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1.
Nat Commun ; 15(1): 3279, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627378

RESUMO

The emerging monkeypox virus (MPXV) has raised global health concern, thereby highlighting the need for rapid, sensitive, and easy-to-use diagnostics. Here, we develop a single-step CRISPR-based diagnostic platform, termed SCOPE (Streamlined CRISPR On Pod Evaluation platform), for field-deployable ultrasensitive detection of MPXV in resource-limited settings. The viral nucleic acids are rapidly released from the rash fluid swab, oral swab, saliva, and urine samples in 2 min via a streamlined viral lysis protocol, followed by a 10-min single-step recombinase polymerase amplification (RPA)-CRISPR/Cas13a reaction. A pod-shaped vest-pocket analysis device achieves the whole process for reaction execution, signal acquisition, and result interpretation. SCOPE can detect as low as 0.5 copies/µL (2.5 copies/reaction) of MPXV within 15 min from the sample input to the answer. We validate the developed assay on 102 clinical samples from male patients / volunteers, and the testing results are 100% concordant with the real-time PCR. SCOPE achieves a single-molecular level sensitivity in minutes with a simplified procedure performed on a miniaturized wireless device, which is expected to spur substantial progress to enable the practice application of CRISPR-based diagnostics techniques in a point-of-care setting.


Assuntos
Exantema , Vírus da Varíola dos Macacos , Humanos , Masculino , Bioensaio , Morte Celular , Nucleotidiltransferases , Técnicas de Amplificação de Ácido Nucleico , Sensibilidade e Especificidade , Sistemas CRISPR-Cas , Recombinases
2.
ACS Omega ; 9(9): 10860-10874, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38463300

RESUMO

In this study, the chemical substances of Heiguteng Zhuifeng Huoluo Capsule (HZFC) and its potential active ingredients for the treatment of rheumatoid arthritis (RA) were characterized and analyzed by medicinal chemistry combined with bioinformatics methods. Also, the potential active ingredients of HZFC against RA were verified by lipopolysaccharide (LPS)-induced macrophage activation model. The results showed that 79 chemical constituents were successfully identified, mainly including phenylpropanoids, flavonoids, and alkaloids. Among them, 13 active components were closely related to the nine core targets (FASN, ALOX5, EGFR, MMP1, CYP2D6, CNR1, AR, MAOA, and FKBP5) of HZFC in the treatment of RA. Molecular docking further proved that 13 active components had strong docking activity with 9 core targets. In the verification experiment of the LPS-induced RAW 264.7 macrophage model, the verified components (magnoflorine, N-feruloyltyramine, canadine, rutin, quercetin-3-O-glucoside, and pseudocolumbamine) all showed a clear inhibitory effect on the secretion of inflammatory factors in model cells. The above research results suggest that 13 components such as stepharanine, rutin, quercetin-3-O-glucoside, corydine methyl ether, canadine, 8-oxoepiberberine, disinomenine, deosinomenine glucoside, tuduranine, magnoflorine, isosinomenine, pseudocolumbamine, and N-feruloyltyramine may be the main active substances of HZFC in the treatment of RA.

3.
Nat Commun ; 15(1): 1066, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38316825

RESUMO

Presynthesized perovskite quantum dots are very promising for making films with different compositions, as they decouple crystallization and film-formation processes. However, fabricating large-area uniform films using perovskite quantum dots is still very challenging due to the complex fluidic dynamics of the solvents. Here, we report a robust film-formation approach using an environmental-friendly binary-solvent strategy. Nonbenzene solvents, n-octane and n-hexane, are mixed to manipulate the fluidic and evaporation dynamics of the perovskite quantum dot inks, resulting in balanced Marangoni flow, enhanced ink spreadability, and uniform solute-redistribution. We can therefore blade-coat large-area uniform perovskite films with different compositions using the same fabrication parameters. White and red perovskite light-emitting diodes incorporating blade-coated films exhibit a decent external quantum efficiency of 10.6% and 15.3% (0.04 cm2), and show a uniform emission up to 28 cm2. This work represents a significant step toward the application of perovskite light-emitting diodes in flat panel solid-state lighting.

4.
Front Pediatr ; 12: 1346006, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38384660

RESUMO

Objective: This study aimed to construct and validate a nomogram for predicting cardiovascular mortality (CVM) for child, adolescent, and adult patients with diffuse large B-cell lymphoma (DLBCL). Materials and methods: Patients with only one primary tumor of DLBCL first diagnosed between 2000 and 2019 in the SEER database were extracted. We used the cumulative incidence function (CIF) to evaluate the cumulative rate of CVM. The outcome of interest was CVM, which was analyzed using a competing risk model, accounting for death due to other causes. The total database was randomly divided into a training cohort and an internal validation cohort at a ratio of 7:3. Adjustments were for demographics, tumor characteristics, and treatment modalities. Nomograms were constructed according to these risk factors to predict CVM risk at 5, 10, and 15 years. Validation included receiver operating characteristic (ROC) curves, time-dependent ROC, C-index, calibration curves, and decision curve analysis. Results: One hundred four thousand six hundred six patients following initial diagnosis of DLBCL were included (58.3% male, median age 64 years, range 0-80, White 83.98%). Among them, 5.02% died of CVM, with a median follow-up time of 61 (31-98) months. Nomograms based on the seven risk factors (age at diagnosis, gender, race, tumor grade, Ann Arbor stage, radiation, chemotherapy) with hazard ratios ranging from 0.19-1.17 showed excellent discrimination, and calibration plots demonstrated satisfactory prediction. The 5-, 10-, and 15-year AUC and C-index of CVM in the training set were 0.716 (0.714-0.718), 0.713 (0.711-0.715), 0.706 (0.704-0.708), 0.731, 0.727, and 0.719; the corresponding figures for the validation set were 0.705 (0.688-0.722), 0.704 (0.689-0.718), 0.707 (0.693-0.722), 0.698, 0.698, and 0.699. Decision curve analysis revealed a clinically beneficial net benefit. Conclusions: We first built the nomogram model for DLBCL patients with satisfactory prediction and excellent discrimination, which might play an essential role in helping physicians enact better treatment strategies at the time of initial diagnosis.

5.
Small ; : e2307071, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38032166

RESUMO

Liquid metals have attracted a lot of attention as self-healing materials in many fields. However, their applications in secondary batteries are challenged by electrode failure and side reactions due to the drastic volume changes during the "liquid-solid-liquid" transition. Herein, a simple encapsulated, mass-producible method is developed to prepare room-temperature liquid metal-infilled microcapsules (LMMs) with highly conductive carbon shells as anodes for lithium-ion batteries. Due to the reasonably designed voids in the microcapsule, the liquid metal particles (LMPs) can expand freely without damaging the electrode structure. The LMMs-based anodes exhibit superior capacity of rete-performance and ultra-long cycling stability remaining 413 mAh g-1 after 5000 cycles at 5.0 A g-1 . Ex situ X-ray powder diffraction (XRD) patterns and electrochemical impedance spectroscopy (EIS) reveal that the LMMs anode displays a stable alloying/de-alloying mechanism. DFT calculations validate the electronic structure and stability of the room-temperature LMMs system. These findings will bring some new opportunities to develop high-performance battery systems.

6.
Virulence ; 14(1): 2271688, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37848422

RESUMO

The emergence of antibiotic-resistant Aeromonas strains in clinical settings has presented an escalating burden on human and public health. The dissemination of antibiotic resistance in Aeromonas is predominantly facilitated by chromosome-borne accessory genetic elements, although the existing literature on this subject remains limited. Hence, the primary objective of this study is to comprehensively investigate the genomic characteristics of chromosome-borne accessory genetic elements in Aeromonas. Moreover, the study aims to uncover novel genetic environments associated with antibiotic resistance on these elements. Aeromonas were screened from nonduplicated strains collected from two tertiary hospitals in China. Complete sequencing and population genetics analysis were performed. BLAST analysis was employed to identify related elements. All newly identified elements were subjected to detailed sequence annotation, dissection, and comparison. We identified and newly designated 19 chromosomal elements, including 18 integrative and mobilizable elements (IMEs) that could be classified into four categories: Tn6737-related, Tn6836-related, Tn6840-related, and Tn6844a-related IMEs. Each class exhibited a distinct pattern in the types of resistance genes carried by the IMEs. Several novel antibiotic resistance genetic environments were uncovered in these elements. Notably, we report the first identification of the blaOXA-10 gene and blaVEB-1 gene in clinical A. veronii genome, the first presence of a tetA(E)-tetR(E) resistance gene environment within the backbone region in IMEs, and a new mcr-3.15 resistance gene environment. The implications of these findings are substantial, as they provide new insights into the evolution, structure, and dissemination of chromosomal-borne accessory elements.


Assuntos
Aeromonas , Humanos , Aeromonas/genética , Resistência Microbiana a Medicamentos , Antibacterianos/farmacologia , Cromossomos , China
7.
Eur J Med Genet ; 66(10): 104836, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37673299

RESUMO

OBJECTIVES: This study aimed to investigate the incidence rate, clinical phenotype, gene variation spectrum, and prognosis of neonatal hyperhomocysteinemia (HHcy) and explore its diagnosis, individualised treatment, and prevention strategies. METHODS: We screened 84722 neonates for HHcy using liquid chromatography-tandem mass spectrometry (LC-MS/MS) combined with biochemical detection, urine gas chromatography-mass spectrometry (GC-MS), and next-generation sequencing (NGS) for gene analysis to comprehensively differentiate and diagnose diseases. RESULTS: 18 children (P1-P18) were diagnosed with methylmalonic acidemia (MMA) and HHcy, and fourteen known and one new variant of the MMACHC gene were found. Five children showed poor mental reactions, brain dysplasia, lethargy, hyperbilirubinemia, and jaundice, whereas the other 13 children had no evident abnormalities. These children were all cobalamin- and folic acid-reactive types, and they were mainly supplemented with cobalamin, L-carnitine, betaine, and folic acid. The mother of P12 had a prenatal diagnosis at the next pregnancy; the results showed that MMACHC gene was not pathogenic and she gave birth to a healthy baby. One child (P19) was diagnosed with methylenetetrahydrofolate reductase (MTHFR) deficiency, and one new mutation was detected in the MTHFR gene. Patient P19 showed congenital brain dysplasia, neonatal anaemia, and hyperbilirubinemia, and treatment consisted mainly of betaine and cobalamin supplementation. One child (P20) was confirmed to have methionine adenosyltransferase I (MAT I) deficiency but had no clinical manifestations. After treatment, all the children had a good prognosis. CONCLUSION: The incidence of neonatal HHcy in the Zibo area was 1/4236, and the common pathogenic variants were c.609G>A, c.80A>G, and c.482G>A in the MMACHC gene. Patients with HHcy can achieve a good prognosis if pathogenic factors and targeted treatment are identified. Gene analysis and prenatal diagnosis contribute to the early prevention of HHcy.

8.
Sensors (Basel) ; 23(18)2023 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-37765939

RESUMO

Due to the environmental protection of electric buses, they are gradually replacing traditional fuel buses. Several previous studies have found that accidents related to electric vehicles are linked to Unintended Acceleration (UA), which is mostly caused by the driver pressing the wrong pedal. Therefore, this study proposed a Model for Detecting Pedal Misapplication in Electric Buses (MDPMEB). In this work, natural driving experiments for urban electric buses and pedal misapplication simulation experiments were carried out in a closed field; furthermore, a phase space reconstruction method was introduced, based on chaos theory, to map sequence data to a high-dimensional space in order to produce normal braking and pedal misapplication image datasets. Based on these findings, a modified Swin Transformer network was built. To prevent the model from overfitting when considering small sample data and to improve the generalization ability of the model, it was pre-trained using a publicly available dataset; moreover, the weights of the prior knowledge model were loaded into the model for training. The proposed model was also compared to machine learning and Convolutional Neural Networks (CNN) algorithms. This study showed that this model was able to detect normal braking and pedal misapplication behavior accurately and quickly, and the accuracy rate on the test dataset is 97.58%, which is 9.17% and 4.5% higher than the machine learning algorithm and CNN algorithm, respectively.

9.
Molecules ; 28(11)2023 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-37298884

RESUMO

Co-hydrothermal carbonization (co-HTC) of N-rich and lignocellulosic biomass is a potential way to produce hydrochar with high yield and quality, but the nitrogen will also enrich in a solid product. In this study, a novel co-HTC with acid-alcohol assistance is proposed, and the model compounds bovine serum albumin (BSA) and lignin were used to investigate the role of the acid-alcohol-enhanced Mannich reaction in nitrogen migration. The results showed that the acid-alcohol mixture could inhibit nitrogen enrichment in solids and the order of the denitrification rate was acetic acid > oxalic acid > citric acid. Acetic acid promoted solid-N hydrolysis to NH4+ while oxalic acid preferred to convert it to oil-N. More tertiary amines and phenols were generated with oxalic acid-ethanol addition and then formed quaternary-N and N-containing aromatic compounds through the Mannich reaction. In the citric acid-ethanol-water solution, NH4+ and amino acids were captured to form diazoxide derivatives in oil and pyrroles in solids through both nucleophilic substitution and the Mannich reaction. The results are able to guide biomass hydrochar production with the targeted regulation of nitrogen content and species.


Assuntos
Carbono , Lignina , Carbono/química , Soroalbumina Bovina , Nitrogênio , Temperatura , Etanol , Biomassa , Oxalatos
10.
J Comp Eff Res ; : e220168, 2023 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-37256256

RESUMO

Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: According to the different indications for amniocentesis, the study was divided into 8 groups. The number of amniocentesis specimens, the number of abnormal karyotypes and the positive rate of each group were analyzed. Results: Compared with prenatal serum screening, noninvasive prenatal DNA testing is more accurate and can effectively improve screening efficiency. Multiple prenatal diagnosis indicators (37.349%) were more likely to be detected than single prenatal diagnosis indicators (11.091%). Conclusion: None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

11.
Int. microbiol ; 26(2): 371-378, May. 2023. graf
Artigo em Inglês | IBECS | ID: ibc-220228

RESUMO

The increasingly frequent occurence of IncHI5 plasmids has attracted worldwide attention. The aim of this study was to perform an in-depth bioinformatics analysis to determine the genetic characteristics and global distribution of all IncHI5 plasmids. The geographic distribution and epidemiology of all IncHI5 plasmids from GenBank were analyzed based on relevant literature reports and background information from the National Center for Biotechnology Information (NCBI). Detailed annotation of antibiotic resistance genes was performed. A total of 65 IncHI5 plasmid genomes were collected in GenBank. All IncHI5 plasmids were carried by Enterobacteriaceae, of which Klebsiella pneumoniae accounted for the largest proportion (50%, 33/65). The host bacterium of IncHI5 plasmids was mainly isolated from Homo Sapiens (81%, 53/65). All strains carrying IncHI5 plasmids were mainly distributed in China (83%, 54/65). Evolutionary analysis can divide IncHI5 plasmids into two groups, namely Groups I/II, of which Group II was more widely distributed worldwide. This study showed that Enterobacteriaceae, especially Klebsiella, was the main host for IncHI5 plasmid. Almost all IncHI5 plasmids carried multiple types of antibiotic resistance genes, related to Tn1696 or Tn6535. The IncHI5 plasmids should be of continuing interest as good repositories for antibiotic resistance genes.(AU)


Assuntos
Humanos , Enterobacteriaceae , Epidemiologia , Resistência a Medicamentos , Plasmídeos , Microbiologia , Técnicas Microbiológicas
12.
Front Pediatr ; 11: 1102878, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37077339

RESUMO

Background: Moderate-to-severe bronchopulmonary dysplasia (msBPD) is a serious complication in preterm infants. We aimed to develop a dynamic nomogram for early prediction of msBPD using perinatal factors in preterm infants born at <32 weeks' gestation. Methods: This multicenter retrospective study conducted at three hospitals in China between January 2017 and December 2021 included data on preterm infants with gestational age (GA) < 32 weeks. All infants were randomly divided into training and validation cohorts (3:1 ratio). Variables were selected by Lasso regression. Multivariate logistic regression was used to build a dynamic nomogram to predict msBPD. The discrimination was verified by receiver operating characteristic curves. Hosmer-Lemeshow test and decision curve analysis (DCA) were used for evaluating calibration and clinical applicability. Results: A total of 2,067 preterm infants. GA, Apgar 5-min score, small for gestational age (SGA), early onset sepsis, and duration of invasive ventilation were predictors for msBPD by Lasso regression. The area under the curve was 0.894 (95% CI 0.869-0.919) and 0.893 (95% CI 0.855-0.931) in training and validation cohorts. The Hosmer-Lemeshow test calculated P value of 0.059 showing a good fit of the nomogram. The DCA demonstrated significantly clinical benefit of the model in both cohorts. A dynamic nomogram predicting msBPD by perinatal days within postnatal day 7 is available at https://sdxxbxzz.shinyapps.io/BPDpredict/. Conclusion: We assessed the perinatal predictors of msBPD in preterm infants with GA < 32 weeks and built a dynamic nomogram for early risk prediction, providing clinicians a visual tool for early identification of msBPD.

13.
Biosens Bioelectron ; 229: 115238, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36958206

RESUMO

The continued emergence of SARS-CoV-2 variants of concern (VOCs) has raised great challenges for epidemic prevention and control. A rapid, sensitive, and on-site SARS-CoV-2 genotyping technique is urgently needed for individual diagnosis and routine surveillance. Here, a field-deployable ultrasensitive CRISPR-based diagnostics system, called Chemical additive-Enhanced Single-Step Accurate CRISPR/Cas13 Testing system (CESSAT), for simultaneous screening of SARS-CoV-2 and its five VOCs (Alpha, Beta, Gamma, Delta, and Omicron) within 40 min was reported. In this system, a single-step reverse transcription recombinase polymerase amplification-CRISPR/Cas13a assay was incorporated with optimized extraction-free viral lysis and reagent lyophilization, which could eliminate complicated sample processing steps and rigorous reagent storage conditions. Remarkably, 10% glycine as a chemical additive could improve the assay sensitivity by 10 times, making the limit of detection as low as 1 copy/µL (5 copies/reaction). A compact optic fiber-integrated smartphone-based device was developed for sample lysis, assay incubation, fluorescence imaging, and result interpretation. CESSAT could specifically differentiate the synthetic pseudovirus of SARS-CoV-2 and its five VOCs. The genotyping results for 40 clinical samples were in 100% concordance with standard method. We believe this simple but efficient enhancement strategy can be widely incorporated with existing Cas13a-based assays, thus leading a substantial progress in the development and application of rapid, ultrasensitive, and accurate nucleic acid analysis technology.


Assuntos
Técnicas Biossensoriais , COVID-19 , Humanos , COVID-19/diagnóstico , Sistemas CRISPR-Cas/genética , Genótipo , SARS-CoV-2/genética , RNA Viral/genética
14.
Int Microbiol ; 26(2): 371-378, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36383268

RESUMO

The increasingly frequent occurence of IncHI5 plasmids has attracted worldwide attention. The aim of this study was to perform an in-depth bioinformatics analysis to determine the genetic characteristics and global distribution of all IncHI5 plasmids. The geographic distribution and epidemiology of all IncHI5 plasmids from GenBank were analyzed based on relevant literature reports and background information from the National Center for Biotechnology Information (NCBI). Detailed annotation of antibiotic resistance genes was performed. A total of 65 IncHI5 plasmid genomes were collected in GenBank. All IncHI5 plasmids were carried by Enterobacteriaceae, of which Klebsiella pneumoniae accounted for the largest proportion (50%, 33/65). The host bacterium of IncHI5 plasmids was mainly isolated from Homo Sapiens (81%, 53/65). All strains carrying IncHI5 plasmids were mainly distributed in China (83%, 54/65). Evolutionary analysis can divide IncHI5 plasmids into two groups, namely Groups I/II, of which Group II was more widely distributed worldwide. This study showed that Enterobacteriaceae, especially Klebsiella, was the main host for IncHI5 plasmid. Almost all IncHI5 plasmids carried multiple types of antibiotic resistance genes, related to Tn1696 or Tn6535. The IncHI5 plasmids should be of continuing interest as good repositories for antibiotic resistance genes.


Assuntos
Infecções por Enterobacteriaceae , Infecções por Klebsiella , Humanos , Enterobacteriaceae , Infecções por Enterobacteriaceae/epidemiologia , Infecções por Enterobacteriaceae/microbiologia , Epidemiologia Molecular , Plasmídeos/genética , Antibacterianos/farmacologia , Klebsiella pneumoniae/genética , Resistência a Medicamentos , beta-Lactamases/genética , Testes de Sensibilidade Microbiana
15.
Microbiol Spectr ; 10(5): e0251022, 2022 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-36154205

RESUMO

The objective of this study is to characterize the molecular mechanism of a clinical carbapenem-resistant Citrobacter portucalensis strain K218, which coproduces KPC and NDM carbapenemases. K218 was isolated from a patient's blood sample in a Chinese tertiary hospital. Carbapenemases were detected by the immunocolloidal gold technique. The MIC values were determined by VITEK2. Whole-genome sequencing was performed on K218 and sequence data were analyzed using phylogenetics and extensive genomic comparison. This study reveals that K218 contains a single 5.08 Mb chromosome (51.8% GC content) and four plasmids, pK218-KPC (106 Kb), pK218-NDM (111 Kb), pK218-SHV (191 Kb), and pK218-NR (5 Kb). Twenty-nine types of antibiotic resistance genes were carried on K218, including blaKPC-2 harbored on pK218-KPC and blaNDM-1 harbored on pK218-NDM. Detailed comparison of related plasmids of pK218-KPC, pK218-NDM, and pK218-SHV showed that they shared similar conserved backbone regions, respectively. Comprehensive annotation revealed large accessory modules were recombined on the genome of K218. Further analysis speculated that mobile genetic elements bearing abundant resistance genes facilitated the formation of these accessory modules. In conclusion, this study provides an in-depth understanding of the genomic characterization of K218, an extensively drug-resistant C. portucalensis strain coproducing NDM and KPC carbapenemase. To the best of our knowledge, this is the first report of C. portucalensis strain coharboring blaKPC-2 and blaNDM-1 from the clinical setting. IMPORTANCE This is the first report of extensively drug-resistant C. portucalensis harboring both blaKPC-2 and blaNDM-1. This study will not only extend the understanding of the structural dissection of plasmids and chromosomes carried in C. portucalensis, but also expand knowledge of the genetic environment of the blaKPC-2 and blaNDM-1 genes. blaKPC-2 and blaNDM-1 genes have been suggested to facilitate the propagation and persistence of their host bacteria under different antimicrobial selection pressures. Large accessory regions carrying blaKPC-2 and blaNDM-1 genes have become hot spots for transposition and integration, and their structural variation and evolution should receive attention. The multidrug-resistant plasmids pK218-KPC, pK218-NDM, and pK218-SHV with several multidrug resistance regions and the chromosome cK218 with two novel transposons Tn7410 and Tn7411 contribute to the formation of extensively drug-resistant C. portucalensis.


Assuntos
Carbapenêmicos , beta-Lactamases , Humanos , Centros de Atenção Terciária , beta-Lactamases/genética , Plasmídeos/genética , Antibacterianos/farmacologia , Ouro , Testes de Sensibilidade Microbiana , Klebsiella pneumoniae/genética
16.
J Pediatr Endocrinol Metab ; 35(10): 1264-1271, 2022 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-36068006

RESUMO

OBJECTIVES: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of the fatty acid oxidative metabolism. This study aimed to investigate the epidemiological characteristics, the spectrum of variation, clinical phenotype, and prognosis of MCADD in Chinese newborns. METHODS: We retrospectively analysed newborn screening (NBS) data in the Zibo area from January 2016 to March 2022 and summarized 42 cases recently reported in Chinese neonates. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) and next-generation sequencing (NGS) were used to detect the concentrations of carnitine in the blood spots and for diagnosis. RESULTS: A total of 183,082 newborns were detected, and six patients were diagnosed with MCADD (1/3,0514). The primary octanoylcarnitine (C8) and the octanoylcarnitine/decanoylcarnitine ratio (C8/C10) were elevated in all patients. Gene analysis revealed four known and four novel variants of the ACADM gene. Five patients were asymptomatic and developed normally under dietary guidance. One child died of vaccination-induced MCADD, presenting with hypoglycemia and elevated acylcarnitines. CONCLUSIONS: The incidence of MCADD in Chinese newborns varies geographically from 1/222,903 to 1/30,514, and the most common pathogenic variant is c.449_452 del CTGA (p. T150Rfs∗4) in ACADM gene with a frequency of 27.7%. HPLC-MS/MS and genetic analysis are beneficial for early prevention and good prognosis of MCADD.


Assuntos
Erros Inatos do Metabolismo Lipídico , Triagem Neonatal , Acil-CoA Desidrogenase/deficiência , Acil-CoA Desidrogenase/genética , Carnitina/análogos & derivados , China/epidemiologia , Ácidos Graxos , Variação Genética , Humanos , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo Lipídico/genética , Triagem Neonatal/métodos , Estudos Retrospectivos , Espectrometria de Massas em Tandem
17.
Int J Endocrinol ; 2022: 7300796, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35983018

RESUMO

Purpose: Recent studies have shown that Ankyrin Repeat Domain 55 (ANKRD55) gene polymorphism is a risk factor for multiple autoimmune diseases, but its association with autoimmune thyroid diseases (AITDs) has not been reported. The purpose of this study was to investigate the potential relationship between polymorphism of the ANKRD55 gene and AITDs. Methods: For this study, we enrolled 2050 subjects, consisting of 1220 patients with AITD and 830 healthy subjects. Five loci (rs321776, rs191205, rs7731626, rs415407, and rs159572) of the ANKRD55 gene were genotyped using Multiplex PCR combined with high-throughput sequencing. Results: The results showed that the allele frequencies of rs7731626 and rs159572 loci in HT patients were lower than those in normal controls (P=0.048 and P=0.03, respectively). In different genetic model analyses, rs7731626 and rs159572 were also significantly correlated with HT in allele, dominant and additive models before and after age and sex adjustment. There were no differences in rs321776, rs191205, or rs415407 of the ANKRD55 gene in allele frequency or genotype frequency between AITDs patients and controls. Conclusions: This study for the first time found that rs7731626 and rs159572 of ANKRD55 were significantly correlated with HT, and individuals carrying the A allele at these two loci had a lower probability of developing HT.

18.
Front Microbiol ; 13: 825389, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35663877

RESUMO

To demonstrate the detailed genetic characteristics of a bla NDM-1-carrying multidrug-resistant Aeromonas caviae strain, the complete genome of the A. caviae strain K433 was sequenced by Illumina HiSeq and Oxford nanopore platforms, and mobile genetic elements associated with antibiotic resistance genes were analyzed by a series of bioinformatics methods. A. caviae K433 which was determined to produce class B carbapenemase, was resistant to most antibiotics tested except amikacin. The genome of K433 consisted of a chromosome cK433 (6,482-kb length) and two plasmids: pK433-qnrS (7.212-kb length) and pK433-NDM (200.855-kb length), the last being the first investigated bla NDM-carrying plasmid from Aeromonas spp. By comparison of the backbone and MDR regions from the plasmids studied, they involved a highly homologous sequence structure. This study provides in-depth genetic insights into the plasmids integrated with bla NDM-carrying genetic elements from Aeromonas spp.

19.
Comput Math Methods Med ; 2022: 3363672, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35770127

RESUMO

Background: Acute ischemic stroke is one of the most common emergencies in clinical medicine. Prehospital first aid of ischemic stroke has become the focus and focus of the global medical community. The combination of network information technology and prehospital first aid can better serve the treatment of ischemic stroke. Objective: To explore the effect of prehospital emergency nursing model based on network information sharing platform in acute ischemic stroke. Methods: 78 patients with acute ischemic stroke from February 2020 to October 2021 were studied. Patients were randomly divided into study group (n = 39) and control group (n = 39). The control group was given routine first aid nursing. Prehospital first aid nursing based on network information sharing platform was used in the study group. Alarm response time, on-site first aid response time, hospital handover time, National Institutes of Health Stroke scale (NIHSS) at 12 and 24 hours after admission, Glasgow coma scale (GCS) at 12 and 24 hours after admission, incidence of poor prognosis, and nursing satisfaction score at 24 hours after admission were recorded. Results: The emergency response time and hospital handover time in the study group were significantly shorter than those in the control group (P < 0.05). The NIHSS score and the incidence of poor prognosis at 12 and 24 hours after admission in the study group were lower than those in the control group (P < 0.05). The GCS scores at 12 hours and 24 hours after admission in the study group were higher than those in the control group (P < 0.05). The NSNS score of the study group was higher than that of the control group. Conclusion: Prehospital first aid nursing based on network information sharing platform has great application value in patients with acute ischemic stroke. It can shorten the time of first aid, improve patients' consciousness, and reduce the incidence of poor prognosis.


Assuntos
Isquemia Encefálica , Serviços Médicos de Emergência , Enfermagem em Emergência , AVC Isquêmico , Acidente Vascular Cerebral , Isquemia Encefálica/terapia , Humanos , Disseminação de Informação , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/terapia
20.
Lab Chip ; 22(11): 2185-2191, 2022 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-35543209

RESUMO

Engineering high-performance cathodes for high energy-density lithium-sulfur (Li-S) batteries is quite significant to achieve commercialization. Here, we develop a graphene oxide scaffold/sulfur composite-encapsulated microcapsule (GSM) for high-performance Li-S batteries, which is prepared through the co-flow focusing (CFF) approach. The GSM-based cathode displays a high capacity of 1004 mA h g-1 at 0.2C after cycling 200 times, a long-term cycling stability after 1000 cycles at 2C, and a good rate-performance. At temperatures of -5 °C and 45 °C, the electrochemical performance is also excellent. The computational calculations based on density functional theory (DFT) verify the high adsorption energies of the microcapsules towards polysulfides, suppressing the shuttle effect efficiently. It is expected that the GSM system developed based on the CFF method here and its high electrochemical performance will enable it to be applicable for preparing many other emerging energy-storage materials and secondary batteries.

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