Needs and Perceptions of Patients With Dystonia During the COVID-19 Pandemic: A Qualitative Framework Analysis of Survey Responses From Italy

Introduction:The COVID-19 pandemic and its countermeasures have created changes in both life and healthcare. With the prioritization of COVID-19-related management, the risks and experiences of patients suffering from rare conditions, such as dystonia, during the pandemic remain understudied. Materials and MethodsUsing a framework analysis of a nationwide qualitative online survey, we sought to explore the perspectives of patients with dystonia on their clinical assistance and possible unmet needs during the first pandemic wave. An online survey consisting of 37 items (such as demographic characteristics, dystonia-related features, neurological service provision, therapeutic relationship with the neurologist, perceptions related to virus infection, perceptions about healthcare-related needs, work-related questions, requesting information, and seeking support during the pandemic) was carried out using both close and open-ended questions. ResultsResponses from 62 participants were collected, with most of them from the red zones in Italy, where they were confined indoors. Social isolation was a relevant stressor. Motor and non-motor symptoms increased with detrimental consequences for patients' job and daily functionality. Outpatient clinics and rehabilitation sessions were temporarily shut down, and even telephone/mail support was sparse. Despite efforts, patients felt alone in dealing with dystonia. ConclusionThe first wave of the pandemic and its related restrictions had detrimental consequences for people living with dystonia, and their relevant needs remained unmet. These findings may contribute to implementing remedial healthcare provisions in this pandemic or in future pandemics

Priorities for Generative AI Regulation in the UK: CREATe response to the Digital Regulation Cooperation Forum (DRCF)

In July 2023 the UK Digital Regulation Cooperation Forum (DRCF) issued a request for comment on the status of generative AI and priority regulatory concerns. The DRCF is comprised of four of the UK’s major regulators: the Competition and Markets Authority (CMA), the Financial Conduct Authority (FCA), the Information Commissioner’s Office (ICO) and Ofcom. As a research centre with a focus on technology regulation and evidence-based policy making, CREATe is undertaking research that addresses the specific questions raised by the DRCF. As we lay out in our response, the challenges posed by generative AI will be complex, imposing a need for regulators to actively engage with evidence on these dynamic and multifaceted effects. This response addresses key questions raised by the DRCF. Notably, the anticipated direction of travel of innovation of GenAI in the near term, an assessment of what citizens and consumers are currently doing with GenAI, how regulated services are making use of GenAI, what gaps in regulation currently exist, and how future regulation can be balanced with competition, innovation, consumer wellbeing and people’s rights and freedoms. We suggest that addressing these issues requires an interdisciplinary approach. Regulatory responses will need to be cross-domain, adaptable, and scalable to confront these multi-faceted challenges. Research which takes a holistic view incorporating various legal and policy domains can contribute to supporting cross-domain regulatory initiatives

Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?

BACKGROUND: As yet, no population-based prospective studies have been conducted to investigate the incidence and clinical outcome of glioblastoma (GBM) or the diffusion and impact of the current standard therapeutic approach in newly diagnosed patients younger than aged 70 years. METHODS: Data on all new cases of primary brain tumors observed from January 1, 2009, to December 31, 2010, in adults residing within the Emilia-Romagna region were recorded in a prospective registry in the Project of Emilia Romagna on Neuro-Oncology (PERNO). Based on the data from this registry, a prospective evaluation was made of the treatment efficacy and outcome in GBM patients. RESULTS: Two hundred sixty-seven GBM patients (median age, 64 y; range, 29-84 y) were enrolled. The median overall survival (OS) was 10.7 months (95% CI, 9.2-12.4). The 139 patients 64aged 70 years who were given standard temozolomide treatment concomitant with and adjuvant to radiotherapy had a median OS of 16.4 months (95% CI, 14.0-18.5). With multivariate analysis, OS correlated significantly with KPS (HR = 0.458; 95% CI, 0.248-0.847; P = .0127), MGMT methylation status (HR = 0.612; 95% CI, 0.388-0.966; P = .0350), and treatment received in a high versus low-volume center (HR = 0.56; 95% CI, 0.328-0.986; P = .0446). CONCLUSIONS: The median OS following standard temozolomide treatment concurrent with and adjuvant to radiotherapy given to (72.8% of) patients aged 6470 years is consistent with findings reported from randomized phase III trials. The volume and expertise of the treatment center should be further investigated as a prognostic factor

Isolated paroxysmal dysarthria caused by a single demyelinating midbrain lesion.

Paroxysmal dysarthria is an unusual condition characterised by brief episodes of dysarthria with the sudden onset and frequent recurrence. It has been mainly reported in multiple sclerosis and an association with midbrain lesions has been claimed; however, most of the reported patients had multiple brain alterations so it was difficult to associate this symptom with a specific lesion site. We illustrate the cases of two patients with an isolated demyelinating midbrain lesion presenting paroxysmal dysarthria as the only symptom; both participants had oligoclonal bands in the cerebrospinal fluid and an unremarkable follow-up. Both patients had benefit from carbamazepine treatment, similarly to previously reported cases. Our report confirms that a demyelinating midbrain lesion is sufficient to provoke paroxysmal dysarthria. It is noteworthy that an erroneous diagnosis of psychogenic disorders was initially made in both cases, highlighting the importance not to underestimate isolated paroxysmal symptoms in clinical practice

Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy

Study Objectives: To estimate the prevalence of nocturnal frontal lobe epilepsy (NFLE) in the adults of two areas of the Emilia-Romagna region (northeast Italy) and to describe the clinical features from a population-based perspective. Design: Population-based retrospective cohort study including adults with NFLE. Setting: Two areas of the Emilia-Romagna region: the city of Bologna (330,901 adult residents) and five districts of the province of Modena (424,007). Prevalence day: December 31, 2010. Participants: Patients with NFLE collected from multiple databases of neurologic hub centers of the districts involved. Diagnostic criteria: clinical history of sleep related bizarre motor attacks and videopolysomnographic recording confirming the typical features of NFLE. Inclusion criteria for prevalence calculation: residence in one of the two geographic areas on the prevalence day and an "active" or "in remission with treatment" form of NFLE. Measurements and Results: Six subjects from Bologna and eight from Modena were included. Crude prevalence (per 100,000 residents) was 1.8 (95% confidence interval 0.7-4.0) in Bologna and 1.9 (0.8-3.7) in Modena. Similarly, the main clinical features were consistent: onset during adolescence (median age 11-13 y), mainly hyperkinetic seizures, nonlesional form in more than two-thirds of cases, an active form of epilepsy in more than two-thirds of cases. A family history of epilepsy was reported only for two patients. Conclusions: This epidemiologic study establishes that nocturnal frontal lobe epilepsy is a rare epileptic condition, fulfilling the definition for rare disease. Because of methodological limitations of our case ascertainment, the estimates we disclose must be considered the minimum prevalence

Prevalence of sleep-related hypermotor epilepsy-formerly named nocturnal frontal lobe epilepsy-in the adult population of the emilia-romagna region, Italy

we report the incidence of sleep related hyper motor epilepsy in two Italian province

Hematopoietic Stem Cell Transplantation in People With Active Secondary Progressive Multiple Sclerosis

Background and objectives: Uncontrolled evidence suggests that autologous hematopoietic stem cell transplantation (AHSCT) can be effective in people with active secondary progressive multiple sclerosis (SPMS). In this study we compared the effect of AHSCT with that of other anti-inflammatory disease modifying therapies (DMT) on long-term disability worsening in active SPMS. Methods: We collected data from the Italian-Bone-Marrow-Transplantation-Study-Group and the Italian-Multiple-Sclerosis-Register. Patients were considered eligible if treatment had been started after the diagnosis of SPMS. Disability worsening was assessed by the cumulative proportion of patients with a 6-months confirmed-disability-progression (CDP) according to the Expanded-Disability-Status-Scale (EDSS) score. Key secondary endpoints were the EDSS time-trend after treatment start and the prevalence of disability improvement over time. Time to CDP was assessed by means of proportional hazard Cox regression models. A linear mixed model with a time*treatment group interaction was used to assess the longitudinal EDSS time-trends. Prevalence of improvement was estimated using a modified Kaplan-Meier estimator and compared between groups by bootstrapping the area under the curve. Results: 79 AHSCT-treated patients and 1975 patients treated with other DMT (beta-interferons, azathioprine, glatiramer-acetate, mitoxantrone, fingolimod, natalizumab, methotrexate, teriflunomide, cyclophosphamide, dimethyl fumarate, alemtuzumab) were matched to reduce treatment selection bias using propensity-score and overlap weighting approaches. Time to first CDP was significantly longer in transplanted patients (HR=0.50; 95%CI= 0.31-0.81; p=0.005), with 61.7% of transplanted patients free from CPD at 5 years. Accordingly, EDSS time-trend over 10 years was higher in patients treated with other DMT than in AHSCT-treated patients (+0.157 EDSS points per year compared to -0.013 EDSS points per year; interaction-p<0.001). Patients who underwent AHSCT were more likely to experience a sustained disability improvement: 34.7% of patients maintained an improvement (a lower EDSS than baseline) 3 years after transplant versus 4.6% of patients treated by other DMT (p<0.001). Discussion: The use of AHSCT in people with active SPMS is associated with a slowing of disability progression and a higher likelihood of disability improvement compared to standard immunotherapy. Classification of evidence: This study provides Class III evidence that autologous hematopoietic stem cell transplants prolonged the time to confirmed disability progression compared to other disease modifying therapies