Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering of the skin and late onset of muscular dystrophy, and Ogna epidermolysis bullosa simplex, a rare dominant inherited form of epidermolysis bullosa simplex with no muscular involvement. Here we report a novel homozygous genetic mutation (2727del14) in the plectin gene (PLEC1) associated with a lethal form of recessive inherited epidermolysis bullosa in a consanguineous family with three affected offspring. This new clinical variant of epidermolysis bullosa is characterized by general skin blistering, aplasia cutis of the limbs, developmental complications, and rapid demise after birth. Mutation 2727del14 is the first genetic defect described in PLEC1 that disrupts the plakin domain of plectin. The severe phenotype of the patients may be linked to the role of the N-terminal domain in the function of plectin and develops the understanding of the genotype-phenotype correlations in the genodermatoses affecting the dermal-epidermal junction

Mentors' self‐assessed competence in mentoring nursing students in clinical practice: A systematic review of quantitative studies

Aims and objectives: To examine registered nurses' self‐evaluation of their competence in mentoring nursing students in clinical practice. Background: Clinical mentors have significant roles and responsibility for nursing students' clinical learning. Moreover, the mentors' role is becoming increasingly important internationally, as the role of nurse teachers in mentoring students in clinical practice has declined. However, in most EU countries there are no specific educational requirements for clinical mentors, although they need targeted education to increase their competence in mentoring nursing students. Design: The systematic review of quantitative studies was designed according to guidelines of the Centre for Reviews and Dissemination and PRISMA protocol. Methods: Studies published during 2000–2019 that met inclusion criteria formulated in PiCOS format were systematically reviewed by three independent reviewers. CINAHL (Ebsco), PubMed (MEDLINE), Scopus, ERIC and Medic databases were used to retrieve the studies. Three independent reviewers conducted the systematic review process. The studies were tabulated, thematically compared and narratively reported. Results: In total, 16 peer‐reviewed studies met the inclusion criteria. The studies identified various dimensions of mentors´ competence and associated environmental factors. Generally, participating mentors rated competences related to the clinical environment, mentoring, supporting students' learning processes and relevant personal characteristics fairly high. They also rated organisational practices in their workplaces, resources in the clinical environment and their mentor–student and mentor–stakeholder pedagogical practices, as respectable or satisfactory. Conclusion: The results indicate considerable scope for improving mentors' competence, particularly through enhancing organisational mentoring practices and relevant resources in clinical environments. Relevance for clinical practice: Pedagogical practices of mentors in relations with both students and stakeholders should be enhanced to improve future nurses' learning. This systematic review addresses a gap in knowledge of mentors' self‐evaluated competence that could assist the formulation of effective educational programmes for mentors internationally and improving clinical environments.We would like to acknowledge European Commission, Erasmus+, KA2: Strategic partnership for providing funding for the project Quality mentorship for developing competent nursing students (QualMent)

Directrices para el desarrollo de competencias de tutoría de enfermeras mentoras clínicas

La guía se basa en evidencia de investigación evaluada críticamente y se ha desarrollado durante los años 2018-2021 a través del proyecto Erasmus +: Mentoría de Calidad para el Desarrollo de Estudiantes de Enfermería Competentes (QualMent) bajo el liderazgo de un equipo internacional de expertos con amplios conocimientos y experiencia en tutoría.Proyecto Erasmus + Mentoría de Calidad para el Desarrollo de Estudiantes de Enfermería Competentes (QualMent) 2018-1-SI01-KA203-04708

A call for immediate action to increase COVID-19 vaccination uptake to prepare for the third pandemic winter

publishedVersionNon peer reviewe

ETFAD/EADV Eczema task force 2020 position paper on diagnosis and treatment of atopic dermatitis in adults and children

Atopic dermatitis (AD) is a highly pruritic, chronic inflammatory skin disease. The diagnosis is made using evaluated clinical criteria. Disease activity and burden are best measured with a composite score, assessing both objective and subjective symptoms, such as SCORing Atopic Dermatitis (SCORAD). AD management must take into account clinical and pathogenic variabilities, the patient’s age and also target flare prevention. Basic therapy includes hydrating and barrier‐stabilizing topical treatment universally applied, as well as avoiding specific and unspecific provocation factors. Visible skin lesions are treated with anti‐inflammatory topical agents such as corticosteroids and calcineurin inhibitors (tacrolimus and pimecrolimus), which are preferred in sensitive locations. Topical tacrolimus and some mid‐potency corticosteroids are proven agents for proactive therapy, which is defined as the long‐term intermittent anti‐inflammatory therapy of frequently relapsing skin areas. Systemic anti‐inflammatory or immunosuppressive treatment is a rapidly changing field requiring monitoring. Oral corticosteroids have a largely unfavourable benefit–risk ratio. The IL‐4R‐blocker dupilumab is a safe, effective and licensed, but expensive, treatment option with potential ocular side‐effects. Other biologicals targeting key pathways in the atopic immune response, as well as different Janus kinase inhibitors, are among emerging treatment options. Dysbalanced microbial colonization and infection may induce disease exacerbation and can justify additional antimicrobial treatment. Systemic antihistamines (H1R‐blockers) only have limited effects on AD‐related itch and eczema lesions. Adjuvant therapy includes UV irradiation, preferably narrowband UVB or UVA1. Coal tar may be useful for atopic hand and foot eczema. Dietary recommendations should be patient‐specific, and elimination diets should only be advised in case of proven food allergy. Allergen‐specific immunotherapy to aeroallergens may be useful in selected cases. Psychosomatic counselling is recommended to address stress‐induced exacerbations. Efficacy‐proven 'Eczema school' educational programmes and therapeutic patient education are recommended for both children and adults

European Task Force on Atopic Dermatitis (ETFAD): position on vaccination of adult patients with atopic dermatitis against COVID‐19 (SARS‐CoV‐2) being treated with systemic medication and biologics

The coronavirus disease 2019 (COVID‐19) pandemic is caused by rapid spread of different strains of the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2). The severity of infection ranges from mild, or even asymptomatic, to very severe. Signs and symptoms include fatigue, fever, exanthemas, upper respiratory illness, loss of smell and taste, pneumonia, severe acute respiratory syndrome, and multi‐organ failure. Risk factors for a severe or lethal course include age, male gender, obesity, diabetes, cardiovascular disease, and immune suppression1

Risk of severe allergic reactions to COVID-19 vaccines among patients with allergic skin diseases - practical recommendations. A position statement of ETFAD with external experts.

Since the introduction of active vaccination against SARS‐CoV‐2 infection, there has been a debate about the risk of developing severe allergic or anaphylactic reactions among individuals with a history of allergy. Indeed, rare cases of severe allergic reactions have been reported in the United Kingdom and North America. By February 2021 a rate of 4,5 severe allergic reactions occurred among 1 million patients vaccinated with the mRNA‐based COVID‐19 vaccines, which is higher than the generally expected rate of severe allergic reactions to vaccinations of around 1 in 1 million