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1.
Nucleic Acids Res ; 52(D1): D1538-D1547, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-37986220

RESUMO

Plant Reactome (https://plantreactome.gramene.org) is a freely accessible, comprehensive plant pathway knowledgebase. It provides curated reference pathways from rice (Oryza sativa) and gene-orthology-based pathway projections to 129 additional species, spanning single-cell photoautotrophs, non-vascular plants, and higher plants, thus encompassing a wide-ranging taxonomic diversity. Currently, Plant Reactome houses a collection of 339 reference pathways, covering metabolic and transport pathways, hormone signaling, genetic regulations of developmental processes, and intricate transcriptional networks that orchestrate a plant's response to abiotic and biotic stimuli. Beyond being a mere repository, Plant Reactome serves as a dynamic data discovery platform. Users can analyze and visualize omics data, such as gene expression, gene-gene interaction, proteome, and metabolome data, all within the rich context of plant pathways. Plant Reactome is dedicated to fostering data interoperability, upholding global data standards, and embracing the tenets of the Findable, Accessible, Interoperable and Re-usable (FAIR) data policy.


Assuntos
Bases de Conhecimento , Redes e Vias Metabólicas , Multiômica , Plantas , Redes e Vias Metabólicas/genética , Plantas/genética , Plantas/metabolismo , Transdução de Sinais/genética , Internet , Bases de Dados de Proteínas
2.
J Cell Sci ; 136(16)2023 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-37589342

RESUMO

Cellular quiescence is a dormant, non-dividing cell state characterized by significant shifts in physiology and metabolism. Quiescence plays essential roles in a wide variety of biological processes, ranging from microbial sporulation to human reproduction and wound repair. Moreover, when the regulation of quiescence is disrupted, it can drive cancer growth and compromise tissue regeneration after injury. In this Review, we examine the dynamic changes in metabolism that drive and support dormant and transiently quiescent cells, including spores, oocytes and adult stem cells. We begin by defining quiescent cells and discussing their roles in key biological processes. We then examine metabolic factors that influence cellular quiescence in both healthy and disease contexts, and how these could be leveraged in the treatment of cancer.


Assuntos
Oócitos , Cicatrização , Adulto , Humanos , Divisão Celular
3.
Nitric Oxide ; 144: 40-46, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38316197

RESUMO

Nitric oxide (NO), a vasodilator contributes to the vaso-occlusive crisis associated with the sickle cell disease (SCD). Vascular nitric oxide helps in vasodilation, controlled platelet aggregation, and preventing adhesion of sickled red blood cells to the endothelium. It decreases the expression of pro-inflammatory genes responsible for atherogenesis associated with SCD. Haemolysis and activated endothelium in SCD patients reduce the bioavailability of NO which promotes the severity of sickle cell disease mainly causes vaso-occlusive crises. Additionally, NO depletion can also contribute to the formation of thrombus, which can cause serious complications such as stroke, pulmonary embolism etc. Understanding the multifaceted role of NO provides valuable insights into its therapeutic potential for managing SCD and preventing associated complications. Various clinical trials and studies suggested the importance of artificially induced nitric oxide and its supplements in the reduction of severity. Further research on the mechanisms of NO depletion in SCD is needed to develop more effective treatment strategies and improve the management of this debilitating disease.


Assuntos
Anemia Falciforme , Óxido Nítrico , Humanos , Óxido Nítrico/uso terapêutico , Vasodilatação , Vasodilatadores/uso terapêutico
4.
Mol Biol Rep ; 51(1): 391, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38446253

RESUMO

BACKGROUND: Corneal disease is a major cause of blindness. Transplantation of cadaver-derived corneas (keratoplasty) is still the current therapy of choice; however, the global shortage of donor corneas continues to drive a search for alternatives. To this end, biosynthetic corneal substitutes have recently begun to gain importance. Here, we present a novel method for the generation of a cornea-like tissue (CLT), using corneo-scleral rims discarded after keratoplasty. METHODS AND RESULTS: Type I collagen was polymerized within the corneo-scleral rim, which functioned as a 'host' mould, directing the 'guest' collagen to polymerize into disc-shaped cornea-like material (CLM), displaying the shape, curvature, thickness, and transparency of normal cornea. This polymerization of collagen appears to derive from some morphogenetic influence exerted by the corneo-scleral rim. Once the CLM had formed naturally, we used collagen crosslinking to fortify it, and then introduced cells to generate a stratified epithelial layer to create cornea-like tissue (CLT) displaying characteristics of native cornea. Through the excision and reuse of rims, each rim turned out to be useful for the generation of multiple cornea-shaped CLTs. CONCLUSIONS: The approach effectively helps to shorten the gap between demand and supply of CLMs/CLTs for transplantation. We are exploring the surgical transplantation of this CLT into animal eyes, as keratoprostheses, as a precursor to future applications involving human eyes. It is possible to use either the CLM or CLT, for patients with varying corneal blinding diseases.


Assuntos
Colágeno Tipo I , Córnea , Animais , Humanos , Morfogênese , Polimerização
5.
Nucleic Acids Res ; 50(D1): D996-D1003, 2022 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-34791415

RESUMO

Ensembl Genomes (https://www.ensemblgenomes.org) provides access to non-vertebrate genomes and analysis complementing vertebrate resources developed by the Ensembl project (https://www.ensembl.org). The two resources collectively present genome annotation through a consistent set of interfaces spanning the tree of life presenting genome sequence, annotation, variation, transcriptomic data and comparative analysis. Here, we present our largest increase in plant, metazoan and fungal genomes since the project's inception creating one of the world's most comprehensive genomic resources and describe our efforts to reduce genome redundancy in our Bacteria portal. We detail our new efforts in gene annotation, our emerging support for pangenome analysis, our efforts to accelerate data dissemination through the Ensembl Rapid Release resource and our new AlphaFold visualization. Finally, we present details of our future plans including updates on our integration with Ensembl, and how we plan to improve our support for the microbial research community. Software and data are made available without restriction via our website, online tools platform and programmatic interfaces (available under an Apache 2.0 license). Data updates are synchronised with Ensembl's release cycle.


Assuntos
Bases de Dados Genéticas , Genômica , Internet , Software , Animais , Biologia Computacional , Genoma Bacteriano/genética , Genoma Fúngico/genética , Genoma de Planta/genética , Plantas/classificação , Plantas/genética , Vertebrados/classificação , Vertebrados/genética
6.
Emerg Infect Dis ; 29(11): 2406-2408, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37877682

RESUMO

Scedosporium aurianticum infection developed in 2 recipients of kidney transplants in India, acquired from the same deceased near-drowning donor. Given the substantial risk for death associated with Scedosporium infection among solid-organ transplant recipients, safety protocols for organ transplantation from nearly drowned donors should be thoroughly revaluated and refined.


Assuntos
Transplante de Rim , Afogamento Iminente , Transplante de Órgãos , Humanos , Transplante de Rim/efeitos adversos , Doadores de Tecidos
7.
Basic Res Cardiol ; 118(1): 25, 2023 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-37378715

RESUMO

RNA-protein interactions are central to cardiac function, but how activity of individual RNA-binding protein is regulated through signaling cascades in cardiomyocytes during heart failure development is largely unknown. The mechanistic target of rapamycin kinase is a central signaling hub that controls mRNA translation in cardiomyocytes; however, a direct link between mTOR signaling and RNA-binding proteins in the heart has not been established. Integrative transcriptome and translatome analysis revealed mTOR dependent translational upregulation of the RNA binding protein Ybx1 during early pathological remodeling independent of mRNA levels. Ybx1 is necessary for pathological cardiomyocyte growth by regulating protein synthesis. To identify the molecular mechanisms how Ybx1 regulates cellular growth and protein synthesis, we identified mRNAs bound to Ybx1. We discovered that eucaryotic elongation factor 2 (Eef2) mRNA is bound to Ybx1, and its translation is upregulated during cardiac hypertrophy dependent on Ybx1 expression. Eef2 itself is sufficient to drive pathological growth by increasing global protein translation. Finally, Ybx1 depletion in vivo preserved heart function during pathological cardiac hypertrophy. Thus, activation of mTORC1 links pathological signaling cascades to altered gene expression regulation by activation of Ybx1 which in turn promotes translation through increased expression of Eef2.


Assuntos
Insuficiência Cardíaca , Serina-Treonina Quinases TOR , Cardiomegalia/metabolismo , Insuficiência Cardíaca/metabolismo , Miócitos Cardíacos/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transdução de Sinais/fisiologia , Serina-Treonina Quinases TOR/metabolismo , Animais , Camundongos , Ratos
8.
Nucleic Acids Res ; 49(D1): D1452-D1463, 2021 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-33170273

RESUMO

Gramene (http://www.gramene.org), a knowledgebase founded on comparative functional analyses of genomic and pathway data for model plants and major crops, supports agricultural researchers worldwide. The resource is committed to open access and reproducible science based on the FAIR data principles. Since the last NAR update, we made nine releases; doubled the genome portal's content; expanded curated genes, pathways and expression sets; and implemented the Domain Informational Vocabulary Extraction (DIVE) algorithm for extracting gene function information from publications. The current release, #63 (October 2020), hosts 93 reference genomes-over 3.9 million genes in 122 947 families with orthologous and paralogous classifications. Plant Reactome portrays pathway networks using a combination of manual biocuration in rice (320 reference pathways) and orthology-based projections to 106 species. The Reactome platform facilitates comparison between reference and projected pathways, gene expression analyses and overlays of gene-gene interactions. Gramene integrates ontology-based protein structure-function annotation; information on genetic, epigenetic, expression, and phenotypic diversity; and gene functional annotations extracted from plant-focused journals using DIVE. We train plant researchers in biocuration of genes and pathways; host curated maize gene structures as tracks in the maize genome browser; and integrate curated rice genes and pathways in the Plant Reactome.


Assuntos
Bases de Dados Genéticas , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Genômica/métodos , Proteínas de Plantas/genética , Plantas/genética , Produtos Agrícolas , Elementos de DNA Transponíveis , Duplicação Gênica , Ontologia Genética , Redes Reguladoras de Genes , Internet , Bases de Conhecimento , Redes e Vias Metabólicas , Anotação de Sequência Molecular , Oryza/genética , Oryza/metabolismo , Proteínas de Plantas/metabolismo , Plantas/classificação , Plantas/metabolismo , Poliploidia , Mapeamento de Interação de Proteínas , Software , Zea mays/genética , Zea mays/metabolismo
9.
Indian J Clin Biochem ; 38(3): 351-360, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37234186

RESUMO

Human oral squamous cell carcinoma is the sixth most frequent malignant cancer, with an unacceptably high death rate that affects people's health. Albeit, there are several clinical approaches for diagnosing and treating oral cancer they are still far from ideal. We previously synthesised and characterised the docetaxel nanoformulation (PLGA-Dtx) and discovered that docetaxel nanoencapsulation may suppress oral cancer cells. The goal of this study was to figure out the mechanism involved in the suppression of oral cancer cell proliferation. We discovered that PLGA-Dtx inhibited SCC-9 cell growth considerably as compared to free docetaxel (Dtx), and that the viability of SCC-9 cells treated with PLGA-Dtx was decreased dose-dependently. MTT assay showed that PLGA-Dtx selectively inhibited the growth of PBMCs from oral cancer patients while sparing PBMCs from normal healthy controls. Further, flow cytometry analysis showed that PLGA-Dtx induced apoptosis and necroptosis in SCC-9 cells. G2/M cell cycle arrest has been confirmed on exposure of PLGA-Dtx for 24 h in SCC-9 cells. Interestingly, western blot investigation found that PLGA-Dtx increased the amounts of necroptic proteins and apoptosis-related proteins more efficiently than Dtx. Furthermore, PLGA-Dtx was more effective in terms of ROS generation, and mitochondrial membrane potential depletion. Pretreatment with necroptosis inhibitor Nec-1 efficiently reversed the ROS production and further recover MMP caused by PLGA-Dtx. Overall, this study revealed a mechanistic model of therapeutic response for PLGA-Dtx in SCC-9 cells and proposed its potency by inducing cell death via activation of concurrent apoptosis and necroptosis in SCC-9 cells via TNF-α/RIP1/RIP3 and caspase-dependent pathway.

10.
Indian J Public Health ; 67(4): 618-625, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-38934830

RESUMO

INTRODUCTION: Because of COVID's impact on social behavior, students have become more reliant on computer-facilitated communication to continue their studies and interact with friends. While it is known that the association between screen exposure and psychological well-being is both harmful and stronger among adolescents than younger children, what is less studied are the causal factors that may mediate the relationship. OBJECTIVES: The objectives of this study were to analyze the relationship between screen exposure and two psychological outcomes, sleep quality and loneliness, using digital eye strain as a mediating factor. Eye strain is expected to have a direct and harmful influence on psychological well-being. MATERIALS AND METHODS: A structured and validated questionnaire was transcribed and administered online. A nonrepresentative sample of 497 female college students in a North Indian city participated in the study. Digital eye strain, quality of sleep, and feeling of loneliness scores were assessed using latent class analysis. RESULTS: The selected latent model suggested that Class 2 had a high percentage of students with network issues, the problem with space and noise, and various financial hardships, which had almost doubled the rate of loneliness (53.28%) and sleep-wake difficulties (75.41%) among the students affected with computer vision syndrome (89.75%). CONCLUSION: There is an urgent need to examine the implications of digital exposure across gender and age to prevent future complications. Further, awareness for improving holistic well-being in the digital era should be promoted through various platforms.


Assuntos
COVID-19 , Solidão , Estudantes , Humanos , Feminino , Índia/epidemiologia , Solidão/psicologia , Estudantes/psicologia , Adulto Jovem , COVID-19/psicologia , COVID-19/epidemiologia , Adolescente , Prevalência , Universidades , Qualidade do Sono , Inquéritos e Questionários , Adulto , Astenopia/epidemiologia
11.
Indian J Public Health ; 67(1): 170-173, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37039226

RESUMO

Socio-ecological determinants of high myopia incidence among school students largely remain unexplored, especially in developing countries. A cross-sectional study was conducted in rural schools in North India to assess the relationship between these determinants and myopia among adolescent students. A public health nurse used a pre-tested questionnaire (demographics, family ocular status, and screen time) and Snellen's chart for testing visual acuity, and referred suspected cases for cycloplegic refraction assessment. Among the total of 955 students, the median (range) age was 14 (13-15) years. The prevalence of myopia was 5.03% (95% confidence interval [CI]: 4.99-5.07). Myopia was found to be associated with computer usage at school (P = 0.058), malnutrition (P = 0.001), and familial myopia (P = 0.079) in the bivariate analysis. Significant predictors of myopia in the regression model were females (odd ratio [OR]: 6.29; 95% CI: 2.69-14.72), higher maternal age (OR: 1.09; 95% CI: 1-1.17), and reading distance <20 cm (OR: 1.98; 95% CI: 1.01-3.87).


Assuntos
Miopia , Refração Ocular , Feminino , Adolescente , Humanos , Masculino , Estudos Transversais , Papel do Profissional de Enfermagem , Índia/epidemiologia , Miopia/epidemiologia , Estudantes , Prevalência
12.
Cell Tissue Res ; 388(2): 239-258, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35195784

RESUMO

Alzheimer's disease (AD) pathology is characterized by cognitive impairment, increased acetylcholinesterase (AChE) activity, and impaired neuronal communication. Clinically, AChE inhibitors are being used to treat AD patients; however, these remain unable to prevent the disease progression. Therefore, further development of new therapeutic molecules is required having broad spectrum effects on AD-related various neurodegenerative events. Since repurposing is a quick mode to search the therapeutic molecules; henceforth, this study was conducted to evaluate the anti-Alzheimer activity of drug guanabenz which is already in use for the management of high blood pressure in clinics. The study was performed employing both cellular and rat models of AD along with donepezil as reference drug. Guanabenz treatment in both the experimental models showed significant protection against AD-specific behavioral and pathological indicators like AChE activity, tau phosphorylation, amyloid precursor protein, and memory retention. In conjunction, guanabenz also attenuated the AD-related oxidative stress, impaired mitochondrial functionality (MMP, cytochrome-c translocation, ATP level, and mitochondrial complex I activity), endoplasmic reticulum stress (GRP78, GADD153, cleaved caspase-12), neuronal apoptosis (Bcl-2, Bax, cleaved caspase-3), and DNA fragmentation. In conclusion, findings suggested the panoptic protective effect of guanabenz on disease-related multiple degenerative markers and signaling. Furthermore, clinical trial may shed light and expedite the availability of new therapeutic anti-Alzheimer's molecule for the wellbeing of AD patients.


Assuntos
Doença de Alzheimer , Acetilcolinesterase/metabolismo , Doença de Alzheimer/tratamento farmacológico , Doença de Alzheimer/metabolismo , Peptídeos beta-Amiloides/metabolismo , Animais , Biomarcadores/metabolismo , Morte Celular , Guanabenzo/metabolismo , Guanabenzo/uso terapêutico , Humanos , Neurônios/metabolismo , Ratos
13.
Neurochem Res ; 47(11): 3385-3401, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35922743

RESUMO

Parkinson's disease (PD) is a progressive motor neurodegenerative disorder significantly associated with protein aggregation related neurodegenerative mechanisms. In view of no disease modifying drugs, the present study was targeted to investigate the therapeutic effects of pharmacological agent 4-phenylbutyric acid (4PBA) in PD pathology. 4PBA is an FDA approved monocarboxylic acid with inhibitory activity towards histone deacetylase and clinically treats urea cycle disorder. First, we observed the significant protective effects of 4PBA on PD specific neuromuscular coordination, level of tyrosine hydroxylase, α-synuclein level and neurotransmitter dopamine in both substantia nigra and striatal regions of the experimental rat model of PD. Further results revealed that treatment with 4PBA drug exhibited significant protection against disease related oxidative stress and augmented nitrite levels. The disease pathology-related depletion in mitochondrial membrane potential and augmented level of calcium as well as mitochondrion membrane located VDAC1 protein level and cytochrome-c translocation were also significantly attenuated with 4PBA administration. Inhibited neuronal apoptosis and restored neuronal morphology were also observed with 4PBA treatment as measured by level of pro-apoptotic proteins t-Bid, Bax and cleaved caspase-3 along with cresyl violet staining in both substantia nigra and striatal regions. Lastly, PD-linked astrocyte activation was significantly inhibited with 4PBA treatment. Altogether, our findings suggest that 4PBA exerts broad-spectrum neuroprotective effects in PD animal model.


Assuntos
Transtornos Motores , Fármacos Neuroprotetores , Doença de Parkinson , Animais , Astrócitos/metabolismo , Cálcio/metabolismo , Caspase 3/metabolismo , Citocromos/metabolismo , Citocromos/farmacologia , Citocromos/uso terapêutico , Modelos Animais de Doenças , Dopamina/metabolismo , Neurônios Dopaminérgicos , Histona Desacetilases/metabolismo , Mitocôndrias/metabolismo , Transtornos Motores/tratamento farmacológico , Transtornos Motores/metabolismo , Transtornos Motores/patologia , Fármacos Neuroprotetores/metabolismo , Fármacos Neuroprotetores/farmacologia , Fármacos Neuroprotetores/uso terapêutico , Nitritos/metabolismo , Doença de Parkinson/metabolismo , Fenilbutiratos , Agregados Proteicos , Ratos , Tirosina 3-Mono-Oxigenase/metabolismo , Canal de Ânion 1 Dependente de Voltagem/metabolismo , Canal de Ânion 1 Dependente de Voltagem/uso terapêutico , alfa-Sinucleína/metabolismo , Proteína X Associada a bcl-2/metabolismo
14.
Biochem J ; 478(7): 1435-1451, 2021 04 16.
Artigo em Inglês | MEDLINE | ID: mdl-33660768

RESUMO

Rivastigmine is a clinical drug for patients of Alzheimer's disease (AD) exerting its inhibitory effect on acetylcholinesterase activity however, its effect on other disease-related pathological mechanisms are not yet known. This study was conducted to evaluate the effect of rivastigmine on protein aggregation and degradation related mechanisms employing streptozotocin (STZ) induced experimental rat model. The known inhibitory effect of rivastigmine on cognition and acetylcholinesterase activity was observed in both cortex and hippocampus and further its effect on tau level, amyloid aggregation, biochemical alterations, endoplasmic reticulum (ER) stress, calcium homeostasis, proteasome activity and apoptosis was estimated. STZ administration in rat brain caused significant cognitive impairment, augmented acetylcholinesterase activity, tau phosphorylation and amyloid aggregation which were significantly inhibited with rivastigmine treatment. STZ also caused significant biochemical alterations which were attenuated with rivastigmine treatment. Since AD pathology is related to protein aggregation and we have found disease-related amyloid aggregation, further the investigation was done to decipher the ER functionality and apoptotic signalling. STZ caused significantly altered level of ER stress related markers (GRP78, GADD153 and caspase-12) which were significantly inhibited with rivastigmine treatment. Furthermore, the effect of rivastigmine was estimated on proteasome activity in both regions. Rivastigmine treatment significantly enhances the proteasome activity and may contributes in removal of amyloid aggregation. In conclusion, findings suggested that along with inhibitory effect of rivastigmine on acetylcholinesterase activity and up to some extent on cognition, it has significant effect on disease-related biochemical alterations, ER functionality, protein degradation machinery and neuronal apoptosis.


Assuntos
Doença de Alzheimer/complicações , Apoptose , Disfunção Cognitiva/prevenção & controle , Fármacos Neuroprotetores/farmacologia , Proteólise , Rivastigmina/farmacologia , Estreptozocina/toxicidade , Acetilcolinesterase/química , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Animais , Antibióticos Antineoplásicos/toxicidade , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/metabolismo , Disfunção Cognitiva/patologia , Estresse do Retículo Endoplasmático , Masculino , Ratos , Ratos Sprague-Dawley
15.
Nucleic Acids Res ; 48(D1): D1093-D1103, 2020 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-31680153

RESUMO

Plant Reactome (https://plantreactome.gramene.org) is an open-source, comparative plant pathway knowledgebase of the Gramene project. It uses Oryza sativa (rice) as a reference species for manual curation of pathways and extends pathway knowledge to another 82 plant species via gene-orthology projection using the Reactome data model and framework. It currently hosts 298 reference pathways, including metabolic and transport pathways, transcriptional networks, hormone signaling pathways, and plant developmental processes. In addition to browsing plant pathways, users can upload and analyze their omics data, such as the gene-expression data, and overlay curated or experimental gene-gene interaction data to extend pathway knowledge. The curation team actively engages researchers and students on gene and pathway curation by offering workshops and online tutorials. The Plant Reactome supports, implements and collaborates with the wider community to make data and tools related to genes, genomes, and pathways Findable, Accessible, Interoperable and Re-usable (FAIR).


Assuntos
Biologia Computacional/métodos , Bases de Dados Genéticas , Genômica , Metabolômica , Plantas/genética , Plantas/metabolismo , Proteômica , Redes Reguladoras de Genes , Genômica/métodos , Humanos , Redes e Vias Metabólicas , Metabolômica/métodos , Proteômica/métodos , Transdução de Sinais , Navegador
16.
Nucleic Acids Res ; 48(D1): D689-D695, 2020 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-31598706

RESUMO

Ensembl Genomes (http://www.ensemblgenomes.org) is an integrating resource for genome-scale data from non-vertebrate species, complementing the resources for vertebrate genomics developed in the context of the Ensembl project (http://www.ensembl.org). Together, the two resources provide a consistent set of interfaces to genomic data across the tree of life, including reference genome sequence, gene models, transcriptional data, genetic variation and comparative analysis. Data may be accessed via our website, online tools platform and programmatic interfaces, with updates made four times per year (in synchrony with Ensembl). Here, we provide an overview of Ensembl Genomes, with a focus on recent developments. These include the continued growth, more robust and reproducible sets of orthologues and paralogues, and enriched views of gene expression and gene function in plants. Finally, we report on our continued deeper integration with the Ensembl project, which forms a key part of our future strategy for dealing with the increasing quantity of available genome-scale data across the tree of life.


Assuntos
Biologia Computacional/métodos , Bases de Dados Genéticas , Variação Genética , Genoma Bacteriano , Genoma Fúngico , Genoma de Planta , Algoritmos , Animais , Caenorhabditis elegans/genética , Genômica , Internet , Anotação de Sequência Molecular , Fenótipo , Plantas/genética , Valores de Referência , Software , Interface Usuário-Computador
17.
Graefes Arch Clin Exp Ophthalmol ; 259(1): 213-221, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32803327

RESUMO

PURPOSE: To study the complications and surgical outcomes of cataract surgery in patients of persistent fetal vasculature (PFV) with cataract. METHODS: In this prospective study, phacoaspiration with/without intraocular lens implantation (IOL) was done in 20 children (mean age 14.2 months) with unilateral cataract with anterior (n = 6) or combined (n = 14) PFV. The rentrolental vascularized membrane was cauterized and dissected circumferentially, followed by cauterization and resection of the PFV stalk. The outcome measures included fixation preference using the CSM (central, steady, maintained) method and intraoperative and postoperative complications in an 18-month follow-up. The difference in outcomes of anterior and combined PFV, as well as aphakic and pseudophakic eyes, was studied. RESULTS: CSM fixation was seen in 16 patients after 18 months. The intraocular lens was implanted in 16 eyes and 4 eyes with combined PFV were left aphakic. None of our patients had intraoperative bleeding. Visual axis obscuration was the major complication seen, requiring membranectomy in 8 children. Pupilloplasty was required with membranectomy in one eye. None of our patients developed glaucoma or retinal detachment. CONCLUSION: Timely surgical intervention and aggressive amblyopia therapy led to good visual results in our study. Poor prognosis was seen in combined PFV, aphakia, and microphthalmia.


Assuntos
Extração de Catarata , Catarata , Catarata/complicações , Criança , Seguimentos , Humanos , Lactente , Complicações Pós-Operatórias , Estudos Prospectivos , Resultado do Tratamento , Acuidade Visual
18.
Graefes Arch Clin Exp Ophthalmol ; 259(5): 1333-1342, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33119803

RESUMO

INTRODUCTION: Rubella is an important infectious, vaccine-preventable etiology of congenital defects. The aim of the study was to develop a prediction nomogram to assess the probability of an infant being at risk for congenital rubella based on demographics and ophthalmological findings. METHODS: This was a cross-sectional sentinel surveillance study conducted at 5 centers spanning pan-India and involved 1134 infants. The diagnosis of rubella was made using standard guidelines. For the construction of the prediction model, laboratory-confirmed cases were grouped as "at-risk" (AR) infants and the discarded cases into "not at risk" (NAR) infants. Univariate analysis (p value cut-off < 0.05) followed by multivariate binary logistic regression model development was performed. RESULTS: The average (median) age of the suspected CRS infants was 3 (IQR 1-6) months, and the average (mean) age of their mothers was 25.8 ± 4.1 years. Out of the total infants, 81 (7.3%) died, 975 (88%) were alive, and 55 (5.0%) were lost to follow-up. The final model showed that the odds of cataract, retinopathy, glaucoma, microcornea, and age of the infant at presentation were 3.1 (2.2-4.3), 4.9(2.3-10.4), 2.7(1.1-5.9), 2.3(1.1-4.7), and 1.1 (1-1.1), respectively, for the AR infant as compared to NAR infant. AUC of final model was 0.68 (95% CI Delong, 0.64-0.72). Bootstrapping for calibration of the model showed satisfactory results. Nomogram, along with a web version, was developed. CONCLUSION: The developed nomogram would have a wide community-based utilization and will help in prioritizing attention to high-risk children, thereby avoiding loss to follow-up.


Assuntos
Rubéola (Sarampo Alemão) , Vigilância de Evento Sentinela , Anticorpos Antivirais , Criança , Estudos Transversais , Humanos , Lactente , Nomogramas , Probabilidade , Rubéola (Sarampo Alemão)/diagnóstico , Rubéola (Sarampo Alemão)/epidemiologia
19.
Indian J Med Res ; 151(5): 411-418, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32611912

RESUMO

Coronavirus disease 2019 (COVID-19) is caused by a highly contagious RNA virus termed as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Ophthalmologists are at high-risk due to their proximity and short working distance at the time of slit-lamp examination. Eye care professionals can be caught unaware because conjunctivitis may be one of the first signs of COVID-19 at presentation, even precluding the emergence of additional symptoms such as dry cough and anosmia. Breath and eye shields as well as N95 masks, should be worn while examining patients with fever, breathlessness, or any history of international travel or travel from any hotspot besides maintaining hand hygiene. All elective surgeries need to be deferred. Adults or children with sudden-onset painful or painless visual loss, or sudden-onset squint, or sudden-onset floaters or severe lid oedema need a referral for urgent care. Patients should be told to discontinue contact lens wear if they have any symptoms of COVID-19. Cornea retrieval should be avoided in confirmed cases and suspects, and long-term preservation medium for storage of corneas should be encouraged. Retinal screening is unnecessary for coronavirus patients taking chloroquine or hydroxychloroquine as the probability of toxic damage to the retina is less due to short-duration of drug therapy. Tele-ophthalmology and artificial intelligence should be preferred for increasing doctor-patient interaction.


Assuntos
Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/transmissão , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Exposição Ocupacional/prevenção & controle , Saúde Ocupacional/normas , Oftalmologia , Pandemias , Pneumonia Viral/epidemiologia , Pneumonia Viral/transmissão , COVID-19 , Conjuntivite/virologia , Transplante de Córnea , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Humanos , Oftalmologia/métodos , Equipamento de Proteção Individual , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Guias de Prática Clínica como Assunto , Fatores de Risco , Lágrimas/virologia , Telemedicina , Obtenção de Tecidos e Órgãos/normas
20.
BMC Ophthalmol ; 20(1): 71, 2020 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-32093669

RESUMO

BACKGROUND: Primary objective of this review was to measure compliance with spectacle use in children with refractive errors. Secondary objective was to understand the reasons for non-compliance. METHODS: The databases searched were Ovid, EMBASE, CINAHL and Pubmed. All studies up to March, 2018 were included. The search terms were- ((((((Compliance [Title/Abstract]) OR Adherence [Title/Abstract]) OR Compliant [Title/Abstract]) OR Adherent [Title/Abstract])) AND (((Spectacle [Title/Abstract]) OR Spectacles [Title/Abstract]) OR Eye Glasses [Title/Abstract])) AND ((((Child [Title/Abstract]) OR Children [Title/Abstract]) OR Adolescent [Title/Abstract]) OR Adolescents [Title/Abstract]). Two researchers independently searched the databases and initial screening obtained 33 articles. The PRISMA guidelines were followed for conducting and writing the systematic review. Two reviewers assessed data quality independently using the Quality Assessment tool for systematic reviews of observational studies (QATSO). Poor quality studies were those, which had a score of less than 33% on the QATSO tool. Sensitivity analysis was done to determine if poor quality studies effected compliance. Galbraith plot was used to investigate statistical heterogeneity amongst studies. A random effects model was used to pool compliance. RESULTS: Twenty-three studies were included in the review, of which 20 were included in the quantitative analysis. All the studies were cross sectional. The overall compliance with spectacle use was 40.14% (95% CI- 32.78-47.50). The compliance varied from 9.84% (95% CI = 2.36-17.31) to 78.57% (95% CI = 68.96-88.18). The compliance derived in sensitivity analysis was 40.09%. Reasons for non-compliance were broken/lost spectacles, forgetfulness, and parental disapproval. CONCLUSION: Appropriate remedial measures such as health education and strengthening vision care services will be required to address poor compliance with spectacle use among children.


Assuntos
Óculos/estatística & dados numéricos , Cooperação do Paciente/estatística & dados numéricos , Erros de Refração/terapia , Adolescente , Criança , Bases de Dados Factuais , Educação em Saúde , Humanos , Seleção Visual , Acuidade Visual
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