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Porphyria

The porphyrias are a group of disorders where there is a problem with the production of haem within the body. Haem is used to make haemoglobin in red blood cells. There are seven different types of porphyria and in most cases they are inherited (run in families). In each type, there is a lack of one of the enzymes (special proteins) which controls one of the steps in haem synthesis (the making of haem). This means that substances that are made during the process leading up to haem synthesis (including porphyrins) are overproduced and can build up within the body and cause symptoms. It is important that the type of porphyria that you have should be identified. This is because they can have different symptoms and effects on the body. Symptoms vary greatly and can include abdominal pain, nervous system problems, mental health problems and skin problems. You may need to avoid certain things such as certain drugs or alcohol that may ‘trigger’ an attack of porphyria.

The full article about Porphyrias can be found at patient.co.uk.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Paraneoplastic Antibodies

Purkinje cell antibodies, Neuronal antibodies

A family of autoantibodies recognising antigens in the brain which are associated with a variety of neurological manifestations occurring as a result of malignancy, usually ovarian or small cell carcinoma of the lung. The autantibodies may also recognise the tumour. Patients present with paraneoplastic cerebellar degeneration usually triggering a search for a previously unsuspected malignancy.There are several groups of autantibodies.

To read the full information, visit http://southtees.nhs.uk/services/pathology/tests/paraneoplastic-antibodies-anti-huyo-ri-ma/.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Lumbar Puncture (NHS)

A lumbar puncture is a medical procedure where a needle is inserted into the lower part of the spine to look for evidence of conditions affecting the brain, spinal cord or other parts of the nervous system. 

http://www.nhs.uk/conditions/lumbar-puncture/Pages/Introduction.aspx

This NHS site explains spinal taps, also known as a lumbar puncture.

 

 

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Brown-Vialetto-Van Laere Syndrome

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological condition affecting infants, children and young adults. It affects the body’s nervous system.

 

 

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Neuromyotonia

Neuromyotonia (NMT), also known as Isaacs’ Syndrome, is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. – Wikipedia

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Opsoclonus

Opsoclonus refers to uncontrolled eye movement. Opsoclonus consists of rapid, involuntary, multivectorial (horizontal and vertical), unpredictable, conjugate fast eye movements without intersaccadic intervals. It is also referred to as saccadomania or reflexive saccade. The movements of opsoclonus may have a very small amplitude, appearing as tiny deviations from primary position. – Wikipedia

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Erythrocyte Sedimentation Rate (ESR)

ESR stands for erythrocyte sedimentation rate. It is commonly called a “sed rate.”

More information about how an ESR test is performed and what the results may mean can be found at MedLinePlus.

 

Copyright 1997-2015, A.D.A.M., Inc.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Encephalitis

Encephalitis is irritation and swelling (inflammation) of the brain, most often due to infections.

The full text of the New York Times page on Encephalitis can be found at their website, www.nytimes.com.

 

Copyright © NY Times | Review Date August 1st, 2012 | Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Acute Disseminated Encephalomyelitis

What is Acute Disseminated Encephalomyelitis?

Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but widespread attack of inflammation in the brain and spinal cord that damages myelin – the protective covering of nerve fibers.  ADEM often follows viral or bacterial infections, or less often, vaccination for measles, mumps, or rubella.  The symptoms of ADEM appear rapidly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in the most severe cases, seizures and coma.

– NINDS.NIH.GOV

The full text describing ADEM, it’s symptoms, and treatement can be found at http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm.

Copyright © The National Institute of Neurological Disorders and Stroke Last updated February 14, 2014

 

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This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Tietze Syndrome

Tietze syndrome is a benign inflammation of one or more of the costal cartilages. It was first described in 1921 by the German surgeon Alexander Tietze (1864–1927). Though thought to be the same conditions, Tietze syndrome is not the same as costochondritis.

Wikipedia 

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.