Guanylate cyclase activity has been studied in muscle of normal subjects and of patients suffering from muscular and neuromuscular diseases. In normal tissue a guanylate cyclase activity was found in both soluble and particulate fractions of homogenate. We found also that the kinetic analysis of the enzyme of soluble differed from that of particulate fraction. A decrease of guanylate cyclase ac...

The clearance of airway secretions from the lungs is normally supported by the mucociliary escalator and by cough. These protective mechanisms provide an effective means of pulmonary-hygiene maintenance in healthy individuals. Patients with neuromuscular disease that affects the respiratory pump (the muscles of breathing) can experience mild to profound limitation in both ventilation and cough....

This European Neuromuscular Centre (ENMC) care workshop was attended by 19 professionals working in the field of neuromuscular disorders (pediatric and adult), pain or fatigue from 8 different countries (USA, Great Britain, Germany, France, Italy, Sweden, Denmark and the Netherlands), and 3 patient representatives coming from the Netherlands. This ENMC organized workshop aimed to achieve consen...

ho w t o cit e thi s article : bila n n , p oorshir i b.th e rol e o f ches t physiotherap y i n preventio n o f postextubatio n atelectasi s i n pediatri c patient s wit h neuromuscula r diseases . ira n j chil d neuro l. 2013 winte r; 7 (1) : 21-24 .   objective there are controversial findings in the literature on the effects of chest physiotherapy on postextubation lung collapse in pediatri...

OBJECTIVE: To discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. SOURCES: The review of the clinical aspects that should be considered for a prompt differential diagnosis am...

BACKGROUND Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastruc...

Skeletal muscle formation is a multi-step process that is governed by complex networks of transcription factors. The regulation of their functions is in turn multifaceted, including several mechanisms, among them alternative splicing (AS) plays a primary role. On the other hand, altered AS has a role in the pathogenesis of numerous muscular pathologies. Despite these premises, the causal role p...

Anaesthesia in children with a neuromuscular disease is challenging the anaesthesiologist. In this group occur frequently perioperative complications from muscle weakness, respiratory depression and cardiac involvement. Lack of experience is the reason for uncertainty. Knowledge of the pathophysiology and relevant pharmacology of the disease, preoperative development of an adequate treatment pl...

During mammalian development, neuromuscular junctions and some other postsynaptic cells transition from multiple- to single-innervation as synaptic sites are exchanged between different axons. It is unclear whether one axon invades synaptic sites to drive off other inputs or alternatively axons expand their territory in response to sites vacated by other axons. Here we show that soon-to-be-elim...

260 February 2014 P aspiration is rare during daily life, thanks to amazingly well-organized protective mechanisms, such as swallowing (and coordinated cessation of breathing during swallowing), coughing, and laryngeal closure.1 If any part of these mechanisms is impaired, the risk of aspiration increases. In this issue of ANesthesIOLOgY, hårdemark Cedborg et al.2 have shown that in asymptomati...