Clin Med
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The myeloproliferative neoplasms that are associated with the JAK2 mutation are a heterogeneous group of disorders. The additional mutations that result in the clinical phenotype are still the subject of research. ⋯ Although new drugs are being developed, treatment at present is predominantly with agents that have been in use for many years. An understanding of the need to control the thrombotic risk has, however, led to improved survival rates such that ET and PV can be seen as chronic diseases.
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The NHS, yet again, is in transition with an emphasis on groups of general practitioners (GPs) (clinical commissioning groups) making decisions on which specialist services should be chosen for patients requiring referral from primary care. It is an area of new terminology with a new language and further change for all working in the NHS and the all-important interface between primary and secondary care, and its impact on teamwork. There are many drivers including choice, efficiency, franchising of services, coordination and leadership in an enormous organisation, but not least reducing costs and keeping to a budget. There are many logistical issues and ethical anxieties, and only time will inform patients, practitioners, stakeholders and politicians as to its success.
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The misdiagnosis of MND (particularly of the ALS phenotype), is uncommon. Atypical presentations, particularly of focal onset and with pure LMN or UMN signs, present a more difficult diagnostic challenge, although perhaps reassuringly, treatable mimics are rare. A working knowledge of potential alternative conditions and MND diagnostic pitfalls should help to reduce the misdiagnosis rate, particularly if the key points are considered.