Bruun Dalgaard (scalecloudy4)

In patients suffering from e-cigarette-related respiratory illness including EVALI, the primary treatment goal should be the cessation of e-cigarette use and avoidance of other possible pulmonary toxins, including conventional cigarettes. Prevention of e-cigarette use is critical in the youth population, as these patients are typically nicotine naïve and do not engage in smoking conventional cigarettes before initiation of vaping. © 2020 Wiley Periodicals, Inc.BACKGROUND The objective of this study was to investigate the genetic causes of two probands diagnosed as Waardenburg syndrome (WS type I and IV) from two unrelated Chinese families. METHODS PAX3 and SOX10 were the main pathogenic genes for WS type I (WS I) and IV (WS IV), respectively; all coding exons of these genes were sequenced on the two probands and their family members. Luciferase reporter assay and co-immunoprecipitation (CO-IP) were conducted to verify potential functional outcomes of the novel mutations. RESULTS The first proband is a 9 years old girl diagnosed with WS I. A novel PAX3 heterozygous mutation of c.372-373delGA (p.N125fs) was identified, which results in a frameshift and truncation of PAX3 protein. In family II, a 2 years old girl was diagnosed with WS IV, and Sanger sequencing revealed a de novo SOX10 mutation of c.1114insTGGGGCCCCCACACTACACCGAC (p.Q372fs), a frameshift mutation that extends the amino acid chain of SOX10 protein. Functional studies indicated that the novel mutation of SOX10 had no effects on the interaction of SOX10 and PAX3, but reduced transactivate capacity of melanocyte inducing transcription factor (MITF) promoter. Both PAX3 and SOX10 mutation-induced defects of MITF transcription might contribute to the WS pathogenesis. CONCLUSION We revealed a novel mutation in PAX3 and a de novo mutation in SOX10, which might account for the underlying pathogenesis of WS. This study expands the database of both PAX10 and PAX3 mutations and improves our understanding of the causes of WS. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.BACKGROUND Changes of affective well-being are usually analysed either as longitudinal processes or as daily fluctuations. We used a three-burst diary study to combine these perspectives. METHOD The participants were 211 patients with a diagnosis of HIV infection. In three bursts with 6-month intervals, they completed an online diary for five consecutive days, which gives 15 days of measurements. They evaluate affective well-being (positive and negative affect), stress associated with a central hassle, and coping (rumination and positive reappraisal). RESULTS Higher daily stress coupled with higher rumination was related to lower well-being. For positive reappraisal, the picture was more complex. First, its interaction with daily stress had an effect on negative, but not on positive, affect. Second, this effect was significant only at the first burst. CONCLUSIONS These results suggest a stable debilitating effect of daily rumination, but a limited and diminishing beneficial effect of daily positive reappraisal among people living with HIV. As such, they do not confirm the view that positive reappraisal sustains affective well-being during chronic health conditions. This may inform stress management interventions for PLWH, which are now increasingly taking the form of mobile applications, adapted to the daily lives of patients in their natural environment. © 2020 The Authors. Applied Psychology Health and Well-Being published by John Wiley & Sons Ltd on behalf of International Association of Applied Psychology.Cold atmospheric plasma (CAP) is a group of various chemical active species, such as ozone and nitric oxide, generated by working gas. CAP was demonstrated to have an effect on tissue regeneration and wound healing. We conducted this study to evaluate the efficacy and safety of CAP as a novel therapy for diabetic wounds in vitro and i