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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFInherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.
Semin Thromb Hemost
January 2025
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.
View Article and Find Full Text PDFSafety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.
Neurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFClinical practice guidelines for management of disseminated intravascular coagulation in Japan 2024. Part 3: solid cancers and vascular abnormalities.
Int J Hematol
January 2025
Associated Department With Mie Graduate School of Medicine, Mie Prefectural General Medical Center, Yokkaichi, Japan.
This study discusses disseminated intravascular coagulation (DIC) associated with solid cancers and various vascular abnormalities, both of which generally exhibit chronic DIC patterns. Solid cancers are among the most significant underlying diseases that induce DIC. However, the severity, bleeding tendency, and progression of DIC vary considerably depending on the type and stage of the cancer, making generalization difficult.
View Article and Find Full Text PDFImpact of Baseline Thrombocytopenia on Early Outcomes in Patients With Acute Venous Thromboembolism.
Am J Hematol
January 2025
Chair for the Study of Thromboembolic Disease, Faculty of Health Sciences, UCAM - Universidad Católica San Antonio de Murcia, Barcelona, Spain.
Managing acute venous thromboembolism (VTE) in patients with thrombocytopenia is challenging. We used data from the RIETE registry to investigate the impact of baseline thrombocytopenia on early VTE-related outcomes, depending on the initial presentation as pulmonary embolism (PE) or isolated lower-limb deep vein thrombosis (DVT). From March 2003 to November 2022, 90 418 patients with VTE were included.
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