Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature

Pompe disease (PD) is a rare neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase. There are three forms of PD depending on the age at onset and clinical severity. PD causes involvement of different organ systems, such as the heart, musculoskeletal system, and respiratory system. As of today, enzymere placement therapy represents the main therapeutic tool for PD. Rehabilitation is an integral part of a multidisciplinary approach to this pathology. The goal of the present review is to find scientific evidence for the rehabilitative approach to PD, with respect to both the infantile- and adult-onset forms. A systematic literature review was made using the following databases: Pubmed, Pedro, Cochrane Library, EDS Base Index, Trip, and Cinhal. Randomized controlled trials or cohort studies with a sample population of at least six subjects were retrieved. The PICO method was used to formulate the clinical query. The search resulted in 1665 articles. Of these, four cohort studies were subjected to the final phase of the review. Three studies regarded inspiratory muscle training with a threshold, while the fourth study analyzed the effectiveness of therapeutic, aerobic, and reinforcement exercises. Inspiratory muscle training with a threshold increases the pressures generated during inhalation. Aerobic exercise is capable of increasing patients’ muscular endurance and performance. To date, however, rehabilitative treatment for patients with PD has no validation in evidence-based medicine. Further studies, possibly with a larger sample size and higher quality are necessary to confirm the effectiveness of rehabilitation in patients with PD

Home Exercise Program is an effective tool in improving upper limb function and quality of life in breast cancer survivors: A retrospective observational study

Background: Home Exercise Program is a mainstay of upper limb dysfunction prevention in breast cancer survivors. However, only subjective assessment instruments have been used until now in order to prove its effectiveness. In the present observational retrospective study, we assessed, for the first time, the effects of Home Exercise Program on the upper limb function of breast cancer survivors via tridimensional motion analysis. We also aimed to show that good upper extremity performance positively influenced the quality of life of breast cancer survivors. Methods: From the 2016 database of breast cancer survivors who underwent upper limb tridimensional motion analysis 1 and 3 months after modified radical mastectomy, we enrolled 15 patients who spontaneously refused to undergo the post-surgical 14-day Home Exercise Program (group A). In addition, 15 patients who were homogeneous to those of group A, but who agreed to normally undergo Home Exercise Program were selected from the same database, in order to compare upper limb performance (group B). The Constant-Murley, Brief Fatigue Inventory and European Organization for Research and Treatment of Cancer quality of life scores during follow-up were analysed and compared. Results: Compared to those in group A, on tridimensional motion analysis, patients in group B showed a wider range of motion of the upper limb, with consequently better shoulder and elbow performance, lower incidence of lymphedema, minor fatigue, and better quality of life. Conclusions: We show objectively, by means of tridimensional motion analysis, that Home Exercise Program is an effective tool for preventing upper extremity dysfunction in breast cancer survivors. Hence, it should always be recommended to such patients as it positively influences their quality of life

Cervical dystonia patients display subclinical gait changes

Gait disorders in cervical dystonia (CD) are reported in patients under DBS or in severe cases complicated with spinal deformities

Onde d'urto e spasticità: nuove prospettive

Nel volume vengono trattate tutte le tematiche relative alle paralisi cerebrali infantili , alle possibilità diagnostiche e soprattutto al ruolo della fiosioterapia e delle onde d'urto