[Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS].

OBJECTIVE: To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis. METHODS: A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq). RESULTS: The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord. CONCLUSION: The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.

Tapping into Permutation Symmetry for Improved Detection of k-Symmetric Extensions.

Symmetric extensions are essential in quantum mechanics, providing a lens through which to investigate the correlations of entangled quantum systems and to address challenges like the quantum marginal problem. Though semi-definite programming (SDP) is a recognized method for handling symmetric extensions, it struggles with computational constraints, especially due to the large real parameters in generalized qudit systems. In this study, we introduce an approach that adeptly leverages permutation symmetry. By fine-tuning the SDP problem for detecting k-symmetric extensions, our method markedly diminishes the searching space dimensionality and trims the number of parameters essential for positive-definiteness tests. This leads to an algorithmic enhancement, reducing the complexity from O(d2k) to O(kd2) in the qudit k-symmetric extension scenario. Additionally, our approach streamlines the process of verifying the positive definiteness of the results. These advancements pave the way for deeper insights into quantum correlations, highlighting potential avenues for refined research and innovations in quantum information theory.

Molecular diagnosis of hereditary deafness and application of stepwise testing strategy.

Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic methods include gene chip, Sanger sequencing, targeted enrichment sequencing, and whole-exome sequencing, with diagnosis rates reaching 33.5%-56.67%. However, there are still a considerable number of patients who can not get a timely and definitive molecular diagnosis. Furthermore, considering the economic burden on patients' families and the relatively high cost of whole-exome or whole-genome sequencing, it is vital to provide stepwise strategies combining multiple detection methods according to the phenotypes of patients. In this review, we evaluate and discuss the utility of molecular diagnosis and the application of stepwise testing strategies in hereditary deafness to provide reference for the selection of diagnostic strategies.

Characterization and mutagenesis of a novel Mycobacterium smegmatis-derived glutamate decarboxylase active at neutral pH.

γ-aminobutyric acid (GABA) has various physiological functions and is widely used in medicine, food, and other fields. Glutamate decarboxylase (GAD) is a key enzyme that catalyzes the decarboxylation of L-glutamate to synthesize GABA. However, the industrial application of microorganism-derived GAD is limited by its rapid loss of enzymatic activity with pH approaching neutrality. In this study, a novel glutamate decarboxylase, GADMSM, from Mycobacterium smegmatis was overexpressed and purified. On the basis of homologous modeling and substrate molecular docking, several GADMSM mutants were constructed, and their enzymatic properties were analyzed. The results showed that the optimal pH of wild-type GADMSM is 5.4; at pH 6.2, 22.8% enzymatic activity was retained. The T211I replacement in GAD and C-terminal deletion mutant GADMSMΔC showed relatively high catalytic activity in a pH range of 5.0-7.0. The Vmax and Km values of GADMSMΔC were 14.69 and 5.70, respectively, at pH 5.5, and 9.87 and 6.17, respectively, at pH 7.0. Compared with the wild-type GAD, GADMSMΔC maintained higher affinity and enzymatic activity of the substrate, maintaining 78.5% of the highest enzymatic activity even at pH 7.0, which is the highest reported activity retention for GAD under neutral pH condition. Therefore, GADMSMΔC can be used for the transformation of high-yielding strains and industrial production of GABA.

Observing Geometry of Quantum States in a Three-Level System.

In quantum mechanics, geometry has been demonstrated as a useful tool for inferring nonclassical behaviors and exotic properties of quantum systems. One standard approach to illustrate the geometry of quantum systems is to project the quantum state space onto the Euclidean space via measurements of observables on the system. Despite the great success of this method in studying two-level quantum systems (qubits) with the celebrated Bloch sphere representation, it is still difficult to reveal the geometry of multidimensional quantum systems. Here we report the first experiment measuring the geometry of such projections beyond the qubit. Specifically, we observe the joint numerical ranges of a triple of observables in a three-level photonic system, providing a complete classification of these ranges. We further show that the geometry of different classes reveals ground-state degeneracies of a Hamiltonian as a linear combination of the observables, which is related to quantum phases in the thermodynamic limit. Our results offer a versatile geometric approach for exploring the properties of higher-dimensional quantum systems.

Experimental Implementation of Efficient Quantum Pseudorandomness on a 12-Spin System.

Quantum pseudorandomness, also known as unitary designs, comprises a powerful resource for emergent quantum technologies. Although in theory pseudorandom unitary operators can be constructed efficiently, realizing these objects in realistic physical systems is a challenging task. Here, we demonstrate experimental generation and detection of quantum pseudorandomness on a 12-qubit nuclear magnetic resonance system. We first apply random sequences to the interacting nuclear spins, leading to random quantum evolutions that can quickly form unitary designs. Then, in order to probe the growth of quantum pseudorandomness during the time evolutions, we propose the idea of using the system's multiple-quantum coherence distribution as an indicator. Based on this indicator, we measure the spreading of quantum coherences and find that substantial quantum pseudorandomness has been achieved at the 12-qubit scale. This may open up a path to experimentally explore quantum randomness on forthcoming large-scale quantum processors.

Experimental Identification of Non-Abelian Topological Orders on a Quantum Simulator.

Topological orders can be used as media for topological quantum computing-a promising quantum computation model due to its invulnerability against local errors. Conversely, a quantum simulator, often regarded as a quantum computing device for special purposes, also offers a way of characterizing topological orders. Here, we show how to identify distinct topological orders via measuring their modular S and T matrices. In particular, we employ a nuclear magnetic resonance quantum simulator to study the properties of three topologically ordered matter phases described by the string-net model with two string types, including the Z_{2} toric code, doubled semion, and doubled Fibonacci. The third one, non-Abelian Fibonacci order is notably expected to be the simplest candidate for universal topological quantum computing. Our experiment serves as the basic module, built on which one can simulate braiding of non-Abelian anyons and ultimately, topological quantum computation via the braiding, and thus provides a new approach of investigating topological orders using quantum computers.

Quantum State Tomography via Reduced Density Matrices.

Quantum state tomography via local measurements is an efficient tool for characterizing quantum states. However, it requires that the original global state be uniquely determined (UD) by its local reduced density matrices (RDMs). In this work, we demonstrate for the first time a class of states that are UD by their RDMs under the assumption that the global state is pure, but fail to be UD in the absence of that assumption. This discovery allows us to classify quantum states according to their UD properties, with the requirement that each class be treated distinctly in the practice of simplifying quantum state tomography. Additionally, we experimentally test the feasibility and stability of performing quantum state tomography via the measurement of local RDMs for each class. These theoretical and experimental results demonstrate the advantages and possible pitfalls of quantum state tomography with local measurements.

Tomography is Necessary for Universal Entanglement Detection with Single-Copy Observables.

Entanglement, one of the central mysteries of quantum mechanics, plays an essential role in numerous tasks of quantum information science. A natural question of both theoretical and experimental importance is whether universal entanglement detection can be accomplished without full state tomography. In this Letter, we prove a no-go theorem that rules out this possibility for nonadaptive schemes that employ single-copy measurements only. We also examine a previously implemented experiment [H. Park et al., Phys. Rev. Lett. 105, 230404 (2010)], which claimed to detect entanglement of two-qubit states via adaptive single-copy measurements without full state tomography. In contrast, our simulation and experiment both support the opposite conclusion that the protocol, indeed, leads to full state tomography, which supplements our no-go theorem. These results reveal a fundamental limit of single-copy measurements in entanglement detection and provide a general framework of the detection of other interesting properties of quantum states, such as the positivity of partial transpose and the k-symmetric extendibility.

Facilitation of Sclerotinia sclerotiorum infestation by aphid feeding behaviour is not affected by aphid resistance in oilseed rape.

The relation between aphids and Sclerotinia stem rot (SSR) in oilseed rape is rarely examined because they are often studied alone. We have observed a significant correlation between the number of aphids and the occurrence of SSR in our field studies. Electropenetrography (EPG) was used to evaluate the effects of Brevicoryne brassicae (Linnaeus) on two oilseed rape cultivars while acquiring, vectoring and inoculating of Sclerotinia sclerotiorum Lib. (de Bary) ascospores. The results demonstrated that aphid feeding followed by the application of an ascospore suspension significantly increased S. sclerotiorum incidence. Aphids were capable of adhering to ascospores and carrying them to healthy plants, thereby causing diseases. The results of the EPG analysis indicated that aphid feeding behaviour was significantly altered in all leaf tissue levels following infection with S. sclerotiorum. Aphids initiated their first puncture significantly sooner than the control group, began probing mesophyll cells earlier, significantly increased the frequency of both short probes and intracellular punctures and had a significantly shorter pathway duration. On infected aphid-susceptible cultivars, aphids secreted more saliva but had reduced ingestion compared with aphids feeding on non-infected oilseed rape. In addition, ascospores can affect aphid feeding behaviour by adhering to aphids. Aphids carrying ascospores punctured cells earlier, with a significant increase in the frequency and duration of short probes and cell punctures, shortened pathway durations, increased salivation and reduced ingestion compared with aphids not carrying ascospores. On aphid-susceptible cultivars, aphids carrying ascospores delayed puncture onset, but on resistant cultivars, puncture onset was shortened. There is a correlation between aphids and S. sclerotiorum. The impact of S. sclerotiorum on aphid feeding behaviour is directional, favouring the spread of the fungus. This promotion does not appear to be altered by the aphid resistance of the cultivar.

Aphids May Facilitate the Spread of Sclerotinia Stem Rot in Oilseed Rape by Carrying and Depositing Ascospores.

Aphids and Sclerotinia stem rot in oilseed rape are often studied in isolation, and their relationship is rarely explored. Our field studies have revealed a significant positive correlation between the number of aphids and the incidence of Sclerotinia stem rot. Hence, starting with the colonizing stages of the two pests, Breveroryne brassicae was assessed for its potential to acquire, transmit, and inoculate Sclerotinia sclerotiorum by being sprayed with an ascospore suspension. Moreover, distinctions in aphid feeding behavior were examined between aphids on inoculated/uninoculated winter and spring oilseed rape plants or aphids, both with and without S. sclerotiorum ascospores, using electropenetrography (EPG). The results showed that aphid feeding followed by dropping ascospore suspension significantly increased the incidence of S. sclerotiorum. Ascospores were able to adhere to aphids and were carried by aphids to healthy plants, causing disease. The results of the EPG analysis indicated that aphid feeding behavior was significantly altered in all leaf tissue levels following infection with S. sclerotiorum. Specifically, aphids initiated their first puncture significantly sooner, began probing mesophyll cells earlier, had a significantly shorter pathway duration, and secreted saliva more frequently but reduced salivation prior to feeding and ingestion compared to aphids feeding on uninfected oilseed rape. Additionally, the feeding behavior of aphids carrying ascospores was markedly different from that of aphids not carrying ascospores, implying that ascospores directly influence aphid feeding behavior but that this influence appeared to be beneficial only for S. sclerotiorum infection. Aphids carrying ascospores started to puncture cells more quickly, with a significant increase in the frequency and duration of short probes and cell punctures, shortened pathway durations, and reduced salivation before feeding compared to aphids not carrying ascospores. It is clear that there is an interaction between aphids and S. sclerotiorum. The impact of S. sclerotiorum on aphid feeding behavior is directional, favoring the spread of the fungus.

Juvenile-onset motor neuron disease caused by novel mutations in ß-hexosaminidase.

A 12 year-old female presented with a seven-year history of progressive muscle weakness, atrophy, tremor and fasciculations. Cognition was normal. Rectal biopsy revealed intracellular storage material and biochemical testing indicated low hexosaminidase activity consistent with juvenile-onset G(M2)-gangliosidosis. Genetic evaluation revealed compound heterozygosity with two novel mutations in the hexosaminidase ß-subunit (c.512-3 C>A and c.1613+15_1613+18dup). Protein analysis was consistent with biochemical findings and indicated only a small portion of ß-subunits were properly processed. These results provide additional insight into juvenile-onset G(M2)-gangliosidoses and further expand the number of ß-hexosaminidase mutations associated with motor neuron disease.

Characteristics of vascular supply to uterine leiomyoma: an analysis of digital subtraction angiography imaging in 518 cases.

OBJECTIVES: To investigate the characteristics of the vascular supply to uterine leiomyomas based on digital subtraction angiography. METHODS: The feeding artery, vascularity of uterine leiomyoma and visualisation of the ovarian vessel network were studied in 518 patients undergoing uterine artery embolisation (UAE). Mean patient age was 38.97 ± 6.09 years (range, 22-54 years). The types of vascular supply were analysed by the vascular supply to the leimyoma and grades of vascularity by the degree of enhancement of the leimyoma compared with the myometrium. RESULTS: The blood supply of leiomyomas could not be classified in 3.28 % of patients. Blood was supplied solely by the uterine artery in 88.61 % of leiomyomas, 8.11 % of leiomyomas were partially fed by an ovarian artery, and 0.39 % by it exclusively. Leiomyoma blood supply was classified as unilateral predominant, bilateral balanced, single unilateral uterine artery and single ovarian artery in 36.48, 49.23, 10.62 and 0.39 % of cases respectively. Leiomyoma vascularity was classified as extremely hypervascular (8.69 %), hypervascular (46.14 %), isovascular (33.39 %) and hypovascular (11.78 %). CONCLUSIONS: Uterine leiomyomas supplied by both uterine arteries and with rich blood flow were seen in approximately 50 % of patients. However, close attention also should be given to the collateral circulation during UAE.

Inhibition of TGF-ß2-Induced Trabecular Meshwork Fibrosis by Pirfenidone.

Purpose: Trabecular meshwork (TM) fibrosis is a crucial pathophysiological process in the development of primary open-angle glaucoma. Pirfenidone (PFD) is a new, broad-spectrum antifibrotic agent approved for the treatment of idiopathic pulmonary fibrosis. This study investigated the inhibitory effect of PFD on TM fibrosis and evaluated its efficacy in lowering intraocular pressure (IOP). Methods: Human TM cells were isolated, cultured, and characterized. Cell Counting Kit-8 was used to evaluate the proliferation and toxicity of different concentrations of PFD on normal or fibrotic TM cells. TM cells were treated with transforming growth factor beta-2 (TGF-ß2) in the absence or presence of PFD. Western blotting and immunofluorescence analyses were used to analyze changes in the TM cell cytoskeleton and extracellular matrix (ECM) proteins, including alpha-smooth muscle actin (α-SMA), F-actin, collagen IV (COL IV), and fibronectin (FN). An ocular hypertension (OHT) mouse model was induced with Ad-TGF-ß2C226/228S and then treated with PFD or latanoprost (LT) eye drops to confirm the efficacy of PFD in lowering IOP. Results: PFD inhibited the proliferation of fibrotic TM cells in a dose-dependent manner and inhibited TGF-ß2-induced overexpression of α-SMA, COL IV, and FN in TM cells. PFD stabilized F-actin. In vivo, PFD eye drops reduced the IOP of the OHT models and showed no significant difference compared with LT eye drops. Conclusions: PFD inhibited TGF-ß2-induced TM cell fibrosis by rearranging the disordered cytoskeleton and decreasing ECM deposition, thereby enhancing the aqueous outflow from the TM outflow pathway and lowering IOP, which provides a potential new approach to treating glaucoma. Translational Relevance: Our work with pirfenidone provides a new approach to treat glaucoma.

Aphids on Aphid-Susceptible Cultivars Have Easy Access to Turnip Mosaic Virus, and Effective Inoculation on Aphid-Resistant Cultivars of Oilseed Rape (Brassica napus).

Plant viruses improve transmission efficiency by directly and indirectly influencing vector behavior, but the impact of plant cultivars on these modifications is rarely studied. Using electropenetrography (EPG) technology, a comparative study of the effects of turnip mosaic virus (TuMV) infection on quantitative probing behaviors of the cabbage aphid (Brevicoryne brassicae) was conducted on two oilseed rape cultivars ('Deleyou6' and 'Zhongshuang11'). Compared to mock-inoculated plants, cabbage aphids on infected plants increased the frequency of brief probing, cell penetration, and salivation. Additionally, aphids on infected 'Deleyou6' prolonged cell penetration time and decreased ingestion, but not on infected 'Zhongshuang11', suggesting that aphids were more likely to acquire and vector TuMV on the aphid-susceptible cultivar 'Deleyou6' than on resistant cultivars. TuMV also affected aphid probing behavior directly. Viruliferous aphids reduced the pathway duration, secreted more saliva, and ingested less sap than non-viruliferous aphids. In comparison with non-viruliferous aphids, viruliferous aphids started the first probe earlier and increased brief probing and cell penetration frequencies on the aphid-resistant cultivar 'Zhongshuang11'. Based on these observations, viruliferous aphids can be inoculated with TuMV more efficiently on 'Zhongshuang11' than on 'Deleyou6'. Although aphid resistance and TuMV infection may influence aphid probing behavior, oilseed rape resistance to aphids does not impede TuMV transmission effectively.

Dynamics of Microbial Community Structure, Function and Assembly Mechanism with Increasing Stand Age of Slash Pine (Pinus elliottii) Plantations in Houtian Sandy Area, South China.

Establishing slash pine plantations is the primary method for restoring sandification land in the Houtian area of South China. However, the microbial variation pattern with increasing stand age remains unclear. In this study, we investigated microbial community structure and function in bare sandy land and four stand age gradients, exploring ecological processes that determine their assembly. We did not observe a significant increase in the absolute abundance of bacteria or fungi with stand age. Bacterial communities were dominated by Chloroflexi, Actinobacteria, Proteobacteria, and Acidobacteria; the relative abundance of Chloroflexi significantly declined while Proteobacteria and Acidobacteria significantly increased with stand age. Fungal communities showed succession at the genus level, with Pisolithus most abundant in soils of younger stands (1- and 6-year-old). Turnover of fungal communities was primarily driven by stochastic processes; both deterministic and stochastic processes influenced the assembly of bacterial communities, with the relative importance of stochastic processes gradually increasing with stand age. Bacterial and fungal communities showed the strongest correlation with the diameter at breast height, followed by soil available phosphorus and water content. Notably, there was a significant increase in the relative abundance of functional groups involved in nitrogen fixation and uptake as stand age increased. Overall, this study highlights the important effects of slash pine stand age on microbial communities in sandy lands and suggests attention to the nitrogen and phosphorus requirements of slash pine plantations in the later stages of sandy management.

Food waste anaerobic biogas slurry as fertilizer: Potential salinization on different soil layer and effect on rhizobacteria community.

Biogas slurry(BS) from food waste anaerobic fermentation coexisted a lot of salinity that could damage soil and crops health. So, this study was to explore the effect of the application of biogas slurry on soil salinization in 1 âˆ¼ 4 cm, 4-6 cm and 6 âˆ¼ 8 cm soil layers every 10 days, Chinese cabbage growth and rhizobacteria. The results indicated that ≤ 10% concentration of biogas slurry was uninjurious for soil and plant, the dry weight growth rate was 73.7% compared with CK, long term application should be further evaluated the potential risk of salinity on underground water and human health. As for high concentration of biogas slurry ≥ 10% concentration of biogas slurry could inhibit the seed germination and root elongation, and the germination percentage was declined from 87.6% to 2.4%, but 50% and 100% concentration of biogas slurry showed a promotion of crop growth because of sufficient nutrition. However, the potential accumulation of salinity could be seen in high concentration of biogas slurry for long term application especially in top1-4 cm soil. Correlation analysis showed that Cl- was the main factor resulting high EC in all soil layers. 16S rRNA sequencing showed that UCG-004, Ketobacter, Sphingopyxis and RB41 could be regard as the indicators for determining the potential jeopardize on soil environmental by high salinity from biogas slurry.

Probing the antioxidant activity of functional proteins and bioactive peptides in Hermetia illucens larvae fed with food wastes.

Food waste is becoming more prevalent, and managing it is one of the most important issues in terms of food safety. In this study, functional proteins and bioactive peptides produced from the enzymatic digestion of black soldier fly (Hermetia illucens L., BSF) fed with food wastes were characterized and quantified using proteomics-based analysis. The results revealed approximately 78 peptides and 57 proteins, including 40S ribosomal protein S4, 60S ribosomal protein L8, ATP synthase subunit alpha, ribosomal protein S3, Histone H2A, NADP-glutamate dehydrogenase, Fumarate hydratase, RNA helicase, Chitin binding Peritrophin-A, Lectin C-type protein, etc. were found in BSF. Furthermore, functional analysis of the proteins revealed that the 60S ribosomal protein L5 (RpL5) in BSF interacted with a variety of ribosomal proteins and played a key role in the glycolytic process (AT14039p). Higher antioxidant activity was found in peptide sequences such as GYGFGGGAGCLSMDTGAHLNR, VVPSANRAMVGIVAGGGRIDKPILK, AGLQFPVGR, GFKDQIQDVFK, and GFKDQIQDVFK. It was concluded that the bioconversion of food wastes by BSF brought about the generation of a variety of functional proteins and bioactive peptides with strong antioxidant activity. However, more studies are required to exploit BSF's potential in the value addition of food wastes.

Identification of male and female pupal characteristics of Zeugodacus cucurbitae (Coquillett) via machine vision.

Images of original pupae of Zeugodacus cucurbitae (Coquillett) were normalized, grayed, and segmented to identify male and female pupae of this species via machine vision. The image of each pupa was divided into 25 small areas. The differences in surface texture features in each small area within 11 days were compared. The texture characteristics of both male and female pupae were screened by combining the eclosion of both sexes of Z. cucurbitae (Coquillett). Results indicated that the pectinate setae on the abdominal backplane could be used as a basis for the identification of the male and female pupa of Z. cucurbitae (Coquillett). Moreover, machine vision correctly identified these characteristics with an accuracy of 96.0%. This study lays a foundation for the identification of male and female pupae using machine vision and also for the comprehensive control of Z. cucurbitae (Coquillett).

Food Waste Management Employing UV-Induced Black Soldier Flies: Metabolomic Analysis of Bioactive Components, Antioxidant Properties, and Antibacterial Potential.

Food waste, as a major part of municipal solid waste, has been increasingly generated worldwide. Efficient and feasible utilization of this waste material for biomanufacturing is crucial to improving economic and environmental sustainability. In the present study, black soldier flies (BSF) larvae were used as carriers to treat and upcycle food waste. Larvae of the BSF were incubated with UV light for 10, 20, and 30 min at a wavelength of 257.3 nm and an intensity of 8 W. The food waste utilization efficiency, antioxidant assays, antibacterial activity, and bioactive metabolites without and with UV treatment were determined and compared. Results showed that the BSF larvae feed utilization rate was around 75.6%, 77.7%, and 71.2% after UV treatment for 10, 20, and 30 min respectively, contrasting with the non-UV induced group (73.7%). In addition, it was perceived that the UV exposure enhanced antioxidant and antimicrobial properties of BSF extracts, and the maximum values were observed after 20 min UV induction time. Moreover, UV-induced BSF extracts showed an improved metabolic profile than the control group, with a change in the amino acids, peptides, organic acids, lipids, organic oxides, and other derivatives. This change in metabolomics profile boosted environmental signaling, degradation of starch, amino acids, sugars, and peptide metabolism. It was concluded that the bioconversion of food wastes using UV-induced BSF larvae can enhance the generation of a variety of functional proteins and bioactive compounds with potent antioxidant and antimicrobial activity. However, more studies are required to exploit the efficiency of UV treatment in improving BSF's potential for upcycling of food wastes.