Publications by authors named "Tramacere I"

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.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Introduction: Surgical training traditionally adheres to the apprenticeship paradigm, potentially exposing trainees to an increased risk of complications stemming from their limited experience. To mitigate this risk, augmented and virtual reality have been considered, though their effectiveness is difficult to assess.

Research Question: The PASSION study seeks to investigate the improvement of manual dexterity following intensive training with neurosurgical simulators and to discern how surgeons' psychometric characteristics may influence their learning process and surgical performance.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF
Article Synopsis
  • Shoe devices like shoe inserts, orthopaedic shoes, and ankle-foot orthoses (AFOs) are key for managing Charcot-Marie-Tooth disease (CMT), but detailed data on their usage and effectiveness is limited.
  • An online survey of 266 CMT patients showed that while 70% were prescribed orthoses, many abandoned their use due to complications—especially with AFOs, which had the highest rates of emotional distress and physical issues.
  • The findings suggest a need for better personalization and support in prescribing these devices to improve patient satisfaction and adherence.
View Article and Find Full Text PDF

Background: Sleep abnormalities have been reported in Charcot-Marie-Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients' series.

Methods: Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls.

View Article and Find Full Text PDF
Article Synopsis
  • The Italian CMT Registry collects data on Charcot-Marie-Tooth (CMT) disease, with 1012 patients registered and a focus on a minimal dataset and encrypted data.
  • Among the patients, demyelinating CMT is the most prevalent subtype, with PMP22 duplications being the most common genetic mutation found.
  • The registry highlights the various clinical features and progression of different CMT types, showing the utility of the database for future clinical research and trials.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Background And Purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated.

Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group.

View Article and Find Full Text PDF

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).

View Article and Find Full Text PDF
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.
View Article and Find Full Text PDF

Background: The whole hospital system was stressed and at risk in the first phase of the pandemic. This study examined the prevalence of post-traumatic stress disorder (PTSD) in all hospital staff, medical and non-medical, within two months of the pandemic declaration. Survey concerned staff 4510 health workers of Italian Highly Specialized Research Hospitals.

View Article and Find Full Text PDF

Background: There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT.

Methods: We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls.

View Article and Find Full Text PDF