PrimeViews in 2017

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  • Rickets is a bone disease that is associated with low serum calcium and/or phosphate levels, primarily leading to widening and delayed mineralization of growth plates. The prevalence of rickets has decreased substantially compared with 200 years ago, but the disorder is re-emerging.

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  • Chronic constipation is a prevalent condition characterized by hard stools, excessive straining, infrequent bowel movements, bloating and abdominal pain. This PrimeView focuses on the different types of primary chronic constipation, which include normal-transit constipation, rectal evacuation disorders and slow-transit constipation.

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  • This PrimeViews focuses on the metabolism of low-density lipoprotein (LDL) cholesterol and illustrates how, in familial hypercholesterolaemia, genetic mutations result in the insufficient removal of LDL cholesterol from the circulation.

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  • Rabies has a mortality close to 100%. Thus, prevention is essential; this PrimeView illustrates the available approaches, which focus on stopping the transmission of rabies virus from dogs to humans (via dog vaccination campaigns) and preventing symptoms onset (via post-exposure prophylaxis).

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  • Chronic kidney disease is caused by numerous possible contributing factors that result in the loss of functional nephrons. This PrimeView highlights some of the key features of this increasingly common condition.

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  • Hepatitis E virus infection is the most common cause of acute viral hepatitis worldwide. The virus spreads through the food chain via infected animals or drinking water contaminated with human faeces, but iatrogenic transmission is also possible.

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  • Rotaviruses are one of the leading causes of diarrhoeal diseases in children <5 years of age. This PrimeView focuses on the prevention of Rotavirus infection, for which, vaccination is crucial.

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  • Functional dyspepsia is a common functional gastrointestinal disorder that is characterized by discomfort or pain in the upper abdomen with no apparent organic cause. This PrimeView summarizes the contributing factors, which are multifactorial.

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  • This PrimeView accompanies the Primer on Merkel cell carcinoma by Becker and colleagues and focuses on the mechanisms that underlie the pathogenesis of this rare but highly metastatic cutaneous cancer.

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  • Idiopathic pulmonary fibrosis is a chronic, progressive and irreversible interstitial lung disease that is characterized by fibrotic scarring of the lung parenchyma. This PrimeView summarizes the potential mechanisms underlying the condition.

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  • Syphilis is a sexually and vertically transmitted infection caused by the spirochaete Treponema pallidum. This PrimeView highlights the importance of screening in pregnant women to eliminate mother-to-child transmission, which causes several hundred thousand stillbirths and neonatal deaths every year.

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  • The symptoms of amyotrophic lateral sclerosis (ALS) include signs of upper motor neuron and lower motor neuron dysfunction. These symptoms, and the diagnostic work-up for ALS, are the main focus of this PrimeView, which accompanies the Primer by Hardiman and colleagues.

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  • In most cases, fragile X syndrome is caused by a trinucleotide repeat expansion in FMR1, which results in loss of expression of its gene product, fragile X mental retardation 1 protein (FMRP). This PrimeView focuses on the consequences of FMRP loss, including deficits in synpatic plasticity.

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  • Severe childhood malnutrition develops as a consequence of several social, economic and political factors. These factors are highlighted in this illustrated PrimeView, which accompanies the Primer by Bhutta et al.

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  • Snakebite envenoming is a neglected tropical disease that affects 1.8–2.7 million people worldwide, especially in impoverished areas of the warmer tropics and subtropics. Clinical manifestations vary from local tissue damage to life-threatening systemic effects and chronic disability, such as amputation.

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  • Chronic pancreatitis is attributed to alcohol abuse in the majority of cases. Tobacco smoking is an independent risk factor; other causes include genetic factors, metabolic disorders, chronic obstructive causes (for example, ductal stones), autoimmunity and idiopathic mechanisms.

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  • Hypoparathyroidism is characterized by hypocalcaemia and inadequately low circulating levels of parathyroid hormone. This PrimeView focuses on the different causes of this rare condition, which include damage or inadvertent removal of the parathyroid gland during neck surgery and genetic, idiopathic and autoimmune aetiologies.

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  • This illustrated PrimeView accompanies the Primer on Heart failure with reduced ejection fraction by Butler and colleagues, and focuses on the diagnosis and staging of heart failure, which is crucial for the management of patients.

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  • Osteogenesis imperfecta — also known as brittle bone disease — is a phenotypically and genotypically heterogeneous group of inherited bone dysplasias. This PrimeView illustrates the key mechanisms involved.

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  • Malaria can be effectively prevented: this PrimeView highlights the roles of vector control approaches (the use of insecticides and physical barriers, such as bed nets) and chemoprevention (with mass administration of antimalarial drugs) in reducing disease burden.

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