Lancet
-
Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy. ⋯ Ionis Pharmaceuticals, Inc and Biogen.
-
Over the past several decades, the incidence of bacterial meningitis in children has decreased but there remains a significant burden of disease in adults, with a mortality of up to 30%. Although the pathogenesis of bacterial meningitis is not completely understood, knowledge of bacterial invasion and entry into the CNS is improving. Clinical features alone cannot determine whether meningitis is present and analysis of cerebrospinal fluid is essential for diagnosis. ⋯ Even with appropriate antimicrobial therapy, mortality is high and so attention has focused on adjunctive therapies; adjunctive corticosteroids are beneficial in certain circumstances. Any further improvements in outcome are likely to come from either modulation of the host response or novel approaches to therapy, rather than new antibiotics. Ultimately, the best hope to reduce the disease burden is with broadly protective vaccines.
-
South Africa and other areas of sub-Saharan Africa have in the past 20 years undergone rapid demographical changes, largely due to urbanisation and changes in lifestyle. This rapid change has led to a marked increase in specific cardiac conditions, such as hypertensive heart disease and coronary artery disease (with the highest prevalence in the middle-aged population), in conjunction with a range of other heart diseases, which are historically common in Africa-eg, rheumatic heart disease, cardiomyopathies, and unoperated congenital heart disease. The short supply of well-equipped screening facilities, late diagnosis, and inadequate care at primary, secondary, and tertiary levels have led to a large burden of patients with poorly treated heart failure. ⋯ Subsequently, a network of cardiologists was formed under the umbrella of the Heart of Africa Studies and the Pan African Cardiac Society. Furthermore, I summarise the major gaps in the health-care system dealing with the colliding epidemic of communicable and non-communicable heart diseases, including cardiac diseases common in peripartum women. I also touch on the fantastic opportunities available for doing meaningful research with enthusiastic colleagues and, thereby, having a large effect, despite the need to be highly innovative in finding much needed funding support.
-
Deep vein thrombosis and pulmonary embolism, collectively referred to as venous thromboembolism, constitute a major global burden of disease. The diagnostic work-up of suspected deep vein thrombosis or pulmonary embolism includes the sequential application of a clinical decision rule and D-dimer testing. Imaging and anticoagulation can be safely withheld in patients who are unlikely to have venous thromboembolism and have a normal D-dimer. ⋯ Use of thrombolysis should be limited to pulmonary embolism associated with haemodynamic instability. Anticoagulant treatment should be continued for at least 3 months to prevent early recurrences. When venous thromboembolism is unprovoked or secondary to persistent risk factors, extended treatment beyond this period should be considered when the risk of recurrence outweighs the risk of major bleeding.