220,745 results on '"Bioinformatics"'
Search Results
2. "Copy Number Variant Calling And Recovery" in Patent Application Approval Process (USPTO 20240257904).
- Abstract
This patent application by Illumina Inc. describes a computer-based method for improving the detection of copy number variants (CNVs) in a genomic sequence. The method involves using genetic sequence variant data to determine an updated version of the initial CNV based on structural variant (SV) information. The determined SV-informed CNV call is then recorded in a genetic sequence variant data file. The invention aims to address limitations in current CNV detection technology and provide more accurate CNV calling. The patent application also includes a computer system that can perform this method. [Extracted from the article]
- Published
- 2024
3. Illumina Inc. Details Findings in Genetic Diseases and Conditions (The Impact of Clinical Genome Sequencing In a Global Population With Suspected Rare Genetic Disease).
- Abstract
A study conducted by Illumina Inc. examined the impact of clinical genome sequencing (cGS) on individuals with suspected rare genetic diseases (RGD) from diverse populations. The study found that cGS had a diagnostic yield of 41.4%, with individuals from low- and middle-income countries (LMICs) being 1.7 times more likely to receive a positive test result compared to high-income countries (HICs). Additionally, cGS led to changes in diagnostic evaluation and management for a significant number of individuals. The research suggests that increased access to genomic testing may help reduce global healthcare disparities and promote diagnostic equity. [Extracted from the article]
- Published
- 2024
4. Illumina launches new oncology menu for NovaSeq X Series customers.
- Abstract
Illumina Inc., a global leader in DNA sequencing and array-based technologies, has expanded its oncology menu for NovaSeq X Series customers. The company now offers the high-throughput version of TruSight Oncology 500 (TSO 500 HT) and the latest version of its distributed liquid biopsy research assay, TruSight Oncology 500 ctDNA v2 (TSO 500 ctDNA v2). These assays allow labs to expand oncology testing research of tissue and liquid biopsy samples with faster sequencing run times and broader batch sizes. The compatibility of these assays with the NovaSeq X Plus platform represents a transformative advancement in precision medicine. [Extracted from the article]
- Published
- 2024
5. Findings from Bihar in Bioinformatics Reported (Identification of Key Genes Associated with Polycystic Ovarian Syndrome and Endometrial and Ovarian Cancer through Bioinformatics).
- Abstract
A recent study conducted in Bihar, India, used bioinformatics analysis to identify key genes associated with polycystic ovarian syndrome (PCOS) and endometrial and ovarian cancer. The researchers obtained gene expression profiles from the Gene Expression Omnibus database and identified hub genes through functional enrichment analysis and protein-protein interaction. The study found that PCOS shares common molecular pathways with endometrial cancer and ovarian cancer, providing insights into potential therapeutic targets and pathways for these conditions. The findings contribute to a better understanding of the molecular mechanisms underlying the associations between PCOS and these types of cancer. [Extracted from the article]
- Published
- 2024
6. Study Data from Illumina Inc. Update Understanding of Cancer [A highly sensitive, low input, and automated assay for molecular residual disease detection (MRD) using whole-genome sequencing (WGS)].
- Abstract
A recent report from Illumina Inc. presents data on a highly sensitive and automated assay for detecting molecular residual disease (MRD) in cancer using whole-genome sequencing (WGS). The assay, called TruSight Oncology MRD WGS (TSO MRD), utilizes tumor-informed WGS of cell-free DNA (cfDNA) extracted from plasma samples to detect MRD across multiple cancer types. The assay demonstrated high analytical sensitivity and specificity, with a limit of detection of 0.001% VAF or 10 parts per million (PPM) in multiple cancer types. It also has a fast sample-to-answer turnaround time (TAT) of 5-7 days. This assay provides a streamlined MRD platform for various cancer types. [Extracted from the article]
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- 2024
7. Molecular Pathology of Lung Cancer
- Author
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James Saller and Theresa A. Boyle
- Subjects
Lung Neoplasms ,business.industry ,Molecular pathology ,Liquid Biopsy ,High-Throughput Nucleotide Sequencing ,Epigenome ,medicine.disease ,Bioinformatics ,General Biochemistry, Genetics and Molecular Biology ,Patient care ,Transcriptome ,Clinical trial ,Intratumor heterogeneity ,Carcinoma, Non-Small-Cell Lung ,Mutation ,medicine ,Biomarkers, Tumor ,Humans ,Liquid biopsy ,Pathology, Molecular ,Lung cancer ,business - Abstract
This overview of the molecular pathology of lung cancer includes a review of the most salient molecular alterations of the genome, transcriptome, and the epigenome. The insights provided by the growing use of next-generation sequencing (NGS) in lung cancer will be discussed, and interrelated concepts such as intertumor heterogeneity, intratumor heterogeneity, tumor mutational burden, and the advent of liquid biopsy will be explored. Moreover, this work describes how the evolving field of molecular pathology refines the understanding of different histologic phenotypes of non-small-cell lung cancer (NSCLC) and the underlying biology of small-cell lung cancer. This review will provide an appreciation for how ongoing scientific findings and technologic advances in molecular pathology are crucial for development of biomarkers, therapeutic agents, clinical trials, and ultimately improved patient care.
- Published
- 2024
8. Congenital and Hereditary Disorders of the Skin
- Author
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Cheryl B. Bayart and Heather A. Brandling-Bennett
- Subjects
Broad spectrum ,business.industry ,Medicine ,Hereditary disorders ,Bioinformatics ,business ,Organ system - Abstract
• Genodermatoses are a broad spectrum of heritable disorders that affect the skin, and may or may not affect other organ systems. • Classification and nomenclature of these disorders is evolving as we learn more about the genetic basis and pathogenesis of these conditions. • Genodermatoses that present in the neonatal period are discussed in this chapter.
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- 2024
9. Developmental and Inherited Liver Disease
- Author
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Eve A. Roberts, Alberto Quaglia, and Michael Torbenson
- Subjects
0301 basic medicine ,business.industry ,medicine.disease ,Bioinformatics ,Terminology ,Clinical Practice ,03 medical and health sciences ,Liver disease ,Ciliopathy ,030104 developmental biology ,0302 clinical medicine ,Medicine ,Bile formation ,030211 gastroenterology & hepatology ,business ,Pathological - Abstract
A new section on the approach to diagnostic histological interpretation, is the overture to this chapter on inherited and developmental disorders. This initial section is split chronologically into the early neonatal and infantile period and later childhood and adulthood; with the intention of reflecting clinical practice as closely and succinctly as possible. Disorders of the biliary tree, bile formation and secretion, and hepatocyte metabolism are the core of this chapter, a merger of chapters 3 and 4 of the previous edition. Considerations on the pathogenetic and/or clinical overlap between developmental, genetic and metabolic disorders were the rationale behind this change. The complexity of hepatocyte metabolism is reflected into the miriad of related pathological conditions. Recent technological advances, particularly in genomics in the last five years, have resulted in a plethora of new entities and changes in terminology, challenging the authors to balance detail and application to clinical practice. Tables and figures from previous editions have been largely kept due to their quality and contemporary relevance, whilst new ones have been added to accommodate new advances (e.g. classification of mitochondrial disorders), a compromise to bridge between the two editions for the accustomed reader. Liver involvement in immunodeficiency and miscellaneous disorders precede the final section on anatomical anomalies. Vascular anomalies are now included in the chapters on vascular disorders.
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- 2024
10. Patent Issued for Modulating polymer beads for DNA processing (USPTO 11999945).
- Abstract
A patent has been issued to Illumina Inc. for modulating polymer beads for DNA processing. The patent describes a polymer bead that can perform multiple co-assay reactions and a method for performing multiple sequential co-assays on a biomolecule encapsulated within the bead. The bead is made of a hydrogel polymer precursor and a crosslinker, with pores that allow diffusion of reagents while retaining the biomolecule. The size of the pores can be modulated based on changes in charge, pH, or temperature. This technology has applications in various areas such as genetic analysis, disease diagnosis, and studying genetic susceptibility. [Extracted from the article]
- Published
- 2024
11. Researchers Submit Patent Application, "Altered Cytidine Deaminases And Methods Of Use", for Approval (USPTO 20240182881).
- Abstract
A patent application has been submitted by researchers from Illumina Inc. for altered cytidine deaminases and methods of use. The invention aims to provide one-step enzymatic methods for determining the methylation status of DNA and RNA, as well as mapping 5-hydroxymethylcytosine (5 hmC) nucleotides. The altered cytidine deaminases described in the patent application offer advantages over current methods, including preservation of DNA complexity, single-step enzymatic reactions, and detection at single base resolution. The patent application provides detailed information on the altered cytidine deaminases, compositions, and methods involved. [Extracted from the article]
- Published
- 2024
12. NewBiologix Launches Proprietary HEK293 Cell Line for the Expression of Viral Vectors Used in Gene Therapy.
- Subjects
GENE therapy ,GENETIC vectors ,GENE expression ,CELL lines ,INFORMATION technology ,VACCINE manufacturing ,BIOTECHNOLOGY industries - Abstract
NewBiologix SA has launched a new cell line called NBX-HEK293 for the production of recombinant adeno-associated viruses (rAAV) used in gene therapy. This cell line has undergone complete sequencing and annotation, resulting in improved and more reliable rAAV titers compared to the host polyclonal HEK293 cell line. NBX-HEK293 also demonstrates robust growth properties and efficient production processes, making it an ideal choice for scalable gene therapy development. NewBiologix aims to streamline manufacturing processes to facilitate faster and more cost-effective delivery of gene therapies. [Extracted from the article]
- Published
- 2024
13. Patent Issued for Methods for screening solid tumors for mutations (USPTO 11981966).
- Abstract
Quest Diagnostics Investments LLC has been granted a patent for a method of screening solid tumors for mutations in cancer-related genes. The method involves creating a library of amplicons from formalin-fixed paraffin-embedded tumor samples, using a small amount of genomic DNA. This method can detect mutations in genes such as PIK3CA, PIK3R1, PTEN, NOTCH1, ERBB2, BRAF, and others, and is particularly useful for screening HER-2 negative breast cancer. The patent was filed by James Prentice and published in May 2024. These methods have the potential to improve patient outcomes and aid in selecting optimal therapeutic regimens for breast cancer, colorectal cancer, melanoma, and lung cancer. [Extracted from the article]
- Published
- 2024
14. Patent Issued for Sample preparation on a solid support (USPTO 11970695).
- Abstract
A patent has been issued to Illumina Cambridge Limited for a method of sample preparation on a solid support. The method involves fragmenting and tagging DNA using transposon compositions immobilized to a solid support. This method is useful for generating libraries of tagged DNA fragments for applications such as next-generation sequencing. The patent describes the specific steps and components involved in the method, including the use of transposase, polynucleotides, and tags. The invention aims to provide a more efficient and cost-effective approach to DNA sample preparation. [Extracted from the article]
- Published
- 2024
15. Investigating Viruses in Cells Used to Make Vaccines; and Evaluating the Potential Threat Posed by Transmission of Viruses to Humans.
- Subjects
DNA virus diseases ,MALIGNANT hyperthermia ,AIDS ,VIRUS diseases ,ONCOGENIC DNA viruses ,GENETIC vectors ,HEPATITIS B vaccines ,BACTERIAL vaccines - Abstract
This article discusses the investigation of viruses in cells used for vaccine production and the potential risks associated with virus transmission to humans. The laboratory is working on methods to detect and activate latent viruses in cell lines, as well as studying the biological processes that indicate virus activity. The article also mentions the evaluation of retrovirus infections in humans and the study of simian foamy viruses and their potential interactions with HIV-1. The goal is to ensure the safety and effectiveness of vaccines and develop guidelines for vaccine production and blood donation. The document is a list of scientific research articles covering various topics in virology and biotechnology, providing valuable information for researchers and professionals in the field. [Extracted from the article]
- Published
- 2024
16. Illumina appoints Ankur Dhingra Chief Financial Officer, Jakob Wedel Chief Strategy and Corporate Development Officer.
- Abstract
Illumina, a global leader in DNA sequencing and array-based technologies, has announced two new executive management team appointments. Ankur Dhingra has been appointed as Chief Financial Officer (CFO), bringing extensive experience from the life sciences tools, diagnostics, and pharmaceutical industries. Jakob Wedel has been named Chief Strategy and Corporate Development Officer, responsible for driving Illumina's strategic planning, partnerships, and acquisitions. Both executives are relocating to San Diego and will support the company's mission to improve human health by unlocking the power of the genome. The company has reaffirmed its guidance for the first quarter of 2024 and the full year. [Extracted from the article]
- Published
- 2024
17. New Genomics and Genetics Study Results from Illumina Inc. Described (Identification of Constrained Sequence Elements Across 239 Primate Genomes).
- Abstract
A recent study published in Genomics & Genetics Weekly discusses the identification of constrained sequence elements across 239 primate genomes. The researchers constructed a whole-genome alignment of 239 primate species and identified human regulatory elements that are under selective constraint in primates but not in other placental mammals. These regulatory elements are enriched for genetic variants that affect gene expression and complex traits and diseases in humans. The study highlights the role of recent evolution in differentiating primates, including humans, from other placental mammals. [Extracted from the article]
- Published
- 2024
18. Patent Issued for Reduced dimensionality structured illumination microscopy with patterned arrays of nanowells (USPTO 11933728).
- Subjects
MICROSCOPY ,POLARIZERS (Light) ,DIFFRACTION gratings ,OPTICAL diffraction ,OPTICAL gratings - Abstract
Illumina Inc. has been issued a patent for reduced dimensionality structured illumination microscopy with patterned arrays of nanowells. The patent describes a method of imaging a biological sample by projecting an optical pattern onto the sample and capturing multiple images of the pattern overlaid on the sample. The captured images are then used to reconstruct a high-resolution image of the sample. The patent also discusses the use of asymmetrically patterned flowcells containing elongated nanowells to reduce the number of images required for reconstruction. This technology has potential applications in fields such as genomics and healthcare information technology. [Extracted from the article]
- Published
- 2024
19. Gene and protein expression of epithelial to mesenchymal transition for intestinal and anal fistula: a systematic review
- Author
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Nazefah Abdul Hamid, Ruhi Fadzlyana Jailani, Hayati Abd Rahman, and Nadila Haryani Osman
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Messenger RNA ,medicine.diagnostic_test ,Transition (genetics) ,business.industry ,Gastroenterology ,medicine.disease ,Bioinformatics ,Western blot ,Downregulation and upregulation ,Fibrosis ,Medicine ,Surgery ,Epithelial–mesenchymal transition ,KEGG ,business ,Gene - Abstract
Purpose: Intestinal fibrosis is a common complication of inflammatory bowel diseases. However, the possible involvement of epithelial-mesenchymal transition (EMT) has been scarcely investigated. This systematic review aims to search through research papers that are focusing on messenger RNA (mRNA) and protein expression profile in EMT in fistula or in intestinal fibrosis.Methods: Electronic exploration was performed until April 24, 2019 through PubMed, Ovid, Science Direct, and Scopus databases with the terms of “fistula” OR “intestinal fibrosis” AND “epithelial-mesenchymal transition”. Two independent reviewers scrutinized the suitability of the title and abstract before examining the full text that met the inclusion criteria. For each study, the sample types that were used, methods for analysis, and genes expressed were identified. The list of genes was further analyzed using DAVID (Database for Annotation, Visualization, and Integrated Discovery) and KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway.Results: There were 896 citations found; however, only 3 studies fulfilled the requirements. Among the EMT-related genes, 5 were upregulated genes at mRNA level while 6 were at protein level. However, only 2 downregulated genes were found at each mRNA and protein level. Of the 4 inflammation-related genes found, 3 genes were upregulated at mRNA level and 1 at protein level. These genes were confirmed to be involved in the development of inflammatory induced fibrosis and fistula through EMT. Results from quantitative real-time polymerase chain reaction analysis were consistent with the process of EMT, confirmed by the western blot protein analysis.Conclusion: Many significant genes which are involved in the process of EMT in fistula and intestinal fibrosis have been identified. With high-end technology many more genes could be identified. These genes will be good molecular targets in the development of biomarkers for precision drug targeting in the future treatment of intestinal fibrosis and fistula.
- Published
- 2023
20. A review of ex vivo placental perfusion models: an underutilized but promising method to study maternal-fetal interactions
- Author
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Lucia Vojtech, Pinar Calis, Michael G. Gravett, and Florian Hladik
- Subjects
Fetus ,Pregnancy ,business.industry ,Placenta ,Obstetrics and Gynecology ,medicine.disease ,Bioinformatics ,Perfusion ,Functional integrity ,medicine.anatomical_structure ,Intercurrent disease ,Pediatrics, Perinatology and Child Health ,medicine ,Maternal fetal ,Humans ,Female ,business ,Maternal-Fetal Exchange ,Ex vivo - Abstract
Studying the placenta can provide information about the mechanistic pathways of pregnancy disease. However, analyzing placental tissues and manipulating placental function in real-time during pregnancy is not feasible. The ex vivo placental perfusion model allows observing important aspects of the physiology and pathology of the placenta, while maintaining its viability and functional integrity, and without causing harm to mother or fetus. In this review, we describe and compare setups for this technically complex model and summarize outcomes from various published studies. We hope that our review will encourage wider use of ex vivo placental perfusion, which in turn would generate more knowledge to improve pregnancy outcomes.
- Published
- 2023
21. Why do a PhD? Tips and pitfalls.
- Author
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Thillainadesan, Janani and Wu, Helen
- Subjects
LIFESTYLES ,SCHOLARLY method ,GERIATRICS ,BIOINFORMATICS ,ORGANIZATIONAL effectiveness ,BUSINESS ,DEMENTIA ,SUPERVISION of employees ,MEDICAL research - Abstract
Separate interviews with geriatricians, Doctors Janani Thillainadesan and Helen Wu are presented. They cite their reasons for pursuing a doctoral degree in geriatric medicine. They explain how they decide or select their research topics and their supervisors. They claim that their research was funded by the National Health and Medical Research Council Postgraduate Scholarship (NHMRC) in Australia.
- Published
- 2022
- Full Text
- View/download PDF
22. Modulation of gut microbiota by foods and herbs to prevent cardiovascular diseases
- Author
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Chi-Tang Ho, Chieh Chang Chen, Wei-Kai Wu, Ming-Shiang Wu, Suraphan Panyod, and Lee-Yan Sheen
- Subjects
medicine.medical_specialty ,biology ,Synbiotics ,business.industry ,digestive, oral, and skin physiology ,Disease ,Gut flora ,Bioinformatics ,biology.organism_classification ,digestive system ,Gut microbiome ,Complementary and alternative medicine ,Medicine ,Dietary nutrients ,Dietary therapy ,Adverse effect ,business ,Preventive healthcare - Abstract
Dietary nutrients are associated with the development of cardiovascular disease (CVD) both through traditional pathways (inducing hyperlipidemia and chronic inflammation) and through the emergence of a metaorganism-pathogenesis pathway (through the gut microbiota, its metabolites, and host). Several molecules from food play an important role as CVD risk-factor precursors either themselves or through the metabolism of the gut microbiome. Animal-based dietary proteins are the primary source of CVD risk-factor precursors; however, some plants also possess these precursors, though at relatively low levels compared with animal-source food products. Various medications have been developed to treat CVD through the gut-microbiota–circulation axis, and they exhibit potent effects in CVD treatment. Nevertheless, such medicines are still being improved, and there are many research gaps that need to be addressed. Furthermore, some medications have unpleasant or adverse effects. Numerous foods and herbs impart beneficial effects upon health and disease. In the past decade, many studies have focused on treating and preventing CVD by modulating the gut microbiota and their metabolites. This review provides an overview of the available information, summarizes current research related to the gut-microbiota–heart axis, enumerates the foods and herbs that are CVD-risk precursors, and illustrates how metabolites become CVD risk factors through the metabolism of gut microbiota. Moreover, we present perspectives on the application of foods and herbs—including prebiotics, probiotics, synbiotics, postbiotics, and antibiotic-like substances—as CVD prevention agents to modulate gut microbiota by inhibiting gut-derived CVD risk factors. Taxonomy (classification by EVISE) Cardiovascular disease, gut microbiota, herbal medicine, preventive medicine, dietary therapy, nutrition supplements.
- Published
- 2023
23. The pleiotropic of GLP-1/GLP-1R axis in central nervous system diseases
- Author
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Long-Qing Zhang, Xuebi Tian, and Wen Zhang
- Subjects
0301 basic medicine ,endocrine system ,medicine.medical_treatment ,Central nervous system ,Excitotoxicity ,Ischemia ,Bioinformatics ,medicine.disease_cause ,Neuroprotection ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,Spinal cord injury ,business.industry ,General Neuroscience ,Insulin ,digestive, oral, and skin physiology ,Type 2 Diabetes Mellitus ,General Medicine ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,Neuron ,business ,hormones, hormone substitutes, and hormone antagonists ,030217 neurology & neurosurgery - Abstract
Glucagon-like peptide-1(GLP-1) is a multifunctional polypeptide throughout the lifespan via activating Glucagon-like peptide-1 receptor (GLP-1R).GLP-1 can affect food ingestion, enhance the secretion of insulin from pancreatic islets induced by glucose and be utilized to treat type 2 diabetes mellitus(T2DM).But, accumulating evidences from the decades suggest that activation GLP-1R can not only regulate the blood glucose, but also sustain the homeostasis of intracellular environment and protect neuron from various damaged responses such as oxidative stress, inflammation, excitotoxicity, ischemia and so on. And more and more pre-clinical and clinical studies identified that GLP-1 and its analogues may play a significant role in improving multiple central nervous system (CNS) diseases including neurodegenerative diseases, epilepsy, mental disorders, ischemic stroke, hemorrhagic stroke, traumatic brain injury, spinal cord injury, chronic pain, addictive disorders, other diseases neurological complications and so on. In order to better reveal the relationship between GLP-1/GLP-1R axis and the growth, development and survival of neurons, herein, this review is aimed to summarize the multi-function of GLP-1/GLP-1R axis in CNS diseases.
- Published
- 2023
24. Categorization of patients with systemic lupus erythematosus using disease activity, patient-reported outcomes, and transcriptomic signatures
- Author
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Elisabeth Jouve, Noémie Jourde-Chiche, Laurent Chiche, and Robin Arcani
- Subjects
Transcriptome ,Disease activity ,Text mining ,Categorization ,Rheumatology ,business.industry ,Medicine ,General Medicine ,business ,Bioinformatics - Abstract
Objective Patients with systemic lupus erythematosus (SLE) display symptoms that are not always related to disease activity and may distort clinical trial results. Recently, a clinical categorization based on the presence of type 1 (inflammatory manifestations) and/or type 2 (widespread pain, fatigue, depression) symptoms has been proposed in SLE. Our aim was to develop a type 2 score derived from the Short-Form health survey (SF-36) to categorize SLE patients and to compare immunological and transcriptomic profiles between groups. Methods Seventeen items from the SF-36 were selected to build a type 2 score for 50 SLE patients (100 visits; LUPUCE cohort) and the SLEDAI was used to define type 1 symptoms. Patients were categorized in four groups: minimal (no symptoms), type 1, type 2 and mixed (both type 1 and type 2 symptoms). Clinical, immunological and transcriptomic profiles were compared between the groups. Results Type 2 scores ranged from 0 to 31, with a cut-off value of 14 (75th percentile). The sample categorization was: minimal in 39%, type 1 in 37%, type 2 in 9% and mixed in 15%. Type 2 patients were older than minimal patients and had a longer disease duration than type 1 and mixed patients. Immunological data and modular interferon signatures did not differ between the groups. Conclusion Patients with SLE can be categorized into four clinical groups using the SLEDAI score and our SF-36-derived type 2 score. This categorization is non-redundant with immunological or transcriptomic profiles and could prove useful to stratify patients in clinical trials.
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- 2023
25. Clinical features of Danon disease and insights gained from LAMP-2 deficiency models
- Author
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Ying Peng, Jianzeng Dong, Jinxin Miao, Yaohe Wang, Yafei Zhai, and Xiaoyan Zhao
- Subjects
LAMP2 ,business.industry ,Mechanism (biology) ,Autophagy ,Gene mutation ,medicine.disease ,Bioinformatics ,Phenotype ,In vivo ,Medicine ,Danon disease ,Cardiology and Cardiovascular Medicine ,business ,Induced pluripotent stem cell - Abstract
Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation. Cardiac involvement can be fatal in the absence of an effective treatment option such as heart transplantation. Molecular studies have proved that LAMP-2 protein deficiency, mainly LAMP-2B isoform, resulting from LAMP2 gene mutation, is the culprit for DD. Autophagy impairment due to LAMP-2 deficiency mediated the accumulation of abnormal autophagic vacuoles in cells. While it is not ideal for mimicking DD phenotypes in humans, the emergence of LAMP-2-deficient animal models and induced pluripotent stem cells from DD patients provided powerful tools for exploring DD mechanism. In both in vitro and in vivo studies, much evidence has demonstrated that mitochondria dysfunction and fragmentation can result in DD pathology. Fundamental research contributes to the therapeutic transformation. By targeting the molecular core, several potential therapies have demonstrated promising results in partial phenotypes improvement. Among them, gene therapies anticipate inaugurate a class of symptom control and prevention drugs as their in vivo effects are promising, and one clinical trial is currently underway.
- Published
- 2023
26. Diabetic Neuropathy: Review on Molecular Mechanisms
- Author
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Samruddhi A Kavishwar and Mrinal M Sanaye
- Subjects
MAPK/ERK pathway ,education.field_of_study ,Diabetic neuropathy ,business.industry ,Population ,Wnt signaling pathway ,General Medicine ,medicine.disease ,Bioinformatics ,Biochemistry ,Peripheral neuropathy ,Polyol pathway ,Hyperalgesia ,medicine ,Molecular Medicine ,medicine.symptom ,business ,education ,Molecular Biology ,PI3K/AKT/mTOR pathway - Abstract
Diabetic mellitus is a worldwide endocrine and metabolic disorder with insulin insensitivity or deficiency or both whose prevalence could rise up to 592 million by 2035. Consistent hyperglycemia leads to one of the most common comorbidities like Diabetic Peripheral Neuropathy (DPN). DPN is underlined with unpleasant sensory experience, such as tingling and burning sensation, hyperalgesia, numbness, etc. Globally, 50-60% of the diabetic population is suffering from such symptoms as microvascular complications. Consistent hyperglycemia during DM causes activation/inhibition of various pathways playing important role in the homeostasis of neurons and other cells. Disruption of these pathways results into apoptosis and mitochondrial dysfunctions, causing neuropathy. Among these, pathways like Polyol and PARP are some of the most intensively studied ones whereas those like Wnt pathway, Mitogen activated protein kinase (MAPK), mTOR pathway are comparatively newly discovered. Understanding of these pathways and their role in pathophysiology of DN underlines a few molecules of immense therapeutic value. The inhibitors or activators of these molecules can be of therapeutic importance in the management of DPN. This review, hence, focuses on these underlying molecular mechanisms intending to provide therapeutically effective molecular targets for the treatment of DPN.
- Published
- 2023
27. Therapeutic advances in spinal muscular atrophy
- Author
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Tracey Willis
- Subjects
Mutation ,business.industry ,Genetic enhancement ,Spinal muscular atrophy ,Motor neuron ,Bioinformatics ,SMA ,medicine.disease ,medicine.disease_cause ,Clinical trial ,Pathogenesis ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Medicine ,medicine.symptom ,business ,Wasting - Abstract
Spinal muscular atrophy (SMA) is a rare neuromuscular condition, characterized by loss of motor neurons as a result of a mutation in the survival motor neuron gene. This results in muscle wasting and in the most common and severe type, death before 24 months. Over the recent years there has been a dynamic shift in the therapeutic options for these patients involving both clinical trials in genetic modifying therapies to indirectly improve the survival motor neuron protein level and hence strength, muscle promotor therapies, up/down regulation of modifier genes and more recently gene therapy to replace the mutated survival motor neuron gene. This review addresses the pathogenesis of SMA and the resultant therapeutic approaches as well as the current state in clinical trials and future development.
- Published
- 2023
28. Rapid-onset clozapine-induced hyperglycaemia: pathways of glycaemic dysregulation
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Vera Fernandes and Mariana Barbosa
- Subjects
Blood Glucose ,business.industry ,medicine.drug_class ,Atypical antipsychotic ,General Medicine ,Middle Aged ,medicine.disease ,Bioinformatics ,Metformin ,Gestational diabetes ,Dyskinesia ,Diabetes mellitus ,Hyperglycemia ,Empagliflozin ,medicine ,Schizophrenia ,Humans ,Female ,medicine.symptom ,business ,Exenatide ,Clozapine ,medicine.drug ,Antipsychotic Agents - Abstract
Clozapine is an atypical antipsychotic used in refractory schizophrenia, also efficient in alleviating dyskinesia in Parkinson’s disease. Despite its potency, this drug is associated with severe metabolic side effects, including increased risk for diabetes. We report the case of a 45-year-old overweight woman with Parkinson’s disease who presented with rapid-onset hyperglycaemia within 2 months after starting clozapine for refractory dyskinaesia. She had a history of gestational diabetes. At presentation, her blood glucose level was 505 mg/dL and glycated haemoglobin 12.4%, with no catabolic symptoms. Clozapine was suspended and metformin was started, but adequate glycaemic control was achieved only with insulin therapy, along with exenatide and empagliflozin afterwards. We assume that clozapine acted as a trigger for rapid deterioration of glycaemic control through direct pathophysiological mechanisms, rather than an indirect slowly evolving weight gain-related metabolic syndrome pathway. Clinicians should be aware of this complication, enabling timely diagnosis and proper treatment.
- Published
- 2023
29. Opioid Modulation of the Gut-Brain Axis in Opioid-Associated Comorbidities
- Author
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Sabita Roy and Li Zhang
- Subjects
Hemostasis ,biology ,business.industry ,Gut–brain axis ,Central nervous system ,Comorbidity ,Gut flora ,Bioinformatics ,biology.organism_classification ,General Biochemistry, Genetics and Molecular Biology ,Gastrointestinal Microbiome ,Transplantation ,Analgesics, Opioid ,medicine.anatomical_structure ,Opioid ,Brain-Gut Axis ,Neuroinflammatory Diseases ,medicine ,Humans ,Signal transduction ,business ,Homeostasis ,Neuroinflammation ,medicine.drug - Abstract
Growing evidence from animal and human studies show that opioids have a major impact on the composition and function of gut microbiota. This leads to disruption in gut permeability and altered microbial metabolites, driving both systemic and neuroinflammation, which in turn impacts central nervous system (CNS) homeostasis. Tolerance and dependence are the major comorbidities associated with prolonged opioid use. Inflammatory mediators and signaling pathways have been implicated in both opioid tolerance and dependence. We provide evidence that targeting the gut microbiome during opioid use through prebiotics, probiotics, antibiotics, and fecal microbial transplantation holds the greatest promise for novel treatments for opioid abuse. Basic research and clinical trials are required to examine what is more efficacious to yield new insights into the role of the gut-brain axis in opioid abuse.
- Published
- 2023
30. The role of pathological aging in cardiac and pulmonary fibrosis
- Author
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Aaron L. Sverdlov, Michael Schuliga, Doan T.M. Ngo, Lucy A. Murtha, Andrew J. Boyle, Matthew Morten, David W Waters, N. Mabotuwana, Janette K. Burgess, Darryl A. Knight, and Sean A. Hardy
- Subjects
0301 basic medicine ,Senescence ,autophagy ,senescence ,MITOCHONDRIAL DYSFUNCTION ,Cardiac fibrosis ,Disease ,heart ,Bioinformatics ,Pathology and Forensic Medicine ,lung ,MECHANISMS ,03 medical and health sciences ,Idiopathic pulmonary fibrosis ,0302 clinical medicine ,INFLAMMATION ,Fibrosis ,Pulmonary fibrosis ,medicine ,PLASMINOGEN-ACTIVATOR ,Lung ,pulmonary fibrosis ,business.industry ,aging ,CELLULAR SENESCENCE ,Cell Biology ,DIASTOLIC DYSFUNCTION ,MOUSE MODEL ,DNA ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,Heart failure ,HEART-FAILURE ,Original Article ,inflammaging ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,030217 neurology & neurosurgery - Abstract
Aging promotes a range of degenerative pathologies characterized by progressive losses of tissue and/or cellular function. Fibrosis is the hardening, overgrowth and scarring of various tissues characterized by the accumulation of extracellular matrix components. Aging is an important predisposing factor common for fibrotic heart and respiratory disease. Age-related processes such as senescence, inflammaging, autophagy and mitochondrial dysfunction are interconnected biological processes that diminish the regenerative capacity of the aged heart and lung and have been shown to play a crucial role in cardiac fibrosis and idiopathic pulmonary fibrosis. This review focuses on these four processes of aging in relation to their role in fibrosis. It has long been established that the heart and lung are linked both functionally and anatomically when it comes to health and disease, with an ever-expanding aging population, the incidence of fibrotic disease and therefore the number of fibrosis-related deaths will continue to rise. There are currently no feasible therapies to treat the effects of chronic fibrosis therefore highlighting the importance of exploring the processes of aging and its role in inducing and exacerbating fibrosis of each organ. The focus of this review may help to highlight potential avenues of therapeutic exploration.
- Published
- 2023
31. A systematic review of nonsynonymous single nucleotide polymorphisms in the renin–angiotensin–aldosterone system
- Author
-
Tomasz Rechciński and Jarosław D. Kasprzak
- Subjects
Nonsynonymous substitution ,Angiotensin receptor ,medicine.medical_specialty ,Aldosterone ,business.industry ,Single-nucleotide polymorphism ,General Medicine ,Bioinformatics ,Phenotype ,Pathogenesis ,chemistry.chemical_compound ,chemistry ,Internal medicine ,Renin–angiotensin system ,Cardiology ,Medicine ,Genetic variability ,Cardiology and Cardiovascular Medicine ,business - Abstract
In this recent publication review the authors aimed to collect evidence of impact of nonsynonymous single nucleotide polymorphisms (nsSNP) in the renin–angiotensin–aldosterone system on patients’ phenotype not only regarding arterial hypertension and its complications, but also the impact on other diseases of interest outside the field of cardiovascular medicine. PubMed database records published between 2017–2020 were searched and all positive case-control studies or positive studies with human DNA were selected. The search identified 104 articles, of which 22 were included on the basis of the inclusion criteria. This paper presents the impact of 44 nsSNPs in panels for genes of renin, angiotensinogen, angiotensin-converting enzyme, angiotensin receptor and aldosterone on the clinical picture of investigated cohorts or on the peptide-protein interactions as consequence of nsSNPs. Genetic variability in nsSNPs of the RAAS is involved in the pathogenesis of arterial hypertension and its complications, and surprisingly also in the pathogenesis of conditions not associated with elevated blood pressure, like neoplasms or inflammatory diseases.
- Published
- 2022
32. Melatonin and adolescent idiopathic scoliosis: The present evidence
- Author
-
Giuseppe Gargano, Filippo Migliorini, Francesco Oliva, and Nicola Maffulli
- Subjects
Adolescent ,Adolescent idiopathic scoliosis ,Hormonal imbalance ,Melatonin ,Spine deformity ,business.industry ,Level iv ,Idiopathic scoliosis ,Evidence-based medicine ,Bioinformatics ,Pathophysiology ,Pathogenesis ,Scoliosis ,medicine ,Humans ,Surgery ,business ,medicine.drug ,Systematic search ,Hormone - Abstract
Introduction Adolescent idiopathic scoliosis (AIS) is a multifactorial condition with genetic predisposing factors, and several causes have been put forward for its aetiopathogenesis, including possible hormonal dysfunction. Melatonin seems to play significant role in AIS. Methods A systematic search in different database, to July 2021, was performed to define the role of melatonin in the pathophysiology of adolescent idiopathic scoliosis. Eight suitable studies were identified. Results The concentration and rhythm of melatonin secretion can play an important role by influencing the pathogenesis of adolescent idiopathic scoliosis. Conclusions Although there are many alterations of melatonin in subjects with adolescent idiopathic scoliosis, the many variables present do not allow to establish a direct cause–effect relationship. Level of evidence Level IV.
- Published
- 2022
33. The Role of the Human Gutome on Chronic Disease
- Author
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Leah K. Hollon, Carrie C. Hoefer, and Jennifer A. Campbell
- Subjects
business.industry ,Colorectal cancer ,Biochemistry (medical) ,Clinical Biochemistry ,General Medicine ,medicine.disease ,Bioinformatics ,Obesity ,Breast cancer ,Chronic disease ,Nutrigenomics ,Diabetes mellitus ,medicine ,Microbiome ,business - Published
- 2022
34. TNF-α Inhibitors from Natural Compounds: An Overview, CADD Approaches, and their Exploration for Anti-inflammatory Agents
- Author
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Edeildo Ferreira da Silva-Júnior and Igor José Dos Santos Nascimento
- Subjects
Drug ,medicine.drug_class ,media_common.quotation_subject ,Anti-Inflammatory Agents ,Secondary Metabolism ,Arthritis ,Context (language use) ,Inflammation ,Bioinformatics ,Anti-inflammatory ,Drug Discovery ,medicine ,Humans ,media_common ,Biological Products ,Drug discovery ,business.industry ,Organic Chemistry ,Cancer ,General Medicine ,Plants ,medicine.disease ,Computer Science Applications ,Drug Design ,Tumor Necrosis Factor Inhibitors ,Tumor necrosis factor alpha ,medicine.symptom ,business - Abstract
Inflammation is a natural process that occurs in the organism in response to harmful external agents. Despite being considered beneficial, exaggerated cases can cause severe problems for the body. The main inflammatory manifestations are pain, increased temperature, edema, decreased mobility, and quality of life for affected individuals. Diseases such as arthritis, cancer, allergies, infections, arteriosclerosis, neurodegenerative diseases, and metabolic problems are mainly characterized by an exaggerated inflammatory response. Inflammation is related to two categories of substances: pro- and anti-inflammatory mediators. Among the pro-inflammatory mediators is Tumor Necrosis Factor-α (TNF-α). It is associated with immune diseases, cancer, and psychiatric disorders which increase its excretion. Thus, it becomes a target widely used in discovering new antiinflammatory drugs. In this context, secondary metabolites biosynthesized by plants have been used for thousands of years and continue to be one of the primary sources of new drug scaffolds against inflammatory diseases. To decrease costs related to the drug discovery process, Computer-Aided Drug Design (CADD) techniques are broadly explored to increase the chances of success. In this review, the main natural compounds derived from alkaloids, flavonoids, terpene, and polyphenols as promising TNF-α inhibitors will be discussed. Finally, we applied a molecular modeling protocol involving all compounds described here, suggesting that their interactions with Tyr59, Tyr119, Tyr151, Leu57, and Gly121 residues are essential for the activity. Such findings can be useful for research groups worldwide to design new anti-inflammatory TNF-α inhibitors.
- Published
- 2022
35. Understanding the cross-talk between human microbiota and gastrointestinal cancer for developing potential diagnostic and prognostic biomarkers
- Author
-
Sheetal Kashyap, Sasanka Chakrabarti, Adesh K. Saini, Neeraj K. Saini, Vipin Saini, Gourav Chandan, Vijay Kumar Thakur, Amit Mittal, Reena V. Saini, and Soumya Pal
- Subjects
0301 basic medicine ,Cancer Research ,Carcinogenesis ,Colorectal cancer ,Population ,medicine.disease_cause ,Bioinformatics ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Gastrointestinal cancer ,education ,Gastrointestinal Neoplasms ,education.field_of_study ,business.industry ,Microbiota ,Human microbiome ,Cancer ,Immune dysregulation ,Esophageal cancer ,Prognosis ,medicine.disease ,Gastrointestinal Microbiome ,030104 developmental biology ,030220 oncology & carcinogenesis ,Biomarker (medicine) ,business - Abstract
The interaction between gut microbes and gastrointestinal (GI) tract carcinogenesis has always attracted researchers' attention to identify therapeutic targets or potential prognostic biomarkers. Various studies have suggested that the microbiota do show inflammation and immune dysregulation, which led to carcinogenesis in GI tract. In this review, we have focused on the role of microbes present in the gut, intestine, or faeces in GI tract cancers, including esophageal cancer, gastric cancer, and colorectal cancer. Herein, we have discussed the importance of the microbes and their metabolites, which could serve as diagnostic biomarkers for cancer detection, especially in the early stage, and prognostic markers. To maximize the effect of the treatment strategies, an accurate evaluation of the prognosis is imperative for clinicians. There is a vast difference in the microbiota profiles within a population and across the populations depending upon age, diet, lifestyle, genetic makeup, use of antibiotics, and environmental factors. Therefore, the diagnostic efficiency of the microbial markers needs to be further validated. A deeper understanding of the GI cancer and the host microbiota is needed to acquire pivotal information about disease status.
- Published
- 2022
36. Unlocking the Potential of Induced Pluripotent Stem Cells for Wound Healing: The Next Frontier of Regenerative Medicine
- Author
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Prashanth Vallabhajosyula, Laxminarayana Korutla, Henry C. Hsia, and Biraja C. Dash
- Subjects
0301 basic medicine ,Induced Pluripotent Stem Cells ,Regenerative Medicine ,Critical Care and Intensive Care Medicine ,Bioinformatics ,Exosome ,Regenerative medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Animals ,Medicine ,Induced pluripotent stem cell ,Skin ,Wound Healing ,Tissue Engineering ,integumentary system ,business.industry ,Cell migration ,030104 developmental biology ,Emergency Medicine ,Wound closure ,Personalized medicine ,Stem cell ,business ,Wound healing - Abstract
Significance: Nonhealing wounds are a significant burden for the health care system all over the world. Existing treatment options are not enough to promote healing, highlighting the urgent need for improved therapies. In addition, the current advancements in tissue-engineered skin constructs and stem cell-based therapies are facing significant hurdles due to the absence of a renewable source of functional cells. Recent Advances: Induced pluripotent stem cell technology (iPSC) is emerging as a novel tool to develop the next generation of personalized medicine for the treatment of chronic wounds. The iPSC provides unlimited access to various skin cells to generate complex personalized three-dimensional skin constructs for disease modeling and autologous grafts. Furthermore, the iPSC-based therapies can target distinct wound healing phases and have shown accelerating wound closure by enhancing angiogenesis, cell migration, tissue regeneration, and modulating inflammation. Critical Issues: Since the last decade, iPSC has been revolutionizing the field of wound healing and skin tissue engineering. Despite the current progress, safety and heterogeneity among iPSC lines are still major hurdles in addition to the lack of large animal studies. These challenges need to be addressed before translating an iPSC-based therapy to the clinic. Future Directions: Future considerations should be given to performing large animal studies to check the safety and efficiency of iPSC-based therapy in a wound healing setup. Furthermore, strategies should be developed to overcome variation between hiPSC lines, develop an efficient manufacturing process for iPSC-derived products, and generate complex skin constructs with vasculature and skin appendages.
- Published
- 2022
37. A comprehensive review of the multifaceted role of the microbiota in human pancreatic carcinoma
- Author
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Arul Goel, Amit Kumar Pandey, Aishwarya Singh, Manoj Garg, Gautam Sethi, Kanchugarakoppal S. Rangappa, Simran Tandon, Chakrabhavi Dhananjaya Mohan, Gouri Pandya, Anuradha Kirtonia, and Sonia Kapoor
- Subjects
0301 basic medicine ,Cancer Research ,medicine.medical_treatment ,Antineoplastic Agents ,Bioinformatics ,digestive system ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Quality research ,Pancreatic cancer ,Tumor Microenvironment ,Humans ,Medicine ,Microbiome ,Pancreatic carcinoma ,Tumor microenvironment ,business.industry ,Mechanism (biology) ,Microbiota ,Immunotherapy ,medicine.disease ,Gastrointestinal Microbiome ,Pancreatic Neoplasms ,stomatognathic diseases ,030104 developmental biology ,030220 oncology & carcinogenesis ,business - Abstract
Pancreatic carcinoma is associated with one of the worst clinical outcomes throughout the globe because of its aggressive, metastatic, and drug-resistant nature. During the past decade, several studies have shown that oral, gut, and tumor microbiota play a critical role in the modulation of metabolism and immune responses. Growing pieces of evidence have proved beyond a doubt that the microbiota has a unique ability to influence the tumor microenvironment as well as the metabolism of chemotherapeutic agents or drugs. Given this, microbiota, known as the ecological community of microorganisms, stands to be an avenue of quality research. In this review, we provide detailed and critical information on the role of oral, gut, and pancreatic microbiota disruptions in the development of pancreatic carcinoma. Moreover, we comprehensively discuss the different types of microbiota, their potential role, and mechanism associated with pancreatic carcinoma. The microbiome provides the unique opportunity to enhance the effectiveness of chemotherapeutic agents and immunotherapies for pancreatic cancer by maintaining the right type of microbiota and holds a promising future to enhance the clinical outcomes of patients with pancreatic carcinoma.
- Published
- 2022
38. Multidimensional role of bacteria in cancer: Mechanisms insight, diagnostic, preventive and therapeutic potential
- Author
-
Hang Fai Kwok and Muhammad Jameel Mughal
- Subjects
0301 basic medicine ,Genome instability ,Cancer Research ,Disease ,Bioinformatics ,medicine.disease_cause ,03 medical and health sciences ,0302 clinical medicine ,Neoplasms ,Tumor Microenvironment ,medicine ,Humans ,Immune Evasion ,Inflammation ,Tumor microenvironment ,Bacteria ,biology ,business.industry ,Cancer ,medicine.disease ,biology.organism_classification ,Biomarker ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cancer cell ,Carcinogenesis ,business - Abstract
The active role of bacteria in oncogenesis has long been a topic of debate. Although, it was speculated to be a transmissible cause of cancer as early as the 16th-century, yet the idea about the direct involvement of bacteria in cancer development has only been explored in recent decades. More recently, several studies have uncovered the mechanisms behind the carcinogenic potential of bacteria which are inflammation, immune evasion, pro-carcinogenic metabolite production, DNA damage and genomic instability. On the other side, the recent development on the understanding of tumor microenvironment and technological advancements has turned this enemy into an ally. Studies using bacteria for cancer treatment and detection have shown noticeable effects. Therapeutic abilities of bioengineered live bacteria such as high specificity, selective cytotoxicity to cancer cells, responsiveness to external signals and control after ingestion have helped to overcome the challenges faced by conventional cancer therapies and highlighted the bacterial based therapy as an ideal approach for cancer treatment. In this review, we have made an effort to compile substantial evidence to support the multidimensional role of bacteria in cancer. We have discussed the multifaceted role of bacteria in cancer by highlighting the wide impact of bacteria on different cancer types, their mechanisms of actions in inducing carcinogenicity, followed by the diagnostic and therapeutic potential of bacteria in cancers. Moreover, we have also highlighted the existing gaps in the knowledge of the association between bacteria and cancer as well as the limitation and advantage of bacteria-based therapies in cancer. A better understanding of these multidimensional roles of bacteria in cancer can open up the new doorways to develop early detection strategies, prevent cancer, and develop therapeutic tactics to cure this devastating disease.
- Published
- 2022
39. Microbe-based therapies for colorectal cancer: Advantages and limitations
- Author
-
Ahmad Almatroudi, Ramesh C. Gupta, Shamama Javed, Ambreen Shoaib, Mohd Saeed, Raghuram Kandimalla, and Farrukh Aqil
- Subjects
Male ,0301 basic medicine ,Cancer Research ,Colorectal cancer ,Gut flora ,Bioinformatics ,03 medical and health sciences ,Dietary interventions ,0302 clinical medicine ,Human gut ,medicine ,Humans ,biology ,business.industry ,Probiotics ,Microbiota ,Cancer ,Fecal bacteriotherapy ,medicine.disease ,biology.organism_classification ,Gastrointestinal Microbiome ,Prebiotics ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cancer cell ,Female ,Lifetime risk ,Colorectal Neoplasms ,business - Abstract
Cancer is one of the leading global causes of death in both men and women. Colorectal cancer (CRC) alone accounts for ∼10 % of total new global cases and poses an over 4% lifetime risk of developing cancer. Recent advancements in the field of biotechnology and microbiology concocted novel microbe-based therapies to treat various cancers, including CRC. Microbes have been explored for human use since centuries, especially for the treatment of various ailments. The utility of microbes in cancer therapeutics is widely explored, and various bacteria, fungi, and viruses are currently in use for the development of cancer therapeutics. The human gut hosts about 100 trillion microbes that release their metabolites in active, inactive, or dead conditions. Microbial secondary metabolites, proteins, immunotoxins, and enzymes are used to target cancer cells to induce cell cycle arrest, apoptosis, and death. Various approaches, such as dietary interventions, the use of prebiotics and probiotics, and fecal microbiota transplantation have been used to modulate the gut microbiota in order to prevent or treat CRC pathogenesis. The present review highlights the role of the gut microbiota in CRC precipitation, the potential mechanisms and use of microorganisms as CRC biomarkers, and strategies to modulate microbiota for the prevention and treatment of CRC.
- Published
- 2022
40. Virus-inspired strategies for cancer therapy
- Author
-
Trang Hoang, Brett D. Hill, Xiao Yin Ma, and Fei Wen
- Subjects
0301 basic medicine ,Cancer Research ,viruses ,medicine.medical_treatment ,Bioinformatics ,Virus ,03 medical and health sciences ,0302 clinical medicine ,Neoplasms ,medicine ,Humans ,Virotherapy ,Repurposing ,Oncolytic Virotherapy ,business.industry ,Cancer ,Immunotherapy ,medicine.disease ,Tumor antigen ,Oncolytic virus ,Clinical trial ,Oncolytic Viruses ,030104 developmental biology ,030220 oncology & carcinogenesis ,Nanoparticles ,business - Abstract
The intentional use of viruses for cancer therapy dates back over a century. As viruses are inherently immunogenic and naturally optimized delivery vehicles, repurposing viruses for drug delivery, tumor antigen presentation, or selective replication in cancer cells represents a simple and elegant approach to cancer treatment. While early virotherapy was fraught with harsh side effects and low response rates, virus-based therapies have recently seen a resurgence due to newfound abilities to engineer and tune oncolytic viruses, virus-like particles, and virus-mimicking nanoparticles for improved safety and efficacy. However, despite their great potential, very few virus-based therapies have made it through clinical trials. In this review, we present an overview of virus-inspired approaches for cancer therapy, discuss engineering strategies to enhance their mechanisms of action, and highlight their application for overcoming the challenges of traditional cancer therapies.
- Published
- 2022
41. Inflammatory Molecular Mediators and Pathways Involved in Vascular Aging and Stroke: A Comprehensive Review
- Author
-
Pasuk Mahakkanukrauh, Amro M. Soliman, and Srijit Das
- Subjects
Pharmacology ,Aging ,business.industry ,Organic Chemistry ,Myocardial Infarction ,Inflammation ,Atherosclerosis ,medicine.disease ,Bioinformatics ,Biochemistry ,Stroke ,Pathogenesis ,Extant taxon ,Drug Discovery ,medicine ,Humans ,Molecular Medicine ,Vascular aging ,Myocardial infarction ,Inflammation Mediators ,medicine.symptom ,Signal transduction ,business - Abstract
There is an increase in the incidence of cardiovascular diseases with aging and it is one of the leading causes of death worldwide. The main cardiovascular pathologies include atherosclerosis, myocardial infarction, hypertension and stroke. Chronic inflammation is one of the significant contributors to the age-related vascular diseases. Therefore, it is important to understand the molecular mechanisms of the persistent inflammatory conditions occurring in the blood vessels as well as the signaling pathways involved. Herein, we performed an extant search of literature involving PubMed, ISI, WoS and Scopus databases for retrieving all relevant articles with the most recent findings illustrating the potential role of various inflammatory mediators along with their proposed activated pathways in the pathogenesis and progression of vascular aging. We also highlight the major pathways contributing to age-related vascular disorders. The outlined molecular mechanisms, pathways and mediators of vascular aging represent potential drug targets that can be utilized to inhibit and/or slow the pathogenesis and progression of vascular aging.
- Published
- 2022
42. Extracellular Matrix-Derived Hydrogels to Augment Dermal Wound Healing: A Systematic Review
- Author
-
Joris A van Dongen, Linda Vriend, Berend van der Lei, Martin C. Harmsen, Viktor Sinkunas, and Cristina Pires Camargo
- Subjects
IMPACT ,Angiogenesis ,Biomedical Engineering ,Bioengineering ,GELATIN HYDROGEL ,Bioinformatics ,Biochemistry ,Biomaterials ,Extracellular matrix ,angiogenesis ,REGENERATION ,Medicine ,GEL ,Wound Healing ,Decellularization ,integumentary system ,business.industry ,COST ,Treatment options ,STIFFNESS ,Hydrogels ,Extracellular Matrix ,Systematic review ,CELLS ,Self-healing hydrogels ,DECELLULARIZATION ,Augment ,business ,Wound healing - Abstract
Chronic, non-healing, dermal wounds form a worldwide medical problem with limited and inadequate treatment options and high societal burden and costs. With the advent of regenerative therapies exploiting extracellular matrix (ECM) components, its efficacy to augment wound healing is to be explored. This systematic review was performed to assess and compare the current therapeutic efficacy of ECM hydrogels on dermal wound healing. The electronic databases of Embase, Medline Ovid, and Cochrane Central were searched for in vivo and clinical studies on the therapeutic effect of ECM-composed hydrogels on dermal wound healing (April 13, 2021). Two reviewers selected studies independently. Studies were assessed based on ECM content, ECM hydrogel composition, additives, and wound healing outcomes, such as wound size, angiogenesis, and complications. Of the 2102 publications, 9 rodent-based studies were included while clinical studies were not published at the time of the search. Procedures to decellularize tissue or cultured cells and subsequently generate hydrogels were highly variable and in demand of standardization. ECM hydrogels with or without additives reduced wound size and also seem to enhance angiogenesis. Serious complications were not reported. To date, preclinical studies preclude to draw firm conclusions on the efficacy and working mechanism of ECM-derived hydrogels on dermal wound healing. The use of ECM hydrogels can be considered safe. Standardization of decellularization protocols and implementation of quality and cytotoxicity controls will enable obtaining a generic and comparable ECM product. Impact statementExtracellular matrix (ECM)-based hydrogels are biocompatible and harbor growth factors that can instruct tissue healing. Their application is a novelty in (pre)clinical wound healing treatment. This systematic review provides an overview of the current evidence for ECM hydrogels in enhancing wound healing and an extensive overview of the decellularization procedures used. Lastly, challenges and future directions to standardize decellularization procedures and implement quality controls are proposed.
- Published
- 2022
43. Valproate, obesity and other causes of clozapine poor metabolism in the context of rapid titration may explain clozapine-induced myocarditis: A re-analysis of a Turkish case series
- Author
-
Aygün Ertuğrul, A. Elif Anıl Yağcıoğlu, Esen Ağaoğlu, Ahmet Alp Karakaşlı, Sertaç Ak, M. Kâzım Yazıcı, and Jose de Leon
- Subjects
Inflammation ,Myocarditis ,business.industry ,Turkish ,Valproic Acid ,Context (language use) ,General Medicine ,Bioinformatics ,medicine.disease ,Obesity ,language.human_language ,Psychiatry and Mental health ,language ,Humans ,Medicine ,business ,Clozapine ,Antipsychotic Agents ,medicine.drug - Abstract
Clozapine-induced myocarditis or any clozapine-induced inflammation may be a hypersensitivity reaction due to titration that was too rapid for the patient's clozapine metabolism. Clozapine metabolism is influenced by ancestry, sex, smoking and the presence of confounders including obesity, infections, and inhibitors (e.g., valproate) causing the patient to behave as a clozapine poor metabolizer (PM). A published study in a Turkish hospital identified 1 case of clozapine-induced pancreatitis and hepatitis and 9 cases of clozapine-induced myocarditis. To explore the hypothesis that the 10 patients were clozapine PMs, their serum clozapine concentrations were investigated using concentration-to-dose (C/D) ratios and their titrations carefully reviewed.Dividing the trough serum concentration by the dose produces the clozapine C/D ratio. The dose required to reach 350ng/ml was considered the minimum therapeutic dosage and was used to classify patients according to clozapine PM status. Titration speed was assessed.All 10 patients were possibly clozapine PMs (3 of them had as minimum therapeutic doses: 72, 82 or 83mg/day). Nine of the 10 patients may have behaved as clozapine PMs due to obesity and/or valproate co-prescription during titration. One also had an undiagnosed infection. Of the 10 patients, 9 had at least 1 of 3 factors: too-rapid titration in the first or second weeks, or a final dosage that was too high.Future studies using clozapine levels and considering the role of clozapine PM status should explore whether or not all cases of clozapine-induced inflammation could be explained by lack of individualized titration.
- Published
- 2022
44. Patent Issued for Methods for processing next-generation sequencing genomic data (USPTO 11923049).
- Abstract
A patent has been issued to Sophia Genetics S.A. for methods of processing next-generation sequencing genomic data. Next-generation sequencing (NGS) has revolutionized biological research and diagnosis methodologies by allowing for the analysis of RNA expression profiling and whole genome sequencing. Targeted enrichment techniques, such as probe-based hybridization or PCR-based exon enrichment, have been developed to focus on specific gene variants associated with certain illnesses. The patent describes a computer-implemented method for analyzing NGS genomic data, including aligning raw sequencing data, refining alignment data, and identifying genomic variants. The goal is to automate and optimize NGS workflows to improve the specificity and sensitivity of genomic analysis in clinical practice. [Extracted from the article]
- Published
- 2024
45. Kruppel-like factor 4, a potential therapeutic agent for colorectal cancer: A bioinformatics analysis.
- Abstract
Colorectal cancer is a significant and deadly form of cancer, and new treatment strategies and prognostic markers are needed. This study used bioinformatics analysis to identify differentially expressed genes and interaction networks in colorectal cancer. The Kruppel-like factor 4 (KLF4) gene was identified as a potential biomarker and drug target, as it showed a positive correlation with immune cells and was associated with poor prognosis. However, further experiments are needed to validate its role as a biomarker. Targeting the KLF4 gene with small-molecule inhibitors may be an effective strategy for early diagnosis and treatment of colorectal cancer. [Extracted from the article]
- Published
- 2024
46. Investigating Viruses in Cells Used to Make Vaccines; and Evaluating the Potential Threat Posed by Transmission of Viruses to Humans.
- Subjects
DNA virus diseases ,VIRUS diseases ,ONCOGENIC viruses ,ENDOGENOUS retroviruses ,SEXUALLY transmitted diseases - Published
- 2024
47. Patent Application Titled "Methods of Preparing Directional Tagmentation Sequencing Libraries Using Transposon-Based Technology with Unique Molecular Identifiers for Error Correction" Published Online (USPTO 20240026348).
- Abstract
A patent application titled "Methods of Preparing Directional Tagmentation Sequencing Libraries Using Transposon-Based Technology with Unique Molecular Identifiers for Error Correction" has been published by the US Patent and Trademark Office. The application, filed by inventors from Cambridge, San Diego, and Madison, describes methods for creating nucleic acid sequencing libraries using transposon-based technology. These methods involve using Unique Molecular Identifiers (UMIs) to reduce errors in next-generation sequencing data. The patent application is owned by Illumina Inc. and provides detailed information on the steps and components involved in the methods. [Extracted from the article]
- Published
- 2024
48. Patent Issued for Contiguity preserving transposition (USPTO 11873480).
- Published
- 2024
49. Patent Issued for Nucleic acid sample enrichment for sequencing applications (USPTO 11866780).
- Abstract
A patent has been issued to Illumina Cambridge Limited for a method of nucleic acid sample enrichment for sequencing applications. The invention aims to reduce the cost of DNA sequencing by reducing the sequence complexity of genomic DNA samples. The patent describes a composition comprising an array of nucleic acid features that can be selectively enriched for sequences of interest and then sequenced. This targeted sequencing approach provides an alternative to whole genome sequencing and can be used to analyze genetic diversity in specific regions of the genome. [Extracted from the article]
- Published
- 2024
50. The Alliance for Genomic Discovery welcomes Bristol Myers Squibb, GSK, and Novo Nordisk.
- Subjects
INFORMATION technology ,DRUG discovery - Abstract
Illumina Inc., in collaboration with Nashville Biosciences, LLC, has announced that Bristol Myers Squibb, GSK, and Novo Nordisk have joined the Alliance for Genomic Discovery (AGD). These pharmaceutical companies will co-fund the whole-genome sequencing of 250,000 DNA samples and have access to the resulting data for drug discovery and therapeutic development. The AGD aims to generate and analyze genomic data to identify therapeutic targets and improve the efficiency of the discovery and development process. The AGD has already completed the sequencing of approximately 86,000 DNA samples and is using large-scale analysis tools to identify disease associations and drug targets. [Extracted from the article]
- Published
- 2024
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