Publications by authors named "N Toplak"
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.
View Article and Find Full Text PDFObjective: To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.
Methods: RarERN Path is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders.
Objectives: (1) characterizing a group of spondyloarthritis (SpA) patients with systemic auto-inflammatory symptoms (S-SpA); (2) comparing SpA features with and without auto-inflammatory symptoms; (3) comparing the auto-inflammatory features of S-SpA and Still's disease (SD).
Methods: Retrospective observational study. Clinical data of adult and pediatric patients with S-SpA, SD or SpA were collected retrospectively and analyzed.
Unlabelled: Targeted high-throughput sequencing (HTS) has revolutionized the way we look at bacterial communities. It can be used for the species-specific detection of bacteria as well as for the determination of the microbiome and resistome and can be applied to samples from almost any environment. However, the results of targeted HTS can be influenced by many factors, which poses a major challenge for its use in clinical diagnostics.
View Article and Find Full Text PDFArticle Synopsis
- Paediatric patients with autoimmune rheumatic diseases (pARD) are at a higher risk for severe infections, including COVID-19, so timely vaccination with the BNT162b2 vaccine was prioritized.
- The study compared the immune response (antibody levels) among three groups: those who had COVID-19, those who were vaccinated, and those who experienced both; data was gathered from March 2020 to April 2022.
- Results showed that antibody responses were stronger in vaccinated individuals and those who experienced both the vaccine and infection, and the vaccine had a good safety profile, with most vaccinated pARD remaining asymptomatic for COVID-19 over a 41.3-week observation period.