Publications by authors named "Bello L"

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.
View Article and Find Full Text PDF

Background: Supratotal-Resection (SpTR) is a promising surgical strategy in Lower-grade gliomas (LGGs). SpTR assessment, feasibility and distinctive features, as well as clinical benefit at first and second surgery and on overall-survival must be better characterized. The critical percentage of resection exceeding FLAIR margins to obtain clinical benefit and its impact on long-term functional performance are also undefined.

View Article and Find Full Text PDF

Vestibulodynia (VBD) represents a summation and overlapping of trigger factors (infections, hormonal disturbances, allergies, genetic aspects, psychological vulnerability, and others) with broad individual variability. As there are no standard treatment options for VBD, the disease is still in need of appropriate therapeutic tools. : A prospective observational trial was performed to confirm the efficacy of a topical gel containing a spermidine-hyaluronate complex (UBIGEL donna™) as either a stand-alone or companion treatment through a multicenter study on a large sample population.

View Article and Find Full Text PDF

Objective: Sexual functioning is a multifaceted aspect of human life that can be profoundly affected in patients with glioma. Most frequent symptoms include reduced sexual desire, difficulties in sexual arousal, or low satisfaction. Such symptoms may cause distress or interpersonal difficulties, inevitably resulting in negative outcomes on different domains of patients' quality of life.

View Article and Find Full Text PDF
Article Synopsis
  • Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
  • A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
  • Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
View Article and Find Full Text PDF

Background: Following surgery, patients with newly diagnosed glioblastoma frequently enter clinical trials. Nuanced risk assessment is warranted to reduce imbalances between study arms. Here, we aimed (I) to analyze the interactive effects of residual tumor with clinical and molecular factors on outcome and (II) to define a postoperative risk assessment tool.

View Article and Find Full Text PDF
Article Synopsis
  • Duchenne Muscular Dystrophy (DMD) is a serious, progressive disorder that leads to muscle wasting and other complications, requiring a combination of therapies and new approaches to patient care.
  • Experts in Italy discussed the challenges of transitioning care for DMD patients from pediatric to adult services, emphasizing the importance of continuous treatment and tracking relevant health outcomes after patients lose their ability to walk.
  • Following loss of ambulation, care shifts focus toward cardiac and respiratory health, nutrition, and the maintenance of upper limb function, highlighting the need for shared protocols and better data collection for optimized management.
View Article and Find Full Text PDF

Background And Aims: Ultrasound nerve cross-sectional area (CSA) of patients affected with axonal neuropathy usually shows normal value. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) seems to represent an exception, showing smaller CSA, but previous reports did not test for biallelic RFC1 gene repeat expansions.

Methods: We compared nerve CSA from CANVAS patients (tested positive for biallelic RFC1 gene repeat expansions) with the CSA from a group of patients with chronic idiopathic axonal polyneuropathy (CIAP) who tested negative for RFC1 gene repeat expansions, hereditary axonal neuropathy (Charcot-Marie-Tooth type 2, CMT2), and Friedreich ataxia (FRDA).

View Article and Find Full Text PDF

Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses. Clinical practice guidelines recommend biennial lung function assessments in patients with dysferlinopathy to screen for respiratory impairment. However, lack of universal access to spirometry equipment and trained specialists makes regular monitoring challenging.

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

Background And Purpose: The aim was to investigate whether neurofilament light chain (NfL) and profilin-1 (PFN-1) might qualify as surrogate disease and treatment-response biomarkers by correlating their concentrations dynamic with clinical status in a cohort of 30 adult spinal muscular atrophy type 3 patients during nusinersen therapy up to 34 months.

Methods: Neurofilament light chain was measured in cerebrospinal fluid at each drug administration with a commercial enzyme-linked immunosorbent assay (ELISA); PFN-1 concentrations were tested in serum sampled at the same time points with commercial ELISA assays. Functional motor scores were evaluated at baseline, at the end of the loading phase and at each maintenance dose and correlated to biomarker levels.

View Article and Find Full Text PDF

Soluble redox-active polymers (RAPs) enable size-exclusion nonaqueous redox flow batteries (NaRFBs) which promise high energy density. Pendants along the RAPs not only store charge but also engage in electron transfer to varying extents based on their designs. Here, we explore these phenomena in Metal-containing Redox Active Polymers (M-RAPs, M = Ru, Fe, Co).

View Article and Find Full Text PDF

Background: Data on human brain function obtained with direct electrical stimulation (DES) in neurosurgical patients have been recently integrated and combined with modern neuroimaging techniques, allowing a connectome-based approach fed by intraoperative DES data. Within this framework is crucial to develop reliable methods for spatial localization of DES-derived information to be integrated within the neuroimaging workflow.

New Method: To this aim, we applied the Kernel Density Estimation for modelling the distribution of DES sites from different patients into the MNI space.

View Article and Find Full Text PDF

Background And Objectives: Patients with -mutant lower-grade glioma have a high frequency of seizures. We aimed to investigate the correlations between seizures and tumor/patient characteristics and the impact of surgery and adjuvant treatments (AT) on seizure control along the disease trajectory.

Methods: We retrospectively included patients with -mutant lower-grade glioma who underwent surgery at the neurosurgery divisions of the University of Turin and Milan and were treated at the Division of Neuro-Oncology of Turin.

View Article and Find Full Text PDF
Article Synopsis
  • * Vamorolone, a drug for Duchenne muscular dystrophy, is metabolized by specific enzymes (CYP3A4, CYP3A5, UGT1A1), and this study looks at its pharmacokinetics in young boys with DMD.
  • * Analysis found that the pharmacokinetics of vamorolone were consistent across subjects, and genetic variations in the enzymes studied did not significantly affect how the drug was processed in their bodies.
View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations result in different phenotypes and disease severity. Understanding genotype/phenotype correlations is essential to optimize clinical care, as mutation-specific therapies and innovative therapeutic approaches are becoming available.

View Article and Find Full Text PDF
Article Synopsis
  • Scientists studied how the brain controls hand movements for grabbing things in both humans and monkeys using special techniques like brain scans.
  • They looked at research articles to find out what parts of the brain were active when people and monkeys grabbed objects.
  • The study aimed to connect what they learned about brain activity in these tests to real-life brain surgery where doctors need to know how to avoid important areas while operating.
View Article and Find Full Text PDF

Duchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna) is an oral drug promoting the readthrough of premature stop codons caused by nonsense mutation (nm) in order to produce full-length dystrophin.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

The treatment of glioblastoma (GBM) faces significant challenges due to the difficulty of delivering drugs through the blood-brain barrier (BBB). Extracellular vesicles (EVs) have emerged as potential carriers for targeted drug delivery to brain tumors. However, their use and distribution in the presence of an intact BBB and their ability to target GBM tissue are still under investigation.

View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is a neuromuscular condition characterized by muscle weakness. The Performance of upper limb (PUL) test is designed to evaluate upper limb function in DMD patients across three domains. The aim of this study is to identify frequently lost or gained PUL 2.

View Article and Find Full Text PDF

We present a mode-locked semiconductor laser oscillator that emits few picosecond pulses (5-8ps at a repetition rate of 379MHz and wavelength of 1064nm) with record peak power (112W) and pulse energy (0.5nJ) directly out of the oscillator (with no amplifier). To achieve this high power performance we employ a high-current broad-area, spatially multi-mode diode amplifier (0.

View Article and Find Full Text PDF