Halk sağlığı laboratuvarında preanalitik hatalara yaklaşım

Amaç: Preanalitik hataları azaltmak amacı ile yapılan eğitimin ve Laboratuvar Bilgi Sistemi ile tüp barkotlama sisteminde yapılan teknolojik yeniliklerin etkisini ortaya koymak çalışmamızda amaçlanmıştır.Gereç ve Yöntem: İyileştirmelerin sonuçlarını değerlendirmek için 2013 ve 2014 yıllarına ait preanalitik hatalar Laboratuar Bilgi Sisteminden (LBS) geriye dönük olarak alınmıştır. Preanalitik faz için on kalite indikatörü hesaplanmıştır. İyileştirme yapılmış yıl ile geçmiş yıl karşılaştırılmıştır. Kabul edilemez, minimum, kabul edilebilir ve optimal olmak üzere dört kalite spesifikasyon ölçütü tanımlanmıştır.Bulgular: İyileştirme çalışmalarından sonra tüm preanalitik hata tiplerinde azalma görülmüştür. Kalite indikatörleri spesifikasyon ölçütü olarak değerlendirildiğinde, 2013 yılında QI-14 (taşıma sırasında hasarlanmış örnekler) ve QI-16 (yanlış saklanan örnekler) kabul edilemez, QI-8 (kayıp örnekler) ve QI-12 (yetersiz hacimli örnekler) minimum ve QI-9 (yanlış kaptaki örnekler) kabul edilebilir iken, 2014 yılında tümünün optimal düzeyde olduğu görülmüştür. QI-15 (hatalı etiketlenmiş örnekler) kabul edilebilir iken 2014 yılında kabul edilemez olarak değerlendirilmiştir. QI-10a, b (hemolizli örnekler), 11a (pıhtılı örnekler) ve 13 (yetersiz hacimli örnekler-antikoagülanlı tüplerde) her iki yılda da optimal düzeyde değerlendirilmiştir.Sonuçlar: Preanalitik faz ile ilgili eğitimlerin sürekliliğinin sağlanması ve teknolojik alt yapının güçlendirilmesi bu evrenin kontrolünü sağlayacak temel faktörlerdirBackground and objective: We aimed to investigate the effect of “training about the pre-analytical phase” and “technological arrangements in laboratory information systems (LISs) and tube barcoding system”, on decreasing PEs.Materials and methods: PEs in 2013 and 2014  were obtained from the LIS retrospectively in order to evaluate the effect of improvements. Ten quality indicators (QIs) described for pre-analytical phase were calculated. We compared QIs of the “improved year” with the past year. Four quality specification criteria were defined as “ unacceptable”, “minimum”, “desirable” and “optimum” for each quality indicator.Results: There was a reduction in all types of PEs related to the improvement strategies. When QIs were considered as quality specifications (QSs), QI-14 (number of samples damaged in transport) and QI-16 (samples improperly stored) were “unacceptable”, QI-8 (samples lost-not received) and QI-12 (samples with insufficient sample volume) were “minimum” and QI-9 (samples collected ininappropriate container) was “desirable” in 2013; QI-10a, 10b (samples hemolyzed), 11a (samples clotted) and 13 (samples with inadequate sample-anticoagulant) were all “optimum” in 2 years. Conclusion: It was shown that continuous education on pre-analytical phase and improvements of the technological infrastructures are the main factors that will enable the control of this phase

The relationship between KRAS LCS6 polymorphism and endometrium cancer

The aim of this study was to investigate the relationship between KRAS LCS6 mutation and endometrial cancer (EC). The study included 105 patients who had hysterectomy for benign reasons and 99 EC patients. The patients with Type 1 EC were classified according to histological properties, cancer stage, grade, tumour dimension, myometrial invasion (MMI), lymphovascular invasion (LVI), cytology, and number of positive lymph nodes. KRAS LCS6 mutation was examined in blood samples taken from all patients in both groups. No statistically significant difference was determined between the EC patients and the control group in demographic features. Weight and the Body Mass Index (BMI) values were higher in EC group (p  .05). Despite the higher rate of LCS6 polymorphism incidence in EC patients in this study conducted on a relatively large sample, there was not found to be a statistically significant difference in comparison with the control group. In addition, the presence of LCS6 polymorphism was not determined to have an effect on EC histopathological characteristics.Impact statement What is already known on this subject? Endometrial cancer (EC) is a genital system cancer which is one of the most widespread gynecological cancers seen in the USA and other developed countries, In EC, the most frequently seen gene mutations are PTEN tumour suppressor gene, KRAS, β1 catenin, BCL-2, CTNNB and P53 mutations. KRAS LCS6(let-7 miRNA binding region polymorphism) polymorphism has a worldwide incidence of 5.8% (Chin et al. ).There are studies shown that KRAS LCS6 polymorphism has an effect on developing EC (Lee et al. ), ovarian cancer(Ratner et al. )and endometriosis in women (Grechukhina et al. ). What do the results of this study add? In our study, LCS6 located on KRAS 3’-UTR was found at the rate of 16.2% in Type 1 EC patients. This increase is noticeable when it is considered that the incidence of this polymorphism is 5.8% in the general population. The results of the current study supports the preliminary findings of Lee et al. What are the implications of these findings for clinical practice and/or further research? These new genetic markers could help to develop gene-targeted therapies, identify genetic basis of the disease and the factors that could affect the EC prognosis

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease