Project description:Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement therapy (ERT) has become widely available in 2001. With rising awareness and rising numbers of (diagnosed) patients, physicians encounter new challenges. Over 900 α-Gal gene mutations are currently known, some with doubtful clinical significance, posing diagnostic and prognostic difficulties for the clinician and a lot of uncertainty for patients. Another challenge are patients who develop neutralising antibodies to ERT, which possibly leads to reduced therapy effectiveness. In this article, we summarise the latest developments in the science community regarding diagnostics and management of this rare lysosomal storage disorder and offer an outlook to future treatments.
Project description:Do scientists follow hot topics in their scientific investigations? In this paper, by performing analysis to papers published in the American Physical Society (APS) Physical Review journals, it is found that papers are more likely to be attracted by hot fields, where the hotness of a field is measured by the number of papers belonging to the field. This indicates that scientists generally do follow hot topics. However, there are qualitative differences among scientists from various countries, among research works regarding different number of authors, different number of affiliations and different number of references. These observations could be valuable for policy makers when deciding research funding and also for individual researchers when searching for scientific projects.
Project description:AimsComprehensive data on research undertaken in cardiovascular medicine can inform the scientific community and can support policy building. We used the publication output from 2004 to 2013 and the 2014 references to these documents, to identify research topics and trends in the field of cardiovascular disease.Methods and resultsText fragments were extracted from the titles and abstracts of 478 000 publications using natural language processing. Through machine-learning algorithms, these text fragments combined to identify specific topics across all publications. A second method, which included cross-references, assigned each publication document to a specific cluster. Experts named the topics and document clusters based on various outputs from these semi-automatic methods. We identified and labelled 175 cardiovascular topics and 20 large document clusters, with concordance between the approaches. Overarching, strongly growing topics in clinical and population sciences are evidence-based guidance for treatment, research on outcomes, prognosis, and risk factors. 'Hot' topics include novel treatments in valve disease and in coronary artery disease, and imaging. Basic research decreases its share over time but sees substantial growth of research on stem cells and tissue engineering, as well as in translational research. Inflammation, biomarkers, metabolic syndrome, obesity, and lipids are hot topics across population, clinical and basic research, supporting integration across the cardiovascular field.ConclusionGrowth in clinical and population research emphasizes improving patient outcomes through novel treatments, risk stratification, and prevention. Translation and innovation redefine basic research in cardiovascular disease. Medical need, funding and publishing policies, and scientific opportunities are potential drivers for these evolutions.
Project description:The year 2018 heralded many new developments in the field of tropical medicine, including licensure of novel drugs for novel indications, licensure of existing drugs for existing indications but in novel settings, and globalized outbreaks of both vector-borne and zoonotic diseases. We herein describe five top stories in tropical medicine that occurred during 2018, and illuminate the practice-changing development within each story.
Project description:Multiple Myeloma (MM) remains a difficult to treat disease mainly due to its biological heterogeneity, of which we are more and more knowledgeable thanks to the development of increasingly sensitive molecular methods that allow us to build better prognostication models. The biological diversity translates into a wide range of clinical outcomes from long-lasting remission in some patients to very early relapse in others. In NDMM transplant eligible (TE) patients, the incorporation of mAb as daratumumab in the induction regimens, followed by autologous stem cell transplantation (ASCT) and consolidation/maintenance therapy, has led to a significant improvement of PFS and OS.; however, this outcome remains poor in ultra-high risk MM or in those who did not achieve a minimal residual disease (MRD) negativity. Several trials are exploring cytogenetic risk-adapted and MRD-driven therapies in these patients. Similarly, quadruplets-containing daratumumab, particularly when administered as continuous therapies, have improved outcome of patients not eligible for autologous transplant (NTE). Patients who become refractory to conventional therapies have noticeably poor outcomes, making their treatment a difficult challenge in need of novel strategies. In this review, we will focus on the main points regarding risk stratification, treatment and monitoring of MM, highlighting the most recent evidence that could modify the management of this still incurable disease.
Project description:MRI-guided focused ultrasound surgery (MRgFUS) is a minimally invasive treatment guided by the most sophisticated imaging tool available in today's clinical practice. Both the imaging and therapeutic sides of the equipment are based on non-ionizing energy. This technique is a very promising option as potential treatment for several pathologies, including musculoskeletal (MSK) disorders. Apart from clinical applications, MRgFUS technology is the result of long, heavy and cumulative efforts exploring the effects of ultrasound on biological tissues and function, the generation of focused ultrasound and treatment monitoring by MRI. The aim of this article is to give an updated overview on a "new" interventional technique and on its applications for MSK and allied sciences.
Project description:This study visualized and analyzed the developing trends and hot topics in natural disaster research. 19694 natural disaster-related articles (January 1900 to June 2015) are indexed in the Web of Science database. The first step in this study is using complex networks to visualize and analyze these articles. CiteSpace and Gephi were employed to generate a countries collaboration network and a disciplines collaboration network, and then attached hot topics to countries and disciplines, respectively. The results show that USA, China, and Italy are the three major contributors to natural disaster research. "Prediction model", "social vulnerability", and "landslide inventory map" are three hot topics in recent years. They have attracted attention not only from large countries like China but also from small countries like Panama and Turkey. Comparing two hybrid networks provides details of natural disaster research. Scientists from USA and China use image data to research earthquakes. Indonesia and Germany collaboratively study tsunamis in the Indian Ocean. However, Indonesian studies focus on modeling and simulations, while German research focuses on early warning technology. This study also introduces an activity index (AI) and an attractive index (AAI) to generate time evolution trajectories of some major countries from 2000 to 2013 and evaluate their trends and performance. Four patterns of evolution are visible during this 14-year period. China and India show steadily rising contributions and impacts, USA and England show relatively decreasing research efforts and impacts, Japan and Australia show fluctuating activities and stable attraction, and Spain and Germany show fluctuating activities and increasing impacts.
Project description:Gastric cancer (GC) is one of the most prevalent malignant types in the world and an aggressive disease with a poor 5-year survival. This cancer is biologically and genetically heterogeneous with a poorly understood carcinogenesis at the molecular level. Although the incidence is declining, the outcome of patients with GC remains dismal. Thus, the detection at an early stage utilizing useful screening approaches, selection of an appropriate treatment plan, and effective monitoring is pivotal to reduce GC mortalities. Identification of biomarkers in a basis of clinical information and comprehensive genome analysis could improve diagnosis, prognosis, prediction of recurrence and treatment response. This review summarized the current status and approaches in GC biomarker, which could be potentially used for early diagnosis, accurate prediction of therapeutic approaches and discussed the future perspective based on the molecular classification and profiling.