Scavenger Receptor Class B Type I Modulates Epileptic Seizures and Receptor α2δ-1 Expression.

Scavenger receptor class B type I (SR-BI) is abundant in adult mouse and human brains, but its function in the central nervous system (CNS) remains unclear. This study explored the role of SR-BI in epilepsy and its possible underlying mechanism. Expression patterns of SR-BI in the brains of mice with kainic acid (KA)-induced epilepsy were detected using immunofluorescence staining, quantitative real-time polymerase chain reaction (qPCR), and Western blotting(WB). Behavioral analysis was performed by 24-hour video monitoring and hippocampal local field potential (LFP) recordings were employed to verify the role of SR-BI in epileptogenesis. RNA sequencing (RNA-seq) was used to obtain biological information on SR-BI in the CNS. WB, qPCR, and co-immunoprecipitation (Co-IP) were performed to identify the relationship between SR-BI and the gabapentin receptor α2δ-1.The results showed that SR-BI was primarily co-localized with astrocytes and its expression was down-regulated in the hippocampus of KA mice. Notably, overexpressing SR-BI alleviated the epileptic behavioral phenotype in KA mice. Hippocampal transcriptomic analysis revealed 1043 differentially expressed genes (DEGs) in the SR-BI-overexpressing group. Most DEGs confirmed by RNA-seq analysis were associated with synapses, neuronal projections, neuron development, and ion binding. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis demonstrated that the DEGs were enriched in the glutamatergic synapse pathway. Furthermore, the gabapentin receptor α2δ-1 decreased with SR-BI overexpression in epileptic mice. Overall, these findings highlight the important role of SR-BI in regulating epileptogenesis and that the gabapentin receptor α2δ-1 is a potential downstream target of SR-BI.

Genome-wide identification, evolution, and expression analysis of carbonic anhydrases genes in soybean (Glycine max).

Carbonic anhydrases (CAs), as zinc metalloenzymes, are ubiquitous in nature and play essential roles in diverse biological processes. Although CAs have been broadly explored and studied, comprehensive characteristics of CA gene family members in the soybean (Glycine max) are still lacking. A total of 35 CA genes (GmCAs) were identified; they distributed on sixteen chromosomes of the soybean genome and can be divided into three subfamilies (α-type, ß-type, and γ-type). Bioinformatics analysis showed that the specific GmCA gene subfamily or clade exhibited similar characteristics and that segmental duplications took the major role in generating new GmCAs. Furthermore, the synteny and evolutionary constraints analyses of CAs among soybean and distinct species provided more detailed evidence for GmCA gene family evolution. Cis-element analysis of promoter indicated that GmCAs may be responsive to abiotic stress and regulate photosynthesis. Moreover, the expression patterns of GmCAs varied in different tissues at diverse developmental stages in soybean. Additionally, we found that eight representative GmCAs may be involved in the response of soybean to low phosphorus stress. The systematic investigation of the GmCA gene family in this study will provide a valuable basis for further functional research on soybean CA genes.

Genome-wide analysis of long non-coding RNAs (lncRNAs) in two contrasting soybean genotypes subjected to phosphate starvation.

BACKGROUND: Phosphorus (P) is essential for plant growth and development, and low-phosphorus (LP) stress is a major factor limiting the growth and yield of soybean. Long noncoding RNAs (lncRNAs) have recently been reported to be key regulators in the responses of plants to stress conditions, but the mechanism through which LP stress mediates the biogenesis of lncRNAs in soybean remains unclear. RESULTS: In this study, to explore the response mechanisms of lncRNAs to LP stress, we used the roots of two representative soybean genotypes that present opposite responses to P deficiency, namely, a P-sensitive genotype (Bogao) and a P-tolerant genotype (NN94156), for the construction of RNA sequencing (RNA-seq) libraries. In total, 4,166 novel lncRNAs, including 525 differentially expressed (DE) lncRNAs, were identified from the two genotypes at different P levels. GO and KEGG analyses indicated that numerous DE lncRNAs might be involved in diverse biological processes related to phosphate, such as lipid metabolic processes, catalytic activity, cell membrane formation, signal transduction, and nitrogen fixation. Moreover, lncRNA-mRNA-miRNA and lncRNA-mRNA networks were constructed, and the results identified several promising lncRNAs that might be highly valuable for further analysis of the mechanism underlying the response of soybean to LP stress. CONCLUSIONS: These results revealed that LP stress can significantly alter the genome-wide profiles of lncRNAs, particularly those of the P-sensitive genotype Bogao. Our findings increase the understanding of and provide new insights into the function of lncRNAs in the responses of soybean to P stress.

QTL mapping of the genetic basis of stem diameter in soybean.

MAIN CONCLUSION: QTL mapping of stem diameter was carried out in three RIL populations using a high-density genetic map, and candidate genes related to stem diameter were predicted. Stem diameter is an important agronomic trait affecting soybean lodging and productivity. However, this trait is underexploited, and the underlying genetic mechanism in soybean remains unclear. In this study, three recombinant inbred line (RIL) populations, including 156 F10 lines from Nannong 94-156 × Bogao (N × B), 127 F9 lines from Dongnong 50 × Williams 82 (D × W), and 146 F9 lines from Suinong 14 × Enrei (S × E), were used to identify QTLs for soybean stem diameter across multiple environments. Phenotype analysis revealed that stem diameter exhibited strong positive correlations with plant height and 100-seed weight, two of the most important yield components. A total of 12 QTLs for stem diameter were identified on eight chromosomes across three RIL populations and five environments. The most influential QTL that was stably identified across all the populations and environments, q11, explained 12.58-26.63% of the phenotypic variation. Detection of several environment-specific QTLs, including q14, q16, and q20, suggests that environments may also have important effects in shaping the natural variation in soybean stem diameter. Furthermore, we predicted candidate genes underlying the QTLs and found that several promising candidate genes may be responsible for the variation in stem diameter in soybean. Overall, the markers/genes linked closely or underlying the major QTLs may be used for marker-assisted selection of soybean varieties to enhance lodging resistance and even yield. Our results lay the foundation for the fine mapping of stem development-related genes to reveal the molecular mechanisms.

A Ricin B-Like Lectin Protein Physically Interacts with TaPFT and Is Involved in Resistance to Fusarium Head Blight in Wheat.

Fusarium head blight (FHB), mainly caused by Fusarium graminearum, has become one of the most serious diseases that damage wheat. The TaPFT (pore-forming toxin-like) and TaHRC (histidine-rich calcium-binding protein) genes at the quantitative trait locus Fhb1 were identified to confer resistance to FHB in the wheat cultivar Sumai 3. In this study, a wheat ricin B-like lectin gene (designated TaRBL) that interacted with TaPFT was isolated by a yeast two-hybrid screen of a wheat cDNA library. A yeast two-hybrid and bimolecular fluorescence complementation study further verified that TaRBL interacted with TaPFT but not with TaHRC. Gene expression studies showed that upon F. graminearum infection, TaRBL expression was upregulated in resistant cultivars but downregulated in susceptible cultivars. Furthermore, knockdown of TaRBL expression by barley stripe mosaic virus-induced gene silencing significantly reduced the resistance of wheat to FHB in both the resistant cultivar Sumai 3 and the susceptible cultivar Jimai 22. Thus, we conclude that TaRBL encodes a ricin B-like lectin protein that interacts with TaPFT and is involved in resistance to FHB in wheat.

Identification of Soybean Seed Varieties Based on Hyperspectral Imaging Technology.

Hyperspectral imaging is a nondestructive testing technology that integrates spectroscopy and iconology technologies, which enables us to quickly obtain both internal and external information of objects and identify crop seed varieties. First, the hyperspectral images of ten soybean seed varieties were collected and the reflectance was obtained. Savitzky-Golay smoothing (SG), first derivative (FD), standard normal variate (SNV), fast Fourier transform (FFT), Hilbert transform (HT), and multiplicative scatter correction (MSC) spectral reflectance pretreatment methods were used. Then, the feature wavelengths and feature information of the pretreated spectral reflectance data were extracted using competitive adaptive reweighted sampling (CARS), the successive projections algorithm (SPA), and principal component analysis (PCA). Finally, 5 classifiers, Bayes, support vector machine (SVM), k-nearest neighbor (KNN), ensemble learning (EL), and artificial neural network (ANN), were used to identify seed varieties. The results showed that MSC-CARS-EL had the highest accuracy among the 90 combinations, with training set, test set, and 5-fold cross-validation accuracies of 100%, 100%, and 99.8%, respectively. Moreover, the contribution of spectral pretreatment to discrimination accuracy was higher than those of feature extraction and classifier selection. Pretreatment methods determined the range of the identification accuracy, feature-selective methods and classifiers only changed within this range. The experimental results provide a good reference for the identification of other crop seed varieties.

A Rapid and Highly Efficient Method for the Identification of Soybean Seed Varieties: Hyperspectral Images Combined with Transfer Learning.

Convolutional neural network (CNN) can be used to quickly identify crop seed varieties. 1200 seeds of ten soybean varieties were selected, hyperspectral images of both the front and the back of the seeds were collected, and the reflectance of soybean was derived from the hyperspectral images. A total of 9600 images were obtained after data augmentation, and the images were divided into a training set, validation set, and test set with a 3:1:1 ratio. Pretrained models (AlexNet, ResNet18, Xception, InceptionV3, DenseNet201, and NASNetLarge) after fine-tuning were used for transfer training. The optimal CNN model for soybean seed variety identification was selected. Furthermore, the traditional machine learning models for soybean seed variety identification were established by using reflectance as input. The results show that the six models all achieved 91% accuracy in the validation set and achieved accuracy values of 90.6%, 94.5%, 95.4%, 95.6%, 96.8%, and 97.2%, respectively, in the test set. This method is better than the identification of soybean seed varieties based on hyperspectral reflectance. The experimental results support a novel method for identifying soybean seeds rapidly and accurately, and this method also provides a good reference for the identification of other crop seeds.

Identifying the Pollution Characteristics of Atmospheric Polycyclic Aromatic Hydrocarbons Associated with Functional Districts in Ningbo, China.

Duplicate polyurethane foam based passive air samplers (PUF-PAS) were deployed at seven sites in Ningbo from November 1, 2014 to October 31, 2015 and were used to analyze 15 priority polycyclic aromatic hydrocarbons (PAHs). Higher benzo[a]pyrene toxic equivalent concentrations were observed in the industrial areas during wintertime. Correspondence analysis (CA) was used to characterize the PAH congener profiles associated with each functional district and their temporal variations. It showed that different PAH composition profiles and seasonal variations were observed in mountain, rural area and residential areas; and different industrial layouts also led to different properties of PAH congener emissions. Higher levels of PAHs were observed around oil refinery in summer and at mountainous areas in winter, which might be attributed to the evaporation of petroleum and the impact of local biomass burning. This study also demonstrated that the factors influencing the representativeness of a site could be more clearly understood using PUF-PAS and CA analysis.

Temporal variability of visibility and its parameterizations in Ningbo, China.

Simultaneous and continuous measurements of visibility, meteorological parameters and air pollutants were carried out at a suburban site in Ningbo from June 1, 2013 to May 31, 2015. The characteristics of visibility and their relationships with air pollutants and meteorological factors were investigated using multiple statistical methods. Daily visibility ranged from 0.6 to 34.1 km, with a mean value of 11.8 km. During the 2-year experiment, 43.4% of daily visibility was found to be less than 10.0 km and only 9.2% was greater than 20.0 km. Visibility was lower in winter with a frequency of 53.4% in the range of 0.0-5.0 km. Annual visibility had an obvious diurnal variation, with the lowest and highest visibility being 7.5 km at approximately 06:00 local time and 15.6 km at approximately 14:00 local time, respectively. Multiple correspondence analysis (MCA) indicated that the different ranges of visibility were significantly affected by different levels of pollutants and meteorological conditions. Based on the analyses, visibility was found to be an exponential function of PM2.5 concentrations within a certain range of relative humidity. Thus, non-linear models combining multiple linear regressions with exponential regression were subsequently developed using the data collected from June 2014 to May 2015, and the data from June 2013 to May 2014 was used to evaluate the performance of the model. It was demonstrated that the derived models can quantitatively describe the relationships between visibility, air quality and meteorological parameters in Ningbo.

An allometric model for mapping seed development in plants.

Despite a tremendous effort to map quantitative trait loci (QTLs) responsible for agriculturally and biologically important traits in plants, our understanding of how a QTL governs the developmental process of plant seeds remains elusive. In this article, we address this issue by describing a model for functional mapping of seed development through the incorporation of the relationship between vegetative and reproductive growth. The time difference of reproductive from vegetative growth is described by Reeve and Huxley's allometric equation. Thus, the implementation of this equation into the framework of functional mapping allows dynamic QTLs for seed development to be identified more precisely. By estimating and testing mathematical parameters that define Reeve and Huxley's allometric equations of seed growth, the dynamic pattern of the genetic effects of the QTLs identified can be analyzed. We used the model to analyze a soybean data, leading to the detection of QTLs that control the growth of seed dry weight. Three dynamic QTLs, located in two different linkage groups, were detected to affect growth curves of seed dry weight. The QTLs detected may be used to improve seed yield with marker-assisted selection by altering the pattern of seed development in a hope to achieve a maximum size of seeds at a harvest time.

Systems mapping: how to map genes for biomass allocation toward an ideotype.

The recent availability of high-throughput genetic and genomic data allows the genetic architecture of complex traits to be systematically mapped. The application of these genetic results to design and breed new crop types can be made possible through systems mapping. Systems mapping is a computational model that dissects a complex phenotype into its underlying components, coordinates different components in terms of biological laws through mathematical equations and maps specific genes that mediate each component and its connection with other components. Here, we present a new direction of systems mapping by integrating this tool with carbon economy. With an optimal spatial distribution of carbon fluxes between sources and sinks, plants tend to maximize whole-plant growth and competitive ability under limited availability of resources. We argue that such an economical strategy for plant growth and development, once integrated with systems mapping, will not only provide mechanistic insights into plant biology, but also help to spark a renaissance of interest in ideotype breeding in crops and trees.

Identification of the quantitative trait loci (QTL) underlying water soluble protein content in soybean.

Water soluble protein content (SPC) plays an important role in the functional efficacy of protein in food products. Therefore, for the identification of quantitative trait loci (QTL) associated with SPC, 212 F(2:9) lines of the recombinant inbred line (RIL) population derived from the cross of ZDD09454 × Yudou12 were grown along with the parents, in six different environments (location × year) to determine inheritance and map solubility-related genes. A linkage map comprising of 301 SSR markers covering 3,576.81 cM was constructed in the RIL population. Seed SPC was quantified with a macro-Kjeldahl procedure in samples collected over multiple years from three locations (Nantong in 2007 and 2008, Zhengzhou in 2007 and 2008, and Xinxiang in 2008 and 2009). SPC demonstrated transgressive segregation, indicating a complementary genetic structure between the parents. Eleven putative QTL were associated with SPC explaining 4.5-18.2 % of the observed phenotypic variation across the 6 year/location environments. Among these, two QTL (qsp8-4, qsp8-5) near GMENOD2B and Sat_215 showed an association with SPC in multiple environments, suggesting that they were key QTL related to protein solubility. The QTL × environment interaction demonstrated the complex genetic mechanism of SPC. These SPC-associated QTL and linked markers in soybean will provide important information that can be utilized by breeders to improve the functional quality of soybean varieties.

Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.

Background: Schaaf-Yang syndrome (SYS) is a recently identified rare neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulty, joint contractures, autism spectrum disorder and development delay/intellectual disability. It is mainly caused by truncating variants in maternally imprinted gene MAGEL2 within the Prader-Willi syndrome critical region 15q11-q13. Clinical diagnosis of SYS is difficult for clinicians due to its rarity and highly variable phenotypes, while unique inheritance patterns also complicate genetic diagnosis. To date, no published papers have analyzed the clinical consequences and molecular changes in Chinese patients. Methods: In this study, we retrospectively investigated the mutation spectrums and phenotypic features of 12 SYS infants. The data were from a cohort of critically ill infants from the China neonatal genomes project (CNGP), sponsored by Children's Hospital of Fudan University. We also reviewed relevant literature. Results: Six previously reported mutations and six novel pathogenic variations of MAGEL2 were identified in 12 unrelated infants. Neonatal respiratory problems were the major complaint for hospitalization, which occurred in 91.7% (11/12) cases. All babies displayed feeding difficulties and a poor suck postnatally, and neonatal dystonia was present in 11 of the cases; joint contractures and multiple congenital defects were also observed. Interestingly, we found that 42.5% (57/134) of the reported SYS patients, including ours carried variants in the c.1996 site, particularly the c.1996dupC variant. The mortality rate was 17.2% (23/134), with the median age of death between 24 gestational weeks in fetuses and 1-month-old in infants. Respiratory failure was the leading cause of death in live-born patients (58.8%, 10/17), especially during the neonatal period. Conclusions: Our findings expanded the genotype and phenotype spectrum of neonatal SYS patients. The results demonstrated that respiratory dysfunction was a typical characteristic among Chinese SYS neonates that should attract physicians' attention. The early identification of such disorders allows early intervention and can further provide genetic counseling as well as reproductive options for the affected families.

Intravenous Immunoglobulin Initiation in Patients with Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A US Claims-based Cohort Study.

INTRODUCTION: Intravenous immunoglobulin (IVIG) is recommended as first-line therapy for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), an immune-mediated neuropathy. The clinical profile of patients with CIDP newly initiating IVIG is poorly characterized. This claims-based cohort study describes characteristics of US patients with CIDP initiating IVIG treatment. METHODS: Adult immunoglobulin (IG)-naïve patients with CIDP diagnosed between 2008 and 2018 and a subgroup of patients subsequently initiating IVIG were identified in the Merative MarketScan Research Databases. Demographics, clinical characteristics, and diagnostic procedures were described for patients initiating IVIG. RESULTS: Of 32,090 patients with CIDP identified, 3975 (mean age 57 years) subsequently initiated IVIG. In the 6 months prior to IVIG initiation, diagnoses of comorbidities including neuropathy (75%), hypertension (62%), and diabetes (33%) were frequent, as were CIDP features/symptoms/markers of functional status including chronic pain (80%), difficulty walking (30%), and weakness (30%). CIDP-related laboratory/diagnostic procedures were performed in approximately 20- > 40% of patients in the 3 months prior to IVIG initiation (63.7% underwent electrodiagnostic/nerve conduction testing in the 6 months prior to IVIG initiation). Patient characteristics by initial IVIG product differed only in IVIG initiation year, US geographic region, and insurance type. Comorbidities, CIDP severity or functional status markers, and other clinical variables were generally well balanced across initial IVIG product groups. CONCLUSION: A heavy burden of symptoms, comorbidities, and diagnostic testing exists in patients with CIDP initiating IVIG. Characteristics of patients with CIDP initiating different IVIG products are well balanced, suggesting an absence of clinical or demographic determinants underlying IVIG selection.

Intravenous immunoglobulin, also called IVIG, involves giving antibodies through a drip into a vein. IVIG is recommended as one of the first treatments that patients receive if they have chronic inflammatory demyelinating polyradiculoneuropathy, also called CIDP, which is a rare disease that causes the body's immune system to attack its nerves. Our study described the characteristics of patients with CIDP who received IVIG in the USA. Information was collected from a large health insurance database and included records of patients aged ≥ 18 years who were diagnosed with CIDP between 2008 and 2018. Overall, 3975 patients with CIDP who received IVIG were included in the study. In the 6 months before starting IVIG, patients frequently had diagnoses of other diseases in addition to their CIDP; these included neuropathy (75% of patients), hypertension (62%), and diabetes (33%). CIDP features and symptoms that affected patients' daily lives were also frequently reported in these 6 months, including long-lasting pain (80%), difficulty walking (30%), and weakness (30%). In the 3 months before starting IVIG treatment, 20% to > 40% of patients underwent diagnostic procedures related to their CIDP. Different IVIG products were used similarly, but the year of IVIG initiation, geographic region, and insurance type all differed by IVIG product. In conclusion, patients with CIDP who receive IVIG experience a heavy burden caused by their symptoms, other diseases, and CIDP-related procedures. Patient characteristics were generally similar between patients receiving different IVIG products, suggesting that no specific characteristics are factored in when doctors select an IVIG product.

Intravenous Immunoglobulin Treatment Patterns and Outcomes in Patients with Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A US Claims Database Analysis.

INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare progressive or relapsing inflammatory disease. Intravenous immunoglobulin (IVIG) is recommended as a first-line therapy. The aim of this study was to describe real-world treatment patterns and outcomes of patients with CIDP in the Define initiating IVIG treatment. METHODS: This cohort study used health insurance claims data from the Merative MarketScan Research Databases (2008-2018). Adult patients (≥ 18 years old) with CIDP without prior immunoglobulin treatment were identified using International Statistical Classification of Diseases and Related Health Problems (ICD) codes, and patients subsequently initiating IVIG were included in the analysis. Real-world IVIG treatment patterns and treatment and safety outcomes (assessed via ICD codes) were described. RESULTS: In total, 3975 patients (median age 58 years) with CIDP who initiated IVIG were identified. After the initial IVIG loading period, patients received IVIG at a median dosing interval of 21 days (quartile [Q]1, Q3: 7, 28), and continued treatment for a median of 129 days (Q1, Q3: 85, 271). After the 2-year follow-up period, 55% of patients had discontinued all IVIG treatment; more than one-half of these discontinuations occurred within 4 months. Diagnoses of impaired functional status were evident in more than 30% of patients at baseline, but at lower rates during follow-up. Rates of new-onset safety outcomes after IVIG treatment were low. CONCLUSION: This real-world analysis of IVIG treatment patterns and treatment and safety outcomes of patients with CIDP who initiated IVIG highlights the unmet need for improved long-term management. Further research is needed to evaluate the use of functional status measures as endpoints for immunoglobulin treatment effectiveness.

Chronic inflammatory demyelinating polyradiculoneuropathy, also called CIDP, is a rare disease that causes the body's immune system to attack its nerves. Treatments for CIDP include antibodies, which are also called immunoglobulins. Immunoglobulins may be given intravenously, meaning they are administered into a vein. Intravenous immunoglobulin, also called IVIG, is recommended as one of the first treatments that patients with CIDP receive in their therapy and involves giving antibodies through a drip into a vein. This study aimed to gather information on the day-to-day use of IVIG by patients with CIDP. Information from 2008 to 2018 was collected from a large health insurance database in the USA. Information was taken from the records of patients aged 18 years or older who had received IVIG during the information collection period. In total, records from 3975 patients with an average age of 58 years were included in the study. On average, patients received IVIG every 21 days for 129 days. By 2 years, 55% of patients had stopped receiving IVIG; most of those patients had stopped within 4 months of first receiving the treatment. In the 6 months before receiving IVIG, over 30% of patients experienced limitations owing to their CIDP that affected their daily lives, although this percentage became smaller once patients started to receive IVIG. In addition, a low number of patients experienced side effects because of their IVIG treatment. This study highlights that improved long-term care for patients with CIDP is needed. Further research into ways of measuring the impact of CIDP on patients' daily lives is required, which may help doctors to work out how effective IVIG is at treating CIDP.

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Importance: A growing number of children are conceived with assisted reproductive technology (ART). However, there is a lack of studies systematically analyzing the genetic landscape of live-born children conceived through ART who need intensive care in the neonatal period. Objective: To investigate the incidence and type of molecular defects among neonates conceived through ART who are in intensive care units (NICUs) with suspected genetic conditions. Design, Setting, and Participants: This was a cross-sectional study using data from the China Neonatal Genomes Project, a multicenter national neonatal genome data set managed by the Children's Hospital of Fudan University. All participants were from level III and IV NICUs and included 535 neonates conceived through ART with suspected genetic conditions, with data collected between August 1, 2016, and December 31, 2021, and 1316 naturally conceived neonates with suspected genetic conditions in the same clinical settings, with data collected between August 1, 2016, and December 31, 2018. The data were analyzed between September 2021 and January 2023. Exposures: Whole-exome sequencing or target clinical exome sequencing with pathogenic or likely pathogenic single-nucleotide variant (SNV) and copy number variation (CNV) detection was performed for each individual. Main Outcomes and Measures: The primary outcome was the molecular diagnostic yield, mode of inheritance, spectrum of genetic events, and incidence of de novo variants. Results: A total of 535 neonates conceived through ART (319 boys [59.6%]) and 1316 naturally conceived neonates (772 boys [58.7%]) were included. A genetic diagnosis was established for 54 patients conceived through ART (10.1%), including 34 patients with SNVs (63.0%) and 20 with CNVs (37.0%). In the non-ART group, 174 patients (13.2%) received a genetic diagnosis, including 120 patients with SNVs (69.0%) and 54 with CNVs (31.0%). The overall diagnostic yield was comparable between the ART group and the naturally conceived neonates (10.1% vs 13.2%; odds ratio [OR], 0.74; 95% CI, 0.53-1.02), as was the proportion of SNVs (63.0% vs 69.0%; OR, 0.68; 95% CI, 0.46-1.00) and CNVs (37.0% vs 31.0%; OR, 0.91; 95% CI, 0.54-1.53) detected by sequencing. Furthermore, the proportions of de novo variants in the ART group and the non-ART group were similar (75.9% [41 of 54] vs 64.4% [112 of 174]; OR, 0.89; 95% CI, 0.62-1.30). Conclusions and Relevance: This cross-sectional study of neonates in NICUs suggests that the overall genetic diagnostic yield and the incidence of de novo variants were similar between live-born neonates conceived through ART and naturally conceived neonates in the same settings.

Probability of Response as Defined by a Clinical Decision Support Tool Is Associated With Lower Healthcare Resource Utilization in Vedolizumab-Treated Patients With Crohn's Disease.

Background: A previously developed clinical decision support tool (CDST) identified patients with Crohn's disease (CD) most likely to respond to vedolizumab. This study evaluated the ability of the CDST to predict real-world healthcare resource utilization (HRU). Methods: The Optum and Truven healthcare databases were searched for patients with CD treated with vedolizumab (Optum, n = 358; Truven, n = 1445) or an anti-tumor necrosis factor (TNF) agent (Optum, n = 814). Patients were stratified using the 5-variable (prior bowel surgery, prior fistulizing disease, prior anti-TNF exposure, albumin, C-reactive protein) and a new modified 3-variable (without laboratory data) CDST. Annualized expenditures and HRU were compared with both CDSTs across response probability groups for a 12-month period. Results: In the Optum data set, the 5- and 3-variable CDSTs identified lower rates of surgery or hospitalization in CD patients with higher probability of vedolizumab response. Per-patient total costs were 2.5 times lower for CD patients with high versus low probability of vedolizumab response ($12 943 vs $32 931). The 5- and 3-variable CDSTs did not consistently identify anti-TNF-treated CD patients with higher HRU. The 3-variable CDST also identified vedolizumab-treated CD patients with higher probability of response and lower probability for surgery or hospitalization in the Truven data set. Conclusions: The 5-variable CDST identified CD patients treated with vedolizumab, but not an anti-TNF agent, at higher risk for HRU. The 3-variable CDST offers similar performance but more flexibility by removing laboratory data requirements for prediction. These validated CDSTs can be integrated into population health monitoring algorithms using real-world data.

Physiological and omics analysis of maize inbred lines during late grain development.

BACKGROUND: There were significant differences in the change of moisture content and grain composition at the late stage of grain development among different maize varieties, but the regulation mechanism is not clear. OBJECTIVE: To explore the key genes causing the variation in physiological traits of two typical maize inbred lines in late grain development. METHODS: The grains at different development stages were selected as materials to determine the content of water, sucrose, starch and ABA. Transcriptomic and proteomic analysis of the materials were performed to screen relevant genes. RESULTS: The grain dehydration rate and the content of sucrose, starch and ABA were showed significant differences between two varieties in the late stage of grain development. The enrichment analysis of common differentially expressed genes (proteins) showed that most of the genes (proteins) were enriched in the extracellular region. The downregulated genes were mainly concentrated in carbohydrate metabolism and lipid metabolism, while the upregulated genes were mainly in response to stress. Furthermore, this study also identified many key candidate genes (dehydrin genes, pathogenesis-related genes, sucrose synthase and secondary metabolites related genes) related to late grain development of maize. CONCLUSIONS: The suggested genes related to late grain development of maize can be candidates for further functional study.

De novo assembly and characterization of the complete chloroplast genome of Elymus magellanicus (É.Desv.) Á.Löve, 1984 (Poaceae, Pooideae).

Elymus magellanicus (É.Desv.) Á.Löve is a foliage accent plant that originated in South America. In this study, the complete chloroplast genome of E. magellanicus is reported. It was found to have a total size of 133,249 bp. The chloroplast genome was found to consist of two inverted repeats (IRA and IRB) of 21,421 bp each, a small single-copy region of 12,709 bp, and a large single-copy region (77,698 bp). The annotation results show the GC content of the chloroplast genome to be 38.47%, including 40 tRNA genes, 82 protein-coding genes, and 8 rRNA genes. Phylogenetic analysis of 29 species revealed that E. magellanicus is closely related to E. arenarius.

Research progress of the POP fugacity model: a bibliometrics-based analysis.

With the emergence of environmental issues regarding persistent organic pollutants (POPs), fugacity models have been widely used in the concentration prediction and exposure assessment of POPs. Based on 778 relevant research articles published between 1979 and 2020 in the Web of Science Core Collection (WOSCC), the current research progress of the fugacity model on predicting the fate and transportation of POPs in the environment was analyzed by CiteSpace software. The results showed that the research subject has low interdisciplinarity, mainly involving environmental science and environmental engineering. The USA was the most paper-published country, followed by Canada and China. The publications of the Chinese Academy of Sciences, Lancaster University, and Environment Canada were leading. Collaboration between institutions was inactive and low intensity. Keyword co-occurrence analysis showed that polychlorinated biphenyls, organochlorine pesticides, and polycyclic aromatic hydrocarbons were the most concerning compounds, while air, water, soil, and sediment were the most concerning environmental media. Through co-citation cluster analysis, in addition to the in-depth exploration of traditional POPs, research on emerging POPs such as cyclic volatile methyl siloxane and dechlorane plus were new research frontiers. The distribution and transfer of POPs in the soil-air environment have attracted the most attention, and the regional grid model based on fugacity has been gradually improved and developed. The co-citation high-burst detection showed that the research hotspots gradually shifted from pollutant persistence and long-range transport potential to pollutant distribution rules among the different environmental media and the long-distance transmission simulation.