Survival of patients with congenital heart disease has significantly improved over the last 2 decades, confronting interventionalists, surgeons, anesthesiologists, cardiologists, and intensivists with often unfamiliar complex pathophysiology in the perioperative setting. Aside from cardiac catheterization, echocardiography has become the main imaging modality in the hospitalized adult with congenital heart disease. The great variety of congenital lesions and their prior surgical management challenges practitioners to generate optimal imaging, reporting, and interpretation of these complex anatomic structures. Standardization of echocardiographic studies can not only provide significant benefits in the surveillance of these patients, but also facilitate understanding of pathophysiologic mechanism and assist clinical management in the perioperative setting. Knowledge in obtaining and interpreting uniform imaging protocols is essential for the perioperative clinician. In this publication, the authors review current international consensus recommendations on echocardiographic imaging of adults with congenital heart disease and describe the fundamental components by specific lesion. The authors will emphasize key aspects pertinent to the clinical management when imaging these patients in the perioperative setting. The goal of this review is to familiarize the perioperative physician on how to structure and standardize echocardiographic image acquisition of congenital heart disease anatomy for optimal clinical management. Actin is one of the most abundant and essential intracellular proteins that mediates nearly every form of cellular movement and underlies such key processes as embryogenesis, tissue integrity, cell division and contractility of all types of muscle and non-muscle cells. In mammals, actin is represented by six isoforms, which are encoded by different genes but produce proteins that are 95-99 % identical to each other. The six actin genes have vastly different functions in vivo, and the small amino acid differences between the proteins they encode are rigorously maintained through evolution, but the underlying differences behind this distinction, as well as the importance of specific amino acid sequences for each actin isoform, are not well understood. This review summarizes different levels of actin isoform-specific regulation in cellular and developmental processes, starting with the nuclear actin’s role in transcription, and covering the gene-level, mRNA-level, and protein-level regulation, with a special focus on mammalian actins in non-muscle cells. Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤10 years), seen regularly at two UK specialist centres, over a period of 11 years. The cohort was multi-ethnic, with a high number of non-Caucasians (52%). Ocular presentation was seen in 38 (51%) and only 8 (21%) of these generalised. Fifty-two (70%) patients had antibodies to the acetylcholine receptor (AChR) measured by radioimmunoprecipitation, 10 (14%) had antibodies only to clustered AChRs detected by a cell based assay, 3 (4%) had muscle-specific kinase and one (1%) low-density lipoprotein receptor-related protein 4 antibody. Only 8 (11%) had no detectable antibodies. Seventeen patients attained drug free remission (Kaplan Meyer survival curve estimates 25% by 7 years). Several factors were associated with a higher likelihood of free remission onset age ≤10 years, Asian and Caucasian races, lack of AChR antibodies on RIA, and normal repetitive nerve stimulation at diagnosis. However, in a multifactorial regression analysis, the antibody status was the only significant predictor for drug free remission, with 60% of patients with antibodies only to clustered AChR achieving this outcome. Complete drug free remission is not uncommon in paediatric MG and several factors appear to influence this outcome with antibody status being the most important. These factors can be easily evaluated at diagnosis, and may help to determine whose patients are likely to require more intensive treatments. Subjects affected by Duchenne muscular dystrophy (DMD) develop severe malocclusions with the progression of the disease, due to changes in orofacial musculature and function, including tongue hypertrophy. We aimed to evaluate the benefits of maintaining mandibular interarch width with the help of a simple fixed orthodontic appliance. Three adolescent DMD boys were selected consecutively to receive a passive rigid mandibular lingual arch, and followed for 4-5 years. An untreated age-matched control group was chosen and followed for a similar period. Study casts were obtained at baseline and after follow-up. Outcomes measured were overjet, overbite, maxillary and mandibular intermolar widths, mandibular arch depth, molar relationships, and the presence of lateral crossbites and anterior or lateral openbites. Changes in measurements obtained between the two time points were compared in each age-matched pair. There was a clinically important increase in the mandibular intermolar width in the non-treated children ranging from 2.5 mm to 9 mm, but not in those treated. Malocclusions generally deteriorated in untreated children while they remained stable in treated children. The use of a rigid mandibular lingual arch in boys with DMD can help slow down the rapid deterioration of the developing malocclusions that accompanies the progression of the disease. FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with postural muscle atrophy (XMPMA), X-linked Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy, are clinically and pathologically heterogeneous disorders caused by FHL1 gene mutations. According to previous reports, the first three types are myopathies with reducing bodies observed in biopsies, and the last three are myopathies without reducing bodies. We report four FHL1-related myopathy patients, including an XMPMA patient and a RBM family with three patients. Clinical information, muscle biopsies, electromyograms and genetic testing were obtained. Selleckchem Quizartinib Muscle weakness and atrophy, spinal rigidity, and joint contracture were present in the RBM family. The XMPMA patient showed a pseudoathletic appearance with muscle weakness and atrophy, spinal rigidity and deformity. The index patient of the RBM family underwent two muscle biopsies to find reducing bodies.