No abstract

No abstract

Direitos para esta edição cedidos à Atena Editora pelos autores. Open access publication by Atena Editora Todo o conteúdo deste livro está licenciado sob uma Licença de Atribuição Creative Commons. Atribuição-Não-Comercial-NãoDerivativos 4.0 Internacional (CC BY-NC-ND 4.0). O conteúdo dos artigos e seus dados em sua forma, correção e confiabilidade são de responsabilidade exclusiva dos autores, inclusive não representam necessariamente a posição oficial da Atena Editora. Permitido o download da obra e o compartilhamento desde que sejam atribuídos créditos aos autores, mas sem a possibilidade de alterá-la de nenhuma forma ou utilizá-la para fins comerciais.Todos os manuscritos foram previamente submetidos à avaliação cega pelos pares, membros do Conselho Editorial desta Editora, tendo sido aprovados para a publicação com base em critérios de neutralidade e imparcialidade acadêmica.A Atena Editora é comprometida em garantir a integridade editorial em todas as etapas do processo de publicação, evitando plágio, dados ou resultados fraudulentos e impedindo que interesses financeiros comprometam os padrões éticos da publicação. Situações suspeitas de má conduta científica serão investigadas sob o mais alto padrão de rigor acadêmico e ético.

Cystic fibrosis is a monogenic and autosomal recessive disease. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene responsible for encoding the CFTR protein.Involvement of the gastrointestinal and respiratory systems is the main clinical manifestation. In this case, we report a heterozygous CFTR patient harboring class I (p.Gly542*) and class V (c.2657+5G>A) mutations. The importance of this case report lies in the clinical features because the patient, aged 3 years, presented with early exocrine pancreatic insufficiency, which can be considered atypical, as most individuals with this genotype are pancreatic sufficient or develop pancreatic insufficiency later in life. This report aims at presenting the tests requested that contributed to the patient's diagnosis, as well as at understanding the association between these mutations and their phenotypic presentation. Interpretation of the genotype-phenotype relationship represents a challenge, as genetic analysis alone is not sufficient to clearly predict severity of the disease. This is because the significant phenotypic heterogeneity existing among patients with the same genotype may exert socioeconomic and sociocultural influences, or by the action of CFTR modifiers, such as environmental and modifying genes, which can alter the protein's function and exert an impact on the individual's phenotype.

BACKGROUND: Common mental disorders (CMDs) have been correlated with consequences in different domains of life. OBJECTIVE: To summarize the prevalence rates of CMDs and factors associated with them among students at Brazilian medical schools. DESIGN AND SETTING: Systematic review and meta-analysis of studies developed in Brazilian medical schools. METHODS: In October 2021, searches were carried out in seven electronic databases, in Google Scholar and in reference lists. Observational studies reporting prevalence rates of CMDs among students at Brazilian medical schools were sought. Variables associated with CMDs arising from multivariate regression models were included in the synthesis. A meta-analysis was developed using a random-effects model and the risk of bias was assessed using an instrument developed from previous references. RESULTS: Fourteen original studies were included. The pooled prevalence rate of CMDs among undergraduate students at Brazilian medical schools was 43.3% (95% confidence interval = 38.9% to 47.6%; I 2 = 87%; n = 3,927). Among the nine studies in which multivariate analyses were conducted, five showed risk associations between CMDs and medical school-related dissatisfactions, among which the desire to abandon the medical course can be highlighted (n = 3). In three studies, CMDs were associated with sleep indicators. CONCLUSION: Considering that the prevalence of CMDs among medical students is higher than in the general population, we recommend that Brazilian medical schools should give greater attention to this topic, and should enable expansion of care offerings relating to mental health. SYSTEMATIC REVIEW REGISTRATION: Prospective Register of Systematic Reviews (PROSPERO) database (CRD42020142184).