Alzheimer cafè: toward bridging the gap between cure and care in patients with dementia.

BACKGROUND: Alzheimer's disease (AD) is the most common form of degenerative dementia, whose symptoms usually appear in the pre-senile age. In the early stages, patients present social difficulties due to the general cognitive decline in memory, language and executive domains. These problems also affect patients' quality of life, emotions, and mood, leading to social isolation. OBJECTIVE: The aim of this study is to evaluate the effects of Alzheimer's Cafè (AC) on the cognitive and behavioral outcomes of AD patients. METHODS: Twenty patients diagnosed with AD, who attended the Cognitive and Behavioral Rehabilitation Laboratory of the IRCCS Centro Neurolesi 'Bonino-Pulejo' of Messina, Italy, from December 2017 to December 2018, were enrolled in this study. As these patients belonged to the experimental group (EG: n = 20), they received specific cognitive-behavior training using the AC modality. The patients were assessed by a neuropsychological evaluation at the beginning and at the end of the program. Their outcomes were compared to a matched group of patients with neurodegenerative dementia (CG: 20) receiving conventional cognitive training. RESULTS: The pre-post comparisons showed that both CG and EG had a significant improvement in global cognitive functioning (MoCA p < 0.001) and in perceived quality of life (<0.001). However, only in the EG, we observed a significant increase in social functioning (SASS p < 0.00), the perception of mental well-being (SF-12 Mental p < 0.00), and a reduction in the depressive state (GDS p < 0.00). CONCLUSIONS: The present study suggests the importance of AC for patients with AD and the potential effect on psychological and social well-being.

Haemophilia and Fragility Fractures: From Pathogenesis to Multidisciplinary Approach.

Haemophilia A (HA) and haemophilia B (HB) are X-linked inherited bleeding disorders caused by the absence or deficiency of coagulation factors VIII (FVIII) and IX (FIX), respectively. Recent advances in the development of effective treatments for haemophilia have led to a significant increase in life expectancy. As a result, the incidence of some comorbidities, including fragility fractures, has increased in people with haemophilia (PWH). The aim of our research was to perform a review of the literature investigating the pathogenesis and multidisciplinary management of fractures in PWH. The PubMed, Scopus and Cochrane Library databases were searched to identify original research articles, meta-analyses, and scientific reviews on fragility fractures in PWH. The mechanism underlying bone loss in PWH is multifactorial and includes recurrent joint bleeding, reduced physical activity with consequent reduction in mechanical load, nutritional deficiencies (particularly vitamin D), and FVIII and FIX deficiency. Pharmacological treatment of fractures in PWH includes antiresorptive, anabolic and dual action drugs. When conservative management is not possible, surgery is the preferred option, particularly in severe arthropathy, and rehabilitation is a key component in restoring function and maintaining mobility. Appropriate multidisciplinary fracture management and an adapted and tailored rehabilitation pathway are essential to improve the quality of life of PWH and prevent long-term complications. Further clinical trials are needed to improve the management of fractures in PWH.

Improvement of brain functional connectivity in autism spectrum disorder: an exploratory study on the potential use of virtual reality.

Patients with Autism Spectrum Disorder (ASD) need to be provided with behavioral, psychological, educational, or skill-building interventions as early as possible. Cognitive Behavior Therapy has proven useful to manage such problems. There is also growing evidence on the usefulness of Virtual Reality Therapy (VRT) in treating various functional deficits in ASD. This exploratory study is aimed at assessing the changes in cognitive functions in children with ASD, and the putative subtending neurophysiological mechanisms, following the provision of rehab training using an innovative VRT system. Twenty patients with ASD, aged 6-15 years, were provided with 24 sessions of VRT by using the pediatric module of the BTS NIRVANA System. Neuropsychological and EEG evaluations were carried out before and at the end of the training. After VRT, all patients showed a significant improvement in their cognitive-behavioral problems concerning attention processes, visuospatial cognition, and anxiety. These findings were paralleled by an evident reshape of frontoparietal connectivity in the alpha and theta frequency range. Our study suggests that VRT could be a useful and promising tool to improve ASD neurorehabilitation outcomes. This improvement is likely to occur through changes in frontoparietal network connectivity following VRT.

Breaking the ice to improve motor outcomes in patients with chronic stroke: a retrospective clinical study on neuromodulation plus robotics.

BACKGROUND: Stroke is one of the main causes of impairment affecting daily activities and quality of life. There is a growing effort to potentiate the recovery of functional gait and to enable stroke patients to walk independently. AIM: To estimate the effects of dual-site transcranial direct current stimulation (dstDCS) on gait recovery in chronic stroke patients provided with robot-aided gait training (RAGT). METHODS: Thirty-seven patients were included in this retrospective clinical study. Nine patients were provided with dstDCS during the first 10 min of RAGT by using Lokomat®Pro (on-RAGT), 15 patients immediately after RAGT (post-RAGT), and 13 patients immediately before RAGT (pre-RAGT). RESULTS: Each group improved over time concerning disability burden and lower limb strength. on-RAGT and post-RAGT experienced better improvement in balance (p < 0.001) and, moderately, gait endurance (p = 0.04) as compared to pre-RAGT. Furthermore, all treatments decreased the facilitation of the unaffected hemisphere (p < 0.001) and the inhibition of the affected hemisphere (p < 0.001). The duration of such aftereffects was found to be greater for post-RAGT. DISCUSSION AND CONCLUSION: This is the first trial with dstDCS coupled with RAGT in chronic stroke patients with gait impairment. When timely coupled with RAGT, dstDCS may be considered an effective tool for the recovery of lower limb function in patients with first unilateral stroke in the chronic phase. Moreover, our data suggest the ductility of dstDCS concerning RAGT timing, thus making this intervention suitable in a neurorehabilitation setting and well adaptable to patients' needs.

How patients with mild dementia living in a nursing home benefit from dementia cafés: a case-control study focusing on psychological and behavioural symptoms and caregiver burden.

BACKGROUND: Dementia is a syndrome, mainly due to neurodegeneration, affecting cognition, behaviour, feelings and relationships. Pharmacological treatment is still challenging and thus different ways to improve/slow down the disease are necessary. METHODS: Twenty-five subjects with mild dementia, living in a nursing home, and their relatives were invited to attend a dementia cafe, a community group which provides support for families affected by dementia. Each patient was evaluated by a neuropsychologist, through the administration of a specific neuropsychological battery, before and at the end of the study. Their outcomes were compared to a matched group of patients with dementia receiving psycho-counselling. RESULTS: After the dementia cafe meetings, patients showed higher significant changes in mood (P < 0.01), behavioural symptoms (P < 0.001), quality of life (P < 0.001), and caregiver burden (P < 0.001). The control group significantly improved only in quality of life with a reduction of caregiver burden. CONCLUSIONS: Our findings confirm that patients with dementia may benefit from the dementia cafe, especially concerning behavioural symptoms. Moreover, caregivers find these cafés to be welcoming, relaxed places to socialise and access support and information. Future dementia cafés should create programs and comfortable environments answering to the different needs of the patients.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for FSHD, in which FSHD families are classified using the Clinical Comprehensive Evaluation Form (CCEF). A total of 122 index cases showing a classical FSHD phenotype (CCEF, category A) and 110 relatives were selected to test with the receiver operating characteristic (ROC) curve, the diagnostic and predictive value of D4Z4 methylation. Moreover, we performed DNA methylation analysis in selected large families with reduced penetrance characterized by the co-presence of subjects carriers of one D4Z4 reduced allele with no signs of disease or presenting the classic FSHD clinical phenotype. We observed a wide variability in the D4Z4 methylation levels among index cases revealing no association with clinical manifestation or disease severity. By extending the analysis to family members, we revealed the low predictive value of D4Z4 methylation in detecting the affected condition. In view of the variability in D4Z4 methylation profiles observed in our large cohort, we conclude that D4Z4 methylation does not mirror the clinical expression of FSHD. We recommend that measurement of this epigenetic mark must be interpreted with caution in clinical practice.

Theta burst stimulation for the treatment of obsessive-compulsive disorder: a pilot study.

A non-negligible part of patients with obsessive-compulsive disorder (OCD) experiences inadequate response to pharmacological and cognitive therapies. Therefore, new approaches are required to overcome this problem. The present pilot study estimates the capacity of theta burst stimulation (TBS) in reducing OCD symptoms, also focusing on the neurophysiological basis of TBS aftereffects. Ten patients with OCD who were unsatisfactorily responsive to the pharmacological and neuropsychological treatment, participated to the present randomized crossover pilot study, in which they were subjected to a real or sham intermittent TBS (iTBS) paradigm over the left dorsolateral prefrontal cortex (L-DLPFC) as add-on treatment. They were randomly assigned to a real or sham iTBS in a 1:1 allocation ratio. Patients received the TBS treatment every morning, 5 days a week for 1 month, and were clinically and electrophysiologically evaluated (EEG phase synchronization and coherence) before, immediately after (T0), and one (T1), three (T3) and six (T6) months after the end of the TBS treatment. Then, each patient was subjected to the alternative treatment (that was not practiced before), and followed up to 6 months. We found that all the patients improved in OCD symptomatology up to T1, while four among them improved up to T3. These patients were those showing a more extensive reshape of frontal areas phase synchronization and frontoparietal coherence compared to the other participants. Our pilot study suggests that iTBS over L-DLPFC may represent a feasible approach to improve OCD symptoms. The efficacy of iTBS seems to depend on the extent of frontal and frontoparietal connectivity modulation.

Towards Improving Post-SSRI Sexual Dysfunction by Using Nutriceuticals: Lessons from a Case Study.

Post-selective serotonin reuptake inhibitors (SSRIs) sexual dysfunction (PSSD) is a new clinical entity occurring after the antidepressant intake, and it is characterized by the fact that patients continue to present sexual side effects after the discontinuation of the drugs. PSSD mainly consists of hypo-anesthesia of the genital area, loss of libido, and erectile dysfunction. Although different management options have been proposed, there is no consensus on the treatment for this syndrome. Herein we report on a young man affected by PSSD who regained sexual functioning after 3-month treatment with EDOVIS, a dietary supplement containing L-citrulline and other commonly used aphrodisiacs. Clinicians should be aware about the possibility of persistent sexual side effects induced by serotoninergic antidepressants and take into considerations the use of nutraceuticals to overcome PSSD.

Can muscle vibration be the future in the treatment of cerebral palsy-related drooling? A feasibility study.

Background: Drooling is an involuntary loss of saliva from the mouth, and it is a common problem for children with cerebral palsy (CP). The treatment may be pharmacological, surgical, or speech-related. Repeated Muscle Vibration (rMV) is a proprioceptive impulse that activates fibers Ia reaching the somatosensory and motor cortex. Aim: The aim of the study is to evaluate the effectiveness of rMV in the treatment of drooling in CP. Design, setting and population: This was a rater blinded prospective feasibility study, performed at the "Gli Angeli di Padre Pio" Foundation, Rehabilitation Centers (Foggia, Italy), involving twenty-two CP patients affected by drooling (aged 5-15, mean 9,28 ± 3,62). Children were evaluated at baseline (T0), 10 days (T1), 1 month (T2) and 3 months (T3) after the treatment. Methods: The degree and impact of drooling was assessed by using the Drooling Impact Scale (DIS), the Drooling Frequency and Severity Scale (DFSS), Visual Analogue Scale (VAS) and Drooling Quotient (DQ). An rMV stimulus under the chin symphysis was applied with a 30 min protocol for 3 consecutive days. Results: The statistical analysis shows that DIS, DFSS, VAS, DQ improved with significant differences in the multiple comparisons between T1 vs T2, T1 vs T3 and T1 vs T4 (p≤0.001). Conclusion This study demonstrates that rMV might be a safe and effective tool in reducing drooling in patients with CP. The vibrations can improve the swallowing mechanisms and favor the acquisition of the maturity of the oral motor control in children with CP.

Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks.

BACKGROUND: A proper rehabilitation program targeting gait is mandatory to maintain the quality of life of patients with Myotonic dystrophy type 1 (DM1). Assuming that gait and balance impairment simply depend on the degree of muscle weakness is potentially misleading. In fact, the involvement of the Central Nervous System (CNS) in DM1 pathophysiology calls into account the deterioration of muscle coordination in gait impairment. Our study aimed at demonstrating the presence and role of muscle connectivity deterioration in patients with DM1 by a CNS perspective by investigating signal synergies using a time-frequency spectral coherence and multivariate analyses on lower limb muscles while walking upright. Further, we sought at determining whether muscle networks were abnormal secondarily to the muscle impairment or primarily to CNS damage (as DM1 is a multi-system disorder also involving the CNS). In other words, muscle network deterioration may depend on a weakening in signal synergies (that express the neural drive to muscles deduced from surface electromyography data). METHODS: Such an innovative approach to estimate muscle networks and signal synergies was carried out in seven patients with DM1 and ten healthy controls (HC). RESULTS: Patients with DM1 showed a commingling of low and high frequencies among muscle at both within- and between-limbs level, a weak direct neural coupling concerning inter-limb coordination, a modest network segregation, high integrative network properties, and an impoverishment in the available signal synergies, as compared to HCs. These network abnormalities were independent from muscle weakness and myotonia. CONCLUSIONS: Our results suggest that gait impairment in patients with DM1 depends also on a muscle network deterioration that is secondary to signal synergy deterioration (related to CNS impairment). This suggests that muscle network deterioration may be a primary trait of DM1 rather than a maladaptive mechanism to muscle degeneration. This information may be useful concerning the implementation of proper rehabilitative strategies in patients with DM1. It will be indeed necessary not only addressing muscle weakness but also gait-related muscle connectivity to improve functional ambulation in such patients.

Walking to your right music: a randomized controlled trial on the novel use of treadmill plus music in Parkinson's disease.

BACKGROUND: Rhythmic Auditory Stimulation (RAS) can compensate for the loss of automatic and rhythmic movements in patients with idiopathic Parkinson's disease (PD). However, the neurophysiological mechanisms underlying the effects of RAS are still poorly understood. We aimed at identifying which mechanisms sustain gait improvement in a cohort of patients with PD who practiced RAS gait training. METHODS: We enrolled 50 patients with PD who were randomly assigned to two different modalities of treadmill gait training using GaitTrainer3 with and without RAS (non_RAS) during an 8-week training program. We measured clinical, kinematic, and electrophysiological effects of both the gait trainings. RESULTS: We found a greater improvement in Functional Gait Assessment (p < 0.001), Tinetti Falls Efficacy Scale (p < 0.001), Unified Parkinson Disease Rating Scale (p = 0.001), and overall gait quality index (p < 0.001) following RAS than non_RAS training. In addition, the RAS gait training induced a stronger EEG power increase within the sensorimotor rhythms related to specific periods of the gait cycle, and a greater improvement of fronto-centroparietal/temporal electrode connectivity than the non_RAS gait training. CONCLUSIONS: The findings of our study suggest that the usefulness of cueing strategies during gait training consists of a reshape of sensorimotor rhythms and fronto-centroparietal/temporal connectivity. Restoring the internal timing mechanisms that generate and control motor rhythmicity, thus improving gait performance, likely depends on a contribution of the cerebellum. Finally, identifying these mechanisms is crucial to create patient-tailored, RAS-based rehabilitative approaches in PD. TRIAL REGISTRATION: NCT03434496 . Registered 15 February 2018, retrospectively registered.

Toward Improving Poststroke Aphasia: A Pilot Study on the Growing Use of Telerehabilitation for the Continuity of Care.

BACKGROUND: Aphasia is a quite common and very disabling symptom following stroke, negatively affecting patient's quality of life. Aim of the study is to evaluate the effectiveness of a rehabilitation training for aphasia that employ a touch-screen tablet using a virtual reality rehabilitation system (VRRS-Tablet). MATERIAL AND METHODS: Thirty patients with aphasia due to ischemic or hemorrhagic stroke were randomized into either the control or the experimental group and assessed by means of a specific neuropsychological evaluation. The study lasted 6 months and included 2 phases. During the former, the experimental group underwent an experimental linguistic treatment performed using the VRRS-Tablet, while the control group was trained with a traditional linguistic treatment. In the latter, the control groups were delivered to territorial services, while the experimental group was provided with the VRRS-Tablet. RESULTS: The experimental group improves in all the investigated areas, except for writing, while the control group only improves in comprehension, depression, and quality of life. CONCLUSIONS: Our study has demonstrated the effectiveness of a home-based telerehabilitation program specific for poststroke aphasia. The use of telerehabilitation by means of VRRS-Tablet could be one of the best solutions to treat aphasic patients after their discharge, promoting continuity of care by monitoring functional outcomes, maintaining preserved abilities, reducing depression, and improving linguistic functions, besides the psychological well-being.

New versus Old Oral Anticoagulants: How Can We Set the Scale Needle? Considerations on a Case Report.

Ischemic stroke is a complex multifactorial disorder. Anticoagulation is a growing research area, with the main goal of preventing systemic embolization and stroke. We report the case of a 41-year-old woman with antiphospholipid syndrome who was unsuccessfully treated with Dabigatran, a new oral anticoagulant, as she developed a major stroke involving the right carotid artery, due to deep venous thrombosis with pulmonary embolism. We therefore suggest a closer monitoring of the safety and efficacy of dabigatran. Moreover, in the presence of multifactorial causes of pro-coagulation, we believe that warfarin should remain the mainstay of oral anticoagulation.

The Efficacy of Cocoa Polyphenols in the Treatment of Mild Cognitive Impairment: A Retrospective Study.

Background: Mild cognitive impairment (MCI) is characterized by cognition impairment that does not interfere with the usual activities of daily living. It is considered to be a transitional stage between normal aging and dementia. No treatment is available for MCI. Methods: This retrospective cohort study included 55 patients (29 males and 26 females, aged 56-75 years) with a diagnosis of amnestic MCI who attended the Center for Cognitive Disorder and Dementia of the IRCCS Centro Neurolesi Bonino Pulejo (Messina, Italy) between January and December of 2017. As we aimed to evaluate the effect of cocoa polyphenols on cognition, the study population was separated into two groups depending on the change in their Mini-Mental State Examination (MMSE) score at a one-year follow-up. Results: Compared to G2 (i.e., patients with a worsening in cognitive functions), the rate of polyphenol intake was significantly higher in patients without a worsening in cognition (i.e., G1) (χ2 = 13.79, df = 1, p-value < 0.001). By subdividing G1 patients based on whether they improved or were stable at follow-up, we found that 46.2% of those who had improved were treated with polyphenols. Conclusions: Dietary supplementation of cocoa flavonoids seems to reduce the progression of MCI to dementia. Further prospective studies with larger sample volumes are required to confirm these promising findings.

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fatigability) are mentioned by the majority of patients with frank hypothyroidism. Often underestimated is the fact that muscle symptoms may represent the predominant or the only clinical manifestation of hypothyroidism, raising the issue of a differential diagnosis with other causes of myopathy, which sometimes can be difficult. Elevated serum creatine kinase, which not necessarily correlates with the severity of the myopathic symptoms, is certainly suggestive of muscle impairment, though it does not explain the cause. Rare muscular manifestations, associated with hypothyroidism, are rhabdomyolysis, acute compartment syndrome, Hoffman's syndrome and Kocher-Debré-Sémélaigne syndrome. Though the pathogenesis of hypothyroid myopathy is not entirely known, proposed mechanisms include altered glycogenolytic and oxidative metabolism, altered expression of contractile proteins, and neuro-mediated damage. Correlation studies of haplotype, muscle gene expression and protein characterization, could help understanding the pathophysiological mechanisms of this myopathic presentation of hypothyroidism.

The Padel phenomenon after the COVID-19: an Italian cross-sectional survey of post-lockdown injuries.

The impact of COVID-19 on sport and physical activity has been a subject of considerable interest and concern. Padel satisfies the desire for social interaction and a return to sport after a period of inactivity. The aim of this study is to show a correlation between return to sport and related injuries in a population of Padel players. The study was carried out in a survey mode, consisting of a questionnaire with four sections and fifty questions on the biographical data of the individual, lifestyle before and after the pandemic, knowledge and playing level of Padel and injuries. The self-administered online questionnaire was developed and validated by a panel of physiotherapists, orthopaedic surgeons, and physiatrists with experience in clinical practice and/or musculoskeletal research. The study was conducted in a survey mode from a smartphone or computer via a link to a multiple-choice document. The link to the questionnaire was distributed via mailing lists, social media, and chat applications.

Remote Cognitive Therapeutic Exercise in Facial Nerve Palsy Rehabilitation: Pandemic Tips and Tricks.

Facial nerve palsy is a clinical diagnosis differentiating between central upper motor neuron lesions and peripheral lower motor neuron lesions. Rehabilitation is an important issue in peripheral facial nerve palsy management. In this article, we present the case of an adult woman affected by right peripheral facial nerve palsy due to acoustic neuroma surgical excision. She immediately started a rehabilitation plan, but it was stopped due to COVID-19 lockdown and did not resume because of the fear of contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Therefore, we planned to treat her palsy with remote neurocognitive rehabilitation. After 10 months of treatment, the patient underwent a follow-up physiatric assessment, confirming right facial palsy improvement. There was a slight nasolabial groove flattening and slight left oral rime deviation while smiling (House-Brackmann classification improved from Grade IV to III). Telerehabilitation represents a valid strategy for neurocognitive rehabilitation, not only in a pandemic scenario, but also in other conditions that lead to social distancing.