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1.
BMC Bioinformatics ; 25(1): 200, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38802733

ABSTRACT

BACKGROUND: The initial version of SEDA assists life science researchers without programming skills with the preparation of DNA and protein sequence FASTA files for multiple bioinformatics applications. However, the initial version of SEDA lacks a command-line interface for more advanced users and does not allow the creation of automated analysis pipelines. RESULTS: The present paper discusses the updates of the new SEDA release, including the addition of a complete command-line interface, new functionalities like gene annotation, a framework for automated pipelines, and improved integration in Linux environments. CONCLUSION: SEDA is an open-source Java application and can be installed using the different distributions available ( https://www.sing-group.org/seda/download.html ) as well as through a Docker image ( https://hub.docker.com/r/pegi3s/seda ). It is released under a GPL-3.0 license, and its source code is publicly accessible on GitHub ( https://github.com/sing-group/seda ). The software version at the time of submission is archived at Zenodo (version v1.6.0, http://doi.org/10.5281/zenodo.10201605 ).


Subject(s)
Computational Biology , Software , Computational Biology/methods , Data Analysis
2.
Int J Mol Sci ; 24(18)2023 Sep 21.
Article in English | MEDLINE | ID: mdl-37762667

ABSTRACT

HIV-associated neurocognitive disorders (HANDs) still persist despite improved life expectancy, reduced viral loads, and decreased infection severity. The number of patients affected by HANDs ranges from (30 to 50) % of HIV-infected individuals. The pathological mechanisms contributing to HANDs and the most serious manifestation of the disease, HIV-associated dementia (HAD), are not yet well understood. Evidence suggests that these mechanisms are likely multifactorial, producing neurocognitive complications involving disorders such as neurogenesis, autophagy, neuroinflammation, and mitochondrial dysfunction. Over the years, multiple pharmacological approaches with specific mechanisms of action acting upon distinct targets have been approved. Although these therapies are effective in reducing viral loading to undetectable levels, they also present some disadvantages such as common side effects, the need for administration with a very high frequency, and the possibility of drug resistance. Genetic studies on HANDs provide insights into the biological pathways and mechanisms that contribute to cognitive impairment in people living with HIV-1. Furthermore, they also help identify genetic variants that increase susceptibility to HANDs and can be used to tailor treatment approaches for HIV-1 patients. Identification of the genetic markers associated with disease progression can help clinicians predict which individuals require more aggressive management and by understanding the genetic basis of the disorder, it will be possible to develop targeted therapies to mitigate cognitive impairment. The main goal of this review is to provide details on the epidemiological data currently available and to summarise the genetic (specifically, the genetic makeup of the immune system), transcriptomic, and epigenetic studies available on HANDs to date. In addition, we address the potential pharmacological therapeutic strategies currently being investigated. This will provide valuable information that can guide clinical care, drug development, and our overall understanding of these diseases.


Subject(s)
AIDS Dementia Complex , HIV Infections , HIV-1 , Humans , HIV Infections/complications , HIV Infections/drug therapy , HIV Infections/genetics , Genomics , Neurocognitive Disorders/etiology , Neurocognitive Disorders/genetics , AIDS Dementia Complex/drug therapy , AIDS Dementia Complex/genetics
3.
Biomedicines ; 11(4)2023 Apr 21.
Article in English | MEDLINE | ID: mdl-37189848

ABSTRACT

High-throughput sequencing of small RNA molecules such as microRNAs (miRNAs) has become a widely used approach for studying gene expression and regulation. However, analyzing miRNA-Seq data can be challenging because it requires multiple steps, from quality control and preprocessing to differential expression and pathway-enrichment analyses, with many tools and databases available for each step. Furthermore, reproducibility of the analysis pipeline is crucial to ensure that the results are accurate and reliable. Here, we present myBrain-Seq, a comprehensive and reproducible pipeline for analyzing miRNA-Seq data that incorporates miRNA-specific solutions at each step of the analysis. The pipeline was designed to be flexible and user-friendly, allowing researchers with different levels of expertise to perform the analysis in a standardized and reproducible manner, using the most common and widely used tools for each step. In this work, we describe the implementation of myBrain-Seq and demonstrate its capacity to consistently and reproducibly identify differentially expressed miRNAs and enriched pathways by applying it to a real case study in which we compared schizophrenia patients who responded to medication with treatment-resistant schizophrenia patients to obtain a 16-miRNA treatment-resistant schizophrenia profile.

4.
Int J Mol Sci ; 24(3)2023 Jan 18.
Article in English | MEDLINE | ID: mdl-36768211

ABSTRACT

Schizophrenia (SZ) is a serious mental disorder that is typically treated with antipsychotic medication. Treatment-resistant schizophrenia (TRS) is the condition where symptoms remain after pharmacological intervention, resulting in long-lasting functional and social impairments. As the identification and treatment of a TRS patient requires previous failed treatments, early mechanisms of detection are needed in order to quicken the access to effective therapy, as well as improve treatment adherence. In this study, we aim to find a microRNA (miRNA) signature for TRS, as well as to shed some light on the molecular pathways potentially involved in this severe condition. To do this, we compared the blood miRNAs of schizophrenia patients that respond to medication and TRS patients, thus obtaining a 16-miRNA TRS profile. Then, we assessed the ability of this signature to separate responders and TRS patients using hierarchical clustering, observing that most of them are grouped correctly (~70% accuracy). We also conducted a network, pathway analysis, and bibliography search to spot molecular pathways potentially altered in TRS. We found that the response to stress seems to be a key factor in TRS and that proteins p53, SIRT1, MDM2, and TRIM28 could be the potential mediators of such responses. Finally, we suggest a molecular pathway potentially regulated by the miRNAs of the TRS profile.


Subject(s)
Antipsychotic Agents , MicroRNAs , Schizophrenia , Humans , Schizophrenia/drug therapy , Schizophrenia/genetics , Schizophrenia/diagnosis , MicroRNAs/genetics , MicroRNAs/therapeutic use , Schizophrenia, Treatment-Resistant , Antipsychotic Agents/pharmacology , Antipsychotic Agents/therapeutic use , Drug Resistance/genetics
5.
J Empir Res Hum Res Ethics ; 17(4): 461-470, 2022 10.
Article in English | MEDLINE | ID: mdl-35585705

ABSTRACT

Study designs involving randomization can be difficult to communicate to participants, especially those with low literacy. The literature on strategies to explain research concepts is limited, especially for non-English speakers. We measured the effectiveness of a culturally and contextually situated multimedia approach to recruit a cohort of 60 female Mexican immigrants (FMI) to a randomized control trial (RCT) to reduce social isolation and depression. This strategy was designed to explain the concept of randomization, explain what participating in the research study entailed, and ensure informed consent. Potential participants viewed a presentation explaining the study and a video including animation with voice-over explaining the concept of randomization. We administered a pre/post survey. Respondents (N = 59) reported an increase in their understanding of randomization, intention to enroll, and attitude towards participating in research. We conclude that a culturally and contextually situated multimedia approach is an effective model when recruiting underrepresented populations with low literacy for RCTs.


Subject(s)
Informed Consent , Multimedia , Female , Humans , Hispanic or Latino , Intention , Surveys and Questionnaires , Randomized Controlled Trials as Topic , Cultural Competency , Patient Selection , Emigrants and Immigrants , Mexico/ethnology , New Mexico
6.
Biomedicines ; 9(8)2021 Jul 30.
Article in English | MEDLINE | ID: mdl-34440127

ABSTRACT

The current use of combined antiretroviral therapy (cART) is leading to a significant decrease in deaths and comorbidities associated with human immunodeficiency virus type 1 (HIV-1) infection. Nonetheless, none of these therapies can extinguish the virus from the long-lived cellular reservoir, including microglia, thereby representing an important obstacle to curing HIV. Microglia are the foremost cells infected by HIV-1 in the central nervous system (CNS) and are believed to be involved in the development of HIV-1-associated neurocognitive disorder (HAND). At present, the pathological mechanisms contributing to HAND remain unclear, but evidence suggests that removing these infected cells from the brain, as well as obtaining a better understanding of the specific molecular mechanisms of HIV-1 latency in these cells, should help in the design of new strategies to prevent HAND and achieve a cure for these diseases. The goal of this review was to study the current state of knowledge of the neuropathology and research models of HAND containing virus susceptible target cells (microglial cells) and potential pharmacological treatment approaches under investigation.

7.
Comput Biol Med ; 135: 104603, 2021 08.
Article in English | MEDLINE | ID: mdl-34216893

ABSTRACT

MiRNAs are emerging as key molecules to study neuropsychiatric diseases. However, despite the large number of methodologies and software for miRNA-seq analyses, there is little supporting literature for researchers in this area. This review focuses on evaluating how miRNA-seq has been used to study neuropsychiatric diseases to date, analyzing both the main findings discovered and the bioinformatics workflows and tools used from a methodological perspective. The objective of this review is two-fold: first, to evaluate current miRNA-seq procedures used in neuropsychiatry; and second, to offer comprehensive information that can serve as a guide to new researchers in bioinformatics. After conducting a systematic search (from 2016 to June 30, 2020) of articles using miRNA-seq in neuropsychiatry, we have seen that it has already been used for different types of studies in three main categories: diagnosis, prognosis, and mechanism. We carefully analyzed the bioinformatics workflows of each study, observing a high degree of variability with respect to the tools and methods used and several methodological complexities that are identified and discussed in this review.


Subject(s)
MicroRNAs , Neuropsychiatry , Computational Biology , MicroRNAs/genetics , Sequence Analysis, RNA , Software
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