145 results match your criteria: "Neurological Institute "C. Mondino Foundation"[Affiliation]"

Article Synopsis
  • The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
  • The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
  • Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
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Background: We aimed to assess the effects of preventive migraine treatment with atogepant vs. placebo on patient-reported quality of life and functioning.

Methods: Analyses of patient-reported outcomes from three 12-week, randomized, placebo-controlled trials evaluating preventive migraine treatment with atogepant 60 mg once-daily: ADVANCE (low-frequency episodic migraine [LFEM], 4-8 monthly migraine days [MMDs] and high-frequency episodic migraine [HFEM], 8-14 MMDs), PROGRESS (chronic migraine, CM) and ELEVATE (episodic migraine in those previously failed by two to four classes of oral preventive treatments).

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The Global Burden of Disease (GBD) study is pivotal in shaping health policies by providing comprehensive data on mortality and disability. An updated GBD2021 analysis, published in on 14 March 2024, expands the scope of neurological disorders to include 37 conditions, revealing their significant impact on global health. Neurological disorders affect 3.

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We provide here the first bottom-up review of the lived experience of mental disorders in adolescents co-designed, co-conducted and co-written by experts by experience and academics. We screened first-person accounts within and outside the medical field, and discussed them in collaborative workshops involving numerous experts by experience - representing different genders, ethnic and cultural backgrounds, and continents - and their family members and carers. Subsequently, the material was enriched by phenomenologically informed perspectives and shared with all collaborators.

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Background: The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services. While several studies have investigated mental health, distress and psychosocial resources in the general population during the pandemic, little is known about the experience of persons with INMD.

Methods: This study was aimed to fill this gap by jointly investigating both psychopathological symptoms and psychosocial resources - specifically, resilience and perceived social support - among persons with INMD during the pandemic, taking into account demographic and clinical factors.

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Theory of Mind (ToM) is the ability to infer one's own and others' mental states. Growing research indicates that ToM is impaired in Chronic Migraine with Medication Overuse (CM + MO). However, the research in this field has been conducted using static scenario-based tasks, often failing to test mentalization in everyday situations and measuring only performance accuracy.

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Background: Atogepant, an oral calcitonin gene-related peptide receptor antagonist, has been approved for the preventive treatment of migraine, but its efficacy and safety in people who have been failed by conventional oral preventive migraine treatments has not yet been evaluated in a dedicated clinical trial. The ELEVATE trial evaluated the safety, tolerability, and efficacy of atogepant for the preventive treatment of episodic migraine in participants for whom two to four classes of conventional oral preventive treatments have failed.

Methods: ELEVATE was a randomised, double-blind, placebo-controlled, parallel-group, phase 3b trial done at 73 sites in Canada, the Czech Republic, Denmark, France, Germany, Hungary, Italy, the Netherlands, Poland, Russia, Spain, the UK, and the USA.

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Background: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes.

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Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA).

Methods: People aged between 18 and 60 were recruited as being DRA carriers.

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Chronic migraine is a disabling neurovascular disorder that ranks amongst the top causes of years lived with disability worldwide. The duration and the frequency of migraine affect cognitive and affective domains, inducing worsening of memory, executive functions, orientation and causing anxiety. Population-based studies report a worrying level of resistance to treatments.

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The greatest risk factor for neurodegeneration is the aging of the multiple cell types of human CNS, among which microglia are important because they are the "sentinels" of internal and external perturbations and have long lifespans. We aim to emphasize microglial signatures in physiologic brain aging and Alzheimer's disease (AD). A systematic literature search of all published articles about microglial senescence in human healthy aging and AD was performed, searching for PubMed and Scopus online databases.

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Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications.

Mol Neurobiol

July 2024

Council for Nutritional and Environmental Medicine, Toften 24, 8610, Mo i Rana, Norway.

Autism spectrum disorder (ASD) is a mosaic of neurodevelopmental conditions composed of early-onset social interaction and communication deficits, along with repetitive and/or restricted patterns of activities, behavior, and interests. ASD affects around 1% of children worldwide, with a male predominance. Energy, porphyrin, and neurotransmitter homeostasis are the key metabolic pathways affected by heavy metal exposure, potentially implicated in the pathogenesis of ASD.

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Objective: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies.

Methods: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA).

Results: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.

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Background: Matters of workplace harassment are an important issue. This issue needs to be recognized and studied to prevent occurrences. These important sensitive areas of effective workplace management are increasingly gaining more interest.

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I n the context of an adequate health care organization, the figure of the neurologist as an emergency operator (in the emergency room-ER-and/or in a dedicated outpatient clinic) is crucial for an effective functional connection with the territory (and therefore with general practitioners), a reduction in inappropriate ER accesses, specific diagnostic and therapeutic approaches to neurological emergencies in the ER and a reduction in nonspecific or even unnecessary instrumental investigations. In this position paper of the Italian Association of Emergency Neurology (ANEU: Associazione Neurologia dell'Emergenza Urgenza), these issues are addressed, and two important organizational solutions are proposed: 1) The Neuro Fast Track, as an outpatient organization approach strongly linked to general practitioners and non-neurological specialists and dedicated to cases with deferrable urgency (to be assessed within 72 h) 2) The identification of an emergency neurologist, who is engaged in ER assessments as a consultant and involved in the management of the semi-intensive care unit of the emergency neurology and the stroke unit according to an appropriate rotation, as well as in consultations for patients with neurological emergencies in inpatient wards The possibility of computerizing the screening of patients with deferrable urgency in the Neuro Fast Track is described. A dedicated app represents an important tool that can facilitate the identification of patients for whom deferred assessment is appropriate, the scheduling of neurological examinations and reductions in the booking time through a more rapid approach to specialist assessment and subsequent investigations.

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Safety of Onabotulinumtoxin A in Chronic Migraine: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.

Toxins (Basel)

May 2023

Pharmacotechnology Documentation and Transfer Unit, Preclinical and Translational Pharmacology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy.

Some 14% of global prevalence, based on high-income country populations, suffers from migraine. Chronic migraine is very disabling, being characterized by at least 15 headache days per month of which at least 8 days present the features of migraine. Onabotulinumtoxin A, targeting the machinery for exocytosis of neurotransmitters and neuropeptides, has been approved for use in chronic migraine since 2010.

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People with Diabetes Have Poorer Self-Rated Health (SRH) and Diabetes Moderates the Association between Age and SRH.

Diseases

May 2023

IRCCS "C. Mondino" Foundation, National Neurological Institute, Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.

Diabetes is a severe chronic condition that is related to decreased physical functioning. Recently, there has been growing interest in understanding how a brief report on health such as self-rated health (SRH) could be used to track changes in health status and service needs in people with diabetes. The current research aims to investigate how SRH is affected by diabetes and how diabetes could moderate the association between age and SRH.

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Global synergistic actions to improve brain health for human development.

Nat Rev Neurol

June 2023

World Federation of Neurosurgical Societies, Prague, Czech Republic.

Article Synopsis
  • Neurological disorders are a growing global issue, particularly in low-resource settings, highlighting the need for improved brain health services.
  • The World Health Organization's new plan emphasizes the importance of addressing these disorders for population well-being and economic growth, revealing a chance to enhance neurological care.
  • The proposed "neurological quadrangle" focuses on four main areas: surveillance, prevention, acute care, and rehabilitation, advocating for innovative strategies that include holistic approaches and equitable access to services for all people.
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Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients.

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Personality traits and dimensions of mental health.

Sci Rep

May 2023

Department of Brain and Behavioral Sciences, National Neurological Institute, IRCCS "C. Mondino" Foundation, Pavia, Italy.

Individuals are different in a relatively constant pattern of thoughts, feeling, and behaviors, which are called personality traits. Mental health is a condition of well-being in which people may reach their full potential and deal effectively with stress, work efficiently, and contribute to their communities. Indeed, the link between personality and mental health as indicated by the 12-item version of the general health questionnaires (GHQ-12) has been well-established according to evidence found by decades of research.

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Introduction: Migraine is a highly prevalent and disabling neurological disease. Excessive use of acute medications can lead to medication-overuse headache (MOH), occurring when a patient experiences an increasing number of headache and migraine days, despite taking greater amounts of acute medication. To treat MOH, a preventive migraine treatment and/or withdrawal of the overused medication(s) are advised.

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Understanding Cognitive Deficits in People with Coronary Heart Disease (CHD).

J Pers Med

February 2023

IRCCS "C. Mondino" Foundation, National Neurological Institute, Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.

Coronary heart disease (CHD) is one of the main cardiovascular diseases that can cause disability and death across the globe. Although previous research explored the links between CHD and cognitive deficits, only a subset of cognitive abilities was analyzed and a small clinical sample size was used. Thus, the aim of the current study is to assess how CHD can affect the cognitive domains of episodic memory, semantic verbal fluency, fluid reasoning, and numerical ability in a large cohort of participants from the United Kingdom.

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The prediction of chronological age from methylation-based biomarkers represents one of the most promising applications in the field of forensic sciences. Age-prediction models developed so far are not easily applicable for forensic caseworkers. Among the several attempts to pursue this objective, the formulation of single-locus models might represent a good strategy.

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Medication overuse headache.

Nat Rev Dis Primers

February 2023

Department of Neurology and Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.

Medication overuse headache (MOH) is a secondary headache disorder attributed to overuse of acute headache medications by a person with an underlying headache disorder, usually migraine or tension-type headache. MOH is common among individuals with 15 or more headache days per month. Although MOH is associated with substantial disability and reductions in quality of life, this condition is often under-recognized.

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Incomplete functional recovery following traumatic peripheral nerve injury is common, mainly because not all axons successfully regenerate and reinnervate target muscles. Exercise can improve functional outcomes increasing the terminal sprouting during the muscle reinnervation. However, exercise is not a panacea per se.

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