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

Küçük Resim Yok

Tarih

2016

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

ALLERGY IMMUNOL SOC THAILAND

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Background: 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.

Açıklama

Anahtar Kelimeler

22q11.2 deletion syndrome, DiGeorge syndrome, mean platelet volume, platelet count, platelet membrane glycoproteins

Kaynak

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY

WoS Q Değeri

Q4

Scopus Q Değeri

Q2

Cilt

34

Sayı

2

Künye