Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.

Williams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions. There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.

University students' knowledge and perceived adequate conduct in cases of acute stroke / Conhecimento dos estudantes universitários e percepção da conduta adequada em casos acidente vascular cerebral

The ability of the general population to recognize the initial symptoms of acute stroke is important for the prevention of neurological damage. The objective of this study was to investigate the knowledge held by university students in health fields and what they perceived was adequate conduct after recognizing that someone is having an acute stroke. The students took a semi-structured, two-part questionnaire, with the first part referring to social and demographic data and the second containing a description of stroke's typical clinical presentation and open-ended questions about it. Of the participants, 86.24% were able to recognize stroke. When comparing the initial and final years, the students in their final years had approximately a 10% increase in stroke recognition. Regarding the perceived correct conduct, it was observed that 84.60% of the students in the initial years would have the right conduct compared to 89.32% of the students in the final years. Even though a high percentage of students demonstrated some knowledge about stroke it is important that we aspire to further educate them about the subject, enabling them to eventually contribute to the general population's education and to promote health.

O reconhecimento dos sintomas iniciais pela população leiga é importante na prevenção de sequelas decorrentes do AVC. O objetivo desse trabalho foi verificar o conhecimento e conduta dos universitários em casos de AVC. Foi aplicado um questionário semi-estruturado aos estudantes, sendo este referente a dados sócios demográficos e a um caso clinico básico, onde o paciente apresentava sintomas clássicos de um AVC com perguntas discursivas onde se averiguava sobre o reconhecimento da doença. Dos participantes, 86,24% souberam reconhecer um AVC e comparando-se por séries mostrou que nas finais há um incremento em torno de 10%. Observou-se que 84,60% dos alunos das series inicias, e 89,32% das finais teriam uma conduta correta. Apesar da maioria apresentar conhecimento do AVC, bem como a conduta a ser utilizada, a importância de que este número seja maior, uma vez que, poderão contribuir para a educação da população e a promoção da saúde.