceptScore W1983955231C188280979 @default.
- W1983955231 hasConceptScore W1983955231C203014093 @default.
- W1983955231 hasConceptScore W1983955231C2775983672 @default.
- W1983955231 hasConceptScore W1983955231C2779343474 @default.
- W1983955231 hasConceptScore W1983955231C2779494582 @default.
- W1983955231 hasConceptScore W1983955231C2780163352 @default.
- W1983955231 hasConceptScore W1983955231C2908647359 @default.
- W1983955231 hasConceptScore W1983955231C31467283 @default.
- W1983955231 hasConceptScore W1983955231C54355233 @default.
- W1983955231 hasConceptScore W1983955231C71924100 @default.
- W1983955231 hasConceptScore W1983955231C86803240 @default.
- W1983955231 hasConceptScore W1983955231C99454951 @default.
- W1983955231 hasLocation W19839552311 @default.
- W1983955231 hasOpenAccess W1983955231 @default.
- W1983955231 hasPrimaryLocation W19839552311 @default.
- W1983955231 hasRelatedWork W1986668193 @default.
- W1983955231 hasRelatedWork W1992283029 @default.
- W1983955231 hasRelatedWork W2000362636 @default.
- W1983955231 hasRelatedWork W2006088522 @default.
- W1983955231 hasRelatedWork W2021798324 @default.
- W1983955231 hasRelatedWork W2024538056 @default.
- W1983955231 hasRelatedWork W2026777532 @default.
- W1983955231 hasRelatedWork W2027500133 @default.
- W1983955231 hasRelatedWork W2033003111 @default.
- W1983955231 hasRelatedWork W2038063085 @default.
- W1983955231 hasRelatedWork W2045924673 @default.
- W1983955231 hasRelatedWork W2046543308 @default.
- W1983955231 hasRelatedWork W2054063451 @default.
- W1983955231 hasRelatedWork W2075333344 @default.
- W1983955231 hasRelatedWork W2110552323 @default.
- W1983955231 hasRelatedWork W2300185419 @default.
- W1983955231 hasRelatedWork W2573267960 @default.
- W1983955231 hasRelatedWork W2754622427 @default.
- W1983955231 hasRelatedWork W3045792820 @default.
- W1983955231 hasRelatedWork W2736613497 @default.
- W1983955231 isParatext "false" @default.
- W1983955231 isRetracted "false" @default.
- W1983955231 magId "1983955231" @default.
- W1983955231 workType "article" @default.