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.
The recommendations for the management of osteoarthritis (OA) of the knee firstly proposed by the EULAR in 2000, have been updated in 2003. One of the most important objectives of the expert charged to provide these recommendations was their dissemination. Thus, the information generated may be used by each individual country to produce their own set of management guidelines and algorithms for treatment in primary care. The Italian Society of Rheumatology (SIR) and the Italian League against Rheumatism (LIMAR) have organised a Consensus on the EULAR recommendations 2003 with the aim to analyse their acceptability and the applicability according to our own experience and local situations in the Italy. The results of this Consensus have demonstrated that a large majority of the EULAR recommendations are endorsed by the Italian experts. Furthermore, the final document of the Italian Consensus clearly indicated the need that the specialists involved in the management of knee OA strongly encourage the dissemination of the EULAR 2003 recommendations also in Italy
ABSTRACT: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.
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