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Tenascin-X deficiency causing classical-like Ehlers Danlos syndrome type 1 in humans is a significant risk factor for GI and tracheal ruptures.
Clin Transl Gastroenterol
January 2025
Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFPolyarteritis nodosa with life-threatening intracranial aneurysms in a child, and treatment with infliximab.
Turk J Pediatr
December 2024
Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, İstanbul, Türkiye.
Background: Polyarteritis nodosa (PAN) is a rare and serious form of systemic necrotizing vasculitis that predominantly affects medium and small-sized arteries, with central nervous system involvement being particularly uncommon. Treatment strategies are tailored according to the extent and severity of the disease. While conventional therapy includes glucocorticoids and conventional disease-modifying-rheumatic drugs (cDMARDs), biologic agents may be critical for severe and refractory cases.
View Article and Find Full Text PDFInfantile Aggressive Aneurysmal Bone Cyst of the Proximal Femur: A Rare Clinical Presentation.
Cureus
December 2024
Orthopaedics and Traumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, TUR.
Aneurysmal bone cysts (ABCs) are aggressive, osteolytic lesions usually seen in childhood and young adulthood. The patient's age, location, and behavior of the lesion in the bone may cause patients to present with different clinical findings. Appropriate treatment of these rare, aggressive bone lesions is essential for recurrence.
View Article and Find Full Text PDFMore Than a Haematoma: A Case of Aplastic Anemia.
Cureus
December 2024
Family Medicine, Family Health Unit (USF) Almedina, Local Health Unit of Trás-os-Montes and Alto Douro (ULSTMAD), Lamego, PRT.
Easy bruising and ecchymosis are common symptoms in clinical practice, yet distinguishing benign from clinically significant cases can be challenging. We report the case of a 46-year-old woman who presented in December 2023 with easy bruising and increased menstrual flow, revealing new-onset pancytopenia in laboratory tests. Initially diagnosed with Acute Myeloid Leukemia inversion (inv) (16), subsequent results were inconclusive, leading to a diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH).
View Article and Find Full Text PDFA Rare Case of Spinal Hypertrophic Pachymeningitis That Caused Tetraplegia After Myelography.
Cureus
December 2024
Department of Orthopaedics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JPN.
Hypertrophic pachymeningitis (HP) is a rare inflammatory disease that causes the thickening of the dura mater. Its etiology is mainly classified as idiopathic or secondary, and autoimmune disease is one of the main causes of secondary HP. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis and IgG4-related disease are common among autoimmune diseases.
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