Giray Bozkaya, Nuriye Uzuncan, Sibel Bilgili and Ozlem Demirezen
Background: Hemoglobin A1c, (HbA1c) which is the major constituent of glycated hemoglobin, has been used in the follow-up of retrospective glycemia for years and in the diagnosis of diabetes mellitus nowadays. Since the analytical performance of HbA1c should be high likewise all laboratory tests, various quality control measures are used. Sigma metrics is one of these measures and it is the combination of bias, precision and total allowable error that ensures a general evaluation of analytical quality. The aim of our study was to evaluate the analytical performance of Bio-Rad’s Variant Turbo II HbA1c analyzer according to sigma metrics.
Methods: Sigma levels were calculated using the data obtained from two levels of internal and 12 external quality control materials (Bio-Rad) of Variant II Turbo HbA1c analyzer according to s= (TEa% - Bias%) / CV% formula.
Results: The mean sigma levels for low and high quality control materials were found to be 3.0 and 4.1, respectively.
Conclusions: The annual mean analytical performance of Variant II Turbo HbA1c analyzer was found to be acceptable according to sigma metrics. In order to be sure of the difference in HbA1c results indicating the success or failure in treatment but not arise from analytical variation, it is thought that more stringent quality control measures should be applied to reach higher sigma levels.
Ozlem Giray Bozkaya, E. Ataman, C. Randa, D. Onur Cura, S. Gürsoy, O. Aksel and A. Ulgenalp
The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.
Esin Eren, Furkan Yıldırım, Ozlem Giray and Necat Yilmaz
Hyperbaric oxygen (HBO) treatment is generally a relatively safe therapy for various conditions. However, there are some adverse side effects. For example HBO tratment has been reported to increase the production of free oxygen radicals(FRs). Furthermore, to our knowledge, no previous clinical research has been carried out to study the involvement of platelet-activating factor(PAF)as the lipid oxidative stressor in patients undergoing HBO treatment. A total of 45 patients included in this study were first given clinical assessment and laboratory measurements before starting HBO treatment and were named group baseline. After the HBO treatment, the same clinical and laboratory measurements from the same patients were repeated and this was named group sesion >20.As expected, long-term HBO treatment had no effect on oxLDL (oxidized low-density lipoprotein), a lipid oxidative stress(OS) marker. However, the mean PAF values in the second group showed a statistically significant increase compared to their pretreatment values, (P <0. 002).As this is a preliminary study, there is a need for more detailed investigations that demonstrate the association of HBO treatment with the lipid inflammatory response. Therefore, there is need for further clinical study for OS markers such as oxLDL in HBO treatment. Clinical prospective studies are required to confirm our laboratory findings.