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1.
Small Methods ; : e2400408, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38949412

RESUMO

Adverse side reactions and uncontrolled Zn dendrites growth are the dominant factors that have restricted the application of Zn ion batteries. Herein, a 3D self-supporting porous carbon fibers (denoted as PCFs) host is developed with "trap" effect to adjust the Zn deposition. The unique open structural design of N-doped carbon can act as the zincophilic sites to induce uniform deposition and inhibit adverse side reactions. More importantly, the porous hollow PCFs host with "trap" effect can induce Zn deposition in the fiber by adjusting the local electric field and current density, thereby increasing the specific energy density of the battery and inhibiting dendrite growth. In addition, the 3D open frameworks can regulate Zn2+ flux to enable outstanding cycling performance at ultra-high current densities. As expected, the PCFs framework guarantees the uniform Zn plating and stripping with an outstanding stability over 6000 cycles at the current density of 40 mA cm-2. And the Zn@PCFs||MnO2 full battery shows an excellent lifespan over 1300 cycles at 2000 mA g-1.

2.
Artigo em Chinês | MEDLINE | ID: mdl-38858123

RESUMO

Objective:To evaluate the diagnostic efficacy of traditional radiomics, deep learning, and deep learning radiomics in differentiating normal and inner ear malformations on temporal bone computed tomography(CT). Methods:A total of 572 temporal bone CT data were retrospectively collected, including 201 cases of inner ear malformation and 371 cases of normal inner ear, and randomly divided into a training cohort(n=458) and a test cohort(n=114) in a ratio of 4∶1. Deep transfer learning features and radiomics features were extracted from the CT images and feature fusion was performed to establish the least absolute shrinkage and selection operator. The CT results interpretated by two chief otologists from the National Clinical Research Center for Otorhinolaryngological Diseases served as the gold standard for diagnosis. The model performance was evaluated using receiver operating characteristic(ROC), and the accuracy, sensitivity, specificity, and other indicators of the models were calculated. The predictive power of each model was compared using the Delong test. Results:1 179 radiomics features were obtained from traditional radiomics, 2 048 deep learning features were obtained from deep learning, and 137 features fusion were obtained after feature screening and fusion of the two. The area under the curve(AUC) of the deep learning radiomics model on the test cohort was 0.964 0(95%CI 0.931 4-0.996 8), with an accuracy of 0.922, sensitivity of 0.881, and specificity of 0.945. The AUC of the radiomics features alone on the test cohort was 0.929 0(95%CI 0.882 2-0.974 9), with an accuracy of 0.878, sensitivity of 0.881, and specificity of 0.877. The AUC of the deep learning features alone on the test cohort was 0.947 0(95%CI 0.898 2-0.994 8), with an accuracy of 0.913, sensitivity of 0.810, and specificity of 0.973. The results indicated that the prediction accuracy and AUC of the deep learning radiomics model are the highest. The Delong test showed that the differences between any two models did not reach statistical significance. Conclusion:The feature fusion model can be used for the differential diagnosis of normal and inner ear malformations, and its diagnostic performance is superior to radiomics or deep learning models alone.


Assuntos
Aprendizado Profundo , Orelha Interna , Osso Temporal , Tomografia Computadorizada por Raios X , Humanos , Osso Temporal/diagnóstico por imagem , Osso Temporal/anormalidades , Orelha Interna/diagnóstico por imagem , Orelha Interna/anormalidades , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Masculino , Feminino , Sensibilidade e Especificidade , Curva ROC , Radiômica
3.
J Biomed Mater Res A ; 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38700258

RESUMO

Acute kidney injury (AKI) is a life-threatening disease primarily caused by renal ischemia-reperfusion (I/R) injury, which can result in renal failure. Currently, growth factor therapy is considered a promising and effective approach for AKI treatment. Basic fibroblast growth factor (bFGF), an angiogenic factor with potent activity, efficiently stimulates angiogenesis and facilitates regeneration of renal tissue. However, the unrestricted diffusion of bFGF restricts its clinical application in AKI treatment. Therefore, developing a novel sustained released system for bFGF could enhance its potential in treating AKI. In this study, we genetically engineered a multifunctional recombinant protein by fusing bFGF with a specific peptide (EBP). EBP-bFGF effectively binds to the extracellular matrix in the injured kidney, enabling slow release of bFGF in AKI. Furthermore, following orthotopic injection into I/R rats' ischemic kidneys, EBP-bFGF exhibited stable retention within the tissue. Additionally, EBP-bFGF suppressed apoptosis of renal cells, reduced renal fibrosis, and facilitated recovery of renal function. These findings suggest that EBP-bFGF delivery system represents a promising strategy for treating AKI.

4.
Regen Ther ; 25: 162-173, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38178930

RESUMO

Introduction: Acute kidney injury (AKI) was a disease with a high mortality mainly caused by renal ischemia/reperfusion injury (I/R). Although the current non-targeted administration of vascular endothelial growth factor (VEGF) for AKI had been revealed to facilitate the recovery of renal I/R, how to targeted deliver VEGF and to retain it efficiently in the ischemic kidney was critical for its clinical application. Methods: In present study, bi-functional KIT-PR1P peptides were constructed which bond VEGF through PR1P domain, and targeted ischemic kidney through KIT domain to interact with biomarker of AKI-kidney injury molecule-1 (Kim-1). Then the targeted and therapeutic effects of KIT-PR1P/VEGF in AKI was explored in vitro and in vivo. Results: The results showed KIT-PR1P exhibited better angiogenic capacity and targeting ability to hypoxia HK-2 cells with up-regulated Kim-1 in vitro. When KIT-PR1P/VEGF was used for the treatment of renal I/R through intravenous administration in vivo, KIT-PR1P could guide VEGF and retain its effective concentration in ischemic kidney. In addition, KIT-PR1P/VEGF promoted angiogenesis, alleviated renal tubular injury and fibrosis, and finally promoted functional recovery of renal I/R. Conclusion: These results indicated that the bi-functional KIT-PR1P peptides combined with VEGF would be a promising strategy for the treatment of AKI by targeting to Kim-1.

5.
Clin Chem ; 69(12): 1396-1408, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37963809

RESUMO

BACKGROUND: Due to technical issues related to cell-specific capture methods, amplification, and sequencing, noninvasive prenatal testing (NIPT) based on fetal nucleated red blood cells (fNRBCs) has rarely been used for the detection of monogenic disorders. METHODS: Maternal peripheral blood was collected from 11 families with hereditary hearing loss. After density gradient centrifugation and cellular immunostaining for multiple biomarkers, candidate individual fetal cells were harvested by micromanipulation and amplified by whole-genome amplification (WGA). Whole-exome sequencing/whole-genome sequencing (WGS) and Sanger sequencing were performed on the identified fNRBCs to determine the fetal genotype. The impact of single-cell and pooled WGA products on the sequencing quality and results was compared. A combined analysis strategy, encompassing whole-exome sequencing/WGS, haplotype analysis, and Sanger sequencing, was used to enhance the NIPT results. RESULTS: fNRBCs were harvested and identified in 81.8% (9/11) of families. The results of cell-based-NIPT (cb-NIPT) were consistent with those of invasive prenatal diagnosis in 8 families; the coincidence rate was 88.9% (8/9). The combined analysis strategy improved the success of cb-NIPT. The overall performance of pooled WGA products was better than that of individual cells. Due to a lack of alternative fetal cells or sufficient sequencing data, cb-NIPT failed in 3 families. CONCLUSIONS: We developed a novel fNRBC-based NIPT method for monogenic disorders. By combining multiple analysis strategies and multiple fetal cell WGA products, the problem of insufficient genome information in a single cell was remedied. Our method has promising prospects in the field of NIPT for the detection of monogenic disorders.


Assuntos
Teste Pré-Natal não Invasivo , Gravidez , Feminino , Humanos , Diagnóstico Pré-Natal/métodos , Cuidado Pré-Natal , Feto , Eritrócitos
6.
Proteins ; 91(12): 1704-1711, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37565699

RESUMO

We present the monomer and multimer structure prediction results of our methods in CASP15. We first designed an elaborate pipeline that leverages complementary sequence databases and advanced database searching algorithms to generate high-quality multiple sequence alignments (MSAs). Top MSAs were then selected for the subsequent step of structure prediction. We utilized trRosettaX2 and AlphaFold2 for monomer structure prediction (group name Yang-Server), and AlphaFold-Multimer for multimer structure prediction (group name Yang-Multimer). Yang-Server and Yang-Multimer are ranked at the top and the fourth, respectively, for monomer and multimer structure prediction. For 94 monomers, the average TM-score of the predicted structure models by Yang-Server is 0.876, compared to 0.798 by the default AlphaFold2 (i.e., the group NBIS-AF2-standard). For 42 multimers, the average DockQ score of the predicted structure models by Yang-Multimer is 0.464, compared to 0.389 by the default AlphaFold-Multimer (i.e., the group NBIS-AF2-multimer). Detailed analysis of the results shows that several factors contribute to the improvement, including improved MSAs, iterated modeling for large targets, interplay between monomer and multimer structure prediction for intertwined structures, etc. However, the structure predictions for orphan proteins and multimers remain challenging, and breakthroughs in this area are anticipated in the future.


Assuntos
Algoritmos , Furilfuramida , Alinhamento de Sequência , Bases de Dados de Ácidos Nucleicos
7.
Int J Womens Health ; 15: 987-1002, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37424699

RESUMO

Objective: To explore the correlation of female vaginal microbiota and immune factors with cervical cancer. Methods: The distribution pattern difference of vaginal microbiota of four groups of women (cervical cancer, HPV-positive CIN, HPV-positive non-CIN, and HPV-negative groups) were compared by microbial 16S rDNA sequencing. The protein chip was used to detect the composition and changes of the immune factors in the four groups. Results: Alpha diversity analysis demonstrated that the diversity of the vaginal microbiota was increased as the disease develops. Among those bacteria abundant in the vaginal microbiota, Lactobacillus, Prevotella, and Gardnerella dominate at the genus level of vaginal flora. Compared with the HPV-negative group, the differentially dominant bacteria, such as Prevotella, Ralstonia, Gardnerella and Sneathia, are enriched in the cervical cancer group. Likewise, Gardnerella, Prevotella, and Sneathia are more in the HPV-positive CIN group, while Gardnerella and Prevotella in the HPV-positive non-CIN group, respectively. In contrast, Lactobacillus and Atopobium are dominant in the HPV-negative group (LDA>4log10). The concentration of inflammatory immune factors IP-10 and VEGF-A were increased in the cervical cancer group (P < 0.05), compared with other groups. Conclusion: The occurrence of cervical cancer is related to an increase of vaginal microbiota diversity and up-regulation of inflammatory immune factor proteins. The abundance of Lactobacillus was decreased while the one of Prevotella and Gardnerella were increased in the cervical cancer group, compared with other three groups. Moreover, the IP-10 and VEGF-A were also increased in the cervical cancer group. Thus, evaluation of changes in the vaginal microbiota and these two immune factor levels might be a potential non-invasive and simple method to predict cervical cancer. Furthermore, it is significant to adjust and restore the balance of vaginal microbiota and maintain normal immune function in preventing and treating cervical cancer.

8.
J Mol Med (Berl) ; 101(5): 501-526, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37014377

RESUMO

Cardiovascular disease (CVD) is the leading cause of disease-related death worldwide and a significant obstacle to improving patients' health and lives. Mitochondria are core organelles for the maintenance of myocardial tissue homeostasis, and their impairment and dysfunction are considered major contributors to the pathogenesis of various CVDs, such as hypertension, myocardial infarction, and heart failure. However, the exact roles of mitochondrial dysfunction involved in CVD pathogenesis remain not fully understood. Non-coding RNAs (ncRNAs), particularly microRNAs, long non-coding RNAs, and circular RNAs, have been shown to be crucial regulators in the initiation and development of CVDs. They can participate in CVD progression by impacting mitochondria and regulating mitochondrial function-related genes and signaling pathways. Some ncRNAs also exhibit great potential as diagnostic and/or prognostic biomarkers as well as therapeutic targets for CVD patients. In this review, we mainly focus on the underlying mechanisms of ncRNAs involved in the regulation of mitochondrial functions and their role in CVD progression. We also highlight their clinical implications as biomarkers for diagnosis and prognosis in CVD treatment. The information reviewed herein could be extremely beneficial to the development of ncRNA-based therapeutic strategies for CVD patients.


Assuntos
Doenças Cardiovasculares , MicroRNAs , RNA Longo não Codificante , Humanos , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/tratamento farmacológico , RNA não Traduzido/genética , RNA não Traduzido/metabolismo , MicroRNAs/genética , MicroRNAs/uso terapêutico , RNA Longo não Codificante/genética , Biomarcadores , Mitocôndrias/genética , Mitocôndrias/metabolismo
9.
Heliyon ; 9(1): e12875, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36711307

RESUMO

The digital economy is pushing more efficient and greener production and innovation processes, as well as quickening the mobility of production factors, which would have a critical impact on improving industrial green innovation efficiency. Based on the panel data of 30 Chinese provinces from 2005 to 2019, this study established a comprehensive index system to assess the level of provincial digital economy development, and adopted the SBM-DEA model including non-expected output to evaluate industrial green innovation efficiency, then adopted the Global Moran's I and Local Moran's I to test whether there is spatial autocorrelation, followed by the spatial Durbin model (SDM) and the mediating effect test model to investigate the direct impact, spatial spillover effect and indirect transmission mechanism of the digital economy on industrial green innovation efficiency. The results show that: both the development level of the digital economy and industrial green innovation efficiency show positive spatial autocorrelation; The digital economy not only has a significant direct role in promoting industrial green innovation efficiency but also has a spatial spillover effect; The digital economy can improve industrial green innovation efficiency by promoting manufacturing structure upgrading and stimulating enterprises' green technology innovation. The findings of this paper are helpful for policymakers to clarify the relationship between the digital economy and industrial green innovation efficiency and provide favorable policy directions for developing the digital economy to promote industrial green innovation efficiency.

10.
J Colloid Interface Sci ; 633: 546-554, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36470135

RESUMO

Defects engineering has played an ever-increasing important role in electrochemistry, especially secondary lithium batteries. TiO2 is regarded as a promising anode due to its attractive cycling stability, low volume strain and great abundance, while challenges of intrinsic poor electrical and ionic conductivity remain to be addressed. Herein, we report a three-in-one oxygen vacancy (VO)-involved pomegranate design for TiO2-x/C composite anode, which provides highly improved electrical conduction, shortened Li+ pathway and promoted Li+ redox. N-doped mesoporous carbon acts as a robust scaffold to support the whole structure, electron highway and efficient reductant to generate VO on TiO2 nanoparticles during crystallization. Theoretical calculations reveal the crucial role of surface VO on TiO2 in Li electrochemistry. Resultantly, the optimal TiO2-x/C anode achieves significantly enhanced cycling performance (203 mAh/g retained after 2000 cycles at 1 A/g). Postmortem analysis reveals the robustness of VO and reasonable structure stability upon cycles for improved battery performance.


Assuntos
Carbono , Lítio , Cristalização , Oxigênio
11.
Mol Med ; 28(1): 132, 2022 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-36348274

RESUMO

Cancer is a leading disease-related cause of death worldwide. Despite advances in therapeutic interventions, cancer remains a major global public health problem. Cancer pathogenesis is extremely intricate and largely unknown. Fas-associated protein with death domain (FADD) was initially identified as an adaptor protein for death receptor-mediated extrinsic apoptosis. Recent evidence suggests that FADD plays a vital role in non-apoptotic cellular processes, such as proliferation, autophagy, and necroptosis. FADD expression and activity of are modulated by a complicated network of processes, such as DNA methylation, non-coding RNA, and post-translational modification. FADD dysregulation has been shown to be closely associated with the pathogenesis of numerous types of cancer. However, the detailed mechanisms of FADD dysregulation involved in cancer progression are still not fully understood. This review mainly summarizes recent findings on the structure, functions, and regulatory mechanisms of FADD and focuses on its role in cancer progression. The clinical implications of FADD as a biomarker and therapeutic target for cancer patients are also discussed. The information reviewed herein may expand researchers' understanding of FADD and contribute to the development of FADD-based therapeutic strategies for cancer patients.


Assuntos
Apoptose , Neoplasias , Humanos , Proteína de Domínio de Morte Associada a Fas/genética , Proteína de Domínio de Morte Associada a Fas/metabolismo , Apoptose/genética , Processos Neoplásicos , Neoplasias/genética , Transdução de Sinais
12.
J Mol Med (Berl) ; 100(7): 997-1015, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35680690

RESUMO

Gastric cancer (GC) is the fifth most frequently diagnosed cancer worldwide and the third leading cause of cancer-related death with an oncological origin. Despite its decline in incidence and mortality in recent years, GC remains a global public problem that seriously threatens patients' health and lives. The forkhead box O proteins (FOXOs) are a family of evolutionarily conserved transcription factors (TFs) with crucial roles in cell fate decisions. In mammals, the FOXO family consists of four members FOXO1, 3a, 4, and 6. FOXOs play crucial roles in a variety of biological processes, such as development, metabolism, and stem cell maintenance, by regulating the expression of their target genes in space and time. An accumulating amount of evidence has shown that the dysregulation of FOXOs is involved in GC progression by affecting multiple cellular processes, including proliferation, apoptosis, invasion, metastasis, cell cycle progression, carcinogenesis, and resistance to chemotherapeutic drugs. In this review, we systematically summarize the recent findings on the regulatory mechanisms of FOXO family expression and activity and elucidate its roles in GC progression. Moreover, we also highlight the clinical implications of FOXOs in GC treatment.


Assuntos
Neoplasias Gástricas , Animais , Apoptose , Carcinogênese , Diferenciação Celular , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/metabolismo , Humanos , Mamíferos/metabolismo , Neoplasias Gástricas/genética
13.
Cancer Lett ; 540: 215724, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35545128

RESUMO

Cancer is one of the major causes of death and a significant obstacle to increasing life expectancy worldwide. Chemotherapy remains the first-line adjuvant therapeutic option for all stages of cancer, and it can effectively improve patients' prognosis in the short term. However, its long-term effect on extending patient survival is limited due to the emergence of drug resistance. The mechanisms involved in drug resistance are complicated and still not fully understood. Forkhead box class O3a (FOXO3a) belongs to the FOXO subfamily of forkhead transcription factors. It plays a crucial role in many aspects of cancer progression and drug resistance. Recent studies have shown that FOXO3a dysregulation contributes to drug resistance development through various mechanisms, including modulating oncogenic signaling pathways, evading apoptosis, promoting excessive drug efflux, inducing autophagy, facilitating epithelial to mesenchymal transition, enhancing DNA damage repair, and altering the characteristics of cancer stem cells. FOXO3a also exhibits great potential as a diagnostic and prognostic biomarker candidate and therapeutic target for cancer patients. In this review, we summarize recent findings on the roles and mechanisms of FOXO3a in cancer drug resistance and highlight its clinical implications as a biomarker and a therapeutic target in cancer treatment.


Assuntos
Transição Epitelial-Mesenquimal , Neoplasias , Apoptose , Linhagem Celular Tumoral , Resistencia a Medicamentos Antineoplásicos , Proteína Forkhead Box O3/genética , Proteína Forkhead Box O3/metabolismo , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição Forkhead/metabolismo , Humanos , Neoplasias/tratamento farmacológico , Neoplasias/genética , Neoplasias/metabolismo
14.
J Pharm Biomed Anal ; 214: 114722, 2022 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-35325799

RESUMO

Pharmaceutical drugs like Sildenafil are illegally added to functional food such as nutritional supplements and herbal remedies to deliver drugs without a regular prescription to consumers. Rapid screening of illegal additives is desirable for the public security department. The seized samples are often large in number and unknown in composition; methods are needed for qualitative screening of unknown samples. Here, a new approach is presented based on atmospheric pressure solids analysis probe (ASAP) coupled with single-quadrupole mass spectrometer to rapidly screen 42 common illegal additives in six categories of functional food. The ASAP-MS method could be applied to solid or liquid sample analysis with a very simple pre-treatment and no LC chromatographic separation, using a home-built library; the identification of suspicious additives could be obtained rapidly. More importantly, the approach is sensitive enough for complex matrix samples like coffee samples. 21 batches of seized unknown samples were tested by the ASAP-MS, and the positive results were confirmed by LC-MS/MS(QQQ), indicating that the ASAP-MS method is effective and reliable. The ASAP-MS with home-built library is a promising method for rapid screening of illegal additives in functional food, which could be widely used in the grassroots police station that lack professional laboratory environment.


Assuntos
Alimento Funcional , Espectrometria de Massas em Tandem , Pressão Atmosférica , Cromatografia Líquida de Alta Pressão/métodos , Cromatografia Líquida
15.
Front Oncol ; 12: 841411, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35155266

RESUMO

Gastric cancer (GC) is the third leading cause of cancer-related deaths worldwide, with high recurrence and mortality rate. Chemotherapy, including 5-fluorouracil (5-FU), adriamycin (ADR), vincristine (VCR), paclitaxel (PTX), and platinum drugs, remains one of the fundamental methods of GC treatment and has efficiently improved patients' prognosis. However, most patients eventually develop resistance to chemotherapeutic agents, leading to the failure of clinical treatment and patients' death. Recent studies suggest that long non-coding RNAs (lncRNAs) are involved in the drug resistance of GC by modulating the expression of drug resistance-related genes via sponging microRNAs (miRNAs). Moreover, lncRNAs also play crucial roles in GC drug resistance via a variety of mechanisms, such as the regulation of the oncogenic signaling pathways, inhibition of apoptosis, induction of autophagy, modulation of cancer stem cells (CSCs), and promotion of the epithelial-to-mesenchymal transition (EMT) process. Some of lncRNAs exhibit great potential as diagnostic and prognostic biomarkers, as well as therapeutic targets for GC patients. Therefore, understanding the role of lncRNAs and their mechanisms in GC drug resistance may provide us with novel insights for developing strategies for individual diagnosis and therapy. In this review, we summarize the recent findings on the mechanisms underlying GC drug resistance regulated by lncRNAs. We also discuss the potential clinical applications of lncRNAs as biomarkers and therapeutic targets in GC.

16.
Small ; 18(2): e2104354, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34766722

RESUMO

Water splitting is a promising sustainable technology to produce high purity hydrogen, but its commercial application remains a giant challenge due to the kinetically sluggish oxygen evolution reaction (OER). In this work, a time- and energy-saving approach to directly grow NiFe-layered double hydroxide (NiFe-LDH) nanosheets on nickel foam under ambient temperature and pressure is reported. These NiFe-LDH nanosheets are vertically rooted in nickel foam and interdigitated together to form a highly porous array, leading to numerous exposed active sites, reduced resistance of charge/mass transportation and enhanced mechanical stability. As self-supported electrocatalyst, the representative sample (NF@NiFe-LDH-1.5-4) shows an excellent large-current-density catalytic activity for OER in alkaline electrolyte, requiring low overpotentials of 190 and 220 mV to reach the current densities of 100 and 657 mA cm-2 with a Tafel slope of 38.1 mV dec-1 . In addition, NF@NiFe-LDH-1.5-4 as an overall water splitting electrocatalyst can stably achieve a large current density of 200 mA cm-2 over 300 h at a low cell voltage of 1.83 V, meeting the requirement of industrial hydrogen production. This exceedingly simple and ultrafast synthesis of low-cost and highly active large-current-density OER electrocatalysts can propel the commercialization of hydrogen producing technology via water splitting.

17.
Front Genet ; 12: 773009, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34733322

RESUMO

Hearing loss (HL) is one of the most common disabilities in the world. In industrialized countries, HL occurs in 1-2/1,000 newborns, and approximately 60% of HL is caused by genetic factors. Next generation sequencing (NGS) has been widely used to identify many candidate genes and variants in patients with HL, but the data are scattered in multitudinous studies. It is a challenge for scientists, clinicians, and biologists to easily obtain and analyze HL genes and variant data from these studies. Thus, we developed a one-stop database of HL-related genes and variants, Gene4HL (http://www.genemed.tech/gene4hl/), making it easy to catalog, search, browse and analyze the genetic data. Gene4HL integrates the detailed genetic and clinical data of 326 HL-related genes from 1,608 published studies, along with 62 popular genetic data sources to provide comprehensive knowledge of candidate genes and variants associated with HL. Additionally, Gene4HL supports the users to analyze their own genetic engineering network data, performs comprehensive annotation, and prioritizes candidate genes and variations using custom parameters. Thus, Gene4HL can help users explain the function of HL genes and the clinical significance of variants by correlating the genotypes and phenotypes in humans.

18.
Wideochir Inne Tech Maloinwazyjne ; 16(3): 536-542, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34691303

RESUMO

INTRODUCTION: Upper urinary tract calculus is a common disease of the urinary system. AIM: To compare the therapeutic effects of flexible ureteroscopy alone and in combination with external physical vibration on upper urinary tract calculi. MATERIAL AND METHODS: A total of 146 patients were randomly divided into control and experimental groups (n = 73). The control group received flexible ureteroscopy lithotripsy, and the experimental group underwent the same but combined with external physical vibration. The rate of finding stones in the urine on the day after treatment, clearance rate, components of stones, levels of renal function indices blood urea nitrogen (BUN) and serum creatinine (Scr), and incidence of complications were compared. The stone-free rate during 1-year follow-up was analysed by Kaplan-Meier method. RESULTS: The rate of finding stones in the urine on the day after treatment was higher in the experimental group (100%) than that in the control group (29.73%) (p < 0.05). The clearance rates on the day, at 1 week, and at 2 weeks after treatment in the experimental group were 71.23%, 87.67%, and 95.89%, respectively, which surpassed those of the control group at corresponding time points (p < 0.05). BUN and Scr levels decreased after treatment in both groups, especially in the experimental group (p < 0.05). The stone-free rate during 1-year follow-up in the experimental group (n = 71 (97.26%)) exceeded that of the control group (n = 61 (83.56%)) (p < 0.05). CONCLUSIONS: External physical vibration combined with flexible ureteroscopy lithotripsy significantly increased the rate of finding stones in the urine the day after treatment, the clearance rate of upper urinary tract calculi, and the ameliorated renal function and reduced the stone re-formation rate.

19.
Transl Psychiatry ; 11(1): 69, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33479212

RESUMO

Neuropsychiatric disorders, such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), bipolar disorder (BIP), and major depressive disorder (MDD) share common clinical presentations, suggesting etiologic overlap. A substantial proportion of SNP-based heritability for neuropsychiatric disorders is attributable to genetic components, and genome-wide association studies (GWASs) focusing on individual diseases have identified multiple genetic loci shared between these diseases. Here, we aimed at identifying novel genetic loci associated with individual neuropsychiatric diseases and genetic loci shared by neuropsychiatric diseases. We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16299 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD. We further achieved modest replication in our independent pediatric dataset. We conducted fine-mapping and functional annotation through an integrative multi-omics approach and identified causal variants and potential target genes at each novel locus. Gene expression profile and gene-set enrichment analysis further suggested early developmental stage expression pattern and postsynaptic membrane compartment enrichment of candidate genes at the genome-wide significant loci of these neuropsychiatric disorders. Therefore, through a multi-omics approach, we identified novel genetic loci associated with the five neuropsychiatric disorders which may help to better understand the underlying molecular mechanism of neuropsychiatric diseases.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtorno Bipolar , Transtorno Depressivo Maior , Esquizofrenia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Transtorno Bipolar/genética , Criança , Transtorno Depressivo Maior/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Esquizofrenia/genética
20.
Anal Sci ; 37(9): 1227-1234, 2021 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-33455964

RESUMO

In our work, N-doped carbon dots (CDs) were synthesized by a facile hydrothermal method with fermented rice as the carbon source. The CDs show bright blue fluorescence, and the maximum emission wavelength was 380 nm with wavelength ranges from 320 to 560 nm. Interestingly, these as-prepared CDs show strong blue photoluminescent properties under the radiation with ultraviolet (UV) light. Moreover, it also exhibits good sensitive fluorescence detection for Fe3+ ions; the detection limit is 0.1 µM, which is significant fluorescence quenching based on CDs. Other representative metal ions were further tested to verify their selectivity, which provides a solid underpinning for the practical use in Fe3+ ions detection in real samples, e.g. underground water. In addition, the CDs work well as a fluorescent ink and can encrypt and store information.

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