Health Information Science and Systems

Early and accurate diagnosis of osteosarcomas (OS) is of great clinical significance, and machine learning (ML) based methods are increasingly adopted. However, current ML-based methods for osteosarcoma diagnosis consider only X-ray images, usually fail to generalize to new cases, and lack explainability. In this paper, we seek to explore the capability of deep learning models in diagnosing primary OS, with higher accuracy, explainability, and generality. Concretely, we analyze the added value of integrating the biochemical data, i...

The prediction of drug-target interactions (DTI) is a crucial preliminary stage in drug discovery and development, given the substantial risk of failure and the prolonged validation period associated with in vitro and in vivo experiments. In the contemporary landscape, various machine learning-based methods have emerged as indispensable tools for DTI prediction. This paper begins by placing emphasis on the data representation employed by these methods, delineating five representations for drugs and four for proteins...

PURPOSE: To explore the biliary and duodenal microbiota features associated with the formation and recurrence of choledocholithiasis (CDL). METHODS: We prospectively recruited patients with primary (P-CDL, n = 29) and recurrent CDL (R-CDL, n = 27) for endoscopic retrograde cholangiopancreatography (ERCP). Duodenal mucosa (DM), bile and bile duct stones (BDS) samples were collected in P- and R-CDL patients. DM samples were also collected in 8 healthy controls (HC)...

This paper considers a new method for providing a recommendation (second opinion) for a laboratory assistant in manual blood typing based on serological plates. The manual method consists of two steps: preparation and analysis. During preparation step the laboratory assistant needs to fill each well of a plate with a blood sample and a reagent mixture according to methodological guidelines. In the second step it is necessary to visually determine the result of the reactions, named agglutination. Despite the popularity of this method, it is slow and highly influenced by human factor, which cause blood typing errors...

According to the World Health Organization (WHO) data from 2000 to 2019, the number of people living with Diabetes Mellitus and Chronic Kidney Disease (CKD) is increasing rapidly. It is observed that Diabetes Mellitus increased by 70% and ranked in the top 10 among all causes of death, while the rate of those who died from CKD increased by 63% and rose from the 13th place to the 10th place. In this work, we combined the drug dose prediction model, drug-drug interaction warnings and drugs that potassium raising (K-raising) warnings to create a novel and effective ontology-based assistive prescription recommendation system for patients having both Type-2 Diabetes Mellitus (T2DM) and CKD...

PURPOSE: To investigate the association between DNA methylation and childhood simple obesity. METHODS: Genome-wide analysis of DNA methylation was conducted on peripheral blood samples from 41 children with simple obesity and 31 normal controls to identify differentially methylated sites (DMS). Subsequently, gene functional analysis of differentially methylated genes (DMGs) was carried out. After screening the characteristic DMGs based on specific conditions, the methylated levels of these DMS were evaluated and verified by pyrosequencing...

Alzheimer's disease is an incurable neurological disorder that damages cognitive abilities, but early identification reduces the symptoms significantly. The absence of competent healthcare professionals has made automatic identification of Alzheimer's disease more crucial since it lessens the amount of work for staff members and improves diagnostic outcomes. The major aim of this work is "to develop a computer diagnostic scheme that makes it possible to identify AD using the Electroencephalogram (EEG) signal"...

Diabetes mellitus has been regarded as one of the prime health issues in present days, which can often lead to diabetic retinopathy, a complication of the disease that affects the eyes, causing loss of vision. For precisely detecting the condition's existence, clinicians are required to recognise the presence of lesions in colour fundus images, making it an arduous and time-consuming task. To deal with this problem, a lot of work has been undertaken to develop deep learning-based computer-aided diagnosis systems that assist clinicians in making accurate diagnoses of the diseases in medical images...

The utilization of lung sounds to diagnose lung diseases using respiratory sound features has significantly increased in the past few years. The Digital Stethoscope data has been examined extensively by medical researchers and technical scientists to diagnose the symptoms of respiratory diseases. Artificial intelligence-based approaches are applied in the real universe to distinguish respiratory disease signs from human pulmonary auscultation sounds. The Deep CNN model is implemented with combined multi-feature channels (Modified MFCC, Log Mel, and Soft Mel) to obtain the sound parameters from lung-based Digital Stethoscope data...

BACKGROUND: Radiomics-based morphological brain networks (radMBN) constructed from routinely acquired structural MRI (sMRI) data have gained attention in Alzheimer's disease (AD). However, the radMBN suffers from limited characterization of AD because sMRI only characterizes anatomical changes and is not a direct measure of neuronal pathology or brain activity. PURPOSE: To establish a group sparse representation of the radMBN under a joint constraint of group-level white matter fiber connectivity and individual-level sMRI regional similarity (JCGS-radMBN)...

Pulmonary Embolism (PE) is a life-threatening clinical disease with no specific clinical symptoms and Computed Tomography Angiography (CTA) is used for diagnosis. Clinical decision support scoring systems like Wells and rGeneva based on PE risk factors have been developed to estimate the pre-test probability but are underused, leading to continuous overuse of CTA imaging. This diagnostic study aimed to propose a novel approach for efficient management of PE diagnosis using a two-step interconnected machine learning framework directly by analyzing patients' Electronic Health Records data...

UNLABELLED: Cancer is a complex gene mutation disease that derives from the accumulation of mutations during somatic cell evolution. With the advent of high-throughput technology, a large amount of omics data has been generated, and how to find cancer-related driver genes from a large number of omics data is a challenge. In the early stage, the researchers developed many frequency-based driver genes identification methods, but they could not identify driver genes with low mutation rates well...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. ASD cannot be fully cured, but early-stage diagnosis followed by therapies and rehabilitation helps an autistic person to live a quality life. Clinical diagnosis of ASD symptoms via questionnaire and screening tests such as Autism Spectrum Quotient-10 (AQ-10) and Quantitative Check-list for Autism in Toddlers (Q-chat) are expensive, inaccessible, and time-consuming processes. Machine learning (ML) techniques are beneficial to predict ASD easily at the initial stage of diagnosis...

PURPOSE: The main aim of our study was to explore the utility of artificial intelligence (AI) in diagnosing autism spectrum disorder (ASD). The study primarily focused on using machine learning (ML) and deep learning (DL) models to detect ASD potential cases by analyzing text inputs, especially from social media platforms like Twitter. This is to overcome the ongoing challenges in ASD diagnosis, such as the requirement for specialized professionals and extensive resources. Timely identification, particularly in children, is essential to provide immediate intervention and support, thereby improving the quality of life for affected individuals...

Diagnosis prediction, a key factor in enhancing healthcare efficiency, remains a focal point in clinical decision support research. However, the time-series, sparse and multi-noise characteristics of electronic health record (EHR) data make it a great challenge. Existing methods commonly address these issues using RNNs and incorporating medical prior knowledge from medical knowledge bases, but they neglect the local spatial characteristics and spatial-temporal correlation of the data. Consequently, we propose MDPG, a diagnosis prediction model based on patient knowledge graphs...

Advances in computer science in combination with the next-generation sequencing have introduced a new era in biology, enabling advanced state-of-the-art analysis of complex biological data. Bioinformatics is evolving as a union field between computer Science and biology, enabling the representation, storage, management, analysis and exploration of many types of data with a plethora of machine learning algorithms and computing tools. In this study, we used machine learning algorithms to detect differentially expressed genes between different types of cancer and showing the existence overlap to final results from RNA-sequencing analysis...

Cancer is one of the most deadly diseases in the world. Accurate cancer subtype classification is critical for patient diagnosis, treatment, and prognosis. Ever-increasing multi-omics data describes the characteristics of the patients from different views and serves as complementary information to promote cancer subtype identification. However, omics data generally have different distributions and high dimensions. How to effectively integrate multiple omics data to classify cancer subtypes accurately is a challenge for researchers...

PURPOSE: Early-stage lung cancer is typically characterized clinically by the presence of isolated lung nodules. Thousands of cases are examined each year, and one case usually contains numerous lung CT slices. Detecting and classifying early microscopic lung nodules is demanding due to their diminutive dimensions and restricted characterization capabilities. Therefore, a lung nodule classification model that performs well and is sensitive to microscopic lung nodules is needed to accurately classify lung nodules...

PURPOSE: In the brain-computer interface (BCI), motor imagery (MI) could be defined as the Electroencephalogram (EEG) signals through imagined movements, and ultimately enabling individuals to control external devices. However, the low signal-to-noise ratio, multiple channels and non-linearity are the essential challenges of accurate MI classification. To tackle these issues, we investigate the role of adaptive frequency bands selection and spatial-temporal feature learning in decoding motor imagery...

Electroencephalograph (EEG) has been a reliable data source for building brain-computer interface (BCI) systems; however, it is not reasonable to use the feature vector extracted from multiple EEG channels and frequency bands to perform recognition directly due to the two deficiencies. One is that EEG data is weak and non-stationary, which easily causes different EEG samples to have different quality. The other is that different feature dimensions corresponding to different brain regions and frequency bands have different correlations to a certain mental task, which is not sufficiently investigated...