Postgraduate medical journal
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Review
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.
Hereditary haemorrhagic telangiectasia (HHT) affects one in 5-8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inherited as an autosomal dominant trait and there is no age cut off when apparently unaffected offspring of an individual with HHT can be told they are unaffected. This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.
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Recent studies have highlighted the close link between activation of the coagulation system and the inflammatory response in the pathophysiology of severe sepsis. The protein C anticoagulant pathway plays an integral part in modulating the coagulation and inflammatory responses to infection. ⋯ Since its approval, several questions have been raised regarding the appropriate use of this agent. Given the increased risk of serious bleeding and the high cost of treatment, drotrecogin alfa (activated) should be reserved at this time for the most acutely ill patients with severe sepsis who meet the criteria that were used in the phase 3 trial.
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The Department of Health had recently introduced guidelines so that all suspected colorectal cancer patients could be seen by a specialist within two weeks of referral by their general practitioners. The usefulness and practicality of such a decision had been questioned. The aims of this study were to measure the compliance to the guidelines and evaluate the effectiveness of such referrals. ⋯ This audit showed that compliance to the guidelines was associated with a higher cancer detection rate. The majority of patients received appointments within two weeks. Contrary to some speculations, the number of referrals was not limitless. However a high number of referrals failed to adhere to the guidelines. The cancer (particularly early cancer) detection rate was disappointingly low. This does not reflect an efficient system of referral and potential benefits to patients remain questionable.
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A 69 year old man living in Spain contracted mucocutaneous leishmaniasis involving the nose. The infecting organism was Leishmania infantum, which only rarely causes the New World form of the disease. The source of infection was probably a neighbour's dog. The patient began treatment with liposomal amphotericin B but died of pneumonia two months later.
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Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. ⋯ Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies.