Going to the doctor

We aim to discover how fast our national health system can get back on its feet and regain the public’s confidence after a shock of the magnitude of COVID-19, by studying the evolution of health service appointment cancellations made by both health services and patients from 2020 to 2021. Is one year enough? Using cross sectional data on Portuguese mainland residents of at least 15 years of age, we conclude that from 2020 to 2021 both health services recovered (cancellations of appointments by the latter decreased 11.2 p.p.), and individuals regained confidence in them (cancellations by individuals decreased 4.7 p.p.)

Molecular diagnosis of haemophilia A: four novel variants identified in five patients

Aims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (predominantly into joins, muscles and inner organs). The severity of HMA ranges from mild (5-30% activity) to moderate (2-5% activity) to severe (<1% activity). During the last five years, we have found four novel variants identified in five index patients with no family history of HMA. Three frameshift variants were detected in patients presenting severe HMA and one missense variant was identified in two unrelated patients with a mild phenotype. Methods: Analysis of the F8 gene was performed in five index patients using PCR followed by Sanger sequencing, after F8 IVS22 and IVS1 inversions being excluded in severe HMA cases. Bioinformatics analysis was performed with several pathogenicity prediction tools (Alamut Visual, VarSome, VEP and Human Splicing Finder). Results and Conclusions: In the three patients with severe HMA, three different novel F8 variants were identified: c.1060_1061delCT, p.(Leu354Thrfs*5), c.4804delC, p.(Gln602Lysfs*19) and c.3561dupT, p.(Pro1188Serfs*10). All these variants create a frameshift, leading to a premature termination codon and presumably resulting in non-functional truncated proteins, confirming the patient’s phenotypes. The novel F8 missense variant c.5836G>T, p.(Asp1946Tyr) was identified in two unrelated patients, both with mild HMA. The Asp1946 is a highly conserved amino acid in the FVIII protein. Additionally, physicochemical properties between Asp and Tyr are significantly different, and in silico analysis classified it as pathogenic due to the amino acid substitution. Normal mRNA splicing process can also be disturbed due to the creation of a new donor splice site. RNA studies and other functional assays are essential in order to establish this variant clinical significance. Identification of novel pathogenic F8 variants in HMA patients allows genotype-phenotype correlations, appropriate genetic counseling and new knowledge about the molecular bases of this pathology.info:eu-repo/semantics/publishedVersio

Atuação diante das situações de aborto legal na perspectiva dos profissionais de saúde do Hospital Municipal Fernando Magalhães Practice in situations of legal abortion from the perspective of health professionals at Fernando Magalhães public hospital

O presente estudo teve como objetivo analisar as percepções dos profissionais de saúde do Hospital Municipal Fernando Magalhães (HMFM) sobre a atuação diante das situações de aborto legal. Para tal, buscou-se caracterizar os profissionais entrevistados, compreender o processo de qualificação para o atendimento às mulheres em situação de aborto e identificar as percepções dos profissionais sobre a atuação diante do aborto legal. Quanto à metodologia, adotou-se a abordagem quantitativa e qualitativa. Os instrumentos utilizados foram a análise de documentação institucional e as entrevistas do tipo semiestruturada, baseadas em roteiro com consentimento livre e esclarecido. Os resultados desta pesquisa apontaram para: o uso inadequado do direito a objeção de consciência por parte dos profissionais de saúde; a existência de diferentes dificuldades dos profissionais na construção de uma postura capaz de garantir o acesso ao aborto previsto em lei; e a interferência dos princípios éticos e dos valores religiosos como um elemento importante na postura profissional que desestimula a prática do aborto legal. Recomendam-se medidas voltadas para a formação continuada dos profissionais e monitoramento das ações preconizadas pelas normas técnicas.<br>The scope of this study was to analyze perceptions of health professionals at Fernando Magalhães Public Hospital regarding situations involving the practice of legal abortion. With this in mind, we sought to characterize the professionals interviewed, understand the qualifying process for assistance of women requiring abortion and identify the perceptions of the professionals regarding the practice of legal abortion. The quantitative and qualitative approach in terms of methodology was adopted. The instruments used were analysis of institutional documentation and semi-structured interviews based on a script with informed consent. The results of this research revealed: the inappropriate use of the right to conscientious objection by health professionals; the existence of difficulties faced by professionals in construction of a posture that ensures access to legally sanctioned abortion; and the interference of ethical and religious values as an important element in professional attitudes that discourage the practice of legal abortion. Measures for the ongoing education of professionals and the monitoring of actions applied to technical norms are recommended