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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFUltrasound-responsive nanoparticles for nitric oxide release to inhibit the growth of breast cancer.
Cancer Cell Int
December 2024
Department of Ultrasound, Chongqing General Hospital, Chongqing University, Chongqing, 401147, China.
Gas therapy represents a promising strategy for cancer treatment, with nitric oxide (NO) therapy showing particular potential in tumor therapy. However, ensuring sufficient production of NO remains a significant challenge. Leveraging ultrasound-responsive nanoparticles to promote the release of NO is an emerging way to solve this challenge.
View Article and Find Full Text PDFMulti-Energy Evaluation of Image Quality in Spectral CT Pulmonary Angiography Using Different Strength Deep Learning Spectral Reconstructions.
Acad Radiol
December 2024
Radiomics and Augmented Intelligence Laboratory (RAIL), Department of Radiology and the Norman Fixel Institute for Neurological Diseases, University of Florida College of Medicine, Gainesville, FL (M.H-S., H.S.S., A.G.R., S.E.M., J.C.P., E.Y.A., B.H., R.F.); Department of Radiology, University of Florida College of Medicine, Gainesville, FL (M.H-S., H.S.S., A.G.R., J.C.P., E.Y.A., B.H., R.F.); Division of Medical Physics, University of Florida College of Medicine, Gainesville, FL (R.F.); Department of Neurology, Division of Movement Disorders, University of Florida College of Medicine, Gainesville, FL (R.F.); Department of Otolaryngology - Head and Neck Surgery, McGill University, Montreal, Quebec, Canada (R.F.); Department of Radiology, AdventHealth Medical Group, Maitland, FL (R.F.). Electronic address:
Rationale And Objectives: To evaluate and compare image quality of different energy levels of virtual monochromatic images (VMIs) using standard versus strong deep learning spectral reconstruction (DLSR) on dual-energy CT pulmonary angiogram (DECT-PA).
Materials And Methods: A retrospective study was performed on 70 patients who underwent DECT-PA (15 PE present; 55 PE absent) scans. VMIs were reconstructed at different energy levels ranging from 35 to 200 keV using standard and strong levels with deep learning spectral reconstruction.
Early Lung Adenocarcinoma Manifesting as Irregular Subsolid Nodules: Clinical and CT Characteristics.
Acad Radiol
December 2024
Department of Radiology, The First Affiliated Hospital of Chongqing Medical University, No. 1 Youyi Road, Yuzhong District, Chongqing 400016, China (P.-l.Z., T.-y.L., F.-j.L., Q.L.). Electronic address:
Rationale And Objectives: To explore the clinical and computed tomography (CT) characteristics of early-stage lung adenocarcinoma (LADC) that presents with an irregular shape.
Materials And Methods: The CT data of 575 patients with stage IA LADC and 295 with persistent inflammatory lesion (PIL) manifesting as subsolid nodules (SSNs) were analyzed retrospectively. Among these patients, we selected 233 patients with LADC and 140 patients with PIL, who showed irregular SSNs, hereinafter referred to as irregular LADC (I-LADC) and irregular PIL (I-PIL), respectively.
Exploring Pediatric Sutural Variations with 3D CT Imaging: A Retrospective Study at a Tertiary Hospital.
World Neurosurg
December 2024
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard, Riyadh, Saudi Arabia; Department of Pediatrics Neurosurgery, King Abdullah Specialist Children Hospital, Ministry of National Guard, Riyadh, Saudi Arabia.
Background: Sutural anatomy variation has long been a topic of debate among anatomists, paleontologists, and morphologists. While the exact reasons for the prevalence of this variance remains a topic of ongoing discussion, developmental and genetic factors are hypothesized to be the main reasons. Understanding the morphology and occurrence of normal sutural variations in pediatric patients is essential to making the right diagnosis, where a misinterpretation of a sutural bone may lead to an inaccurate assessment, completely misleading the diagnostic process.
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