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The human 16p11.2 BP4–BP5 region, composed of low-copy repeats, is prone to mediating recurrent copy number variations that increase the risk of neurodevelopmental disorders. Compared with 16p11.2 deletion variants, duplication variants have lower penetrance and higher phenotypic heterogeneity. Due to limited perinatal data, early phenotypes warrant further investigation. We report the case of a neonate with seizures, microcephaly, and neurodevelopmental delay whose parents were phenotypically normal. Whole-exome sequencing revealed a 200.15-kb duplication in 16p11.2 seq[GRCh38]dup(16)(p11.2-p11.2) (chr16:29,963,728-30,168,686) in the proband and his mother, which was confirmed via quantitative polymerase chain reaction. This case highlights the potential link between 16p11.2 duplications and neonatal neurodevelopmental disorders, emphasizing the need for genetic counseling in affected families.

In this paper, an object detection and recognition method based on improved YOLOv5 is proposed for application on unmanned aerial vehicle (UAV) aerial images. Firstly, we improved the traditional Gabor function to obtain Gabor convolutional kernels with better edge enhancement properties. We used eight Gabor convolutional kernels to enhance the object edges from eight directions, and the enhanced image has obvious edge features, thus providing the best object area for subsequent deep feature extraction work. Secondly, we added a coordinate attention (CA) mechanism to the backbone of YOLOv5. The plug-and-play lightweight CA mechanism considers information of both the spatial location and channel of features and can accurately capture the long-range dependencies of positions. CA is like the eyes of YOLOv5, making it easier for the network to find the region of interest (ROI). Once again, we replaced the Path Aggregation Network (PANet) with a Bidirectional Feature Pyramid Network (BiFPN) at the neck of YOLOv5. BiFPN performs weighting operations on different input feature layers, which helps to balance the contribution of each layer. In addition, BiFPN adds horizontally connected feature branches across nodes on a bidirectional feature fusion structure to fuse more in-depth feature information. Finally, we trained the overall improved YOLOv5 model on our integrated dataset LSDUVD and compared it with other models on multiple datasets. The results show that our method has the best convergence effect and mAP value, which demonstrates that our method has unique advantages in processing detection tasks of UAV aerial images.

Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performed genetic diagnostics on a neonatal patient who presented with feeding difficulties, hypotonia, and an atrial septal defect. We utilized a combination of trio-whole exome sequencing and OGM for our analysis. The results revealed an unbalanced translocation between maternal chromosomes 4 and 6 in the proband, ogm[GRch38]t(4:6)(q35.2;q25.3), resulting in a 2.8 Mb deletion at the 4q35 terminal and a 10.2 Mb duplication at the 6q25 terminal. In summary, this study highlights how OGM, in conjunction with other genetic approaches, can unveil the genetic etiology of complex clinical syndromes. Neonatal patients often exhibit low specific phenotypes, underlining the significance of SV detection.

Background Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM. We herein report the case of a neonate with CFM exhibiting rare features of airway obstruction. Methods Trio whole‐exome sequencing and Sanger validation were performed on the proband and her parents. Candidate gene mutations were analyzed using the Genome Aggregation Database (gnomAD) for normal frequency distributions. The Human Splicing Finder (HSF) and Rare Disease Data Center (RDDC) RNA splicer algorithms predicted the variant's harmfulness, verified by a Minigene assay. Results The proband had a heterozygous SF3B2 variant, NM_006842.3:c.777+1G>A. The patient's father also carried this variant and exhibited facial abnormalities. The variant was not in gnomAD, and HSF and RDDC RNA splicers indicated donor site disruption. The minigene assay suggested that two mRNA products were produced, leading to a premature termination codon. Conclusion For this family, the pathogenesis of CFM may have been caused by an SF3B2 splicing variant. Affected family members exhibited varying degrees of malformation, indicating that CFM has phenotypic heterogeneity. This finding expands the phenotype and variant spectrum of SF3B2, enriches neonatal CFM research, and provides a possible guide to genetic counseling. This study presents the clinical phenotype and genetic variant data of a family with craniofacial microsomia. The proband was a neonate with facial abnormalities and a rare feature of airway obstruction. Genetic analyses indicated a heterozygous SF3B2 variant, which was inherited from the father. A Minigene assay revealed that two mRNA products were produced, leading to a premature termination codon.

To prevent noise pollution, a hexagonal acoustic metamaterial cell combining multiple parallel Helmholtz resonators with optional apertures is proposed. There were 6 trapezoidal chambers and 6 triangular chambers, and each front panel had 6 different apertures, which meant that there were 6 12 = 2176782336 possible permutations. The distribution of sound pressures obtained by acoustic finite element simulation revealed the acoustic absorption mechanism, which provided effective guidance to alter the absorption capacity. For certain scenarios, the acoustic absorption performance was optimized by the joint combination of artificial neural network and acoustic finite element simulation. Through manufacturing and testing the sample, actual average acoustic absorption coefficients were achieved at 0.6733, 0.7296, 0.8785 and 0.7065 for the target frequency ranges 350–950 Hz, 400–1000 Hz, 500–800 Hz and 350–700 Hz, respectively, with total thickness 40 mm. The tunable acoustic absorption property proved that the hexagonal acoustic metamaterial cell was appropriate for noise reduction with variable frequency ranges.

Background Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. Usually, it starts early on and manifests as intractable epilepsy, abnormal electroencephalogram, and growth retardation/intellectual impairment. With the advent of next‐generation sequencing (NGS), its genetic etiology has attracted increasing clinical attention. This study aimed to investigate the genetic characteristics and clinical phenotypes of patients with EIEE from a central hospital in Eastern China. Methods This study retrospectively included the gene variants from 24 EIEE‐positive patients admitted between January 2021 and January 2022 to a hospital in Anhui Province, China. The genetic diagnosis was performed in all cases by trio‐based whole‐exome sequencing (WES). Additionally, Video electroencephalogram (VEEG) and neuroimaging examinations were performed. Results A total of 24 children were included. The average age at the first seizure was approximately 5 months. About 42% of children had developmental retardation of varying degrees, 43% had brain structural abnormalities, and 64% had VEEG abnormalities. In addition, other phenotypes, including endocrine metabolism and cardiac structural abnormalities, have been independently reported. In total, fifteen pathogenic gene variants were identified in 24 patients. The main pathogenic genes identified were SCN1A (25%, 6/24), KCNQ2 (8.3%, 2/24), and TBC1D24 (8.3%, 2/24). We also found an extremely rare case of EIEE84 type caused by biallelic UGDH gene variants, predicting that this variant might affect the stability of the protein structure. Conclusions SCN1A pathogenic variants are the main factor leading to EIEE, similar to previously published cohort reports. NGS is useful for accurate clinical diagnoses and precise treatment choices. We also reported a rare case of EIEE84 caused by variants in the UGDH gene in a Chinese patient. This study further enriches the known spectrum of pathogenic EIEE genes. We conducted a retrospective study of 24 cases in a hospital in eastern China and found variants in several genes. Of note, we found a compound heterozygous mutation in UGDH. One of the mutations in the second exon has not been described previously. We performed a protein analysis of the structure and proposed that the mutated protein may be unstable. Our results add to the growing list of mutations that affect this gene. Since the condition responds poorly to antiepileptic therapy, increased single‐gene mutations may aid in more targeted therapy.

A Helmholtz resonator (HR) with an embedded aperture is an effective acoustic metamaterial for noise reduction in the low-frequency range. Its sound absorption property is significantly affected by the aperture shape. Sound absorption properties of HRs with the embedded aperture for various tangent sectional shapes were studied by a two-dimensional acoustic finite element simulation. The sequence of resonance frequency from low to high was olive, common trapeziform, reverse trapeziform, dumbbell and rectangle. Meanwhile, those HRs for various cross-sectional shapes were investigated by a three-dimensional acoustic finite element simulation. The sequence of resonance frequency from low to high were round, regular hexagon, square, regular triangle and regular pentagon. Moreover, the reason for these phenomena was analyzed by the distributions of sound pressure, acoustic velocity and temperature. Furthermore, on the basement of the optimum tangent and cross-sectional shape, the sound absorption property of parallel-connection Helmholtz resonators was optimized. The experimental sample with optimal parameters was fabricated, and its average sound absorption coefficient reached 0.7821 in 500–820 Hz with a limited thickness of 30 mm. The research achievements proved the significance of aperture shape, which provided guidance for the development of sound absorbers in the low-frequency range.

The limited occupied space and various noise spectrum requires an adjustable sound absorber with a smart structure and tunable sound absorption performance. The hexagonal acoustic metamaterial cell of the multiple parallel-connection resonators with tunable perforating rate was proposed in this research, which consisted of six triangular cavities and six trapezium cavities, and the perforation rate of each cavity was adjustable by moving the sliding block along the slideway. The optimal geometric parameters were obtained by the joint optimization of the acoustic finite element simulation and cuckoo search algorithm, and the average sound absorption coefficients in the target frequency ranges of 650–1150 Hz, 700–1200 Hz and 700–1000 Hz were up to 0.8565, 0.8615 and 0.8807, respectively. The experimental sample was fabricated by the fused filament fabrication method, and its sound absorption coefficients were further detected by impedance tube detector. The consistency between simulation data and experimental data proved the accuracy of the acoustic finite element simulation model and the effectiveness of the joint optimization method. The tunable sound absorption performance, outstanding low-frequency noise reduction property, extensible outline structure and efficient space utilization were favorable to promote its practical applications in noise reduction.

In order to achieve a balance between sound insulation and ventilation, a novel acoustic metamaterial of air-permeable multiple-parallel-connection folding chambers was proposed in this study that was based on Fano-like interference, and its sound-insulation performance was investigated through acoustic finite element simulation. Each layer of the multiple-parallel-connection folding chambers consisted of a square front panel with many apertures and a corresponding chamber with many cavities, which were able to extend both in the thickness direction and in the plane direction. Parametric analysis was conducted for the number of layers nl and turns nt, the thickness of each layer L2, the inner side lengths of the helical chamber a1, and the interval s among the various cavities. With the parameters of nl = 10, nt = 1, L2 = 10 mm, a1 = 28 mm, and s = 1 mm, there were 21 sound-transmission-loss peaks in the frequency range 200–1600 Hz, and the sound-transmission loss reached 26.05 dB, 26.85 dB, 27.03 dB, and 33.6 dB at the low frequencies 468 Hz, 525 Hz, 560 Hz, and 580 Hz, respectively. Meanwhile, the corresponding open area for air passage reached 55.18%, which yielded a capacity for both efficient ventilation and high selective-sound-insulation performance.

To reduce the noise generated by large mechanical equipment, a stackable and expandable acoustic metamaterial with multiple tortuous channels (SEAM–MTCs) was developed in this study. The proposed SEAM–MTCs consisted of odd panels, even panels, chambers, and a final closing plate, and these component parts could be fabricated separately and then assembled. The influencing factors, including the number of layers N, the thickness of panel t0, the size of square aperture a, and the depth of chamber T0 were investigated using acoustic finite element simulation. The sound absorption mechanism was exhibited by the distributions of the total acoustic energy density at the resonance frequencies. The number of resonance frequencies increased from 13 to 31 with the number of layers N increasing from 2 to 6, and the average sound absorption coefficients in [200 Hz, 6000 Hz] was improved from 0.5169 to 0.6160. The experimental validation of actual sound absorption coefficients in [200 Hz, 1600 Hz] showed excellent consistency with simulation data, which proved the accuracy of the finite element simulation model and the reliability of the analysis of influencing factors. The proposed SEAM–MTCs has great potential in the field of equipment noise reduction.