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1.
Acta Diabetol ; 2024 Apr 18.
Article in English | MEDLINE | ID: mdl-38634912

ABSTRACT

AIM: In 2022, in Italy, general practitioners (GPs) have been allowed to prescribe SGLT2i in Type 2 Diabetes (T2D) under National Health Service (NHS) reimbursement. In the pivotal clinical trial named DECLARE-TIMI 58, dapagliflozin reduced the risk of hospitalization for heart failure, CV death and kidney disease progression compared to placebo in a population of T2D patients. This study evaluated the health and economic impact of dapagliflozin for T2D patients who had or were at risk for atherosclerotic cardiovascular disease in the Italian GPs setting. METHODS: A budget impact model was developed to assess the health and economic impact of introducing dapagliflozin in GPs setting. The analysis was conducted by adopting the Italian NHS perspective and a 3-year time horizon. The model estimated and compared the health outcomes and direct medical costs associated with a scenario with dapagliflozin and other antidiabetic therapies available for GPs prescription (scenario B) and a scenario where only other antidiabetic therapies are available (scenario A). Rates of occurrence of cardiovascular and renal complications as well as adverse events were captured from DECLARE-TIMI 58 trial and the literature, while cost data were retrieved from the Italian tariff and the literature. One-way sensitivity analyses were conducted to test the impact of model parameters on the budget impact. RESULTS: The model estimated around 442.000 patients eligible for the treatment with dapagliflozin in the GPs setting for each simulated year. The scenario B compared to scenario A was associated with a reduction in the occurrence of cardiovascular and renal complication (-1.83%) over the 3 years simulated. Furthermore, the scenario A allowed for an overall cost saving of 102,692,305€: 14,521,464€ in the first year, 33,007,064€ in the second and 55,163,777€ in the third. The cost of cost of drug acquisition, the probability of cardiovascular events and the percentage of patients potentially eligible to the treatment were the factor with largest impact on the results. CONCLUSIONS: The use of dapagliflozin in GPs setting reduce the number of CVD events, kidney disease progression and healthcare costs in Italy. These data should be considered to optimize the value produced for the T2D patients who had or were at risk for atherosclerotic cardiovascular disease.

2.
Neurol Sci ; 45(2): 573-583, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37684511

ABSTRACT

INTRODUCTION: Safinamide is a recent antiparkinsonian drug that modulates both dopaminergic and glutamatergic systems with positive effects on motor and nonmotor symptoms of Parkinson's disease (PD). Here, we aimed to describe the efficacy and safety of safinamide in the Italian PD patients in real-life conditions. METHODS: We performed a sub-analysis of the Italian cohort of the SYNAPSES study, a multi-country, multi-center, retrospective-prospective cohort observational study, designed to investigate the use of safinamide in routine clinical practice. Patients received for the first time a treatment with safinamide and were followed up for 12 months. The analysis was conducted on the overall population and in subgroups of interest: i) patients > 75 years, ii) patients with relevant comorbidities and iii) patients affected by psychiatric symptoms. RESULTS: Italy enrolled 616/1610 patients in 52 centers, accounting for 38% of the entire SYNAPSES cohort. Of the patients enrolled, 86.0% were evaluable at 12 months, with 23.3% being > 75 years, 42.4% with psychiatric conditions and 67.7% with relevant comorbidities. Safinamide was effective on motor symptoms and fluctuations as measured through the Unified PD rating scale III and IV scores, and on the total score, without safety issues in none of the subgroups considered. CONCLUSION: The SYNAPSES data related to Italian patients confirms the good safety profile of safinamide even in special groups of patients. Motor fluctuations and motor impairment improved at the follow-up suggesting the significant role of safinamide in managing motor symptoms in PD patients.


Subject(s)
Benzylamines , Parkinson Disease , Humans , Parkinson Disease/complications , Parkinson Disease/drug therapy , Retrospective Studies , Prospective Studies , Antiparkinson Agents/therapeutic use , Alanine/adverse effects , Levodopa/therapeutic use
4.
Physiother Res Int ; : e2002, 2023 Apr 06.
Article in English | MEDLINE | ID: mdl-37025068

ABSTRACT

INTRODUCTION: Postural instability and gait impairments are common in people with PD, both of which have a negative effect on their quality of life. Systematic reviews have demonstrated benefits of using exergaming in enhancing these outcomes. However, there is no consensus over whether exergaming therapy is better than conventional physical therapy for enhancing gait, balance, and quality of life. OBJECTIVES: The aim of this overview is to systematically synthesize and evaluate the available evidence found in published systematic reviews and meta-analyses, on the effects of exergaming therapy on balance, gait, and quality of life, compared to conventional physical therapy or no intervention. METHODS: This overview was reported in accordance with the statement of Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA). A comprehensive search was carried out in nine databases. Two reviewers independently extracted data using a standardized forms and the search strategy included terms related to intervention, population, and study type. The methodological quality of the included systematic reviews/meta-analysis (SRs/Mas) was evaluated using the "A Measurement Tool to Assess Systematic Reviews 2" (AMSTAR-2). The "Grading of Recommendations Assessment, Development and Evaluation" (GRADE) was used to assess the quality of the evidence. The risk of bias assessment was performed using the "Risk Of Bias In Systematic Reviews" (ROBIS). PROSPERO registration number: CRD42021238131. RESULTS: 112 SRs/MAs were found and nine of them were selected. Six reviews were rated as very low methodological quality and three reviews as low methodological quality. Five reviews were classified with low risk of bias and four reviews with high risk of bias. Most of the SR/MAs demonstrated significant effects on balance favoring exergaming therapy over conventional therapy, however those studies had been rated as very low quality of evidence. Inconclusive results were found for the quality of life and gait outcomes. CONCLUSION: Exergaming therapy shows promise for the rehabilitation of PD. However, this overview was unable to conclude with certainty that exergaming therapy is superior to conventional physical therapy in improving gait, balance, or quality of life in people with PD. The effectiveness of exergaming therapy in the treatment of people with PD still need to be verified by high-quality studies.

5.
Neurobiol Aging ; 125: 123-124, 2023 05.
Article in English | MEDLINE | ID: mdl-36828691

ABSTRACT

Recently, a novel pathogenic variant in Annexin A1 protein (c.4G > A, p.Ala2Thr) has been identified in an Iranian consanguineous family with autosomal recessive parkinsonism. The deficiencies of ANXA1 could lead to extracellular SNCA accumulation, defects in intracellular signaling pathways and synaptic plasticity causing parkinsonism. The aim of this study was to identify rare ANXA1 variants in 95 early-onset PD patients from South Italy. Sequencing analysis of ANXA1 gene revealed only 2 synonymous variants in PD patients (rs1050305, rs149033255). Therefore, we conclude that the recently published ANXA1 mutation is not a common cause of EOPD in Southern Italy.


Subject(s)
Parkinsonian Disorders , Humans , Age of Onset , Iran , Italy , Mutation/genetics , Parkinsonian Disorders/genetics
6.
Fisioter. Mov. (Online) ; 36: e36120, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1448245

ABSTRACT

Abstract Introduction Previous studies have demonstrated beneficial effects in people with Parkinson´s disease trained with exergames. However, to the best of our knowledge, none of them evaluated whether these effects are sustained by neurofunctional changes. Objective To evaluate neurofunctional effects of a training, by means of functional magnetic resonance imaging, in people with Parkinson´s disease. Methods This study was a blind, randomized, and controlled pilot clinical trial with crossover design. The participants were submitted to an evaluation including cognitive performance and functional magnetic resonance imaging before and after the WiiTM or control trainings. Trainings were applied for 10 days, in two consecutive weeks. Participants starting with WiiTM training were then moved to the control training and vice versa. A wash-out period of 45 days between the trainings was respected. Results Memory, executive and visuo-spatial functions, and attention were significantly improved compared to baseline (p < 0.05). No differences were observed in cognition compared to the control training. Though not significant, results of functional magnetic resonance imaging analyses suggested that WiiTM training could promote improvements on the brain functional connectivity especially in areas involved in motor execution, planning, visual, memory and somatosensory functions. Conclusion In people with Parkinson´s disease, an intensive WiiTM training improved cognitive performance that underlined neurofunctional changes in areas involved in cognitive processing.


Resumo Introdução Estudos anteriores demonstraram efeitos bené-ficos em pessoas com doença de Parkinson treinadas com exergames. No entanto, até onde sabe-se, nenhum deles avaliou se esses efeitos são sustentados por alterações neurofuncionais. Objetivo Avaliar os efeitos neurofuncionais de um treinamento, por meio da ressonância magnética funcional, em pessoas com doença de Parkinson. Métodos Trata-se de um ensaio clínico piloto cego, randomizado e controlado com delineamento crossover. Os participantes foram submetidos a uma avaliação incluindo desempenho cognitivo e ressonância magnética funcional antes e após treinamentos com Wii® ou controle. Os treinamentos foram aplicados durante 10 dias, em duas semanas consecutivas. Os participantes que começaram o treinamento com Wii® foram depois movidos para o treinamento de controle e vice-versa. Respeitou-se um período de wash-out de 45 dias entre os treinamentos. Resultados Memória, funções executivas e visuoespaciais e atenção melhoraram significativamente em comparação com a linha de base (p < 0,05). Não foram observadas diferenças na cognição em comparação com o treinamento de controle. Embora não significativos, os resultados das análises de ressonância magnética funcional sugeriram que o treinamento com Wii® poderia promover melhorias na conectividade funcional do cérebro, especialmente em áreas envolvidas na execução motora, planejamento, funções visuais, de memória e somatossensoriais. Conclusão Em pessoas com doença de Parkinson, um treinamento intensivo com Wii® melhorou o desempenho cognitivo, que destacou mudanças neurofuncionais em áreas envolvidas no processamento cognitivo.

7.
Article in English | MEDLINE | ID: mdl-36293598

ABSTRACT

Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor impairments and it is correlated with loss of bone mineral density. This study aimed to analyze the effects of resistance training on bone metabolism, systemic homeostasis, body composition, and physical performance in people with PD. Thirteen subjects (age 64.83 ± 5.70) with PD diagnosis were recruited. Participants performed neuromuscular tests, body composition assessment, and blood sample analysis at baseline, and after an 11 weeks-training period. Each training session lasted 90 min, three times a week. The participants had significant improvements in the timed up and go (p < 0.01), sit to stand (p < 0.01), dominant peg-board (p < 0.05), dominant foot-reaction time (p < 0.01), and functional reach tests (p < 0.05). They showed better pressure foot distributions in the left forefoot (p < 0.05) and hindfoot (p < 0.05) and increased cervical right lateral bending angle (p < 0.05). The protocol affects bone metabolism markers osteocalcin (p < 0.05), calcium (p < 0.01), PTH (p < 0.01), the C-terminal telopeptide (CTX) (p < 0.01), and vitamin D (p < 0.05). Eleven weeks of resistance training improved manual dexterity, static and dynamic balance, reaction time, cervical ROM, and reduced bone loss in people with PD.


Subject(s)
Parkinson Disease , Resistance Training , Humans , Middle Aged , Aged , Resistance Training/methods , Pilot Projects , Osteocalcin , Calcium , Physical Functional Performance , Body Composition , Vitamin D , Homeostasis
8.
Nutrients ; 14(6)2022 Mar 14.
Article in English | MEDLINE | ID: mdl-35334877

ABSTRACT

Vitamin D is a fat-soluble secosteroid, traditionally considered a key regulator of bone metabolism, calcium and phosphorous homeostasis. Its action is made possible through the binding to the vitamin D receptor (VDR), after which it directly and indirectly modulates the expression of thousands of genes. Vitamin D is important for brain development, mature brain activity and associated with many neurological diseases, including Parkinson's disease (PD). High frequency of vitamin D deficiency in patients with Parkinson's disease compared to control population was noted nearly twenty years ago. This finding is of interest given vitamin D's neuroprotective effect, exerted by the action of neurotrophic factors, regulation of nerve growth or through protection against cytotoxicity. Vitamin D deficiency seems to be related to disease severity and disease progression, evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H&Y) scale, but not with age of PD onset and duration of disease. Additionally, fall risk has been associated with lower vitamin D levels in PD. However, while the association between vitamin D and motor-symptoms seems to be possible, results of studies investigating the association with non-motor symptoms are conflicting. In addition, very little evidence exists regarding the possibility to use vitamin D supplementation to reduce clinical manifestations and disability in patients with PD. However, considering the positive balance between potential benefits against its limited risks, vitamin D supplementation for PD patients will probably be considered in the near future, if further confirmed in clinical studies.


Subject(s)
Parkinson Disease , Vitamin D Deficiency , Calcium, Dietary , Humans , Parkinson Disease/complications , Vitamin D , Vitamin D Deficiency/complications , Vitamin D Deficiency/drug therapy , Vitamins
9.
Neurol Int ; 13(4): 695-700, 2021 Dec 06.
Article in English | MEDLINE | ID: mdl-34940752

ABSTRACT

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with several neurological disorders including headache, facial palsy, encephalitis, stroke, demyelinating disorders. The present report will discuss cases of multiple sclerosis (MS) onset and relapse both beginning early after SARS-CoV-2 infection. In both cases, magnetic resonance imaging (MRI) showed widespread bilateral subcortical and periventricular active lesions. Serum IgG against SARS-CoV-2 Spike antigens confirmed seroconversion with titers that are considered not definitely protective against possible reinfection. We hypothesize that SARS-CoV-2 infection, as previously reported for other viruses, could drive an active inflammatory response that can contribute either to the onset of MS or its relapse. The presented data further support the importance of vaccination in individuals with MS.

10.
Brain Sci ; 11(12)2021 Dec 03.
Article in English | MEDLINE | ID: mdl-34942907

ABSTRACT

INTRODUCTION: Postural abnormalities are common in patients with Parkinson's disease (PD) and lead to gait abnormalities. Relationships between changes in the trunk posture of PD patients and gait profile score (GPS) and gait spatiotemporal parameters are poorly investigated. The aim of the current study was to investigate the relationships between trunk posture, GPS, and gait spatiotemporal parameters, in patients with PD. MATERIALS AND METHODS: Twenty-three people with PD and nineteen age-matched healthy people participated in this study. A 3D gait kinematical analysis was applied to all participants using the Plug-In Gait Full BodyTM tool. Trunk and limb kinematics patterns and gait spatio-temporal parameters of patients with PD and the control group were compared. Additionally, correlations between trunk kinematics patterns, gait spatio-temporal parameters, and GPS of the PD group were tested. RESULTS: Cadence, opposite foot off, step time, single support, double support, foot off, gait speed, trunk kinematics, and GPS showed significant differences between the two groups (p ≤ 0.05). Posture of the trunk during gait was not related to the spatio-temporal parameters and gait profile score in the PD group. The trunk flexor pattern influenced GPS domains, mainly of the ankle and the knee. DISCUSSION AND CONCLUSIONS: Flexed posture of the trunk in patients with PD seems to influence both ankle and knee movement patterns during the gait. The GPS analysis provided direct and simplified kinematic information for the PD group. These results may have implications for understanding the importance of considering the positioning of the trunk during gait.

11.
Sci Rep ; 11(1): 2524, 2021 01 28.
Article in English | MEDLINE | ID: mdl-33510338

ABSTRACT

The prevalence and impact of imaging findings detected during screening procedures in patients undergoing transcranial MR-guided Focused Ultrasound (tcMRgFUS) thalamotomy for functional neurological disorders has not been assessed yet. This study included 90 patients who fully completed clinical and neuroradiological screenings for tcMRgFUS in a single-center. The presence and location of preoperative imaging findings that could impact the treatment were recorded and classified in three different groups according to their relevance for the eligibility and treatment planning. Furthermore, tcMRgFUS treatments were reviewed to evaluate the number of transducer elements turned off after marking as no pass regions the depicted imaging finding. A total of 146 preoperative imaging findings in 79 (87.8%) patients were detected in the screening population, with a significant correlation with patients' age (rho = 483, p < 0.001). With regard of the group classification, 119 (81.5%), 26 (17.8%) were classified as group 1 or 2, respectively. One patient had group 3 finding and was considered ineligible. No complications related to the preoperative imaging findings occurred in treated patients. Preoperative neuroradiological findings are frequent in candidates to tcMRgFUS and their identification may require the placement of additional no-pass regions to prevent harmful non-targeted heating.


Subject(s)
Magnetic Resonance Imaging , Neuroimaging , Preoperative Care , Surgery, Computer-Assisted , Thalamus/diagnostic imaging , Thalamus/surgery , Ultrasonography, Interventional , Adult , Aged , Aged, 80 and over , Clinical Decision-Making , Disease Management , Female , Humans , Magnetic Resonance Imaging/methods , Male , Mass Screening/methods , Middle Aged , Neuroimaging/methods , Preoperative Care/methods , Surgery, Computer-Assisted/methods , Thalamus/pathology , Tomography, X-Ray Computed , Young Adult
12.
Brain Sci ; 11(1)2021 Jan 04.
Article in English | MEDLINE | ID: mdl-33406708

ABSTRACT

BACKGROUND: High-quality intraoperative imaging is needed for optimal monitoring of patients undergoing transcranial MR-guided Focused Ultrasound (tcMRgFUS) thalamotomy. In this paper, we compare the intraoperative imaging obtained with dedicated FUS-Head coil and standard body radiofrequency coil in tcMRgFUS thalamotomy using 1.5-T MR scanner. METHODS: This prospective study included adult patients undergoing tcMRgFUS for treatment of essential tremor. Intraoperative T2-weighted FRFSE sequences were acquired after the last high-energy sonication using a dedicated two-channel FUS-Head (2ch-FUS) coil and body radiofrequency (body-RF) coil. Postoperative follow-ups were performed at 48 h using an eight-channel phased-array (8ch-HEAD) coil. Two readers independently assessed the signal-to-noise ratio (SNR) and evaluated the presence of concentric lesional zones (zone I, II and III). Intraindividual differences in SNR and lesional findings were compared using the Wilcoxon signed rank sum test and McNemar test. RESULTS: Eight patients underwent tcMRgFUS thalamotomy. Intraoperative T2-weighted FRFSE images acquired using the 2ch-FUS coil demonstrated significantly higher SNR (R1 median SNR: 10.54; R2: 9.52) compared to the body-RF coil (R1: 2.96, p < 0.001; R2: 2.99, p < 0.001). The SNR was lower compared to the 48-h follow-up (p < 0.001 for both readers). Intraoperative zone I and zone II were more commonly visualized using the 2ch-FUS coil (R1, p = 0.031 and p = 0.008, R2, p = 0.016, p = 0.008), without significant differences with 48-h follow-up (p ≥ 0.063). The inter-reader agreement was almost perfect for both SNR (ICC: 0.85) and lesional findings (k: 0.82-0.91). CONCLUSIONS: In the study population, the dedicated 2ch-FUS coil significantly improved the SNR and visualization of lesional zones on intraoperative imaging during tcMRgFUS performed with a 1.5-T MR scanner.

13.
Neurol Sci ; 42(6): 2447-2452, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33078249

ABSTRACT

BACKGROUND: The incidence of stroke in high-income countries has been on the decline; however, few epidemiological surveys have been conducted in recent years to specifically estimate the incidence along with outcome of stroke, in Italy. This study aimed to examine the incidence and case fatality rates of stroke in an elderly Italian population. METHODS: A cohort of 2200 people > 65 years was randomly stratified from the total elderly population of Bagheria, Italy. A 9-year prospective population-based study was performed (19,800 person/years). RESULTS: We identified 112 first-ever strokes, 53 females and 59 males: 82 (73.1%) ischemic, 13(11.6%) intracerebral haemorrhages, 6 (5.35%) subarachnoid haemorrhages, while 11(9.8%) were classified as undetermined strokes. The crude overall annual incidence was 5.65 per 1000 (95%CI: 4.61 to 6.70) for first-ever stroke. The overall crude incidence rates were 4.74 per 1000 (5.08 for males and 4.46 for females) for ischemic stroke, 0.65 (0.99 for males and 0.37 for females) for intracerebral haemorrhage, and 0.03 for subarachnoid haemorrhage. The incidence rate for first-ever stroke was 5.4 per 1000 (95% CI: 5.36 to 5.45) after adjustment for the 2015 World population and 5.56 (95% CI: 5.52 to 5.61), compared to the 2015 European population. Overall case fatality rates for first-ever stroke was 8.19% at 28 days and 24.1% at 1 year. CONCLUSION: Our study shows that in the elderly population investigated, stroke incidence and case fatality rates resulted being lower, compared to those from Italian and most European populations. Similar to previous studies, these rates increased linearly with age and were higher in males.


Subject(s)
Stroke , Aged , Cerebral Hemorrhage/epidemiology , Female , Humans , Incidence , Italy/epidemiology , Male , Prospective Studies , Registries , Stroke/epidemiology
14.
Neurol Sci ; 42(1): 305-308, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32995992

ABSTRACT

Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.


Subject(s)
Alzheimer Disease , Lewy Body Disease , Parkinson Disease , Humans , Italy , Lewy Body Disease/genetics , Mutation/genetics , Parkinson Disease/genetics
15.
Neurol Sci ; 42(3): 1139-1143, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33094429

ABSTRACT

Transcranial magnetic resonance-guided focused ultrasound is a recently introduced incisionless treating option for essential tremor and tremor-dominant idiopathic Parkinson disease. There is preliminary evidence that it may result in a promising effective treatment option for other movement disorders too. Here, we report on two patients with multiple sclerosis with medication refractory debilitating essential tremor comorbidity who successfully underwent unilateral Vim tcMRgFUS thalamotomy for tremor control. Patients' clinical condition and expanded disability status scale scores showed no changes during the 1-year follow-up period with no evidence of multiple sclerosis activity or progression.


Subject(s)
Essential Tremor , Multiple Sclerosis , Essential Tremor/diagnostic imaging , Essential Tremor/surgery , Humans , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Multiple Sclerosis/complications , Multiple Sclerosis/diagnostic imaging , Thalamus/diagnostic imaging , Thalamus/surgery , Treatment Outcome
16.
Hum Vaccin Immunother ; 17(5): 1387-1395, 2021 05 04.
Article in English | MEDLINE | ID: mdl-33121342

ABSTRACT

OBJECTIVE: we estimated the epidemiological and budget impact of lowering the recommended age for influenza immunization with quadrivalent vaccine actively offered and administered free of charge to persons over 50 years old by public immunization services. METHODS: a multi-cohort, deterministic, static Markov model was populated by real-world data on the clinical and economic impact of Influenza-Like Illness and Lower Respiratory Tract Infection over 1 year. Four scenarios featuring different vaccine coverage rates were compared with the base case; coverage rates in subjects with and without risk factors were considered separately. RESULTS: compared with the base case, adopting scenarios 1-4 would reduce the annual number of influenza cases by 6.5%, 10.8%, 13.8% and 3.4%, Emergency Department accesses by 10.7%, 9.1%, 15.4% and 4.6%, complications by 8.9%, 9.9%, 14.7% and 4.1%, and the hospitalization of complicated cases by 11%, 9.1%, 15.4% and 4.5%, respectively. The four scenarios would require an additional investment (vaccine purchase and administration) of €316,996, €529,174, €677,539, and €168,633, respectively, in comparison with the base case. Scenario 1 proved to be cost-saving in the 60-64-year age-group. The incremental costs of implementing the other hypothetical scenarios ranged from 2.7% (scenario 4) to 13.2% (scenario 3). CONCLUSIONS: lowering the recommended age for influenza vaccination to 60 years would allow a high proportion of subjects at risk for severe influenza to be reached and would save money.


Subject(s)
Influenza Vaccines , Influenza, Human , Cost-Benefit Analysis , Humans , Immunization , Italy , Middle Aged , Vaccination
17.
Neurobiol Aging ; 93: 143.e5-143.e7, 2020 09.
Article in English | MEDLINE | ID: mdl-32402491

ABSTRACT

DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.


Subject(s)
DNA Mutational Analysis , Dynactin Complex/genetics , Genetic Association Studies , Genetic Testing , Lewy Body Disease/genetics , Multiple System Atrophy/genetics , Negative Results , Parkinson Disease , Supranuclear Palsy, Progressive/genetics , Aged , Female , Humans , Italy , Male , Middle Aged , Parkinson Disease/genetics
18.
Eur Radiol ; 30(9): 5059-5070, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32346791

ABSTRACT

OBJECTIVES: To assess the intraoperative neuroimaging findings in patients treated with transcranial MR-guided focused ultrasound (tcMRgFUS) thalamotomy using 1.5T equipment in comparison with the 48-h follow-up. METHODS: Fifty prospectively enrolled patients undergoing unilateral tcMRgFUS thalamotomy for either medication-refractory essential tremor (n = 39) or Parkinson tremor (n = 11) were included. Two radiologists evaluated the presence and size of concentric lesional zones (zone I, zone II, and zone III) on 2D T2-weighted sequences acquired intraoperatively after the last high-energy sonication and at 48 h. Sonication parameters including number of sonications, delivered energy, and treatment temperatures were also recorded. Differences in lesion pattern and size were assessed using the McNemar test and paired t test, respectively. RESULTS: Zones I, II, and III were visualized in 34 (68%), 50 (100%), and 44 (88%) patients, and 31 (62%), 50 (100%), and 45 (90%) patients after the last high-energy sonication for R1 and R2, respectively. All three concentric zones were visualized intraoperatively in 56-58% of cases. Zone I was significantly more commonly visualized at 48 h (p < 0.001). Diameter of zones I and II and the thickness of zone III significantly increased at 48 h (p < 0.001). Diameters of zones I and II measured intraoperatively demonstrated significant correlation with thermal map temperatures (p ≤ 0.001). Maximum temperature significantly correlated with zone III thickness at 48 h. A threshold of 60.5° had a sensitivity of 56.5-66.7% and a specificity of 70.5-75.5% for thickness > 6 mm at 48 h. CONCLUSIONS: Intraoperative imaging may accurately detect typical lesional findings, before completing the treatment. These imaging characteristics significantly correlate with sonication parameters and 48-h follow-up. KEY POINTS: • Intraoperative T2-weighted images allow the visualization of the zone I (coagulation necrosis) in most of the treated patients, while zone II (cytotoxic edema) is always detected. • Lesion size depicted with intraoperative transcranial MRgFUS imaging correlates well with procedure parameters. • Intraoperative transcranial MRgFUS imaging may have a significant added value for treating physicians.


Subject(s)
Essential Tremor/diagnostic imaging , High-Intensity Focused Ultrasound Ablation/methods , Magnetic Resonance Imaging/methods , Parkinson Disease/diagnostic imaging , Sonication , Thalamus/diagnostic imaging , Adult , Aged , Aged, 80 and over , Essential Tremor/surgery , Female , Humans , Intraoperative Care , Male , Middle Aged , Parkinson Disease/surgery , Surgery, Computer-Assisted/methods , Thalamus/surgery , Ultrasonography
19.
Physiother Res Int ; 25(1): e1807, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31468656

ABSTRACT

OBJECTIVE: Purpose of this study is to evaluate the effects of training with six commercial Xbox KinectTM games on cognitive and motor aspects in Parkinson's disease (PD) patients and to compare the effects with a group of paired healthy subjects. METHODS: This study was a quasi-experimental, controlled trial. Eight individuals with PD (mean age 68.9 ± 7.9) and eight older adults without PD, matched by age (mean age 67.6 ± 7.3) were enrolled in the study. Ten sessions of six Xbox 360 KinectTM commercial games were performed for 5 weeks. Subjects were evaluated before and 7 and 30 days after intervention. They were assessed using Montreal Cognitive Assessment, Frontal Assessment Battery (FAB), Timed Up and Go test, Ten Meters Walking test, and Balance Berg Scale. The Freezing of Gait Questionnaire, the Movement Disorder Society Unified Parkinson Disease Rating Scale, and the Parkinson's disease Questionnaire were also applied to PD group. RESULTS: Significant improvement was found for cognitive aspects measured by Montreal Cognitive Assessment and FAB in both groups but without retention on FAB in PD group. No significant improvements were found for motor aspects in none group. CONCLUSION: Motor-cognitive training using Xbox KinectTM games is a feasible resource to improve executive functions in PD patients and in older healthy people.


Subject(s)
Gait Disorders, Neurologic/rehabilitation , Parkinson Disease/rehabilitation , Postural Balance , Video Games , Aged , Cognition , Female , Gait , Gait Disorders, Neurologic/etiology , Humans , Male , Middle Aged , Parkinson Disease/complications , Time and Motion Studies
20.
J Neural Transm (Vienna) ; 126(12): 1701-1706, 2019 12.
Article in English | MEDLINE | ID: mdl-31576424

ABSTRACT

We evaluated the combined use of transcranial random noise stimulation (tRNS) with the Graded Repetitive Arm Supplementary Program (GRASP) in sub-acute ischemic stroke patients suffering from arm impairment. Eighteen ischemic stroke patients with upper limb disability were randomly assigned to either the GRASP + tRNS or GRASP + Sham stimulation group. Fugl-Meyer Assessment-Upper extremity (FMA-UE) was performed to evaluate upper limb impairment before treatment (T0), after the last stimulation (T1) and after 30 days (T2). At T1 and T2, beneficial effects in the tRNS group correlated with better FMA-UE score than sham stimulation group (p < 0.001) and these results did not correlate to stroke severity, because no associations were observed between National Institute of Health Stroke Scale and FMA UE T1 and T2. This study displayed a good feasibility and was the first to evaluate the use of tRNS in association with Grasp in sub-acute stroke survivors having arm impairment to improve arm motor recovery.


Subject(s)
Combined Modality Therapy/methods , Physical Therapy Modalities , Recovery of Function , Stroke Rehabilitation/methods , Transcranial Direct Current Stimulation/methods , Aged , Brain/physiology , Double-Blind Method , Female , Humans , Male , Pilot Projects , Treatment Outcome , Upper Extremity
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