A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

Introduction: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients. Methods: We collected clinical and neurophysiological data from the medical records of seventeen NSPME patients (5–46 years). In addition, we conducted an interview focused on factors influencing myoclonus severity. Results: The core clinical features of NSPME are early-onset ataxia, myoclonus and seizures, with additionally areflexia and scoliosis. Factors such as fever, illness, heat, emotions, stress, noise and light (flashes) all exacerbated myoclonic jerks. Epilepsy severity ranged from the absence of or incidental clinical seizures to frequent daily seizures and status epilepticus. Some patients made use of a wheelchair during their first decade, whereas others still walked independently during their third decade. Neurophysiological features suggesting neuromuscular involvement in NSPME were variable, with findings ranging from indicative of sensory neuronopathy and anterior horn cell involvement to an isolated absent H-reflex. Conclusion: Although the sequence of symptoms is rather homogeneous, the severity of symptoms and rate of progression varied considerably among individual patients. Common triggers for myoclonus can be identified and myoclonus is difficult to treat; to what extent neuromuscular involvement contributes to the phenotype remains to be further elucidated

Elastin in vascular grafts

The clinical demand for a superior vascular graft is rising due to the increase in cardiovascular disease with an aging population. Despite decades of research, clinically translatable solutions remain limited. Recent progress in vascular graft engineering has highlighted the significance of biological integration for the success of implanted grafts. Thus there has been an increase in the usage of biological materials in vascular graft manufacture. Elastin, a natural protein that makes up a significant portion of the natural vascular extracellular matrix, has been demonstrated to be particularly important with both mechanical and biological modulatory roles. Progress in understanding elastogenesis, the process by which elastin is naturally synthesized, and increased access to synthetic elastin-based materials, has increased the usage of elastin in vascular graft engineering. In this chapter, we explore recent advances in the utilization of elastin as a material for vascular graft engineering. In particular, we focus on the myriad of methods which incorporate elastin into vascular grafts which demonstrate superior biological functionality and closer resemblance to native blood vessels