Mcardle disease: Update of reported mutations and polymorphisms in the Pygm gene

McArdle disease is an autosomal recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or ‘myophosphorylase´), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases limitations in activities of daily living. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense.

Update in the management of critically ill burned patients

The management of critically ill burn patients is challenging. These patients have to be managed in specialized centers, where the expertise of physicians and nursing personnel guarantees the best treatment. Mortality of burn patients has improved over the past decades due to a better understanding of burn shock pathophysiology, optimal surgical management, infection control and nutritional support. Indeed, a more aggressive resuscitation, early excision and grafting, the judicious use of topical antibiotics, and the provision of an adequate calorie and protein intake are key to attain best survival results. General advances in critical care have also to be implemented, including protective ventilation, glycemic control, selective decontamination of the digestive tract, and implementation of sedation protocols.

Literature review and update of lower limb neural mobilization

Summarize the available literature descriptions of neural mobilization (NM) techniques and neural provocation tests (NPT) for the Lower Limb (LL). Compilation of data was performed in May 2016 using MEDLINE data base, Google Scholar and the library of the European University of Madrid. After application of inclusion/exclusion criterions 5 books and 14 journal publications where found to be of interest and used during data extraction.Results: a list of 8 different LLNM techniques are applied in a rhythmic alternating oscillatory cycle fashion, starting in the initial position from where the therapist proceeds to move the limb in order to achieve a final position. LL NPTs are useful tools for differential diagnose and selecting the proper LLNM procedure. There is no consensus about the time frame of repetition intervals or amount of tensile strength during NPT never the less it is found to normally be performed at a rate of 2-4 seconds per complete cycle of movement, during 1-5 minutes, 3-5 times a week. LLNM treatment techniques all thou increasingly popular in clinical practice are found to be frugally described and lack proper standardization in regards to therapeutic dosification.