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1.
Clin Exp Immunol ; 216(2): 200-210, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38290436

RESUMO

Mucosal bile acid (BA) profile is still unestablished in diarrhea-predominant irritable bowel syndrome (IBS-D). The aim of this study was to explore colonic mucosal BAs and their associations with mucosal mast cell (MMC)-derived nerve growth factor (NGF) and bowel symptoms in IBS-D. Colonic mucosal biopsies from 36 IBS-D patients and 35 healthy controls (HCs) were obtained for targeted BA profiling. MMC count and the expression of NGF and tight junction proteins (TJPs) were examined. We found that colonic mucosal BA profile was altered in the IBS-D cohort. The proportion of primary BAs was significantly higher and that of secondary BAs was lower in IBS-D patients. According to the 90th percentile of total mucosal BA content of HCs, IBS-D patients were divided into BA-H (n = 7, 19.4%) and BA-L (n = 29, 80.6%) subgroups. BA-H patients showed significantly higher total mucosal BA content compared to BA-L subgroup and HCs. The mucosal content of 11 BA metabolites significantly increased in BA-H subgroup, e.g. cholic acid (CA) and taurocholic acid (TCA). Moreover, BA-H patients displayed significantly elevated MMC count and NGF expression, with decreased expression of TJPs (claudin-1, junctional adhesion molecule-A and zonula occludens-1). Correlation analyses revealed that mucosal TCA content positively correlated with MMC count, MMC-derived NGF levels, and abdominal pain while negatively correlated with TJP expression. In conclusion, IBS-D patients showed an altered BA profile in the colonic mucosa. Approximately 20% of them exhibit elevated mucosal BA content, which may be associated with MMC-derived NGF signaling and bowel symptoms.

2.
BMC Geriatr ; 24(1): 522, 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38880897

RESUMO

BACKGROUND: IgG4-related diseases are very uncommon, and its diagnosis and treatment are complicated as it encompasses multiple disciplines. CASE PRESENTATION: A 77-year-old woman was admitted with a jaw mass and nausea and vomiting. Laboratory tests showed elevated serum IgG4, pituitary MRI suggested thickening of the pituitary stalk, and head and neck CT suggested orbital and mandibular masses. Patients with mandibular mass were diagnosed with Mikulicz's disease with IgG4-related hypophysitis. We found no other evidence of causing thickening of the pituitary stalk. She was given oral prednisolone 30 mg daily, and her nausea and vomiting improved significantly, and the mandibular and ocular masses decreased in size. CONCLUSION: Mikulicz's disease combined with IgG4-related hypophysitis is a rare case of IgG4-RD in elderly women. IgG4-RD is one of the causes of head and neck exocrine gland mass and pituitary stalk thickening in the elderly.


Assuntos
Hipofisite Autoimune , Doença Relacionada a Imunoglobulina G4 , Doença de Mikulicz , Humanos , Idoso , Feminino , Doença de Mikulicz/tratamento farmacológico , Doença de Mikulicz/complicações , Doença de Mikulicz/diagnóstico , Doença Relacionada a Imunoglobulina G4/complicações , Doença Relacionada a Imunoglobulina G4/tratamento farmacológico , Doença Relacionada a Imunoglobulina G4/diagnóstico , Hipofisite Autoimune/complicações , Hipofisite Autoimune/tratamento farmacológico , Imunoglobulina G/sangue , Prednisolona/uso terapêutico , Prednisolona/administração & dosagem , Imageamento por Ressonância Magnética/métodos
3.
Molecules ; 29(5)2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38474592

RESUMO

This article reports three new two-photon absorption (TPA) materials that are quinolinium-carbazole derivates. They are 3-(N-methyl-4-ethylquinolinium iodide)-9-ethylcarbazole (M4), 3-(N-methyl-4-ethylquinolinium iodide)-9-ethylcarbazole (H2), and 3-(N-methyl-4-ethylquinolinium iodide)-9-ethylcarbazole (H4). Their TPA cross-sections are 491, 515, and 512 GM, respectively. Under the excitation of near-infrared light, their fluorescence emission is about 650 nm. The compounds can stain nucleic acid DNA with the same level of nuclear localization as Hoechst 33342. Under continuous irradiation with a near-infrared laser, the three new compounds showed less fluorescence decay than DAPI, and the average fluorescence decay rates were 0.016%/s, 0.020%/s, and 0.023%/s. They are expected to become new two-photon fluorescent probes of nucleic acid DNA because of their excellent performance.


Assuntos
Iodetos , Fótons , Fluorescência , Carbazóis , DNA , Raios Infravermelhos , Sondas de Ácido Nucleico , Corantes Fluorescentes
4.
Eur Radiol ; 33(12): 8597-8604, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37405503

RESUMO

OBJECTIVES: Assess the feasibility of using gadobutrol-based steady-state (SS) MR angiography (MRA) to evaluate the blood supply changes of osteonecrosis of the femoral head (ONFH). MATERIALS AND METHODS: Participants were recruited in this prospective study from December 2021 to May 2022 in a single center. The number of superior retinacular arteries (SRAs), inferior retinacular arteries (IRAs), anterior retinacular arteries (ARAs), and overall retinacular arteries (ORAs), as well as the affected rates of SRA and IRA, were determined and compared between healthy and ONFH hips and between hips across the Association Research Circulation Osseous (ARCO) staging I-IV. RESULTS: Twenty healthy and 64 ONFH hips were evaluated in 54 participants. There were significant differences between ARCO I-IV for the number of ORAs (mean of 3.5, 2.3, 1.7, and 0.8 for ARCO I-IV, respectively; p < .001), SRAs (median of 2.5, 1, 0.5, and 0 for ARCO I-IV, respectively; p < .001), and the affected rate of SRAs (20.00%, 65.22%, 77.78%, 92.31% for ARCO I-IV, respectively, p = 0.002). There were significant differences between ONFH and healthy hips for the number of ORAs (median of 5 vs. 2; p < .001), SRAs (median of 3 vs. 1; p < .001), IRAs (median of 1 vs. 1; p < .001), ARAs (median of 0 vs. 0; p = 0.04), and also the affected rate of SRAs (5.00% vs. 67.20%, p < .001) and IRAs (30% vs. 84.4%, p < .001). CONCLUSION: Gadobutrol-enhanced SS MRA is a feasible method for evaluation of hemodynamics in ONFH. CLINICAL RELEVANCE STATEMENT: Gadobutrol-enhanced magnetic resonance angiography can evaluate blood supply changes of ONFH and therefore helps to aid in the diagnosis and guide treatment of ONFH. KEY POINTS: • Gadobutrol-enhanced magnetic resonance angiography showed changes in the retinacular artery related to the severity of femoral osteonecrosis. • Gadobutrol-enhanced magnetic resonance angiography revealed a reduced blood supply to the ischemic necrotic femoral head compared to the healthy counterparts.


Assuntos
Necrose da Cabeça do Fêmur , Cabeça do Fêmur , Humanos , Cabeça do Fêmur/diagnóstico por imagem , Estudos Prospectivos , Necrose da Cabeça do Fêmur/diagnóstico por imagem , Necrose da Cabeça do Fêmur/terapia , Angiografia por Ressonância Magnética
5.
Analyst ; 148(10): 2343-2351, 2023 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-37185609

RESUMO

Helicases are crucial enzymes in DNA and RNA metabolism and function by unwinding particular nucleic acid structures. However, most convenient and high-throughput helicase assays are limited to the typical duplex DNA. Herein, we developed an immunosorbent assay to monitor the Werner syndrome (WRN) helicase unwinding a wide range of DNA structures, such as a replication fork, a bubble, Holliday junction, G-quadruplex and hairpin. This assay could sensitively detect the unwinding of DNA structures with detection limits around 0.1 nM, and accurately monitor the substrate-specificity of WRN with a comparatively less time-consuming and high throughput process. Remarkably, we have established that this new assay was compatible in evaluating helicase inhibitors and revealed that the inhibitory effect was substrate-dependent, suggesting that diverse substrate structures other than duplex structures should be considered in discovering new inhibitors. Our study provided a foundational example for using this new assay as a powerful tool to study helicase functions and discover potent inhibitors.


Assuntos
RecQ Helicases , Síndrome de Werner , Humanos , RecQ Helicases/genética , RecQ Helicases/metabolismo , Imunoadsorventes , Replicação do DNA , Helicase da Síndrome de Werner/genética , Helicase da Síndrome de Werner/metabolismo , Exodesoxirribonucleases/metabolismo , DNA/química , Síndrome de Werner/genética
6.
Mol Breed ; 43(8): 61, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37496827

RESUMO

Near isogenic F2 (NIF2) population frequently developed by conventional backcross has dramatically contributed to QTL identification in plants. Developing such a NIF2 population is time-consuming. Thus, it is urgent to rapidly produce a NIF2 population for QTL cloning. Here, we proposed a rapid QTL cloning strategy by generating a Pseudo-near isogenic F2 population (Pseudo-NIF2), which segregates at the target QTL but is fixed at other QTLs for the target trait. Nineteen QTLs for GL, GW, and TGW were detected in the F2 population from the cross between Zhenshan 97 and Egy316. To verify the efficiency of Pseudo-NIF2 in QTL quick cloning, the novel moderate QTL qGL10.1 which explained 9.1% and 5.6% of grain length variation in F2 and F2:3 populations was taken as an example. An F2 plant (F2-120), which segregated at qGL10.1 but fixed at other 8 QTLs for grain length, was screened to generate a Pseudo-NIF2 population by selfing cross. In the Pseudo-NIF2 population, the segregation ratio of plants with long grains to short grains fits 3:1, indicating that one gene controlled the variation of grain length. Based on the Pseudo-NIF2 and its progeny, qGL10.1 was fine mapped to a 19.3-kb region, where a gene OsMADS56 was verified as the candidate by functional polymorphism between parental alleles. Pseudo-NIF2 strategy is a rapid way for QTL cloning, which saves 3 to 4 cropping seasons compared to the conventional way. Applying the method for cloning QTL with moderate or major effects is promising. Supplementary Information: The online version contains supplementary material available at 10.1007/s11032-023-01408-x.

7.
Pestic Biochem Physiol ; 190: 105334, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36740342

RESUMO

Bursaphelenchus xylophilus is the causative agent of pine wilt disease. It has caused devastating damage to ecosystems worldwide, owing to the characteristic of being widely spread and uncontrollable. However, the current methods of control are mainly based on pesticides, which can cause irreversible damage to the ecosystem. Therefore, the search for new drug targets and the development of environmentally friendly nematicides is especially valuable. In this study, three key genes of the xenobiotic detoxification pathways were cloned from B. xylophilus, which were subsequently subjected to bioinformatic analysis. The bioassay experiment was carried out to determine the concentration of matrine required for further tests. Subsequently, enzyme activity detection and three gene expression pattern analysis were performed on matrine treated nematodes. Finally, RNA interference was conducted to verify the functions carried out by the three genes in combating matrine. The results indicated that cytochrome P450 and glutathione S-transferase of B. xylophilus were activated by matrine, which induced high expression of BxCYP33C4, BxGST1, and BxGST3. After RNA interference of three genes of B. xylophilus, the sensitivity of B. xylophilus to matrine was increased and the survival rate of nematodes was reduced to various degrees in comparison to the control group. Overall, the results fully demonstrated that BxCYP33C4, BxGST1, and BxGST3 are valuable drug targets for B. xylophilus. Furthermore, the results suggested that matrine has value for development and exploitation in the prevention and treatment of B. xylophilus.


Assuntos
Ecossistema , Tylenchida , Animais , Matrinas , Xylophilus , Xenobióticos/toxicidade , Xenobióticos/metabolismo , Tylenchida/genética , Tylenchida/metabolismo , Doenças das Plantas/prevenção & controle
8.
Fish Shellfish Immunol ; 120: 599-609, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34968707

RESUMO

Pseudomonas plecoglossicida is a well-known pathogen of viscera granulomas disease in fish, which has led to severe economic losses. In our previous study, L321_RS13075 was predicted to be a key virulence gene of P. plecoglossicida during the host-pathogen interaction with Epinephelus coioides. To investigate the role of L321_RS13075 in the regulation of virulence in P. plecoglossicida, a L321_RS13075 knock-down strain was constructed. And a significant reduction in the ability of colonization, intracellular survival, motility, biofilm formation, and adhesion was detected in the L321_RS13075 knock-down strain. Compared with the wild-type strain, the silence of L321_RS13075 in P. plecoglossicida resulted in a significant change in the transcriptome of infected Epinephelus coioides (E. coioides). Results of COG and GO analysis on E. coioides showed that genes related to immune responses and inorganic ion transport were significantly affected by L321_RS13075 of P. plecoglossicida. Meanwhile, the interactions of the genes related to immune responses and inorganic ion transport were predicted, and the important hub genes were identified. Taken together, the results indicated that L321_RS13075 was a virulent gene of P. plecoglossicida, which significantly affected the immune responses and inorganic ion transport in E. coioides.


Assuntos
Bass , Doenças dos Peixes , Infecções por Pseudomonas/veterinária , Pseudomonas/genética , Animais , Proteínas de Bactérias/genética , Bass/imunologia , Doenças dos Peixes/microbiologia , Imunidade , Transporte de Íons , Pseudomonas/patogenicidade , Infecções por Pseudomonas/microbiologia
9.
Acta Clin Croat ; 61(2): 193-197, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36818924

RESUMO

The aim was to investigate detection of pulmonary alveolar lavage fluid tuberculosis DNA by real-time fluorescent polymerase chain reaction (RT-PCR) combined with clinical application of the sputum smear-negative pulmonary tuberculosis diagnosis with TB interferon-γ release assay (TB-IGRA). From October 2014 to October 2015, 632 outpatients and inpatients treated in our hospital were randomly selected, of which 459 patients as the research group managed with RT-PCR detection combined with TB-IGRA and 173 patients as the control group undergoing electronic bronchoscopy alveolar lavage fluid detection, with detection results statistically evaluated. The positive rate in the research group was 96.51%, i.e. significantly higher than that in the control group (66.47%), yielding a statistically significant difference (χ2=109.68, p=0.00). The true positive rate was 97.7% in the research group and 67.92% in the control group; the true positive rate was significantly higher in the research group patients as compared with the control group, yielding a statistically significant difference (χ2=112.04, p=0.00). The sensitivity and specificity, as well as Youden index were significantly higher in the research group as compared with the control group. In conclusion, TB DNA detection by RT-PCR combined with TB-IGRA is a very good method of diagnosing tuberculosis, and it can be implemented in clinical diagnosis of pulmonary tuberculosis.


Assuntos
Mycobacterium tuberculosis , Tuberculose Pulmonar , Tuberculose , Humanos , Testes de Liberação de Interferon-gama/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Escarro , Tuberculose/diagnóstico , Tuberculose Pulmonar/diagnóstico , Sensibilidade e Especificidade , DNA
10.
J Exp Bot ; 72(20): 6963-6976, 2021 10 26.
Artigo em Inglês | MEDLINE | ID: mdl-34283218

RESUMO

Heterosis of grain yield is closely associated with heading date in crops. Gene combinations of the major heading date genes Ghd7, Ghd8, and Hd1 play important roles in enhancing grain yield and adaptation to ecological regions in rice. However, the predominant three-gene combinations for a specific ecological region remain unclear in both three-line and two-line hybrids. In this study, we sequenced these three genes of 50 cytoplasmic male sterile/maintainer lines, 31 photo-thermo-sensitive genic male sterile lines, and 109 restorer lines. Sequence analysis showed that hybrids carrying strong functional alleles of Ghd7 and Hd1 and non-functional Ghd8 are predominant in three-line hybrids and are recommended for rice production in the subtropics around 30°N/S. Hybrids carrying strong functional Ghd7 and Ghd8 and non-functional Hd1 are predominant in two-line hybrids and are recommended for low latitude areas around 23.5°N/S rich in photothermal resources. Hybrids carrying strong functional Ghd7 and Ghd8 and functional Hd1 were not identified in commercial hybrids in the middle and lower reaches of the Yangtze River, but they have high yield potential in tropical regions because they have the strongest photoperiod sensitivity. Based on these findings, two genic sterile lines, Xiangling 628S and C815S, whose hybrids often head very late, were diagnosed with these three genes, and Hd1 was targeted to be knocked out in Xiangling 628S and replaced with hd1 in C815S. The hybrids developed from both modified sterile lines in turn had appropriate heading dates and significantly improved grain yield. This study provides new insights for breeding design to develop hybrids for various regions.


Assuntos
Oryza , Flores/metabolismo , Regulação da Expressão Gênica de Plantas , Vigor Híbrido/genética , Oryza/genética , Oryza/metabolismo , Melhoramento Vegetal , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo
11.
Phys Chem Chem Phys ; 24(1): 357-365, 2021 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-34889935

RESUMO

The electronic structures and optical properties of novel 2D biphenylene and hydrogen-terminated nanoribbons of different widths which are cut from a layer of biphenylene were explored via first-principles calculations. The findings of phonon computations demonstrate that such a biphenylene is dynamically stable and shows metallic properties. The crystal orbital Hamilton population analysis indicates that the tetra-ring local structure results in anisotropic mechanical properties. For 1D nanoribbons, their band gaps shrink, and a direct-indirect transition occurs in the band gap as the width increases, transforming the nanoribbon to endow them with metallic characteristics at a certain width. This is attributed to the weak coupling between the tetra-ring atoms, shrinking the direct band gap at the Y point in the Brillouin zone. Finally, the contribution of interband transitions to the dielectric function in 6-, 9-, and 12-armchair biphenylene nanoribbons (ABNRs) was identified. The lowest peak in the imaginary part of the dielectric function ε2 spectrum was mainly a contribution of a Γ-Γ transition. As the width of ABNR increases, the transitions in the x direction become stronger while the transition strength in the y direction is not significantly altered. This investigation extends the understanding of the electronic and optical properties of 2D biphenylene and 1D nanoribbons, which will benefit the practical applications of these materials in optoelectronics and electronics.

12.
Sensors (Basel) ; 21(11)2021 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-34067467

RESUMO

The remarkable success of convolutional neural networks (CNNs) in computer vision tasks is shown in large-scale datasets and high-performance computing platforms. However, it is infeasible to deploy large CNNs on resource constrained platforms, such as embedded devices, on account of the huge overhead. To recognize the label numbers of industrial black material product and deploy deep CNNs in real-world applications, this research uses an efficient method to simultaneously (a) reduce the network model size and (b) lower the amount of calculation without compromising accuracy. More specifically, the method is implemented by pruning channels and corresponding filters that are identified as having a trivial effect on the output accuracy. In this paper, we prune VGG-16 to obtain a compact network called LeanNet, which gives a 25× reduction in model size and a 4.5× reduction in float point operations (FLOPs), while the accuracy on our dataset is close to the original accuracy by retraining the network. Besides, we also find that LeanNet could achieve better performance on reductions in model size and computation compared to some lightweight networks like MobileNet and SqueezeNet, which are widely used in engineering applications. This research has good application value in the field of industrial production.

13.
J Environ Manage ; 293: 112913, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34091142

RESUMO

Fertilizer overuse by smallholder farmers is widespread in China, leading to significant financial losses and threatening the environment. Understanding what mechanism behind this is critical for agricultural and environmental sustainability. By using a fixed effect panel model of over 20,000 rural households in China from 1995 to 2016, we found that the low ratio of fixed inputs such as machinery and knowledge to total inputs is the key factor leading to over-fertilization in smallholder farms. Low fixed input can result in or interact with nutrient-unbalanced fertilization, low agricultural income ratio and more cash crops that further aggravate fertilizer overuse. Smallholders lack fixed inputs, then compensate by over-applying fertilizer to attempt to achieve their yield goals. Thus, improving fixed input via increasing the average farm size to 3.8 ha or advanced service rental could save not only 45% fertilizers but also increase 16% agricultural net profit, benefiting agricultural and environmental sustainability.


Assuntos
Agricultura , Fertilizantes , China , Produtos Agrícolas , Fazendas , Humanos , Nitrogênio/análise
14.
Theor Appl Genet ; 133(8): 2387-2399, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32472264

RESUMO

KEY MESSAGE: SG3, an R2R3 MYB protein coding gene that tightly linked to a major QTLGS3, negatively regulates grain length while dependent on the status ofGS3in rice. It is often very difficult to isolate a minor QTL that is closely linked to a major QTL in rice. In this study, we focused on the isolation of a minor grain length QTL, small grain 3 (SG3), which is closely linked to the major QTL grain size 3 (GS3). The genetic effect of SG3 on grain length was dependent on GS3 status. Its genetic effect was larger in the presence of nonfunctional sg3 than functional SG3. A large number of near-isogenic F2 plants in which GS3 was fixed with nonfunctional alleles were developed to clone SG3. A gene encoding an R2R3 MYB domain transcriptional regulator was identified as the candidate gene for SG3. SG3 overexpression and knockdown plants showed shortened and elongated grains, respectively, which demonstrated that SG3 acts as a negative regulator of grain length. SG3 was preferentially expressed in panicles after flowering, and SG3 acted as a transcription activator. Comparative sequencing analysis identified a 12-bp insertion in the third exon of NYZ that led to a frameshift and resulted in a premature stop codon. The insertion/deletion was associated with grain length in the presence of functional GS3 in the indica subspecies. SG3 and GS3 were frequently in coupling phase in indica rice, making them good targets for the breeding of cultivars with short or long grains. The isolation of the SG3 MYB gene provides new gene resource and contributes to the regulatory network of grain length in rice.


Assuntos
Mapeamento Cromossômico/métodos , Grão Comestível/genética , Genes de Plantas , Oryza/genética , Melhoramento Vegetal/métodos , Sementes/genética , Fatores de Transcrição/genética , Alelos , Sistemas CRISPR-Cas , Núcleo Celular/metabolismo , Códon sem Sentido , Éxons , Regulação da Expressão Gênica de Plantas/genética , Técnicas de Inativação de Genes , Mutação INDEL , Oryza/crescimento & desenvolvimento , Filogenia , Plantas Geneticamente Modificadas , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Sementes/crescimento & desenvolvimento , Fatores de Transcrição/metabolismo
15.
Nanotechnology ; 31(20): 205002, 2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32000142

RESUMO

We have performed extensive transport experiments on a 4 nm thick aluminum (Al) superconducting film grown on a GaAs substrate by molecular beam epitaxy (MBE). Nonlinear current-voltage (I-V) measurements on such a MBE-grown superconducting nanofilm show that V âˆ¼ I 3, which is evidence for the Berezinskii-Kosterlitz-Thouless (BKT) transition, both in the low-voltage (T BKT ≈ 1.97 K) and high-voltage regions (T BKT ≈ 2.17 K). In order to further study the two regions where the I-V curves are BKT-like, our experimental data are fitted to the temperature-induced vortices/antivortices unbinding model as well as the dynamical scaling theory. It is found that the transition temperature obtained in the high-voltage region is the correct T BKT as confirmed by fitting the data to the aforementioned models. Our experimental results unequivocally show that I-V measurements alone may not allow one to determine T BKT for superconducting transition. Therefore, one should try to fit one's results to the temperature-induced vortices/antivortices unbinding model and the dynamical scaling theory to accurately determine T BKT in a two-dimensional superconductor.

16.
J Assist Reprod Genet ; 37(11): 2713-2722, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32949002

RESUMO

PURPOSE: Tubulin beta eight class VIII (TUBB8) is essential for oogenesis, fertilization, and pre-implantation embryo development in human. Although TUBB8 mutations were recently discovered in meiosis-arrested oocytes of infertile females, there is no effective therapy for this gene mutation caused infertility. Our study aims to further reveal the infertility-causing gene mutations in the patient's family and to explore whether the infertility could be rescued by optimizing the conditions of embryo culture and finally achieve the purpose of making the patient pregnant. METHODS: Whole-exome sequence analysis and Sanger sequencing were performed on patients' family members to screen and identify candidate mutant genes. Construction of plasmids, in vitro transcription, microinjection of disease-causing gene cRNA, and immunofluorescence staining were used to recapitulate the infertility phenotype observed in patients and to understand the pathogenic principles. Simultaneously, overexpression of mutant and wild-type cRNA of the candidate gene in mouse oocytes at either germinal vesicle (GV) or metaphase II (MII) stage was performed in the rescue experiment. RESULTS: We first identified a novel heritable TUBB8 mutation (c.1041C>A: p.N347K) in the coding region which specifically affects the first mitosis and causes the developmental arrest of early embryos in a three-generation family. We further demonstrated that TUBB8 mutation could lead to abnormal spindle assemble. And moreover, additional expression of wild-type TUBB8 cRNA in the mouse oocytes in which the mutant TUBB8 were expressed can successfully rescue the developmental defects of resulting embryo and produce full-term offspring. CONCLUSIONS: Our study not only defines a novel mutation of TUBB8 causing the early cleavage arrest of embryos, but also provides an important basis for treating such female infertility in the future.


Assuntos
Infertilidade Feminina/genética , Oogênese/genética , Tubulina (Proteína)/genética , Animais , Divisão Celular/genética , Embrião de Mamíferos , Feminino , Humanos , Infertilidade Feminina/patologia , Masculino , Camundongos , Mitose/genética , Mutação/genética
17.
J Obstet Gynaecol ; 40(7): 953-960, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31790315

RESUMO

It has been revealed that gestational weight gain (GWG) influences the risk of autism spectrum disorder (ASD) in the offspring, but the findings are inconsistent. The current study aimed to evaluate the relationship between GWG and risk of ASD in offspring. Four electronic databases were searched up to August 28 2018 to identify observational studies reporting the association between GWG and risk of ASD in the offspring. Nine studies which met the inclusion criteria were included in the systematic review. Finally, five studies with a total of 3793 children with ASD were included in the meta-analysis. The-results indicated that excessive GWG might increase the risk of ASD in offspring (p = .0008, OR = 1.23, 95% confidence interval (CI) 1.09-1.38). More high quality cohort studies are needed to confirm this result. This research has the potential to inspire new research on ASD and promote efforts to design appropriate interventions against excessive GWG.Impact statementWhat is already known on this subject? It has been revealed that gestational weight gain (GWG) influences the risk of autism spectrum disorder (ASD) in the offspring, but the findings are inconsistent.What the results of this study add? This is the first systematic review and meta-analysis on the association between GWG and ASDs in offspring. This study suggested that excessive GWG was associated with higher risk of ASD in offspring.What the implications are of these findings for clinical practice and/or further research? More high quality cohort studies are needed to confirm this result. This research has the potential to inspire new research on ASD and promote efforts to design appropriate interventions against excessive GWG.


Assuntos
Transtorno do Espectro Autista/epidemiologia , Ganho de Peso na Gestação/fisiologia , Índice de Massa Corporal , Criança , Feminino , Humanos , Gravidez , Fatores de Risco
18.
Microb Pathog ; 131: 144-149, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30965088

RESUMO

Corynebacterium pseudotuberculosis (CP) infection in livestock has become highly difficult to control. To decrease the incidence of CP infection, the supplementation of feed with non-antibiotic antibacterial substances is a potential approach. The aim of this study was to assess the effects of sodium butyrate (NaB), a potential alternative to antibiotics, on CP infection in RAW264.7 macrophages and C57BL/6 mice. Our data showed that NaB (2 mM) significantly ameliorated CPinfection in RAW264.7 macrophages and decreased the bacterial load in the spleens of infected mice. By real-time PCR, we found that NaB induced significant decreases in zinc-dependent superoxide dismutase (sodC) and tip protein C (spaC) expression in CP from infected-RAW264.7 cells and in phospholipase D (pld) and spaC expression in CP from the spleens of infected mice. NaB treatment significantly up-regulated cathelicidin-related antimicrobial peptide (cramp) expression in spleens of mice infected with CP. Furthermore, NaB alleviated histopathological changes in spleens of CP-infected mice. In conclusion, NaB ameliorated CP infection in RAW264.7 macrophages and C57BL/6 mice, and these effects may be related to the modulation of sodC, spaC, pld, and cramp expression.


Assuntos
Ácido Butírico/farmacologia , Infecções por Corynebacterium/microbiologia , Corynebacterium pseudotuberculosis/efeitos dos fármacos , Corynebacterium pseudotuberculosis/patogenicidade , Macrófagos/efeitos dos fármacos , Células RAW 264.7/efeitos dos fármacos , Animais , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Peptídeos Catiônicos Antimicrobianos/genética , Peptídeos Catiônicos Antimicrobianos/metabolismo , Carga Bacteriana/efeitos dos fármacos , Ácido Butírico/uso terapêutico , Modelos Animais de Doenças , Combinação de Medicamentos , Feminino , Regulação Bacteriana da Expressão Gênica/efeitos dos fármacos , Genes Bacterianos/genética , Camundongos , Camundongos Endogâmicos C57BL , Baço/microbiologia , Baço/patologia , Catelicidinas
19.
Nanotechnology ; 30(37): 375202, 2019 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-31181550

RESUMO

It has been demonstrated that the switching of perpendicular magnetization can be achieved with spin-orbit torque (SOT) at an ultrafast speed and low energy consumption. However, to make the switching deterministic, an undesirable magnetic field or unconventional device geometry is required to break the structure inverse symmetry. Here we propose a novel scheme for SOT-induced field-free deterministic switching of perpendicular magnetization. The proposed scheme can be implemented in a simple magnetic tunnel junction (MTJ)/heavy-metal system, without the need of complicated device structure. The perpendicular-anisotropy MTJ is patterned into elliptical shape and misaligned with the axis of the heavy metal, so that the uniaxial shape anisotropy aids the magnetization switching. Furthermore, unlike the conventional switching scheme where the switched final magnetization state is dependent on the direction of the applied current, in our scheme the bipolar switching is implemented by choosing different current paths, which offers a new freedom for developing novel spintronics memories or logic devices. Through the macrospin simulation, we show that a wide operation window of the applied current pulse can be obtained in the proposed scheme. The precise control of pulse amplitude or pulse duration is not required. The influences of key parameters such as damping constant and field-like torque strength are discussed as well.

20.
Carbon N Y ; 1422019.
Artigo em Inglês | MEDLINE | ID: mdl-31097837

RESUMO

Monolayer epitaxial graphene (EG) has been shown to have clearly superior properties for the development of quantized Hall resistance (QHR) standards. One major difficulty with QHR devices based on EG is that their electrical properties drift slowly over time if the device is stored in air due to adsorption of atmospheric molecular dopants. The crucial parameter for device stability is the charge carrier density, which helps determine the magnetic flux density required for precise QHR measurements. This work presents one solution to this problem of instability in air by functionalizing the surface of EG devices with chromium tricarbonyl -Cr(CO)3. Observations of carrier density stability in air over the course of one year are reported, as well as the ability to tune the carrier density by annealing the devices. For low temperature annealing, the presence of Cr(CO)3 stabilizes the electrical properties and allows for the reversible tuning of the carrier density in millimeter-scale graphene devices close to the Dirac point. Precision measurements in the quantum Hall regime show no detrimental effect on the carrier mobility.

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