The Role of Appearance in Adolescents’ Experiences of Neurofibromatosis Type 1: A Survey of Young People and Parents

© 2016, National Society of Genetic Counselors, Inc. Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees of visible difference (disfigurement). Adolescence is a time when appearance concerns become more salient for many young people and is acknowledged as a particularly challenging time for individuals with NF1. There is currently little research into the psychosocial impact of the appearance changes associated with NF1 during this stage of life. In order to address this, surveys of young people with NF1 aged 14–24years (n=73), and parents of young people with NF1 (n=55) were developed following interview studies with these groups. The surveys included the Perceived Stigma Questionnaire, Social Comfort Questionnaire, Body Esteem Scale (appearance subscale) and the Subjective Happiness Scale. Young people and parents identified appearance as central to young peoples’ experience of NF1, however no significant difference was found on measures of body esteem, happiness, stigma or social comfort between those young people who reported their NF1 was noticeable to others and those who reported it was not. Findings from the parent survey indicated that their reports of greater perceived noticeability did relate to greater perceived stigma and lower levels of social comfort. Findings highlight the importance of attending to young people’s concerns around appearance in general and managing the possibility of future appearance changes, rather than the current noticeability of NF1

Dual mobility total hip arthroplasty in the treatment of femoral neck fractures: A retrospective evaluation at mid-term follow-up

Background and aim of the work: Partial or total hip replacement is the method of choice for displaced femoral neck fractures (FNF) treatment. Dislocation is a major complication, accounting for about 3.8% of cases for hemiarthroplasty (HA) and 10% for total hip arthroplasty (THA). Dual-mobility (DM) socket in total hip arthroplasty showed a very low rate of dislocation in both primary and revision setting THA. Some literature reports show good results with low dislocation rates also in FNF treatment at short term follow-up. Aim of the study was to evaluate clinical and radiographic results of DM-THA in FNF treatment at mid-term follow up. Methods: Study population counted 31 implants in 30 patients treated with DM-THA for FNF between January 2010 and December 2012. Dislocation rate was identified, and HHS and OHS were completed. Twenty-four patients underwent also radiographic evaluation to assess cup integration and sings of loosening. Results: No episodes of hip dislocation nor intraprosthetic dislocation were found. Other postoperative complications were recorded in 9,67%. HHS and OHS showed a mean value of 81,22 and 37,37, respectively. There were no cases of clinical and radiographic signs of implant loosening. Conclusions: The present study confirms the good clinical results, low complications and very low dislocation rate with DM THA for FNF treatment