Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?

Basit Öğe Kaydı
dc.contributor.authorGokturk, Bahar
dc.contributor.authorGuner, Sukru Nail
dc.contributor.authorKara, Reyhan
dc.contributor.authorKirac, Mine
dc.contributor.authorKeles, Sevgi
dc.contributor.authorArtac, Hasibe
dc.contributor.authorZamani, Ayse Gul
dc.date.accessioned2024-02-23T14:29:16Z
dc.date.available2024-02-23T14:29:16Z
dc.date.issued2016
dc.departmentNEÜen_US
dc.description.abstractBackground: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.en_US
dc.identifier.doi10.12932/AP0604.34.2.2016
dc.identifier.endpage173en_US
dc.identifier.issn0125-877X
dc.identifier.issn2228-8694
dc.identifier.issue2en_US
dc.identifier.pmid27007839en_US
dc.identifier.scopus2-s2.0-84982290290en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage166en_US
dc.identifier.urihttps://doi.org/10.12932/AP0604.34.2.2016
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14637
dc.identifier.volume34en_US
dc.identifier.wosWOS:000382182900011en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAllergy Immunol Soc Thailanden_US
dc.relation.ispartofAsian Pacific Journal Of Allergy And Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject22q11.2 Deletion Syndromeen_US
dc.subjectDigeorge Syndromeen_US
dc.subjectMean Platelet Volumeen_US
dc.subjectPlatelet Counten_US
dc.subjectPlatelet Membrane Glycoproteinsen_US
dc.titleWould mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?en_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu