Annals of medicine
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Exosomes have generated significant interest in the last few decades owing to their important roles in a diverse range of biological pathways. They are nano-sized lipid bilayer membrane vesicles of endosomal origin, and are produced by a vast number of cell types. They are released into the extracellular environment and are found in most biological fluids. ⋯ Key messages Exosome with the function of cell communication, antigen presentation, biomarkers, immune responses and immune regulation have become a hot area and have played an important role in several areas of science and technology especially in medicine. Exosomes play important roles in numerous biological processes as well as in the pathogenesis of ACTDs. Exosome comes into being the non-invasive procedure as potential biomarkers and excellent treatment means in ACTDs.
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Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. Methods: We established the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS; including platelet aggregation, flow cytometry, platelet dense granule content, electron microscopy and high-throughput sequencing (HTS). Results: The clinical presentation showed significant heterogeneity and no clear phenotype-genotype correlations. ⋯ Key messages We established the relationships between the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS. Molecular analysis is useful in confirming the diagnosis and may offer some prognostic information that will aid in optimizing monitoring and surveillance for early detection of end-organ damage. This approach is a proof of principle that HTS can be considered and used in the first-line diagnosis of patients with biological and clinical manifestations suggestive of HPS.
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As the global population ages, there is concern about the effect of an increased proportion of older individuals on the economic sustainability of healthcare systems and the social effects of an older society. Health authorities and advocacy groups in countries at the forefront of this trend are now developing strategies to ameliorate the social and financial effects of an ageing population. There is broad agreement that for both society and for the individuals, it is important to ensure that increasing lifespans are matched with increased "healthspans" - the number of years spent in good health. ⋯ Despite the attested benefits, vaccination coverage is almost always poor in adults, even in countries where access is free at point of care. In this article, we discuss what appears to a neglected issue in adult vaccination, that of personal autonomy. We argue that adult vaccination will only be successful if it respects individual autonomy and that this requires treating the choice to vaccinate as a public health issue akin to smoking cessation, exercise and healthy diet.
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Cardiac resynchronization therapy (CRT) is an effective intervention in selected patients with moderate-to-severe heart failure with reduced ejection fraction and abnormal left ventricular activation time. The non-response rate of approximately 30% has remained nearly unchanged since this therapy was introduced 25 years ago. While intracardiac mapping is widely used for diagnosis and guidance of therapy in patients with tachyarrhythmia, its application in characterization of the electrical substrate to elucidate the mechanisms involved in CRT response remain anecdotal. ⋯ ECG-imaging is a comprehensive non-invasive mapping system which allows to express the amount of electrical asynchrony of a CRT candidate. Non-invasive body surface mapping technologies enables excellent prediction of acute and chronic CRT response before implantation. When performed during CRT or LV-pacing, the added value of these mapping systems remains unclear.
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Background: Melkersson-Rosenthal syndrome (MRS) is often classified under the term orofacial granulomatosis (OFG). A part of OFG patients eventually develop Crohn's disease (CD), but the relationship between MRS and CD is unknown. Goals: To evaluate the long-term outcomes of MRS patients, with specific interest in bowel-related symptoms. ⋯ Key message Melkersson-Rosenthal syndrome (MRS) is a chronic condition often classified as a subtype of orofacial granulomatosis. Oral manifestations are common in MRS. We found a connection between MRS and inflammatory bowel disease, not only Crohn's disease but ulcerative colitis as well.