Low cost diagnostics

RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or absent expression of a significant number of disease-associated genes/transcripts in clinically accessible samples. As this is especially problematic in neurological diseases, we developed a clinical diagnostic approach that enhanced the detection and evaluation of tissue-specific genes/transcripts through fibroblast-to-neuron cell transdifferentiation...

Exponential DNA amplification techniques are fundamental in ultrasensitive molecular diagnostics. These systems offer a wide dynamic range, but the quantification requires real-time monitoring of the amplification reaction. Linear amplification schemes, despite their limited sensitivity, can achieve quantitative measurement from a single end-point readout, suitable for low-cost, point-of-care, or massive testing. Reconciling the sensitivity of exponential amplification with the simplicity of end-point readout would thus break through a major design dilemma and open a route to a new generation of massively scalable quantitative bioassays...

Extracellular vesicles (EVs) have garnered much interest due to their fundamental role in intracellular communication and their potential utility in clinical diagnostics and as biotherapeutic vectors. Of particular relevance is the subset of EVs referred to as exosomes, ranging in size from 30 to 150 nm, which contain incredible amounts of information about their cell of origin, which can be used to track the progress of disease. As a complementary action, exosomes can be engineered with therapeutic cargo to selectively target diseases...

OBJECTIVE: The aim of this study was to evaluate and compare reliability, costs, and radiation dose of dual-energy X-ray absorptiometry (DXA) to MRI and CT in measuring muscle mass for the diagnosis of sarcopenia. METHODS: Thirty-four consecutive DXA scans performed in surgically menopausal women from November 2019 until March 2020 were analyzed by two observers. Observers analyzed muscle mass of the lower limbs in every scan twice. Reliability was assessed by calculating inter- and intra-observer variability...

BACKGROUND: Diagnosing mediastinal tumours, including incidental lesions, using low-dose CT (LDCT) performed for lung cancer screening, is challenging. It often requires additional invasive and costly tests for proper characterisation and surgical planning. This indicates the need for a more efficient and patient-centred approach, suggesting a gap in the existing diagnostic methods and the potential for artificial intelligence technologies to address this gap. This study aimed to create a multimodal hybrid transformer model using the Vision Transformer that leverages LDCT features and clinical data to improve surgical decision-making for patients with incidentally detected mediastinal tumours...

BACKGROUND: Human cytomegalovirus (HCMV) is a common herpesvirus that can cause a range of symptoms, from mild conditions such as fevers to severe illnesses like pneumonia. Early and accurate diagnosis of HCMV infection is crucial, particularly for vulnerable populations with limited medical care. However, current diagnostic methods are often expensive, time-consuming, and require skilled technicians. MATERIALS AND METHODS: We developed an HCMV-RPA-CRISPR diagnosis platform for the rapid and cost-effective detection of HCMV infection...

BACKGROUND: Precision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the promoter, intronic regions and the mitochondrial genome. However, the data on use of WGS to evaluate the genetic cause of these cardiovascular conditions in children and adolescents are limited. METHODS: In a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who had negative genetic findings with prior gene panel or exome-based testing...

BACKGROUND AND OBJECTIVES: Among health care providers (HCPs), neurologists have one of the highest rates of burnout in the United States, compromising the quality and accessibility of patient care. Patients with refractory epilepsy are especially challenging to treat. This study aims to understand the burnout level in neurologists treating patients with refractory epilepsy and identify key contributing factors. METHODS: US board-certified pediatric/adult neurologists who devote ≥50% of their time to clinical practice and treat ≥10 unique patients with refractory epilepsy annually were invited to take a noninterventional quantitative survey, designed to capture key elements of the HCP's background, burnout level, current practice, burden domains, and satisfaction with current antiseizure medications (ASMs)...

AIM AND BACKGROUND: Automated perimetry plays an important role in the diagnosis and monitoring of glaucoma patients. The purpose of this study is to prospectively determine parity between Humphrey visual field analyzer (HVFA) perimetry (the current gold standard) and the VisuALL virtual reality perimeter (VRP). MATERIALS AND METHODS: In this prospective fully paired diagnostic accuracy study, patients with stable, long-term HVFA visual fields (horizontal dots for ≥4 consecutive visits on progression analysis) with preperimetric, mild, moderate, or severe visual field loss were familiarized with the VRP and then tested using its proprietary software...

Background and study aims Digital single-operator cholangioscopy (DSOC) allows the diagnosis of biliary duct disorders and treatment for complicated stones. However, these technologies have limitations such as the size of the probe and working channel, excessive cost, and low image resolution. Recently, a novel DSOC system (eyeMAX, Micro-Tech, Nanjing, China) was developed to address these limitations. We aimed to evaluate the usefulness and safety of a novel 9F and 11F DSOC system in terms of neoplastic diagnostic accuracy based on visual examination, ability to evaluate tumor extension and to achieve complete biliary stone clearance, and procedure-related adverse events (AEs)...

INTRODUCTION: Traumatic Brain Injury (TBI) is a highly prevalent and potentially severe medical condition. Challenges regarding TBI management are related to accurate diagnostics, defining its severity and establishing prompt interventions in order to impact outcomes. Among the healthcare components in TBI handling strategy is intracranial pressure (ICP) monitoring, which is fundamental to therapy decisions. However, ICP monitoring is an Aquiles tendon, imposing a significant financial burden on healthcare systems, particularly in middle and low-income communities...

X-rays, commonly used in clinical settings, offer advantages such as low radiation and cost-efficiency. However, their limitation lies in the inability to distinctly visualize overlapping organs. In contrast, Computed Tomography (CT) scans provide a three-dimensional view, overcoming this drawback but at the expense of higher radiation doses and increased costs. Hence, from both the patient's and hospital's standpoints, there is substantial medical and practical value in attempting the reconstruction from two-dimensional X-ray images to three-dimensional CT images...

In the medical field, extracellular vesicles (EVs) are gaining importance as they act as cells mediators. These are phospholipid bilayer vesicles and contain crucial biochemical information about their mother cells being carrier of different biomolecules such as small molecules, proteins, lipids, and nucleic acids. After release into the extracellular matrix, they enter the systemic circulation and can be found in all human biofluids. Since EVs reflect the state of the cell of origin, there is exponential attention as potential source of new circulating biomarkers for liquid biopsy...

UNLABELLED: There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of genotype-phenotype correlation. A prospective, institution-based, observational study was conducted at the Department of Paediatric Medicine, including 103 children aged up to 12 years...

Electrochemical biosensors have emerged as a promising technology for cancer detection due to their high sensitivity, rapid response, low cost, and capability for non-invasive detection. Recent advances in nanomaterials like nanoparticles, graphene, and nanowires have enhanced sensor performance to allow for cancer biomarker detection, like circulating tumor cells, nucleic acids, proteins and metabolites, at ultra-low concentrations. However, several challenges need to be addressed before electrochemical biosensors can be clinically implemented...

Fine needle aspiration biopsy (FNAB) in low- and middle-income countries (LMIC), can provide minimally invasive, cost-effective tissue diagnosis with rapid assessment and specimen triage, which is advantageous in these resource-limited settings. Nevertheless, challenges such as equipment shortages, reagents, and lack of trained personnel exist. This article discusses the effectiveness of FNAB for diagnosis of malignant and inflammatory conditions across various organs, such as lymph nodes, breast, soft tissue, and thyroid and advocates for increased training opportunities and collaboration with academic centers to enhance diagnostic accuracy and access to pathology services...

Traditional clinical modalities for diagnosing bladder urothelial carcinoma (BUC) remain limited due to their invasive nature, significant costs, discomfort associated with cystoscopy, and low sensitivity to urine cytology. Therefore, there is an urgent need to identify highly sensitive, specific, and noninvasive biomarkers for the early detection of this neoplasm. Hypermethylated TWIST1/Vimentin promoter may be a noninvasive biomarker using urine sample. We assessed the TWIST1/Vimentin promoter methylation status in urine samples using the Methylated Human TWIST1 and Vimentin Gene Detection Kit (Jiangsu MicroDiag Biomedicine Co...

Microfluidic techniques are widely applied in biomolecular analysis and disease diagnostic assays. While the volume of the sample that is directly used in such assays is often only femto-to microliters, the "dead volume" of solutions supplied in syringes and tubing can be much larger, even up to milliliters, increasing overall reagent use and making analysis significantly more expensive. To reduce the difficulty and cost, we designed a new chip using a low volume solution for analysis and applied it to obtain real-time data for protein-protein interaction measurements...

BACKGROUND: Despite global efforts to improve surgical care access, many low and middle-income countries, especially in neurosurgery, face significant shortages. The Gambia exemplifies this, with only one fully qualified neurosurgeon serving its population of 2.5 million people. This scarcity results in higher morbidity and mortality. OBJECTIVE: We aim to document the history and current state of neurosurgery in The Gambia to raise awareness and promote neurosurgery development...

UNLABELLED: Antigen-based rapid diagnostic tests (Ag-RDTs) were widely deployed to enhance SARS-CoV-2 testing capacity during the COVID-19 pandemic. Consistent with national guidance for low prevalence settings, positive Ag-RDTs were confirmed using nucleic acid amplification tests (NAATs) to avoid false positive results. However, increasing demands for positive Ag-RDT confirmation competed with other testing priorities in clinical laboratories. This work hypothesized that real-time RT-PCR without nucleic acid extraction (NAE) would be sufficiently sensitive to support positive Ag-RDT confirmation...