Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell-free DNA in the absence of first-trimester anatomical screening.
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal diagnosis"
DOI: 10.1002/pd.6224
Abstract: INTRODUCTION Since 2021 first-trimester anatomical screening (FTAS) is offered in the Netherlands alongside genome-wide-cell-free DNA. Previously, only second-trimester anatomical screening (STAS) was offered. This study identifies structural abnormalities amenable to first-trimester diagnosis detected at/after STAS… read more here.
Keywords: trimester anatomical; structural abnormalities; introduction; first trimester ... See more keywords
Patellar tendon enthesis abnormalities and their association with knee pain and structural abnormalities in older adults.
Sign Up to like & getrecommendations! Published in 2019 at "Osteoarthritis and cartilage"
DOI: 10.1016/j.joca.2018.11.009
Abstract: OBJECTIVE To describe associations between presence of patellar tendon enthesis (PTE) abnormalities and symptoms, structural abnormalities, and total knee replacement (TKR) in older adult cohort. METHODS PTE abnormalities (presence of abnormal bone signal and/or bone… read more here.
Keywords: presence; structural abnormalities; older adults; pte abnormalities ... See more keywords
Imaging of Structural Abnormalities of the Sacrum: The Old Faithful and Newly Emerging Techniques.
Sign Up to like & getrecommendations! Published in 2022 at "Seminars in musculoskeletal radiology"
DOI: 10.1055/s-0042-1754342
Abstract: The sacrum and sacroiliac joints pose a long-standing challenge for adequate imaging because of their complex anatomical form, oblique orientation, and posterior location in the pelvis, making them subject to superimposition. The sacrum and sacroiliac… read more here.
Keywords: imaging structural; structural abnormalities; abnormalities sacrum; faithful newly ... See more keywords
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2018.1522529
Abstract: Abstract Molecular diagnostic investigations, following the identification of foetal abnormalities, are routinely performed using array comparative genomic hybridisation (aCGH). Despite the utility of this technique, contemporary approaches for the detection of copy number variation are… read more here.
Keywords: array; copy number; structural abnormalities; next generation ... See more keywords
Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2025 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2025.2483421
Abstract: ABSTRACT Purpose To understand the retina micropathology in a family with a novel variant in VCAN. Methods Two sisters ages 16 (proband) and 18 years old and their 48-year-old father underwent comprehensive ophthalmic evaluations. Multimodal imaging… read more here.
Keywords: structural abnormalities; family; vcan variant; abnormalities associated ... See more keywords
Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2158052
Abstract: Abstract Purpose: We evaluated the obstetrical outcomes, ultrasonographic characteristics, and final diagnosis in pregnancies with fetal megacystis (FM). Methods: We evaluated the obstetrical outcomes and associated structural abnormalities of fetuses with FM detected between FM… read more here.
Keywords: megacystis; structural abnormalities; associated structural; megacystis associated ... See more keywords
Meta-analytical evidence of functional and structural abnormalities associated with pain processing in migraine patients: An activation likelihood estimation
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031206
Abstract: Background: Migraine is a primary headache disorder that causes debilitating throbbing pain. Several functional MRI (fMRI) and voxel-based morphometry (VBM) studies have been used to investigate the structural and functional alteration in migraine. Here, we… read more here.
Keywords: structural abnormalities; migraine patients; associated pain; migraine ... See more keywords
Identifying Refractory Epilepsy Without Structural Abnormalities by Fusing the Common Spatial Patterns of Functional and Effective EEG Networks
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Transactions on Neural Systems and Rehabilitation Engineering"
DOI: 10.1109/tnsre.2021.3071785
Abstract: Drug refractory epilepsy (RE) is believed to be associated with structural lesions, but some RE patients show no significant structural abnormalities (RE-no-SA) on conventional magnetic resonance imaging scans. Since most of the medically controlled epilepsy… read more here.
Keywords: functional effective; epilepsy; spn features; eeg ... See more keywords
Structural abnormalities of retinal pigment epithelial cells in a light-inducible, rhodopsin mutant mouse.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of anatomy"
DOI: 10.1111/joa.13667
Abstract: Retinal pigment epithelium (RPE) is a specialized pigmented monolayer dedicated to retinal support and protection. Given the fact that photoreceptor outer segments are the primary energy resource of RPE metabolism, it follows that, when photoreceptor… read more here.
Keywords: abnormalities retinal; retinal pigment; rpe cells; pigment epithelial ... See more keywords
Plasma NT-proBNP levels associated with cardiac structural abnormalities in asymptomatic health examinees with preserved ejection fraction: a retrospective cross-sectional study
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Open"
DOI: 10.1136/bmjopen-2018-026030
Abstract: Objectives Stage B heart failure (HF) is defined as an asymptomatic abnormality of the heart structure or function. The circulating level of N-terminal pro-B-type natriuretic peptide (NT-proBNP) is elevated in symptomatic patients with left ventricular… read more here.
Keywords: cardiac structural; level; structural abnormalities; probnp levels ... See more keywords
Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities
Sign Up to like & getrecommendations! Published in 2022 at "BMC Genomics"
DOI: 10.1186/s12864-022-08340-y
Abstract: Background The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses. Exon sequencing of fetuses exhibiting structural anomalies yields diagnostic… read more here.
Keywords: without structural; pregnancy; fetuses without; copy number ... See more keywords