With the development of modern high-throughput omic measurement platforms, it has become essential for biomedical studies to undertake an integrative (combined) approach to fully utilise these data ...to gain insights into biological systems. Data from various omics sources such as genetics, proteomics, and metabolomics can be integrated to unravel the intricate working of systems biology using machine learning-based predictive algorithms. Machine learning methods offer novel techniques to integrate and analyse the various omics data enabling the discovery of new biomarkers. These biomarkers have the potential to help in accurate disease prediction, patient stratification and delivery of precision medicine. This review paper explores different integrative machine learning methods which have been used to provide an in-depth understanding of biological systems during normal physiological functioning and in the presence of a disease. It provides insight and recommendations for interdisciplinary professionals who envisage employing machine learning skills in multi-omics studies.
•Machine learning methods are novel techniques to integrate omics datasets•Recently, publications based on ‘multi-omics integration’ have gained popularity•Integration of omics data using concatenation, model- or transformation-based methods•Multi-omics studies offer a more comprehensive view of complex diseases•Recommendation flowchart included for interdisciplinary professionals
The use of 2D alpha-shapes (α-shapes) to quantify morphological features of the retinal microvasculature could lead to imaging biomarkers for proliferative diabetic retinopathy (PDR). We tested our ...approach using the MESSIDOR dataset that consists of colour fundus photographs from 547 healthy individuals, 149 with mild diabetic retinopathy (DR), 239 with moderate DR, 199 pre-PDR and 53 PDR. The skeleton (centrelines) of the automatically segmented retinal vasculature was represented as an α-shape and the proposed parameters, complexity (Formula: see text), spread (OpA), global shape (VS) and presence of abnormal angiogenesis (Grad
) were computed. In cross-sectional analysis, individuals with PDR had a lower Formula: see text, OpA and Grad
indicating a vasculature that is more complex, less spread (i.e. dense) and the presence of numerous small vessels. The results show that α-shape parameters characterise vascular abnormalities predictive of PDR (AUC 0.73; 95% CI 0.73 0.74) and have therefore potential to reveal changes in retinal microvascular morphology.
Advanced machine learning methods might help to identify dementia risk from neuroimaging, but their accuracy to date is unclear.
We systematically reviewed the literature, 2006 to late 2016, for ...machine learning studies differentiating healthy aging from dementia of various types, assessing study quality, and comparing accuracy at different disease boundaries.
Of 111 relevant studies, most assessed Alzheimer's disease versus healthy controls, using AD Neuroimaging Initiative data, support vector machines, and only T1-weighted sequences. Accuracy was highest for differentiating Alzheimer's disease from healthy controls and poor for differentiating healthy controls versus mild cognitive impairment versus Alzheimer's disease or mild cognitive impairment converters versus nonconverters. Accuracy increased using combined data types, but not by data source, sample size, or machine learning method.
Machine learning does not differentiate clinically relevant disease categories yet. More diverse data sets, combinations of different types of data, and close clinical integration of machine learning would help to advance the field.
•Systematic review of machine learning methods of neuroimaging was performed.•Machine learning to predict risk of dementia does not seem ready for clinical use.•Methods have high accuracy to differentiate Alzheimer's disease versus healthy control.•Performances were poorer when assessing more clinically relevant distinctions.
Microvascular haemodynamic alterations are associated with coronary artery disease (CAD). The conjunctival microcirculation can easily be assessed non-invasively. However, the microcirculation of the ...conjunctiva has not been previously explored in clinical algorithms aimed at identifying patients with CAD. This case-control study involved 66 patients with post-myocardial infarction and 66 gender-matched healthy controls. Haemodynamic properties of the conjunctival microcirculation were assessed with a validated iPhone and slit lamp-based imaging tool. Haemodynamic properties were extracted with semi-automated software and compared between groups. Biomarkers implicated in the development of CAD were assessed in combination with conjunctival microcirculatory parameters. The conjunctival blood vessel parameters and biomarkers were used to derive an algorithm to aid in the screening of patients for CAD. Conjunctival blood velocity measured in combination with the blood biomarkers (N-terminal pro-brain natriuretic peptide and adiponectin) had an area under receiver operator characteristic curve (AUROC) of 0.967, sensitivity 93.0%, specificity 91.5% for CAD. This study demonstrated that the novel algorithm which included a combination of conjunctival blood vessel haemodynamic properties, and blood-based biomarkers could be used as a potential screening tool for CAD and should be validated for potential utility in asymptomatic individuals.
To investigate the associations between retinal vessel parameters and normal-tension glaucoma (NTG). We conducted a case-control study with a prospective cohort, allowing to record 23 cases of NTG. ...We matched NTG patient with one primary open-angle glaucoma (POAG) and one control per case by age, systemic hypertension, diabetes, and refraction. Central retinal artery equivalent (CRAE), central retinal venule equivalent (CRVE), Arteriole-To-Venule ratio (AVR), Fractal Dimension and tortuosity of the vascular network were measured using VAMPIRE software. Our sample consisted of 23 NTG, 23 POAG, and 23 control individuals, with a median age of 65 years (25-75th percentile, 56-74). No significant differences were observed in median values for CRAE (130.6 µm (25-75th percentile, 122.8; 137.0) for NTG, 128.4 µm (124.0; 132.9) for POAG, and 135.3 µm (123.3; 144.8) for controls, P = .23), CRVE (172.1 µm (160.0; 188.3), 172.8 µm (163.3; 181.6), and 175.9 µm (167.6; 188.4), P = .43), AVR (0.76, 0.75, 0.74, P = .71), tortuosity and fractal parameters across study groups. Vascular morphological parameters were not significantly associated with retinal nerve fiber layer thickness or mean deviation for the NTG and POAG groups. Our results suggest that vascular dysregulation in NTG does not modify the architecture and geometry of the retinal vessel network.
Microcirculatory dysfunction occurs early in cardiovascular disease (CVD) development. Acute myocardial infarction (MI) is a late consequence of CVD. The conjunctival microcirculation is ...readily-accessible for quantitative assessment and has not previously been studied in MI patients. We compared the conjunctival microcirculation of acute MI patients and age/sex-matched healthy controls to determine if there were differences in microcirculatory parameters. We acquired images using an iPhone 6s and slit-lamp biomicroscope. Parameters measured included diameter, axial velocity, wall shear rate and blood volume flow. Results are for all vessels as they were not sub-classified into arterioles or venules. The conjunctival microcirculation was assessed in 56 controls and 59 inpatients with a presenting diagnosis of MI. Mean vessel diameter for the controls was 21.41 ± 7.57 μm compared to 22.32 ± 7.66 μm for the MI patients (p < 0.001). Axial velocity for the controls was 0.53 ± 0.15 mm/s compared to 0.49 ± 0.17 mm/s for the MI patients (p < 0.001). Wall shear rate was higher for controls than MI patients (162 ± 93 s
vs 145 ± 88 s
, p < 0.001). Blood volume flow did not differ significantly for the controls and MI patients (153 ± 124 pl/s vs 154 ± 125 pl/s, p = 0.84). This pilot iPhone and slit-lamp assessment of the conjunctival microcirculation found lower axial velocity and wall shear rate in patients with acute MI. Further study is required to correlate these findings further and assess long-term outcomes in this patient group with a severe CVD phenotype.
Research has suggested that the retinal vasculature may act as a surrogate marker for diseased cerebral vessels. Retinal vascular parameters were measured using Vessel Assessment and Measurement ...Platform for Images of the Retina (VAMPIRE) software in two cohorts: (i) community-dwelling older subjects of the Lothian Birth Cohort 1936 (n = 603); and (ii) patients with recent minor ischaemic stroke of the Mild Stroke Study (n = 155). Imaging markers of small vessel disease (SVD) (white matter hyperintensities WMH on structural MRI, visual scores and volume; perivascular spaces; lacunes and microbleeds), and vascular risk measures were assessed in both cohorts. We assessed associations between retinal and brain measurements using structural equation modelling and regression analysis. In the Lothian Birth Cohort 1936 arteriolar fractal dimension accounted for 4% of the variance in WMH load. In the Mild Stroke Study lower arteriolar fractal dimension was associated with deep WMH scores (odds ratio OR 0.53; 95% CI, 0.32-0.87). No other retinal measure was associated with SVD. Reduced fractal dimension, a measure of vascular complexity, is related to SVD imaging features in older people. The results provide some support for the use of the retinal vasculature in the study of brain microvascular disease.
Vessel segmentation in fundus images permits understanding retinal diseases and computing image-based biomarkers. However, manual vessel segmentation is a time-consuming process. Optical coherence ...tomography angiography (OCT-A) allows direct, non-invasive estimation of retinal vessels. Unfortunately, compared to fundus images, OCT-A cameras are more expensive, less portable, and have a reduced field of view. We present an automated strategy relying on generative adversarial networks to create vascular maps from fundus images without training using manual vessel segmentation maps. Further post-processing used for standard en face OCT-A allows obtaining a vessel segmentation map. We compare our approach to state-of-the-art vessel segmentation algorithms trained on manual vessel segmentation maps and vessel segmentations derived from OCT-A. We evaluate them from an automatic vascular segmentation perspective and as vessel density estimators, i.e., the most common imaging biomarker for OCT-A used in studies. Using OCT-A as a training target over manual vessel delineations yields improved vascular maps for the optic disc area and compares to the best-performing vessel segmentation algorithm in the macular region. This technique could reduce the cost and effort incurred when training vessel segmentation algorithms. To incentivize research in this field, we will make the dataset publicly available to the scientific community.
Optical colonoscopy is the gold standard procedure to detect colorectal cancer, the fourth most common cancer in the United Kingdom. Up to 22%-28% of polyps can be missed during the procedure that is ...associated with interval cancer. A vision-based autonomous soft endorobot for colonoscopy can drastically improve the accuracy of the procedure by inspecting the colon more systematically with reduced discomfort. A three-dimensional understanding of the environment is essential for robot navigation and can also improve the adenoma detection rate. Monocular depth estimation with deep learning methods has progressed substantially, but collecting ground-truth depth maps remains a challenge as no 3D camera can be fitted to a standard colonoscope. This work addresses this issue by using a self-supervised monocular depth estimation model that directly learns depth from video sequences with view synthesis. In addition, our model accommodates wide field-of-view cameras typically used in colonoscopy and specific challenges such as deformable surfaces, specular lighting, non-Lambertian surfaces, and high occlusion. We performed qualitative analysis on a synthetic data set, a quantitative examination of the colonoscopy training model, and real colonoscopy videos in near real-time.
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