Bilateral idiopathic peripapillary choroidal neovascularization in a child with bruton disease: a case report. [PDF]
BMC OphthalmolKerkouri S +6 more
europepmc +1 more source
The Genomic Evolution of Early‐Stage Non‐Small Cell Lung Cancer
Medicine Advances, EarlyView.This study provides a comprehensive overview of the genomic landscape of early‐stage non‐small cell lung cancer, identifying the 4q12 deletion as a potential exclusive biomarker for the “oncogenic switch” from pre‐invasive to invasive lesions. It delineates that while EGFR and TP53 mutations act as early truncal drivers, the progressive increase in ...
Huatao Tang, Yang Zhang, Haiquan Chen
wiley +1 more source
AIF-1 Drives Corneal Neovascularization by Promoting Inflammatory Macrophage Activation via the MAPK and PI3K/AKT/mTOR Signaling Pathways. [PDF]
Invest Ophthalmol Vis SciLi Q +9 more
europepmc +1 more source
Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?
Prenatal Diagnosis, EarlyView.ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
A Highly Active Angiopoietin 1 Mimetic Potentiates Angiogenesis in Mouse Models of Choroidal Neovascularization. [PDF]
Transl Vis Sci TechnolYoussif AA +5 more
europepmc +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Giant Retinal Pigment Epithelium Tear Secondary to Hypotony After Trabeculectomy for Open-Angle Glaucoma With Preoperative Untreated Choroidal Neovascularization: A Case Report. [PDF]
CureusMatsuno T +4 more
europepmc +1 more source
Macrophage microRNA-150 promotes pathological angiogenesis as seen in age-related macular degeneration [PDF]
, 2018 Agarwal +11 more
core +2 more sources
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source