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  1. Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia
    Bishnoi P, Ng YZ, Wei H, Tan EC, Lunny DP, Wong XFCC, et al.
    Am J Med Genet A, 2021 02;185(2):625-630.
    PMID: 33258232 DOI: 10.1002/ajmg.a.61975
    Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various Southeast Asian ethnicities. Here, we describe the clinical and molecular features of five patients from the Southeast Asia region who presented with predominantly acral-distributed blisters and erosions in the first few days of life. Blistering resolved over several months, without appearance of new blisters. By immunofluorescence, intraepidermal retention of Type VII collagen was observed in all patient skin biopsies when investigated with antibody staining. Genetic analysis of four patients revealed pathogenic variants in COL7A1 which have not been previously reported. The clinical diagnosis in these rare patients is confirmed with molecular histology and genetic characterization.
  2. Fulltext Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents
    Washif JA, Farooq A, Krug I, Pyne DB, Verhagen E, Taylor L, et al.
    Sports Med, 2022 04;52(4):933-948.
    PMID: 34687439 DOI: 10.1007/s40279-021-01573-z
    OBJECTIVE: Our objective was to explore the training-related knowledge, beliefs, and practices of athletes and the influence of lockdowns in response to the coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

    METHODS: Athletes (n = 12,526, comprising 13% world class, 21% international, 36% national, 24% state, and 6% recreational) completed an online survey that was available from 17 May to 5 July 2020 and explored their training behaviors (training knowledge, beliefs/attitudes, and practices), including specific questions on their training intensity, frequency, and session duration before and during lockdown (March-June 2020).

    RESULTS: Overall, 85% of athletes wanted to "maintain training," and 79% disagreed with the statement that it is "okay to not train during lockdown," with a greater prevalence for both in higher-level athletes. In total, 60% of athletes considered "coaching by correspondence (remote coaching)" to be sufficient (highest amongst world-class athletes). During lockdown, 

  3. Fulltext Correction to: Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents
    Washif JA, Farooq A, Krug I, Pyne DB, Verhagen E, Taylor L, et al.
    Sports Med, 2022 Oct 22.
    PMID: 36272061 DOI: 10.1007/s40279-022-01776-y
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