Search Results (129)

This work reports the colloidal synthesis of Nd-containing mixed-halide perovskite quantum dots described as CsPb(Nd)Br_3−γCl_γ, followed by post-synthetic surface modification with an acid-activated amino-functional siloxane. This notation is used deliberately because the available FE-SEM, DLS, EDX, and optical data confirm the formation of an Nd-containing mixed-halide colloidal perovskite system, but do not provide direct crystallographic proof of substitutional Nd³⁺ incorporation at the Pb²⁺ B-site. The obtained dispersions show stable blue emission with a maximum at about 458 nm, a photoluminescence quantum yield of about 56%, an essentially invariant emission maximum when the excitation wavelength is varied from 300 to 390 nm, and monoexponential decay kinetics with a characteristic lifetime of 6.67 ± 0.97 ns. Field-emission scanning electron microscopy combined with morphometric analysis of at least 150 particles indicates a nanoscale size distribution with an average equivalent diameter of 8.8 nm, a median of 7.3 nm, and 93.25% of particles smaller than 25 nm. Dynamic light scattering confirms a narrow hydrodynamic size distribution in the 7–9 nm range and a low polydispersity index. Elemental mapping by EDX confirms the co-presence of Cs, Pb, Br, Cl, and Nd in the analyzed particles. The observed blue shift is discussed in terms of the combined effect of chloride incorporation, nanoscale size, possible Nd-related perturbation of the local electronic/defect structure, and reduced non-radiative losses after surface passivation. No definitive crystallographic assignment of Nd to a specific lattice site is claimed; the composition is therefore treated as nominal, and the structural interpretation remains provisional pending XRD/XPS or related studies. Full article

The article deals with the study of stress corrosion cracking (SCC) of X70 steel using corrosion-mechanical testing that simulates the operating conditions of underground pipelines. The tests were carried out under cyclic four-point bending at stresses close to the yield point, in electrolytes with various hydrogen charging capacities. The following model environments were used: NS4 solution and citrate buffer (pH 5.5). Hydrogen charging was controlled by the addition of thiourea and by varying the potential. It was shown that microcracks initiated at corrosion defects (pits) and then emerged at the surface to form narrow cracks. The incubation period depends on the environment: under corrosive conditions it is approximately two times shorter than in the air. The size and nature of stress concentrators play a significant role: natural pits (~hundreds of μm) lead to crack formation within 24–28 days, whereas artificial holes (0.6–1 mm) lead to crack formation within 5–7 days. The effect of hydrogen was established: the acceleration is insignificant under moderate hydrogen charging, whereas the incubation period decreases sharply at high hydrogen charging. Critical hydrogen concentrations where its effect becomes significant were determined. Methods for inhibiting stress corrosion cracking by means of organosilicon films (vinyl- and aminosilanes, as well as their mixtures with inhibitors—benzotriazole and amines) were considered. The most effective composition is vinylsilane + benzotriazole: the time to crack initiation increases from 5 to 36 days, and the crack growth rate decreases. Full article

Noonan syndrome (NS) is a paradigmatic rare, genetically heterogeneous, multisystem disorder belonging to the RASopathies family, caused by dysregulated RAS/MAPK signaling. It is characterized by distinctive craniofacial features, postnatal short stature, and a high prevalence of congenital cardiac defects, with pulmonary valve stenosis (PS) and hypertrophic cardiomyopathy (HCM) being the hallmark lesions. First described by Dr. Jacqueline Noonan in 1968, the molecular era began with the discovery of PTPN11 mutations in 2001, revolutionizing diagnosis, risk stratification, and understanding of pathogenesis. Strong genotype–phenotype correlations now guide prognosis and personalized management; for instance, RAF1 and RIT1 variants confer a high risk of severe, early-onset HCM, while PTPN11 is strongly linked to dysplastic PS. Cardiac involvement remains the central determinant of long-term outcomes, requiring continuous surveillance from the prenatal period through adulthood. Management is inherently multidisciplinary, addressing endocrine, hematologic, neurodevelopmental, and oncologic aspects. Recent consensus statements emphasize the critical need for structured transition from pediatric to adult care. Novelty arises from the potential of MEK inhibitors as targeted therapies for severe HCM and lymphatic complications. This review provides a comprehensive update on NS, integrating foundational clinical knowledge with contemporary molecular insights, advanced cardiologic management, and emerging frontiers in therapy and diagnostics, underscoring the necessity of a proactive, lifelong, and personalized care approach. Full article

Spi-1 Proto-Oncogene (SPI1) encodes Purine-rich box 1 Transcription Factor (PU.1), a transcription factor of the ETS family that regulates hematopoietic lineage commitment and immune cell differentiation. Alteration of PU.1 dose or ETS domain integrity may interfere with transcriptional programs, which adds to hematopoietic dysregulation and leukemogenesis. Even though changes in SPI1 expression have been associated with acute myeloid leukemia (AML), the structural and regulatory effects of missense mutations at the PU.1 ETS domain have not been entirely studied, and targeting the PU.1 ETS domain by ligands is an area of computational analysis that should be further pursued. To computationally describe deleterious missense variants of SPI1 in terms of structural stability, evolutionary conservation, post-translational modification (PTM) context and interaction networks, and to measure ADMET-mediated molecular docking of cinnamic acid with the PU.1 ETS domain (8EQG) as a potential modulator. Missense nsSNPs were obtained through Ensembl and narrowed down by consensus prediction of pathogenicity (PredictSNP, combining SIFT, PolyPhen, SNAP and PhD-SNP and other tools). InterPro/UniProt was used for domain mapping. SWISS-MODEL was used to produce wild-type and mutant PU.1 versions, which were analyzed on the structural alignment and Cα–Cα displacement parameters in UCSF Chimera (v1.19). The estimation of stability change was carried out with I-Mutant and MUpro. Prediction of PTM sites was done using MusiteDeep and exploration of functional partners was done using STRING. Human, mouse and zebrafish orthologue conservation was measured by means of MAFFT alignment. GEPIA2 was used to compare the expression of SPI1 in AML (TCGA-LAML) and normal tissues (GTEx). AutoDock Vina (grid center 6, −2, −9 A; 20 × 20 × 20 A; 16 exhaustiveness) was used to prepare cinnamic acid and dock it into the PU.1 ETS domain (8EQG), with SwissDock being used for consistency checks. SwissADME and ADMETlab 2.0 were used to predict drug-likeness, pharmacokinetics, and toxicity. Nine missense mutations were routinely considered as deleterious with the majority of them being located in or near the ETS DNA-binding domain. Structural comparisons showed local perturbations of the structure and I189F and H211P yielded the greatest conformational changes between prioritized variants whereas other forms had minimal movements. A predominantly destabilizing trend was supported by stability prediction whereby V241G had the strongest destabilization signal with further destabilizations being predicted in I189F and R259C. PTM mapping revealed several potential regulatory residues (phosphorylation, acetylation, ubiquitination, and methylation), which indicated that there could be crosstalk between the sequence variation and the transcriptional regulation. The SPI1 was placed in a central hematopoietic transcriptional module (containing RUNX1, CEBP members, GATA1 and IRF factors) by the STRING network. The cross-species alignment showed that there was high conservation of a number of the mutation sites, which would support functional constraint at the ETS region. The expression analysis revealed that the level of SPI1 mRNA in AML was significantly elevated compared to normal tissues. Docking also indicated a slight and reproducible interaction of cinnamic acid with the ETS domain (top affinity −4.27 kcal/mol), with a solitary leading polar anchor and supportive hydrophobic interactions, which is akin to interaction between fragments. The ADMET profiling revealed the likelihood of success in the oral drug-likeness and low CYP inhibition liability, as well as signifying the presence of a possible hepatotoxicity signal that needs further confirmation through experiments. Comprehensive computational studies suggest that certain pathogenic variants of SPI1 missense defects, especially in the ETS domain, can result in loss of PU.1 structural stability and regulatory environment, which are in line with the disturbed hematopoietic regulation and AML-related dysregulation. Cinnamic acid demonstrates moderate yet reproducible binding to the PU.1 ETS domain and has an overall favorable developability profile, which indicates that it is better considered as a starting scaffold, as opposed to an active inhibitor. The results give a logical basis of focused biochemical validation and structure-directed optimization of ETS domain modulators in hematologic disease settings. Full article

Background: RASopathies represent a clinically and genetically diverse group of syndromes resulting from germline mutations in genes regulating the RAS/mitogen-activated protein kinase (MAPK) signaling cascade. Methods: The aim of this study was to describe the clinical features and genetic variants identified in patients with genetically confirmed Noonan syndrome (NS) in a limited cohort from Romania. A total of 25 patients with positive genetic testing for NS-associated genes were included. Genetic testing was performed primarily using next-generation sequencing. Results: A total of twenty-six variants were identified in twenty-five patients, as one patient carried two pathogenic variants in the PTPN11 gene (c.188A>G and c.922A>G). Of these variants, twenty-four (92.31%) were classified as pathogenic and two (7.69%) as variants of uncertain significance (VUS). Pathogenic variants were found in different genes, including PTPN11, LZTR1, SOS1, and RAF1, with PTPN11 being the most frequently affected gene. Males predominated (17/25), with a male-to-female ratio of approximately 2:1. Two patients inherited the pathogenic variant from an affected parent. Cardiovascular involvement was present in 21 patients (84%), with pulmonary valve stenosis (PVS) being the most common finding (48%), followed by hypertrophic cardiomyopathy (16%). Additional cardiac anomalies included atrial septal defect, valvular regurgitation, dysplastic valves, coarctation of the aorta, and sinotubular junction narrowing. Short stature was observed in 64% of patients, and craniofacial dysmorphism was present in 96%. Cutaneous, ectodermal, dental, ophthalmologic, and auditory manifestations were variably observed. Conclusions: Although based on a limited cohort from Romania, this study provides insights into clinical features suggestive of NS. Our findings highlight the genetic heterogeneity of NS and emphasize the importance of comprehensive genetic testing for confirming diagnosis, guiding clinical management, and supporting family counseling. Full article

Ultrasonic testing is a prevalent method for non-destructive evaluation of railway rails; however, conventional Time-of-Flight (ToF) approaches applied in practical dry-coupled inspections often rely on simplified assumptions regarding wave propagation velocity and neglect complex waveform characteristics. This paper presents a robust depth estimation framework for surface-breaking cracks that enhances sizing accuracy through effective velocity calibration and Hilbert envelope extraction. Unlike standard methods that assume the free-space speed of sound in air (343 m/s) for wave propagation within the air-filled gap of a surface-breaking crack, we propose an effective velocity model derived from in situ calibration to account for the boundary layer viscosity and thermal conduction effects within narrow crack geometries. The signal processing chain incorporates spectral analysis, band-pass filtering, and Hilbert Transform-based envelope detection to mitigate noise and resolve phase ambiguities. Experimental validation on steel specimens with controlled defects (0.2–10.0 mm) demonstrates that the proposed method achieves an exceptional linear correlation (R² ≈ 0.9976). The calibrated effective velocity was determined to be 289.3 m/s, approximately 15.6% lower than the speed of sound in air, confirming the significant influence of confinement effects. Furthermore, excitation parameters were optimized, identifying that high-voltage excitation (≥110 V) and a tuned pulse width (≈150 ns) are critical for maximizing the signal-to-noise ratio. The results confirm that combining physical model calibration with advanced signal analysis significantly reduces systematic errors, paving the way for portable, high-precision rail inspection systems. Full article

The partial discharge (PD) caused by insulation defects of gas-insulated switchgear (GIS) threatens the secure and stable operation of power systems. Traditional PD pattern recognition methods exhibit limitations due to incomplete information utilization and unresolved correlations among characteristic parameters. Based on the partial discharge mechanisms of GIS, this paper establishes a GIS partial discharge simulation model using the finite element time-domain (FETD) method. The propagation rules and influence factors of ultra-high-frequency (UHF) signals are studied. Furthermore, a PD pattern recognition method based on a deep convolutional neural network (CNN) is proposed. Research results indicate that UHF signals generated by GIS partial discharge are significantly influenced by pulse current waveforms and discharge quantity. The peak-to-peak amplitude of the electric field (Epp) increases linearly with the current amplitude, while it decreases nonlinearly with increasing pulse width. The UHF signal remains a certain value while the pulse width exceeds a critical threshold (4 ns). The proposed CNN-based approach, utilizing full-wave UHF signals, overcomes the shortcomings of traditional methods reliant on manually extracted discrete feature parameters. Compared to other network architectures and optimization algorithms, the ConvNeXt-AdamW model demonstrates superior performance, achieving an average PD pattern recognition accuracy exceeding 96%. Full article

Cryogenic CMOS technology provides a promising approach to surpass the Boltzmann limit and advance Moore’s Law, addressing the increasing demand for high-performance computing. However, at cryogenic temperatures, the subthreshold swing (SS) of the device saturates due to the band-tail effect. This study presents a 3-vertically stacked gate-all-around nanosheet (NS) transistor featuring room-temperature O radical interface passivation. This approach leverages the high reactivity of O radicals to minimize etch-induced damage, passivate interface defects, reduce thermal budget, and ensure uniformity in complex 3D structures. Structural characterization revealed a uniform 0.76-nm-thick interface layer, with a surface roughness of 0.103 nm and an interface trap density of 2.72 × 10¹¹ cm⁻²·eV⁻¹ at 300 K. Thereby, the band-tail-induced SS saturation at cryogenic temperatures is effectively mitigated. Experimental results confirm a lower characteristic temperature T_v for reaching the saturation plateau, and a saturated SS of 15.4 mV/dec at 4.5 K. Furthermore, reducing disorder-induced defects substantially suppresses the band tail state-assisted carrier emission, thereby minimizing subthreshold leakage. This enables the device to achieve an off-state current below 1 pA/μm at a temperature under 77 K, reaching 0.18 pA/μm at 4.5 K. Additionally, a reduction in 25.4% in drain-induced barrier lowering (DIBL), with a 9% boost in transconductance (G_m) peak is achieved at 4.5 K. The enhanced subthreshold switching, reduced leakage, and improved G_m in this interfacial-optimized NS FET strongly supports cryo-CMOS as a viable solution for energy-efficient computing. Full article

The significant disparity between the size and electronegativity of N and group-V (P, As, Sb) atoms in dilute III–V-Ns remains a cornerstone for developing the next-generation electronics. Variations in the structural, optical, and phonon properties of the quaternary GaAs_1−x−ySb_yN_x alloys are being used for improving the high-performance photovoltaic energy and optoelectronic technologies. Bandgap ${\mathrm{E}}_{\mathrm{g}}$ tunability has assisted efficient light emission/detection to cover the crucial optical fiber wavelengths for the low-cost integrated chips in data communications and sensing devices. The lattice dynamical properties of these materials are critical for assessing the reliability to evaluate the performance of long-wavelength lasers, photodetectors, and multi-junction solar cells. Our systematic Raman measurements on high-quality MBE grown $\mathrm{G}\mathrm{a}{\mathrm{A}\mathrm{s}}_{0.946}{\mathrm{S}\mathrm{b}}_{0.032}{\mathrm{N}}_{0.022}$/GaAs samples have detected ${\mathsf{\omega }}_{\mathrm{T}\mathrm{O}\left(\mathsf{\Gamma }\right)}^{\mathrm{G}\mathrm{a}\mathrm{A}\mathrm{s}}$ and ${\mathsf{\omega }}_{\mathrm{T}\mathrm{O}\left(\mathsf{\Gamma }\right)}^{\mathrm{G}\mathrm{a}\mathrm{A}\mathrm{s}}$ phonons along with a high frequency N_As local mode near ~476 cm⁻¹. Weak phonon structures on both sides of the broad 476 cm⁻¹ band are interpreted forming a complex N_As–Ga–Sb_As defect center. Using a realistic rigid-ion model in the Green’s function framework, the simulations of impurity modes for isolated and complex defects have provided corroboration to the experimental data. Full article

Given the rising global demand for environmentally sustainable energy sources, solar photovoltaic (PV) power generation has emerged as a pivotal component of the energy transition. In PV systems, power conversion efficiency is degraded and operational lifespan reduced due to the presence of defective modules. Consequently, achieving accurate and efficient defect detection during PV module manufacturing is critical to ensuring product quality and reliability. To address this challenge, we propose MambaVSS-YOLOv11n, an electroluminescence (EL) image-based multi-defect detection method for PV modules. Our study utilizes a dataset containing six types of defects—Broken Gate, Cold Solder Joint, Black Spot, Scratch, Microcrack, and Suction Mark—to construct 692 labeled EL images of defective PV modules. The model integrates the Vision State Space (VSS) module from Mamba and optimizes the C3k2 Bottleneck structure to enhance fine-grained feature extraction, while employing Space-to-Depth Convolutional (SPD-Conv) Layer for downsampling to improve computational efficiency. Additionally, to address YOLOv11n’s limited generalization capability for small objects and complex backgrounds, we adopt the Inner Mask Distance Penalized Intersection over the Union (Inner-MDPIoU) loss function, which enhances detection accuracy and mitigates the impact of low-quality samples. Experimental results demonstrate that compared to YOLOv11n, MambaVSS-YOLOv11n reduces the number of parameters by 18.1%, while improving mAP@0.5 to 0.869 and mAP@0.5:0.95 to 0.637. This achieves model lightweighting while enhancing detection performance. These findings indicate that the model is well-suited for real-time defect detection in PV module production lines, providing PV manufacturers with a lightweight yet accurate and reliable solution for PV module defect inspection. Full article

Interfacial coupling between CoFe₂O₄ (CFO) nanoparticles and oxidatively functionalized multi-walled carbon nanotubes (MWCNTs) enables controlled modulation of structural, optical, and spin dynamic properties in CFO–MWCNT nanocomposites. The solvothermal synthesis promotes nucleation of CFO on –COOH/–OH functional groups, ensuring uniform anchoring along the nanotube surface. X-ray diffraction confirms a cubic spinel phase with lattice expansion from 8.385 Å to 8.410 Å and crystallite growth from 18 nm to 25 nm, reflecting strain transfer and partial nanoparticle coalescence at the carbon interface. The observed bandgap narrowing from 2.72 eV to 2.50 eV, confirmed via Tauc plot analysis, is attributed to localized defect states induced by charge delocalization and orbital hybridization at the interface of the CFO–MWCNT boundary. DC magnetometry reveals a reduction in saturation magnetization from 46 emu/g to 35 emu/g due to diamagnetic dilution and interfacial spin canting, while coercivity decreases from 852 Oe to 841 Oe, indicating modified pinning and domain-wall dynamics associated with exchange-coupled interfaces. Ferromagnetic resonance measurements show a resonance field shift from 3495 G to 3500 G and an increase in the Landé g-factor from 1.97 to 2.00, signifying altered spin–orbit coupling and enhanced local magnetic perturbations. The spin–lattice relaxation time increases from 1.41 ns to 1.59 ns, demonstrating suppressed phonon-mediated relaxation and improved spin coherence across the hybrid network. Spin density rises from 3.72 × 10²² to 4.58 × 10²² spins/g, confirming an increase in unpaired electrons generated by orbital asymmetry at the interface. The anisotropy field and effective magnetocrystalline anisotropy constant exhibit pronounced modulation, evidencing strengthened exchange stiffness and altered Co²⁺/Fe³⁺ superexchange pathways. These results establish CFO-MWCNT nanocomposites as tuneable platforms for spintronic logic elements, high-frequency microwave attenuation, and magneto-optical device architectures. Full article

Perovskite quantum dots (PQDs) based on CsPbX₃ (X = Cl, Br, I) have attracted extensive attention due to their outstanding optoelectronic properties; however, their practical applications are hindered by poor environmental stability. In this work, a sequential surface-modification strategy is developed to address these limitations. First, CsPbBr₃ PQDs are passivated with (3-aminopropyl) triethoxysilane (APTES), which reduces surface defects and enhances the photoluminescence quantum yield (PLQY) from 38.5% to 74.4%. Subsequently, a dense silica shell is constructed via in situ hydrolysis of tetramethyl orthosilicate (TMOS), further improving the PLQY to 95.6% and significantly boosting environmental stability. Structural and optical characterizations confirm effective defect passivation and suppress non-radiative recombination, with carrier lifetimes extended from 2.5 ns to 36.9 ns. Remarkably, the silica-coated PQDs retain over 50% of their initial emission intensity after 100 min of water immersion, far exceeding the stability of uncoated counterparts. Furthermore, when integrated with a commercial K₂SiF₆: Mn⁴⁺ red phosphor and a blue light-emitting diode (LED) chip, the resulting white LED (WLED) exhibits a wide color gamut covering 104% of the National Television System Committee (NTSC) standard and Commission Internationale de l’Éclairage (CIE) coordinates of (0.323, 0.331), closely matching standard white light. Importantly, only the silica-coated PQDs maintain a stable electrically driven device emission spectrum after water exposure. Full article

Background and Objectives: Reduced bone quality due to osteoporosis significantly complicates oral rehabilitation and bone regeneration therapies. While Vitamin D (Vit. D3) is crucial for osteogenesis, systemic administration often lacks local efficacy. This study aimed to evaluate the osteoregenerative potential of a novel Chitosan-based nanostructured scaffold (NS) loaded with Vit. D3, underlining its efficacy in vitro and in an ovariectomized (OVX) rat model of osteoporosis. Materials and Methods: Chitosan NSs were fabricated with varying Vit. D3 concentrations. In vitro assessments included cytotoxicity (MTT assay), cell viability (Alamar Blue), and mineralization (Alizarin Red) using human dental follicle stem cells. In vivo, 30 Wistar rats were ovariectomized to induce osteoporosis (confirmed by biomarkers Osteocalcin and β-CTX) and were divided into three groups (n = 10). Bilateral maxillary bone defects were treated with (1) a Control (clot only), (2) a Hemostatic Sponge with Vit. D3 (HS/Vit. D3), or (3) an NS loaded with Vit. D3 (NS/Vit. D3-6.25 ng/mL). Histological and morphometric analyses were performed at 4 and 8 weeks. Results: In vitro, the NS loaded with 6.25 ng/mL Vit. D3 demonstrated superior cytocompatibility, achieving a cell viability of 117.77% at 72 h and significantly enhanced calcium nodule deposition compared to controls. In vivo, a total of 44 defect sites were analyzed following the exclusion of compromised samples (Control: 16 sites; HS/Vit. D3: 16 sites; NS/Vit. D3: 12 sites). The NS/Vit. D3-6.25 ng/mL group exhibited the highest degree of mature bone formation and vascularization (p < 0.05) compared to the Control and HS/Vit. D3 groups. While cellular activity (osteoblasts/osteocytes) was initially higher in the HS/Vit. D3 group, the NS/Vit. D3-6.25 ng/mL group achieved superior structural integration and scaffold replacement by mature bone tissue over time. Conclusions: The novel Vit. D3-loaded Chitosan NS effectively promotes bone regeneration in osteoporotic conditions. It supports osteogenic differentiation in vitro and enhances bone matrix maturation in vivo, suggesting its potential as a bioactive scaffold for regenerative dentistry. Full article

We report a comprehensive study on the effect of H₂SeO₄ electrolyte temperature on the composition, defect, morphological, and luminescent properties of porous anodic aluminum oxide (AAO). An increase in the synthesis temperature led to a decrease in the AAO cell diameter from 85–115 nm to 38–58 nm (depending on the electrolyte concentration) and enhanced the etching of the AAO walls, which even resulted in the disintegration of the AAO into individual fibers at 40 °C. The selenium concentration in the samples formed in 0.5–1.5 M H₂SeO₄ in the temperature range of 5–40 °C did not exceed 2 at.% and fell below the detection limit at 40 °C. The formation of a nanocrystalline Al₂O₃ phase was observed in the H₂SeO₄ electrolyte at 40 °C. The samples exhibited weak photoluminescence. We identified three types of paramagnetic centers in AAO formed in H₂SeO₄: F⁺ centers (N_sF = 8.2 × 10¹⁵ g⁻¹), newly discovered centers with an unpaired electron localized on an oxygen atom (N_sO = 10¹⁷ g⁻¹), and centers associated with selenate radicals (N_sS = 6 × 10¹⁸ g⁻¹). By comparing the photoluminescence spectra and defect concentrations, we conclude that the luminescence of AAO formed in selenic acid is exclusively due to F⁺ centers, while other paramagnetic centers do not contribute. Full article

Noonan syndrome is a relatively common genetic syndrome with clinical and genetic heterogeneity. Besides the characteristic features such as short stature, typical facial features, congenital heart defects, skeletal and ocular anomalies, various orodental manifestations occur with variable frequency. High-arched palate, malocclusions, micrognathism, giant cell lesions, and anomalous lateral incisors are frequently observed features, whereas supernumerary teeth, hypodontia, macrodontia, enamel hypoplasia, severe dental caries, impacted teeth, delayed eruption, taurodontism and odontoma have occasionally been reported. Here, we present a family with three affected members displaying variable dental manifestations carrying the same PTPN11 c.178G>A pathogenic variant. A 14-year-old and a 12-year-old, both female patients, presented high-arched palates, delayed dental eruption and caries. Moreover, the younger sibling exhibited frequently observed manifestations such as malocclusion and gingivitis, and further rare features like open-bite, micrognathia, and crowded teeth were present. The mother of the patients had periodontitis and enamel problems. Monitoring the oral health of the patients with NS is important, as they are prone to severe dental caries, gingival and other orodental problems. Therefore, initiating early orodental examination is highly recommended for patients with suspicion or diagnosis of NS. Full article