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J Pediatr Hematol Oncol
January 2025
Medical Faculty, University of Belgrade.
Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
January 2025
Departments of Neurosurgery, Montefiore Medical Center, Albert Einstein College of Medicine.
Spontaneous epidural hematoma (EDH) is a rare sickle cell disease (SCD) complication. We report 3 pediatric cases with SCD and spontaneous EDH and 1 with subgaleal hematomas in the setting of vaso-occlusive crises and elaborate on their presentation and management. Through a scoping review, we identified 71 additional cases reported from 1970 to 2024 and highlighted notable features.
View Article and Find Full Text PDFCardiol J
January 2024
First Department of Cardiology, Medical University of Gdansk, Poland.
Eur Heart J Case Rep
January 2025
Department of Cardiology, Christian Medical College, New Arcot Road, Vellore 632517, India.
Background: Granulomatosis with polyangiitis (GPA) is an autoimmune multisystem disorder characterized by small vessel vasculitis with granulomatous inflammation. In this report, we describe a unique case of GPA who presented with complete heart block (CHB) and developed complications due to intracranial large vessel involvement.
Case Summary: A 47-year-old gentleman presented with CHB with a background history of arthralgia and blood-tinged nasal discharge.
Cureus
November 2024
Intensive Medicine, Hospital Pedro Hispano, Matosinhos, PRT.
Isolated cricoid fractures are exceedingly rare but can be life-threatening. Injuries caused by minor neck trauma related to external laryngeal manipulation or an inappropriate tube cuff size have been reported in the literature. Symptoms typically appear immediately after the traumatic episode.
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