Erciyes University - AVESIS
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First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome
No full textRas-responsive element binding protein 1 (RREB1) is a zinc finger transcription factor that is crucial in regulating cell growth, gene expression, and DNA repair. It functions as both a repressor and an activator, with its activity controlled by the MAPK signaling pathway. RREB1 has been implicated in various conditions such as type 2 diabetes (T2D), obesity, and cancer, suggesting its potential as both a biomarker and a therapeutic target for these diseases. While several cases of 6p terminal deletions in the RREB1 gene and one case of Noonan-like RASopathy due to a loss-of-function variant have been reported, this study presents the first case of a pathogenic loss-of-function variant in RREB1 associated with morbid obesity and metabolic disturbances. Our patient, a 16-year-old male, exhibited morbid obesity, metabolic disorders, moderate intellectual disability, and atypical autism symptoms. He was referred to our clinic by the pediatric endocrinology department for genetic evaluation. Initial genetic testing included karyotype analysis and SNP array testing with 700 000 probes. Whole exome sequencing (WES) was then performed on the patient and his family, revealing a de novo novel variant, c.3178_3179del, p.(Glu1060Argfs*37) in the RREB1 gene, which was confirmed by Sanger sequencing. This novel variant underscores the critical role of RREB1 in regulating metabolic processes, particularly obesity. Additionally, the patient's neurodevelopmental delay aligns with previously reported findings of RREB1 loss-of-function variants. These results highlight the need for further research to fully understand the metabolic implications of RREB1 gene loss, with this study providing valuable insights for future investigations
HfO2 barrier layers: Thickness-dependent corrosion protection of copper thin films for potential microelectronic applications with sweat contact
No full textCopper conductive thin films or components in microelectronic devices face significant corrosion challenges that compromise long-term reliability. This study presents a comprehensive investigation of hafnium dioxide (HfO2) as a protective barrier layer deposited by RF magnetron sputtering at varying thicknesses (150 and 300 nm) on copper substrates for possible microelectronic applications. Multi-technique characterization methods, including SEM-EDX, AFM, XRD, FTIR, UV-Vis spectroscopy, contact angle measurements, potentiodynamic polarization, and electrochemical impedance spectroscopy (EIS), were employed to establish structure, property, and performance relationships. EDX results show that the addition of an HfO2 layer significantly modified the surface morphology, especially on presence of 300 nm HfO2 layer, so that the surface appears continuous and uniform. This is also supported by the FTIR analysis results, which indicate the presence of the strongest Hf-O and Hf-OHf vibrational bonds, thereby confirming the formation of an HfO2 layer on the Cu surface. AFM results show an increase in surface topography roughness, caused by island-type growth (Volmer-Weber), as the thickness of the HfO2 layer increases. The XRD results for un-coated sample shows sharp and clear diffraction peaks and indicates face-centered cubic (FCC) phase pattern of pure Cu nanoparticles. When the HfO2 layer added Cu layer, XRD pattern shows the formation of a broad hump in the range of 2 theta approximate to 28 degrees-35 degrees and HfO2 layer formed is in the amorphous state. These results are correlated with the contact angle test results. UV-Vis results show that 300 nm HfO2 coted films has the highest transmittance value across the entire wavelength range, as well as the lowest absorbance value. The 300 nm HfO2 coating demonstrated optimal corrosion protection with 21.2 % reduction in corrosion current density (from 11.3 to 8.89 mu A/cm2) and 29 % increase in polarization resistance (from 1.45 to 1.87 k Omega cm2) in artificial sweat environment. Finally, surface wettability studies revealed that increased hydrophobicity (contact angle:49.13 degrees to 57.99 degrees) was correlated with enhanced corrosion barrier performance. These findings establish RF-sputtered HfO2 as a viable, scalable solution for copper protection in next-generation microelectronic and wearable biosensor applications
Naples Score: A Novel Predictor of Infrapopliteal Artery Disease Severity and Complexity
No full textBackground Peripheral artery disease (PAD), particularly infrapopliteal lesions, represents a severe form of atherosclerotic vascular disease. The Naples prognostic score (NPS), which reflects systemic inflammation and nutritional status, has emerged as a potential predictor of cardiovascular outcomes. This study investigates the association between the NPS and the severity of infrapopliteal artery disease, as classified by the Trans-Atlantic Inter-Society Consensus II (TASC II) system. Methods We retrospectively analyzed data from 282 patients with infrapopliteal lesions who underwent peripheral angiography. Patients were grouped by TASC II classification (A–B versus C–D). The NPS was calculated using serum albumin, total cholesterol, neutrophil-to-lymphocyte ratio, and lymphocyte-to-monocyte ratio. Statistical analysis included receiver operating characteristic (ROC) curve and logistic regression. Results NPS values were significantly higher in patients with TASC C-D lesions than those with TASC A-B lesions (2.5 ± 0.92 vs. 1.49 ± 0.98, P < 0.001). ROC analysis showed the NPS had the highest predictive value for disease severity (area under the curve: 0.77). Multivariate analysis identified NPS as an independent predictor of complex lesion presence. Conclusion The NPS is a robust and independent marker for predicting the severity and complexity of infrapopliteal PAD. Its ease of calculation and cost-effectiveness make it a valuable tool for clinical risk stratification
Qualitative dynamics and solitary wave phenomena in a new extended Boussinesq-Type KdV equation
No full textSAĞLIKLI GENÇ YETİŞKİNLERDE DİYETİN FİTOKİMYASAL İÇERİĞİ İLE DİYABET RİSKİ VE KARDİYOMETABOLİK RİSK ARASINDAKİ İLİŞKİ
No full textDirectorate of High Technics Board Decisions in Public Construction Projects: A Machine Learning Approach to Dispute Resolution
No full textNovel Schiff’s and N-Mannich base derivatives of isatin: Synthesis, spectroscopic characterization, molecular docking, dft studies, in vitro cholinesterase enzyme inhibition and antioxidant properties
No full textIn the present study synthesis, characterization and antioxidant activities of new eight Schiff’s and N-Mannich bases of isatin derivatives with different substituents at the C-5 position of (3a-3h) were researched. DPPH (α,α-diphenyl-β-picrylhydrazyl) free radical scavenging and FRAP (Ferric Reducing Antioxidant Power) methods were applied for in vitro antioxidant activities of the compounds. DPPH antioxidant analysis revealed that compounds 3f (5-Cl derivative) and 3h (5-Br derivative) had the highest antioxidant capacity. In terms of FRAP antioxidant activity, compound 3f was found to have the highest antioxidant activity. Additionally, cholinesterase enzyme inhibition activity studies were conducted. Among the 8 isatin derivatives synthesized in this study, selectivity was observed for butyrylcholinesterase (BChE) inhibition by compound 3c. The most potent inhibitor of BChE was 3c (IC50=61.340 μΜ). Acetylcholinesterase (AChE) inhibitory activity was not observed for any compound. Chemical characterizations of the compounds were verified by 1D and 2D NMR techniques and mass analysis. Quantum mechanical calculations were performed at B3LYP/6–31G++ (2d,2p) level with density functional theory (DFT) calculations at the Gaussian 09 W package program and in silico evaluation of absorption, distribution, metabolism, excretion, and toxicity (ADMET) features and toxicity profile of molecules have been researched. Molecular docking analysis were performed against PDB ID: 1HD2 and PDB ID: 4BDS for all compounds. Experimental studies revealed that compound 3b, which exhibited the highest butyrylcholinesterase enzyme inhibition, had the highest binding energy (-10.4 kcal/mol) to the 4BDS receptor based on molecular docking analysis. Compounds 3f (-7.4 kcal/mol) and 3 h (-7.3 kcal/mol), which were found to have high antioxidant properties in experimental results, showed the highest binding energy to the 1HD2 receptor based on molecular docking analysis. All molecules satisfied Lipinski's "rule of five" criterion and their drug-like properties were confirmed.</p
Hospital-Acquired Insomnia in Hospitalized Individuals in Internal Medicine Wards: Effects of Admission Reason, Ward Location, and Dependency Status
No full textEvaluating the Impact of Distance Metrics on K-means Clustering Performance with Geospatial Data
No full textClustering algorithms are fundamental in data mining, machine learning, and statistical analysis, with K-means being one of the most popular due to its simplicity and efficiency. This study examines the impact of using different distance metrics (Euclidean and Vincenty) on the performance of the K-means clustering algorithm when applied to geographical data. While Euclidean distance is widely used for its straightforward computation, it may not be ideal for clustering geographical locations due to the Earth’s curvature. Vincenty’s formula, which accounts for the Earth’s ellipsoid shape, offers a potentially more accurate alternative. We conducted experiments using a dataset of 69,902 geographical points, evaluating the clustering performance based on Sum of Squared Errors (SSE), Davies-Bouldin Index (DBI), and Silhouette Index. Our results indicate that although Vincenty’s formula theoretically provides more precise distance measurements depending on the earth shape, the practical differences in clustering performance between Euclidean and Vincenty distances are minimal. Statistical analysis using the Mann–Whitney U test demonstrated that the observed differences lacked statistical significance
Copper-chitosan modified with Graphene oxide adsorbent for dispersive micro solid phase extraction of traces nickel from water and food samples
No full textThe current study presents a new insight into separation of Ni (II) by preconcentration method from water and food samples prior to atomic flame absorption spectrometry analysis. A Cu-chitosan modified Graphene oxide adsorbent was used for micro-solid phase extraction of Ni (II). The synthesized nanocomposite was subjected to characterization by FTIR (Fourier transform infrared spectroscopy), XRD (X-ray diffraction), FESEM (Field emission scanning electron microscope), SEM-EDX (Scanning electron microscopy-energy dispersive X-ray analysis), TGA (thermogravimetric analysis) and BET (Brunauer-Emmett-Teller) analysis to confirm the qualitative characteristics of the material prior to extraction process. Crucial analytical parameters such as pH, adsorbent dosage, adsorption studies and sample volume were investigated and optimized. The quantitative recoveries (95 %) and relative standard deviation below 5 % were obtained. The Limit of detection (LOD) and Limit of quantification (LOQ) were 0.072 mg kg−1 and 0.239 mg kg−1 respectively. To determine the greenness of the process two analytical parameters were tested, namely, analytical GREENness and AGREEprep, resulting in 0.73 and 0.70 respective grades. The proposed method presents a moderate eco-friendly and facile process. The preconcentration factor obtained for Ni (II) was 40. To validate the effectiveness of this work, the dµ-SPE method was applied to two different standard reference materials, BCR-701 lake sediment (Belgium) and TMDA-54–6 (Canada) certified water reference material