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Iskalni niz: "avtor" (Nicola Luigi Bragazzi) .

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Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS : an under-recognized but prognostically important complication
Abdulla Watad, Mark Kačar, Nicola Luigi Bragazzi, Qiao Zhou, Miriam Jassam, Jan Taylor, Eve Roman, Alexandra Smith, Richard A. Jones, Howard Amital, 2021

Povzetek: Objectives: We theorized that myelodysplastic syndrome (MDS) with somatic mutations and karyotype abnormalities are associated with autoinflammation, and that the presence of autoinflammatory disease affected prognosis in MDS. Methods: One hundred thirty-four MDS patients were assessed for the prevalence of autoinflammatory complications and its link with karyotypes and somaticmutation status. Autoinflammatory complications were described either as well-defined autoinflammatory diseases (AD) or undifferentiated "autoinflammatory disease" (UAD) (defined as CRP over 10.0 mg/L on five consecutive occasions, taken at separate times and not explained by infection). Several patient characteristics including demographic, clinical, laboratory, cytogenetics charts, and outcomes, were compared between different groups. Results: Sixty-two (46.3%) patients had an autoinflammatory complication manifesting as arthralgia (43.5% vs. 23.6%, p = 0.0146), arthritis (30.6% vs. 15.3%, p = 0.0340), skin rash (27.4% vs. 12.5%, p = 0.0301), pleuritis (14.5% vs. 4.2%, p = 0.0371) and unexplained fever (27.4% vs. 0%, p < 0.0001). AD were found in 7.4% of MDS patients (with polymyalgia rheumatic being the most frequently one). Classical autoimmune diseases were found only in 4 MDS patients (3.0%). Transcription factor pathway mutations (RUNX1, BCOR, WTI, TP53) (OR 2.20 [95%CI 1.02-4.75], p = 0.0451) and abnormal karyotypes (OR 2.76 [95%CI 1.22-6.26], p = 0.0153) were associated with autoinflammatory complications. Acute leukaemic transformation was more frequent in MDS patients with autoinflammatory features than those without (27.4% vs. 9.7%, p = 0.0080). Conclusions: Autoinflammatory complications are common inMDS. Somatic mutations of transcription factor pathways and abnormal karyotypes are associated with greater risk of autoinflammatory complications, which are themselves linked to malignant transformation and a worse prognosis.
Ključne besede: myelodysplastic syndromes - genetics, autoinflammation, undifferentiated autoinflammatory disease, molecular characterization, somatic mutations
DiRROS - Objavljeno: 31.03.2021; Ogledov: 357; Prenosov: 229
.pdf Celotno besedilo (684,58 KB)

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Effect of a warm-up protocol with and without facemask-use against COVID-19 on cognitive function : ǂa ǂpilot, randomized counterbalanced, cross-sectional study
Maamer Slimani, Bianca Miarka, Hela Znazen, Wassim Moalla, Amri Hammami, Armin Paravlić, Nicola Luigi Bragazzi, 2021

Povzetek: The present study aimed to verify the effect of a warm-up protocol with and without facemask-use on cognitive function. The sample was composed of 17 healthy, non-smoking physical education students (age = 17.6 years, height = 1.71 m, and body mass = 69.7 kg). They were randomized to perform 15 min of warm-up exercises, while wearing a cloth facemask (EXP) or no mask (CON) on two separate occasions, with at least 48-h separating conditions. Rate of perceived exertion (RPE) and d2 Attention assessment were used to verify cognitive function, using a repeated measures general linear model. The warm-up improved cognitive abilities and the results demonstrated significant differences between the EXP vs. CON groups in post-concentration performance (186.06 % 15.47 EXP-score vs. 178.12 % 13.66 CON-score), post the total number of errors (23.47 % 14.50 EXP-frequency < 29.06 % 13.74 CON-frequency), and in the post RPE (6.0 % 1.37 EXP-index > 4.7 % 0.85 CON-index). Wearing a cloth facemask caused positive effects on cognitive function. This data suggests that wearing a cloth facemask during warm-up may stimulate/improve the cognitive function.
Ključne besede: pandemic, coronavirus, COVID-19, physical activities, exercises, facemasks, warm-up protocol, cognitive functions, neuropsychological tests
DiRROS - Objavljeno: 11.06.2021; Ogledov: 211; Prenosov: 130
.pdf Celotno besedilo (320,39 KB)

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