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1.
Eye Vis (Lond) ; 9(1): 16, 2022 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-35505390

RESUMO

BACKGROUND: To evaluate whether the specific choroidal neovascularization (CNV) characteristics measured using optical coherence tomography angiography (OCTA) can predict the 6-month prognosis of neovascular age-related macular degeneration (nAMD) after anti-vascular endothelial growth factor (anti-VEGF) therapy. METHODS: Patients with type 1, type 2, or mixed-type neovascularization (NV) were prospectively included. Participants underwent an initial loading phase of three consecutive monthly intravitreal injections of Conbercept (0.5 mg) and were switched to a pro re nata (PRN) treatment strategy. OCTA images were evaluated for eyes that underwent follow-up assessments for more than 6 months. CNV lesions were manually segmented, and the CNV area, vessel area, greatest vascular caliber (GVC), and greatest linear dimension (GLD) were compared between responders and non-responders. Two masked graders independently measured the above-mentioned parameters using OCTA, and consistency was assessed using the intraclass correlation coefficient (ICC) values. Multiple logistic regression analysis was performed to evaluate the effect of a 3-month change in the CNV area, GLD, and GVC on the 6-month response to anti-VEGF agents. RESULTS: Among the 60 eyes of 60 patients with nAMD, 39 were responders and 21 were non-responders. The proportion of CNV types was significantly different between responders and non-responders (P = 0.009). Patients with type 2 or mixed NV seemed more likely to respond to the treatment (28.2% vs. 0.0%, and 30.8% vs. 23.8%, respectively). The change in GVC showed a significant difference between responders (- 4.98 ± 17.17 µm) and non-responders (11.01 ± 14.10 µm) after three monthly intravitreal anti-VEGF injections. Multiple logistic regression analysis showed that only the change in GVC remained significant after controlling for baseline GVC, injection number, and CNV type (adjusted OR = 1.083; P = 0.008). CONCLUSIONS: Type 2 and mixed-type NV were significantly associated with a better response to anti-VEGF therapy. Changes in GVC after 3 months of treatment were significantly associated with a response to anti-VEGF therapy at 6 months.

2.
Artigo em Inglês | MEDLINE | ID: mdl-35535154

RESUMO

Background: Pulmonary artery hypertension (PAH) is a rare, life-limiting cardiopulmonary disorder characterized by the progressive and remodeling of pulmonary vasculature. Although the development of the technology brings us many approaches for the treatment of PAH, the effect of treatment is unsatisfactory. Tripterygium wilfordii (TW), as a traditional Chinese medicine (TCM), has been widely used in anti-inflammation, anticancer, and other fields. However, the potential of TW in treating PAH is currently unclear. Methods: Active ingredients and their corresponding genes were harvested from the Traditional Chinese Medicine Database and Analysis Platform (TCMSP), CTD, and STITCH. Meanwhile, genes associated with PAH were adopted from OMIM and GeneCards databases. Through Gene Ontology (GO) and Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathway enrichment analyses, potential targeting KEGG pathways and functions were further collected. Then, STRING was used to generate the protein-protein interaction (PPI) network. The "ingredients-targets-pathway" network was built by Cystoscope. Finally, the binding between active ingredients of TW and corresponding targets of PAH was identified via molecular docking technology and surface plasmon resonance (SPR) experiments. Results: The network pharmacology analysis revealed 36 active ingredients in TW and 150 potential targets related to the treatment of PAH with TW. Moreover, GO enrichment analysis showed that the key function in molecular function (MF) was related to enzyme binding, the key function in biological process (BP) was related to cellular response to organic substance, and the key function in cellular component (CC) was related to KEGG enrichment analysis and found that it was closely related to the IL-17 signaling pathway, TNF signaling pathway, Toll-like receptor signaling pathway, and apoptosis. At last, molecular docking results revealed that the main active ingredients of TW had a strong binding ability with the PAH target protein. In addition, the SPR experiment revealed that kaempferol was combined with the CASP3 protein rather than PARP1, while triptolide was combined with PARP1 rather than the CASP3 protein. Conclusion: TW may have therapeutic effects on PAH through multitargets and multimethods, which provide a scientific basis for further elaborating the mechanism of Tripterygium wilfordii in the treatment of PAH.

3.
Transl Vis Sci Technol ; 11(5): 9, 2022 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-35536719

RESUMO

Purpose: Uveal melanoma (UM) is the most common primary malignant tumor with poor prognosis. The role of metabolism-related genes in the prognosis of UM remains unrevealed. This study aimed to establish and validate a prognostic prediction model for UM based on metabolism-related genes. Methods: Gene expression profiles and clinicopathological information were downloaded from The Cancer Genome Atlas, and the Gene Expression Omnibus database. Univariable Cox regression, least absolute shrinkage and selection operator Cox regression, and stepwise regression were performed to establish the model. Kaplan-Meier survival analysis, receiver operating characteristic (ROC) curve analysis, and calibration and discrimination analyses were used to evaluate the prognostic model. Results: Three metabolism-related genes, carbonic anhydrase 12, acyl-CoA synthetase long-chain family member 3, and synaptojanin 2, and three clinicopathological parameters (i.e., age, gender, and metastasis staging) were identified to establish the model. The risk score was found to be an independent prognostic factor for UM survival. High-risk patients demonstrated significantly poorer prognosis than low-risk patients. ROC analysis suggested the promising prognostic efficiency of the model. The calibration curve manifested satisfactory agreement between the predicted and observed risk. A nomogram and online survival calculator were developed to predict the survival probability. Conclusions: The novel metabolism-based prognostic model could accurately predict the prognosis of UM patients, which facilitates the prediction of the survival probability by both ophthalmologists and patients with the online dynamic nomogram. Translational Relevance: The dynamic nomogram links gene expression profiles to clinical prognosis of UM and is useful to evaluate the survival probability.

4.
Parasitol Int ; : 102597, 2022 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-35533962

RESUMO

BACKGROUND: The continuous monitoring of malaria transmission intensity is still required to maintain elimination status after reaching the malaria elimination stage. In this study, serological surveillance with multiepitope artificial antigen was used to assess the transmission of Plasmodium falciparum in Yunnan, China, where malaria elimination has just been achieved, to provide data to support malaria control in the postelimination period. METHODS: Samples were collected in three border counties and one inland county in Yunnan Province in 2016 using a stratified whole-group sampling method. Fingerstick blood was collected from all participants, and antibodies to Malaria Random Constructed Antigen-1 (M. RCAg-1) were detected by indirect ELISA. The transmission intensity of P. falciparum malaria was estimated using a catalytic conversion model based on the maximum likelihood of generating a community seroconversion rate (SCR). RESULTS: A total of 5566 samples were collected. There was no statistically significant difference in antibody level between the inland county and the nonendemic area, but the antibody level in border counties was significantly higher than those in the inland county and the nonendemic control area. No seropositive cases were found in Yanjin County, and the seropositivity rate increased with age in the three border counties. The highest intensity of P. falciparum malaria transmission was in Zhenkang County (SCR = 0.0030, CI: 0.0029, 0.0031), followed by Gengma County (SCR = 0.0013, CI: 0.0012, 0.0015) and Yingjiang County (SCR = 0.00088, CI: 0.00083, 0.00090). CONCLUSION: The transmission intensity of P. falciparum malaria in Yunnan Province has obviously decreased in recent years, but for the border areas where malaria has just been eliminated, the transmission intensity will not immediately drop to zero, and it still needs to be monitored for a period of time to maintain malaria elimination status.

5.
Front Immunol ; 13: 847937, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35392087

RESUMO

Retinal degenerative diseases are a leading cause of vision loss and blindness throughout the world, characterized by chronic and progressive loss of neurons and/or myelin. One of the common features of retinal degenerative diseases and central neurodegenerative diseases is chronic neuroinflammation. Interleukin-17A (IL-17A) is the cytokine most closely related to disease in its family. Accumulating evidence suggests that IL-17A plays a key role in human retinal degenerative diseases, including age-related macular degeneration, diabetic retinopathy and glaucoma. This review aims to provide an overview of the role of IL-17A participating in the pathogenesis of retinal degenerative diseases, which may open new avenues for potential therapeutic interventions.


Assuntos
Retinopatia Diabética , Interleucina-17 , Degeneração Macular , Degeneração Retiniana , Retinopatia Diabética/patologia , Humanos , Interleucina-17/fisiologia , Retina/patologia
6.
Artigo em Inglês | MEDLINE | ID: mdl-35471594

RESUMO

When it comes to using solar energy to promote catalytic reactions, photocatalysis technology will be first thought. However, the sunlight can not only be directly converted to chemical energy through photocatalytic process, but can also be converted through different energy transfer pathways. Using sunlight as the energy source, photocatalytic reaction can proceed independently, and can also be coupled with other catalytic technologies to enhance overall catalytic efficiency. Therefore, sun light driven catalytic reactions are diversified, and need to be given a specific definition. We propose a timely perspective for the catalytic reactions driven by sunlight and give them a specific definition, namely Solar Energy Catalysis. The concept of different types of solar energy catalysis, such as photocatalysis, photothermal catalysis, solar cell powered electrocatalysis and pyroelectric catalysis, are highlighted. Finally, their limitations and future research direction are discussed.

7.
Biochem Pharmacol ; 199: 115029, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35381210

RESUMO

Chloroethylnitrosoureas (CENUs) exert antitumor activity via producing dG-dC interstrand crosslinks (ICLs). However, tumor resistance make it necessary to find novel strategies to improve the therapeutic effect of CENUs. 2-Deoxy-D-glucose (2-DG) is a well-known glycolytic inhibitor, which can reprogram tumor energy metabolism closely related to tumor resistance. Here, we investigated the chemosensitization effect of 2-DG on l,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) against glioblastoma cells and the underlying mechanisms. We found that 2-DG significantly increased the inhibitory effects of BCNU on tumor cells compared with BCNU alone, while 2-DG showed no obvious enhancing effect on the BCNU-induced cytotoxicity for normal HaCaT and HA1800 cells. Proliferation, migration and invasion determinations presented the same trend as survival on tumor cells. 2-DG plus BCNU increased the energy deficiency through a more effective inhibition of glycolytic pathway. Notably, the combination of 2-DG and BCNU aggravated oxidative stress in glioblastoma cells, along with a significant decrease in glutathione (GSH) levels, and an increase in intracellular reactive oxygen species (ROS). Subsequently, we demonstrated that the combination treatment led to increased apoptosis via activating mitochondria and endoplasmic reticulum stress (ERS) related apoptosis pathways. Finally, we found that the dG-dC level was significantly increased after 2-DG pretreatment compared to BCNU alone by HPLC-ESI-MS/MS analysis. Finally, in vivo, 2-DG plus BCNU significantly suppressed tumor growth with lower side effects compared with BCNU alone in tumor-bearing mice. In summary, we proposed that 2-DG may have potential to increase the sensitivity of glioblastoma cells to BCNU by regulating glycolysis, ROS and ERS pathways in clinical setting.


Assuntos
Carmustina , Glioblastoma , Animais , Carmustina/farmacologia , Desoxiglucose/farmacologia , Estresse do Retículo Endoplasmático , Glioblastoma/tratamento farmacológico , Glucose , Glutationa/metabolismo , Glicólise , Camundongos , Espécies Reativas de Oxigênio , Espectrometria de Massas em Tandem
8.
J Community Psychol ; 2022 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-35390183

RESUMO

Using a school-based intervention, Let's Be Friends (LBF), designed to promote the social information-processing (SIP) skills of third-grade children in rural China, the specific aim of this study was to assess the moderating effects of school characteristics on program outcomes. We systematically tested the moderating effects of six school-resource variables (i.e., student-teacher ratio, school size, number of library books per student, number of computers per 100 students, percentage of teachers with middle- and high-level titles, and percentage of teachers with high-level title or "backbone" recognition) on outcomes in a controlled trial of LBF program. School resources (i.e., small school size, low student-teacher ratio, and more teachers with high-level title or backbone) were associated with SIP skill acquisition, reduced aggressive behavior, and higher cognitive concentration. School contextual characteristics condition the impact of social-emotional education programs in Chinese rural primary schools.

9.
BMJ Open ; 12(4): e055563, 2022 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-35477885

RESUMO

OBJECTIVES: To explore the longitudinal association between visual impairment (VI) and depression among adults 45 years and older in China based on a nationally representative follow-up dataset. SETTING: Participants in China from the China Health and Retirement Longitudinal Study were included. PARTICIPANTS: A total of 6748 participants from two waves of the China Health and Retirement Longitudinal Study 2011-2018 were included for analysis by age group. PRIMARY AND SECONDARY OUTCOME MEASURES: VI and depression were defined by self-diagnosis and the Center for Epidemiological Studies Depression Scale-10, respectively. Lagged dependent variable regression models with ordinary least squares estimation were used to evaluate the association between VI and depression. Age was divided into three groups, that is, 45-54, 55-64, and 65 years and older, to explore the relationship between VI and depression in different age groups. RESULTS: In our study sample, VI remarkably predicted an increase in depressive scores. The magnitude of depressive scores increased among those with VI points greater than 3.517 (ß=3.517; 95% CI=2.697 to 4.331) points than those without VI in the 7-year follow-up. Significant relationships were also found between VI and depression in the three age groups in the sensitivity analysis. CONCLUSION: VI was associated with an increase in depression scores over a 7-year period. Female respondents, low educational attainment and high alcohol intake significantly predicted an increase in depressive status.


Assuntos
Depressão , Baixa Visão , China/epidemiologia , Depressão/epidemiologia , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade
10.
J Chromatogr Sci ; 2022 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-35397163

RESUMO

How to improve the enantiomer separation efficiency of drugs is a hot topic. In this paper, polydopamine (PDA) coating doped with graphene oxide (GO) by physical adsorption was used to modify the capillary column to enhance the enantioseparation efficiency of the drugs. In the capillary electrochromatography (CEC) system, the novel capillary column with carboxymethyl-ß-cyclodextrin (CM-ß-CD) as a chiral selector has completed the enantioseparation of four basic drugs (propranolol, metoprolol, amlodipine and chlorpheniramine). The optimum separation conditions were obtained by optimizing the pH of the buffer, the concentration of organic modifier, the concentration of the chiral selector and the voltage, and the resolution and peak shape were significantly improved compared with uncoated bare-fused column. The stability and reproducibility of the new capillary column were satisfactory and the relative standard deviation of intra-day and inter-day was <3.2%, and of column-to-column was <4.8%. The rich functional groups of GO are key factors to improve the enantioseparation efficiency, which also indicates that nanomaterials with easy modification of functional groups and large specific surface area are excellent resources for capillary modification applications.

11.
Cells ; 11(7)2022 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-35406631

RESUMO

Non-alcoholic fatty liver disease (NAFLD) held a high global prevalence in recent decades. Hepatic lipid deposition is the major characteristic of NAFLD. We aim to explore the mechanisms of psoralen on lipid deposition in NAFLD. The effects of psoralen on insulin resistance, lipid deposition, the expression and membrane translocation of glucose transporter type 4 (GLUT4), autophagy, and lipogenesis enzymes were determined on sodium oleate-induced L02 cells. Chloroquine and 3-MA were employed. The AMP-activated protein kinase alpha (AMPKα) was knocked down by siRNA. Psoralen alleviated insulin resistance in sodium oleate-induced L02 hepatocytes by upregulating the expression and membrane translocation of GLUT4. Psoralen inhibited lipid accumulation by decreasing the expression of key lipogenesis enzymes. Psoralen promotes autophagy and the autophagic flux to enhance lipolysis. Psoralen promoted the fusion of the autophagosome with the lysosome. Both chloroquine and 3-MA blocked the effects of psoralen on autophagy and lipid accumulation. The AMPKα deficiency attenuated the effects of psoralen on autophagy and lipid accumulation. Our study demonstrated that as an antioxidant, psoralen attenuates NAFLD by alleviating insulin resistance and promoting autophagy via AMPK, suggesting psoralen to be a promising candidate for NAFLD.


Assuntos
Resistência à Insulina , Hepatopatia Gordurosa não Alcoólica , Proteínas Quinases Ativadas por AMP/metabolismo , Autofagia , Cloroquina/farmacologia , Ficusina/farmacologia , Humanos , Metabolismo dos Lipídeos , Hepatopatia Gordurosa não Alcoólica/metabolismo , Ácido Oleico/farmacologia
12.
J Thorac Dis ; 14(3): 749-768, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35399246

RESUMO

Respiratory tract infections are infectious diseases involving the respiratory tract (such as the sinuses, throat, airways or lungs), which are the common respiratory disorders in children. With the development of society and the improvement of economic conditions, great progress has been made in China in the prevention of common respiratory pathogens in children. As a result, the incidence and mortality of respiratory tract infections in children have dropped sharply in the past decades. However, there is still a certain gap compared with the international leading levels, which can be partly attribute to insufficient public awareness of vaccination, uneven vaccination services of vaccinators, and so on. On the basis of comprehensive analysis of the clinical evidence of immunoprophylaxis of common respiratory pathogens among children in China and abroad, combined with the clinical situation and the experience of experts, the consensus focuses on the characteristics of transmission, clinical manifestations and immunoprophylaxis of common respiratory pathogens in children, so as to provide reference for clinical practice. This consensus document applies to all Centers for Disease Control and Prevention (CDC) staff levels engaged in the prevention and control of related pathogens, vaccinators at vaccination sites, and medical staff in pediatric, respiratory, and infectious diseases departments at all levels in medical institutions.

13.
Small Methods ; 6(5): e2200264, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35388987

RESUMO

Glaucoma is a common optic neuropathy disease affecting over 76 million people. Both timely diagnosis and progression monitoring are critical but challenging. Conventional characterization of glaucoma needs a combination of methods, calling for tedious procedures and experienced doctors. Herein, a platform through machine learning of tear metabolic fingerprinting (TMF) using nanoparticle enhanced laser desorption-ionization mass spectrometry is built. Direct TMF is obtained noninvasively, with fast speed and high reproducibility, using trace tear samples (down to 10 nL). Consequently, glaucoma patients are screened against healthy controls with the area under the curve (AUC) of 0.866, through machine learning of TMF. Further, primary open-angle glaucoma (POAG) is differentiated from primary angle-closure glaucoma (PACG) and an early-stage POAG is identified. Finally, a biomarker panel of six metabolites for glaucoma characterization (including screening, subtyping, and early diagnosis) with AUC of 0.827-0.891 is constructed, showing related metabolic pathways. The work will provide insights into eye diseases not limited to glaucoma.

14.
Environ Sci Technol ; 56(7): 4071-4079, 2022 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-35290020

RESUMO

Although the biological effects of nanoplastics (<100 nm in size) in aquatic environments have been increasingly investigated, almost all such studies have been performed at observed-effect concentrations (higher than 1 µg/mL). The use of observed-effect concentrations of nanoplastics can provide essential data for evaluating the potential risks, but how these results apply to the effects of concentrations of nanoplastics observed in the environment remains unclear. Here, we show that exposure to both positively and negatively charged nanoplastics at the observed-effect concentration (ranging from 0 to 50 µg/mL) can result in physiological changes of Lemna minor L., a typical flowering aquatic plant species, inducing H2O2 and O2- accumulation and even cell death. However, the nanoplastics at environmentally relevant concentrations (lower than 0.1 µg/mL) had no obvious effects on phenotype of L. minor. Moreover, nanoplastics at both observed-effect and environmentally relevant concentrations were adsorbed onto the roots and fronds of the plants, whereas uptake by the roots and fronds occurred only at the observed-effect concentration. Although no phenotypic changes across 30 generations of cultivation were observed when the plants were exposed to 0.015 µg/mL nanoplastics, the expression of genes related to the response to stimuli and to oxidative and osmotic stress was upregulated under both observed-effect and environmentally relevant concentrations. Our findings suggest that the long-term presence of nanoplastics at environmentally relevant concentrations might induce some variations in the transcription level and have potential threat to floating microphytes and aquatic ecosystems.


Assuntos
Araceae , Poluentes Químicos da Água , Araceae/metabolismo , Ecossistema , Peróxido de Hidrogênio , Microplásticos/toxicidade , Poliestirenos , Poluentes Químicos da Água/metabolismo
15.
Nat Commun ; 13(1): 1669, 2022 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-35351879

RESUMO

Prime editor (PE), which is developed by combining Cas9 nickase and an engineered reverse transcriptase, can mediate all twelve types of base substitutions and small insertions or deletions in living cells but its efficiency remains low. Here, we develop spegRNA by introducing same-sense mutations at proper positions in the reverse-transcription template of pegRNA to increase PE's base-editing efficiency up-to 4,976-fold (on-average 353-fold). We also develop apegRNA by altering the pegRNA secondary structure to increase PE's indel-editing efficiency up-to 10.6-fold (on-average 2.77-fold). The spegRNA and apegRNA can be combined to further enhance editing efficiency. When spegRNA and apegRNA are used in PE3 and PE5 systems, the efficiencies of sPE3, aPE3, sPE5 and aPE5 systems are all enhanced significantly. The strategies developed in this study realize highly efficient prime editing at certain previously uneditable sites.


Assuntos
Sistemas CRISPR-Cas , Edição de Genes , Sistemas CRISPR-Cas/genética , Mutação INDEL , Mutação , DNA Polimerase Dirigida por RNA/genética
16.
Infect Dis Poverty ; 11(1): 25, 2022 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-35255983

RESUMO

BACKGROUND: Infectious disease diagnostics often requires sensitive molecular assays that identify at both genus and species levels. For large scale screening, such as malaria screening for elimination, diagnostic assay can be a challenge, as both the throughput and cost of the assay must be considered. The requirement of nucleic acid extraction hampers the throughput of most molecular assays. Co-amplification of multiple species or multiplex identification either can result in missed diagnosis or are too costly for large-scale screening. A genus- and species-specific diagnostic assay with simplified procedure, high sensitivity and throughput is still needed. This study aimed to develop a sensitive and high-throughput approach for large-scale infectious disease screening. METHODS: We developed multi-section Capture and Ligation Probe PCR (mCLIP-PCR) for the direct detection of RNA without extraction and reverse transcription. Multiple tailed sandwich hybridization probes were used to bind at genus- and species-specific sections of the target RNA to cooperatively capture the target onto a 96-well plate. After enzymatic ligation of the bound probes, a single-stranded DNA formed at each section with distinct tail sequence at the ends. They were separately PCR-amplified with primers corresponding to tail sequences for genus or species identification. We applied the method to the active screening of Plasmodium infections of 4,580 asymptomatic dried blood spot samples collected in malaria endemic areas and compared the results with standard qPCR using linear regression. RESULTS: With multi-section cooperative capture but separate amplification strategy, we accurately identified genus Plasmodium and species P. falciparum and P. vivax without RNA extraction, with favorable sensitivities among the published reports. In the active screening, our method identified all 53 positive infections including two mixed infections, and two P. vivax infections that were missed by standard qPCR. CONCLUSIONS: mCLIP-PCR provides a sensitive and high-throughput approach to large-scale infectious disease screening with low cost and labor, making it a valuable tool for malaria elimination in endemic region.


Assuntos
Malária Vivax , Malária , Plasmodium , DNA de Protozoário/genética , Humanos , Malária/diagnóstico , Malária Vivax/diagnóstico , Plasmodium/genética , Plasmodium falciparum/genética , RNA Ribossômico 18S/genética , Reação em Cadeia da Polimerase em Tempo Real , Sensibilidade e Especificidade
17.
World J Clin Cases ; 10(6): 1909-1913, 2022 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-35317157

RESUMO

BACKGROUND: Maturity-onset diabetes of the young 3 (MODY3), caused by mutations in the HNF1A gene, is the most common subtype of MODY. The diagnosis of MODY3 is critical because a low dose of sulfonylurea agents can achieve glucose control. CASE SUMMARY: We describe a patient with MODY3 involving a novel splicing mutation, in whom low-dose gliclazide was sufficient to control clinically significant hyperglycemia. Sanger sequencing identified a splicing HNF1A mutation in 12q24 NM_000545.5 Intron5 c.1108-1G>A. Glycemic control has been maintained without insulin therapy for 28 mo after the diagnosis of diabetes. CONCLUSION: This case report highlights a novel HNF1A gene mutation in MODY3 that is responsive to sulfonylurea therapy.

19.
Malar J ; 21(1): 69, 2022 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-35241079

RESUMO

BACKGROUND: To understand the Plasmodium vivax malaria transmission intensity and to assess the effectiveness of prevention and control measures taken along the China-Myanmar border, a catalytic model was used to calculate the seroconversion rate, an important indicator of malaria transmission intensity with high sensitivity, which is particularly useful in areas of low transmission. METHODS: Five counties in Yunnan Province bordering Myanmar were selected as survey sites, and subjects were obtained in each county by stratified random sampling in 2013-2014. Fingerstick blood was collected from each subject and tested for antibodies to P. vivax Merozoite Surface Protein 1-19 (PvMSP1-19) using indirect ELISA. A catalytic conversion model was used to assess the transmission intensity of P. vivax malaria based on the maximum likelihood of generating a community seroconversion rate. RESULTS: A total of 3064 valid blood samples were collected. Antibody levels were positively correlated with age. The seroconversion rate (SCR) values for each village were Luoping (0.0054), Jingqiao (0.0061), Longpen (0.0087), Eluo (0.0079), Banwang (0.0042) and Banbie (0.0046), respectively. CONCLUSION: Overall, the intensity of P. vivax malaria transmission in the border areas of Yunnan Province is low and not entirely consistent across counties. Consecutive serological surveys are needed to provide a sensitive evaluation of transmission dynamics and can help to confirm areas where infection is no longer present.


Assuntos
Malária Vivax , Plasmodium vivax , China/epidemiologia , Humanos , Malária Vivax/epidemiologia , Proteína 1 de Superfície de Merozoito , Mianmar/epidemiologia , Plasmodium falciparum
20.
Dis Model Mech ; 15(3)2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-35230417

RESUMO

Bietti crystalline dystrophy (BCD) is an autosomal recessive inherited retinal disease, resulting in blindness in most patients. The etiology and development mechanism of it remain unclear. Given the defects in previous mouse models of BCD, we generated a new Cyp4v3-/- mouse model, using CRISPR/Cas9 technology, for investigating the pathogenesis of BCD. We estimated the ocular phenotypes by fundus imaging, optical coherence tomography (OCT) and full-field scotopic electroretinography, and investigated the histological features by Hematoxylin and Eosin staining, Oil Red O staining and immunofluorescence. This model effectively exhibited age-related progression that mimicked the human ocular phenotypes. Moreover, gas chromatography-mass spectrometry and RNA-seq analysis indicated that the defect of Cyp4v3 led to the abnormal lipid metabolism, inflammation activation and oxidative stress of retina. Notably, inflammation activation and oxidative stress could also promote the progression of BCD in light-induced retinal degeneration. In conclusion, our data provided evidence that we established a novel and more effective Cyp4v3 knockout preclinical mouse model for BCD, which served as a useful tool for evaluating the effect of drugs and gene therapy in vivo.


Assuntos
Distrofias Hereditárias da Córnea , Degeneração Retiniana , Animais , Distrofias Hereditárias da Córnea/genética , Modelos Animais de Doenças , Humanos , Camundongos , Mutação , Doenças Retinianas , Tomografia de Coerência Óptica
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