Publications by authors named "Ewa Tobor-Swietek"
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.
Ewa Tobór-Świętek Jolanta Sykut-Cegielska Mirosław Bik-Multanowski Mieczysław Walczak Dariusz Rokicki
J Clin Med
October 2021
Article Synopsis
- The COVID-19 pandemic has posed significant challenges for healthcare providers and patients with rare inherited metabolic disorders (IMD) and rare autoinflammatory diseases (AD) in Poland.
- A study conducted through surveys revealed that 35% of healthcare units experienced disruptions in regular appointments, predominantly due to patient infections, and only about two-thirds of patients engaged in remote consultations.
- While most hospitals managed to maintain some level of care, the findings suggest a need for broader adoption of telemedicine and alternative treatment methods to better support these vulnerable patients during ongoing and future health crises.
Unlabelled: Gaucher disease (GD) caused by mutation in the GBA gene has a wide spectrum of phenotypes. Besides the storage disorder, secondary alteration of various pathways occurs with modification of the expression of many genes. In our work we analysed the expression profile of genes in adult patients with type 1 GD.
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