Lower-limb amputees can reduce the energy cost of walking when assisted by an Active Pelvis Orthosis

Exoskeletons could compete with active prostheses as effective aids to reduce the increased metabolic demands faced by lower-limb amputees during locomotion. However, little evidence of their efficacy with amputees has been provided so far. In this paper, a portable hip exoskeleton has been tested with seven healthy subjects and two transfemoral amputees, with the final goal to verify whether a hip flexion-extension assistance could be effective in reducing the metabolic cost of walking. The metabolic power of the participants was estimated through indirect calorimetry during alternated repetitions of three treadmill-based walking conditions: without the exoskeleton (NoExo), with the exoskeleton in zero-torque mode (ExoTM) and with the exoskeleton providing hip flexion-extension assistance (ExoAM). The results showed that the exoskeleton reduced the net metabolic power of the two amputees in ExoAM with respect to NoExo, by 5.0% and 3.4%. With healthy subjects, a 5.5±3.1% average reduction in the metabolic power was observed during ExoAM compared to ExoTM (differences were not statistically significant), whereas ExoAM required 3.9±3.0% higher metabolic power than NoExo (differences were not statistically significant). These results provide initial evidence of the potential of exoskeletal technologies for assisting lower-limb amputees, thereby paving the way for further experimentations

Robot-mediated overground gait training for transfemoral amputees with a powered bilateral hip orthosis: a pilot study

Background: Transfemoral amputation is a serious intervention that alters the locomotion pattern, leading to secondary disorders and reduced quality of life. The outcomes of current gait rehabilitation for TFAs seem to be highly dependent on factors such as the duration and intensity of the treatment and the age or etiology of the patient. Although the use of robotic assistance for prosthetic gait rehabilitation has been limited, robotic technologies have demonstrated positive rehabilitative effects for other mobility disorders and may thus offer a promising solution for the restoration of healthy gait in TFAs. This study therefore explored the feasibility of using a bilateral powered hip orthosis (APO) to train the gait of community-ambulating TFAs and the effects on their walking abilities. Methods: Seven participants (46–71 years old with different mobility levels) were included in the study and assigned to one of two groups (namely Symmetry and Speed groups) according to their prosthesis type, mobility level, and prior experience with the exoskeleton. Each participant engaged in a maximum of 12 sessions, divided into one Enrollment session, one Tuning session, two Assessment sessions (conducted before and after the training program), and eight Training sessions, each consisting of 20 minutes of robotically assisted overground walking combined with additional tasks. The two groups were assisted by different torque-phase profiles, aiming at improving symmetry for the Symmetry group and at maximizing the net power transferred by the APO for the Speed group. During the Assessment sessions, participants performed two 6-min walking tests (6mWTs), one with (Exo) and one without (NoExo) the exoskeleton, at either maximal (Symmetry group) or self-selected (Speed group) speed. Spatio-temporal gait parameters were recorded by commercial measurement equipment as well as by the APO sensors, and metabolic efficiency was estimated via the Cost of Transport (CoT). Additionally, kinetic and kinematic data were recorded before and after treatment in the NoExo condition. Results: The one-month training protocol was found to be a feasible strategy to train TFAs, as all participants smoothly completed the clinical protocol with no relevant mechanical failures of the APO. The walking performance of participants improved after the training. During the 6mWT in NoExo, participants in the Symmetry and Speed groups respectively walked 17.4% and 11.7% farther and increased walking speed by 13.7% and 17.9%, with improved temporal and spatial symmetry for the former group and decreased energetic expenditure for the latter. Gait analysis showed that ankle power, step width, and hip kinematics were modified towards healthy reference levels in both groups. In the Exo condition metabolic efficiency was reduced by 3% for the Symmetry group and more than 20% for the Speed group. Conclusions: This study presents the first pilot study to apply a wearable robotic orthosis (APO) to assist TFAs in an overground gait rehabilitation program. The proposed APO-assisted training program was demonstrated as a feasible strategy to train TFAs in a rehabilitation setting. Subjects improved their walking abilities, although further studies are required to evaluate the effectiveness of the APO compared to other gait interventions. Future protocols will include a lighter version of the APO along with optimized assistive strategies

Erratum to: 36th International Symposium on Intensive Care and Emergency Medicine

[This corrects the article DOI: 10.1186/s13054-016-1208-6.]

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access

Coupling an Active Pelvis Orthosis with Different Prosthetic Knees While Transfemoral Amputees Manage a Slippage: A Pilot Study

This pilot study aimed at testing the hypothesis that the effectiveness of an Active Pelvis Orthosis (APO)—mediated strategy to counteract the fall risk in transfemoral amputees (TFAs) can depend on the adopted prosthetic knee. Two TFAs with good and similar functional capabilities (k-level = 3) were asked to manage unexpected slipping like perturbations: the first used a hydraulic knee; the second a microprocessor-controlled knee. Results revealed that the APO-mediated strategy against the fall risk was more effective in the second participant. Accordingly, the adopted prosthetic knee seems to significantly condition the overall balance response despite the balance recovery is supposed to be mainly driven by the APO assistance. Therefore, the prosthetic knee should be considered a confounding factor for these types of experiments and its relevance deserves further investigations

Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples

Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID) and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs) along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies and 9p23p22.3 deletions are reviewed as examples of conditions in the first group. In particular, we found that craniosynostosis is a relatively common component manifestation of cardio-facio-cutaneous (CFC) syndrome. Chromatinopathies and neurocristopathies are presented as examples of conditions in the second group. We observed that craniosynostosis is uncommon on average in these conditions. It was randomly associated with Kabuki, Koolen-de Vries/KANSL1 haploinsufficiency and Mowat-Wilson syndromes and in KAT6B-related disorders. As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. Surveillance for craniosynostosis in syndromic forms of intellectual disability, as well as ascertainment of genomic CNVs by array-CGH in apparently non-syndromic craniosynostosis is recommended, to allow for improvement of both the clinical outcome of patients and the accurate individual diagnosis

High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines

The development of high-throughput sequencing technologies and screening of big patient cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification of a significant number of genetic variants, which are sometimes difficult to interpret. The American College of Medical Genetics and Genomics (ACMG) provided guidelines to help molecular geneticists and pathologists to interpret variants found in laboratory testing. We assessed the application of the ACMG criteria to ALS-related variants, combining data from literature with our experience. We analyzed a cohort of 498 ALS patients using massive parallel sequencing of ALS-associated genes and identified 280 variants with a minor allele frequency < 1%. Examining all variants using the ACMG criteria, thus considering the type of variant, inheritance, familial segregation, and possible functional studies, we classified 20 variants as \u201cpathogenic\u201d. In conclusion, ALS\u2019s genetic complexity, such as oligogenic inheritance, presence of genes acting as risk factors, and reduced penetrance, needs to be considered when interpreting variants. The goal of this work is to provide helpful suggestions to geneticists and clinicians dealing with ALS

Increased symmetry of lower-limb amputees walking with concurrent bilateral vibrotactile feedback

Gait asymmetry in lower-limb amputees can lead to several secondary conditions that can decrease general health and quality of life. Including augmented sensory feedback in rehabilitation programs can effectively mitigate spatiotemporal gait irregularities. Such benefits can be obtained with non-invasive haptic systems representing an advantageous choice for usability in overground training and every-day life. In this study, we tested a wearable tactile feedback device delivering short-lasting (100 ms) vibrations around the waist syncronized to gait events, to improve the temporal gait symmetry of lower-limb amputees. Three above-knee amputees participated in the study. The device provided bilateral stimulations during a training program that involved ground-level gait training. After three training sessions, participants showed higher temporal symmetry when walking with the haptic feedback in comparison to their natural walking (resulting symmetry index increases of +2.8% for Subject IDA, +12.7% for Subject IDB and +2.9% for Subject IDC). One subject retained improved symmetry (Subject IDB, +14.9%) even when walking without the device. Gait analyses revealed that higher temporal symmetry may lead to concurrent compensation strategies in the trunk and pelvis. Overall, the results of this pilot study confirm the potential utility of sensory feedback devices to positively influence gait parameters when used in supervised settings. Future studies shall clarify more precisely the training modalities and the targets of rehabilitation programs with such devices

Matrin 3 variants are frequent in Italian ALS patients

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Recently, missense variants in MATR3 were identified in familial and sporadic ALS patients, but very few additional ALS patients have been reported so far. The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. Here, we assessed the contribution of MATR3 variants in a cohort of 322 Italian ALS patients. We identified 5 different missense MATR3 variants (p.Q66K, p.G153C, p.E664A, p.S707L, and p.N787S) in 6 patients (1.9%). None of our patients showed signs of myopathy at electrophysiological examination. Muscle biopsy, performed in 2 patients, showed neurogenic changes and normal nuclear staining with anti-matrin 3 antibody. Our results confirm that MATR3 variants are associated with ALS and suggest that they are more frequent in Italian ALS patients. Further studies are needed to elucidate the pathogenic significance of identified variants in sporadic and familial ALS