Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

Introduction And Aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures.

Results: A 71-year-old man was referred with limb-girdle/axial myopathy and fatigability since infancy. In his thirties, a decremental response was observed at 3Hz-nerve stimulation, although testing seronegative for anti-neuromuscular junction antibodies.

The Role of Brain Plasticity in Neuromuscular Disorders: Current Knowledge and Future Prospects.

: Increasing evidence shows an involvement of brain plasticity mechanisms in both motor and central manifestations of neuromuscular disorders (NMDs). These mechanisms could be specifically addressed with neuromodulation or rehabilitation protocols. The aim of this scoping review is to summarise the evidence on plasticity mechanisms' involvement in NMDs to encourage future research.

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

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.

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

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).

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

Background And Purpose: Advances in multidisciplinary care are extending overall survival in Duchenne muscular dystrophy (DMD) patients. Our research objective was to delineate the clinical characteristics of this particular cohort and identify novel challenges associated with the disease.

Methods: Nineteen individuals aged 25-48 years (median 34 years) with a confirmed diagnosis of out-of-frame DMD gene mutation were selected.

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Background: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based platform that seeks to boost active collaboration within and across the network, implementing data sharing. Through CPMS, it is possible to both discuss patient cases and to make patients' data available for registries and databases in a secure way.

Effect of Cellulose-Based Bioplastics on Current LDPE Recycling.

The increased use of bioplastics in the market has led to their presence in municipal solid waste streams alongside traditional fossil-based polymers, particularly low-density polyethylene (LDPE), which bioplastics often end up mixed with. This study aimed to assess the impact of cellulose acetate plasticized with triacetin (CAT) on the mechanical recycling of LDPE. LDPE-CAT blends with varying CAT content (0%, 1%, 5%, 7.

Life cycle assessment of end-of-life options for cellulose-based bioplastics when introduced into a municipal solid waste management system.

The partial degradation of cellulose-based bioplastics in industrial treatment of organic fraction of Municipal Solid Waste (MSW) opened to the investigation of further disposal routes for bioplastics in the waste management system. For this purpose, the environmental footprint of three MSW management scenarios differing only for the bioplastics final destination (organic, plastic or mixed waste streams) was assessed through a Life Cycle Assessment (LCA) approach. Results revealed how the treatment of bioplastics with organic waste achieved the worst environmental performance (5.

Co-digestion of food waste and cellulose-based bioplastic: From batch to semi-continuous scale investigation.

Only few studies on the behaviour of bioplastics in anaerobic co-digestion could be found in literature and most of them are conducted in batch mode. Despite the fact that continuous experiments confirm or add new insight to the findings acquired from batch ones, there is still lack of such studies. This work aims to cover this gap, carrying out a semi-continuous anaerobic co-digestion of food waste and cellulose acetate (which its behaviour under anaerobic environment is also quite unexplored).

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

Background: Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.

Methods: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).

Effects of cellulose-based bio-plastics on the aerobic biological stabilization treatment of mixed municipal solid waste: A lab-scale assessment.

The aim of this work is to assess how the presence of cellulose-based bio-plastics influence the biological stabilization of mixed Municipal Solid Waste (MSW). For the scope, two cellulose acetate bio-plastics have been mixed with a synthetic mixed waste to create samples with and without bio-plastics. A self-induced biostabilization has been carried out for 7 and 14 days where temperature and off-gas have been monitored continuously.

The influence of bio-plastics for food packaging on combined anaerobic digestion and composting treatment of organic municipal waste.

The use of bio-plastic-based packaging as an alternative to conventional plastic packaging is increasing. Among the plethora of different bio-based plastics, the most relevant ones are those that, at the end of their life, can be treated with the organic fraction of municipal solid waste. Even in these cases, their impact on the waste processing and recycling is not always positive.

The role of (bio)degradability on the management of petrochemical and bio-based plastic waste.

In order to mitigate the social and ecological impacts of post-consumer plastic made of conventional petrochemical polymers, the market of (bio)degradable plastics have recently become more widespread. Although (bio)degradable plastics could be an environmentally friendly substitute of petrochemical ones, the consequences of their presence in the waste management system and in the environment (if not correctly disposed) are not always positive and plastic pollution is not automatically solved. Consequently, this work aims to review how plastic (bio)degradability affects the municipal solid waste management cycle.

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.

Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in these conditions.

Assessment of the Hyperspectral Data Analysis as a Tool to Diagnose in the Asymptomatic Leaves of Olive Plants.

is a bacterial pathogen affecting many plant species worldwide. Recently, the subspecies () has been reported as the causal agent of a devastating disease on olive trees in the Salento area (Apulia region, southeastern Italy), where centenarian and millenarian plants constitute a great agronomic, economic, and landscape trait, as well as an important cultural heritage. It is, therefore, important to develop diagnostic tools able to detect the disease early, even when infected plants are still asymptomatic, to reduce the infection risk for the surrounding plants.

Feasibility Analysis on the Adoption of Decentralized Anaerobic Co-Digestion for the Treatment of Municipal Organic Waste with Energy Recovery in Urban Districts of Metropolitan Areas.

Anaerobic digestion (AD) of organic fraction of municipal solid waste (OFMSW) is considered an excellent solution for both waste management and energy generation, although the impacts of waste collection and transportation on the whole management system are not negligible. AD is often regarded as a centralized solution for an entire community, although recently, there has been some debate on the adoption of decentralized, smaller facilities. This study aims to evaluate the techno-economic feasibility of an AD plant at the local scale for the treatment of organic waste generated from urban districts.

A geostatistical fusion approach using UAV data for probabilistic estimation of Xylella fastidiosa subsp. pauca infection in olive trees.

Xylella fastidiosa is one of the most destructive plant pathogenic bacteria worldwide, affecting more than 500 plant species. In Apulia region (southeastern Italy), X. fastidiosa subsp.

Association of functional genetic variation in PP2A with prefrontal working memory processing.

Variation in prefrontal dopaminergic signaling mediated by D2 receptor has been implicated in cognitive phenotypes of schizophrenia, including working memory. Molecular cascades downstream of D2 receptor include a cAMP-dependent- and a cAMP-independent-pathway. Protein-Phosphatase-2A (PP2A) is a key partner of D2 receptor in cAMP-independent signaling.

Reduced-dose fludarabine, cyclophosphamide, and rituximab (FCR-Lite) plus lenalidomide, followed by lenalidomide consolidation/maintenance, in previously untreated chronic lymphocytic leukemia.

Fludarabine, cyclophosphamide, and rituximab (FCR) remains the standard of care for fit chronic lymphocytic leukemia (CLL) patients requiring first therapy. However, side effects can be significant, and patients with poor risk features have inferior outcomes. The purpose of this study was to evaluate reduced-dose FCR (FCR-Lite) plus lenalidomide (FCR(2) ) followed by lenalidomide maintenance as a strategy to shorten immunochemotherapy in untreated CLL.

Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity.

Eukaryotic cells contain a population of mitochondria, variable in number and shape, which in turn contain multiple copies of a tiny compact genome (mtDNA) whose expression and function is strictly coordinated with the nuclear one. mtDNA copy number varies between different cell or tissues types, both in response to overall metabolic and bioenergetics demands and as a consequence or cause of specific pathological conditions. Here we present a novel and reliable methodology to assess the effective mtDNA copy number per diploid genome by investigating off-target reads obtained by whole-exome sequencing (WES) experiments.

Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Introduction: Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing.

Methods: This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013.