University of Medicine, Pharmacy, Science and Technology of Târgu Mureș

PURPOSE:The ERBB4 gene encodes a tyrosine kinase receptor for neuregulins and EGF family members, and plays a crucial role in various neurobiological processes. At present, the phenotypic manifestations of genetic variants that disrupt ERBB4 gene function (null variants) are not well established. METHODS:A search for new patients with null variants in ERBB4 was initiated through an international data-sharing collaboration via GeneMatcher, and by searching the databases Decipher and ClinVar. Diagnosis had been performed using chromosomal microarray analysis, whole-exome sequencing, or whole-genome sequencing. RESULTS:Twenty-four new patients from 13 unrelated families with null variants in ERBB4 were identified. Genetic findings included single- or multiple-exon deletions in eight families, a reciprocal translocation disrupting ERBB4 in one family, and sequence variants in four. Variants arose de novo in four probands, were inherited in eight, and had an unknown inheritance pattern in one. Co-segregation of variants with clinical manifestations was observed within families. The predominant clinical features included neurodevelopmental disorders (intellectual disability, neurodevelopmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder), speech delay, challenging behaviors, hypotonia, psychiatric conditions and seizures. CONCLUSION:This study represents the largest case series of patients with neurological disorders and null variants in the ERBB4 gene. Our findings support haploinsufficiency as the most plausible pathophysiological mechanism underlying ERBB4-related disorders and broaden the spectrum of associated phenotypes. Autism spectrum disorders and psychiatric manifestations have emerged as frequent, previously underrecognized features. Penetrance appears to be high but incomplete, and expressivity is highly variable, with a tendency toward intrafamilial phenotypic conservation.

Phishing emails represent a significant threat to security and privacy, aiming to fraudulently obtain sensitive information through deceptive messages. In recent years, Natural Language Processing and Machine Learning techniques have proven effective in detecting such attacks. This study investigates a hybrid approach that combines Multinomial Naive Bayes with RoBERT-base embeddings for phishing email detection in the Romanian IT domain. The proposed model integrated probabilistic information with contextual representations in order to improve classification performance. Experimental results show that the hybrid model is more robust, maintaining consistent performance across different classes. However, it demonstrates the ability to correctly classify certain emails that are misclassified by Bidirectional Encoder Representations from Transformers (BERT), while also showing a tendency to be more cautious in some cases. These findings suggest that hybrid approaches may offer benefits in specific scenarios, although their performance depends on the quality and quantity of the available data. Finally, the work provides an original and efficient Romanian-language phishing dataset while also demonstrating that the proposed hybrid model performs effectively on it.

The urgent need for sustainable and efficient energy solutions has driven the exploration of hybrid systems that combine multiple renewable energy sources, such as photovoltaics, biomass, wind, etc. This paper explores the integration of PVCase and PVSyst in the smart design and performance evaluation of a 6 MW direct current (DC) hybrid photovoltaic power plant. Emphasizing a data-driven approach, the study presents how the two software tools are used for layout generation, energy yield simulation, and performance estimation during the pre-construction phase. The simulated outputs are compared to real operational data collected post-commissioning via SCADA systems. Analyzing various operating scenarios, key parameters are identified for optimizing system performance and improving responsiveness. There is a growing interest in determining the reasonable allocation capacity for PV and storage to ensure maximum user benefits. This comparative analysis highlights the accuracy, limitations, and advantages of simulation-based planning versus actual performance, with insights into optimization strategies and decision-making in future hybrid system designs.

Over 50% of persons with unresectable stage III non-small cell lung cancer (NSCLC) treated with standard-of-care concurrent chemoradiotherapy (CCRT) and durvalumab consolidation progress or die within 18 months. Here adults with untreated, unresectable stage III NSCLC were randomized to nivolumab plus CCRT followed by consolidation with nivolumab plus ipilimumab (arm A) or nivolumab alone (arm B) or CCRT followed by consolidation with durvalumab (arm C). The primary endpoint was progression-free survival (PFS) in arm A versus arm C and secondary endpoints included overall survival (OS), PFS in arm B versus arm C, response rates and safety. At a median follow-up of 30.5 months, there was no statistically significant difference in the primary endpoint of PFS in the nivolumab plus ipilimumab arm versus durvalumab arm (hazard ratio (HR): 0.95, 96% confidence interval (CI): 0.77-1.19; P = 0.65). Descriptive OS analysis showed no improvement (HR: 1.12, 95% CI: 0.87-1.43). Nivolumab alone did not improve PFS or OS versus durvalumab (PFS, HR: 0.84, 95% CI: 0.69-1.04; OS, HR: 0.97, 95% CI: 0.76-1.24). Nivolumab plus ipilimumab and nivolumab alone plus CCRT resulted in increased pneumonitis. These results emphasize the need for novel efficacious treatments for these individuals. (ClinicalTrials.gov: NCT04026412 ).