Adulthood with Turner Syndrome: Quality of life, psychosocial adjustment and clinical management in 70 Italian women

Abstract Background: Turner syndrome (TS) is a chromosomal abnormality (total or partial absence of one of the sexual chromosomes in some or all cells of the body), which affects approximately 1:2000 female. Principal characteristics are short stature and gonadal disgenesis. Clinical management consist of Growth Hormone (GH) treatment and oestrogen replacement therapy (HRT), to induce development of secondary characteristics and to avoid the sequelae of oestrogen deficiency. Aim of the study: To assess clinical management, quality of life (QoL) and general psychosocial adjustment of women with TS. Population: 70 adult Caucasian females with TS (mean age: 27.8, ± 7.6; range 18-48 y.). Setting: Specialist service for Rare Disease care, University Hospital. Methods: Subjects were required to fill in questionnaires collecting ASR, WHOQOL, and 8 open questions. Data were compared with those of the Italian population or to those collected in a comparison group (70 healthy females, mean age: 27.9, ±7.3, range 21-48 y.). Results: Women with TS are educated as well as the Italian Population, but they have a less successful professional life. They show good QoL in general, but they appeared less satisfied in social area. They had statistically higher scores than the comparison group for depression, anxiety and withdrawal. Are less involved in a love relationship. Diagnosis communication was mostly performed by doctors or parents, satisfaction was higher when information was given by parents. Main preoccupation about TS are infertility, feeling of being different and future health problem. Conclusions: Italian people with TS were generally well adapted and have a good QoL, but lived more often with parents and show impaired sentimental and sexual life. They have higher degree of psychological distress compared to a comparison group. Psychological intervention should firstly address parents in order to encourage an open communication on diagnosis issues and on sexual education.

Physical activity and osseointegration: "step forward" to improve the quality of life of a trans-femoral amputee person

Lower limb amputation is an event that inevitably changes the lifestyle of the person with a significant impact on quality of life. The socket-type prosthesis entails that the residual limb is in direct contact with the socket which often implies numerous disadvantages. Osseointegrated prosthesis is a solution that avoids skin problems because not include the presence of the socket. In this type of prosthesis, a stem is surgically inserted inside the medullary canal and connected with the external prosthetic limb. Therefore, this thesis aims to highlight and explore the main strengths and problems of osseointegrated prostheses and to examine the role of physical activity, with attention to functional capacity and bone quality. The objectives of the thesis will be developed through 5 studies: (I) A gait analysis of a 44 years-old male patient who underwent surgery for the implantation of an osseointegrated prosthesis; (II) A systematic review to investigate the state of stump bone quality in patients with limb amputations; (III) A systematic review of the technologies involved in such devices has been carried out to identify the most fruitful ones in improving bone quality; (IV) A systematic review investigating the topic of physical activity and bone turnover biomarkers; (V) A systematic review to investigate the effects of physical activity interventions combined with drug treatments on bone biomarkers in people with osteopenia and osteoporosis. The integrated prosthesis is a good solution for people with lower limb amputation who cannot use their traditional socket-type prosthesis. Although many objectives have already been achieved, there are still many aspects that we can improve. These include the creation of a multidisciplinary path that support patients along their path, with particular attention to the pre-surgery and the post-rehabilitation phase that is still lacking even if of fundamental impact in determining the quality of life.