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,Hyperammonaemia Knowledge Centre

Hyperammonaemia (inherited or acquired) is a metabolic disturbance characterised by an excess of ammonia in the blood and can have wide-ranging effects on metabolic, neurological and gastrointestinal systems.

The Hyperammonaemia Knowledge Centre has been developed to raise awareness of this rare yet potentially deadly condition. Using this resource, healthcare professionals are encouraged to recognise the signs and symptoms of hyperammonaemia and begin the correct treatment immediately.

Content in this resource is divided into the following sections:

  • Disease Awareness (epidemiology, pathophysiology, signs & symptoms, etc.)
  • First-line Treatment (including information on drug characteristics, clinical efficacy and safety/tolerability)
  • Video Channel
  • Resources
 

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Clinical Case Studies

Brain Abscess

Infection: Central Nervous System Infection

Christine Peters, Specialist Registrar in Medical Microbiology, Southern General Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK

Case History
A normally fit and well 31-year-old man presented to the emergency department with a severe headache of nine days duration. He had a Glasgow Coma Scale (GCS) of 15, expressive dysphasia and a mild right facial weakness, but was apyrexial and normotensive.

HSV Encephalitis

Infection: Central Nervous System Infection

Christopher Duncan, Research Fellow, Sir William Dunn School of Pathology, University of Oxford, Oxford, UK

Case History
A 46-year-old female presented to the emergency department with a five-day history of headache and fever associated with progressive confusion, behavioural disturbance and drowsiness. On examination the Glasgow Coma Scale (GCS) was 12/15 and she was febrile.

Latest News

Medical Videos

An Overview of Brain Surgery and the Current Understanding of Brain Function
An Overview of Brain Surgery and the Current Understanding of Brain Function
Does chronic venous insufficiency play a role in MS pathogenesis? Commentary (CONy 2010)
Does chronic venous insufficiency play a role in MS pathogenesis? Commentary (CONy 2010)

Recent Drug Updates

Medical Journal Abstracts on Neurological Disorders

Neuropsychiatric safety and efficacy of varenicline, bupropion, and nicotine patch in smokers with and without psychiatric disorders (EAGLES): a double-blind, randomised, placebo-controlled clinical trial.

8 days ago -  Neuropsychiatric safety and efficacy of varenicline, bupropion, and nicotine patch in smokers with and without psychiatric disorders (EAGLES): a double-blind, randomised, placebo-controlled clinical trial.

Background: Substantial concerns have been raised about the neuropsychiatric safety of the smoking cessation medications varenicline and bupropion. Their efficacy relative to nicotine patch largely ...

Clinical effectiveness and safety of powered exoskeleton-assisted walking in patients with spinal cord injury: systematic review with meta-analysis.

Tue 22 Mar 2016 -  Clinical effectiveness and safety of powered exoskeleton-assisted walking in patients with spinal cord injury: systematic review with meta-analysis.

Background: Powered exoskeletons are designed to safely facilitate ambulation in patients with spinal cord injury (SCI). We conducted the first meta-analysis of the available published research on ...

Medical Images

Diffuse hyperintensity signal
Diffuse hyperintensity signal
Cerebral asperglioma on T1-weighted cerebral MRI
Cerebral asperglioma on T1-weighted cerebral MRI
T1-weighted transverse cranial MRI
T1-weighted transverse cranial MRI
MRI of the lumbarsacral spine
MRI of the lumbarsacral spine
Large cerebral tuberculoma on MRI
Large cerebral tuberculoma on MRI
Cerebral cryptococcosis
Cerebral cryptococcosis
PML from a brain biopsy specimen
PML from a brain biopsy specimen
Contrast enhanced MRI head
Contrast enhanced MRI head
Ring-enhancing lesion (arrow) in the middle of moderate peri-lesional cerebral oedema
Ring-enhancing lesion (arrow) in the middle of moderate peri-lesional cerebral oedema
Un-enhanced CT head
Un-enhanced CT head

Clinical Guidelines

Spinal injury: assessment and initial management

Feb 2016

This guideline covers the assessment and early management of spinal column and spinal cord injury..

... in pre-hospital settings (including ambulance services), emergency departments and major trauma centres. It covers traumatic injuries to the spine but does not cover spinal injury caused by a disease.It aims to reduce death and disability by improving the quality of emergency and urgent care.

This guideline includes recommendations on:
  - initial triage and management by pre-hospital care staff
  - clinical assessment and management at the emergency department
  - acute stage imaging
  - communication with tertiary services
  - information and support needs of patients and their families and carers
  - documentation

European Stroke Organisation (ESO) guidelines for the management of temperature in patients with acute ischemic stroke

Jul 2015

Hyperthermia is a frequent complication in up to 50% of patients with acute ischemic stroke, and it..

... was shown to be associated with a poor outcome. On the other end, therapeutically induced hypothermia has shown promising potential in patients with hypoxic encephalopathy and in animal models of focal cerebral ischemia. This document presents the ESO guidelines on temperature management in patients with acute ischemic stroke. The aim of this Guideline document is to assist physicians treating patients with acute ischemic stroke in their clinical decisions with regard to the management of temperature.

Clinical Trials

Sodium Oxybate for Treatment of Excessive Daytime Sleepiness and Cataplexy in Narcolepsy

-61 days ago

The purpose of this study is to determine whether aFT218 is safe and effective for the treatment of excessive daytime sleepiness and cataplexy in subjects with ...

Pembrolizumab Plus Bevacizumab for Treatment of Brain Metastases in Metastatic Melanoma or Non-small Cell Lung Cancer

today

The purpose of this phase 2 trial is to study the activity of pembrolizumab in combination with bevacizumab in patients with untreated brain metastases from melanoma or NSCLC to determine activity ...

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