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1.
Respir Med ; : 107752, 2024 Jul 31.
Article de Anglais | MEDLINE | ID: mdl-39094792

RÉSUMÉ

BACKGROUND: This study aimed to explore the risk factors for chronic cough in children and provide a reference for prevention and healthcare measures. METHODS: PubMed, Web of Science, Cochrane, and EMBASE were searched for observational studies published up to April 2024. Outcome included risk factors associated with chronic cough in children. Two investigators independently searched and screened the literature, evaluated the qualities and extracted baseline datas. Results were analyzed using random-effects models with odds ratios and their 95% confidence intervals to address heterogeneity. Subgroup analyses, sensitivity analyses and assessment of publication bias were performed. Stata17 and GRADEwas used for the meta-analysis. RESULTS: 18 studies including 97,462 children were reviewed. Asthma( OR= 4.06, 95%CI: 2.37-6.96, P<0.01), NO2( OR= 1.19, 95%CI: 1.01-1.39, P= 0.031), Home remodeling history ( OR= 1.82,95% CI: 1.61-2.05, P<0.01), Environment Tobacco Smoke( OR= 1.41, 95% CI: 1.15-1.73, P=0.001), Pet exposure ( OR= 1.56, 95%CI: 1.25-1.95, P<0.01), Mould (OR= 1.64,95%CI: 1.45-1.85, P<0.01), Age<1 year(OR= 3.19, 95% CI: 1.8-5.63, P<0.01) were reported as risk factors for chronic cough in children, these results were discussed qualitatively in the study. CONCLUSION: Asthma, NO2, Home remodeling history, Environment Tobacco Smoke( ETS), Pet exposure, Mould, and Age<1 year are risk factors for chronic coughing in children. Due to the few studies and insufficient evidence, other potential risk factors need to be robustly confirmed by subsequent large-sample and multicenter trials.

2.
Pediatr Cardiol ; 2024 Aug 03.
Article de Anglais | MEDLINE | ID: mdl-39096382

RÉSUMÉ

To compare the efficacy and safety of bedside ultrasound-guided and fluoroscopy-guided transvenous cardiac temporary pacing in the treatment of bradyarrhythmia in children. Children treated by temporary intravenous cardiac pacing from January 2016 to June 2023 in Hunan Provincial Children's Hospital were enrolled, and the characteristics and data of the cases were summarized. Patients were divided into bedside ultrasound-guided group (ultrasound group) and fluoroscopy-guided group (fluoroscopy group) according to the implantation guidance methods. The efficacy, safety, and incidence of complications in children were compared, and follow-up analysis was carried out. A total of 30 children were enrolled, including 18 males and 12 females, with a median age of 5.5 (2.9, 10.0) years and a median weight of 18.7 (12.7, 32.7) kg. The most common primary diseases were fulminant myocarditis (13/30 cases) and congenital high-grade AVB (10/30 cases). Among them, the proportion of congenital high AVB in the fluoroscopy group was significantly higher than that in the ultrasound group, and the difference was statistically significant (p = 0.007). The implantation process was successful in all 30 children. From the time of pacing decision to implantation, the median time of ultrasound group was 56 (30, 60) min and that of fluoroscopy group was 154 (78,180) min, with a statistically significant difference (P < 0.001). A total of 5 cases developed complications. There was no statistically significant difference between the two groups (P > 0.05). Compared with traditional fluoroscopic temporary pacing, bedside ultrasound-guided temporary pacing technology can effectively shorten the operation time and reduce the occurrence of complications and has become a better choice for children's emergency and critical care treatment. The right internal jugular vein is preferred for intravenous implantation.

3.
Clin Genitourin Cancer ; 22(5): 102165, 2024 Jul 16.
Article de Anglais | MEDLINE | ID: mdl-39111254

RÉSUMÉ

OBJECTIVE: To explore the clinicopathological features and prognosis of TFE3-rearranged renal cell carcinomas (TFE3-rRCC). METHODS: In this retrospective observational study, the data of patients with TFE3-rRCC admitted to Xijing Hospital from January 2010 to October 2023 were collected, encompassing the general information, pathological diagnosis, immunohistochemistry, and the results of FISH detection. The treatment information and survival data of the patients were recorded during the follow-up. RESULTS: A total of 55 patients with TFE3-rRCC were enrolled, among whom 25 were males and 30 were females. TFE3 FISH assay suggested the disruption of the TFE3 gene. Fifty-four patients underwent surgical resection of kidney lesions, while 1 patient did not. By the end of follow-up in December 2023, 3 patients were lost to follow-up, 28 patients remained alive, and 24 patients had died. Among the 52 patients followed up, 31 developed metastases, involving lymph nodes, liver, bone, lung, peritoneum, pleura, adrenal gland, and brain. The 1-year and 5-year survival rates of the patients were 84.6% and 50.6%, respectively. In this study, there were 31 patients with TFE3-rRCC recurrence or metastasis. Median PFS was 7 and 13 months in the VEGFR-TKI and VEGFR-TKI+ ICI groups, respectively. The median OS was 12 months in the VEGFR-TKI treatment group. The median OS data of VEGFR-TKI+ ICI group has not been reached. The ORR and DCR was 25%, 66.7% in the VEGFR-TKI group. The ORR and DCR was 33.3%, 77.8% in the VEGFR-TKI+ ICI group. CONCLUSION: TFE3-rRCC is a rare subtype of malignant renal tumor. The diagnosis mainly relies on pathological morphology, immunohistochemistry, and the detection of TFE3 gene disruption by FISH. In terms of treatment, surgery is the primary approach, and lymph nodes, liver, and bone are the main metastatic sites. VEGFR-TKI+ICI treatment might be an option of recurrent or metastatic TFE3-rRCC.

4.
Comput Struct Biotechnol J ; 23: 2934-2937, 2024 Dec.
Article de Anglais | MEDLINE | ID: mdl-39104711

RÉSUMÉ

Cell sheet technology (CST) has primarily been applied in tissue engineering for repair purposes. Our preliminary research indicates that an in vivo prostate cancer model established using CST outperforms traditional cell suspension methods. However, the potential for CST to be used with bladder cancer cells has not yet been explored. In this study, we investigated the ability of two bladder cancer cell lines, T24 and 5637, to form cell sheets. We found that T24 cells successfully formed cell sheets. We then performed staining to evaluate the integrity, specific markers, and proliferation characteristics of the T24 cell sheets. Our findings demonstrate that bladder cancer cell sheets can be established, providing a valuable tool for both in vivo and in vitro bladder cancer studies and for personalized drug selection for patients.

5.
Genome Biol ; 25(1): 215, 2024 Aug 09.
Article de Anglais | MEDLINE | ID: mdl-39123212

RÉSUMÉ

BACKGROUND: Base editing is a powerful tool for artificial evolution to create allelic diversity and improve agronomic traits. However, the great evolutionary potential for every sgRNA target has been overlooked. And there is currently no high-throughput method for generating and characterizing as many changes in a single target as possible based on large mutant pools to permit rapid gene directed evolution in plants. RESULTS: In this study, we establish an efficient germline-specific evolution system to screen beneficial alleles in Arabidopsis which could be applied for crop improvement. This system is based on a strong egg cell-specific cytosine base editor and the large seed production of Arabidopsis, which enables each T1 plant with unedited wild type alleles to produce thousands of independent T2 mutant lines. It has the ability of creating a wide range of mutant lines, including those containing atypical base substitutions, and as well providing a space- and labor-saving way to store and screen the resulting mutant libraries. Using this system, we efficiently generate herbicide-resistant EPSPS, ALS, and HPPD variants that could be used in crop breeding. CONCLUSIONS: Here, we demonstrate the significant potential of base editing-mediated artificial evolution for each sgRNA target and devised an efficient system for conducting deep evolution to harness this potential.


Sujet(s)
Arabidopsis , Édition de gène , Variation génétique , Arabidopsis/génétique , Édition de gène/méthodes , Systèmes CRISPR-Cas , Évolution moléculaire dirigée , Allèles , Mutation , Amélioration des plantes/méthodes , Résistance aux herbicides/génétique
6.
Animals (Basel) ; 14(15)2024 Jul 27.
Article de Anglais | MEDLINE | ID: mdl-39123720

RÉSUMÉ

In the aquaculture system of ornamental fish, the interaction between bacterial microbiota and ciliate protozoa can prevent or promote disease outbreaks, and different physicochemical conditions will affect the relationships between them. We investigated the interaction between bacterial microbiota and the parasite Tetrahymena pyriformis when infecting Poecilia reticulata (guppy) under different physicochemical conditions. The abundance of T. pyriformis in water, the relative abundance of bacterial species, and histopathological observation were studied or monitored using environmental DNA (eDNA) extraction technology, the qPCR method, and 16s rRNA sequencing, respectively. The morphological identification and phylogenetic analysis of T. pyriformis were carried out. The infected guppy tissue was also stained by the hematoxylin and eosin methods. The results showed: (1) the bacterial communities of water samples were mainly composed of species assigned to Proteobacteria and Bacteroidetes, and Tabrizicola and Puniceicoccaceae were positively correlated with fish mortality, T. pyriformis abundance, and temperature. (2) Arcicella and Methyloversatilis universalis with different correlations between ciliates appeared in different treatment groups, the result of which proved that environmental factors affected the interaction between bacteria and T. pyriformis. (3) Lower temperatures and a higher pH were more beneficial for preventing disease outbreaks.

7.
Commun Biol ; 7(1): 960, 2024 Aug 08.
Article de Anglais | MEDLINE | ID: mdl-39117859

RÉSUMÉ

Previous studies in small samples have identified inconsistent cortical abnormalities in major depressive disorder (MDD). Despite genetic influences on MDD and the brain, it is unclear how genetic risk for MDD is translated into spatially patterned cortical vulnerability. Here, we initially examined voxel-wise differences in cortical function and structure using the largest multi-modal MRI data from 1660 MDD patients and 1341 controls. Combined with the Allen Human Brain Atlas, we then adopted transcription-neuroimaging spatial correlation and the newly developed ensemble-based gene category enrichment analysis to identify gene categories with expression related to cortical changes in MDD. Results showed that patients had relatively circumscribed impairments in local functional properties and broadly distributed disruptions in global functional connectivity, consistently characterized by hyper-function in associative areas and hypo-function in primary regions. Moreover, the local functional alterations were correlated with genes enriched for biological functions related to MDD in general (e.g., endoplasmic reticulum stress, mitogen-activated protein kinase, histone acetylation, and DNA methylation); and the global functional connectivity changes were associated with not only MDD-general, but also brain-relevant genes (e.g., neuron, synapse, axon, glial cell, and neurotransmitters). Our findings may provide important insights into the transcriptomic signatures of regional cortical vulnerability to MDD.


Sujet(s)
Trouble dépressif majeur , Transcriptome , Humains , Trouble dépressif majeur/génétique , Trouble dépressif majeur/physiopathologie , Femelle , Mâle , Adulte , Cortex cérébral/physiopathologie , Cortex cérébral/imagerie diagnostique , Cortex cérébral/métabolisme , Adulte d'âge moyen , Imagerie par résonance magnétique , Analyse de profil d'expression de gènes
8.
Sci Adv ; 10(32): eadl4893, 2024 Aug 09.
Article de Anglais | MEDLINE | ID: mdl-39121214

RÉSUMÉ

Discontinuous transcription is evolutionarily conserved and a fundamental feature of gene regulation; yet, the exact mechanisms underlying transcriptional bursting are unresolved. Analyses of bursting transcriptome-wide have focused on the role of cis-regulatory elements, but other factors that regulate this process remain elusive. We applied mathematical modeling to single-cell RNA sequencing data to infer bursting dynamics transcriptome-wide under multiple conditions to identify possible molecular mechanisms. We found that Mediator complex subunit 26 (MED26) primarily regulates frequency, MYC regulates burst size, while cohesin and Bromodomain-containing protein 4 (BRD4) can modulate both. Despite comparable effects on RNA levels among these perturbations, acute depletion of MED26 had the most profound impact on the entire gene regulatory network, acting downstream of chromatin spatial architecture and without affecting TATA box-binding protein (TBP) recruitment. These results indicate that later steps in the initiation of transcriptional bursts are primary nodes for integrating gene networks in single cells.


Sujet(s)
Protéines du cycle cellulaire , Chromatine , Réseaux de régulation génique , Facteurs de transcription , Transcription génétique , Chromatine/métabolisme , Chromatine/génétique , Facteurs de transcription/métabolisme , Facteurs de transcription/génétique , Protéines du cycle cellulaire/métabolisme , Protéines du cycle cellulaire/génétique , Humains , Régulation de l'expression des gènes , Complexe médiateur/métabolisme , Complexe médiateur/génétique , Analyse sur cellule unique , Transcriptome , , Protéines contenant un bromodomaine
9.
Medicine (Baltimore) ; 103(32): e39257, 2024 Aug 09.
Article de Anglais | MEDLINE | ID: mdl-39121262

RÉSUMÉ

BACKGROUND: During the new coronavirus disease 2019 (COVID-19) pandemic, there are numerous symptoms in the skeletal muscular system, such as decreased skeletal muscle mass, strength, and muscle function, which are the main manifestations of sarcopenia. To investigate the impact of the COVID-19 pandemic on sarcopenia from the perspectives of COVID-19 pandemic lockdown and COVID-19 infection, we conducted this study. METHODS: We searched for literature related to COVID-19 and sarcopenia published in PubMed, Embase, Cochrane Library, and Web of Science. Two researchers independently searched and screened the articles, extracted data, and assessed the quality of the final included literature. RevMan 5.4 was used for meta-analysis. RESULTS: A total of 8 articles with a total of 1145 patients were included. There was a significant difference in SARC-F scores (MD = 0.67, 95%CI = [0.41, 0.93], Z = 5.00, P < .00001), handgrip (MD = -1.57, 95%CI = [-2.41, -0.73], Z = 3.66, P = .0002), body weight (MD = -1.87, 95%CI = [-3.69, -0.05], Z = 2.01, P = .04), and skeletal muscle mass index (MD = -0.28, 95%CI = [-0.54, -0.02], Z = 2.13, P = .03) between the time before the COVID-19 pandemic and during the COVID-19 pandemic. However, the results showed that there was no significant difference in muscle mass between the 2 groups (MD = -1.72, 95%CI = [-4.39, 0.94], Z = 1.27, P = .21). CONCLUSION: The COVID-19 pandemic has had an impact on sarcopenia. Both infection with COVID-19 and lockdown during the COVID-19 pandemic increase the risk of sarcopenia. Research should pay more attention to this disease during the COVID-19 pandemic and adopt effective interventions to minimize adverse outcomes.


Sujet(s)
COVID-19 , Sarcopénie , Sarcopénie/épidémiologie , Humains , COVID-19/épidémiologie , SARS-CoV-2 , Quarantaine , Pandémies , Force de la main , Facteurs de risque
10.
Aging Dis ; 2024 Jul 23.
Article de Anglais | MEDLINE | ID: mdl-39122450

RÉSUMÉ

The process of aging, which involves progressive changes in the body over time, is closely associated with the development of age-related diseases. Cellular senescence is a pivotal hallmark and mechanism of the aging process. The accumulation of senescent cells can significantly contribute to the onset of age-related diseases, thereby compromising overall health. Conversely, the elimination of senescent cells enhances the body's regenerative and reparative capacity, thereby retarding the aging process. Here, we present a brief overview of 12 Hallmarks of aging and subsequently emphasize the potential of immune checkpoint blockade, innate immune cell therapy (including T cells, iNKT cells, macrophages, and NK cells), as well as CAR-T cell therapy for inducing and augmenting immune responses aimed at eliminating senescent cells. In addition to CAR-T cells, we also explore the possibility of engineered immune cells such as CAR-NK and CAR-M cells to eliminate senescent cells. In summary, immunotherapy, as an emerging strategy for the treatment of aging, offers new prospects for age-related research.

11.
Genet Med ; : 101225, 2024 Jul 30.
Article de Anglais | MEDLINE | ID: mdl-39096151

RÉSUMÉ

PURPOSE: Clinical next-generation sequencing is an effective approach for identifying pathogenic sequence variants that are medically actionable for participants and families but are not associated with the participant's primary diagnosis. These variants are called secondary findings (SFs). According to the literature, there is no report of the types and frequencies of SFs in a large pediatric cohort which includes substantial African-American participants. We sought to investigate the types (including American College of Medical Genetics and Genomics [ACMG] and non-ACMG recommended gene lists), frequencies, and rates of SFs, as well as the effects of SF disclosure on the participants and families of a large pediatric cohort at the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP). METHODS: We systematically identified pathogenic (P) and likely pathogenic (LP) variants in established disease-causing genes, adhering to ACMG v3.2 secondary finding guidelines and beyond. For non-ACMG secondary findings, akin to incidental findings in clinical settings, we utilized a set of criteria focusing on pediatric onset, high penetrance, moderate to severe phenotypes, and the clinical actionability of the variants. This criteria-based approach was applied rather than using a fixed gene list to ensure that the variants identified are likely to impact participant health significantly. To identify and categorize these variants, we employed a clinical-grade variant classification standard per ACMG/AMP recommendations; additionally, we conducted a detailed literature search to ensure a comprehensive exploration of potential secondary findings relevant to pediatric participants. RESULTS: We report a distinctive distribution of 1,464 P/LP SF variants in 16,713 participants. There were 427 unique variants in ACMG genes and 265 in non-ACMG genes. The most frequently mutated genes among the ACMG and non-ACMG gene lists were TTR (41.6%) and CHEK2 (7.16%), respectively. Overall, variants of possible medical importance were found in 8.76% of participants in both ACMG (5.81%) and non-ACMG (2.95%) genes.

12.
Heliyon ; 10(15): e35197, 2024 Aug 15.
Article de Anglais | MEDLINE | ID: mdl-39157367

RÉSUMÉ

Background: Previous studies have shown that pyroptosis in hepatocyte is essential for the development of MAFLD. Growing evidence has shown that exosomal miRNAs-mediated communication between inflammatory cells and hepatocyte is an important link in MAFLD. In the present study, we aim to elucidate whether macrophage-derived exosomal miRNAs contribute to the hepatocyte pyroptosis in the pathophysiological process of MAFLD. Methods: The effects of hepatocyte pyroptosis were investigated in an HFD-induced MAFLD mouse model and in the liver tissues from patients with MAFLD using immunohistochemistry, real-time PCR, Western blotting, and luciferase reporter assay, among other techniques. MiR-155 inhibitor tail injections and AAV-FoxO3a-GFP were also administered to respectively inhibit or overexpress its expression in an HFD-induced MAFLD mouse model. Results: Hepatocyte pyroptosis was heightened in the liver tissue of patients with MAFLD or HFD-induced MAFLD mouse. Importantly, treatment with a caspase-1 inhibitor or overexpression of FoxO3a reversed this trend. Our study also demonstrated that miR-155 expression and the number of infiltrated macrophages were increased, and knockdown of miR-155 attenuated hepotocyte pyroptosis and liver fibrosis in HFD-induced mouse. In addition, we demonstrated that macrophage-derived exosomal miR-155 was transferred to hepatocytes, leading to hepatocyte pyroptosis in MAFLD mouse. Furthermore, blockade of exosome secretion improved hepotocyte pyroptosis and liver fibrosis in HFD-induced mouse. On the contrary, macrophage-derived exosomal miR-155 worsened hepotocyte pyroptosis. Moreover, we found that miR-155 promoted hepatocyte pyroptosis in MAFLD by down-regulating FoxO3a. Conclusions: Taken together, our results demonstrated that macrophage-derived exosomal miR-155 promotes hepatocyte pyroptosis and liver fibrosis in MAFLD.

13.
Anal Chim Acta ; 1321: 343018, 2024 Sep 08.
Article de Anglais | MEDLINE | ID: mdl-39155102

RÉSUMÉ

BACKGROUND: Food safety has become an essential aspect of public concern and there are lots of detection means. Liquid chromatography plays a dominating role in food safety inspection because of its high separation efficiency and reproducibility. However, with the increasing complexity of real samples and monitoring requirements, conventional single-mode chromatography would require frequent column replacement and cannot separate different kinds of analytes on a single column simultaneously, which is costly and time-consuming. There is a great need for fabricating mixed-mode stationary phases and validating the feasibility of employing mixed-mode stationary phases for food safety inspection. RESULTS: This work fabricated multifunctional stationary phases for liquid chromatography to determine diverse food additives under the mixed mode of RPLC/HILIC/IEC. Two dicationic ionic liquid silanes were synthesized and bonded onto the silica gel surface. The functionalized silica was characterized by Fourier transform infrared spectroscopy, X-ray photoelectron spectroscopy, and elemental analysis. Both columns provide satisfactory separation performance towards 6 hydrophilic nucleosides, 4 hydrophobic polycyclic aromatic hydrocarbons, and 5 anions. Great repeatability of retention (RSD <0.1 %) and column efficiency (100330 plate/m) were obtained. Thermomechanical analysis and linear solvation energy relationship investigated the retention mechanism. Finally, the better in two prepared columns was employed to separate and determine the contents of NO2- and NO3- in vegetables(highest 4906 mg kg-1 NO3- in spinach), preservatives in bottled beverages (180.8 mg kg-1 sodium benzoate in soft drink), and melamine in milk with satisfactory performance and recovery rates ranging from 96.4 % to 105.6 %. SIGNIFICANCE: This work developed a novel scheme for preparing mixed-mode stationary phases by dicationic ionic liquid which provides great separation selectivity. Most importantly, this work proved the superiority of employing mixed-mode stationary phases for food safety inspection, which might avoid high-cost and frequent changes of columns and chromatography systems in the near future.


Sujet(s)
Additifs alimentaires , Liquides ioniques , Silice , Liquides ioniques/composition chimique , Silice/composition chimique , Additifs alimentaires/analyse , Additifs alimentaires/isolement et purification , Chromatographie en phase liquide/méthodes , Nucléosides/isolement et purification , Nucléosides/analyse , Hydrocarbures aromatiques polycycliques/analyse , Hydrocarbures aromatiques polycycliques/isolement et purification , Anions/analyse , Anions/isolement et purification , Anions/composition chimique , Silanes/composition chimique
14.
Medicine (Baltimore) ; 103(33): e39282, 2024 Aug 16.
Article de Anglais | MEDLINE | ID: mdl-39151522

RÉSUMÉ

RATIONALE: Mucinous liposarcoma myxoid liposarcoma is a malignant mucoid soft tissue tumor derived from undifferentiated stromal cells in perivascular, subbody cavity and intermuscular space, and composed of cells at different stages of differentiation from preadipocytes to mature cells. In rare cases, it may change from lipoma malignancy. The main manifestations is painless mass, relatively slow growth, the course can last decades, the prevalence of liposarcoma in the population is 14% to 18%, mainly in adults, male prevalence is higher than women, but not significant. The main good hair part is the thigh, have mucinous sex, high differentiation type, dedifferentiation type, polymorphic type. Clinical diagnosis is difficult, and there are no obvious symptoms in the early stage, so the diagnosis should be combined with B ultrasound, MRI, CT, and other auxiliary examinations. The gold standard is pathological examination. In December 2023, our department admitted a patient with a mucinous abdominal mass. The report is as follows. PATIENT CONCERNS: Does liposarcoma metastasize? Is any chemotherapy required after surgery? Will it ever relapse in the future? What is the survival period after surgery? DIAGNOSIS: Mucinous liposarcoma. INTERVENTIONS: Surgical resection of the sarcoma. RESULTS: The nodule sample was 33 * 28 * 13 cm, with complete capsule, gray and yellow sections, fine texture, soft, gray, red, grayish, and yellow mucoid nodules in some areas, and the maximum diameter of the nodules was 21cm. Immunohistochemistry was: CD34 (+), CDK 4 (+), CK (-), Desmin (weak +), Ki67 (index 5%), MDM 2 (-), p16 (weak +), S-100P (+), Vimentin (+), BCL-2 (+). He was also sent to the Department of Pathology of Peking Union Medical College Hospital for consultation with Professor Lu Zhaohui, whose consultation opinion was in line with myxoliposarcoma. CONCLUSION: Retroperitoneal liposarcoma is a common retroperitoneal tumor, but it is relatively rare in clinical practice; the overall morbidity is low, mainly manifested as abdominal pain and abdominal distension, abdominal distension, and a long course of disease; it is not sensitive to radiotherapy and chemotherapy, and should be closely follow up by CT examination to understand the recurrence and metastasis.


Sujet(s)
Liposarcome myxoïde , Humains , Mâle , Liposarcome myxoïde/anatomopathologie , Liposarcome myxoïde/diagnostic , Liposarcome myxoïde/chirurgie , Liposarcome myxoïde/imagerie diagnostique , Adulte d'âge moyen , Cavité abdominale/anatomopathologie , Cavité abdominale/imagerie diagnostique , Liposarcome/anatomopathologie , Liposarcome/diagnostic , Liposarcome/chirurgie
15.
Plant J ; 2024 Aug 12.
Article de Anglais | MEDLINE | ID: mdl-39133828

RÉSUMÉ

Deep learning offers new approaches to investigate the mechanisms underlying complex biological phenomena, such as subgenome dominance. Subgenome dominance refers to the dominant expression and/or biased fractionation of genes in one subgenome of allopolyploids, which has shaped the evolution of a large group of plants. However, the underlying cause of subgenome dominance remains elusive. Here, we adopt deep learning to construct two convolutional neural network (CNN) models, binary expression model (BEM) and homoeolog contrast model (HCM), to investigate the mechanism underlying subgenome dominance using DNA sequence and methylation sites. We apply these CNN models to analyze three representative polyploidization systems, Brassica, Gossypium, and Cucurbitaceae, each with available ancient and neo/synthetic polyploidized genomes. The BEM shows that DNA sequence of the promoter region can accurately predict whether a gene is expressed or not. More importantly, the HCM shows that the DNA sequence of the promoter region predicts dominant expression status between homoeologous gene pairs retained from ancient polyploidizations, thus predicting subgenome dominance associated with these events. However, HCM fails to predict gene expression dominance between new homoeologous gene pairs arising from the neo/synthetic polyploidizations. These results are consistent across the three plant polyploidization systems, indicating broad applicability of our models. Furthermore, the two models based on methylation sites produce similar results. These results show that subgenome dominance is associated with long-term sequence differentiation between the promoters of homoeologs, suggesting that subgenome expression dominance precedes and is the driving force or even the determining factor for sequence divergence between subgenomes following polyploidization.

16.
J Adv Res ; 2024 Aug 11.
Article de Anglais | MEDLINE | ID: mdl-39137864

RÉSUMÉ

INTRODUCTION: Breast cancer, a heterogeneous disease, is influenced by multiple genetic and epigenetic factors. The majority of prognostic models for breast cancer focus merely on the main effects of predictors, disregarding the crucial impacts of gene-gene interactions on prognosis. OBJECTIVES: Using DNA methylation data derived from nine independent breast cancer cohorts, we developed an independently validated prognostic prediction model of breast cancer incorporating epigenetic biomarkers with main effects and gene-gene interactions (ARTEMIS) with an innovative 3-D modeling strategy. ARTEMIS was evaluated for discrimination ability using area under the receiver operating characteristics curve (AUC), and calibration using expected and observed (E/O) ratio. Additionally, we conducted decision curve analysis to evaluate its clinical efficacy by net benefit (NB) and net reduction (NR). Furthermore, we conducted a systematic review to compare its performance with existing models. RESULTS: ARTEMIS exhibited excellent risk stratification ability in identifying patients at high risk of mortality. Compared to those below the 25th percentile of ARTEMIS scores, patients with above the 90th percentile had significantly lower overall survival time (HR = 15.43, 95% CI: 9.57-24.88, P = 3.06 × 10-29). ARTEMIS demonstrated satisfactory discrimination ability across four independent populations, with pooled AUC3-year = 0.844 (95% CI: 0.805-0.883), AUC5-year = 0.816 (95% CI: 0.775-0.857), and C-index = 0.803 (95% CI: 0.776-0.830). Meanwhile, ARTEMIS had well calibration performance with pooled E/O ratio 1.060 (95% CI: 1.038-1.083) and 1.090 (95% CI: 1.057-1.122) for 3- and 5-year survival prediction, respectively. Additionally, ARTEMIS is a clinical instrument with acceptable cost-effectiveness for detecting breast cancer patients at high risk of mortality (Pt = 0.4: NB3-year = 19‰, NB5-year = 62‰; NR3-year = 69.21%, NR5-year = 56.01%). ARTEMIS has superior performance compared to existing models in terms of accuracy, extrapolation, and sample size, as indicated by the systematic review. ARTEMIS is implemented as an interactive online tool available at http://bigdata.njmu.edu.cn/ARTEMIS/. CONCLUSION: ARTEMIS is an efficient and practical tool for breast cancer prognostic prediction.

17.
ACS Sens ; 2024 Aug 14.
Article de Anglais | MEDLINE | ID: mdl-39140177

RÉSUMÉ

Both microplastics and phytoplankton are found together in the ocean as suspended microparticles. There is a need for deployable technologies that can identify, size, and count these particles at high throughput to monitor plankton community structure and microplastic pollution levels. In situ analysis is particularly desirable as it avoids the problems associated with sample storage, processing, and degradation. Current technologies for phytoplankton and microplastic analysis are limited in their capability by specificity, throughput, or lack of deployability. Little attention has been paid to the smallest size fraction of microplastics and phytoplankton below 10 µm in diameter, which are in high abundance. Impedance cytometry is a technique that uses microfluidic chips with integrated microelectrodes to measure the electrical impedance of individual particles. Here, we present an impedance cytometer that can discriminate and count microplastics sampled directly from a mixture of phytoplankton in a seawater-like medium in the 1.5-10 µm size range. A simple machine learning algorithm was used to classify microplastic particles based on dual-frequency impedance measurements of particle size (at 1 MHz) and cell internal electrical composition (at 500 MHz). The technique shows promise for marine deployment, as the chip is sensitive, rugged, and mass producible.

18.
ACS Appl Mater Interfaces ; 16(32): 42762-42771, 2024 Aug 14.
Article de Anglais | MEDLINE | ID: mdl-39096245

RÉSUMÉ

Elastic aerogels have become a research hot spot in both academia and industry recently. The reported elastic aerogels are all made of hard materials by controlling their shapes. Herein we report an elastic aerogel made of a polymer elastomer with entropy elasticity. In the aerogel, cross-linked carboxyl nitrile rubber nanoparticles with hydrophilicity are dispersed in hydrophobic derivative of styrene-maleic anhydride alternating copolymer, forming a very special micro-nano surface structure with hydrophilic protrusions and hydrophobic depressions on the aerogel wall; therefore, the aerogel is not only superelastic but also superamphiphilic. A leak-free phase-change composite was prepared using the aerogel and paraffin, which can maintain at phase change temperature of paraffin for a longer time than the traditional one. The aerogel is also extremely suitable for desalination evaporators in solar-driven interfacial evaporation technology due to its superamphiphilicity, superelasticity, and ability to absorb sunlight. Exceptional evaporation rate of 2.78 kg·m-2·h-1 and evaporation efficiency of 170% could be reached even without using expensive light-absorbing materials. The evaporation rate exceeds that of most evaporators with expensive light-absorbing materials, and the evaporation efficiency exceeds the theoretical limit of conventional 2D solar evaporators. Both the phase-change composite and the evaporator can be easily recovered because the novel superelastic aerogel reported in this work is also recyclable.

19.
Thromb Res ; 241: 109112, 2024 Sep.
Article de Anglais | MEDLINE | ID: mdl-39126978

RÉSUMÉ

BACKGROUND: Computed tomography pulmonary angiography (CTPA) simplifies the diagnosis of pulmonary embolism (PE) but is not suitable for all patients. Transthoracic lung ultrasound (LUS) is a potential alternative; this meta-analysis evaluates its accuracy for diagnosing PE. METHODS: We systematically searched PubMed, Embase and Cochrane Library from the inception of each database up to April 2024 according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses of Diagnostic Test Accuracy Studies guidelines. Study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 tool, and a bivariate random effects model was used to pool sensitivity and specificity. RESULTS: A total of 18 studies with 2158 patients were analyzed. Lung ultrasound showed a sensitivity of 0.80 (95 %, confidence interval (CI): 0.71-0.86; I2 = 85.2 %) and specificity of 0.87 (95 %, CI: 0.81-0.92; I2 = 87.3 %). The diagnostic score was 3.27 (95 %, CI: 2.75-3.78; I2 = 61.9 %), and the diagnostic odds ratio was 26 (95 %, CI: 16-44; I2 = 100.0 %). The pooled positive likelihood ratio was 6.2 (95 %, CI: 4.2-9.1; I2 = 79.2 %), and the negative likelihood ratio was 0.24 (95 %, CI: 0.16-0.34; I2 = 83.7 %). The summary area under the curve was 0.91 (95 %, CI: 0.88-0.93). Significant heterogeneity was observed, which may impact the generalisability of the results, and no publication bias was detected. CONCLUSION: Transthoracic LUS shows potential as an alternative to CTPA for PE diagnosis, but further research is needed to improve its accuracy and establish standardised diagnostic criteria. The observed heterogeneity highlights the need for a cautious interpretation of the results.


Sujet(s)
Poumon , Embolie pulmonaire , Échographie , Humains , Embolie pulmonaire/imagerie diagnostique , Embolie pulmonaire/diagnostic , Échographie/méthodes , Poumon/imagerie diagnostique , Sensibilité et spécificité
20.
Alzheimers Dement ; 2024 Aug 22.
Article de Anglais | MEDLINE | ID: mdl-39171679

RÉSUMÉ

INTRODUCTION: We examined the associations of polygenic risk score (PRS) with Alzheimer's disease (AD) and plasma biomarkers in the Chinese population. METHODS: This population-based study used baseline data from MIND-China (2018; n = 4873) and follow-up data from dementia-free individuals (2014-2018; n = 2117). We measured AD-related plasma biomarkers in a subsample (n = 1256). Data were analyzed using logistic and Cox regression models. RESULTS: We developed PRS with (PRSAPOE) and without (PRSnon- APOE) apolipoprotein E (APOE) gene. In the longitudinal analysis, PRSAPOE was associated with a multivariable-adjusted hazards ratio of 1.91 (95% CI = 1.13-3.23) for AD. PRSAPOE in combination with demographics yielded discriminative (area under the curve [AUC]) and predictive(C-statistic) accuracy of 0.80 (95% confidence interval [CI] = 0.77-0.84) and 0.80 (0.77-0.82), respectively. PRSnon- APOE showed an association with AD risk similar to PRSAPOE. PRSAPOE, but not PRSnon- APOE, was associated with reduced plasma Aß42/Aß40 ratio and increased Neurofilament light chain (NfL) (p < 0.05). DISCUSSION: The PRS with and without APOE gene, in combination with demographics, shows good discriminative and predictive ability for AD. The AD-related pathologies underlie AD risk associated with PRSAPOE. HIGHLIGHTS: The PRSAPOE and PRSnon- APOE were associated with AD risk in the Chinese population. The PRSAPOE and PRSnon- APOE, in combination with demographics, showed good discriminative and predictive ability for AD. The AD-related pathologies underlie the AD risk associated with PRSAPOE but not PRSnon- APOE.

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