scholarly journals Impact of SARS-CoV-2 pandemic on the care for patients with lysosomal disorders: The experience of a Mexican pediatric center

2021 ◽  
Vol 132 (2) ◽  
pp. S13
Author(s):  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-Garcia
2019 ◽  
Author(s):  
Michaela Bonfert ◽  
Claire Andonian ◽  
Christoph Bidlingmaier ◽  
Claudia Berlin ◽  
Ingo Borggraefe ◽  
...  

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 989
Author(s):  
Cecilia Lazea ◽  
Simona Bucerzan ◽  
Camelia Al-Khzouz ◽  
Anca Zimmermann ◽  
Ștefan Cristian Vesa ◽  
...  

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).


2021 ◽  
Vol 132 (2) ◽  
pp. S94
Author(s):  
John Santelices ◽  
Mariola Edelmann ◽  
Gustavo Maegawa

2014 ◽  
Vol 146 (5) ◽  
pp. S-1056 ◽  
Author(s):  
Tom K. Lin ◽  
Joseph J. Palermo ◽  
Jaimie D. Nathan ◽  
Greg M. Tiao ◽  
Maisam Abu-El-Haija

2017 ◽  
Vol 99 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Christopher M. Brusalis ◽  
Apurva S. Shah ◽  
Xianqun Luan ◽  
Meaghan K. Lutts ◽  
Wudbhav N. Sankar

2002 ◽  
Vol 7 (1) ◽  
pp. 75-83 ◽  
Author(s):  
J.E. Wraith
Keyword(s):  

2018 ◽  
Vol 123 (2) ◽  
pp. S38
Author(s):  
Francisco J. del Castillo ◽  
Gloria Muñoz ◽  
David García-Seisdedos ◽  
Antonio Sánchez-Herranz ◽  
Marta Morado ◽  
...  

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
Kamelia Okka ◽  
M Belghazi ◽  
A Dehimi ◽  
Z Benarab ◽  
S Bouabdallah ◽  
...  

Abstract Background Etanercept (ETN) is the first anti-TNF to have obtained FDA approval in 1999 for juvenile idiopathic arthritis (JIA) refractory to methotrexate. Currently, the indications of ETN cover the polyarticular JIA, the extended oligoarticular, and enthesitis-related arthritis. To assess the efficacy of Etanercept, as well as its tolerance in JIA. Material and methods We carried out a retrospective study of children with JIA according to the criteria of the ILAR classification and treated with Etanercept at the pediatric center of the CHU de Sétif since 2015. Nineteen children were included and considered to 3 months, 6 months, 1 year, 2 years, 3 years, 4 years, 5 years on the criteria epidemiology, the efficiency criteria (joint Scores, uveitis, ESR, CHAQ), and the occurrence possible side effects. We defined the improvement of 30% (ACR 30), 50% (ACR 50), 70% (ACR 70), 90% (ACR 90), and 100% (ACR 100) as the improvement of minus 3 criteria out of 6 of 30%, 50%, 70%, 90%, 100%; patients must not have a worsening of &gt; 30% of any of the 6 criteria. Results The epidemiological features were the following: 12 girls and 7 boys, 10 present polyarticular form, 6 present oligoarticular form, 2 cases with psoriatic arthritis, and a single case of enthesitis-related arthritis. ACR 30 is obtained in 75%, 84%, 88% of cases at 3 months, 6 months, and 1 year, respectively. The strongest responses were obtained in polyarticular, oligoarticular, and enthesitis-related arthritis. Complete remission was maintained in the majority of patients for varied durations depending on the follow-up. Furthermore, no clinical or biological adverse effects were noted. Conclusion The Etanercept has been dramatically effective in children with juvenile idiopathic arthritis, especially in the polyarticular subtype, oligoarticular, and enthesitis-related arthritis. Its overall tolerance is very good.


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