53 research outputs found

    Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry

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    This study aims to describe musculoskeletal manifestations (MSM) in children with Behçet's syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet's Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (37.8%). Arthritis was monoarticular in 9/31 cases (29%), oligoarticular in 10 (32.3%), polyarticular in 5 (16.1%), axial in 7 (22.6%). Over time, arthritis became chronic-recurrent in 67.7% of cases and 7/31 patients had joint erosions (22.6%). The median Behçet's Syndrome Overall Damage Index was 0 (range 0-4). Colchicine was inefficacious for MSM in 4/14 cases (28.6%), independently from the type of MSM (p = 0.46) or the concomitant therapy (p = 0.30 for cDMARDs, p = 1.00 for glucocorticoids); cDMARDs and bDMARDs were inefficacious for MSM in 6/19 (31.4%) and 5/12 (41.7%) cases. The presence of myalgia was associated with bDMARDs inefficacy (p = 0.014). To conclude, MSM in children with BS are frequently associated with recurrent ulcers and pseudofolliculitis. Arthritis is mostly mono- or oligoarticular, but sacroiliitis is not unusual. Prognosis of this subset of BS is overall favorable, though the presence of myalgia negatively affects response to biologic therapies. ClinicalTrials.gov Identifier: NCT05200715 (registered on December 18, 2021)

    Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia

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    Tricuspid atresia, a congenital heart defect (CHD) with unknown etiology, occurs 0.056 per 100 live births and is invariably associated with right ventricular hypoplasia, and atrial/ventricular septal defects (1). Recently, many of associations have been reported between mitochondrial DNA (mtDNA) and a variety of diseases (2). Next-generation sequencing has overcome many limitations of mtDNA studies, such as estimation of heteroplasmy level and its effects on the severity of mitochondrial diseases

    Third left pulmonary vein with abnormal return associated with arteriovenous fistula

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    Anomalies of pulmonary veins are uncommon and vary widely in their anatomic spectrum and clinical presentation. A 20-year-old woman with complaints of effort-induced dyspnea and easy fatigability was diagnosed with a third left pulmonary vein with abnormal return and arteriovenous fistula accompanied by a secundum atrial septal defect (ASD). Complete surgical repair was performed by ASD closure with a pericardial patch and triple ligation of the left vertical vein and associated third pulmonary vein. The patient was discharged on the seventh postoperative day in good health. Her last control examination was performed in the second postoperative year, revealing normal echocardiographic findings with an excellent clinical course
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