Serum L C3-II levels in type 2 diabetic patients with impaired renal functions.

This study was designed to evaluate serum LC3-II, BCL-2, IL-1ß, TGF-ß1, and podocin levels in. type 2 diabetes (T2DM) patients with renal dysfunction. MATERIALS: 176 Turkish subjects were enrolled, of whom 26 were healthy, and 150 had T2DM. PATIENTS: were classified according to albumin urea ratio: 88 patients had macroalbuminuria, 20. patients had microalbuminuria, and 42 had normoalbuminuria. T2DM patients were also. classified into three groups according to proteinuria and eGFR stages. RESULTS: Increased serum LC3-II levels in patients with T2DM with increased urinary albumin. extraction and impaired renal functions. There was a strong relationship between serum. LC3-II levels and serum BCL-2, IL-1ß, TGF-ß1, and Podocin levels. The efficiency of LC3- II as a diagnostic biomarker in the differential diagnosis of DM patients with. macroproteinuria from DM patients with normoproteinuria was 75.4%. CONCLUSIONS: It was thought that increased serum LC3-II levels in T2DM patients with impaired renal. functions may cause renal podocyte damage. In these patients, serum LC3-II levels can be. evaluated as a new biomarker to follow the development of renal damage.

Copeptin: Up-to-date diagnostic and prognostic role highlight.

Arginine Vasopressin (AVP) is one of the key hormones in the human body. AVP is clinically important because it maintains body fluid balance and vascular tone. Unfortunately, AVP laboratory measurements are always difficult and with low accuracy. Copeptin, the C-terminal of the AVP precursor, is released in equal amounts with AVP, making it a sensitive marker of AVP release. Despite being a non-specific biomarker, copeptin earned a lot of attention as a novel biomarker due to easy and quick laboratory measurements. Recent studies have reported the critical role of copeptin as a clinical indicator, especially in the diagnosis and prognosis of many diseases. Besides, it was reported that the combination between copeptin and gold standard biomarkers improved the prognostic values of those biomarkers. In this review, the role of copeptin as a new predictive diagnostic and prognostic biomarker of various diseases is highlighted according to the most recent studies. In addition, the importance of using copeptin as a marker in different medical departments and the impact of this on improving healthcare service was discussed.

ß-Globin Gene Mutations in Pediatric Patients with ß-Thalassemia in the Region of Çukurova, Turkey.

ß-Thalassemia (ß-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of ß-thal at the molecular level in pediatric ß-thal patients in the Çukurova region. The ß-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (HBB: c.93-21G>A) (58.3%), codon 8 (-AA) (HBB: c.25_26delAA) (5.6%), -30 (T>A) (HBB: c.-80T>A) (5.6%), IVS-I-6 (T>C) (HBB: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (HBB: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (HBB: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (HBB: c.93_21del). We determined that the most frequently observed ß-thal mutation in the Çukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences.

Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.

To contribute to the creation of a mutation map of the region, we aimed to determine the mutation spectrum of thalassemias and abnormal hemoglobins (Hbs) in the Çukurova region and surrounding provinces. In this study, a total of 8135 samples from Adana, Hatay, Mersin, Konya and Kayseri provinces between 1993 and 2014 were analyzed. Complete blood cell (CBC) counts and Hb typing were carried out using automatic cell counters, cellulose acetate membrane electrophoresis and high performance liquid chromatography (HPLC), respectively. For the molecular analyses, genomic DNA was extracted using both manual and automated DNA extraction devices. Determination of Hb mutations were done by microarray, restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and gap-polymerase chain reaction (gap-PCR) methodologies. Samples were analyzed for abnormal Hb and thalassemia mutations. Out of 8135 samples, 1382 were observed to be carrying Hb mutations. It was identified that 826 mutation carriers included abnormal Hbs with a frequency of 59.7%, 416 carriers included ß-thalassemia (ß-thal) mutations with a frequency of 30.7% and 136 carriers included α-thalassemia (α-thal) mutations with a frequency of 9.9%. In this study, the most frequently observed abnormal Hb in the region was Hb S [ß6(A3)Glu→Val (GTG > GAG), HBB: c.20T > A], whereas the most commonly observed mutations were the IVS-I-110 (G > A) (HBB: c.93-21G > A) point mutation in ß-thal and the 3.7 kb deletion in α-thal.