Do Patients with Parkinson's Disease Benefit from Dynamic Body Weight Support? A Pilot Study on the Emerging Role of Rysen.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor alterations. Typical motor symptoms include resting tremors, bradykinesia (hypokinesia or akinesia), muscular stiffness, gait alterations, and postural instability. In this context, neurorehabilitation may have a pivotal role in slowing the progression of PD, using both conventional and innovative rehabilitation approaches. Thirty patients (15 males and 15 females) affected by PD were enrolled in our study. We randomly divided the patients into two groups, an experimental group (EG) and a control group (CG). In particular, the EG performed gait and balance training using the Rysen system, which is an innovative body weight support (BWS) system, whilst the CG received conventional physiotherapy. Both groups underwent 20 sessions, five times weekly, with each session lasting about 40 min. At the end of the training sessions (T1), we found that both groups (EG and CG) achieved clinical improvements, although the EG showed better scores for post-treatment regarding global motor functioning and postural stability compared to the CG. In conclusion, our results suggest that the Rysen system, which is an innovative BWS tool, could be considered a valid device for improving postural control and global motor functions, when compared to conventional gait training, in patients affected by PD.

Pneumonia in a Teenager Hiding a Fire-Eating Stunt.

Pneumonia in children due to hydrocarbon aspiration is usually the result of an uncommon accidental event. However, an acute and severe type of pneumonia induced by hydrocarbon aspiration is occasionally experienced by entertainers known as fire-eaters. Different approaches to treat fire-eater's pneumonia appear in the literature. Although there is no consensus regarding the management of this condition, the use of antibiotic therapy is well recognized and recommended by some, whereas others recommend only supportive treatment. Steroids are indicated in severe cases.Here, we report the case of a boy who developed severe pneumonia after inhaling hydrocarbons during an attempt to mimic a fire-eater show. Slow resolution was achieved after broad-spectrum antibiotic therapy in addition to systemic and inhaled steroids and physiotherapy.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.