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Abstract Background This study presents an adult 7p21 deletion patient, including a literature review specific to 7p21 deletion, and concludes recommendations toward such patients. A 47-year-old male with moderate-to-severe learning disability and significant dysmorphic features was seen in our Medical Genetics clinic. Initially, a chromosome analysis was requested considering a pre-diagnosis of Down syndrome with adult age, and other chromosomal abnormalities. Results In karyotype analysis, one chromosome 7 was observed to have a deletion on its short arm. Subsequently, single nucleotide polymorphism array (SNP Array) analysis was pursued to confirm the abnormality seen in the chromosome analysis and to elucidate its details. The results indicated a 16-megabase loss in the 7p21.3-p15.3 regions. Conclusions Patients with deletions of the short arm of chromosome 7 may exhibit various phenotypic features, including case-specific anomalies. Common abnormalities often linked to the heterozygous loss of 7p21 include a wide nasal bridge and ear shape abnormalities. Our 47-year-old patient presented with macroglossia and dysmorphic traits, suggesting macroglossia as a potential clinical finding for follow-up in adults. Further research is needed to confirm if all such specific anomalies are due to 7p genetic material loss.

Converging evidence from neuroscience and psychological sciences demonstrates that continuous sensory stimulation within the intensive internet use affects brain functioning on a broad scale. This includes essential memory, and metacognitive functions extend to the healthiness and disorders which are critical for the adaptive behavior and learning processes. This study aims to show the relation between intensive internet use and the responds of the brain in neural and behavioral levels through some working memory attributes and associated metacognitive functions and long-term memory processing. Accordingly, functional magnetic resonance imaging (fMRI) studies suggest that being online intensively has an impact on activation levels in Anterior Cingulate Cortex, Dorsolateral Prefrontal Cortex, Orbitofrontal Cortex, Medial and Medial frontal Gyrus, ventral striatum, and the dynamic connectivity pathways including frontal, medial and parietal networks such as Default Mode Network and Task Network which are important for memory and metacognitive functions. Moreover, intensive internet use habits affect some cognitive skills such as the selection of information cues, manipulation and retention of the information and attentional control; evaluation of one’s present knowledge, and regulation of the learning processes for; encoding, consolidation and retrieval of information for long-term memory processes are the effected features. As a conclusion, intensive internet use has a critical impact on neural processes in modular and whole brain level and could play a strong role for the alteration of memory and metacognitive processes.

Abstract BAG-1 interacts with multiple partners, particularly with c-Raf, and promotes cancer cell survival. Hence, modulating the BAG-1-associated interactions with novel inhibitors could provide benefit for cancer therapy. Using HDX-MS, we first demonstrate the higher-order structure of BAG-1S and identify a potential “druggable” site on its BAG domain. An LC-MS/MS-coupled cell-free binding experiment is then used to map the BAG-1S:c-Raf interface, uncovering a 20-amino acid-length region of BAG-1S that is most likely to interact with c-Raf. Site-directed mutagenesis experiments reveal that K149 and L156 are hot spots for BAG-1S:c-Raf interaction, and their substitutions with alanine attenuate the survival of MCF-7 cells. We then show that a peptide derived from the BAG-1S-interacting c-Raf region hinders BAG domain-associated partners. The peptide, engineered with a cell-penetrating peptide motif, can penetrate cells, and it induces apoptosis in cancer cells. The anticancer activity of the peptide might lead to improved treatments for BAG-1-overexpressed and/or MAPK-driven tumors.

Abstract Background This study aimed to evaluate the effects of different restorative techniques and materials on cuspal deflection and microleakage in MOD restorations. Eight groups were tested using incremental and bulk-fill techniques, with or without fiber reinforcement. The restorative materials included Filtek Z250 and Filtek Bulk-fill Posterior, while reinforcement materials such as Interlig glass fiber, EverX Posterior, and Surefill SDR were incorporated to assess their impact. Methods In total, 96 freshly extracted, sound human maxillary first premolars were selected and stored in 0.1% thymol solution at 37 °C. The teeth were randomly assigned into eight groups (n = 12). Standardized MOD cavities were prepared, followed by endodontic treatment and sealing with glass ionomer cement. The groups were as follows: Group 1—Filtek Z250 applied incrementally in 2-mm layers; Group 2—U-shaped Interlig glass fiber followed by incremental Filtek Z250; Group 3—Filtek Bulk-fill Posterior using the bulk technique; Group 4—U-shaped Interlig glass fiber followed by Filtek Bulk-fill Posterior; Group 5—EverX Posterior followed by incremental Filtek Z250; Group 6—EverX Posterior followed by Filtek Bulk-fill Posterior; Group 7—Surefill SDR followed by incremental Filtek Z250; and Group 8—Surefill SDR followed by Filtek Bulk-fill Posterior. Cuspal deflection was measured using a digital micrometer with 0.05 μm precision. Microleakage was assessed using a 0.5% basic fuchsin dye solution at 37 °C for 24 h, followed by sectioning and examination under magnification. Results The lowest mean cuspal deflection was observed in Group 2 (15.8 μm), while the highest was in Group 5 (27.2 μm). Statistically significant differences were observed in cuspal deflection across the groups and over time (p

Bu çalışmada dörtlü element kompozisyonundan oluşan ve elektro-optik uygulamalarda sıkça kullanılan CIGS ince filmler, aynı anda termal buharlaştırma yöntemiyle üretilmiş, yapısal ve elektriksel özellikleri incelenmiştir. SEM ve AFM sistemleri ile yüzey ve kalınlık analizleri, XRD sistemi ile detaylı yapı ve doku analizleri gerçekleştirilmiştir. SEM ve AFM görüntüleri incelenerek histogram eğrileri ve bunlara bağlı Gaussian teğetleri elde edilmiştir. SEM görüntülerinde film yüzeyinde farklı boyutlarda kümelenmelerin olduğu görülmüş ve histogram grafiği incelenerek bu kümelenmelerin homojen şekilde dağıldığı belirlenmiştir. AFM görüntülerinden ortalama yüzey pürüzlülüğünün 4,94 nm olduğu görülmüştür. AFM görüntülerinden elde edilen histogram grafikleri incelendiğinde de pürüzlülüğe sebep olan yapılanmaların yüzeyde homojen dağıldıkları tespit edilmiştir. Üretilen filmlerin 20˚- 60˚ 2θ aralığında XRD ölçümleri alınmış, filmlerin tetragonal Cu(In0.5Ga0.5)Se2 yapısında ve (112), (204/220) ve (312/116) yönelimlerine sahip olduğu belirlenmiştir. Doku analizleri sonucunda elde edilen kutup figürleri çıkarılmış ve deneysel kutup figürleri ile tekrar hesaplanan teorik kutup figürleri karşılaştırılmıştır. Çalışmanın sonucunda deneysel kutup figürleri ile tekrar hesaplanan teorik kutup figürleri arasındaki benzerlik oranlarının, XRD ölçümlerindeki pik şiddetleri ile orantılı olarak değiştiği tespit edilmiştir. Üretilen CIGS filmine ait kristal yönelimlerinin şiddeti ve film düzlemi boyunca dağılımlarının homojenliği kutup figürlerinin analizi ile çalışılmıştır. Literatürde yüksek verimler elde edilmiş çalışmalardaki kristal yapılar ile kıyaslanarak verimli güneş gözelerini üretmede kullanılabilirliği tespit edilmeye çalışılmıştır. Filmlerin Hall etkisi ölçümleri oda sıcaklığında, 1,1 Tesla manyetik alan altında ve 3 µA akım seviyesinde alınmıştır. Üretilen CIGS ince filmin p tipinde olduğu görülmüş ve sırasıyla öz direnci ve taşıyıcı yoğunluğunun 3,33×102 Ω.cm ve 1,36×1011 cm-3 olduğu hesaplanmıştır.

Objective: The aim of this study was to evaluate the effect of gastric acid on different resin-based composites with surface microhardness, surface roughness and scanning electron microscopy (SEM).Methods: Three different composite resin restorative materials (Clearfil Majesty ES-2{Kuraray, Tokyo, Japan}, Beautifil II {Shofu, Ratingen, Germany}, Group Beautifil II LS {Shofu, Ratingen, Germany}) were used. Vickers microhardness and surface roughness measurements were evaluated at baseline, after 7 and 14 days of soaking in gastric acid. SEM images were obtained to examine the effects of gastric acid on the surface properties of the composites.Results: When the difference in the microhardness values of the composite resins was compared, the time-dependent change in all composites was found to be statistically significant. The most surface roughness and hardness changes occurred in Beautifil II group (P:0.000; P

Abstract Dark-field X-ray microscopy is a lens-based technique that enables real-space imaging of heterogeneous micro- and meso-scale ordered materials. However, achieving accurate three-dimensional (3D) reconstruction often requires meticulous sample alignment or rastering, requiring complex rotational setups and extended acquisition times. To address these challenges, we introduce a structured illumination technique optimized for 3D imaging of ordered materials at sub-micrometer length scales. Our approach employs a coded aperture to spatially modulate the incident X-ray beam, enabling 3D structural reconstruction from images captured at various aperture positions. Unlike current 3D imaging approaches, which often rely on rotational or rastering methods, our technique uses scanning X-ray silhouettes of the coded aperture for depth resolution along the diffraction axis. This eliminates the need for sample rotation or rastering, resulting in a highly stable and efficient imaging modality. We validated the efficacy of this approach through experimental imaging of an isolated twin domain within a bulk single crystal of an iron pnictide using a dark-field X-ray microscope. This advancement aligns with the enhanced brightness upgrades of modern synchrotron radiation facilities, unlocking new possibilities for high-resolution imaging of ordered materials.

OBJECTIVES: Traditional scoring systems have been widely used to predict acute pancreatitis (AP) severity but have limitations in predictive accuracy. This study investigates the use of machine learning (ML) algorithms to improve predictive accuracy in AP. METHODS: A retrospective study was conducted using data from 101 AP patients in a tertiary hospital in Türkiye. Data were preprocessed, and synthetic data were generated with Gaussian noise addition and balanced with the ADASYN algorithm, resulting in 250 cases. Supervised ML models, including random forest (RF) and XGBoost (XGB), were trained, tested, and validated against traditional clinical scores (Ranson’s, modified Glasgow, and BISAP) using area under the curve (AUC), F1 score, and recall. RESULTS: RF outperformed XGB with an AUC of 0.89, F1 score of 0.82, and recall of 0.82. BISAP showed balanced performance (AUC = 0.70, F1 = 0.44, and recall = 0.85), whereas the Glasgow criteria had the highest recall but lower precision (AUC = 0.70, F1 = 0.38, and recall = 0.95). Ranson’s admission criteria were the least effective (AUC = 0.53, F1 = 0.42, and recall = 0.39), probable because it lacked the 48th h features. CONCLUSION: ML models, especially RF, significantly outperform traditional clinical scores in predicting adverse outcomes in AP, suggesting that integrating ML into clinical practice could improve prognostic assessments.

Background: Limited data exist regarding the diagnostic accuracy of synovial fluid leukocyte count (SFLC) in diagnosing periprosthetic shoulder infection (PSI). The main objective of this study was to determine the diagnostic value of leukocyte count at a common threshold of 3 cells/nL and the optimal cut-off value. Methods: Patients who underwent shoulder arthroplasty revision surgery and aspiration with SFLC between 2012 and 2023 were retrospectively included. The International Consensus Meeting 2018 definition was used to characterize infection status for SFLC threshold and synovial fluid neutrophil percentage (SFNP). Sensitivity and specificity were presented using cross tabulation. The area under the curve was calculated, and the optimal cut-off was determined using maximized Youden Index. Results: 35 cases with an average age of 71 years (43% male) were included in our study. At a threshold of 3 cells/nL, SFLC showed a sensitivity of 70% and specificity of 83%. The corresponding positive and negative predictive values (PPV and NPV) were 89% and 59%, respectively. We found the optimal cut-off for our cohort at 4.7 cells/nL, increasing specificity to 92% while maintaining sensitivity at 70% (PPV = 94%, NPV = 61%). SFNP at a cut-off of 80% demonstrated 50% sensitivity and 91% specificity, with corresponding PPV and NPV of 92% and 48%, respectively. The optimum threshold for SFNP was 54%, which had a sensitivity of 77% and a specificity of 64%, as well as a PPV of 81%, and NPV of 58%. The area under the curve was 0.72 for SFLC and 0.74 for SFNP. Sonication detected pathogens in 63% of cases, while 57% of all cases showed positive tissue cultures and 43% positive aspirate cultures. Especially, the most frequently found microorganism, Cutibacterium acnes, was detected less often in aspirate culture. Conclusions: SFLC shows good specificity but moderate sensitivity for diagnosing PSI when using a threshold of 4.7 cells/nL. Therefore, it can serve as a confirmatory test for diagnosing PSI but not for ruling out infection.

Abstract Human papilloma virus-negative head and neck squamous cell carcinoma (HNSCC) frequently harbors 11q13 amplifications. Among the oncogenes at this locus, CCND1 and ANO1 are linked to poor prognosis; however, their individual roles in treatment resistance remain unclear. The impact of Cyclin D1 and Ano1 overexpression on survival was analyzed using the TCGA HNSCC dataset and a Charité cohort treated with cisplatin (CDDP)-based radiochemotherapy. High Ano1 expression was primarily associated with poor overall survival in both datasets. The effects of CCND1 and ANO1 knockdown (KD) on radio- and drug sensitivity, along with changes in global protein expression, cell viability, growth, and DNA repair, were studied in an 11q13-amplified HNSCC cell line model of primary cisplatin resistance. Unique pathway alterations– VEGF in CCND1 KD and the Rho GTPase cycle in ANO1 KD– were observed, along with shared changes like DNA damage and cell cycle dysregulation. Silencing CCND1 or ANO1 increased CDDP sensitivity, while only ANO1 silencing increased radiosensitivity. Copanlisib and afatinib were identified as promising candidates for combination therapy of 11q13-amplified HNSCC tumors. We demonstrated a predominant role for Ano1 in treatment resistance in Cyclin D1highAno1high HNSCC tumors and identified novel potential treatment combinations for this high-risk patient group.

To constitute awareness of climate change, hearing the solutions of students in their words and seeing visual products by creating experiences in schools is vital. This case study was limited to sequential implementations of climate change in the natural sciences teaching process in 5th grade. After an education process on using Pixton, 12 students transformed their learning into digital comics. This research aimed to reveal the problems created by students through digital stories about climate change, solutions they suggested for climate problems, and aesthetic subtleties they applied to express themselves. Digital comics created by students, researcher notes, observations, and students' view forms were used as data collection tools. Finally, vital solutions to problems such as global climate change, pollution, destruction of the natural environment, and extinction of living creatures were created by students during this case. Important solutions consisting of preventing global warming, making peace with nature, vital measures and efforts to protect the soil were suggested. Besides, interesting aesthetic subtleties such as storification, positioning of the characters, place preferences, expression of emotions, and time depiction were applied. Teachers can use comics to see students' tendencies, raise awareness, encourage them, and help them develop solutions for current socioscientific problems.

Abstract: Optically active quantum defects play an important role in quantum sensing, computing and communication. The electronic structure and the single-particle energy levels of these quantum defects in the semiconducting host have been used to understand their optoelectronic properties. Optical excitations that are central for their initialization and readout are linked to transitions between occupied and unoccupied single-particle states. It is commonly assumed that only quantum defects introducing levels well within the band gap and far from the band edges are of interest for quantum technologies as they mimic an isolated atom embedded in the host. In this perspective, we contradict this common assumption and show that optically active defects with energy levels close to the band edges can display similar properties. We highlight quantum defects that are excited through transitions to or from a band-like level (bound exciton) such as the T center and Se S i + in silicon. We also present how defects such as the silicon split-vacancy in diamond can involve transitions between localized levels that are above the conduction band or below the valence band. Loosening the commonly assumed requirement on the electronic structure of quantum defects offers opportunities in quantum defects design and discovery especially in smaller band gap hosts such as silicon. We discuss the challenges in terms of operating temperature for photoluminescence or radiative lifetime in this regime. We also highlight how these alternative type of defects bring their own needs in terms of theoretical developments and fundamental understanding. This perspective clarifies the electronic structure requirement for quantum defects and will facilitate the identification and design of new color centers for quantum applications especially driven by first principles computations.

Silicon is the ideal material for building electronic and photonic circuits at scale. Integrated photonic quantum technologies in silicon offer a promising path to scaling by leveraging advanced semiconductor manufacturing and integration capabilities. However, the lack of deterministic quantum light sources and strong photon-photon interactions in silicon poses a challenge to scalability. In this work, we demonstrate an indistinguishable photon source in silicon photonics based on an artificial atom. We show that a G center in a silicon waveguide can generate high-purity telecom-band single photons. We perform high-resolution spectroscopy and time-delayed two-photon interference to demonstrate the indistinguishability of single photons emitted from a G center in a silicon waveguide. Our results show that artificial atoms in silicon photonics can source single photons suitable for photonic quantum networks and processors.