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1.
Biomed Opt Express ; 15(7): 4101-4110, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-39022539

ABSTRACT

HiLo microscopy is an optical sectioning structured illumination microscopy technique based on computationally combining two images: one with uniform illumination and the other with structured illumination. The most widely used structured illumination in HiLo microscopy is random speckle patterns, due to their simplicity and resilience to tissue scattering. Here, we present a novel HiLo microscopy strategy based on random caustic patterns. Building on an off-the-shelf diffuser and a low-coherence LED source, we demonstrate that caustic HiLo can achieve 4.5 µm optical sectioning capability with a 20× 0.75 NA objective. In addition, with the distinct intensity statistical properties of caustic patterns, we show that our caustic HiLo outperforms speckle HiLo, achieving enhanced optical sectioning capability and preservation of fine features by imaging scattering fixed brain sections of 100 µm, 300 µm, and 500 µm thicknesses. We anticipate that this new structured illumination technique may find various biomedical imaging applications.

2.
Food Chem ; 459: 140356, 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38981384

ABSTRACT

Puffiness, a physiological disorder commonly observed during the ripening and post-harvest processes of fruits in Citrus reticulata, significantly affects the quality and shelf-life of citrus fruits. The complex array of factors contributing to puffiness has obscured the current understanding of its mechanistic basis. This study examined the puffing index (PI) of 12 citrus varieties at full ripeness, focusing on the albedo layer as a crucial tissue, and investigated the correlation between cellular structural characteristics, key primary metabolites and PI. The findings revealed that the cell gap difference and the number of lipid droplets were closely linked to PI. Chlorogenic acid, Ferulic acid, D-Galacturonic acid, D-Glucuronic acid, (9Z,11E)-Octadecadienoic acid, and 9(10)-EpOME were identified as pivotal primary metabolites for rind puffing. Determination of lignin, protopectin, cellulose and lipoxygenase content further validated the relationship between cell wall, lipid metabolism and rind puffing. This study furnishes novel insights into the mechanisms underlying puffing disorder.

3.
ACS Appl Mater Interfaces ; 16(13): 16253-16260, 2024 Apr 03.
Article in English | MEDLINE | ID: mdl-38514257

ABSTRACT

The CuGaTe2 thermoelectric material has garnered widespread attention as an inexpensive and nontoxic material for mid-temperature thermoelectric applications. However, its development has been hindered by its low intrinsic carrier concentration and high thermal conductivity. This study investigates the band structure and thermoelectric properties of (CuGaTe2)1-x (ZnSe)x (x = 0, 0.25%, 0.5%, 1%, 1.5%, and 2%). The research revealed that the incorporation of Zn and Se atoms enhanced the level of band degeneracy and electron density of states near Fermi level, significantly raising carrier concentration through the formation of ZnGa- point defects. Simultaneously, when the doping content reached 1.5%, the ZnTe second phase emerged, collaborating with point defects and high-density dislocations, effectively scattering phonons and substantially reducing lattice thermal conductivity. Therefore, introducing ZnSe can simultaneously optimize the material's electrical and thermal transport properties. The (CuGaTe2)0.985(ZnSe)0.015 sample reaches peak ZT of 1.32 at 823 K, representing a 159% increase compared to pure CuGaTe2.

4.
Exp Neurol ; 376: 114726, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38403042

ABSTRACT

BACKGROUND: The complex pathophysiological changes following cerebral ischemia-reperfusion injury (CIRI) include the accumulation of defective proteins and damaged organelles, which cause massive neuron demise. To preserve cellular homeostasis, the autophagy-lysosomal pathway (ALP) is crucial for neurons to dispose of these substances. Many studies have shown that bone mesenchymal stem cell exosomes (BMSC-Exos) can reduce CIRI. However, the specific mechanisms have not been well elucidated, a fact that limits its widespread clinical use. This study aimed to clarify whether BMSC-Exos could attenuate ALP dysfunction by restoring lysosomal function after CIRI via inhibiting mTOR and then activating TFEB nucleus translocation. METHODS: In this study, Flow cytometry, Nanoparticle tracking analysis (NTA), Transmission electron microscope (TEM), and Western blot were used to identify the BMSCs and BMSC-Exos used in this experiment as conforming to the requirements. In vivo experiments, SD rats were modeled with temporary middle cerebral artery occlusion (tMCAO), and BMSC-Exos was injected into the tail vein 2 h after modeling. Triphenyl tetrazolium chloride (TTC) staining, modified neurological severity scores (mNSS), corner turn test, and rotating rod test were used to detect neurological deficits in rats after BMSC-Exos intervention. Western blot and Immunofluorescence were used to detect ALP, transcription factor EB(TFEB) nucleus translocation, and mammalian target of rapamycin (mTOR) change at different time points after modeling and after BMSC-Exos intervention. In vitro experiments, pheochromocytoma cells (PC12) cells were subjected to oxygen-glucose deprivation and reperfusion (OGD/R) modeling to mimic CIRI, and were respectively intervened with BMSC-Exos, BMSC-Exos + MHY 1485 (the mTOR agonist), Rapamycin (the mTOR inhibitor). CCK8, Western blot, and Immunofluorescence were used to detect PC12 cell survival, TFEB nucleus translocation, and cathepsin B(CTSB) Immunofluorescence intensity. RESULTS: We found that ALP dysfunction occurred 72 h after tMCAO, and BMSC-Exos can attenuate ALP dysfunction by restoring lysosomal function. Next, we examined TFEB nucleus translocation and the expression of mTOR, a key regulator of translocation. We found that BMSC-Exos could inhibit mTOR and activate TFEB nucleus translocation. Additional in vitro tests revealed that BMSC-Exos could increase PC12 cell survival after OGD/R, activating TFEB nucleus translocation and enhancing the fluorescence intensity of CTSB, which in turn could be reversed by the mTOR agonist, MHY1485. This effect was similar to another mTOR inhibitor, Rapamycin. CONCLUSION: BMSC-Exos could attenuate ALP dysfunction by restoring lysosomal function after CIRI by inhibiting mTOR and then promoting TFEB nucleus translocation.


Subject(s)
Autophagy , Exosomes , Lysosomes , Reperfusion Injury , Animals , Male , Rats , Autophagy/physiology , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism , Brain Ischemia/metabolism , Exosomes/metabolism , Exosomes/transplantation , Lysosomes/metabolism , Lysosomes/pathology , Mesenchymal Stem Cells/metabolism , Rats, Sprague-Dawley , Reperfusion Injury/metabolism , Signal Transduction/physiology , TOR Serine-Threonine Kinases/metabolism
5.
Chem Asian J ; 19(10): e202400130, 2024 May 17.
Article in English | MEDLINE | ID: mdl-38380867

ABSTRACT

The creation of hierarchical nanostructures can effectively strengthen phonon scattering to reduce lattice thermal conductivity for improving thermoelectric properties in inorganic solids. Here, we use Zn doping to induce a remarkable reduction in the lattice thermal conductivity in SnTe, approaching the theoretical minimum limit. Microstructure analysis reveals that ZnTe nanoprecipitates can embed within SnTe grains beyond the solubility limit of Zn in the Zn alloyed SnTe. These nanoprecipitates result in a substantial decrease of the lattice thermal conductivity in SnTe, leading to an ultralow lattice thermal conductivity of 0.50 W m-1 K-1 at 773 K and a peak ZT of ~0.48 at 773 K, marking an approximately 45 % enhancement compared to pristine SnTe. This study underscores the effectiveness of incorporating ZnTe nanoprecipitates in boosting the thermoelectric performance of SnTe-based materials.

6.
Eur J Med Res ; 29(1): 75, 2024 Jan 24.
Article in English | MEDLINE | ID: mdl-38268044

ABSTRACT

BACKGROUND: Alzheimer's disease is one common type of dementia. Numerous studies have suggested a correlation between Alzheimer's disease and inflammation. Microglia mainly participate in the inflammatory response in the brain. Currently, ample evidence has shown that microglia are closely related to the occurrence and development of Alzheimer's disease. OBJECTIVE: We opted for bibliometric analysis to comprehensively summarize the advancements in the study of microglia in Alzheimer's disease, aiming to provide researchers with current trends and future research directions. METHODS: All articles and reviews pertaining to microglia in Alzheimer's disease from 2000 to 2022 were downloaded through Web of Science Core Collection. The results were subjected to bibliometric analysis using VOSviewer 1.6.18 and CiteSpace 6.1 R2. RESULTS: Overall, 7449 publications were included. The number of publications was increasing yearly. The United States has published the most publications. Harvard Medical School has published the most papers of all institutions. Journal of Alzheimer's Disease and Journal of Neuroscience were the journals with the most studies and the most commonly cited, respectively. Mt Heneka is the author with the highest productivity and co-citation. After analysis, the most common keywords are neuroinflammation, amyloid-beta, inflammation, neurodegeneration. Gut microbiota, extracellular vesicle, dysfunction and meta-analysis are the hotspots of research at the present stage and are likely to continue. CONCLUSION: NLRP3 inflammasome, TREM2, gut microbiota, mitochondrial dysfunction, exosomes are research hotspots. The relationship between microglia-mediated neuroinflammation and Alzheimer's disease have been the focus of current research and the development trend of future research.


Subject(s)
Alzheimer Disease , Humans , Bibliometrics , Inflammation , Microglia , Neuroinflammatory Diseases
7.
ACS Nano ; 18(2): 1678-1689, 2024 Jan 16.
Article in English | MEDLINE | ID: mdl-38164927

ABSTRACT

Incorporating donor doping into Mg3Sb1.5Bi0.5 to achieve n-type conductivity is one of the crucial strategies for performance enhancement. In pursuit of higher thermoelectric performance, we herein report co-doping with Te and Y to optimize the thermoelectric properties of Mg3Sb1.5Bi0.5, achieving a peak ZT exceeding 1.7 at 703 K in Y0.01Mg3.19Sb1.5Bi0.47Te0.03. Guided by first-principles calculations for compositional design, we find that Te-doping shifts the Fermi level into the conduction band, resulting in n-type semiconductor behavior, while Y-doping further shifts the Fermi level into the conduction band and reduces the bandgap, leading to enhanced thermoelectric performance with a power factor as high as >20 µW cm-1 K-2. Additionally, through detailed micro/nanostructure characterizations, we discover that Te and Y co-doping induces dense crystal and lattice defects, including local lattice distortions and strains caused by point defects, and densely distributed grain boundaries between nanocrystalline domains. These defects efficiently scatter phonons of various wavelengths, resulting in a low thermal conductivity of 0.83 W m-1 K-1 and ultimately achieving a high ZT. Furthermore, the dense lattice defects induced by co-doping can further strengthen the mechanical performance, which is crucial for its service in devices. This work provides guidance for the composition and structure design of thermoelectric materials.

8.
J Biomed Opt ; 28(11): 116502, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38078150

ABSTRACT

Significance: HiLo microscopy synthesizes an optically sectioned image from two images, one obtained with uniform and another with patterned illumination, such as laser speckle. Speckle-based HiLo has the advantage of being robust to aberrations but is susceptible to residual speckle noise that is difficult to control. We present a computational method to reduce this residual noise without undermining resolution. In addition, we improve the versatility of HiLo microscopy by enabling simultaneous multiplane imaging (here nine planes). Aim: Our goal is to perform fast, high-contrast, multiplane imaging with a conventional camera-based fluorescence microscope. Approach: Multiplane HiLo imaging is achieved with the use of a single camera and z-splitter prism. Speckle noise reduction is based on the application of a non-local means (NLM) denoising method to perform ensemble averaging of speckle grains. Results: We demonstrate the capabilities of multiplane HiLo with NLM denoising both with synthesized data and by imaging cardiac and brain activity in zebrafish larvae at 40 Hz frame rates. Conclusions: Multiplane HiLo microscopy aided by NLM denoising provides a simple tool for fast optically sectioned volumetric imaging that can be of general utility for fluorescence imaging applications.


Subject(s)
Lighting , Microscopy , Animals , Zebrafish , Light , Lasers
9.
ACS Appl Mater Interfaces ; 15(46): 53594-53603, 2023 Nov 22.
Article in English | MEDLINE | ID: mdl-37948678

ABSTRACT

Mg3Sb2-based thermoelectric materials can convert heat and electricity into each other, making them a promising class of environmentally friendly materials. Further improving the electrical performance while effectively reducing the thermal conductivity is a crucial issue. In this paper, under the guidance of the oneness principle calculation, we designed a thermoelectric Zintl phase based on Mg3.2Sb1.5Bi0.5 doped with Tb and Er. Calculation results show that using Tb and Er as cationic site dopants effectively improves the electrical properties and reduces the lattice thermal conductivity. Experimental results confirmed the effectiveness of codoping and effectively enhanced thermoelectric performance. The most immense ZT value obtained by the Mg3.185Tb0.01Er0.005Sb1.5Bi0.5 sample was 1.71. In addition, the average Young's modulus of the Mg3.185Tb0.01Er0.005Sb1.5Bi0.5 sample is 51.85 GPa, and the Vickers hardness is 0.99 GPa. Under the same test environment, the material was subjected to 12 cycles in the temperature range of 323-723 K, and the average power factor error range was 1.8% to 2.1%, which is of practical significance for its application in actual device scenarios.

10.
ACS Appl Mater Interfaces ; 15(29): 35178-35185, 2023 Jul 26.
Article in English | MEDLINE | ID: mdl-37432880

ABSTRACT

Optimizing the performance of thermoelectric materials by reducing its thermal conductivity is crucial to enhance its thermoelectric efficiency. Novel thermoelectric materials like the CuGaTe2 compound are hindered by high intrinsic thermal conductivity, which negatively impacts its thermoelectric performance. In this paper, we report that the introduction of AgCl by the solid-phase melting method will influence the thermal conductivity of CuGaTe2. The generated multiple scattering mechanisms are expected to reduce the lattice thermal conductivity while maintaining sufficient good electrical properties. The experimental results were supported by first-principles calculations confirming that the doping of the Ag will decrease the elastic constants, bulk modulus, and shear modulus of CuGaTe2, which makes the mean sound velocity and Debye temperature of Ag-doped samples lower than those of CuGaTe2, indicating the lower lattice thermal conductivity. In addition, the Cl elements within the CuGaTe2 matrix escaping during the sintering process will create holes of various sizes within the sample. These combined effects of holes and impurities will induce phonon scattering, which further reduces the lattice thermal conductivity. Based on our findings, we conclude that the introduction of AgCl into CuGaTe2 has shown a lower thermal conductivity without compromising the electrical performance, resulting in an ultra-high ZT value of 1.4 in the (CuGaTe2)0.96(AgCl)0.04 sample at 823 K.

11.
Front Cardiovasc Med ; 10: 1113509, 2023.
Article in English | MEDLINE | ID: mdl-37332584

ABSTRACT

Objective: To explore the effects of inspiratory muscle training (IMT) on hypertension and provide guidance for its clinical application as an auxiliary approach. Methods: Articles published prior to July 2022 were searched in Cochrane Library, Web of Science, PubMed, Embase, CNKI, and Wanfang databases. Included were randomized controlled studies that used IMT to treat individuals with hypertension. The mean difference (MD) was computed using the Revman 5.4 software. In individuals with hypertension, the effects of IMT on systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and pulse pressure (PP) were compared and studied. Results: There were found to be eight randomized controlled trials totaling 215 patients. According to a meta-analysis, the IMT reduced the SBP (MD: -12.55 mmHg, 95% CI: -15.78, -9.33), DBP (MD: -4.77 mmHg, 95% CI: -6.00, -3.54), HR (MD: -5.92 bpm, 95% CI: -8.72, -3.12), and PP (MD: -8.92 mmHg, 95% CI: -12.08, -5.76) in patients with hypertension. In subgroup analyses, low-intensity IMT showed a better reduction in SBP (MD: -14.47 mmHg, 95% CI: -17.60, -11.34), DBP (MD: -7.70 mmHg, 95% CI: -10.21, -5.18). Conclusion: IMT may become an auxiliary means to improve the four hemodynamic indexes (SBP, DBP, HR and PP) in patients with hypertension. In subgroup analyses, low-intensity IMT was more effective in regulating blood pressure than medium-high-intensity IMT. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/, identifier: CRD42022300908.

12.
Front Pharmacol ; 14: 1111815, 2023.
Article in English | MEDLINE | ID: mdl-36937837

ABSTRACT

Background: Stroke is one of the leading causes of mortality and permanent disability worldwide. However, the current stroke treatment has a limited effect. Therefore, a new treatment is urgently needed. Stem cell therapy is a cutting-edge treatment for stroke patients. This study aimed to gain better understanding of global stem cell trends in stroke via a bibliometric analysis. Methods: We used the Web of Science Core Collection to search pertinent articles about stem cells in stroke published between 2004 and 2022. Analysis was conducted using CiteSpace, VOSviewer, and the R package "bibliometrix" to identify publication outputs, countries/regions, institutions, authors/co-cited authors, journals/co-cited journals, co-cited references, and keywords. Results: A total of 6,703 publications were included in the bibliometric analysis. The total number of citations significantly and rapidly increased between 2004 and 2022, with the most pronounced growth pattern observed in the period of 2008-2009. In terms of authoritarian countries, the USA had the most publications among the countries. As for institutions and authors, the most prolific institution was the University of South Florida, followed by Oakland University and then Shanghai Jiao Tong University, and Chopp, M. and Borlongan, Cesario V, had the most output among the authors. Regarding the journals, Cell Transplantation had the highest publication, followed by Brain Research. As for references, "Mesenchymal stem cells as trophic mediators" was the most frequently cited (2,082), and the article entitled Neuronal replacement from endogenous precursors in the adult brain after stroke had the strongest burstiness (strength = 81.35). Emerging hot words in the past decade included "adhesion molecule," "mesenchymal stromal cell," "extracellular vesicle," "pluripotent stem cells," "signaling pathway," "plasticity," and "exosomes." Conclusion: Between 2004 and 2022, the terms "neurogenesis," "angiogenesis," "mesenchymal stem cells," "extracellular vesicle," "exosomes," "inflammation," and "oxidative stress" have emerged as the hot research areas for research on stem cells in stroke. Although stem cells exert a number of positive effects, the main mechanisms for mitigating the damage caused by stroke are still unknown. Clinical challenges may include complicating factors that can affect the efficacy of stem cell therapy, which are worth a deep exploration.

13.
ACS Appl Mater Interfaces ; 15(6): 8327-8335, 2023 Feb 15.
Article in English | MEDLINE | ID: mdl-36731875

ABSTRACT

Germanium telluride (GeTe) compounds exhibit excellent thermoelectric performance. In this study, copper selenide (Cu2Se) was used to tune the crystal structure and carrier concentration (nH) of GeTe materials. The zT of the 1% Cu2Se-doped GeTe sample reaches 1.32, which is 52% higher than that of the pure phase. The results show that Cu2Se tunes the GeTe crystal structure and carrier concentration to achieve promising enhancements to the thermoelectric performance. Meanwhile, a herringbone-like crystal structure that reduces the lattice thermal conductivity was observed. However, because the directional movement of Cu ions at high temperatures leads to an increase in electrical conductivity, the electronic thermal conductivity also increased. This study focuses on crystal engineering strategies for the study of nontoxic thermoelectric materials.

14.
Front Neurol ; 14: 1074922, 2023.
Article in English | MEDLINE | ID: mdl-36779051

ABSTRACT

Background: One of the main objectives of stroke rehabilitation is to alleviate post-stroke spasticity. Over the recent years, many studies have explored the potential benefits of whole-body vibration (WBV) treatment for post-stroke spasticity, but it is still controversial. Objective: The current study aims to assess the efficacy and safety of WBV for post-stroke spasticity and determine the appropriate application situation. Methods: From their establishment until August 2022, the following databases were searched: PubMed, Web of Science, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), Medline, China National Knowledge Infrastructure (CNKI), and Wanfang. Only randomized controlled trials (RCTs) that were published in either English or Chinese were taken into consideration. We independently filtered the research, gathered the data from the studies, and evaluated the research quality (Cochrane RoB tool) and the overall evidence quality (GRADE). Rev Man 5.4 software was utilized to conduct statistical analysis. Results: In this analysis, 11 RCTs with 475 patients that reported on the effectiveness of WBV therapy for post-stroke spasticity were taken into account. Compared to the control groups, the results revealed that WBV combined with conventional rehabilitation at a vibration frequency lower than 20 Hz (SMD = -0.58, 95% CI: -0.98 to -0.19, P = 0.004) was more effective in relieving upper (SMD = -0.53, 95% CI: -1.04 to 0.03, P = 0.03) and lower limb spasticity (SMD = -0.21, 95% CI: -0.40 to -0.01, P = 0.04); similarly, it was superior for patients aged under 60 years (SMD = -0.41, 95% CI: -0.66 to -0.17, P = 0.0008) with acute and subacute stroke (SMD = -0.39, 95% CI: -0.68 to -0.09, P = 0.01). The valid vibration for reducing spasticity was found to last for 10 min (SMD = -0.41, 95% CI: -0.75 to -0.07, P = 0.02). None of the included studies revealed any serious adverse impact. Conclusion: Moderate-quality evidence demonstrated when WBV was used as an adjuvant, vibration <20 Hz for 10 min was effective and secure in treating upper and lower limb spasticity in patients with acute and subacute stroke under the age of 60 years. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier: CRD42022293951.

15.
Front Neurol ; 14: 1091252, 2023.
Article in English | MEDLINE | ID: mdl-36779055

ABSTRACT

Objective: In this study, we aimed to investigate the effects of non-invasive brain stimulation (NIBS) on cognitive and motor functions in patients with multiple sclerosis (pwMS). Methods: A literature search was performed in the Cochrane Library, Embase, PubMed, Web of Science, Medline, CNKI, and Wan fang. The time interval used for database construction was up to December 2022, and the language was not limited. The collected trials were subsequently screened, the data were extracted, the quality was evaluated, and the effect sizes were computed using STATA/MP Version 13 for outcome analysis. Standard mean difference (SMD) and 95% confidence interval (CI) were calculated for domain of interest. Results: In total, 17 articles that examined 364 patients with multiple sclerosis were included in this analysis. Non-invasive brain stimulation did not improve the overall cognitive function [SMD = 0.18, 95% CI (-0.32, 0.69), P = 0.475] but helped improve motor function in patients [SMD = 0.52, 95% CI (0.19, 0.85), P = 0.002]. Moreover, this study specifically indicated that non-invasive brain stimulation improved alerting [SMD = 0.68, 95% CI (0.09, 1.26), P = 0.02], whereas non-invasive brain stimulation intervention improved motor function in patients aged <45 years [SMD = 0.67, 95% CI (0.23, 1.10), P = 0.003] and in patients with expanded disability status scale scores (EDSS) <3.5 [SMD = 0.82, 95% CI (0.22, 1.42), P = 0.007]. In particular, NIBS contributed to the improvement of spasticity in pwMS [SMD = 0.68, 95% CI (0.13, 1.23), P = 0.015]. Conclusion: These results of this present study provide evidence that non-invasive brain stimulation could improve alertness in pwMS. Furthermore, NIBS may help pwMS with motor function and those who are under 45 years of age or with EDSS < 3.5 improve their motor function. For the therapeutic use of NIBS, we recommend applying transcranial magnetic stimulation as an intervention and located on the motor cortex M1 according to the subgroup analysis of motor function. These findings warrant verification. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022301012.

16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(1): 42-46, 2023 Jan 10.
Article in Chinese | MEDLINE | ID: mdl-36584999

ABSTRACT

OBJECTIVE: To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID). METHODS: Clinical data of the proband and her family members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were carried out. For the suspected genetic variants, Sanger sequencing was used to verify, and pathogenicity assessment was conducted. RESULTS: The proband and her mother both had intellectual and language impairment, and their fetal hemoglobin (HbF) was significantly elevated. A heterozygous c.1327_c.1328delTC (p.Ser443Hisfs*128) variant was found in exon 4 of the BCL11A gene by WES, which has resulted in truncated expression of the encoded protein, and Sanger sequencing has verified that the variant was inherited from the mother. The variant was not found in related databases. The variant was predicted as pathogenic according to the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PM2+PP1). No karyotypic abnormality was found in the proband, her parents and brother, and no pathogenic CNVs was found in the proband and her parents. CONCLUSION: The c.1327_c.1328delTC (p.Ser443Hisfs*128) variant may underlay the BCL11A-ID in the proband and her mother. This de novo variant has expanded the mutational spectrum of the BCL11A gene.


Subject(s)
Intellectual Disability , Humans , Male , Female , Intellectual Disability/genetics , DNA Copy Number Variations , Pedigree , Mutation , Transcription Factors/genetics , Mothers , Repressor Proteins/genetics
17.
Front Genet ; 14: 1285599, 2023.
Article in English | MEDLINE | ID: mdl-38274109

ABSTRACT

Background: Single-cell sequencing (SCS) is a technique used to analyze the genome, transcriptome, epigenome, and other genetic data at the level of a single cell. The procedure is commonly utilized in multiple fields, including neurobiology, immunology, and microbiology, and has emerged as a key focus of life science research. However, a thorough and impartial analysis of the existing state and trends of SCS-related research is lacking. The current study aimed to map the development trends of studies on SCS during the years 2010-2022 through bibliometric software. Methods: Pertinent papers on SCS from 2010 to 2022 were obtained using the Web of Science Core Collection. Research categories, nations/institutions, authors/co-cited authors, journals/co-cited journals, co-cited references, and keywords were analyzed using VOSviewer, the R package "bibliometric", and CiteSpace. Results: The bibliometric analysis included 9,929 papers published between 2010 and 2022, and showed a consistent increase in the quantity of papers each year. The United States was the source of the highest quantity of articles and citations in this field. The majority of articles were published in the periodical Nature Communications. Butler A was the most frequently quoted author on this topic, and his article "Integrating single-cell transcriptome data across diverse conditions, technologies, and species" has received numerous citations to date. The literature and keyword analysis showed that studies involving single-cell RNA sequencing (scRNA-seq) were prominent in this discipline during the study period. Conclusion: This study utilized bibliometric techniques to visualize research in SCS-related domains, which facilitated the identification of emerging patterns and future directions in the field. Current hot topics in SCS research include COVID-19, tumor microenvironment, scRNA-seq, and neuroscience. Our results are significant for scholars seeking to identify key issues and generate new research ideas.

18.
Opt Lett ; 47(24): 6333-6336, 2022 Dec 15.
Article in English | MEDLINE | ID: mdl-36538431

ABSTRACT

When performing spatial or temporal laser speckle contrast imaging (LSCI), contrast is generally estimated from localized windows containing limited numbers of independent speckle grains NS. This leads to a systematic bias in the estimated speckle contrast. We describe an approach to determine NS and largely correct for this bias, enabling a more accurate estimation of the speckle decorrelation time without recourse to numerical fitting of data. Validation experiments are presented where measurements are ergodic or non-ergodic, including in vivo imaging of mouse brain.


Subject(s)
Diagnostic Imaging , Lasers , Mice , Animals , Selection Bias , Diagnostic Imaging/methods , Laser Speckle Contrast Imaging
19.
Biomed Opt Express ; 13(8): 4118-4133, 2022 Aug 01.
Article in English | MEDLINE | ID: mdl-36032565

ABSTRACT

Laser speckle contrast imaging (LSCI) has gained broad appeal as a technique to monitor tissue dynamics (broadly defined to include blood flow dynamics), in part because of its remarkable simplicity. When laser light is backscattered from a tissue, it produces speckle patterns that vary in time. A measure of the speckle field decorrelation time provides information about the tissue dynamics. In conventional LSCI, this measure requires numerical fitting to a specific theoretical model for the field decorrelation. However, this model may not be known a priori, or it may vary over the image field of view. We describe a method to reconstruct the speckle field decorrelation time that is completely model free, provided that the measured speckle dynamics are ergodic. We also extend our approach to allow for the possibility of non-ergodic measurements caused by the presence of a background static speckle field. In both ergodic and non-ergodic cases, our approach accurately retrieves the correlation time without any recourse to numerical fitting and is largely independent of camera exposure time. We apply our method to tissue phantom and in-vivo mouse brain imaging. Our aim is to facilitate and add robustness to LSCI processing methods for potential clinical or pre-clinical applications.

20.
Phys Chem Chem Phys ; 24(16): 9247-9255, 2022 Apr 20.
Article in English | MEDLINE | ID: mdl-35389392

ABSTRACT

The MnGeTe2 compound crystallizes in a cubic structure without any phase transition and has great potential for enhancing the thermoelectric merit of MnGeTe2-based materials. In this work, Sb was used as an effective dopant to replace Ge sites in MnGeTe2 compounds. By optimizing the carrier concentration, excellent power factors can be obtained in the tested temperature range. Meanwhile, the characterization results show that Sb doping introduces point defects and induces grain refinement, which enhances phonon scattering and improves thermoelectric transport performance by reducing lattice thermal conductivity. Eventually, the ZT value increases from ∼0.65 for pure phase MnGeTe2 to ∼0.84 for MnGe0.90Sb0.1Te2 at 717 K by synergistic regulation of the electrical and thermal conductivities. In addition, the hardness test results of the samples show that the doping of Sb endows the MnGeTe2-based thermoelectric material with a higher Vickers hardness (>200 HV) and shows favorable mechanical properties.

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