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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

Fever and Ventriculoperitoneal Shunt

Infection: Central Nervous System Infection

Sarah Whitehead, Consultant in Medical Microbiology, Southern General Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK

Case History
A previously well 51-year-old woman underwent neurosurgery for a subarachnoid haemorrhage. Recovery was complicated by hydrocephalus, necessitating insertion of an external ventricular drain.

Pneumococcal Meningitis

Infection: Central Nervous System Infection

R. Andrew Seaton, MBChB, MD, DTM&H, FRCP (Edinburgh & Glasgow), Consultant in Infectious Diseases and General Medicine, Honorary Senior Lecturer, University of Glasgow, Brownlee Centre for Infectious Diseases and Tropical Medicine, Gartnavel General Hospital, Glasgow, UK

Case History
A 65-year-old lady was admitted to the emergency department having been found unconscious, febrile and incontinent of urine.

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

The role of autologous stem cell transplantation in primary CNS lymphoma.

7 days ago -  The role of autologous stem cell transplantation in primary CNS lymphoma.

Primary CNS lymphoma (PCNSL) treatment includes two phases: induction and consolidation. Induction consists of high-dose-methotrexate-based polychemotherapy for most patients, with regimen and dose ...

Prevalence and Characteristics of Central Nervous System Involvement by Chronic Lymphocytic Leukemia.

Wed 27 Jan 2016 -  Prevalence and Characteristics of Central Nervous System Involvement by Chronic Lymphocytic Leukemia.

A broad array of conditions can lead to neurologic symptoms in chronic lymphocytic leukemia patients and distinguishing between clinically significant involvement of the central nervous system by ...

Medical Images

Contrast enhanced MRI head
Contrast enhanced MRI head
T1 transverse MR image from a white male who presented with increasing confusion
T1  transverse MR image from a white male who presented with increasing confusion
Circumscribed right frontal lobe ring-enhancing lesion
Circumscribed right frontal lobe ring-enhancing lesion
MRI of male who presented with right arm partialcomplex seizures
MRI of male who presented with right arm partialcomplex seizures
MRI of the lumbarsacral spine
MRI of the lumbarsacral spine
T1-weighted transverse cranial MRI
T1-weighted transverse cranial MRI
Cerebral asperglioma on T1-weighted cerebral MRI
Cerebral asperglioma on T1-weighted cerebral MRI
CT head with contrast, shows oedema, enhancement of tuberculoma increased
 CT head with contrast, shows oedema, enhancement of tuberculoma increased
Cerebral tuberculoma with a paradoxical reaction in HIV
Cerebral tuberculoma with a paradoxical reaction in HIV
Diffuse hyperintensity signal
Diffuse hyperintensity signal

Clinical Guidelines

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.

Diagnosis and management of epilepsy in adults

May 2015

This guideline provides recommendations based on current evidence for best practice in the..

... diagnosis and management of epilepsy in adults. It does not include patients with a non-epileptic attack disorder.

Online CME

Overview: Managing Migraine in Adults

In "Management of Migraine in Adults" physicians will learn to apply evidence-based approaches in the diagnosis and management of migraine headache and compare current approach to treatment at the state...

Common speech and language disorders in adults: an overview

After completing this module you should know: what the common disorders of speech and language in adults are, in particular, aphasia (dysphasia), dysarthria, and apraxia (dyspraxia), what the fundamental differences...

Dementia with Lewy bodies: a guide to diagnosis and treatment

After completing this module you should: know the clinical criteria for diagnosing dementia with Lewy bodies, be able to develop an approach to treating patients with dementia with Lewy bodies,...

Clinical Trials

Conservative Iron Chelation as a Disease-modifying Strategy in Parkinson's Disease (FAIRPARKII)

7 days ago

This study evaluates the effect of iron chelation as a therapeutic strategy to slow the progression of Parkinson's disease. Half of participants will receive the deferiprone to 15 mg / kg twice ...

Study of Nivolumab Versus Temozolomide, Given With Radiation Therapy, for Newly-diagnosed Patients With Glioblastoma (GBM, a Malignant Brain Cancer) (CheckMate 498)

Fri 01 Jan 2016

The main purpose of this study is to compare how long patients with glioblastoma (GBM, a malignant brain cancer) live after receiving nivolumab every two weeks in addition to radiation therapy (RT), ...

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