This work proposes a real-time monitoring tool aimed to support clinicians for remote assessing exercise performances during home-based rehabilitation. The study relies on clinician indications to ...define kinematic features, that describe five motor tasks (i.e., the lateral tilt of the trunk, lifting of the arms, trunk rotation, pelvis rotation, squatting) usually adopted in the rehabilitation program for axial disorders. These features are extracted by the Kinect v2 skeleton tracking system and elaborated to return disaggregated scores, representing a measure of subjects performance. A bell-shaped function is used to rank the patient performances and to provide the scores. The proposed rehabilitation tool has been tested on 28 healthy subjects and on 29 patients suffering from different neurological and orthopedic diseases. The reliability of the study has been performed through a cross-sectional controlled design methodology, comparing algorithm scores with respect to blinded judgment provided by clinicians through filling a specific questionnaire. The use of task-specific features and the comparison between the clinical evaluation and the score provided by the instrumental approach constitute the novelty of the study. The proposed methodology is reliable for measuring subject’s performance and able to discriminate between the pathological and healthy condition.
Abstract
Loss of sensation is one of the most feared complications of breast reduction surgery. Although several techniques have been proposed to maximize sensitivity preservation, the scientific ...literature still reports contradictory findings. This systematic review aimed to assess whether breast reduction mammaplasty is associated with measurable changes in breast sensation. This review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed (National Institutes of Health, Bethesda, MD), Scopus (Elsevier, Amsterdam, the Netherlands), and Web of Science (Clarivate, Philadelphia, PA) databases were searched for clinical studies investigating breast sensation after breast reduction mammaplasty. The initial search identified 1523 studies of which 22 articles met our specific inclusion criteria. Most of the included studies are consistent in describing only transient sensation decrease or even sensation improvement after surgery compared to the presurgery condition with any approach, except those investigating outcomes after superior or superolateral pedicle reduction mammaplasty. Nevertheless, the overall quality of evidence is low or very low due to the limited availability of randomized controlled trials or controlled studies and the high risk of bias.
Level of Evidence: 4
The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for ...recessively inherited dystonic disorders (OMIM:619565).
Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken.
Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T p.Arg401Trp).
These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.
•Recessively inherited dystonia syndromes are underreported.•We confirm AOPEP biallelic variants as a new cause of recessive dystonia.•The AOPEP-related condition includes generalized dystonia and dystonia-parkinsonism.•In addition to loss-of-function mutations, rare AOPEP missense variants may also be disease-causing.
Purpose
To investigate the safety, efficacy and effectiveness of botulinum toxin type-B (BTX-B) injections into the parotid glands to reduce drooling in Parkinson’s disease (PD) subjects.
Methods
A ...double-blind, randomised, placebo-controlled study enrolled 36 advanced phase PD subjects who complained of disabling drooling. Patients received either 4000U BTX-B or placebo. Anatomically guided injections were performed. Outcome measures were chosen to assess both the subjective feeling of improvement (i. e. the Drooling Severity and Frequency Scale, DSFS, visuo-analogic ratings of familial distress, VAS-FD, and social distress, VAS-SD) and objective saliva reduction (saliva production over five minutes was checked by weighing dental rolls). The Global Impression Score (GIS) was also applied, rating improvement from 0 to 3.
Results
One month after injections, BTX-B patients showed a meaningful improvement in almost all subjective outcomes. Two-way analysis of variance gave a significant time × treatment effect, F-value being 52.5 (p < 0.0001) for DS-FS, 23.2 (p < 0.0001) for VAS-FD, 29 (p < 0.0001) for VAS-SD, and 28.9 (p < 0.0001) for UPDRSADL drooling item score. All BTX-B subjects declared sialorrhea reduction of any kind (moderate for 44.4 % cases, and dramatic for 33.3 % subjects), at variance with 61.1 % controls who denied any benefit from treatment. (Chi-square = 22.9; p < 0.0001). When present, benefits lasted on average 19.2 ± 6.3 weeks in the BTX-B group compared to 6.7 ± 1.4 weeks in controls (T-value: 26.4; p < 0.0001).
Conclusions
BTXB represents a safe and efficacious tool for the management of PDrelated drooling, ensuring a longlasting waning of this disabling symptom.
In spite of being considered the gold-standard of care, little is known about the real-life use of in-home and multidisciplinary care in atypical parkinsonism.
Primary: Examine real-life ...multidisciplinary care use for Progressive Supranuclear Palsy (PSP). Secondary: a) Compare PSP care to advanced Parkinson's disease (APD) care; (b) Explore demographic and clinical variables associated with care needs in both groups.
A cross-sectional multicenter observational study enrolled 129 PSP patients and 65 APD patients (Hoehn and Yahr ≥3), matched for sex and age. Univariate and multivariate regression analysis were performed.
Over the previous year, 40 % of PSP patients did not encounter a physical therapist, while only one-third met a speech and language therapist and 5 % an occupational therapist. More than 20 % received in-home care and 32 % needed home structural changes. Compared to APD, PSP patients required more day-time, night-time and home structural changes. When considering both PSP and APD in multivariate analysis, reduced functional autonomy and living without a family caregiver were both related to day-time home assistance and to the need of at least one home care service. A PSP diagnosis compared to APD was a risk factor for having at least four multidisciplinary visits in a year. Finally, PSP diagnosis and being from the Northern Italy were significantly related with home structural changes.
There's a significant gap in providing multidisciplinary care for PSP patients. Our findings emphasize the need for a shared, integrated care plan at a national level for patients with atypical parkinsonism.
•Multidisciplinary care use was explored in PSP.•40 % did not encounter a physical therapist.•32 % needed home structural changes.•Living without a family caregiver was related to day-time home assistance.
Software-based measurements of postural abnormalities in Parkinson's disease (PD) are the gold standard but may be time-consuming and not always feasible in clinical practice. Wall goniometer (WG) is ...an easier, quicker, and inexpensive instrument for screening patients with postural abnormalities, but no studies have investigated its validity so far. The aim of this study was to investigate the validity of the WG to measure postural abnormalities.
A total of 283 consecutive PD outpatients with ≥5° forward trunk, lateral trunk or forward neck bending (FTB, LTB, FNB, respectively) were recruited from seven centers for movement disorders. Postural abnormalities were measured in lateral and posterior view using a freeware program (gold standard) and the WG. Both angles were expressed in degrees (°). Sensitivity and specificity for the diagnosis of camptocormia, Pisa syndrome, and anterocollis were assessed.
WG showed good to excellent agreement (intraclass correlation coefficient from 0.80 to 0.98) compared to the gold standard. Bland-Altman plots showed a mean difference between the methods from −7.4° to 0.4° with limits of agreements from −17.7° to 9.5°. Sensitivity was 100% for the diagnosis of Pisa syndrome, 95.74% for anterocollis, 76.67% for upper camptocormia, and 63.64% for lower camptocormia. Specificity was 59.57% for Pisa syndrome, 71.43% for anterocollis, 89.80% for upper camptocormia, and 100% for lower camptocormia. Overall, the WG underestimated measurements, especially in lower camptocormia with an average of −8.7° (90% of cases).
WG is a valid tool for screening Pisa syndrome and anterocollis, but approximately 10° more should be added for camptocormia.
•WG showed good to excellent agreement as compared with the gold standard.•WG has an excellent sensitivity for screening of Pisa syndrome and anterocollis.•WG underestimated the measures of upper camptocormia by −6.1° on average.•WG underestimated the measures of lower camptocormia by −8.7°on average.•Approximately 10° more should be added when measuring camptocormia.
Abstract Background Weight loss affects more than 50% of subjects suffering from Parkinson's Disease (PD) and is associated with reduced life expectancy. The pathogenesis is multifactorial and the ...mechanism of PD metabolism control is unresolved. This cross-sectional study aimed to ascertain the relationship between rest energy expenditure (REE), PD duration, Hoehn & Yahr (H&Y) stage, drug therapy and body mass index (BMI), in order to determine possible predictors of weight loss. Methods We studied fifty-eight PD subjects, after excluding conditions with a known influence on metabolism and weight (severe tremor, dyskinesias, dementia, fever, on-going infections, thyroid disease, and dysphagia). Subjects underwent REE measurement, through indirect calorimetry, in both the OFF state (12 h fasting and off medications) and in the ON state (60 min after taking dopaminergic drugs). Results OFF state . In the majority of PD patients REE values did not differ from those expected (based upon age, gender and BMI), being significantly higher in subjects in H&Y stage IV than H&Y stage II ( t = 3.5; p = 0.001). Disease duration and rigidity were significantly associated with increased REE ( r2 = 0.31, F = 3.6; p = 0.0045). ON state . REE decreased by approximately 8% in all subjects, irrespective of disease duration or H&Y stage. BMI was inversely related to disease duration and UPDRS motor score in the OFF state and directly related to UPDRS motor score in the ON state ( r2 = 0.333, F = 3.5; p = 0.003). Conclusions In PD REE increases as a function of disease duration; its adverse role in the decrease in BMI seems to be compensated for by dopaminergic medication.
Postural instability is a cardinal feature of Parkinson's disease, together with rest tremor, rigidity and bradykinesia. It is a highly disabling symptom that becomes increasingly common with disease ...progression and represents a major source of reduced quality of life in patients with Parkinson's disease. Rehabilitation aims to enable patients with Parkinson's disease to maintain their maximum level of mobility, activity and independence. To date, a wide range of rehabilitation approaches has been employed to treat postural instability in Parkinson's disease, including robotic training. Our main aim was to conduct a systematic review of current literature about the effects of robot-assisted gait training on postural instability in patients with Parkinson's disease.
A systematic search using the following MeSH terms "Parkinson disease," "postural balance," "robotics," "rehabilitation" AND string "robotics mh" OR "robot-assisted" OR "electromechanical" AND "rehabilitation mh" OR "training" AND "postural balance mh" was conducted on PubMed, Cochrane Library and Pedro electronic databases. Full text articles in English published up to December 2020 were included. Data about patient characteristics, robotic devices, treatment procedures and outcome measures were considered. Every included article got checked for quality. Level of evidence was defined for all studies.
Three authors independently extracted and verified data. In total, 18 articles (2 systematic reviews, 9 randomized controlled trials, 4 uncontrolled studies and 3 case series/case reports) were included. Both end-effector and exoskeleton devices were investigated as to robot-assisted gait training modalities. No clear relationship between treatment parameters and clinical conditions was observed. We found a high level of evidence about the effects of robot-assisted gait training on balance and freezing of gait in patients with Parkinson's disease.
This systematic review provides to the reader a complete overview of current literature and levels of evidence about the effects of robot-assisted gait training on postural instability issues (static and dynamic balance, freezing of gait, falls, confidence in activities of daily living and gait parameters related to balance skills) in patients with Parkinson's disease.
Dysphagia is a critical symptom of Neuromuscular Diseases and is often associated with considerable morbidity and mortality.
This study is designed to investigate the prevalence of dysphagia and to ...identify different clinical profiles of swallowing disorders in Myotonic Dystrophy type 1 (DM1) and Amyotrophic Lateral Sclerosis (ALS), the most common Neuromuscular Diseases in the adult age.
Consecutive DM1 and ALS patients from 2013 to 2015 referred to a Centre for Neuromuscular Disease were enrolled. A comprehensive assessment of swallowing function with a Clinical Swallowing Examination and Fluid and Food Trials was performed.
157 patients were included: 86 ALS, 71 DM1. The dysphagic patients affected by ALS and DM1 (79% and 86% of the respective samples) showed two different profiles. ALS patients with dysphagia were older and underweight. They experienced a global dysfunction of the oral and pharyngeal phases with more difficulty in swallowing thin liquids. Conversely, DM1 patients with dysphagia were younger and tended to obesity. Most of them showed impairment of oral phase and had more frequently difficulty in swallowing solid bolus.
The recognition of specific clinical profiles supports and guides the detection of swallowing disorders in patients with neuromuscular diseases.
