The ever-growing scope of diagnostic and therapeutic colonoscopy.
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ABSTRACT:
SUBMITTER: Aziz M
PROVIDER: S-EPMC11292100 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
Publications
The ever-growing scope of diagnostic and therapeutic colonoscopy.
Aziz Muhammad M Chandrasekar Viveksandeep Thoguluva VT
Translational gastroenterology and hepatology 20240617
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Project description:Deficiency of Adenosine Deaminase Type 2 (DADA2) is a rare autosomal recessive inherited disorder with a variable phenotype including generalized or cerebral vasculitis and bone marrow failure. It is caused by variations in the adenosine deaminase 2 gene (ADA2), which leads to decreased adenosine deaminase 2 enzyme activity. Here we present three instructive scenarios that demonstrate DADA2 spectrum characteristics and provide a clear and thorough diagnostic and therapeutic workflow for effective patient care. Patient 1 illustrates cerebral vasculitis in DADA2. Genetic analysis reveals a compound heterozygosity including the novel ADA2 variant, p.V325Tfs*7. In patient 2, different vasculitis phenotypes of the DADA2 spectrum are presented, all resulting from the homozygous ADA2 mutation p.Y453C. In this family, the potential risk for siblings is particularly evident. Patient 3 represents pure red cell aplasia with bone marrow failure in DADA2. Here, ultimately, stem cell transplantation is considered the curative treatment option. The diversity of the DADA2 spectrum often delays diagnosis and treatment of this vulnerable patient cohort. We therefore recommend early ADA2 enzyme activity measurement as a screening tool for patients and siblings at risk, and we expect early steroid-based remission induction will help avoid fatal outcomes.
| S-EPMC9237362 | biostudies-literature
Project description:Metagenomics analysis of biopsy-derived colonic and terminal ileal mucosa associated microbiota in healthy individuals from a population-based study
| PRJEB33194 | ENA
Project description:RNA was isolated from rectal biopsies from 190 pediatric patients undergoing diagnostic colonoscopy for inflammatory bowel diseases, including Crohn's disease and ulcerative colitis. Single-end, 75-bp sequencing was performed, and raw reads aligned to the human genome using Gencode v 24 as reference. We included 14085 protein-coding mRNA genes in downstream analyses, where cutoffs of fold change>1.5 and FDR<0.05 were considered significant.
2018-11-27 | GSE117993 | GEO
Project description:Danish centers reserve longer time for screening colonoscopies and allocate the most experienced endoscopists to these cases. The objective of this study is to determine the diagnostic yield in colonoscopies for different indications to improve planning of colonoscopy activity and allocation of the highly skilled endoscopists.Nine hundred and ninety-nine randomly collected patients from a prospectively maintained database were grouped in defined referral indication groups. Five groups were compared in respect of the detection rate of adenomas and cancers.Two hundred and eighty-nine of 1098 colonoscopies in 999 patients showed significant neoplastic findings, resulting in 591 adenoma resections. Eighty-five percent were treated with a snare resection, and 15% with endoscopic mucosa resection (EMR). Positive findings in the indication groups were (1) symptoms, 25%; (2) positive screening, 17%; (3) previous resection of adenomas, 45%; (4) previous resection of colorectal cancer, 15%; and (5) surveillance of patients with high-risk family history of cancer, 35%.The majority of adenomas found during colonoscopy can be treated with simple techniques. If individualized time slots are considered, the adenoma follow-up colonoscopies are likely to be the most time-consuming group with more than twice the number of adenomas detected as compared to other indications.
| S-EPMC5551535 | biostudies-other
Project description:The number and scope of methods developed to interrogate and use metabolic network reconstructions has significantly expanded over the past 15 years. In particular, Escherichia coli metabolic network reconstruction has reached the genome scale and been utilized to address a broad spectrum of basic and practical applications in five main categories: metabolic engineering, model-directed discovery, interpretations of phenotypic screens, analysis of network properties and studies of evolutionary processes. Spurred on by these accomplishments, the field is expected to move forward and further broaden the scope and content of network reconstructions, develop new and novel in silico analysis tools, and expand in adaptation to uses of proximal and distal causation in biology. Taken together, these efforts will solidify a mechanistic genotype-phenotype relationship for microbial metabolism.
| S-EPMC3108568 | biostudies-literature
Project description:BackgroundWe investigate the scope for selection at the level of nuclei within fungal individuals (mycelia) of the mutualistic Termitomyces cultivated by fungus-growing termites. Whereas in most basidiomycete fungi the number and kind of nuclei is strictly regulated to be two per cell, in Termitomyces mycelia the number of nuclei per cell is highly variable. We hypothesised that natural selection on these fungi not only occurs between mycelia, but also at the level of nuclei within the mycelium. We test this hypothesis using in vitro tests with five nuclear haplotypes of a Termitomyces species.ResultsFirst, we studied the transition from a mixture of five homokaryons (mycelia with identical nuclei) each with a different nuclear haplotype to heterokaryons (mycelia with genetically different nuclei). In vitro cultivation of this mixture for multiple asexual transfers led to the formation of multiple heterokaryotic mycelia, and a reduction of mycelial diversity over time. All heterokaryotic mycelia contained exactly two types of nucleus. The success of a heterokaryon during in vitro cultivation was mainly determined by spore production and to a lesser extent by mycelial growth rate. Second, heterokaryons invariably produced more spores than homokaryons implying that homokaryons will be outcompeted. Third, no homokaryotic 'escapes' from a heterokaryon via the formation of homokaryotic spores were found, despite extensive spore genotyping. Fourth, in contrast to most studied basidiomycete fungi, in Termitomyces sp. no nuclear migration occurs during mating, limiting the scope for nuclear competition within the mycelium.ConclusionsOur experiments demonstrate that in this species of Termitomyces the scope for selection at the level of the nucleus within an established mycelium is limited. Although 'mate choice' of a particular nuclear haplotype is possible during mating, we infer that selection primarily occurs between mycelia with two types of nucleus (heterokaryons).
| S-EPMC4085734 | biostudies-literature
Project description:Chondrocytes are the only cell type in cartilage and play a pivotal role in tissue homeostasis and cartilage remodeling in Osteoarthritis (OA). OA-dependent metabolic changes affecting extracelluar matrix composition as well as variations in the response to cytokines and growth factors have been investigated in human chondrocytes. However, the molecular mechanisms causing age-dependent variation of the chondrocyte phenotype are poorly characterized. The proinflammatory mediator nitric oxide (NO) is produced when chondrocytes are exposed to cytokines such as IL-1. NO affects the energy metabolism of cells through interfering with mitochondrial respiration and glycolysis and has been implicated in extracellular matrix synthesis and degradation and chondrocyte death. NO may contribute to the aging process by compromising the energy balance in chondrocytes through the generation of an oxidizing environment and this may in turn affect matrix gene expression. In human chondrocytes NO effects on the expression of extacelluar matrix genes or genes related to matrix structure have not been addressed comprehensively. In this study cultured chondrocytes from a single donor was either be left unstimulated (control) or stimulated with IL-1, L-NMMA or IL-1 L-NMMA for a period of 8 days in order to achieve sufficiently high levels of intracellular NO and stable expression of a subset of genes. Samples were hybridized and analyzed using the GLYCOv2 array. L-NMMA (NG-monomethyl-L-arginine) is a competitive inhibitor NO synthesis.
2011-02-17 | E-GEOD-27358 | biostudies-arrayexpress
Project description:Background and study aims Studies have linked cecal intubation rate with adenoma detection rate; however, the direct association between technical performance during colonoscopy intubation and withdrawal has never been explored. Thus, it remains unclear whether gentle and efficient intubation predicts superior mucosal inspection. The aim of this study was to investigate the correlation between performance during intubation and withdrawal in a simulation-based setup. Methods Twenty-four physicians with various experience in colonoscopy performed twice on the Endoscopy Training System (ETS). Intubation skills were evaluated by assessing tasks on the ETS related to intubation (scope manipulation and loop management) and use of a computerized assessment tool called the 3D-Colonoscopy Progression Score (3D-CoPS). Diagnostic accuracy was defined by the number of polyps found during the ETS task of mucosal inspection. Pearson's correlations were calculated to explore associations between intubation skill and diagnostic accuracy. Results The correlation analysis between 3D-CoPS and number of polyps found during mucosal inspection revealed a weak and insignificant correlation (0.157, P = 0.3). Likewise, an insignificant correlation was seen between ETS intubation and number of polyps found (0.149, P = 0.32). Conclusions We found no evidence to support that technical performance during intubation is correlated with mucosal inspection performance in a simulation-based setting.
| S-EPMC8759934 | biostudies-literature
Project description:BackgroundColonoscopy is the accepted gold standard for the detection of colorectal cancer. However, colonoscopy is less effective in preventing colon cancer in the right side compared with the left side.AimTo investigate the feasibility of a novel type of retroflexion colonoscope, EC-3490Ti colonoscope, for detection of proximal colon lesions.MethodsIn this prospective trial, we recruited patients who underwent colonoscopy for screening or surveillance. When the endoscopists could not grasp the whole observation of the right-side colon mucosa in the forward view (FV), insertion and withdrawal were repeatedly performed in the FV group with the EC38-i10F colonoscope while retroflexion was performed in the retroflexed view (RV) group with the EC-3490Ti colonoscope. Adenoma detection rate, the total number of adenomas per positive participant, the success rate of retroflexion, and endoscope withdrawal time were recorded and compared.ResultsThe total adenoma detection rate (39.3% vs 37.7%, P = 0.646) did not show any significant difference between the two groups. However, the polyp detection rate (59.6% vs 51.0%, P = 0.002), adenoma detection rate in the right colon (21.6% vs 14.4%, P = 0.012), and the total number of adenomas per positive participant (2.1 vs 1.7, P = 0.011) reached statistical significance. Retroflexion was achieved in 91.7% of our cohort. Compared with the FV group, the withdrawal time was significantly prolonged in the RV group (586.1 ± 124.4 s vs 508.8 ± 129.6 s, P < 0.001). In contrast, the proportion of additional ancillary pressure decreased (27.4% vs 45.7%, P < 0.001), and the visual analog scale pain scores did not increase (2.7 ± 1.4 vs 2.8 ± 1.4, P = 0.377).ConclusionRetroflexion in the proximal colon could be performed successfully and safely with the EC-3490Ti colonoscope. This maneuver could detect more adenomas effectively.
| S-EPMC7667455 | biostudies-literature