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Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype-phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and/or amino acid substitutions located in the extracellular domain of integrin α6ß4 genes. In DEB with CAS, missense variants occurring close to non-collagenous interruptions of the triple-helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon.

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Abstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.

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Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.

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PURPOSE: Questionnaires are indispensable tools in epidemiologic studies and clinical surveys. Many questionnaires focusing on sleep disorders have been described in the literature. This cross-sectional study is aimed to assess the consistency and reliability of the Brazilian Portuguese Version of the Mini-Sleep Questionnaire (MSQ-BR). METHODS: Self-administered questionnaires were given to a sample of 1,108 undergraduate students. The variables collected were age, gender, socioeconomic level, and MSQ-BR scores. A subgroup of 53 students was randomly chosen to test the test-retest reliability of the instrument. Internal consistency of total MSQ-BR and its subscales (i.e., insomnia and hypersomnia) was evaluated using Cronbach's alpha coefficient. RESULTS: Our results showed good internal consistency of total MSQ-BR score, with a Cronbach's alpha value of 0.770. The insomnia subscale had an adequate internal consistency (Cronbach's alpha, 0.749). On the other hand, the hypersomnia subscale had moderate internal consistency (Cronbach's alpha, 0.624). The test-retest analysis showed good reliability of the instrument using Pearson's correlation coefficient. CONCLUSIONS: The MSQ-BR has adequate internal consistency and test-retest reliability. The MSQ-BR insomnia has adequate internal consistency for use as a separate application. However, the MSQ-BR hypersomnia demonstrated only moderate internal consistency for use as a separate application. Our intention was not to introduce modifications to the questionnaire, but to evaluate the reliability of total MSQ-BR and its subscales. Others studies are needed to assess the consistency of MSQ compared to other instruments.

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Some studies have demonstrated that physiotherapists have a high prevalence of low back pain (LBP). The association between physiotherapy students, who are potentially exposed to the same LBP occupational risks as graduates, and LBP has never been demonstrated. The objective of the study is to evaluate the association between undergraduate physiotherapy study and LBP. The study design includes a cross-sectional study. A questionnaire-based study was carried out with physiotherapy and medical students. LBP was measured as lifetime, 1-year and point prevalence. Bivariate and multivariate analyses were performed to find the factors associated with LBP. Bivariate analyses were also performed to assess differences between LBP characteristics in the two courses. 77.9% of the students had LBP at some point in their lives, 66.8% in the last year and 14.4% of them reported they were suffering from LBP at the moment of answering the questionnaire. Physiotherapy students reported a higher prevalence of LBP when compared with the medical students in all measures. In the logistic regression model, physiotherapy students (A-OR 2.51; 95% CI 1.35-4.67; p = 0.003), and being exposed to the undergraduate study for more than four semesters (A-OR 2.55; 95% CI 1.43-4.55; p = 0.001) were independently associated with LBP. There were no differences between the courses concerning pain intensity and disability. As it was a cross-sectional study, we were not able to observe accurately if there is an increasing incidence of LBP during the course. Also, we did not intend to identify which activities in the course were associated with the development of LBP. This study clearly demonstrated an association between undergraduate physiotherapy study and LBP. The length of course exposure is also associated with LBP.

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OBJECTIVE: To evaluate the knowledge about stroke in Caxias do Sul. METHOD: A closed-ended, self-administered questionnaire was used to assess the knowledge about stroke among residents of Caxias do Sul. In order to verify variables associated to lack of knowledge we defined three main end points: (1) the inability to recognize that stroke is a disease that affects the brain; (2) insufficient knowledge of risk factors; (3) insufficient knowledge of signs and symptoms of acute stroke. RESULTS: A total of 952 subjects answered the questionnaire. Lower income and lower educational level were independent factors associated to inability to recognize that stroke affects the brain. Lower income and being under 50 years old were independent risk factors to lack of knowledge concerning stroke risk factors. Lower educational level was the unique risk factor for insufficient knowledge about stroke warning signs. CONCLUSION: There is a lack of knowledge about stroke in Caxias do Sul. People with lower socioeconomic status and lower education level should be the targets of educational campaigns.

OBJETIVO: Avaliar o conhecimento sobre doença cerebrovascular em Caxias do Sul. MÉTODO: Um questionário auto-administrado, com questões objetivas, foi utilizado para avaliar o conhecimento sobre doença cerebrovascuar em residentes de Caxias do Sul. A fim de verificar as variáveis associadas à falta de conhecimento, definiram-se três principais desfechos: (1) incapacidade de reconhechecer que o derrame é uma doença que afeta o cérebro; (2) conchecimento insuficiente sobre fatores de risco; (3) conhecimeto insuficiente sobre sinais e sintomas de acidente vascular encefálico. RESULTADOS: Um total de 952 sujeitos responderam o questionário. Menor renda e menor nível socioeconômico foram fatores independentes associados à incapacidade de reconhecer que derrame afeta o cérebro. Menor renda e ter menos que 50 anos de idade foram fatores independentes associados à conchecimento insuficiente sobre fatores de risco para doença cerebrovasculas. Menor nível educacional foi o único fator de risco independente associado à conhecimento insuficiente sobre sinais de alerta do acidente vascular encefálico. CONCLUSÃO: Há uma lacuna de conhecimento sobre doença cerebrovascular em Caxias do Sul. Pessoas com menor nível socioeconômico e menor nível educaional deveriam ser o alvo para campanhas educacionais.

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OBJECTIVE: To evaluate the knowledge about stroke in Caxias do Sul. METHOD: A closed-ended, self-administered questionnaire was used to assess the knowledge about stroke among residents of Caxias do Sul. In order to verify variables associated to lack of knowledge we defined three main end points: (1) the inability to recognize that stroke is a disease that affects the brain; (2) insufficient knowledge of risk factors; (3) insufficient knowledge of signs and symptoms of acute stroke. RESULTS: A total of 952 subjects answered the questionnaire. Lower income and lower educational level were independent factors associated to inability to recognize that stroke affects the brain. Lower income and being under 50 years old were independent risk factors to lack of knowledge concerning stroke risk factors. Lower educational level was the unique risk factor for insufficient knowledge about stroke warning signs. CONCLUSION: There is a lack of knowledge about stroke in Caxias do Sul. People with lower socioeconomic status and lower education level should be the targets of educational campaigns.

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