Two novel variants of the CAPN3 gene in Chinese patients with Limb-Girdle Muscular Dystrophy Recessive 1.

Introduction Recessive mutations in the CAPN3 gene can lead to Limb-girdle muscular dystrophy Recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions. Methods We performed targeted next-generation sequencing of all exons of the CAPN3 gene in four patients with sporadic LGMD and further analyzed the effects of the novel identified variant using various software tools. Results We found 5 variants in CAPN3 gene in four patients, c.82_83insC (insertion mutation) and c.1115+2T>C (splicing mutation) are reported for the first time in CAPN3 (NM_000070.2). The bioinformatics analysis indicated that these two novel variants affected CAPN3 transcription as well as translation. Discussion Our findings reveal previously unreported splicing mutation and insertion mutation in CAPN3 gene, further expanding the pathogenic gene profile of LGMD.

Acute ischemic stroke with a diagnosis of Marfan syndrome: A report of 3 cases in multifaceted settings.

RATIONALE: Marfan syndrome (MFS), which is a dominantly inherited connective tissue disease resulting from a mutation in the FBN1 gene, exhibits variable manifestations affecting the cardiovascular, musculoskeletal, ophthalmologic, and pulmonary systems. Notably, neurologic deficiency, which involves ischemic or hemorrhagic stroke, is a rare but severe manifestation. The safety of rt-PA treatment for ischemic stroke caused by MFS is still under discussion. PATIENT CONCERNS: In the current report, we discuss 3 atypical MFS cases presented as acute ischemic stroke, compared to those exhibiting cardiovascular and musculoskeletal abnormalities. DIAGNOSES: Three patients were diagnosed with acute ischemic stroke accompanied by MFS based on clinical manifestations, imaging examinations, and genetic testings. INTERVENTIONS: The first case underwent intravenous thrombolytic therapy with rt-PA, the second case received antiplatelet therapy, and the third case received anticoagulant therapy and perfusion therapy. OUTCOMES: The neurologic deficiency of all three patients showed improvement upon discharge, and there were no symptoms of recurrence observed during the follow-up period. LESSONS SUBSECTIONS: MFS is a rare etiology in young people with embolic stroke of undetermined source. Physicians should take MFS into consideration when they observe the characteristic symptoms during a consultation. The potential pathogenesis of ischemic stroke secondary to MFS may include cardio-embolism, arterial dissection, and hypoperfusion. Although intravenous thrombolysis is a promising therapy to treat acute ischemic stroke, further examinations should be conducted to rule out contraindications in patients with a suspicion of MFS.

Identifying the Quantitative Trait Locus and Candidate Genes of Traits Related to Milling Quality in Rice via a Genome-Wide Association Study.

Milling quality directly affects production efficiency in rice, which is closely related to the brown rice recovery (BRR), the milled rice recovery (MRR) and the head milled rice recovery (HMRR). The present study investigated these three traits in 173 germplasms in two environments, finding abundant phenotypic variation. Three QTLs for BRR, two for MRR, and three for HMRR were identified in a genome-wide association study, five of these were identified in previously reported QTLs and three were newly identified. By combining the linkage disequilibrium (LD) analyses, the candidate gene LOC_Os05g08350 was identified. It had two haplotypes with significant differences and Hap 2 increased the BRR by 4.40%. The results of the qRT-PCR showed that the expression of LOC_Os05g08350 in small-BRR accessions was significantly higher than that in large-BRR accessions at Stages 4-5 of young panicle development, reaching the maximum value at Stage 5. The increase in thickness of the spikelet hulls of the accession carrying LOC_Os05g08350TT occurred due to an increase in the cell width and the cell numbers in cross-sections of spikelet hulls. These results help to further clarify the molecular genetic mechanism of milling-quality-related traits and provide genetic germplasm materials for high-quality breeding in rice.

Observation of an acoustic topological Euler insulator with meronic waves.

Topological band theory has conventionally been concerned with the topology of bands around a single gap. Only recently non-Abelian topologies that thrive on involving multiple gaps were studied, unveiling a new horizon in topological physics beyond the conventional paradigm. Here, we report on the first experimental realization of a topological Euler insulator phase with unique meronic characterization in an acoustic metamaterial. We demonstrate that this topological phase has several nontrivial features: First, the system cannot be described by conventional topological band theory, but has a nontrivial Euler class that captures the unconventional geometry of the Bloch bands in the Brillouin zone. Second, we uncover in theory and probe in experiments a meronic configuration of the bulk Bloch states for the first time. Third, using a detailed symmetry analysis, we show that the topological Euler insulator evolves from a non-Abelian topological semimetal phase via. the annihilation of Dirac points in pairs in one of the band gaps. With these nontrivial properties, we establish concretely an unconventional bulk-edge correspondence which is confirmed by directly measuring the edge states via. pump-probe techniques. Our work thus unveils a nontrivial topological Euler insulator phase with a unique meronic pattern and paves the way as a platform for non-Abelian topological phenomena.

Measuring entanglement entropy and its topological signature for phononic systems.

Entanglement entropy is a fundamental concept with rising importance in various fields ranging from quantum information science, black holes to materials science. In complex materials and systems, entanglement entropy provides insight into the collective degrees of freedom that underlie the systems' complex behaviours. As well-known predictions, the entanglement entropy exhibits area laws for systems with gapped excitations, whereas it follows the Gioev-Klich-Widom scaling law in gapless fermion systems. However, many of these fundamental predictions have not yet been confirmed in experiments due to the difficulties in measuring entanglement entropy in physical systems. Here, we report the experimental verification of the above predictions by probing the nonlocal correlations in phononic systems. We obtain the entanglement entropy and entanglement spectrum for phononic systems with the fermion filling analog. With these measurements, we verify the Gioev-Klich-Widom scaling law. We further observe the salient signatures of topological phases in entanglement entropy and entanglement spectrum.

Observation of D-class topology in an acoustic metamaterial.

Topological materials and metamaterials opened new paradigms to create and manipulate phases of matter with unconventional properties. Topological D-class phases (TDPs) are archetypes of the ten-fold classification of topological phases with particle-hole symmetry. In two dimensions, TDPs support propagating topological edge modes that simulate the elusive Majorana elementary particles. Furthermore, a piercing of π-flux Dirac-solenoids in TDPs stabilizes localized Majorana excitations that can be braided for the purpose of topological quantum computation. Such two-dimensional (2D) TDPs have been a focus in the research frontier, but their experimental realizations are still under debate. Here, with a novel design scheme, we realize 2D TDPs in an acoustic crystal by synthesizing both the particle-hole and fermion-like time reversal symmetries for a wide range of frequencies. The design scheme leverages an enriched unit cell structure with real-valued couplings that emulate the targeted Hamiltonian of TDPs with complex hoppings: A technique that could unlock the realization of all topological classes with passive metamaterials. In our experiments, we realize a pair of TDPs with opposite Chern numbers in two independent sectors that are connected by an intrinsic fermion-like time-reversal symmetry built in the system. We measure the acoustic Majorana-like helical edge modes and visualize their robust topological transport, thus revealing the unprecedented D and DIII class topologies with direct evidence. Our study opens up a new pathway for the experimental realization of two fundamental classes of topological phases and may offer new insights in fundamental physics, materials science, and phononic information processing.

Genome-Wide Association Analysis Unravels New Quantitative Trait Loci (QTLs) for Eight Lodging Resistance Constituent Traits in Rice (Oryza sativa L.).

Lodging poses a significant challenge to rice yield, prompting the need to identify elite alleles for lodging resistance traits to improve cultivated rice varieties. In this study, a natural population of 518 rice accessions was examined to identify elite alleles associated with plant height (PH), stem diameter (SD), stem anti-thrust (AT/S), and various internode lengths (first (FirINL), second (SecINL), third (ThirINL), fourth (ForINL), and fifth (FifINL) internode lengths). A total of 262 SSR markers linked to these traits were uncovered through association mapping in two environmental conditions. Phenotypic evaluations revealed striking differences among cultivars, and genetic diversity assessments showed polymorphisms across the accessions. Favorable alleles were identified for PH, SD, AT/S, and one to five internode lengths, with specific alleles displaying considerable effects. Noteworthy alleles include RM6811-160 bp on chromosome 6 (which reduces PH) and RM161-145 bp on chromosome 5 (which increases SD). The study identified a total of 42 novel QTLs. Specifically, seven QTLs were identified for PH, four for SD, five for AT/S, five for FirINL, six for SecINL, five for ThirINL, six for ForINL, and four for FifINL. QTLs qAT/S-2, qPH2.1, qForINL2.1, and qFifINL exhibited the most significant phenotypic variance (PVE) of 3.99% for the stem lodging trait. AT/S, PH, ForINL, and FifINL had additive effects of 5.31 kPa, 5.42 cm, 4.27 cm, and 4.27 cm, respectively, offering insights into eight distinct cross-combinations for enhancing each trait. This research suggests the potential for crossbreeding superior parents based on stacked alleles, promising improved rice cultivars with enhanced lodging resistance to meet market demands.

QTL Detection and Candidate Gene Identification for Eating and Cooking Quality Traits in Rice (Oryza sativa L.) via a Genome-Wide Association Study.

The eating and cooking quality (ECQ) directly affects the taste of rice, being closely related to factors such as gelatinization temperature (GT), gel consistency (GC) and amylose content (AC). Mining the quantitative trait loci (QTLs), and gene loci controlling ECQ-related traits is vital. A genome-wide association study on ECQ-related traits was conducted, combining 1.2 million single nucleotide polymorphisms (SNPs) with the phenotypic data of 173 rice accessions. Two QTLs for GT, one for GC and five for AC were identified, of which two were found in previously reported genes, and six were newly found. There were 28 positional candidate genes in the region of qAC11. Based on a linkage disequilibrium (LD) analysis, three candidate genes were screened within the LD region associated with AC. There were significant differences between the haplotypes of LOC_Os11g10170, but no significant differences were found for the other two genes. The qRT-PCR results showed that the gene expression levels in the accessions with high ACs were significantly larger than those in the accessions with low ACs at 35d and 42d after flowering. Hap 2 and Hap 3 of LOC_Os11g10170 reduced the AC by 13.09% and 10.77%, respectively. These results provide a theoretical and material basis for improving the ECQ of rice.

Electrical tuning of branched flow of light.

Branched flows occur ubiquitously in various wave systems, when the propagating waves encounter weak correlated scattering potentials. Here we report the experimental realization of electrical tuning of the branched flow of light using a nematic liquid crystal (NLC) system. We create the physical realization of the weakly correlated disordered potentials of light via the inhomogeneous orientations of the NLC. We demonstrate that the branched flow of light can be switched on and off as well as tuned continuously through the electro-optical properties of NLC film. We further show that the branched flow can be manipulated by the polarization of the incident light due to the optical anisotropy of the NLC film. The nature of the branched flow of light is revealed via the unconventional intensity statistics and the rapid fidelity decay along the light propagation. Our study unveils an excellent platform for the tuning of the branched flow of light which creates a testbed for fundamental physics and offers a new way for steering light.

Identification of Prognostic and Immune Characteristics of Two Lung Adenocarcinoma Subtypes Based on TRPV Channel Family Genes.

Lung adenocarcinoma (LUAD) is one of the deadliest malignant tumors worldwide. Transient receptor potential vanilloid (TRPV) channels take pivotal parts in many cancers, but their impact on LUAD remains unexplored. In this study, LUAD samples were classified into two subtypes according to the expression characteristics of TRPV1-6 genes, with LUAD subtype cluster2 exhibiting significantly higher survival rates than cluster1. Subsequently, analysis of differentially expressed genes (DEGs) was performed between cluster1 and cluster2, revealing enrichment of DEGs in channel activity and Ca2+ signaling pathways. We established a protein-protein interaction network based on DEGs and constructed a LUAD prognostic model by using Cox regression analysis based on genes corresponding to 170 protein nodes. The prognostic model demonstrated good predictive ability for patient prognosis, with higher survival rates observed in the low-risk (LR) group. The risk score was validated as an independent prognostic indicator, according to Cox regression analysis. A clinically applicable nomogram was plotted. Immunological analysis indicated that the LR and high-risk (HR) groups had varied proportions of immune cell infiltration. The immunotherapy prediction indicated that LUAD patients in LR group had a greater likelihood to benefit from immune checkpoint blockade therapy. Furthermore, we hypothesized that the expression patterns of feature genes in the LUAD model were related to the sensitivity to lung cancer therapeutic drugs TAS-6417 and Erlotinib. To sum up, our LUAD prognostic model possessed clinical applicability for prognosis and immunotherapy response prediction.

Topological phononic metamaterials.

The concept of topological energy bands and their manifestations have been demonstrated in condensed matter systems as a fantastic paradigm toward unprecedented physical phenomena and properties that are robust against disorders. Recent years, this paradigm was extended to phononic metamaterials (including mechanical and acoustic metamaterials), giving rise to the discovery of remarkable phenomena that were not observed elsewhere thanks to the extraordinary controllability and tunability of phononic metamaterials as well as versatile measuring techniques. These phenomena include, but not limited to, topological negative refraction, topological 'sasers' (i.e. the phononic analog of lasers), higher-order topological insulating states, non-Abelian topological phases, higher-order Weyl semimetal phases, Majorana-like modes in Dirac vortex structures and fragile topological phases with spectral flows. Here we review the developments in the field of topological phononic metamaterials from both theoretical and experimental perspectives with emphasis on the underlying physics principles. To give a broad view of topological phononics, we also discuss the synergy with non-Hermitian effects and cover topics including synthetic dimensions, artificial gauge fields, Floquet topological acoustics, bulk topological transport, topological pumping, and topological active matters as well as potential applications, materials fabrications and measurements of topological phononic metamaterials. Finally, we discuss the challenges, opportunities and future developments in this intriguing field and its potential impact on physics and materials science.

Chemerin and IL-17 are potential predictors and Chemerin silencing alleviates inflammatory response and bone remodeling in chronic rhinosinusitis.

Chronic rhinosinusitis (CRS) is an inflammatory disease of paranasal sinuses. This study is formulated to explore the roles of pro-inflammatory factors Chemerin and interleukin-17 (IL-17) in CRS. Patients suffering from CRS without/with nasal polyps (CRSsNP/CRSwNP), along with volunteers, were recruited. CRS rabbit models were constructed by Staphylococcus aureus infection and rabbits were injected with lentiviral vectors of short hairpin RNA-targeting Chemerin (shChemerin), followed by micro-computed tomography (CT) scan. Levels of Chemerin and IL-17 were determined, and histopathological lesions were observed in subjects and CRS rabbits. Correlations between Chemerin/IL-17 level and Lund-Mackay/Lund-Kennedy scores of subjects and the predictive value of Chemerin or IL-17 for CRS were analyzed. In CRS patients and rabbits, inflammatory degrees and the level of Chemerin/IL-17 were increased in pathological tissues or plasma, while Chemerin silencing alleviated CRS symptoms of CRS rabbits. Chemerin and IL-17 were mainly located in the immune cells of pathological tissues and presented the positive correlation with Lund-Mackay/Lund-Kennedy score of CRS patients. Also, they showed high predictive value for CRS. Micro-CT scan uncovered that CRS rabbits had increased bone remodeling, which was alleviated by Chemerin silencing. Collectively, Chemerin and IL-17 are potential predictors and Chemerin silencing alleviates inflammatory response and bone remodeling in chronic rhinosinusitis.

Geometric Phase in Twisted Topological Complementary Pair.

Geometric phase enabled by spin-orbit coupling has attracted enormous interest in optics over the past few decades. However, it is only applicable to circularly-polarized light and encounters substantial challenges when applied to wave fields lacking the intrinsic spin degree of freedom. Here, a new paradigm is presented for achieving geometric phase by elucidating the concept of topological complementary pair (TCP), which arises from the combination of two compact phase elements possessing opposite intrinsic topological charge. Twisting the TCP leads to the generation of a linearly-varying geometric phase of arbitrary order, which is quantified by the intrinsic topological charge. Notably distinct from the conventional spin-orbit coupling-based theories, the proposed geometric phase is the direct result of the cyclic evolution of orbital-angular-momentum transformation in mode space, thereby exhibiting universality across classical wave systems. As a proof of concept, the existence of this geometric phase is experimentally demonstrated using scalar acoustic waves, showcasing the remarkable ability in the precise manipulation of acoustic waves at subwavelength scales. These findings engender a fresh understanding of wave-matter interaction in compact structures and establish a promising platform for exploring geometric phase, offering significant opportunities for diverse applications in wave systems.

In situ Simulation of Thermal Reality.

Simulated reality encompasses virtual, augmented, and mixed realities-each characterized by different degrees of truthfulness in the visual perception: "all false," "coexistence of true and false," and "difficult distinction between true and false," respectively. In all these technologies, however, the temperature rendering of virtual objects is still an unsolved problem. Undoubtedly, the lack of thermal tactile functions substantially reduces the quality of the user's real-experience perception. To address this challenge, we propose theoretically and realize experimentally a technological platform for the in situ simulation of thermal reality. To this purpose, we design a thermal metadevice consisting of a reconfigurable array of radiating units, capable of generating the thermal image of any virtual object, and thus rendering it in situ together with its thermal signature. This is a substantial technological advance, which opens up new possibilities for simulated reality and its applications to human activities.

A deep learning method for foot-type classification using plantar pressure images.

Background: Flat foot deformity is a prevalent and challenging condition often leading to various clinical complications. Accurate identification of abnormal foot types is essential for appropriate interventions. Method: A dataset consisting of 1573 plantar pressure images from 125 individuals was collected. The performance of the You Only Look Once v5 (YOLO-v5) model, improved YOLO-v5 model, and multi-label classification model was evaluated for foot type identification using the collected images. A new dataset was also collected to verify and compare the models. Results: The multi-label classification algorithm based on ResNet-50 outperformed other algorithms. The improved YOLO-v5 model with Squeeze-and-Excitation (SE), the improved YOLO-v5 model with Convolutional Block Attention Module (CBAM), and the multilabel classification model based on ResNet-50 achieved an accuracy of 0.652, 0.717, and 0.826, respectively, which is significantly higher than those obtained using the ordinary plantar-pressure system and the standard YOLO-v5 model. Conclusion: These results indicate that the proposed DL-based multilabel classification model based on ResNet-50 is superior in flat foot type detection and can be used to evaluate the clinical rehabilitation status of patients with abnormal foot types and various foot pathologies when more data on patients with various diseases are available for training.

LAX1, functioning with MADS-box genes, determines normal palea development in rice.

Normal floral organ development in rice is necessary for grain formation. Many MADS-box family genes that belong to ABCDE model have been widely implicated in rice flower development. The LAX1 allele encodes a plant-specific basic helix-loop-helix (bHLH) transcription factor, which is the main regulator of axillary meristem formation in rice. However, the molecular mechanisms of LAX1 allele together with MADS-box family genes underlying palea development have not been reported. We found a short palea mutant plant in a population of indica rice variety 9311 treated with cobalt 60. We report the map-based cloning and characterization of lax1-7, identified as a new mutant allele of the LAX1 locus, and the role of its wild-type allele LAX1 in rice palea development. Through complementary experiments, combined with genetic and molecular biological analyses, the function of the LAX1 allele was determined. We showed that LAX1 allele is expressed specifically in young spikelets and encodes a nucleus-localized protein. In vitro and in vivo experiments revealed that the LAX1 protein physically interacts with OsMADS1, OsMADS6 and OsMADS7. The LAX1 allele is pleiotropic for the maintenance of rice palea identity via cooperation with MADS-box genes and other traits, including axillary meristem initiation, days to heading, plant height, panicle length and spikelet fertility.

Hybrid topological photonic crystals.

Topologically protected photonic edge states offer unprecedented robust propagation of photons that are promising for waveguiding, lasing, and quantum information processing. Here, we report on the discovery of a class of hybrid topological photonic crystals that host simultaneously quantum anomalous Hall and valley Hall phases in different photonic band gaps. The underlying hybrid topology manifests itself in the edge channels as the coexistence of the dual-band chiral edge states and unbalanced valley Hall edge states. We experimentally realize the hybrid topological photonic crystal, unveil its unique topological transitions, and verify its unconventional dual-band gap topological edge states using pump-probe techniques. Furthermore, we demonstrate that the dual-band photonic topological edge channels can serve as frequency-multiplexing devices that function as both beam splitters and combiners. Our study unveils hybrid topological insulators as an exotic topological state of photons as well as a promising route toward future applications in topological photonics.

Optical parity-time induced perfect resonance transmission in zero index metamaterials.

Non-Hermitian photonic systems with balanced gain and loss have become significantly more popular due to their potential applications in communications and lasing. In this study, we introduce the concept of optical parity-time (PT) symmetry to zero-index metamaterials (ZIMs) to investigate the transport of electromagnetic (EM) waves through a PT-ZIM junction in a waveguide system. The PT-ZIM junction is formed by doping two dielectric defects of the same geometry in the ZIM, with one being the gain and the other being the loss. It is found that the balanced gain and loss can induce a perfect transmission resonance in a perfect reflection background, and the resonant linewidth is controllable and determined by the gain/loss. The smaller the gain/loss, the narrower the linewidth and the larger the quality (Q) factor of the resonance. This finding originates from the fact that the introduced PT symmetry breaks the spatial symmetry of the structure, leading to the excitation of quasi-bound states in the continuum (quasi-BIC). Additionally, we also show that the lateral displacements of the two cylinders play a crucial role in the electromagnetic transport properties in ZIMs with PT symmetry, which breaks the common sense that the transport effect in ZIMs is location-independent. Our results provide a new approach to manipulate the interaction of EM waves with defects in ZIMs using gain and loss to achieve anomalous transmission, and a pathway to investigate non-Hermitian photonics in ZIMs with potential applications in sensing, lasing, and nonlinear optics.

Effects of silent brain infarction on the hemorrhagic transformation and prognosis in patients with acute ischemic stroke after intravenous thrombolysis.

Background: Silent brain infarction (SBI) is a special type of stroke with no definitive time of onset, which can be found on pre-thrombolysis imaging examination in some patients with acute ischemic stroke (AIS). However, the significance of SBI on intracranial hemorrhage transformation (HT) and clinical outcomes after intravenous thrombolysis therapy (IVT) is uncertain. We aimed to explore the effects of SBI on intracranial HT and the 3-month clinical outcome in patients with AIS after IVT. Methods: We consecutive collected patients who were diagnosed with ischemic stroke and received IVT from August 2016 to August 2022, and conducted a retrospective analysis in this study. The clinical and laboratory data were obtained from hospitalization data. Patients were divided into SBI and Non-SBI groups based on clinical and neuroimaging data. We use Cohen's Kappa to assess the interrater reliability between the two evaluators, and multivariate logistic regression analysis was used to further assess the association between SBI, HT and clinical outcomes at 3 months after IVT. Results: Of the 541 patients, 231 (46.1%) had SBI, 49 (9.1%) had HT, 438 (81%) had favorable outcome, 361 (66.7%) had excellent outcome. There was no significant difference in the incidence of HT (8.2 vs. 9.7%, p = 0.560) and favorable outcome (78.4% vs. 82.9%, p = 0.183) between patients with SBI and Non-SBI. However, patients with SBI had a lower incidence of excellent outcome than the patients with Non-SBI (60.2% vs. 71.6%%, p = 0.005). After adjustment for major covariates, multivariate logistic regression analysis disclosed that SBI was independently associated with the increased risk of worse outcome (OR = 1.922, 95%CI: 1.229-3.006, p = 0.004). Conclusion: We found that SBI was no effect for HT after thrombolysis in ischemic stroke patients, and no effect on favorable functional outcome at 3 months. Nevertheless, SBI remained an independent risk factor for non-excellent functional outcomes at 3 months.