55 results match your criteria: "Department of Research and Clinical Development[Affiliation]"

"Natural history of skeletal muscle laminopathies: a 2-year prospective study".

Neuromuscul Disord

November 2024

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

Article Synopsis
  • Skeletal muscle laminopathies (SMLs) are rare genetic disorders linked to mutations in the LMNA gene, affecting skeletal muscles.
  • A 2-year study involving 26 patients aimed to understand the progression of SMLs, using various assessments for muscle performance and respiratory function.
  • Results indicated a significant decline in muscle function (NSAA score) and respiratory capacity (FVC and FEV1) over two years, while other measurements like walking tests and joint flexibility remained stable.
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Background: In recent years a broader range of immunomodulatory and immunosuppressive treatment options have emerged for people with progressive forms of multiple sclerosis (PMS). While consensus supports these options as reducing relapses, their relative benefit and safety profiles remain unclear due to a lack of direct comparison trials.

Objectives: To compare through network meta-analysis the efficacy and safety of alemtuzumab, azathioprine, cladribine, cyclophosphamide, daclizumab, dimethylfumarate, diroximel fumarate, fingolimod, fludarabine, glatiramer acetate, immunoglobulins, interferon beta 1-a and beta 1-b, interferon beta-1b (Betaferon), interferon beta-1a (Avonex, Rebif), laquinimod, leflunomide, methotrexate, minocycline, mitoxantrone, mycophenolate mofetil, natalizumab, ocrelizumab, ofatumumab, ozanimod, pegylated interferon beta-1a, ponesimod, rituximab, siponimod, corticosteroids, and teriflunomide for PMS.

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Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Muscle Nerve

October 2024

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.

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Objective: The COVID-19 pandemic affected neuro-oncological patients and their caregivers regarding tumor care and emotional functioning, including Quality of Life (QoL). This study aimed to understand how COVID-19 affected their psychological state and the relations between patients and health personnel in neuro-oncology.

Methods: A cross-sectional study was conducted on neuro-oncological patients and their caregivers.

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Objective: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.

Methods: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome.

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Background: Chronic migraine (CM) is a disabling and hard-to-treat condition, associated with high disability and high cost. Among the preventive treatments, botulinum toxin A (BoNT-a) and monoclonal antibodies against the calcitonin gene-related protein (anti-CGRP mAbs) are the only disease-specific ones. The assessment of the disease burden is complex, and among others, tools such as the allodynia symptoms checklist (ASC-12) and headache impact test (HIT-6) are very useful.

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Despite the noteworthy advancements and the introduction of new technologies in diagnostic tools for cardiovascular disorders, the electrocardiogram (ECG) remains a reliable, easily accessible, and affordable tool to use. In addition to its crucial role in cardiac emergencies, ECG can be considered a very useful ancillary tool for the diagnosis of many non-cardiac diseases as well. In this narrative review, we aimed to explore the potential contributions of ECG for the diagnosis of non-cardiac diseases such as stroke, migraine, pancreatitis, Kounis syndrome, hypothermia, esophageal disorders, pulmonary embolism, pulmonary diseases, electrolyte disturbances, anemia, coronavirus disease 2019, different intoxications and pregnancy.

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Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.

Mov Disord

July 2024

Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

Background: The evidence in the effectiveness of deep brain stimulation in children with medication-refractory non-degenerative monogenic dystonia is heterogeneous and long-term results are sparse.

Objectives: The objective is to describe long-term outcomes in a single-center cohort and compare our results with a meta-analysis cohort form literature.

Methods: We performed a retrospective single-center cohort study including consecutive pediatric patients with non-degenerative genetic or idiopathic dystonia treated with globus pallidus internus deep brain stimulation at our center and a systematic review and individual-patient data meta-analysis with the same inclusion criteria.

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Five-year glioblastoma (GBM) survivors (LTS) are the minority of the isocitrate dehydrogenase (IDH)-wild-type GBM patients, and their molecular fingerprint is still largely unexplored. This multicenter retrospective study analyzed a large LTS-GBM cohort from nine Italian institutions and molecularly characterized a subgroup of patients by mutation, DNA methylation (DNAm) and copy number variation (CNV) profiling, comparing it to standard survival GBM. Mutation scan allowed the identification of pathogenic variants in most cases, showing a similar mutational spectrum in both groups, and highlighted TP53 as the most commonly mutated gene in the LTS group.

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Background: Chronic migraine (CM) is a disabling condition with high prevalence in the general population. Until the recent approval of monoclonal antibodies targeting the calcitonin gene-related peptide (Anti-CGRP mAbs), OnabotulinumtoxinA (BoNT-A) was the only treatment specifically approved for CM prophylaxis. Direct comparisons between the two treatments are not available so far.

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Background: Different therapeutic strategies are available for the treatment of people with relapsing-remitting multiple sclerosis (RRMS), including immunomodulators, immunosuppressants and biological agents. Although each one of these therapies reduces relapse frequency and slows disability accumulation compared to no treatment, their relative benefit remains unclear. This is an update of a Cochrane review published in 2015.

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Efgartigimod in generalized myasthenia gravis: A real-life experience at a national reference center.

Eur J Neurol

April 2024

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.

Background And Purpose: Inhibition of the neonatal Fc receptor (FcRn) for IgG is a promising new therapeutic strategy for antibody-mediated disorders. We report our real-life experience with efgartigimod (EFG) in 19 patients with generalized myasthenia gravis (gMG) along a clinical follow-up of 14 months.

Methods: EFG was administered according to the GENERATIVE protocol (consisting of a Fixed period of two treatment cycles [given 1 month apart] of four infusions at weekly intervals, followed by a Flexible period of re-cycling in case of worsening).

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Article Synopsis
  • Multiple sclerosis (MS) primarily affects young adults, particularly women, leading to significant disability; while immunotherapies reduce disease activity, their safety is uncertain.
  • The study aimed to compare the adverse effects of various immunotherapies for MS and clinically isolated syndrome (CIS) and to rank these treatments based on their risk of side effects using network meta-analyses.
  • Using data from 123 trials with over 57,000 participants, the analysis employed rigorous methods to evaluate evidence quality and established a safety threshold for assessing treatment risks.
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Background And Objectives: To evaluate the effectiveness and long-term pain relief of microvascular decompression (MVD) for "typical" trigeminal neuralgia (TN), including patients affected by multiple sclerosis (MS).

Methods: Between January 2011 and December 2022, 516 consecutive patients presenting with trigeminal neuralgia and a diagnosed neurovascular conflict at MRI underwent microvascular decompression surgery in our neurosurgery department. Ten surgeons with different ages and experiences performed the surgical procedures.

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Due to poor data in literature, we aimed to investigate the respiratory function in a large cohort of naïve Italian adult (≥18 years) SMA patients in a multi-centric cross-sectional study. The following respiratory parameters were considered: forced vital capacity (FVC), forced expiratory volume in one second (FEV1) and need for non-invasive ventilation (NIV). We included 145 treatment-naïve adult patients (SMA2=18, SMA3=125; SMA4=2), 58 females (40 %), with median age at evaluation of 37 years (range 18-72).

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Virtual reality technology has been increasingly used in the field of anatomy education, particularly in response to the COVID-19 pandemic. Virtual reality in anatomy (VRA) allows the creation of immersive, three-dimensional environments or experiences that can interact in a seemingly real or physical way. A comprehensive search of electronic databases was conducted to identify relevant studies.

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Giant inflammatory pseudotumor of the lung: a case report.

Folia Med (Plovdiv)

April 2023

Department of Research and Clinical Development, Botkin Hospital, Moskow, Russia.

The inflammatory myofibroblastic tumor, which was first described in 1939, is a rare neoplasm that accounts for 0.04%-0.7% of all lung neoplasms.

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Background: Spasticity and urinary disturbances can profoundly impact the daily lives of persons with multiple sclerosis (pwMS). Cannabis has been associated with improvement in sphincteric disturbances. To our knowledge, few studies have evaluated the effect of nabiximols oromucosal spray (Sativex®) on urinary disturbances by instrumental methods.

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[This corrects the article DOI: 10.3389/fnagi.2022.

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Objective: Peripheral nerve sheath tumors (PNST) include mainly schwannomas and neurofibromas. Surgical resection represents the mainstay of treatment but due to their pathogenesis, distinguishing between intact functional nerve and the fibers from whence the PNST arose may not always be easy to perform, constituting the most relevant risk factor in determining a worsening in neurological condition. The introduction of intraoperative tools to better visualize these tumors could help achieve a gross-total resection.

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Background: Precise knowledge of the topographic features of the splenic artery and its branches in the hilum region is of practical interest due to the various interventions on the vessels of the spleen.

Materials And Methods: The anatomy of the spleen was studied by means of macroscopic dissection on 330 organ complexes, which were carefully documented and analyzed statistically.

Results: The analysis of the splenic artery trajectory led to identification of four types: straight (43.

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Thalamic gliomas represent a heterogeneous subset of deep-seated lesions for which surgical removal is advocated, although clear prognostic factors linked to advantages in performance status or overall survival are still lacking. We reviewed our Institutional Cancer Registry, identifying patients who underwent surgery for thalamic gliomas between 2006 and 2020. Associations between possible prognostic factors such as tumor volume, grade, the extent of resection and performance status (PS), and overall survival (OS) were evaluated using univariate and multivariate survival analyses.

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Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).

J Neurol Neurosurg Psychiatry

February 2023

Department of Clinical Neurosciences, Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Background: Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. During the COVID-19 pandemic, outpatients' visits have been reduced to preserve safety of frail patients, and telehealth was largely employed.

Methods: From April to November 2020, we monitored 12 patients with SBMA with telehealth and administered remotely two clinical scales currently used for SBMA: Adult Myopathy Assessment Tool (AMAT) and SBMA-Functional Rating Scale (SBMA-FRS).

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Systematic Review and Meta-analysis Seem to Indicate that Cannabinoids for Chronic Primary Pain Treatment Have Limited Benefit.

Pain Ther

December 2022

Department of Medical Biotechnology and Translational Medicine, Postgraduate School of Clinical Pharmacology and Toxicology, Università degli Studi di Milano, Milan, Italy.

Article Synopsis
  • The IASP ICD-11 defines chronic primary pain (CPP) and notes increasing interest in cannabinoids as a treatment, though evidence for their efficacy in CPP is limited.
  • This systematic review aims to analyze the effectiveness and safety of cannabinoids for managing CPP by reviewing randomized controlled trials and other studies.
  • The review included eight studies from 3007 records, focusing on outcomes like pain reduction, quality of life, and various mental health aspects, along with assessing safety and potential biases.
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