A5042571134- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Trace Elements in Health
- Genetics and Neurodevelopmental Disorders
- Muscle activation and electromyography studies
- Cephalopods and Marine Biology
- Environmental Toxicology and Ecotoxicology
- Plant Pathogens and Fungal Diseases
- Cerebral Palsy and Movement Disorders
- Children's Physical and Motor Development
- Cocoa and Sweet Potato Agronomy
- Enzyme Production and Characterization
- Phytoplasmas and Hemiptera pathogens
- Phytase and its Applications
- Neuroendocrine regulation and behavior
- Neurotransmitter Receptor Influence on Behavior
- Cardiac Structural Anomalies and Repair
- Plant Virus Research Studies
- Transcranial Magnetic Stimulation Studies
- Family and Disability Support Research
- Echinoderm biology and ecology
- Organic and Inorganic Chemical Reactions
- Planarian Biology and Electrostimulation
Università Cattolica del Sacro Cuore
2022-2024
Centro Clinico Nemo
2022-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
Agostino Gemelli University Polyclinic
2022-2024
Institute of Protein Biochemistry
1991-2010
Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months <8.5 kg has been reported in clinical trials. This study examines efficacy predictors a wide age (22 days-72 months) weight (3.2-17 kg) range, also including patients previously treated with other drugs.46 were 12 between January 2020 March 2022. Safety profile was available another 21 at least 6 month follow-up after OA infusion. 19/67 treatment naïve when OA. Motor function measured the...
Abstract The study reports real world data in type 2 and 3 SMA patients treated for at least years with nusinersen. Increase motor function was observed after 12 months during the second year. magnitude of change variable across age functional subgroup, largest changes young higher baseline. When compared to natural history data, difference between cohort untreated swas significant on both Hammersmith Functional Motor Scale Revised Upper Limb Module 24 months.
The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate possible presence of early neurological signs. aim this study was use Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed floppy infants assess variability findings in identified screening. included were as part pilot exploring screening two Italian regions. A examination performed...
<h3>Objective:</h3> Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim was to assess prevalence of SMA and treatment prescription Italy. <h3>Methods:</h3> An online survey distributed 36 centers identified Italian government as referral for SMA. Data on number patients subdivided according age, type, <i>SMN2</i> copy were collected. <h3>Results:</h3> 1255 are currently followed with an estimated 2.12/100000. Of 1255, 284 type I, 470...
Objective The aim of this study was to provide an overview the clinical phenotypes associated with 4 SMN2 copies. Methods Clinical were analyzed in all patients copies as part a nationwide effort including Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). Results cohort includes 169 (102 men 67 women) confirmed (mean age at last follow‐up = 36.9 ± 19 years). Six presymptomatic, 8 classified type II, 145 III (38 IIIA 107 IIIB), IV. remaining 2 asymptomatic...
Background Type II spinal muscular atrophy (SMA) often leads to scoliosis in up 90% of cases. While pharmacological treatments have shown improvements motor function, their impact on progression remains unclear. This study aims evaluate potential differences between treated and untreated SMA patients. Methods Treatment effect Cobb’s angle annual changes reaching a 50° Cobb was analysed type patients with minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment...
The aim of the study was to retrospectively evaluate consistency longitudinal findings on intellectual functioning in DMD boys and their relationship behavioral neuropsychiatric difficulties. cohort included 70 patients age 3 17 years with at least two assessments using Wechsler scales. CBCL clinical observation behavior were also performed. Changes total intelligence quotient interpreted as stable or not reliable-change method. On first assessment 43/70 had normal quotients, 18 borderline,...
Abstract Our aim was to develop a new module for assessing the floppy infant, describe application of in cohort low-risk newborns and piloting infants. The applied 143 piloted 24 add-on includes neurological section provides recording information obtained by physical examination antenatal history. For each item, column 1 reports abnormal findings, 3 normal 2 intermediate signs be followed. Consistent with previous studies, infants, none had definitely or mildly signs, exception tendon...
The performance of upper limb 2.0 (PUL) is widely used to assess function in DMD patients. aim the study was 24 month PUL changes a large cohort patients and establish whether domains occur more frequently specific functional subgroups.The performed 311 who had at least one pair assessments months, for total 808 paired assessments. Ambulant were subdivided according ability walk: >350, 250-350, ≤250 meters. Non ambulant time since they lost ambulation: <1, 1-2, 2-5 or >5 years.At 12 mean...
The aim of this study was to assess early language acquisitions in treated individuals with spinal muscular atrophy (SMA) type 1 and infants identified by newborn screening (NBS).
Abstract Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether presence and severity signs have an effect on development motor milestones. Infants identified through newborn were prospectively assessed using a structured neonatal neurological examination additional module developed assessment floppy infants. As part follow-up, all HINE-2 developmental Only at least 24 months follow-up included. Normal...
Abstract Metallothionein presence and amount were determined in the unfertilized eggs of six sea urchin species by silver saturation assay gel‐chromatography cell extracts. The results showed high levels metallothionein egg cytoplasm two Mediterranean Paracentrotus lividus Sphaerechinus granularis. No was found either Arbacia lixula, or those three Eastern Strongylocentrotus intermedius, Temnopleurus hardwickii Clypeaster japonicus. However, extracts latter revealed zinc bound a...