Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.
Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.
Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect due to their small sizes.
Methods: A custom comprehensive CMA (Baylor College of Medicine - BCM v11.
Hydrocephalus is a neurological disorder that impacts approximately 85 per 100,000 individuals worldwide and is associated with motor and cognitive impairments. While many advances in surgical interventions have helped substantially improve the survival rates and quality of life of those affected, there continues to be significant gaps in our understanding of the etiology of this heterogeneous condition as well as its specific neuropsychological and functional challenges across different phases of life. To address these limitations, the Hydrocephalus Association and Rudi Schulte Research Institute organized a workshop titled, "Improving Cognitive and Psychological Outcomes in Hydrocephalus", composed of top academics in the fields of hydrocephalus, cognition, and neuropsychology, as well as individuals with hydrocephalus or their caregivers.
View Article and Find Full Text PDFBackground: The Standards for Reporting of Diagnostic Accuracy (STARD) 2015 guideline facilitates evaluation of key aspects of diagnostic test accuracy (DTA) studies and their findings, including the risk of bias and applicability of findings.
Objective: To evaluate the completeness of reporting in medical imaging DTA research in a sample of studies published in 2023.
Materials And Methods: A systematic search of Medline, Embase and the Cochrane Library was performed to identify medical imaging DTA studies published between January - June 2023 that assessed one or more index imaging tests compared to a reference standard and reported test performance using relevant outcome measures.
HLA-compatibility remains an important triage test for deceased donor kidney allocation. Low-intermediate resolution donor HLA-typing is typically available at allocation, but its accuracy in assigning pre-transplant donor-specific anti-HLA antibody (DSA) and HLA mismatches compared to 2-field high-resolution typing is poorly characterised. Consecutive deceased donor/recipient pairs from a single centre between 2016 and 2020 were included.
View Article and Find Full Text PDFRadiography (Lond)
November 2024
Background: Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) has been increasingly utilized as a life-saving modality in patients with cardiopulmonary compromise. Acute limb ischemia (ALI) has been reported when the femoral artery was accessed, and it was associated with higher mortality in patients on extracorporeal membrane oxygenation (ECMO). However, prior studies were limited by small sample size and the lack of long-term follow-up.
View Article and Find Full Text PDFPurpose: This study evaluates the use of ChatGPT-4o in creating tailored continuing professional development (CPD) plans for radiography students, addressing the challenge of aligning CPD with Medical Radiation Practice Board of Australia (MRPBA) requirements. We hypothesized that ChatGPT-4o could support students in CPD planning while meeting regulatory standards.
Methods: A descriptive, experimental design was used to generate 3 unique CPD plans using ChatGPT-4o, each tailored to hypothetical graduate radiographers in varied clinical settings.
Introduction: Clinically significant post-endoscopic retrograde cholangiopancreatography (ERCP) bleeding (CSPEB) is common. Contemporary estimates of risk are lacking. We aimed to identify risk factors of and outcomes after CSPEB.
View Article and Find Full Text PDFJ Educ Eval Health Prof
October 2024
This study investigated the performance of ChatGPT-4.0o in evaluating the quality of positioning in radiographic images. Thirty radiographs depicting a variety of knee, elbow, ankle, hand, pelvis, and shoulder projections were produced using anthropomorphic phantoms and uploaded to ChatGPT-4.
View Article and Find Full Text PDFBackground: For asymptomatic individuals with a singleton pregnancy and a short cervix, vaginal progesterone significantly decreases the risk of PTB and improves perinatal outcomes. Cervical pessary is another option that has been evaluated with inconclusive results. There is, however, a lack of head-to-head comparisons between pessary and vaginal progesterone in this high risk population.
View Article and Find Full Text PDFNature preprograms sophisticated processes in operating molecular machines at the nanoscale, amplifying the molecular motion across multiple length-scales, and controlling movements in living organisms. Supramolecular soft robotics serve as a new alternative to hard robotics, are able to transform and amplify collective motions of the supramolecularly assembled molecular machines in attaining macroscopic motions, upon photoirradiation. By taking advantage of oriented supramolecular macroscopic soft scaffold, here the first rapid macroscopic movements of supramolecular robotic materials driven by visible light are presented.
View Article and Find Full Text PDFRadiography (Lond)
October 2024
Introduction: Varying radiation protection practices have been documented in the literature. This study aims to evaluate the attitudes and practices of dental radiography practitioners towards radiation protection in Jordan, as no data currently explores their understanding and practices in this area.
Methods: The survey involved 192 dental radiography practitioners.
Introduction: Survey or localiser radiographs are integral to CT imaging. However, the diverse functions and roles of the localiser radiograph are often obscure to radiographers and radiologists. This scoping review reports the full scope of localiser radiograph use and function in contemporary CT imaging.
View Article and Find Full Text PDFObjectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT).
Methods: This is a retrospective multi-center study of CNV analysis in 457 fetuses with ultrasound-detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746).
Objective: To assess the capability of determining the mixed chemical composition of urinary stones using spectral imaging properties of Dual Energy Computed Tomography (DECT) Gemstone Spectral Imaging (GSI) software.
Material And Methods: Twenty-six single and 24 mixed composition ex vivo urinary stones with known chemical composition determined by Fourier-transform infrared spectroscopy (FTIR) prior to this project were scanned with DECT imaging and GSI in vitro. The major components of the stones included Uric Acid (UA), Calcium Oxalate (CaOx), Calcium Phosphate (CaP), Magnesium Ammonium Phosphate (MAP), and Cystine (Cys).
Best Pract Res Clin Obstet Gynaecol
December 2024
Prenatal genetic diagnosis has undergone two pivotal paradigm shifts, initially with the introduction of chromosomal microarray and subsequently with the advent of next-generation sequencing technologies (NGS). NGS technology has given rise to a multitude of applications, with gene panels, exome sequencing (ES), and genome sequencing (GS) emerging as highly promising tests for prenatal genetic investigations. These advanced approaches have demonstrated superior diagnostic rates when compared to conventional testing methods, showcasing the evolution and enhancement of prenatal genetic screening and diagnostic capabilities.
View Article and Find Full Text PDFAs part of a program evaluation of the New York City Test & Trace program (T2)-one of the largest such programs in the USA-we conducted a study to assess how implementing organizations (NYC Health + Hospitals, government agencies, CBOs) communicated information about the T2 program on Twitter. Study aims were as follows: (1) quantify user engagement of posts ("tweets") about T2 by NYC organizations on Twitter and (2) examine the emotional tone of social media users' T2-related tweets in our sample of 1987 T2-related tweets. Celebrities and CBOs generated more user engagement (0.
View Article and Find Full Text PDFAim(s): To systematically review the existing literature and address the following research question: What are the most effective techniques used to minimise adverse effects resulting from subcutaneous injections of low-molecular-weight heparin among patients with cardiovascular diseases?
Design: A scoping review.
Methods: A comprehensive search was conducted across multiple databases, including CINAHL, PubMed, EMBASE and the Cochrane Library, from 1 February 2014 to 31 January 2024. Participants were aged 18 years or older, diagnosed with venous thromboembolism or arterial thromboembolism and had prescribed subcutaneous injections of low-molecular-weight heparin.
During infectious disease epidemics, accurate diagnostic testing is key to rapidly identify and treat cases, and mitigate transmission. When a novel pathogen is involved, building testing capacity and scaling testing services at the local level can present major challenges to healthcare systems, public health agencies, and laboratories. This mixed methods study examined lessons learned from the scale-up of SARS-CoV-2 testing services in New York City (NYC), as a core part of NYC's Test & Trace program.
View Article and Find Full Text PDFBackground: Post-endoscopic retrograde cholangiopancreatography (ERCP) adverse events (AEs) are common, as is unplanned healthcare utilization (UHU). We aimed to assess potential etiologic associations between intra-/post-procedural patient-reported experience measures (PREMs) and post-ERCP AEs and UHU. METHODS : Prospective data from a multicenter collaborative were used.
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