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Introduction: Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting. Methods: Ten infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%. Results: Three patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses. Discussion: This study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology.

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In the present work, unilamellar [SrTa2O7]2- perovskite nanosheets with variable lateral dimensions were synthesized via a high-yield, three-step liquid exfoliation route from layered Bi2SrTa2O9. The photocatalytic activity of the parent and exfoliated layered perovskites was evaluated for the photocatalytic dye degradation of Rhodamine B under UV light (254 nm) and reduction of water to H2 under the full solar spectrum. A comparative study of the photocatalytic behavior of unilamellar [SrTa2O7]2- perovskite nanosheets and parent layered structure showed a significant improvement in both hydrogen evolution (98.20 vs 3 µmol g-1) and Rhodamine B degradation time (180 vs 30 min), with the restacked nanosheets. The exfoliation of layered perovskites not only increases their specific surface area, providing more active sites, but also reduces the recombination probability of electrons and holes due to their unilamellar structure and reduced charge transport pathways. The synthesis and preparation of strong acid solids such as [SrTa2O7]2- perovskite nanosheets can be a promising approach for effective adsorption of pollutants with cationic nature and more efficient electron transfer between the dye and catalyst. Finally, the photocatalytic characteristics of the restacked unilamellar [SrTa2O7]2- nanosheets remained unchanged after three successive cycles of recycling-reusing.

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Ultrasonic non-destructive evaluation in pulse-echo mode is used for the inspection of single-lap aluminum adhesive joints, which contain interface defects in bonding area. The aim of the research is to increase the probability of defect detection in addition to ensuring that the defect sizes are accurately estimated. To achieve this, this study explores additional ultrasonic features (not only amplitude) that could provide more accurate information about the quality of the structure and the presence of interface defects. In this work, two types of interface defects, namely inclusions and delaminations, were studied based on the extracted ultrasonic features in order to evaluate the expected feasibility of defect detection and the evaluation of its performance. In addition, an analysis of multiple interface reflections, which have been proved to improve detection in our previous works, was applied along with the extraction of various ultrasonic features, since it can increase the probability of defect detection. The ultrasonic features with the best performance for each defect type were identified and a comparative analysis was carried out, showing that it is more challenging to size inclusion-type defects compared to delaminations. The best performance is observed for the features such as peak-to-peak amplitude, ratio coefficients, absolute energy, absolute time of flight, mean value of the amplitude, standard deviation value, and variation coefficient for both types of defects. The maximum relative error of the defect size compared to the real one for these features is 16.9% for inclusions and 3.6% for delaminations, with minimum errors of 11.4% and 2.2%, respectively. In addition, it was determined that analysis of the data from repetitive reflections from the sample interface, namely, the aluminum-adhesive second and third reflections, that these contribute to an increase in the probability of defect detection.

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Umbilical venous catheterisation is a common bedside procedure in the neonatal intensive care unit (NICU). Complications including thrombus formation, thromboembolism, vessel perforation, haemorrhage, and central line-associated bloodstream infection can be seen after the procedure. Pyogenic liver abscess is a rare but life-threatening complication of umbilical venous catheterisation. A male infant with cyanotic congenital heart disease was admitted to NICU. An umbilical venous catheter (UVC) was inserted. Abdominal X-ray showed an improperly positioned UVC, it was removed and replaced with a newer one. On the seventh day, the infant had abdominal distension and his clinical condition deteriorated. Abdominal ultrasonography (US) revealed a hepatic abscess. US-guided percutaneous abscess drainage was performed. Empiric antibiotic treatment was initiated and culture revealed Staphylococcus. The patient was followed by serial US and the lesion was completely resolved after three weeks. In conclusion, clinical worsening associated with gastrointestinal symptoms in a cyanotic infant with UVC should raise suspicion for liver abscess. Key Words: Neonate, Hepatic abscess, Umbilical venous catheter, Cyanotic heart disease.

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This work aims to compare quantitatively different nondestructive testing (NDT) techniques and data fusion features for the evaluation of adhesive bonding quality. Adhesively bonded composite-epoxy single-lap joints have been investigated with advanced ultrasonic nondestructive testing and induction thermography. Bonded structures with artificial debonding defects in three different case studies have been investigated: debonding with release film inclusion, debonding with brass film-large, debonding with brass film-small. After completing preprocessing of the data for data fusion, the feature matrices, depending on the interface reflection peak-to-peak amplitude and the principal component analysis, have been extracted from ultrasonic and thermography inspection results, respectively. The obtained feature matrices have been used as the source in basic (average, difference, weighted average, Hadamard product) and statistical (Dempster-Shafer rule of combination) data fusion algorithms. The defect detection performances of advanced nondestructive testing techniques, in addition to data fusion algorithms have been evaluated quantitatively by receiver operating characteristics. In conclusion, it is shown that data fusion can increase the detectability of artificial debonding in single-lap joints.