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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8957763 | PMC |
| http://dx.doi.org/10.46497/ArchRheumatol.2021.8515 | DOI Listing |
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Development and validation of a support vector machine-based nomogram for diagnosis of obstetric antiphospholipid syndrome.
Clin Chim Acta
January 2025
Department of Rheumatism and Immunology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, PR China. Electronic address:
Background: Antiphospholipid Syndrome (APS) is a systemic autoimmune disorder characterized by arterial or venous thrombosis and/or pregnancy complications. This study aims to develop a diagnostic model for Obstetric APS (OAPS) using the Support Vector Machine (SVM) algorithm.
Methods: Data were retrospectively collected from 102 patients with OAPS and 80 healthy controls (HC).
Case Report: Catastrophic antiphospholipid syndrome in a pediatric patient after percutaneous treatment of aortic re-coarctation.
Front Pediatr
December 2024
Pediatric Rheumatology Department, Hospital Para El Niño Poblano, Puebla, Mexico.
A female patient in middle childhood was diagnosed with coarctation of the aorta at one month of age and underwent a successful cortectomy. At 11 years old, she developed re-coarctation, which was managed through interventional cardiology. Shortly after the procedure, she experienced a sudden and severe clinical decline, presenting with hypoperfusion of the lower extremities, gastrointestinal bleeding, acute kidney injury, and pancreatitis.
View Article and Find Full Text PDFCase report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Front Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
A Lipidomic Study to Identify the Serum Lipid Markers for Obstetric Antiphospholipid Syndrome.
J Proteome Res
January 2025
Department of Obstetrics and Gynecology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing 210000, Jiangsu, China.
This study used untargeted lipidomics to analyze the characteristics of lipid metabolism in the serum of women with antiphospholipid syndrome. Twenty female patients with APS and 20 healthy controls were recruited to this study. Untargeted lipidomics with liquid chromatography-tandem mass spectrometry was used to profile serum lipids.
View Article and Find Full Text PDFCatastrophic antiphospholipid antibody syndrome associated with ischaemic cardiomyopathy.
Cardiol Young
January 2025
The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Article Synopsis
- A 16-year-old female, who had been diagnosed with bilateral sub-segmental pulmonary emboli, experienced cardiogenic shock due to weakened heart function.
- Cardiac MRI revealed signs of possible microvascular injury to her coronary arteries.
- She was ultimately diagnosed with ischaemic cardiomyopathy caused by catastrophic antiphospholipid antibody syndrome, which might be linked to an underlying autoimmune connective tissue disease.
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