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1.
Nat Commun ; 15(1): 6513, 2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39095429

RESUMEN

Constructing a ocean Internet of Things requires an essential ocean environment monitoring system. However, the widely distributed existing ocean monitoring sensors make it impractical to provide power and transmit monitored information through cables. Therefore, ocean environment monitoring systems particularly need a continuous power supply and wireless transmission capability for monitoring information. Consequently, a high-strength, environmentally multi-compatible, floatable metamaterial energy harvesting device has been designed through integrated dynamic matching optimization of materials, structures, and signal transmission. The self-powered monitoring system breaks through the limitations of cables and batteries in the ultra-low-frequency wave environment (1 to 2 Hz), enabling real-time monitoring of various ocean parameters and wirelessly transmitting the data to the cloud for post-processing. Compared with solar and wind energy in the ocean environment, the energy harvesting device based on the defective state characteristics of metamaterials achieves a high-energy density (99 W/m3). For the first time, a stable power supply for the monitoring system has been realized in various weather conditions (24 h).

2.
Mol Metab ; : 102011, 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39173944

RESUMEN

OBJECTIVE: Emerging evidence highlights the pivotal roles of long non-coding RNAs (lncRNAs) in lipid metabolism. Apoprotein C3 (ApoC3) is a well-established therapeutic target for hypertriglyceridemia and exhibits a strong association with cardiovascular disease. However, the exact mechanisms via which the lncRNAs control ApoC3 expression remain unclear. METHODS: We identified a novel long noncoding RNA (lncRNA), GM47544, within the ApoA1/C3/A4/A5 gene cluster. Subsequently, the effect of GM47544 on intracellular triglyceride metabolism was analyzed. The diet-induced mouse models of hyperlipidemia and atherosclerosis were established to explore the effect of GM47544 on dyslipidemia and plaque formation in vivo. The molecular mechanism was explored through RNA sequencing, immunoprecipitation, RNA pull-down assay, and RNA immunoprecipitation. RESULTS: GM47544 was overexpressed under high-fat stimulation. GM47544 effectively improved hepatic steatosis, reduced blood lipid levels, and alleviated atherosclerosis in vitro and in vivo. Mechanistically, GM47544 directly bound to ApoC3 and facilitated the ubiquitination at lysine 79 in ApoC3, thereby facilitating ApoC3 degradation via the ubiquitin-proteasome pathway. Moreover, we identified AP006216.5 as the human GM47544 transcript, which fulfills a comparable function in human hepatocytes. CONCLUSIONS: The identification of GM47544 as a lncRNA modulator of ApoC3 reveals a novel mechanism of post-translational modification, with significant clinical implications for the treatment of hypertriglyceridemia and atherosclerosis.

3.
Mol Metab ; 86: 101978, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38950776

RESUMEN

OBJECTIVE: Aberrant glucolipid metabolism in the heart is a characteristic factor in diabetic cardiomyopathy (DbCM). Super-enhancers-driven noncoding RNAs (seRNAs) are emerging as powerful regulators in the progression of cardiac diseases. However, the functions of seRNAs in DbCM have not been fully elucidated. METHODS: Super enhancers and their associated seRNAs were screened and identified by H3K27ac ChIP-seq data in the Encyclopedia of DNA Elements (ENCODE) dataset. A dual-luciferase reporter assay was performed to analyze the function of super-enhancers on the transcription of peroxisome proliferator-activated receptor α-related seRNA (PPARα-seRNA). A DbCM mouse model was established using db/db leptin receptor-deficient mice. Adeno-associated virus serotype 9-seRNA (AAV9-seRNA) was injected via the tail vein to evaluate the role of seRNA in DbCM. The underlying mechanism was explored through RNA pull-down, RNA and chromatin immunoprecipitation, and chromatin isolation by RNA purification. RESULTS: PPARα-seRNA was regulated by super-enhancers and its levels were increased in response to high glucose and palmitic acid stimulation in cardiomyocytes. Functionally, PPARα-seRNA overexpression aggravated lipid deposition, reduced glucose uptake, and repressed energy production. In contrast, PPARα-seRNA knockdown ameliorated metabolic disorder in vitro. In vivo, overexpression of PPARα-seRNA exacerbated cardiac metabolic disorder and deteriorated cardiac dysfunction, myocardial fibrosis, and hypertrophy in DbCM. Mechanistically, PPARα-seRNA bound to the histone demethylase KDM4B (Lysine-specific demethylase 4B) and decreased H3K9me3 levels in the promoter region of PPARα, ultimately enhancing its transcription. CONCLUSIONS: Our study revealed the pivotal function of a super-enhancer-driven long noncoding RNA (lncRNA), PPARα-seRNA, in the deterioration of cardiac function and the exacerbation of metabolic abnormalities in diabetic cardiomyopathy, which recruited KDM4B to the promoter region of PPARα and repression of its transcription. This suggests a promising therapeutic strategy for the treatment of DbCM.


Asunto(s)
Cardiomiopatías Diabéticas , Metabolismo de los Lípidos , PPAR alfa , ARN Largo no Codificante , Animales , Masculino , Ratones , Cardiomiopatías Diabéticas/metabolismo , Cardiomiopatías Diabéticas/genética , Cardiomiopatías Diabéticas/patología , Elementos de Facilitación Genéticos/genética , Glucosa/metabolismo , Metabolismo de los Lípidos/genética , Ratones Endogámicos C57BL , Miocitos Cardíacos/metabolismo , PPAR alfa/metabolismo , PPAR alfa/genética , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo
4.
iScience ; 27(7): 110200, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-38993677

RESUMEN

Circular RNA (circRNA) has emerged as potential therapeutic targets for cardiovascular diseases. Given the central role of the TGFß signaling pathway in cardiac remodeling and its potential as a therapeutic target, we hypothesized that a circRNA from this pathway could modulate cardiac remodeling and serve as a heart failure treatment. Therefore, we identified a circRNA, named circSMAD3, that was significantly reduced in murine heart failure models. Functionally, circSMAD3 mitigated cardiomyocyte hypertrophy and inhibited cardiac fibroblast activation in vitro. Mechanistically, circSMAD3 interacts with YBX1, stabilizing it and facilitating its binding to SMAD3 in the nucleus, disrupting the TGFß/SMAD3 signaling pathway, and ultimately restoring cardiac remodeling. This study highlights circSMAD3 as a promising therapeutic target for heart failure treatment.

5.
Biomedicines ; 12(6)2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38927431

RESUMEN

The APOA1/C3/A4/A5 cluster is an essential component in regulating lipoprotein metabolism and maintaining plasma lipid homeostasis. A genome-wide association analysis and Mendelian randomization have revealed potential associations between genetic variants within this cluster and lipid metabolism disorders, including hyperlipidemia and cardiovascular events. An enhanced understanding of the complexity of gene regulation has led to growing recognition regarding the role of epigenetic variation in modulating APOA1/C3/A4/A5 gene expression. Intensive research into the epigenetic regulatory patterns of the APOA1/C3/A4/A5 cluster will help increase our understanding of the pathogenesis of lipid metabolism disorders and facilitate the development of new therapeutic approaches. This review discusses the biology of how the APOA1/C3/A4/A5 cluster affects circulating lipoproteins and the current progress in the epigenetic regulation of the APOA1/C3/A4/A5 cluster.

6.
Sci Rep ; 14(1): 13143, 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38849508

RESUMEN

Land use changes significantly impact the structure and functioning of ecosystems. The current research focus lies in how to utilize economic and policy instruments to regulate conflicts among stakeholders effectively. The objective is to facilitate rational planning and sustainable development of land utilization resources. The PLUS model integrates a rule-based mining method for land expansion analysis and a CA model based on multi-type stochastic seeding mechanism, which can be used to mine the driving factors of land expansion and predict the patch-level evolution of land use landscapes. Using the PLUS model, a simulation was conducted to study the future land use distribution in the research area over the next 30 years. Based on land use data from Guizhou Province in 2000, 2010, and 2020, a total of 16 driving factors were selected from three aspects: geographical environment, transportation network, and socio-economic conditions. Four scenarios, namely natural development, urban development, ecological conservation, and farmland rotection, were established. Comparative analysis of the simulated differences among the various scenarios was performed. (1) The overall accuracy of the land use simulation using the PLUS model in the study area was 0.983, with a Kappa coefficient of 0.972 and a FoM coefficient of 0.509. The research accuracy meets the simulation requirements. (2) Through the simulation of four different scenarios, the study investigated the land use changes in Guizhou Province over the next 30 years. Each scenario exhibited distinct impacts on land utilization. Comprehensive comparison of the different simulation results revealed that the farmland protection scenario aligns with the sustainable development goals of the research area. Currently, there is a relative scarcity of research on land use simulation, particularly in model application, for Guizhou Province. This study aims to provide a reference for the rational planning of land resources and high-quality urban construction in Guizhou, promoting the high-quality economic development in tandem with advanced ecological and environmental protection.

7.
Sci Total Environ ; 946: 174090, 2024 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-38914338

RESUMEN

Dissolved organic carbon (DOC) and discharge are often tightly coupled, though these relationships in karst environments remain poorly constrained. In this study, DOC dynamics over 13 hydrological events, alongside monthly monitoring over an entire hydrological year were monitored in a small karst catchment, SW China. The concurrent analyses of power-law model and hysteresis patterns reveal that DOC behavior is generally transport-limited due to flushing effects of increased discharge but highly variable at both intra- and inter-event scales. The initial discharge at event onset and discharge-weighted mean concentration of DOC ([DOC]DW) of individual events can explain 37.7 % and 19.9 % of the variance of DOC behavior among events, respectively. The sustained dry-cold antecedent conditions make DOC hysteresis behavior during the earliest event complex and different from subsequent events. At event scale, the variability in DOC export is primarily controlled by [DOC]DW (explaining 64.3 %) and the yield of total dissolved solutes (YTDS, explaining 30.4 %), reflecting the impacts of variable hydrological connectivity and intense soil-water-rock interactions in this karst catchment. On an annual scale, DOC yield (YDOC, 222.86 kg C km-2) was mostly derived during the wet season (98.19 %) under the hydrological driving force. The difference in annual YDOC between this karst catchment and other regions can be well explained by annual water yield (Ywater, explaining 24.2 %) and [DOC] (explaining 35.4 %), whereas the variance in DOC export efficiency among catchments is almost exclusively controlled by [DOC] alone, independent of drainage area and annual Ywater. This study highlights the necessity of high-frequency sampling for modeling carbon biogeochemical processes and the particularity of the earliest hydrological events occurred after a long cold-dry period in karst catchments. Under the changing climate, whether DOC dynamics in karst catchments will present source-limited patterns during more extreme hydrological events merits further study.

8.
Analyst ; 149(12): 3444-3455, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38738630

RESUMEN

Numerous studies have revealed a close correlation between the levels of apolipoproteins (Apos) (including lipoprotein(a) [Lp(a)]) and an increased risk of cardiovascular disease in recent decades. However, clinically, lipid profiling remains limited to the conventional plasma levels of cholesterol, triglyceride, ApoA1, and ApoB, which brings the necessity to quantify more apolipoproteins in human plasma. In this study, we simultaneously quantified 13 apolipoproteins and Lp(a) in 5 µL of human plasma using the LC-MS/MS platform. A method was developed for the precise detection of Lp(a), ApoA1, A2, A5, B, C1, C2, C3, D, E, H, L1, M, and J. Suitable peptides were selected and optimized to achieve clear separation of each peak. Method validation consisting of linearity, sensitivity, accuracy and precision, recovery, and matrix effects was evaluated. The intra-day CV ranged from 0.58% to 14.2% and the inter-day CV ranged from 0.51% to 13.3%. The recovery rates ranged from 89.8% to 113.7%, while matrix effects ranged from 85.4% to 113.9% for all apolipoproteins and Lp(a). Stability tests demonstrated that these apolipoproteins remained stable for 3 days at 4 °C and 7 days at -20 °C. This validated method was successfully applied to human plasma samples obtained from 45 volunteers. The quantitative results of ApoA1, ApoB, and Lp(a) exhibited a close correlation with the results from the immunity transmission turbidity assay. Collectively, we developed a robust assay that can be used for high-throughput quantification of apolipoproteins and Lp(a) simultaneously for investigating related risk factors in patients with dyslipidemia.


Asunto(s)
Apolipoproteínas , Lipoproteína(a) , Espectrometría de Masas en Tándem , Humanos , Espectrometría de Masas en Tándem/métodos , Apolipoproteínas/sangre , Lipoproteína(a)/sangre , Cromatografía Liquida/métodos , Análisis Químico de la Sangre/métodos , Cromatografía Líquida con Espectrometría de Masas
9.
Echocardiography ; 41(4): e15810, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38555578

RESUMEN

The aortic short axis view demonstrated the widening of the pulmonary artery and the membrane-like echo in the pulmonary artery divided it into true lumen and false lumen. And the flow of the ruptured openings on the band-like echo was clearly revealed by Color Doppler.


Asunto(s)
Disección Aórtica , Defectos del Tabique Interventricular , Estenosis de la Válvula Pulmonar , Humanos , Ecocardiografía , Arteria Pulmonar/diagnóstico por imagen , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/diagnóstico por imagen , Estenosis de la Válvula Pulmonar/complicaciones , Estenosis de la Válvula Pulmonar/diagnóstico por imagen
10.
Sci Total Environ ; 921: 170928, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38367716

RESUMEN

The fate of dissolved organic matter (DOM) is primarily governed by its sources, degradation, and transformation processes within the environment. However, the influence of metal-DOM complexation on DOM degradation remains ambiguous. In this study, controlled laboratory experiments were conducted using Cu(II) and natural water from the Duliujian River and the Beidagang Wetland to examine the effects of metal-DOM binding on the degradation pathway of DOM. Our results showed that Cu(II)-DOM complexation affected the distribution of DOM molecular weight with elevated Mw after complexed with Cu(II). Nevertheless, the concentration of DOM decreased over the incubation period due to degradation. In the absence of Cu(II) binding, both wetland and river DOM followed similar degradation pathways, transforming from high to low molecular weight with changes predominantly in the 1-10 kDa size-fraction during DOM degradation. In contrast, in the presence of Cu(II) and thus Cu(II)-DOM binding, the degradation of DOM was enhanced, resulting in higher kinetic rate constants for both wetland and river DOM. The results of differential spectra further confirmed the degradation of DOM with a decrease in bulk spectroscopic properties and an increase in the degree of DOM-Cu(II) complexation. These findings imply a mutually reinforcing relationship between metal-DOM complexation and the degradation of DOM in aquatic environments, providing new insights into the biogeochemical behavior and environmental fate of DOM.

11.
Sci China Life Sci ; 67(5): 913-939, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38332216

RESUMEN

Fulminant myocarditis is an acute diffuse inflammatory disease of myocardium. It is characterized by acute onset, rapid progress and high risk of death. Its pathogenesis involves excessive immune activation of the innate immune system and formation of inflammatory storm. According to China's practical experience, the adoption of the "life support-based comprehensive treatment regimen" (with mechanical circulation support and immunomodulation therapy as the core) can significantly improve the survival rate and long-term prognosis. Special emphasis is placed on very early identification,very early diagnosis,very early prediction and very early treatment.


Asunto(s)
Miocarditis , Miocarditis/diagnóstico , Miocarditis/terapia , Humanos , China , Adulto , Cardiología/métodos , Cardiología/normas , Pronóstico , Sociedades Médicas
12.
Eur J Neurol ; 31(2): e16121, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37933887

RESUMEN

BACKGROUND AND PURPOSE: Deep brain stimulation (DBS) has emerged as a promising treatment for movement disorders. This prospective study aims to evaluate the effects of bilateral subthalamic nucleus DBS (STN-DBS) on motor and non-motor symptoms in patients with primary Meige syndrome. METHODS: Thirty patients who underwent bilateral STN-DBS between April 2017 and June 2020 were included. Standardized and validated scales were utilized to assess the severity of dystonia, health-related quality of life, sleep, cognitive function and mental status at baseline and at 1 year and 3 years after neurostimulation. RESULTS: The Burke-Fahn-Marsden Dystonia Rating Scale movement scores showed a mean improvement of 63.0% and 66.8% at 1 year and 3 years, respectively, after neurostimulation. Similarly, the Burke-Fahn-Marsden Dystonia Rating Scale disability scores improved by 60.8% and 63.3% at the same time points. Postoperative quality of life demonstrated a significant and sustained improvement throughout the follow-up period. However, cognitive function, mental status, sleep quality and other neuropsychological functions did not change after 3 years of neurostimulation. Eight adverse events occurred in six patients, but no deaths or permanent sequelae were reported. CONCLUSIONS: Bilateral STN-DBS is a safe and effective alternative treatment for primary Meige syndrome, leading to improvements in motor function and quality of life. Nevertheless, it did not yield significant amelioration in cognitive, mental, sleep status and other neuropsychological functions after 3 years of neurostimulation.


Asunto(s)
Estimulación Encefálica Profunda , Distonía , Trastornos Distónicos , Síndrome de Meige , Núcleo Subtalámico , Humanos , Síndrome de Meige/terapia , Síndrome de Meige/etiología , Distonía/terapia , Calidad de Vida , Estimulación Encefálica Profunda/efectos adversos , Estudios Prospectivos , Trastornos Distónicos/terapia , Resultado del Tratamiento , Globo Pálido
13.
Int J Mol Sci ; 24(20)2023 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-37895097

RESUMEN

Liquid-liquid phase separation (LLPS) is a biophysical process that mediates the precise and complex spatiotemporal coordination of cellular processes. Proteins and nucleic acids are compartmentalized into micron-scale membrane-less droplets via LLPS. These droplets, termed biomolecular condensates, are highly dynamic, have concentrated components, and perform specific functions. Biomolecular condensates have been observed to organize diverse key biological processes, including gene transcription, signal transduction, DNA damage repair, chromatin organization, and autophagy. The dysregulation of these biological activities owing to aberrant LLPS is important in cardiovascular diseases. This review provides a detailed overview of the regulation and functions of biomolecular condensates, provides a comprehensive depiction of LLPS in several common cardiovascular diseases, and discusses the revolutionary therapeutic perspective of modulating LLPS in cardiovascular diseases and new treatment strategies relevant to LLPS.


Asunto(s)
Enfermedades Cardiovasculares , Humanos , Proteínas , Fenómenos Fisiológicos Celulares , Autofagia
15.
Int J Mol Med ; 52(3)2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37477120

RESUMEN

Following the publication of the above article, an interested reader drew to the authors' attention that, for the cell migration assay experiments shown in Fig. 5 on p. 731, the 'TNF­α' data panels in Fig. 5A and C appeared to be matching, where experiments performed under different conditions were intended to have been displayed. After having re­examined their original data, the authors have realized that the data files were mislabelled, although they were able to retrieve the correct data for Fig. 5C (where the error occurred). The revised version of Fig. 5, containing the correct data for the TNF­α experiment shown in Fig. 5C, is shown on the next page. Note that the error made during the assembly of this figure did not affect the overall conclusions reported in the paper. All the authors agree with the publication of this corrigendum, and are grateful to the Editor of International Journal of Molecular Medicine for allowing them the opportunity to publish this. They also apologize to the readership for any inconvenience caused. [International Journal of Molecular Medicine 34: 725­732, 2014; DOI: 10.3892/ijmm.2014.1844].

16.
Pharmacol Ther ; 249: 108500, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37482097

RESUMEN

Vasospastic angina (VSA) is characterized by episodes of rest angina that are responsive to short-acting nitrates and are attributable to coronary artery vasospasm. The condition is underdiagnosed as the provocation test is rarely performed. VSA, the most important component of non-obstructive coronary artery disease, can present with angina, be asymptomatic, or can even present with fatal arrhythmias and cardiac arrest. Although most patients with VSA respond well to vasodilating medications, prognosis does not improve as expected in most patients, suggesting the existence elusive prognostic factors and pathogenesis that warrant further exploration. Moreover, patients with either severe or refractory VSA barely respond to conventional treatment and may develop life-threatening arrhythmias or suffer sudden cardiac death during ischemic attacks, which are associated with immune-inflammatory responses and have been shown to achieve remission following glucocorticoid and immunoglobulin treatments. Our recent work revealed that inflammation plays a key role in the initiation and development of coronary spasms, and that inflammatory cytokines have predictive value for diagnosis. In contrast to the existing literature, this review both summarizes the theoretical and clinical aspects of VSA, and also discusses the relationship between inflammation, especially myocarditis and VSA, in order to provide novel insights into the etiology, diagnosis, and treatment of VSA.


Asunto(s)
Enfermedad de la Arteria Coronaria , Vasoespasmo Coronario , Humanos , Vasoespasmo Coronario/diagnóstico , Vasoespasmo Coronario/tratamiento farmacológico , Angina de Pecho/diagnóstico , Angina de Pecho/tratamiento farmacológico , Pronóstico , Arritmias Cardíacas , Inflamación
17.
Sci Total Environ ; 874: 162509, 2023 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-36870263

RESUMEN

The environmental behavior of heavy metals in soil is significantly regulated by their binding with dissolved organic matter (DOM), which is affected by soil moisture contents. However, the mechanism of this interaction in soils with varying moisture is still not well understood. Using a combination of ultrafiltration, Cu(II) titration, and multispectral (ultraviolet-visible absorption, 3D fluorescence, Fourier transform infrared) analysis techniques, we studied the differences in the spectral characteristics and Cu(II) binding properties of soil dissolved organic matter (DOM) and its different molecular weight (MW) fractions with moisture gradients. We found that the abundance and spectral characters of soil DOM changed with increasing soil moisture, i.e., the increase in abundance while the decrease in aromaticity and humification index. The components of DOM, shown by Fluorescence region-integration (FRI) analysis, also changed, with an increase in the proportion of protein-like substances and a decrease of humic-like and fulvic-like substances. The overall Cu(II) binding potential of soil DOM diminished with increasing soil moisture, as indicated by the fluorescence parallel factor (PARAFAC) analysis. This is aligns with the changes in DOM composition, as the humic-like and fulvic-like fractions exhibited higher Cu(II) binding potential compared to the protein-like fractions. The low MW fraction of the MW-fractionated samples showed a stronger binding potential for Cu(II) compared to the high MW fraction. Finally, the active binding site of Cu(II) in DOM, as revealed by UV-difference spectroscopy and 2D-FTIR-COS analysis, decreased with increasing soil moisture, with the order of preferentially functional groups shifting from OH, NH, and CO to CN and CO. This study emphasizes the impact of moisture variations on the characteristics of DOM and its interaction with Cu(II), providing insight into the environmental fate of heavy metal contaminants in soil in areas with alternating land and water conditions.

18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(4): 446-451, 2023 Apr 10.
Artículo en Chino | MEDLINE | ID: mdl-36972940

RESUMEN

OBJECTIVE: To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions. METHODS: All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA). For 10 couples with recurrent spontaneous abortions but normal CMA results for abortive tissues, non-in vitro fertilization-embryo transfer (IVF-ET) pregnancies and no previous history of live births and no structural abnormalities of the uterus, peripheral venous blood samples were collected. Genomic DNA was subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing and bioinformatics analysis. Multifactorial unconditional logistic regression analysis was carried out to analyze the factors that may affect chromosomal abnormality in spontaneous abortions, such as the age of the couple, number of previous spontaneous abortions, IVF-ET pregnancy and history of live birth. The incidence of chromosomal aneuploidies in spontaneous abortions during the first trimester was compared in young or advanced-aged patients by chi-square test for liner trend. RESULTS: Among the 1 065 spontaneous abortion patients, 570 cases (53.5%) of chromosomal abnormalities were detected in spontaneous abortion tissues, which included 489 cases (45.9%) of chromosomal aneuploidies and 36 cases (3.4%) of pathogenic/likely pathogenic copy number variations (CNVs). Trio-WES results have revealed one homozygote variant and one compound heterozygote variants in two pedigrees, both of which were inherited from the parents. One likely pathogenic variant was detected in the patient from two pedigrees. Multifactorial unconditional Logistic regression analysis suggested that age of patient was an independent risk factor of chromosome abnormalities (OR = 1.122, 95%CI: 1.069-1.177, P < 0.001), the number of previous abortions and IVF-ET pregnancy were independent protective factors for chromosomal abnormalities (OR = 0.791, 0.648; 95%CI: 0.682-0.916, 0.500-0.840; P = 0.002, 0.001), whilst the age of husband and history of live birth were not (P > 0.05). The incidence of aneuploidies in the abortive tissues has decreased with the number of previous spontaneous abortions in young patients (χ² = 18.051, P < 0.001), but was not significantly correlated with the number of previous spontaneous abortions in advanced-aged patients with spontaneous abortions (P > 0.05). CONCLUSION: Chromosomal aneuploidy is the main genetic factor for spontaneous abortion, though CNVs and genetic variants may also underlie its genetic etiology. The age of patients, number of previous abortions and IVF-ET pregnancy are closely associated with chromosome abnormalities in abortive tissues.


Asunto(s)
Aborto Habitual , Aborto Espontáneo , Trastornos de los Cromosomas , Embarazo , Humanos , Femenino , Anciano , Aborto Espontáneo/genética , Variaciones en el Número de Copia de ADN , Aberraciones Cromosómicas , Trastornos de los Cromosomas/genética , Aneuploidia , Aborto Habitual/genética
19.
Neurosurgery ; 92(5): 1073-1079, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-36728352

RESUMEN

BACKGROUND: Bilateral pallidal deep brain stimulation (DBS) has been broadly accepted as a feasible surgical procedure for treating various forms of dystonia, but its effects on motor function, neuropsychological status, and mood in patients with Meige syndrome have rarely been examined. OBJECTIVE: To evaluate the effects of bilateral globus pallidus internus DBS (GPi-DBS) on the motor performance, quality of life, neuropsychological status, and mood of patients with primary Meige syndrome. METHODS: Between January 2015 and April 2019, the database of 35 patients with Meige syndrome who underwent bilateral GPi-DBS in our institution was retrospectively reviewed. The severity of dystonia, health-related quality of life, cognitive function, and mood were assessed using standardized and validated rating scales at baseline. Repeat assessment of the same domains was performed at 1 year and 3 years after neurostimulation in a similar manner. RESULTS: One year and 3 years after bilateral GPi-DBS, Burke-Fahn-Marsden Dystonia Rating Scale movement scores were improved by 65% and 72% and Burke-Fahn-Marsden Dystonia Rating Scale disability scores were improved by 49% and 57%, respectively. The significant improvement in health-related quality of life observed at 1 year was sustained at 3 years. Relative to baseline and to the 1-year assessment, cognitive functions and mood remained stable after 3 years of neurostimulation. No deaths or life-threatening events were reported over the study period. CONCLUSION: Bilateral GPi-DBS is a safe and effective approach for medically refractory Meige syndrome that can improve motor function and quality of life without cognitive and mood side effects.


Asunto(s)
Estimulación Encefálica Profunda , Distonía , Trastornos Distónicos , Síndrome de Meige , Humanos , Globo Pálido , Síndrome de Meige/terapia , Síndrome de Meige/etiología , Distonía/etiología , Resultado del Tratamiento , Estudios Retrospectivos , Estimulación Encefálica Profunda/métodos , Calidad de Vida , Trastornos Distónicos/etiología
20.
ACS Appl Mater Interfaces ; 15(10): 12986-12997, 2023 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-36853996

RESUMEN

Dual-metal-site catalysts (DMSCs) are increasingly important catalysts in the field of electrochemical carbon dioxide reduction reaction (CO2RR) in recent years. However, rapid screening of suitable metal combinations of DMSCs remains a huge challenge. Herein, we constructed an active learning (AL) framework to study CO2RR to HCOOH. This AL framework turned out a success in the accurate prediction of 282 DMSCs for CO2RR through interactive learning between users and machine learning (ML) models. Among the 42 DMSCs calculated in three iteration loops of AL, 29 DMSCs were obtained, where the screening success rate was as high as 70%. Furthermore, we found five experimentally unexplored DMSCs that exhibited better CO2RR activity and selectivity than pure Bi. Low prediction errors on other DMSCs show that the AL model possessed outstanding universality. The results prove the excellent potential of the AL method and provide guidance on the design of high-performance electrocatalysts for CO2RR.

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