Key Clinical MessageBardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
Introduction: Identification of patients at risk of hereditary cancer is an essential component of oncology practice, since it enables clinicians to offer early detection and prevention programs. However, the large number of hereditary syndromes makes it difficult to take them all into account in daily practice. Consequently, the National Cancer Institute (NCI) has suggested a series of criteria to guide initial suspicion. Objective: It was the aim of this study to assess the perception of the risk of hereditary cancer according to the NCI criteria in our medical oncology service. Methods: We retrospectively analyzed the recordings of the family history in new cancer patients seen in our medical oncology service from January to November 2009, only 1 year before the implementation of our multidisciplinary hereditary cancer program. Results: The family history was recorded in only 175/621 (28%) patients. A total of 119 (19%) patients met 1 or more NCI criteria (1 criterion, n = 91; 2 criteria, n = 23; 3 criteria, n = 4; and 4 criteria, n = 1), and only 14 (11.4%) patients were referred to genetic counseling. Conclusion: This study shows that few clinicians record the family history. The perception of the risk of hereditary cancer is low according to the NCI criteria in our medical oncology service. These findings can be explained by the lack of a multidisciplinary hereditary cancer program when the study was performed
Introduction: Orofacial trauma related with sports happens both in organized or amateur situations. Taking into consideration the group of sports that are collective and of contact, basketball is undoubtedly a sport with a moderate risk of orofacial trauma. Mouthguards can be a preventive measure to reduce the incidence and severity of orofacial trauma, if they are used during sports practice when indicated. Basketball is a sport with a moderate risk to orofacial trauma and the use of mouthguards is still rare in it.Objective: The aim of this investigation is to study a professional basketball team's receptivity to and acceptance of the use of mouthguards during their practices.
Materials and Methods:It was assessed the expectations and opinions of 13 basketball players of Futebol Clube Porto team before and after the use of a custom-made mouthguard. The custom-made mouthguard was produced by the Erkoform 3D Motionwith the Occluform-3 accessory using 2 plaques of ethyl vinyl acetate, 4mm and 2mm thickness.Results: Only one player had used a mouthguard before. There was a change for a better opinion in 'adaptation' and 'retention' which showed statistically significant differences before and after the use of the custom-made mouthguard, p=0,045 and p=0,025 respectively. Breathing, communication and salivation didn't show any statistically significant differences. About 76.9% of the players would recommend the use of the testedcustom-made mouthguard for playing basketball.
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