RESUMO
High-purity CO2 rather than dilute CO2 (15 vol %, CO2/N2/O2 = 15:80:5, v/v/v) similar to the flue gas is currently used as the feedstock for the electroreduction of CO2, and the liquid products are usually mixed up with the cathode electrolyte, resulting in high product separation costs. In this work, we showed that a microporous conductive Bi-based metal-organic framework (Bi-HHTP, HHTP = 2,3,6,7,10,11-hexahydroxytriphenylene) can not only efficiently capture CO2 from the dilute CO2 under high humidity but also catalyze the electroreduction of the adsorbed CO2 into formic acid with a high current density of 80 mA cm-2 and a Faradaic efficiency of 90% at a very low cell voltage of 2.6 V. Importantly, the performance in a dilute CO2 atmosphere was close to that under a high-purity CO2 atmosphere. This is the first catalyst that can maintain exceptional eCO2RR performance in the presence of both O2 and N2. Moreover, by using dilute CO2 as the feedstock, a 1 cm-2 working electrode coating with Bi-HHTP can continuously produce a 200 mM formic acid aqueous solution with a relative purity of 100% for at least 30 h in a membrane electrode assembly (MEA) electrolyzer. The product does not contain electrolytes, and such a highly concentrated and pure formic acid aqueous solution can be directly used as an electrolyte for formic acid fuel cells. Comprehensive studies revealed that such a high performance might be ascribed to the CO2 capture ability of the micropores on Bi-HHTP and the lower Gibbs free energy of formation of the key intermediate *OCHO on the open Bi sites.
RESUMO
Haplotype-based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single-gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting NIPD performance, including its accuracy and success rate, and their impact on clinical diagnostics to guide clinical practice. We conducted a prospective study, recruiting 219 proband families with singleton pregnancies at risk for eight recessive single-gene disorders (Duchenne muscular dystrophy, spinal muscular atrophy, phenylketonuria, methylmalonic acidemia, hemophilia A, hemophilia B, non-syndromic hearing loss, and congenital adrenal hyperplasia) at 7-14 weeks of gestation. Haplotype-based NIPD was performed by evaluating the relative haplotype dosage (RHDO) in maternal circulation, and the results were validated via invasive prenatal diagnosis or newborn follow-ups. Among the 219 families, the median gestational age at first blood draw was 8+5 weeks. Initial testing succeeded for 190 families and failed for 29 due to low fetal fraction (16), insufficient informative SNPs (9), and homologous recombination near pathogenic variation (4). Among low fetal fraction families, successful testing was achieved for 11 cases after a redraw, while 5 remained inconclusive. Test failures linked to insufficient informative SNPs correlated with linkage disequilibrium near the genes, with F8 and MMUT exhibiting the highest associated failure rates (14.3% and 25%, respectively). Homologous recombination was relatively frequent around the DMD and SMN1 genes (8.8% and 4.8%, respectively) but led to detection failure in only 44.4% (4/9) of such cases. All NIPD results from the 201 successful families were consistent with invasive diagnostic findings or newborn follow-up. Fetal fraction, informative SNPs count, and homologous recombination are pivotal to NIPD performance. Redrawing blood effectively improves the success rate for low fetal fraction samples. However, informative SNPs count and homologous recombination rates vary significantly across genes, necessitating careful consideration in clinical practice. We have designed an in silico method based on linkage disequilibrium data to predict the number of informative SNPs. This can identify genomic regions where there might be an insufficient number of SNPs, thereby guiding panel design. With these factors properly accounted for, NIPD is highly accurate and reliable.
Assuntos
Distrofia Muscular de Duchenne , Teste Pré-Natal não Invasivo , Gravidez , Feminino , Recém-Nascido , Humanos , Lactente , Teste Pré-Natal não Invasivo/métodos , Haplótipos/genética , Estudos Prospectivos , Diagnóstico Pré-Natal/métodos , Distrofia Muscular de Duchenne/diagnósticoRESUMO
The study is to explore the feasibility and value of SNP-based noninvasive prenatal diagnosis (NIPD) for facioscapulohumeral muscular dystrophy type 1 (FSHD1) in early pregnancy weeks. We prospectively collected seven FSHD1 families, with an average gestational age of 8+6. Among these seven couples, there were three affected FSHD1 mothers and four affected fathers. A multiplex-PCR panel comprising 402 amplicons was designed to selective enrich for highly heterozygous SNPs upstream of the DUX4 gene. Risk haplotype was constructed based on familial linkage analysis. Fetal genotypes were accurately inferred through relative haplotype dosage analysis using Bayes Factor. All tests were successfully completed in a single attempt, and no recombination events were detected. NIPD results were provided within a week, which is 4 weeks earlier than karyomapping and 7 weeks earlier than Bionano single-molecule optical mapping (BOM). Ultimately, five FSHD1 fetuses and two normal fetuses were successfully identified, with a 100% concordance rate with karyomapping and BOM. Therefore, SNP-based NIPD for FSHD1 was demonstrated to be feasible and accurate in early weeks of gestation, although the risk of recombination events cannot be completely eliminated. In the future, testing of more cases is still necessary to fully determine the clinical utility.
Assuntos
Distrofia Muscular Facioescapuloumeral , Polimorfismo de Nucleotídeo Único , Primeiro Trimestre da Gravidez , Humanos , Distrofia Muscular Facioescapuloumeral/genética , Distrofia Muscular Facioescapuloumeral/diagnóstico , Gravidez , Feminino , Polimorfismo de Nucleotídeo Único/genética , Primeiro Trimestre da Gravidez/genética , Masculino , Haplótipos/genética , Teste Pré-Natal não Invasivo/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Proteínas de Homeodomínio/genética , Genótipo , LinhagemRESUMO
OBJECTIVE: This study aimed to explore the value of preoperative and postoperative computed tomography (CT)-based radiomic signatures and Δ radiomic signatures for evaluating the early efficacy of microwave ablation (MWA) for pulmonary malignancies. METHODS: In total, 115 patients with pulmonary malignancies who underwent MWA treatment were categorized into response and nonresponse groups according to relevant guidelines and consensus. Quantitative image features of the largest pulmonary malignancies were extracted from CT noncontrast scan images preoperatively (time point 0, TP0) and immediately postoperatively (time point 1, TP1). Critical features were selected from TP0 and TP1 and as Δ radiomics signatures for building radiomics models. In addition, a combined radiomics model (C-RO) was developed by integrating radiomics parameters with clinical risk factors. Prediction performance was assessed using the area under the receiver operating characteristic curve (AUC) and decision curve analysis (DCA). RESULTS: The radiomics model using Δ features outperformed the radiomics model using TP0 and TP1 features, with training and validation AUCs of 0.892, 0.808, and 0.787, and 0.705, 0.825, and 0.778, respectively. By combining the TP0, TP1, and Δ features, the logistic regression model exhibited the best performance, with training and validation AUCs of 0.945 and 0.744, respectively. The DCA confirmed the clinical utility of the Δ radiomics model. CONCLUSIONS: A combined prediction model, including TP0, TP1, and Δ radiometric features, can be used to evaluate the early efficacy of MWA in pulmonary malignancies.
RESUMO
OBJECTIVE: To establish a haplotype-based noninvasive prenatal testing (NIPT) workflow for single-gene recessive disorders that adapt to dizygotic (DZ) twin pregnancies. METHOD: Twin pregnancies at risk of Duchenne muscular dystrophy, Becker muscular dystrophy, hemophilia B, spinal muscular atrophy, phenylketonuria, and nonsyndromic hearing loss were recruited. For subsequent analysis, capture sequencing targeting highly heterozygotic single nucleotide polymorphism sites was conducted. Paternal-specific alleles were used to calculate the total and individual fetal fractions and determine zygosity. A two-step Bayes Factor model was applied to clarify the complex genomic landscape in the maternal plasma: the first step involved determining whether the twins inherited the same haplotype, and the second step involved estimating their individual genotypes. NIPT results were subsequently confirmed by invasive diagnosis. RESULTS: Nine twin pregnancies were recruited, including five DZ and four monozygotic (MZ) twins. The earliest gestational age was 8+0 weeks, and the minimum fetal fraction was 4.6%. Three twin pregnancies were reported with one affected fetus, while the remaining six were reported without affected fetuses. Two dichorionic diamniotic twin pregnancies were confirmed to be MZ twins. The NIPT results were 100% consistent with those of invasive procedures or diagnostic genetic testing after birth. CONCLUSION: This study is the first to perform NIPT for single-gene disorders in twin pregnancies and preliminarily confirm its clinical feasibility. Acknowledging the twins' genotypes in the first trimester is valuable as it empowers obstetric care providers and parents to have adequate time for pregnancy management and decision-making.
Assuntos
Haplótipos , Teste Pré-Natal não Invasivo , Humanos , Feminino , Gravidez , Teste Pré-Natal não Invasivo/métodos , Adulto , Gêmeos Monozigóticos/genética , Gravidez de Gêmeos/genética , Genes Recessivos , Gêmeos Dizigóticos/genética , Polimorfismo de Nucleotídeo Único , Masculino , GenótipoRESUMO
BACKGROUND: The clinical performance of RHDO-based NIPD for PKU during early gestation remains under-evaluated. Furthermore, studies focused on SNP loci obtained by next-generation sequencing to analyze the genetic evolution of pathogenic variations in PKU is limited. METHODS: Maternal peripheral blood, along with proband and paternal samples, was collected between 7 and 12 weeks of gestation. The PAH gene and surrounding high heterozygosity SNPs were targeted for enrichment and sequencing. Fetal genotypes were inferred using RHDO-based NIPD. High-resolution PAH haplotypes were used for the analysis of two common pathogenic variants in the Chinese population: c.728G>A and c.1238G>C. RESULTS: Sixty one PKU families participated with an average fetal fraction of 6.08%. The median gestational age was 8+6 weeks. RHDO-based NIPD successfully identified fetal genotypes in 59 cases (96.72%, 59/62). Two cases failed because of insufficient informative SNPs. In addition, a recombination event was assessed in one fetus of 59 cases. Six, and three haplotypes were identified for c.728G>A(p.Arg243Gln) and c.1238G>C(p.Arg413Pro), respectively. Hap_3 and hap_8 were identified as the ancestral haplotypes for these pathogenic variants, with other haplotypes arising from mutations or recombination based on these ancestral haplotypes. CONCLUSIONS: This study validates the feasibility of an RHDO-based assay for NIPD of PKU in early pregnancy and introduces its application in the demonstration of founder effects in recurrent pathogenic variations, offering new insights into the evolutionary analysis of PAH variations.
RESUMO
Gray mold, caused by Botrytis cinerea, is a prevalent postharvest disease of apple that limits their shelf life, resulting in significant economic losses. The use of antagonistic microorganisms has been shown to be an effective approach for managing postharvest diseases of fruit. In the present study, an endophytic yeast strain PGY-2 was isolated from apples and evaluated for its biocontrol efficacy against gray mold and its mechanisms of action. Results indicated that strain PGY-2, identified as Bullera alba, reduced the occurrence of gray mold on apples and significantly inhibited lesion development in pathogen-inoculated wounds. Gray mold control increased with the use of increasing concentrations of PGY-2, with the best disease control observed at 108 cells/mL. Notably, Bullera alba PGY-2 did not inhibit the growth of Botrytis cinerea in vitro indicating that the yeast antagonist did not produce antimicrobial compounds. The rapid colonization and stable population of PGY-2 in apple wounds at 4 °C and 25 °C confirmed its ability to compete with pathogens for nutrients and space. PGY-2 also had a strong ability to form a biofilm and enhanced the activity of multiple defense-related enzymes (POD, PPO, APX, SOD, PAL) in host tissues. Our study is the first time to report the use of Bullera alba PGY-2 as a biocontrol agent for postharvest diseases of apple and provide evidence that Bullera alba PGY-2 represents an endophytic antagonistic yeast with promising biocontrol potential and alternative to the use of synthetic, chemical fungicides for the control of postharvest gray mold in apples.
Assuntos
Antibiose , Botrytis , Endófitos , Frutas , Malus , Doenças das Plantas , Malus/microbiologia , Botrytis/crescimento & desenvolvimento , Botrytis/fisiologia , Botrytis/efeitos dos fármacos , Doenças das Plantas/microbiologia , Doenças das Plantas/prevenção & controle , Endófitos/fisiologia , Endófitos/isolamento & purificação , Frutas/microbiologia , Leveduras/fisiologia , Leveduras/isolamento & purificação , Biofilmes/crescimento & desenvolvimentoRESUMO
To gain a comprehensive understanding of the hydrochemical characteristics, controlling factors, and water quality of groundwater in the main stream area of Yishu River (MSYR), a study was conducted using water quality data collected during both the dry and wet seasons. Through statistical analysis, hydrochemical methods, fuzzy comprehensive evaluation, and health risk evaluation modeling, the water chemical characteristics of the main stream area of Yishu River were studied, and the water quality of the area was comprehensively evaluated. The findings indicate that HCO3- and Ca2+ are the predominant anions and cations in the MSYR during the dry and wet seasons, respectively. Moreover, anion concentration in groundwater follows HCO3- > SO42- > NO3- > Cl-, while cations are ranked as Ca2+ > Na+ > Mg2+ > K+. Overall, the groundwater manifests as weakly alkaline and is predominantly classified as hard-fresh water. During the wet season, there is greater groundwater leaching and filtration, with rock and soil materials more readily transferred to groundwater, and the concentrations of main chemical components in groundwater are higher than those during the dry season, and the hydrochemical types are primarily characterized as HCO3-Ca·Mg and SO4·Cl-Ca·Mg types. These results also suggest that the chemical composition of the groundwater in the MSYR is influenced mainly by water-rock interaction. The primary ions originate from the dissolution of silicate rock and carbonate rock minerals, while cation exchange plays a critical role in the hydrogeochemical process. Groundwater in the MSYR is classified mostly as class II water, indicating that it is generally of good quality. However, areas with high levels of class IV and V water are present locally, and NO3- concentration is a crucial factor affecting groundwater quality. In the wet season, more groundwater and stronger mobility lead to greater mobility of NO3- and wider diffusion. Therefore, the risk evaluation model shows that nitrate health risk index is higher in the wet season than it is in the dry season, with children being more vulnerable to health risks than adults. To study groundwater in this area, its hydrochemical characteristics, water quality, and health risk assessment are of great practical significance for ensuring water safety for residents and stable development of social economy.
Assuntos
Monitoramento Ambiental , Água Subterrânea , Rios , Poluentes Químicos da Água , Qualidade da Água , Água Subterrânea/química , Poluentes Químicos da Água/análise , Rios/química , China , Estações do AnoRESUMO
The electroreduction of CO2 into value-added liquid fuels holds great promise for addressing global environmental and energy challenges. However, achieving highly selective yielding of multi-carbon oxygenates through the electrochemical CO2 reduction reaction (eCO2RR) is a formidable task, primarily due to the sluggish asymmetric C-C coupling reaction. In this study, a novel metal-organic framework (CuSn-HAB) with unprecedented heterometallic Sn···Cu dual sites (namely, a pair of SnN2O2 and CuN4 sites bridged by µ-N atoms) was designed to overcome this limitation. CuSn-HAB demonstrated an impressive Faradic efficiency (FE) of 56(2)% for eCO2RR to alcohols, achieving a current density of 68 mA cm-2 at a low potential of -0.57 V (vs RHE). Notably, no significant degradation was observed over a continuous 35 h operation at the specified current density. Mechanistic investigations revealed that, in comparison to the copper site, the SnN2O2 site exhibits a higher affinity for oxygen atoms. This enhanced affinity plays a pivotal role in facilitating the generation of the key intermediate *OCH2. Consequently, compared to homometallic Cu···Cu dual sites (generally yielding ethylene product), the heterometallic dual sites were proved to be more thermodynamically favorable for the asymmetric C-C coupling between *CO and *OCH2, leading to the formation of the key intermediate *CO-*OCH2, which is favorable for yielding ethanol product.
RESUMO
The electrochemical CO2 reduction reaction (eCO2RR) under acidic conditions has become a promising way to achieve high CO2 utilization because of the inhibition of undesirable carbonate formation that typically occurs under neutral and alkaline conditions. Herein, unprecedented and highly active ditin(IV) sites were integrated into the nanopores of a metal-organic framework, namely NU-1000-Sn, by a "ship-in-a-bottle" strategy. NU-1000-Sn delivers nearly 100% formic acid Faradaic efficiency at an industry current density of 260 mA cm-2 with a high single-pass CO2 utilization of 95% in an acidic solution (pH = 1.67). No obvious degradation was observed over 15 hours of continuous operation at the current density of 260 mA cm-2, representing the remarkable eCO2RR performance in acidic electrolyte to date. The mechanism study shows that both oxygen atoms of the key intermediate *HCOO can coordinate to the two adjacent Sn atoms in a ditin(IV) site simultaneously. Such bridging coordination is conducive to the hydrogenation of CO2, thus leading to high performance.
RESUMO
It is challenging and important to achieve high performance for an electrochemical CO2 reduction reaction (eCO2RR) to yield CH4 under neutral conditions. So far, most of the reported active sites for eCO2RR to yield CH4 are single metal sites; the performances are far below the commercial requirements. Herein, we reported a nanosheet metal-organic layer in single-layer, namely, [Cu2(obpy)2] (Cuobpy-SL, Hobpy = 1H-[2,2']bipyridinyl-6-one), possessing dicopper(I) sites for eCO2RR to yield CH4 in a neutral aqueous solution. Detailed examination of Cuobpy-SL revealed high performance for CH4 production with a faradic efficiency of 82(1)% and a current density of â¼90 mA cm-2 at -1.4 V vs. reversible hydrogen electrode (RHE). No obvious degradation was observed over 100 h of continuous operation, representing a remarkable performance to date. Mechanism studies showed that compared with the conventional single-copper sites and completely exposed dicopper(I) sites, the dicopper(I) sites in the confined space formed by the molecular stacking have a strong affinity to key C1 intermediates such as *CO, *CHO, and *CH2O to facilitate the CH4 production, yet inhibiting C-C coupling.
RESUMO
Extreme environmental disturbances induced by organic contaminated sites impose serious impacts on soil microbiomes. However, our understanding of the responses of the core microbiota and its ecological roles in organic contaminated sites is limited. In this study, we took a typical organic contaminated site as an example and investigated the composition and structure, assembly mechanisms of core taxa and their roles in key ecological functions across soil profiles. Results presented that core microbiota with a considerably lower number of species (7.93%) than occasional taxa presented comparatively high relative abundances (38.04%) yet, which was mainly comprised of phyla Proteobacteria (49.21%), Actinobacteria (12.36%), Chloroflexi (10.63%), and Firmicutes (8.21%). Furthermore, core microbiota was more influenced by geographical differentiation than environmental filtering, which possessed broader niche widths and stronger phylogenetic signals for ecological preferences than occasional taxa. Null modelling suggested that stochastic processes dominated the assembly of the core taxa and maintained a stable proportion along soil depths. Core microbiota had a greater impact on microbial community stability and possessed higher functional redundancy than occasional taxa. Additionally, the structural equation model illustrated that core taxa played pivotal roles in degrading organic contaminants and maintaining key biogeochemical cycles potentially. Overall, this study deepens our knowledge of the ecology of core microbiota under complicated environmental conditions in organic contaminated sites, and provides a fundamental basis for preserving and potentially utilizing core microbiota to maintain soil health.
Assuntos
Microbiota , Solo , Solo/química , Microbiologia do Solo , Filogenia , Bactérias/genéticaRESUMO
BACKGROUND: Early diagnosis and intervention are crucial for the prognosis of methylmalonic acidemia (MMA). However, research focused on early prenatal diagnosis of MMA is limited. METHODS: A 161.89kb capture panel was designed for selectively enriching highly heterozygous SNPs. Fetal genotypes were inferred using relative haplotype dosage (RHDO) and Bayes factor, followed by invasive prenatal diagnosis (IPD) for validation. A core pathogenic haplotype associated with c.609G>A was identified based on the frequency differences between pathogenic and normal haplotypes. RESULTS: We recruited 41 pregnancies at risk of MMA with a median gestational age of 8+2 weeks. The assay success rate of NIPD-MMA for maternal variants was 92.7% (38/41), and after incorporating the paternal result, the overall assay success rate reached 100% (41/41). All NIPD results were concordant with IPD. Notably, a core haplotype (hap_2), comprising 28 SNPs, demonstrates significant enrichment within pathogenic haplotypes bearing the c.609G>A variation. On average, c.609G>A carriers had 22.38 heterozygous loci within these 28 SNPs. CONCLUSION: NIPD-MMA presents a viable choice for early, accurate, and safe prenatal diagnosis. Furthermore, the discovery of the recurrent core pathogenic haplotype provides a novel approach for haplotype phasing and has the potential for realizing proband-independent NIPD in the future.
Assuntos
Teste Pré-Natal não Invasivo , Gravidez , Feminino , Humanos , Lactente , Teste Pré-Natal não Invasivo/métodos , Haplótipos , Teorema de Bayes , Diagnóstico Pré-Natal/métodosRESUMO
Radiomics methods are increasingly used to identify benign and malignant lung nodules, and early monitoring is essential in prognosis and treatment strategy formulation. To evaluate the diagnostic performance of computed tomography (CT)-based radiomics for distinguishing between benign and malignant lung nodules by performing a meta-analysis. Between January 2000 and December 2021, we searched the PubMed and Embase electronic databases for studies in English. Studies were included if they demonstrated the sensitivity and specificity of CT-based radiomics for diagnosing benign and malignant lung nodules. The studies were evaluated using the QUADAS-2 and radiomics quality scores (RQS). The inhomogeneity of the data and publishing bias were also evaluated. Some subgroup analyses were performed to investigate the impact of diagnostic efficiency. The Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) Guidelines were followed for this meta-analysis. A total of 20 studies involving 3793 patients were included. The combined sensitivity, specificity, diagnostic odds ratio, and area under the summary receiver operating characteristic curve based on CT radiomics diagnosis of benign and malignant lung nodules were 0.81, 0.86, 27.00, and 0.91, respectively. Deek's funnel plot asymmetry test confirmed no significant publication bias in all studies. Fagan nomograms showed a 40% increase in post-test probability among pretest-positive patients. Current evidence shows that CT-based radiomics has high accuracy in the diagnosis of benign and malignant lung nodules.
Assuntos
Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/patologia , Tomografia Computadorizada por Raios X/métodos , Sensibilidade e Especificidade , Pulmão/patologiaRESUMO
BACKGROUND: Undeviating climatic instabilities have increased the incidents of drought. Crop performance and yield attributes of tomatoes are negatively affected by drought stress. Biochar is an organic amendment that can increase crop yield and nutritional value under water-deficient conditions by retaining water and providing nutrients (nitrogen, phosphorus, potassium, and other trace elements). RESULTS: The present study was designed to investigate the effects of biochar on tomato plant physiology, yield, and nutritional quality under deficit moisture regimes. Plants were subjected to two biochar levels (0.1% and 0.2%) and four moisture levels [100%, 70%, 60%, and 50% field capacities (FCs)]. Drought stress, especially 50D (50% FC), severely affected the plant morphology, physiology, yield, and fruit quality attributes. However, plants grown in biochar-amended soil showed significant increase in the studied attributes. Plant height, root length, fresh and dry weight of root, the number of fruits per plant, fruit fresh and dry weight, ash percent, crude fat, crude fiber, crude protein, and lycopene contents were increased in plants grown in biochar-amended soil under control and drought stress. CONCLUSION: Biochar at 0.2% application rate depicted a more pronounced increment in the studied parameters than 0.1% and can save 30% water without compromising tomato crop yield and nutritional value. © 2023 Society of Chemical Industry.
Assuntos
Solanum lycopersicum , Secas , Solo/química , Água/metabolismo , Valor NutritivoRESUMO
OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION: CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.
Assuntos
Variações do Número de Cópias de DNA , Transtornos do Desenvolvimento Sexual , Humanos , Criança , Feminino , Aberrações Cromossômicas , Cariotipagem , Sequenciamento do Exoma , Transtornos do Desenvolvimento Sexual/genéticaRESUMO
The development of efficient electrocatalysts with non-copper metal sites for electrochemical CO2 reduction reactions (eCO2 RR) to hydrocarbons and oxygenates is highly desirable, but still a great challenge. Herein, a stable metal-organic framework (DMA)4 [Sn2 (THO)2 ] (Sn-THO, THO6- = triphenylene-2,3,6,7,10,11-hexakis(olate), DMA = dimethylammonium) with isolated and distorted octahedral SnO6 2- active sites is reported as an electrocatalyst for eCO2 RR, showing an exceptional performance for eCO2 RR to the CH4 product rather than the common products formate and CO for reported Sn-based catalysts. The partial current density of CH4 reaches a high value of 34.5â mA cm-2 , surpassing most reported copper-based and all non-Cu metal-based catalysts. Our experimental and theoretical results revealed that the isolated SnO6 2- active site favors the formation of key *OCOH species to produce CH4 and can greatly inhibit the formation of *OCHO and *COOH species to produce *HCOOH and *CO, respectively.
RESUMO
Crystalline porous materials sustained by supramolecular interactions (e.g., π-π stacking interactions) are a type of molecular crystals showing considerable stability, but their applications are rarely reported due to the high difficulty of their construction. Herein, a stable π-π stacking framework formed by a trinuclear copper(I) compound [Cu3(HBtz)3(Btz)Cl2] (CuBtz, HBtz = benzotriazole) with pyrazolate-bridged dicopper(I) sites is reported and employed for electrochemical CO2 reduction, showing an impressive performance of 73.7 ± 2.8% Faradaic efficiency for C2+ products [i.e., ethylene (44%), ethanol (21%), acetate (4.7%), and propanol (4%)] with a current density of 7.9 mA cm-2 at the potential of -1.3 V versus RHE in an H-type cell and a Faradic efficiency (61.6%) of C2+ products with a current density of ≈1 A cm-2 and a reaction rate of 5639 µmol m-2 s-1 at the potential of -1.6 V versus RHE in a flow cell device, representing an impressive performance reported to date. In-situ infrared spectroscopy, density functional theory calculations, and control experiments revealed that the uncoordinated nitrogen atoms of benzotriazolates in the immediate vicinity can act as proton relays and cooperate with the dicopper(I) site to promote the hydrogenation process of the *CO intermediate and the C-C coupling, resulting in the highly selective electroreduction of CO2 to C2+ products.
Assuntos
Dióxido de Carbono , Prótons , Cobre , Porosidade , PropanóisRESUMO
PURPOSE: Haplotype-based assay has been proved efficient in noninvasive prenatal testing for various monogenic disorders in singleton pregnancies. However, its application in twin pregnancies is still blank. Here we provide a novel algorithmic approach to noninvasively assess fetal genotypes in a dizygotic twin pregnancy at risk for Duchenne muscular dystrophy (DMD). METHODS: One pregnant woman carrying a dizygotic twin gestation was recruited as she was a heterozygote of DMD gene duplication and has delivered an affected son. Construction of parental haplotypes was achieved by target sequencing of DNA samples from the parent and the proband. Single nucleotide polymorphisms within target regions were classified into six categories according to parental haplotypes. Individual fetal fractions were calculated using paternal heterozygous. Maternal-inherited haplotype was deduced using relative haplotype dosage through a two-step Bayesian model. RESULTS: One male fetus with a lower fetal fraction of 4.6% and one female fetus with a higher fetal fraction of 10.1% were observed. The male fetus was predicted to be a DMD pathogenic variant carrier, while the female fetus was predicted to be homozygous normal. Noninvasive prenatal testing (NIPT) results were concordant with the findings of invasive prenatal diagnosis. CONCLUSIONS: This study is the first report of the use of NIPT for the assessment of DMD in a twin pregnancy. The algorithm provided could expand the use of NIPT to monogenic disorders in dizygotic twin pregnancies.
Assuntos
Distrofia Muscular de Duchenne , Teste Pré-Natal não Invasivo , Teorema de Bayes , Distrofina/genética , Feminino , Humanos , Masculino , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Gravidez , Gravidez de Gêmeos , Diagnóstico Pré-Natal/métodosRESUMO
Hydrazine (NH2 NH2 ) is a highly toxic organic substance that poses a threat to human health. Monitoring hydrazine with high sensitivity and selectivity is very important. Here, a simple colorimetric fluorescent probe for hydrazine detection, which is a seminaphthorhodafluor derivative containing thiophene-2-carboxylic acid ester reaction site, was rationally constructed. The probe itself exhibits weak fluorescence. The fluorescence is significantly enhanced when hydrazine is added. The probe exhibited a broad linear range (0-1 mM) with satisfactory selectivity and sensitivity (limit of detection 36.4 µM), which turned out to be an excellent fluorescent probe for monitoring hydrazine. Additionally, the probe was used to track hydrazine in living cells and zebrafish with great success, and the detection performance was satisfying. These results proved that this type of fluorescent probe with the thiophene-2-carboxylic acid ester structure can detect hydrazine with higher selectivity and sensitivity.