102 research outputs found

    Gut Bacterial Communities of Lymantria xylina and Their Associations with Host Development and Diet

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    The gut microbiota of insects has a wide range of effects on host nutrition, physiology, and behavior. The structure of gut microbiota may also be shaped by their environment, causing them to adjust to their hosts; thus, the objective of this study was to examine variations in the morphological traits and gut microbiota of Lymantria xylina in response to natural and artificial diets using high-throughput sequencing. Regarding morphology, the head widths for larvae fed on a sterilized artificial diet were smaller than for larvae fed on a non-sterilized host-plant diet in the early instars. The gut microbiota diversity of L. xylina fed on different diets varied significantly, but did not change during different development periods. This seemed to indicate that vertical inheritance occurred in L. xylina mutualistic symbionts. Acinetobacter and Enterococcus were dominant in/on eggs. In the first instar larvae, Acinetobacter accounted for 33.52% of the sterilized artificial diet treatment, while Enterococcus (67.88%) was the predominant bacteria for the non-sterilized host-plant diet treatment. Gut microbe structures were adapted to both diets through vertical inheritance and self-regulation. This study clarified the impacts of microbial symbiosis on L. xylina and might provide new possibilities for improving the control of these bacteria

    A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

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    BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism in humans. As very rare diseases, the clinical features require further clarification.MethodsA male Chinese patient who mainly presented with hypermanganesemia and progressive parkinsonism–dystonia was recruited for this study. We collected and analyzed clinical information, performed whole-exome sequencing (WES), and reviewed the relevant literature.ResultsThe motor-developmental milestones of the patient were delayed at the age of 4 months, followed by rapidly progressive dystonia. The patient displayed elevated Mn concentrations in blood and urine, and brain magnetic resonance imaging (MRI) showed symmetrical hyperintensity on T1-weighted images and hypointensity on T2-weighted images in multiple regions. A novel homozygous variant of the SLC39A14 gene (c.1058T > G, p.L353R) was identified. The patient was treated with disodium calcium edetate chelation (Na2CaEDTA). Three months later, mild improvement in clinical manifestation, blood Mn levels, and brain MRI was observed. To date, 15 patients from 10 families have been reported with homozygous mutations of SLC39A14, with a mean age of onset of 14.9 months. The common initial symptom is motor regression or developmental milestone delay, with a disease course for nearly all patients involving development of progressive generalized dystonia and loss of ambulation before treatment. Additionally, hypermanganesemia manifests as Mn values ranging from 4- to 25-fold higher than normal baseline levels, along with brain MRI results similar to those observed in the recruited patient. Nine SLC39A14 variants have been identified. Seven patients have been treated with Na2CaEDTA, and only one patient achieved obvious clinical improvement.ConclusionWe identified a novel SLC39A14 mutation related to autosomal recessive hypermanganesemia with dystonia-2, which is a very rare disease. Patients present motor regression or delay of developmental milestones and develop progressive generalized dystonia. Chelation therapy with Na2CaEDTA appears to effectively chelate Mn and increase urinary Mn excretion in some cases; however, clinical response varies. The outcome of the disease was unsatisfactory. This study expands the genetic spectrum of this disease

    Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities

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    Fetal chromosomal abnormalities are the main cause of adverse pregnancy outcomes and are the focus of invasive prenatal diagnosis. Recent studies have demonstrated that various techniques have distinct advantages. Achieving high-resolution and effective prenatal chromosomal abnormality diagnosis requires a multi-technology integration strategy. Based on retrospective samples from a single center, we propose that integrating CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities. In this study, 13.80% of the pregnant women (347/2514) were found to have likely pathogenic or pathogenic fetal chromosomal abnormalities using this integrated approach. Among these cases, 53.89% (187/347) had consistent chromosomal abnormalities detected by both CNV-seq and karyotyping analysis, while 19.02% (66/347) and 27.09% (94/347) of cases were diagnosed solely by CNV-seq or karyotyping, respectively. Fetal chromosomal abnormalities were identified in 18.39% of samples with abnormal ultrasound, which was significantly higher than the percentage found in samples with normal ultrasound (p < 0.001). Samples with multiple ultrasound abnormalities and single-indicator ultrasound abnormalities such as nasal bone dysplasia, renal dysplasia, or echogenic fetal bowel also had higher rates of chromosomal abnormalities (p < 0.05) compared to normal samples. Analyzing samples with Trio family data (N = 521) revealed that about 94% of variants of uncertain significance were inherited from parents and were non-pathogenic. Overall, integrating CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities. This study provides valuable insights for correlating prenatal screening indicators with chromosomal abnormalities

    Whole-genome sequencing of <em>Oryza brachyantha</em> reveals mechanisms underlying <em>Oryza</em> genome evolution

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    The wild species of the genus Oryza contain a largely untapped reservoir of agronomically important genes for rice improvement. Here we report the 261-Mb de novo assembled genome sequence of Oryza brachyantha. Low activity of long-terminal repeat retrotransposons and massive internal deletions of ancient long-terminal repeat elements lead to the compact genome of Oryza brachyantha. We model 32,038 protein-coding genes in the Oryza brachyantha genome, of which only 70% are located in collinear positions in comparison with the rice genome. Analysing breakpoints of non-collinear genes suggests that double-strand break repair through non-homologous end joining has an important role in gene movement and erosion of collinearity in the Oryza genomes. Transition of euchromatin to heterochromatin in the rice genome is accompanied by segmental and tandem duplications, further expanded by transposable element insertions. The high-quality reference genome sequence of Oryza brachyantha provides an important resource for functional and evolutionary studies in the genus Oryza

    Ubiquitin-Proteasome-Collagen (CUP) Pathway in Preterm Premature Rupture of Fetal Membranes

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    Spontaneous preterm birth (sPTB) occurs before 37 gestational weeks, with preterm premature rupture of the membranes (PPROM) and spontaneous preterm labor (sPTL) as the predominant adverse outcomes. Previously, we identified altered expression of long non-coding RNAs (lncRNAs) and message RNAs (mRNAs) related to the ubiquitin proteasome system (UPS) in human placentas following pregnancy loss and PTB. We therefore hypothesized that similar mechanisms might underlie PPROM. In the current study, nine pairs of ubiquitin-proteasome-collagen (CUP) pathway–related mRNAs and associated lncRNAs were found to be differentially expressed in PPROM and sPTL. Pathway analysis showed that the functions of their protein products were inter-connected by ring finger protein. Twenty variants including five mutations were identified in CUP-related genes in sPTL samples. Copy number variations were found in COL19A1, COL28A1, COL5A1, and UBAP2 of sPTL samples. The results reinforced our previous findings and indicated the association of the CUP pathway with the development of sPTL and PPROM. This association was due not only to the genetic variation, but also to the epigenetic regulatory function of lncRNAs. Furthermore, the findings suggested that the loss of collagen content in PPROM could result from degradation and/or suppressed expression of collagens

    High Influencing Pattern Discovery over Time Series Data

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    A spatial co-location pattern denotes a subset of spatial features whose instances frequently appear nearby. High influence co-location pattern mining is used to find co-location patterns with high influence in specific aspects. Studies of such pattern mining usually rely on spatial distance for measuring nearness between instances, a method that cannot be applied to an influence propagation process concluded from epidemic dispersal scenarios. To discover meaningful patterns by using fruitful results in this field, we extend existing approaches and propose a mining framework. We first defined a new concept of proximity to depict semantic nearness between instances of distinct features, thus applying a star-shaped materialized model to mine influencing patterns. Then, we designed attribute descriptors to perceive attributes of instances and edges from time series data, and we calculated the attribute weights via an analytic hierarchy process, thereby computing the influence between instances and the influence of features in influencing patterns. Next, we constructed influencing metrics and set a threshold to discover high influencing patterns. Since the metrics do not satisfy the downward closure property, we propose two improved algorithms to boost efficiency. Extensive experiments conducted on real and synthetic datasets verified the effectiveness, efficiency, and scalability of our method

    CT findings of pulmonary infection in patients with endotracheal intubation and mechanical ventilation

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    Purpose: To estimate the CT findings of clinically confirmed pulmonary infection in patients with endotracheal intubation and mechanical ventilation. Materials and methods: This retrospective study enrolled 48 intubated adult patients with clinically confirmed pulmonary infection and CT examination after intubation in our hospital. Patients were further divided into two groups according to the risk of aspiration. Difference in clinical characters and imaging manifestations were compared between the two groups. Results: The most common CT findings of pulmonary infection in intubated patients were GGO (93.8%) and consolidation (89.6%), followed by lung nodule (56.3%), pleural effusion (56.3%), thickened bronchial wall (50.0%), small airway disease (45.8%), lymphadenopathy (39.6%) and atelectasis (33.3%), but cavity (14.6%) and bronchiectasis (8.3%) were less common. The semi-quantitative scoring results showed significantly higher extent of lung lesions in gravity dependent region for patients in high-risk aspiration group. However, no significant difference was found in low-risk aspiration group. The difference in frequency of cross sectional distribution patterns between gravity dependent and independent region was also statistically significant for patients in high-risk aspiration group, but not in low risk aspiration group. Conclusions: CT has advantage in assessment of lesions type, gravity dependent and cross sectional distribution of pneumonia in intubated patients

    CH<sub>3</sub>NH<sub>3</sub>PbI<sub>3</sub>/Au/Mg<sub>0.2</sub>Zn<sub>0.8</sub>O Heterojunction Self-Powered Photodetectors with Suppressed Dark Current and Enhanced Detectivity

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    Interface engineering of the hole transport layer in CH3NH3PbI3 photodetectors has resulted in significantly increased carrier accumulation and dark current as well as energy band mismatch, thus achieving the goal of high-power conversion efficiency. However, the reported heterojunction perovskite photodetectors exhibit high dark currents and low responsivities. Herein, heterojunction self-powered photodetectors, composed of p-type CH3NH3PbI3 and n-type Mg0.2Zn0.8O, are prepared through the spin coating and magnetron sputtering. The obtained heterojunctions exhibit a high responsivity of 0.58 A/W, and the EQE of the CH3NH3PbI3/Au/Mg0.2Zn0.8O heterojunction self-powered photodetectors is 10.23 times that of the CH3NH3PbI3/Au photodetectors and 84.51 times that of the Mg0.2ZnO0.8/Au photodetectors. The built-in electric field of the p-n heterojunction significantly suppresses the dark current and improves the responsivity. Remarkably, in the self-supply voltage detection mode, the heterojunction achieves a high responsivity of up to 1.1 mA/W. The dark current of the CH3NH3PbI3/Au/Mg0.2Zn0.8O heterojunction self-powered photodetectors is less than 1.4 × 10−1 pA at 0 V, which is more than 10 times lower than that of the CH3NH3PbI3 photodetectors. The best value of the detectivity is as high as 4.7 × 1012 Jones. Furthermore, the heterojunction self-powered photodetectors exhibit a uniform photodetection response over a wide spectral range from 200 to 850 nm. This work provides guidance for achieving a low dark current and high detectivity for perovskite photodetectors
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