Clinical medicine (London, England)
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Systemic amyloidosis comprises an uncommon group of disorders caused by the extracellular deposition of misfolded proteins in various organs. Cardiac amyloid deposition, causing an infiltrative/restrictive cardiomyopathy, is a frequent feature of amyloidosis and a major determinant of survival. ⋯ Most cases of cardiac amyloidosis are of either transthyretin type, which may be acquired in older individuals or inherited in younger patients, or acquired monoclonal immunoglobulin light chain (AL) type. This article aims to review recent developments in diagnosis and management of cardiac amyloidosis.
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Antiepileptic medications, and valproate principally, are commonly prescribed teratogens. There is significant concern that we are not doing enough to educate clinicians and potential parents about the risks of valproate in pregnancy. ⋯ There are significant knowledge gaps regarding the risks to mothers who elect to take another drug, or to mother and baby if she comes off medication entirely. We also should be doing more to reduce rates of sudden unexpected death in epilepsy (SUDEP), which is recognised as a key target when evaluating all maternal deaths.
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Intracerebral haemorrhage causes 1 in 10 strokes, but has the worst overall outcomes of all stroke subtypes. Baseline haematoma volume is a key prognostic factor and early complications - such as haematoma expansion, obstructive hydrocephalus and perihaematomal oedema - may worsen outcome. ⋯ Ongoing research may also provide evidence for new medical treatments and minimally invasive approaches to surgery. Effective implementation of evidence-based care to intracerebral haemorrhage patients can be difficult but quality improvement methodology can help to achieve maximal benefit.
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Alcohol-related liver disease (ARLD) and non-alcoholic fatty liver disease (NAFLD) are leading causes of chronic liver disease globally. Both ARLD and NAFLD are multifactorial and refer to a spectrum of disease severity, ranging from steatosis through steatohepatitis to fibrosis and cirrhosis. Both diseases exhibit substantial inter-patient variation in long-term outcomes and are best considered complex disease traits where genetic and environmental factors interact to mediate disease severity and progression. Here, we briefly review the current literature describing the best validated genetic modifiers that influence severity of these liver conditions, including variants of the genes PNPLA3, TM6SF2 and MBOAT7, which have also been implicated in lipid dysregulation.
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Decompensated cirrhosis is a common reason for admission to the acute medical unit, and such patients typically have complex medical needs and are at high risk of in-hospital death. It is therefore vital that these patients receive appropriate investigations and management as early as possible in their patient journey. ⋯ A 'care bundle' that has been endorsed by the British Society of Gastroenterology is available to help guide the management of patients with decompensated cirrhosis for the first 24 hours and ensure all aspects are addressed. Specific management of complications, such as infections, gastrointestinal bleeding, hepatic encephalopathy and hepatorenal syndrome, are discussed.