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1.
New Phytol ; 238(3): 1059-1072, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36751948

RESUMO

Many plant species can give rise to embryos from somatic cells after a simple hormone treatment, illustrating the remarkable developmental plasticity of differentiated plant cells. However, many species are recalcitrant to somatic embryo formation for unknown reasons, which poses a significant challenge to agriculture, where somatic embryogenesis is an important tool to propagate desired genotypes. The micro-RNA394 (miR394) promotes shoot meristem maintenance in Arabidopsis thaliana, but the underlying mechanisms have remained elusive. We analyzed whether miR394 affects indirect somatic embryogenesis and determined the transcriptome of embryogenic callus upon miR394-enhanced somatic embryogenesis. We show that ectopic miR394 expression enhances somatic embryogenesis in the recalcitrant Ler accession when co-expressed with the transcription factor WUSCHEL (WUS) and that miR394 acts in this process through silencing the target LEAF CURLING RESPONSIVENESS (LCR). Furthermore, we show that higher endogenous miR394 levels are required for the elevated embryogenic potential of the Columbia accession compared with Ler, providing a mechanistic explanation for this natural variation. Our transcriptional analysis provides a framework for miR394 function in regulating pluripotency by expanding WUS-mediated direct transcriptional repression.


Assuntos
Proteínas de Arabidopsis , Arabidopsis , MicroRNAs , Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Diferenciação Celular , Expressão Gênica , Regulação da Expressão Gênica de Plantas , Proteínas de Homeodomínio/genética , Proteínas de Homeodomínio/metabolismo , Plantas/metabolismo
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(1): 96-100, 2023 Jan 10.
Artigo em Zh | MEDLINE | ID: mdl-36585010

RESUMO

OBJECTIVE: To explore the genetic etiology for a child featuring mental retardation, language delay and autism. METHODS: G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. RESULTS: The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. CONCLUSION: The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.


Assuntos
Deficiência Intelectual , Humanos , Criança , Gravidez , Feminino , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Diagnóstico Pré-Natal , Cariotipagem , Bandeamento Cromossômico , Deleção Cromossômica
3.
Anal Chem ; 94(23): 8458-8465, 2022 06 14.
Artigo em Inglês | MEDLINE | ID: mdl-35658117

RESUMO

The global spread of SARS-CoV-2 virus has severely affected human health, life, and work. Vaccine immunization is considered to be an effective means to protect the body from infection. Therefore, timely analysis of the antibody level is helpful to identify people with low immune response or attenuated antibodies so as to carry out targeted and precise vaccine booster immunization. Herein, we develop a magnetofluid-integrated multicolor immunochip, as a sample-to-answer system in a fully enclosed space, for visual analysis of neutralizing antibodies of SARS-CoV-2. Generally, this chip adopts an innovative three-dimensional two-phase system that utilizes mineral oil to block the connection between reagent wells in the vertical direction and provides a wide interface for rapid and nondestructive shuttle of magnetic beads during the immunoassay. In order to obtain visualized signal output, gold nanorods with a size-dependent color effect are used as the colorful chromogenic substrates for evaluation of the antibody level. Using this chip, the neutralizing antibodies were successfully detected in vaccine-immunized volunteers with 83.3% sensitivity and 100% specificity. Furthermore, changes in antibody levels of the same individual over time were also reflected by the multicolor assay. Overall, benefiting from simple operation, airtight safety, and nonrequirement of external equipment, this platform can provide a new point-of-care testing strategy for alleviating the shortage of medical resources and promoting epidemic control in underdeveloped areas.


Assuntos
COVID-19 , SARS-CoV-2 , Anticorpos Neutralizantes , Anticorpos Antivirais , COVID-19/diagnóstico , COVID-19/prevenção & controle , Humanos
4.
J Immunol ; 205(3): 767-775, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32580932

RESUMO

Receptor for advanced glycation end-products (RAGE) and TLR4 play an important role in the inflammatory response against High-mobility group box 1 protein (HMGB1), a late proinflammatory cytokine and a damage-associated molecular pattern. As cell surface receptors, both RAGE and TLR4 are constantly trafficking between the cytoplasm and plasma membrane. However, whether TLR4 is related to the intracellular transport of RAGE in HMGB1-induced inflammation remains unknown. In this study, we demonstrated that HMGB1 not only increased RAGE expression in both the cytoplasm and plasma membrane but also upregulated the expression of TLR4 in the plasma membrane. Knocking out of RAGE led to decreased MAPK activation, TLR4 cellular membrane expression, and corresponding inflammatory cytokine generation. Meanwhile, inhibiting MAPK activation also decreased TLR4 surface expression. These results indicated that HMGB1 may bind to cell surface RAGE receptors on the cell surface, leading to MAPK activation, thus promoting TLR4 translocation on the cell surface, but does not regulate its transcription and translation. In contrast, TLR4 can increase the transcription and translation of RAGE, which translocates to the cell surface and is able to bind to more HMGB1. The cell surface receptors TLR4 and RAGE bind to HMGB1, leading to the transcription and secretion of inflammatory cytokines. Finally, we also observed these results in the mice pseudofracture model, which is closely related to HMGB1-induced inflammatory response. All these results demonstrated that the interplay between RAGE and TLR4 are critical for HMGB1-induced inflammatory response.


Assuntos
Regulação da Expressão Gênica/imunologia , Proteína HMGB1/imunologia , Sistema de Sinalização das MAP Quinases/imunologia , Receptor para Produtos Finais de Glicação Avançada/imunologia , Receptor 4 Toll-Like/imunologia , Animais , Membrana Celular/genética , Membrana Celular/imunologia , Citoplasma/genética , Citoplasma/imunologia , Proteína HMGB1/genética , Inflamação/genética , Inflamação/imunologia , Inflamação/patologia , Sistema de Sinalização das MAP Quinases/genética , Masculino , Camundongos , Camundongos Knockout , Receptor para Produtos Finais de Glicação Avançada/genética , Receptor 4 Toll-Like/genética , Transcrição Gênica/imunologia
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(12): 1410-1414, 2022 Dec 10.
Artigo em Zh | MEDLINE | ID: mdl-36453970

RESUMO

OBJECTIVE: To delineate a small supernumerary marker chromosome (sSMC) derived from chromosome 9 with combined cytogenetic and molecular methods. METHODS: For a pregnant woman with fetal ultrasound revealing left ventricular punctate hyperechoic echo, and a high risk for monosomy or partial deletion of chromosome 8, chromosome 9 trisomy, monosomy or partial deletion of chromosome 11 by non-invasive prenatal testing, and an abnormal MOM value revealed by mid-term serum screening, amniocentesis was performed for G banded chromosomal analysis and single nucleotide polymorphism array (SNP-array) assay. Peripheral blood samples of the woman and her spouse were also collected for the above tests. In addition, the woman was further subjected to C banding karyotyping analysis and fluorescence in situ hybridization (FISH) assay. RESULTS: The G-banded karyotype of the pregnant women was 47,XX,+mar[20]/46,XX[80], whilst C-banding analysis showed a deep stain in the middle of the sSMC (suggestive of centromeric region) and light stain at both ends (suggestive of euchromatism). FISH combined with DAPI banding analysis using 9pter/9qter probes revealed a karyotype of 47,XX,+mar.ish i(9)(9p10)(9p++)[2]/46,XX[18], whilst SNP-array has revealed a 68.1 Mb duplication in the 9p24.3q13 region. A database search has suggested the duplication to be likely pathogenic. No abnormality was found in her fetus and spouse by karyotyping and SNP-array analysis. CONCLUSION: Through combined cytogenetic and molecular genetic analysis, a sSMC derived from chromosome 9 was delineated, which has enabled genetic counseling for the couple.


Assuntos
Cromossomos Humanos Par 9 , Testes Genéticos , Feminino , Humanos , Gravidez , Biomarcadores , Cromossomos Humanos Par 9/genética , Hibridização in Situ Fluorescente , Monossomia
6.
BMC Plant Biol ; 21(1): 123, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33648456

RESUMO

BACKGROUND: The CIPKs are a group of plant-specific Ser/Thr protein kinases acting in response to calcium signaling, which plays an important role in the physiological and developmental adaptation of plants to adverse environments. However, the functions of halophyte-derived CIPKs are still poorly understood, that limits a potential application of CIPKs from halophytes for improving the tolerance of glycophytes to abiotic stresses. RESULTS: In this study, we characterized the NtCIPK11 gene from the halophyte Nitraria tangutorum and subsequently analyzed its role in salt and drought stress tolerance, using Arabidopsis as a transgenic model system. NtCIPK11 expression was upregulated in N. tangutorum root, stem and blade tissues after salt or drought treatment. Overexpressing NtCIPK11 in Arabidopsis improved seed germination on medium containing different levels of NaCl. Moreover, the transgenic plants grew more vigorously under salt stress and developed longer roots under salt or drought conditions than the WT plants. Furthermore, NtCIPK11 overexpression altered the transcription of genes encoding key enzymes involved in proline metabolism in Arabidopsis exposed to salinity, however, which genes showed a relatively weak expression in the transgenic Arabidopsis undergoing mannitol treatment, a situation that mimics drought stress. Besides, the proline significantly accumulated in NtCIPK11-overexpressing plants compared with WT under NaCl treatment, but that was not observed in the transgenic plants under drought stress caused by mannitol application. CONCLUSIONS: We conclude that NtCIPK11 promotes plant growth and mitigates damage associated with salt stress by regulating the expression of genes controlling proline accumulation. These results extend our understanding on the function of halophyte-derived CIPK genes and suggest that NtCIPK11 can serve as a candidate gene for improving the salt and drought tolerance of glycophytes through genetic engineering.


Assuntos
Genes de Plantas , Magnoliopsida/genética , Proteínas Serina-Treonina Quinases/genética , Aclimatação/genética , Arabidopsis/fisiologia , Calcineurina/química , Biologia Computacional , Secas , Perfilação da Expressão Gênica , Técnicas de Transferência de Genes , Haplótipos , Magnoliopsida/enzimologia , Magnoliopsida/fisiologia , Plantas Geneticamente Modificadas , Prolina/metabolismo , Proteínas Serina-Treonina Quinases/fisiologia , Tolerância ao Sal/genética
7.
J Med Virol ; 93(8): 5025-5032, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33634873

RESUMO

Determination of human cytomegalovirus IgG (HCMV IgG) level is of great importance in the diagnosis of HCMV infections. In this study, a novel, double antigen sandwich homogeneous immunoassay-based light-initiated chemiluminescent assay (LICA) for measuring HCMV IgG serum levels was developed. This sandwich LICA for HCMV IgG was performed by incubating serum samples with HCMV pp150 protein coated with chemibeads, streptavidin-coated sensibeads, and biotinylated HCMV pp150 protein. The working conditions of this assay were optimized and the correlation between the results of the LICA and enzyme-linked immunosorbent assay was evaluated. As a homogeneous immunoassay, this sandwich LICA could accurately and rapidly determine the serum levels of HCMV IgG with a high-throughput. Thus, this newly developed assay could be a useful analytical tool in the clinical diagnosis of HCMV infections.


Assuntos
Anticorpos Antivirais/sangue , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/isolamento & purificação , Imunoglobulina G/sangue , Medições Luminescentes , Citomegalovirus/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Imunoensaio , Masculino , Reprodutibilidade dos Testes , Testes Sorológicos
8.
Sensors (Basel) ; 21(18)2021 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-34577416

RESUMO

An application based on a microservice architecture with a set of independent, fine-grained modular services is desirable, due to its low management cost, simple deployment, and high portability. This type of container technology has been widely used in cloud computing. Several methods have been applied to container-based microservice scheduling, but they come with significant disadvantages, such as high network transmission overhead, ineffective load balancing, and low service reliability. In order to overcome these disadvantages, in this study, we present a multi-objective optimization problem for container-based microservice scheduling. Our approach is based on the particle swarm optimization algorithm, combined parallel computing, and Pareto-optimal theory. The particle swarm optimization algorithm has fast convergence speed, fewer parameters, and many other advantages. First, we detail the various resources of the physical nodes, cluster, local load balancing, failure rate, and other aspects. Then, we discuss our improvement with respect to the relevant parameters. Second, we create a multi-objective optimization model and use a multi-objective optimization parallel particle swarm optimization algorithm for container-based microservice scheduling (MOPPSO-CMS). This algorithm is based on user needs and can effectively balance the performance of the cluster. After comparative experiments, we found that the algorithm can achieve good results, in terms of load balancing, network transmission overhead, and optimization speed.

9.
FASEB J ; 33(4): 5126-5142, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30668920

RESUMO

People with the genetic disease cystic fibrosis (CF) often carry a deletion mutation ΔF508 on the gene encoding the CF transmembrane conductance regulator (CFTR) Cl- channel. This mutation greatly reduces the CFTR maturation process and slows the channel opening rate. Here, we investigate whether residues near F508 contribute to these defects in ΔF508-CFTR. Most deletion mutations, but not alanine substitutions, of individual residues from positions 503 to 513 impaired CFTR maturation. Interestingly, only protein processing of ΔY512-CFTR, like that of ΔF508-CFTR, was greatly improved by low-temperature culture at 27°C or small-molecule corrector C18. The 2 mutant Cl- channels were equally slow to open, suggesting that they may share common structural flaws. Studies on the H3-H4 loop that links residues F508 and Y512 demonstrate that G509A/V510G mutations, moving G509 1 position backward in the loop, markedly enhanced ΔF508-CFTR maturation and opening rate while promoting protein stability and persistence of the H3 helix in ΔF508 nucleotide-binding domain 1. Moreover, V510A/S511A mutations noticeably increased ΔY512-CFTR maturation at 27°C and its opening rate. Thus, loop abnormalities may contribute to ΔF508- and ΔY512-CFTR defects. Importantly, correcting defects from G509 displacement in ΔF508-CFTR may offer a new avenue for drug discovery and CF treatments.-Chen, X., Zhu, S., Zhenin, M., Xu, W., Bose, S. J., Wong, M. P.-F., Leung, G. P. H., Senderowitz, H., Chen, J.-H. A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/etiologia , Fibrose Cística/genética , Temperatura Baixa , Eletrofisiologia , Humanos , Immunoblotting , Simulação de Dinâmica Molecular , Mutação/genética , Plasmídeos/genética , Estabilidade Proteica , Estrutura Secundária de Proteína , Deleção de Sequência/genética
10.
Guang Pu Xue Yu Guang Pu Fen Xi ; 34(7): 1789-92, 2014 Jul.
Artigo em Zh | MEDLINE | ID: mdl-25269281

RESUMO

In the present paper, we report the research on the effects of annealing temperature on the crystal quality and optical properties of ZnMgO films deposited by atom layer deposition(ALD). ZnMgO films were prepared on quartz substrates by ALD and then some of the samples were treated in air ambient at different annealing temperature. The effects of annealing temperature on the crystal quality and optical properties of ZnMgO films were characterized by X-ray diffraction (XRD), photoluminescence (PL) and ultraviolet-visible (UV-Vis) absorption spectra. The XRD results showed that the crystal quality of ZnMgO films was significantly improved when the annealing temperature was 600 degrees C, meanwhile the intensity of(100) diffraction peak was the strongest. Combination of PL and UV-Vis absorption measurements showed that it can strongly promote the Mg content increasing in ZnMgO films and increase the band gap of films. So the results illustrate that suitable annealing temperature can effectively improve the crystal quality and optical properties of ZnMgO films.

11.
Front Endocrinol (Lausanne) ; 15: 1348248, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38586450

RESUMO

Background: The causal association between thyroid dysfunction (including hyperthyroidism and hypothyroidism) and sepsis is controversial in previous studies. Therefore, we used Mendelian randomization (MR) to explore the causal association between hyperthyroidism or hypothyroidism and the susceptibility to four distinct subtypes of sepsis (streptococcal sepsis, puerperal sepsis, asthma-associated pneumonia or sepsis, and other sepsis). Methods: In our research, we conducted two-sample Mendelian randomization (MR) analyses utilizing publicly available genome-wide association studies (GWAS) data from Sakaue et al. and the Finnish database to investigate the potential causal associations between hyperthyroidism, hypothyroidism, and each of the four distinct subtypes of sepsis, in addition to reverse MR analyses of the positive results to examine the existence of reverse causality. Results: Genetic hypothyroidism was causally related to the development of asthma-associated pneumonia or sepsis (ORIVW: 1.097, 95% CI: 1.024 to 1.174, P = 0.008); hypothyroidism was significantly associated with the development of other sepsis (ORIVW: 1.070, 95% CI: 1.028 to 1.115, P < 0.001). In addition, sensitivity analysis substantiated the robustness of these two MR findings, with no evidence of horizontal pleiotropy observed (P > 0.05). MR Egger regression analysis demonstrated no heterogeneity between instrumental variables (IVs). Inverse MR results confirmed no reverse causality between hypothyroidism and asthma-associated pneumonia or sepsis, or between hypothyroidism and other sepsis. The findings of this study also unveiled that there is no evidence of a causal link between hypothyroidism and the development of streptococcal sepsis or puerperal sepsis. Additionally, the research provided evidence indicating the absence of a causal relationship between hyperthyroidism and streptococcal sepsis, puerperal sepsis, asthma-associated pneumonia or sepsis, and other sepsis. Conclusions: This study identified a causal link between hypothyroidism and the occurrence of asthma-associated pneumonia or sepsis, and other sepsis, but not with the development of streptococcal sepsis and puerperal sepsis. Moreover, our findings did not reveal any causal association between hyperthyroidism and streptococcal sepsis, puerperal sepsis, asthma-associated pneumonia or sepsis, and other sepsis.


Assuntos
Asma , Hipertireoidismo , Hipotireoidismo , Pneumonia , Sepse , Humanos , Estudo de Associação Genômica Ampla , Análise da Randomização Mendeliana , Sepse/complicações , Sepse/genética , Asma/complicações , Asma/genética
12.
Birth Defects Res ; 116(5): e2351, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38766695

RESUMO

BACKGROUND: Pathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype-phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA. METHODS: Enrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non-isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses. RESULTS: Karyotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non-isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05). CONCLUSION: The present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.


Assuntos
Variações do Número de Cópias de DNA , Cariotipagem , Análise em Microsséries , Osso Nasal , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Humanos , Feminino , Osso Nasal/diagnóstico por imagem , Osso Nasal/anormalidades , Gravidez , Análise em Microsséries/métodos , Adulto , Diagnóstico Pré-Natal/métodos , Variações do Número de Cópias de DNA/genética , Cariotipagem/métodos , Feto , Aberrações Cromossômicas/embriologia , Ultrassonografia Pré-Natal/métodos , Estudos de Associação Genética/métodos
13.
Sci Rep ; 14(1): 2271, 2024 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-38280885

RESUMO

Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype-phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal the pathogenic CNVs (pCNVs) that were associated with fetal CNS anomalies. We enrolled 5,460 pregnant women with different high-risk factors who had undergone CMA. Among them, 57 subjects with fetal CNS anomalies were recruited. Of the subjects with fetal CNS anomalies, 23 were given amniocentesis, which involved karyotype analysis and CMA to detect chromosomal abnormalities. The other 34 cases only underwent CMA detection using fetal abortive tissue. In this study, we identified five cases of chromosome aneuploid and nine cases of pCNVs in the fetuses, with a chromosomal aberration detection rate of 24.56% (14/57). In the 23 cases that were given both karyotype and CMA analysis, one case with trisomy 18 was detected by karyotyping. Moreover, CMA revealed a further three cases of pCNVs, including the 1p36.33p36.31, 7q11.23, and 1q21.1q21.2 microdeletions, with a 13.04% (3/23) increase in CMA yield over the karyotype analysis. Additionally, three cases of trisomy 13, one case of trisomy 21, and six cases of pCNVs were detected in the other 34 fetuses where only CMA was performed. Furthermore, a higher chromosomal aberration detection rate was observed in the extra CNS anomaly group than in the isolated CNS anomaly group (40.91% vs 14.29%). In conclude, several pathogenic CNVs were identified in the fetuses with CNS anomalies using CMA. Among the detected CNVs, ZIC2, GNB1, and NSUN5 may be the candidate genes that responsible for fetal CNS anomalies. Our findings provides an additional reference for genetic counseling regarding fetal CNS anomalies and offers further insight into the genotype-phenotype relationship.


Assuntos
Doenças do Sistema Nervoso Central , Malformações do Sistema Nervoso , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Diagnóstico Pré-Natal , Aberrações Cromossômicas , Cariotipagem , Análise em Microsséries , Feto/anormalidades , Cariótipo , Variações do Número de Cópias de DNA/genética
14.
Front Nutr ; 11: 1308384, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38481972

RESUMO

Quinoa is a highly nutritious whole-grain crop with unique values as both a food and medicinal supplement. At present, the roles played by the intestinal microflora in human health are gaining considerable attention from the research community, and studies to date have shown that the occurrence of a range of diseases may be associated with an imbalance of the intestinal flora. The bioactive compounds of quinoa affect the production of SCFAs and the adjustment of intestinal pH. In this article, we review the mechanisms underlying the effects of different quinoa constituents on the intestinal flora, the effects of these constituents on the intestinal flora of different hosts, and progress in research on the therapeutic properties of quinoa constituents, to provide a better understanding of quinoa in terms its dual medicinal and nutritional properties. We hope this review will provide a useful reference for approaches that seek to enhance the composition and activities of the intestinal flora.

15.
Pediatr Rheumatol Online J ; 22(1): 4, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38166957

RESUMO

A rare case of coronary artery involvement in a child with Systemic Juvenile Idiopathic Arthritis (sJIA) complicated by Macrophage Activation Syndrome (MAS) is reported. The patient initially received an inaccurate diagnosis of Kawasaki Disease, sepsis, and mycoplasma infection and showed no improvement after Intravenous Immune Globulin (IVIG) treatment. Upon admission, symptoms included diffuse red rash, swelling of the limbs, lymph node enlargement, and hepatosplenomegaly. Post investigations, a diagnosis of sJIA and MAS was confirmed, and treatment involved a combination of hormones (methylprednisolone) and immunosuppressive drugs (methotrexate). The revealed widened coronary artery diameter was managed with a disease-specific treatment plan and prophylactic plus low-dose aspirin anti-coagulation therapy. Under this management, MAS was well controlled, and follow-ups showed normalization of the child's coronary artery structure and function. This case and the associated literature review underscore the importance of early recognition, diagnosis, treatment, and long-term monitoring for children presenting with sJIA and MAS complicated by coronary artery involvement.


Assuntos
Artrite Juvenil , Síndrome de Ativação Macrofágica , Criança , Humanos , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/tratamento farmacológico , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/etiologia , Síndrome de Ativação Macrofágica/tratamento farmacológico , Vasos Coronários/diagnóstico por imagem , Imunossupressores/uso terapêutico , Metotrexato/uso terapêutico
16.
Mol Cytogenet ; 16(1): 18, 2023 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-37533110

RESUMO

BACKGROUND: Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present a Chinese pediatric patient with terminal 4q35.2 microdeletion and use this case to clarify the underlying genotype-phenotype correlation. METHODS: A 17-year-old boy from Quanzhou, South China, was recruited as the main subject in this study. Karyotype and single-nucleotide polymorphism (SNP) based microarray analysis were carried out to detect chromosomal abnormalities and copy number variants in this family. Trio whole exome sequencing (Trio-WES) was performed to investigate the potential pathogenic variant in this family. RESULTS: During observation, we identified abnormal clinical phenotypes including upper eyelid ptosis, motor developmental delay, abnormal posturing, abnormality of coordination, attention deficit hyperactivity disorder, and involuntary movements in the patient. SNP array analysis results confirmed a case of 2.0 Mb 4q35.2 microdeletion and parental SNP array verification results indicated that the terminal 4q35.2 microdeletion was inherited from his mother. No copy number variants were detected in his father. In addition, the trio-WES results demonstrated none of pathogenic or likely pathogenic variants in the patient. CONCLUSIONS: This study brings a novel analysis of a case of 2.0 Mb terminal 4q35.2 microdeletion affecting a Chinese individual. In addition, additional clinical symptoms such as upper eyelid ptosis and involuntary movements were first reported to affect a patient with terminal 4q35.2 microdeletion, which may broaden the phenotype spectrum of the condition.

17.
Complement Ther Med ; 76: 102968, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37562658

RESUMO

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is one of the most common neurological and mental developmental disorders in children. Published systematic reviews (SRs) and meta-analyses (MAs) concerning the use of acupuncture for ADHD have compared the efficacy of acupuncture treatment to that of drug therapies. However, the quality of these articles has not been evaluated and the evidence varies widely. OBJECTIVE: To summarize and assess the efficacy of acupuncture for ADHD based on existing SRs and MAs. METHODS: A systematic search of the literature was conducted from inception until September 16 2021, using seven electronic databases. The AMSTAR-2 tool was used to evaluate the quality of SRs and MAs, and the GRADE system was used to assess the quality of evidence. RESULTS: There are a total of five SRs and MAs included in this overview. Using the AMSTAR-2, three articles were rated as having 'Low' quality, while two were rated as having of 'Critically Low' quality. The GRADE system was used to measure the quality of evidence for ten outcomes (five response rate outcomes, three Conners' Index of Hyperactivity (CIH) score outcomes, one Conners' rating scale score outcome, and one Chinese medicine syndrome outcome) across the five included MAs. Four of the ten outcomes demonstrated 'moderate' quality, four demonstrated 'low' quality, and two demonstrated 'very low' quality. The risk of bias and inconsistency accounted for most downgrading factors in the included reviews. CONCLUSION: It is still debatable whether acupuncture is efficacious in improving the CIH score and the Response rate. Considering the heterogeneity of clinical trials and the fact that this study did not search and evaluate the relevant data of each randomized controlled trial, large-sample and high-quality randomized controlled trials are still needed to draw reliable conclusions regarding acupuncture's role in treating ADHD. Due to the poor quality of existing available evidence, little inference can be drawn from the included studies.


Assuntos
Terapia por Acupuntura , Transtorno do Deficit de Atenção com Hiperatividade , Criança , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Ensaios Clínicos Controlados Aleatórios como Assunto , Síndrome , Revisões Sistemáticas como Assunto , Metanálise como Assunto
18.
Plants (Basel) ; 12(14)2023 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-37514224

RESUMO

The phytohormone abscisic acid (ABA) plays important roles in response to abiotic and biotic stresses in plants. Pyrabactin resistance 1-like (PYR/PYL) proteins are well-known as ABA receptors, which are responsible for ABA signal transduction. Nevertheless, the characteristics of PYL genes from Liriodendron chinense, an endangered timber tree, remain unclear in coping with various stresses. In this study, five PYLs were identified from the genome of Liriodendron chinense by sequence alignment and conserved motif analysis, which revealed that these LcPYLs contain a conserved gate and latch motif for ABA binding. The LcPYL promoters possess a series of cis-acting elements involved in response to various hormone and abiotic stresses. Moreover, the transcriptome data of Liriodendron hybrid leaves reveal that LcPYL genes specifically transcript under different abiotic stresses; Lchi11622 transcription was induced by drought and cold treatment, and Lchi01385 and Lchi16997 transcription was upregulated under cold and hot stress, respectively. Meanwhile, the LcPYLs with high expression levels shown in the transcriptomes were also found to be upregulated in whole plants treated with the same stresses tested by qPCR. Moreover, under biotic stress caused by scale insect and whitefly, Liriodendron hybrid leaves exhibited a distinct phenotype including disease spots that are dark green in the middle and yellow on the margin; the qPCR results showed that the relative expression levels of Lchi13641 and Lchi11622 in infected leaves were upregulated by 1.76 and 3.75 folds relative to normal leaves, respectively. The subcellular localizations of these stress-responsive LcPYLs were also identified in protoplasts of Liriodendron hybrid. These results provide a foundation to elucidate the function of PYLs from this elite tree species and assist in understanding the molecular mechanism of Liriodendron hybrid in dealing with abiotic and biotic stresses. In future research, the detailed biological function of LcPYLs and the genetic redundancy between LcPYLs can be explored by gene overexpression and knockout based on this study.

19.
Plants (Basel) ; 12(6)2023 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-36987041

RESUMO

AT-hook motif nuclear localized (AHL) is a transcription factor that can directly induce plant somatic embryogenesis without adding exogenous hormones. One of its functional domains, the AT-hook motif, has a chromatin-modifying function and participates in various cellular processes, including DNA replication and repair and gene transcription leading to cell growth. Liriodendron chinense (Hemsl.) Sargent is an important ornamental and timber tree in China. However, its low drought-resistant ability further leads to a low natural growth rate of its population. Based on bioinformatics analysis, this study identified a total of 21 LcAHLs in L. chinense. To explore the expression pattern of the AHL gene family under drought and somatic embryogenesis, we performed a systematic analysis including basic characteristics, gene structure, chromosome localization, replication event, cis-acting elements and phylogenetic analyses. According to the phylogenetic tree, the 21 LcAHL genes are divided into three separate clades (Clade I, II, and III). Cis-acting element analysis indicated the involvement of the LcAHL genes in drought, cold, light, and auxin regulation. In the generated drought stress transcriptome, a total of eight LcAHL genes showed increased expression levels, with their expression peaking at 3 h and leveling off after 1 d. Nearly all LcAHL genes were highly expressed in the process of somatic embryogenesis. In this study, we performed a genome-wide analysis of the LcAHL gene family and found that LcAHLs take part in resistance to drought stress and the development of somatic embryos. These findings will provide an important theoretical basis for understanding of the LcAHL gene function.

20.
Front Med (Lausanne) ; 10: 1240340, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37706028

RESUMO

Background: Measurements of IgG antibodies to wild-type SARS-CoV-2 antigens can assess vaccine efficacy, but the absolute risk of Omicron symptomatic infection at different IgG levels for children and adolescents remains uncertain, as well as the minimum effective antibody level. We sought to determine the relationship between the tertiles of IgG antibodies to wild-type SARS-CoV-2 antigens and children with symptomatic infection of the pandemic and duration to negative conversion in China for the first time. Methods: A retrospective study was conducted, including 168 participants under 18 years old from the No.2 People's Hospital of Lanzhou, China, diagnosed with Omicron variant BA.2.38 between July 8, 2022, and August 2, 2022. We calculated odds ratios (OR) in univariate and multivariate regression to assess the association of symptomatic infection with the tertiles of IgG, respectively. Kaplan-Meier curves and Cox proportional hazards regression were used to evaluate the relationship between IgG level and negative conversion time. Results: The average age of the 168 children included in this study was 7.2 (4.7) years old, 133 (79.2%) were symptomatic patients, and the average negative conversion time was 12.2 (3.5) days. The participants with high IgG levels were less likely to become symptomatic, had a shorter turnaround time, and had higher values of IgM and nucleic acid CT. Compared to those with the lowest tertile of IgG, patients with the highest tertile had a 91% lower risk of developing a symptomatic infection after fully adjusting for confounders (OR = 0.09, 95% CI, 0.02-0.36, p = 0.001). There's no robust relationship between IgG level and negative conversion time in multivariate Cox regression. Conclusion: The risk of developing a symptomatic infection can be predicted independently by tertiles of IgG antibodies to wild-type SARS-CoV-2 antigens. High IgG levels can inhibit viral replication, vastly reduce the risk of symptomatic infections and promote a virus-negative conversion, especially when IgG quantitative detection was ≥3.44 S/CO, a potential threshold for protection and booster strategy in the future. More data and research are needed in the future to validate the predictive models.

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