Acta Myologica最新文献

Purpose: To assess the reproducibility of a manual muscle MRI segmentation method that follows a specific set of recommendations developed in our center.

Materials and methods: Nine healthy volunteers underwent a muscle MRI examination that included a TSE T2 sequence of the thighs. Muscle segmentation was performed by three operators: an expert operator (OP1) with 3 years of experience and two radiology residents (OP2 and 3) who were both given basic segmentation instructions, whereas only OP2 underwent additional supervised training from OP1. Intra- and inter-operator Dice similarity coefficient (DSC) was calculated.

Results: OP1 showed the highest average intra-operator DSC values (0.885), whereas OP2 had higher average DSC (0.856) compared to OP3 (0.818). The highest inter-operator agreement was observed between Operators 1 and 2 (0.814) and the lowest between OP2 and OP3 (0.702). Confidence interval (CI) analysis showed that the most experienced operator also had the least variability in drawing the ROIs, whereas OP2 showed both higher intra-operator reproducibility compared to OP3 and higher inter-operator agreement with OP1. The muscles that showed the least reproducibility were the semimembranosus and the short head of the biceps femoris.

Discussion: Following specific recommendations such as these ones derived from our single-center experience leads to an overall high reproducibility of manual muscle segmentation and is helpful in improving both intra-operator and inter-operator reproducibility in less experienced operators.

COVID-19 outbreak has quickly reached alarming morbidity and mortality with vaccines being the only weapon to fight. Although the critical situation, no international guidelines on the vaccination management of patients with neuromuscular disorders (NMDs) has still been issued. We aimed to address some unmet needs about the management of COVID-19 vaccination in patients with NMDs.

The outbreak of COVID-19 has forced the health care system to undergo profound rearrangements in services and facilities, especially during the periods of lockdown. In this context, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of severely disabled patients, as those affected by Muscular Dystrophies (MDs). We present the preliminary results of a survey aiming to explore the staff views on the changes in the care provided by the Gaetano Torre Rehabilitation Centre, and, the impact of these changes on professionals, patients and their families. The survey was carried out using an open-ended questionnaire including six-items, on the practical and psychological aspects emerged during the pandemic in relation to the healthcare services provided by the Centre and to the patients/caregivers conditions. The participants, most of them physiotherapists, highlighted 169 aspects emerging in the pandemic, 48.5% referring to the resources used to cope with critical issues and 51.5% concerning the difficulties encountered. Emotional aspects prevailed on practical aspects both in resources (52.4 vs 47.6%) and in difficulties (57.5 vs 42.5%) categories. In particular, with regard to patients' resources, psychological benefits, despite the burden, were greater than practical ones (87 vs 13%), in the form of improved intra-family relationships, feeling more cared for, and satisfaction for the received care. As for the patients' relatives, the staff indicated more resources than difficulties (72.8 vs 17.2%). Among the former, 75% concerned the emotional sphere, such as the perception of having a point of reference even in such a difficult time.

Patients with neuromuscular diseases, during their illness are more susceptible to respiratory infections due to predisposing factors. Ineffective cough and the presence of atelectasis and hypoventilation, dysphagia and drooling can represent risk factors for the development of respiratory infection and fatal respiratory failure. Infections of respiratory tract with acute respiratory failure are the most common reason for hospitalizations, and pneumonia is among the leading causes of morbidity and mortality worldwide. The setting in which pneumonia is acquired heavily influences diagnostic and therapeutic choices. We will focus on aetiopathogenesis, diagnosis and treatment of pneumonia in these subjects, particularly considering the disease severity, rates of antibiotic resistance and the possible complications. In this case consultations with specialized physicians are strongly recommended.

Patients with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to concomitant pathologies, they are often at high risk for anesthesiologic complications. We describe how the non-invasive mechanical ventilation has been an alternative successful respiratory support option during the gastrostomy tube placement in a patient with Duchenne muscular dystrophy, on continuous NIV treatment. This report confirms how the use of NIV can support alveolar ventilation, before, during and after mini-invasive procedures, and prevent respiratory complications.

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) related myositis is a form of immune-mediated necrotizing myopathy (IMNM). Anti-HMGCR autoantibodies target HMGCR, a glycoprotein linked to the endoplasmic reticulum implied in the cholesterol synthesis pathway, and exert a pathogenic effect on skeletal muscle cells. More than 60% of patients affected by HMGCR-related myositis shares statin-exposure in their medical history. Patients commonly experience CK levels elevation, myalgia, muscle weakness and soreness at variable extent, which manifest acutely or sub acutely with a progressively worsening course, in some cases mimicking limb-girdle muscular dystrophies (LGMD) phenotype and treatment is based on an immunosuppressive strategy. Here we present the peculiar case of a previously statins-exposed 72 y.o. asymptomatic man with persistent moderate hyperCKemia and high levels of anti-HMGCR, in which pharmacotherapy has not been initiated yet, while a wait-and-see approach has been adopted instead.

Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker muscular dystrophy (BMD, mild form) and intermediate muscular dystrophy (IMD). Muscle biopsy, immunohistochemistry, molecular (multiplex ligation-dependent probe amplification (MLPA)/next-generation sequencing (NGS) and Sanger methods) and in silico analyses were performed in order to identify alterations in DMD gene and protein in a patient with a clinical manifestation and with high creatine kinase levels. Herein, we described a previously unreported intronic variant in DMD and reduced dystrophin staining in the muscle biopsy. This novel DMD variant allele, c.9649+4A>T that was located in a splice donor site within intron 66. Sanger sequencing analysis from maternal DNA showed the presence of both variant c.9649+4A>T and wild-type (WT) DMD alleles. Different computational tools suggested that this nucleotide change might affect splicing through a WT donor site disruption, occurring in an evolutionarily conserved region. Indeed, we observed that this novel variant, could explain the reduced dystrophin protein levels and discontinuous sarcolemmal staining in muscle biopsy, which suggests that c.9649+4A>T allele may be re-classified as pathogenic in the future. Our data show that the c.9649+4A>T intronic sequence variant in the DMD gene may be associated with an IMD phenotype and our findings reinforce the importance of a more precise diagnosis combining muscle biopsy, molecular techniques and comprehensive in silico approaches in the clinical cases with negative results for conventional genetic analysis.

We describe the case of a 56-year-old-man with limb-girdle muscular dystrophy affected by acute hypercapnic failure secondary to pneumonia treated with high flow nasal cannula, intermittent abdominal ventilation, and negative pressure ventilation. The patient did not tolerate noninvasive positive pressure ventilation and refused invasive ventilation and tracheostomy. We successfully experienced a novel approach combining high flow nasal cannula with cycles of intermittent abdominal pressure ventilation and negative pressure ventilation.

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers.