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Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we validated the assays effectiveness and clinical utility and characterized the mutation spectrum of Taiwanese IRD patients. Between January 2018 and May 2022, 493 patients in 425 unrelated families, all initially suspected of having IRD without prior genetic diagnoses, underwent detailed ophthalmic and physical examinations (with extra-ocular features recorded) and genetic testing with our customized panel. Disease-causing variants were identified by segregation analysis and clinical interpretation, with validation via Sanger sequencing. We achieved a read depth of >200× for 94.2% of the targeted 1.2 Mb region. 68.5% (291/425) of the probands received molecular diagnoses, with 53.9% (229/425) resolved cases. Retinitis pigmentosa (RP) is the most prevalent initial clinical impression (64.2%), and 90.8% of the cohort have the five most prevalent phenotypes (RP, cone-rod syndrome, Ushers syndrome, Lebers congenital amaurosis, Bietti crystalline dystrophy). The most commonly mutated genes of probands that received molecular diagnosis are USH2A (13.7% of the cohort), EYS (11.3%), CYP4V2 (4.8%), ABCA4 (4.5%), RPGR (3.4%), and RP1 (3.1%), collectively accounted for 40.8% of diagnoses. We identify 87 unique unreported variants previously not associated with IRD and refine clinical diagnoses for 21 patients (7.22% of positive cases). We developed a customized gene panel and tested it on the largest Taiwanese cohort, showing that it provides excellent coverage for diverse IRD phenotypes.

In order to investigate the effect of low-temperature air cooling on the postmortem energy metabolism and meat quality of yellow-feathered broilers during mixed cooling (first water cooling and then air cooling), 85-day-old broilers were slaughtered and divided into three groups: treatment (water cooling at 0–4 ℃ followed by air cooling at −8, −18, −25 or −31 ℃), control (traditional water cooling at 0–4 ℃) and traditional mixed cooling (water cooling at 0–4 ℃ followed by air cooling at 0–4 ℃) groups. Finally, all carcasses were cooled to an internal temperature of 4 ℃, and the optimal air cooling temperature was determined by measuring cooling rate, pH, energy metabolism and quality indexes. The results showed that the cooling time of air cooling at −25 and −31 ℃ was 2 537 and 2 272 s, respectively, which was shortened by 27.78% and 35.33% compared with the traditional water cooling and by 51.87% and 56.90% compared with the traditional mixed cooling, respectively. Air cooling at −25 and −31 ℃ delayed the decrease in pH, reduced the drip loss and cooking loss of broiler breast muscle, significantly increased the shear force and the content of immobilized water compared with the control group (P < 0.05). Compared with the other groups, the activities of muscle hexokinases, phosphate-3-phosphate dehydrogenase and lactate dehydrogenase in the air cooling treatments at −25 and −31 ℃ were lower, and the consumptions of adenosine triphosphate (ATP) and glycogen, the production of lactic acid and adenosine monophosphate (AMP) and AMP/ATP ratio were the smallest (P < 0.05). The above findings showed that air cooling at −25 and −31 ℃ significantly inhibited the rate of anaerobic glycolysis during the early postmortem period in chicken meat, delayed the rate of pH decline, and effectively improved muscle water retention. From the perspective of industrial energy saving, −25 ℃ is determined as the best temperature for air cooling treatment.

BackgroundImperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance. We describe a set of monozygotic premature twins with imperforate hymen noted at birth, whose mother was diagnosed with the same condition as a teenager. We also elucidate the likely underlying mode of inheritance of imperforate hymen.MethodWe utilized the CARE (Case Report) guideline in reporting the cases.Case presentationThese are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy.DiscussionThis unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.

Four articles have been accepted for publication in this special section on “Recent Advances on Absorbers/Rasobers and Their Applications on Antennas and EMC”. These articles cover four distinct topics: microwave absorbers, radar cross-section reduction through phase distribution across metasurfaces, the design of miniaturized rasobers, and the 3D microwave absorber with wide angular stability. In the first article, Ning et al. [A1] provide a design methodology based on characteristic mode analysis to design reconfigurable microwave metasurface absorbers. A broadband absorber design was reported with a step-bystep process, which was verified by a full-wave simulation and measurement of a fabricated prototype. A bandwidth of 105% from 3.6 to 11.6 GHz was accomplished with less than -10 dB reflection coefficient. In the second article, Al-Nuaimi et al. [A2] utilize a novel cusp phase distribution across metasurface to achieve radar cross-section reduction. Without the need for lengthy optimization, it was found that the cusp phase mask was able to achieve radar crosssection reduction of more than 10 dB over a bandwidth of 81.8%. A stable performance was accomplished under both the normal and oblique incidence up to 75°. In the third article, Zargar et al. [A3] propose a miniaturized rasorber design with dual transmission bands within a wide absorption band. A design flow of the proposed rasorber was presented to give an overview of the design process. The final design exhibits a wide absorption band from 3.7 to 14.6 GHz and two transmission bands were generated within that band at 10.7 GHz and 16 GHz with insertion losses of 1 and 0.7 dB, respectively. The simulated results were confirmed by a fabricated prototype and measurements. In the last article, Feng et al. [A4] propose universal equivalent transmission line (TL) model and design method for efficient absorption under large angles to synthesis the absorptive performance of an absorber. A prototype with 70° angular stability is designed as an example to validate the proposed methods, where the measurements agree well with the synthesized and simulated results. Specifically speaking, the measured average absorption ratios (ARs) under normal incidence, 45° incidence, and 70° incidence are 94.2%, 94.0%, and 92.3%, respectively.

Abstract Dynamic network link prediction is extensively applicable in various scenarios, and it has progressively emerged as a focal point in data mining research. The comprehensive and accurate extraction of node information, as well as a deeper understanding of the temporal evolution pattern, are particularly crucial in the investigation of link prediction in dynamic networks. To address this issue, this paper introduces a node representation learning framework based on Graph Convolutional Networks (GCN), referred to as GCN_MA. This framework effectively combines GCN, Recurrent Neural Networks (RNN), and multi-head attention to achieve comprehensive and accurate representations of node embedding vectors. It aggregates network structural features and node features through GCN and incorporates an RNN with multi-head attention mechanisms to capture the temporal evolution patterns of dynamic networks from both global and local perspectives. Additionally, a node representation algorithm based on the node aggregation effect (NRNAE) is proposed, which synthesizes information including node aggregation and temporal evolution to comprehensively represent the structural characteristics of the network. The effectiveness of the proposed method for link prediction is validated through experiments conducted on six distinct datasets. The experimental outcomes demonstrate that the proposed approach yields satisfactory results in comparison to state-of-the-art baseline methods.

Objective·To explore the mechanism of changes in resistance to meropenem (MEM), a carbapenem drug, in Acinetobacter baumannii (A. baumannii) cultured in different antibiotic concentrations.Methods·Through changing the MEM concentration and other culture conditions of the standard sensitive strain of A. baumannii ATCC19606 and the clinical drug-resistant strain AB.2014, the derived strains with different levels of MEM-resistance were induced. The growth curves of all the stains were detected. DNA and RNA of them were extracted. PCR was used to analyze the expression of carbapenemase genes, including IMI, KPC, GES-1, IMP, VIM, NDM-1, OXA23, OXA24, OXA51, and OXA58. Real-time fluorescent quantitative PCR (RT-qPCR) was used to analyze the expression levels of the carbapenemase gene (OXA51), efflux pump genes (adeB, adeG, and adeJ), pore protein genes (carO, omp33-36, and oprC) and the penicillin-binding protein gene (ponA) in the A. baumannii strains with different resistance to MEM, of which the differential gene enrichment was also detected by whole genome sequencing and bioinformatics tools.Results·The 11 derived strains of ATCC19606 and AB.2014 with different levels of resistance to MEM were obtained, of which the minimum inhibitory concentrations (MIC) were 1‒128 μg/mL. The growth rates and peak values of ATCC19606 and its derivatives decreased with the increase of drug resistance, but AB.2014 and its derivatives did not show this trend. ATCC19606 and its derived strains expressed 3 carbapenemase genes, i.e., OXA51, VIM and IMP, while AB.2014 and most of its derived strains expressed 4 carbapenemase genes, i.e., OXA23, OXA51, VIM and IMP, with only one sensitized derivative of AB.2014 losing OXA23 gene. RT-qPCR results showed that only in ATCC19606 and its drug-resistant derivatives, the expression level of oprC gene decreased with the increase of drug resistance, and the expression levels of most drug-resistant genes were consistent with the changes of drug resistance levels of the strains. Bioinformatics analysis indicated that the differential genes among different ATCC19606 strains were mainly enriched in the siderophore uptake transmembrane transporter activity, cell outer membrane, bacterial secretion system and quorum sensing, while those among AB.2014 strains were mainly enriched in cell outer membrane, cellular response to chemical stimulus, atrazine degradation and RNA polymerase.Conclusion·The environmental pressure from carbapenems will cause the change of drug resistance of A. baumannii with the involvement of the genes of carbapenemases, efflux pumps, pore proteins and penicillin-binding proteins. The loss of carbapenemase gene OXA23 may lead to the desensitization of drug-resistant A. baumannii strains to carbapenems.

As an important part of heat shock response module, heat shock proteins (HSP) play an important role in plant defense response against heat stress; however, the involvement of the majority of the HSP family members against other abiotic stresses remains poorly understood. In the present study, LrHSP17.2 was identified and its function against abiotic stress was analyzed. The expression level of LrHSP17.2 was significantly induced by heat. Heterologous transgenes of LrHSP17.2 showed that LrHSP17.2 can increase the activity of catalase, peroxidase, superoxide dismutase to removes excess reactive oxygen species (ROS), maintain the stability of the membrane structure, and regulate genes related to antioxidant enzymes and defense under abiotic stress. In addition, LrHSP17.2 could be regulated by exogenous abscisic acid and melatonin, and the related hormone synthesis genes of transgenic plants were significantly up-regulated under heat stress. Taken together, our results revealed that LrHSP17.2 is involved in regulating abiotic stress responses by regulating ROS scavenging and stress-related genes in Lilium regale.

Abstract Biomaterials encounter considerable challenges in extensive bone defect regeneration. The amelioration of outcomes may be attainable through the orchestrated modulation of both innate and adaptive immunity. Silicon‐hydroxyapatite, for instance, which solely focuses on regulating innate immunity, is inadequate for long‐term bone regeneration. Herein, extra manganese (Mn)‐doping is utilized for enhancing the osteogenic ability by mediating adaptive immunity. Intriguingly, Mn‐doping engenders heightened recruitment of CD4+ T cells to the bone defect site, concurrently manifesting escalated T helper (Th) 2 polarization and an abatement in Th1 cell polarization. This consequential immune milieu yields a collaborative elevation of interleukin 4, secreted by Th2 cells, coupled with attenuated interferon gamma, secreted by Th1 cells. This orchestrated interplay distinctly fosters the osteogenesis of bone marrow stromal cells and effectuates consequential regeneration of the mandibular bone defect. The modulatory mechanism of Th1/Th2 balance lies primarily in the indispensable role of manganese superoxide dismutase (MnSOD) and the phosphorylation of adenosine 5′‐monophosphate‐activated protein kinase (AMPK). In conclusion, this study highlights the transformative potential of Mn‐doping in amplifying the osteogenic efficacy of silicon‐hydroxyapatite nanowires by regulating T cell‐mediated adaptive immunity via the MnSOD/AMPK pathway, thereby creating an anti‐inflammatory milieu favorable for bone regeneration.

A decoupling concept of near-field shrinking dielectric superstrate (NFSDS) is proposed for large-scale, wideband, and dual-polarized mm-wave arrays. An NFSDS with a thickness of 4 mm ( $0.32 \lambda _{0}$ at 24 GHz) is mounted seamlessly above the array, which shrinks the near field of the array elements to reduce the space wave coupling while slightly increasing the surface wave coupling of the arrays. By loading a superstrate with a certain thickness and low permittivity, the total coupling of the mm-wave arrays is reduced significantly. Periodic air holes are drilled through the superstrate to lower the NFSDS permittivity. An $8\times8$ mm-wave array is simulated, fabricated, and measured to verify the proposed decoupling concept. The simulated and measured coupling of the mm-wave array is reduced from −17 dB to lower than −23.2 dB from 24−29.5 GHz and lower than −25 dB in most of the band, respectively. The radiation patterns of the array before and after decoupling almost keep unchanged. Moreover, the NFSDS can efficiently improve the array beam scanning capability. The measured results align well with the simulated.

Polarimetry is an important part of a polarized 3He system. This work describes a laser detection setup which measures the free induction decay nuclear magnetic resonance (FID NMR) signal in the spin-polarized 3He system. The setup provides a novel approach to the high precision real-time polarization measurement of the polarized 3He systems. This laser detection method is based on Faraday rotation effect, which utilizes a linearly polarized laser beam to detect the FID signal of the magnetic moment of 3He atoms which precess along the direction of the main magnetic field. Compared with traditional pick-up coils, experimental results demonstrate that the laser detection method has a signal-to-noise ratio improvement of 106% and consequently higher precision in 3He polarization measurement. The laser detection method proposed in this paper can replace the pickup coils, and it has various applications in the polarization measurement of 3He systems or in precision measurement experiments.

This study investigated the implication of monitoring hypertensive disorders in pregnancy (HDP) to prevent preeclampsia (PE) in pregnant women of advanced maternal age. Between January 2016 and April 2021, 262 consecutive pregnant women aged ≥40 years were recruited. Extensive monitoring of hypertensive disorders in pregnancy, including blood hypercoagulability screening and subsequent interventions, was performed in 129 pregnant women in our university hospital. The remaining 133 patients from other centres, who did not receive antenatal maternal pregnancy screening and preventive intervention during the same period, constituted the non-intervention group enabling comparison to mimic a trial. The incidences of hypertensive disorders, mild and severe PE, eclampsia, and chronic hypertension complicated by PE in the intervention group were significantly lower than in the non-intervention group (10.08 versus 20.30%, 8.52 versus 18.80%, 7.75 versus 21.05%, 0 versus 3.01%, and 3.86 versus 15.04%, respectively; P < 0.05). Premature birth, low birth weight, and foetal loss were significantly rarer in the intervention group than in the non-intervention group (6.98 versus 24.81%, 7.75 versus 21.80%, and 0.78 versus 14.29% respectively; P < 0.001). The comparison of MP with routine blood coagulation biochemical examination found that the MP detection system of Beijing Yes Medical Devices Co., Ltd., had similar sensitivity as thromboelastogram. Still, it was significantly better than the routine biochemical indicators (P < 0.01). Based on MP parameters, early anticoagulant treatment with low-molecular-weight heparin or low-dose aspirin in pregnant women with hypercoagulability can effectively prevent the occurrence of PE and significantly improve the prognosis of both mothers and infants.