Nature Reviews Disease Primers
@DiseasePrimers
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Nature Reviews Disease Primers publishes Primers - introductory reviews on diseases and disorders - across all medical specialties. Check back each week!
Joined October 2014
Several other treatments for glycogen storage diseases are in development. Clinical trials are currently evaluating the use of adeno-associated virus (AAV)-mediated gene therapy in GSD Ia and Pompe disease. #GlycogenStorageDiseases #medsky
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The lamellar unit is a fundamental structural and functional unit of the thoracic aortic wall, consisting of a concentric arrangement of vascular smooth muscle cells, elastin, collagen and proteoglycans.
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Surgical procedures for thoracic aortic aneurysm include total arch replacement via the frozen elephant technique, hemiarch replacement, and valve-sparing aortic root replacement.
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Risk factors for chronic kidney disease can be differentiated into those that increase nephron workload and those that reduce their capacity. Preterm birth can result in lifelong reduced kidney capacity. #CKD
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RT @DiseasePrimers: New online! Hereditary haemorrhagic telangiectasia #HereditaryHaemorrhagicTelangiectasia https:….
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RT @DiseasePrimers: New online! Hereditary haemorrhagic telangiectasia #HereditaryHaemorrhagicTelangiectasia https:….
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New online: Hereditary haemorrhagic telangiectasia - PrimeView.
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New online: Hereditary haemorrhagic telangiectasia - Primer.
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Guillain–Barré syndrome is an acute immune-mediated polyneuropathy that can occur after infections or, rarely, other events. Most mechanistic knowledge has been gathered in disease triggered by Campylobacter jejuni infection.
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Tumour lysis syndrome (TLS) is an oncologic emergency characterized by extensive tumour cell breakdown, rapid release of intracellular contents into the circulation. TLS can lead to acute kidney injury, seizures, multiorgan failure and death.
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The pathophysiology of Guillain–Barré syndrome is not completely understood but predominantly starts with an infection that triggers an immune response in susceptible patients, which leads to damage of peripheral nerves.
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Data on the incidence of Guillain–Barré syndrome are mostly derived from high-income countries and indicate an annual global incidence of 1–2 per 100,000 persons per year.
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In a nerve entrapment disorder such as #carpal tunnel syndrome, several events take place in the nerve locally with subsequent effects both distal in the target and proximal at the spinal cord and in the dorsal root ganglion.
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Guillain–Barré syndrome usually presents with paraesthesia, pain or limb weakness. Its disease course typically comprises an initial progressive phase, followed by a plateau and recovery phase.
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Multiple system atrophy (MSA) is a rare synucleinopathy that affects the nigrostriatal system, pons, cerebellum, inferior olives, brainstem and spinal cord. Clinical manifestations of MSA include autonomic failure, parkinsonism and ataxia.
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The clinical presentations and disease course of Guillain–Barré syndrome are highly variable: the motor-sensory phenotype is most common, but other forms without sensory deficits and mixed forms can also occur.
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