Psychological (mental) shock
You often hear people saying that someone's in shock (lazy tabloid journalists and TV soap writers are particularly fond of this phrase), but what does this really mean? Physiological (circulatory) shock Blood loss Cardiogenic shock Shock can ... [... more]
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Joubert syndrome
Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain. Normally the cerebellum (an area at the back of the brain which plays an important part in the control of ... [... more]
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Phenylketonuria
Phenylketonuria (PKU) is an inherited enzyme deficiency that, if not detected early, can result in brain damage. The enzyme phenylalanine hydroxylase normally converts an amino acid called phenylalanine (which is present in food proteins) into ... [... more]
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Kawasaki disease
Kawasaki disease is a rare condition in which prolonged fever is associated with damage to the heart and blood vessels. First observed in Japan in the 1960s, it's also known as mucocutaneous lymph node syndrome. The symptoms and signs of Kawasaki ... [... more]
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Creutzfeldt-Jakob disease
CJD hit the headlines because of the appearance of a new variant of CJD in young people that may be linked with cattle infected with Bovine Spongiform Encephalitis (BSE). CJD may have been passed to humans through infected beef products CJD may ... [... more]
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Cornelia de Lange syndrome
A guide to Cornelia de Lange Syndrome, facts about the condition and where to go for support There's still much to learn about this rare condition, which can cause a range of mild to severe symptoms. We look at its effects, the possible causes ... [... more]
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X-linked Agammaglobulinaemia
X-linked agammaglobulinaemia - also known as XLA or Bruton's sex-linked agammaglobulinaemia - is an inherited problem that affects the immune system. X-linked agammaglobulinaemia occurs when the body can't make gamma globulin, the chemical that ... [... more]
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Costello syndrome
A guide to Costello syndrome, its symptoms, treatments and where to get support There have only been 150 reported cases of this rare inherited disorder, but more may have gone unrecognised. We look at the symptoms and possible causes. Costello ... [... more]
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Rett syndrome
People with Rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout their lives. There is currently no cure. Rett Syndrome is a complex neurological disorder, genetic in origin and ... [... more]
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Reyes syndrome
Reye's syndrome was first described in 1963 by an Australian pathologist called R. Douglas Reye. It's a very rare illness. In the year 2000 there were only three cases reported in the UK and Ireland. Reye's syndrome is a rare illness that affects ... [... more]
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Pemphigoid and pemphigus
Pemphigoid and pemphigus are autoimmune diseases causing the skin to blister. Neither can be cured and both are very rare. On the surface they may appear similar but they are two different diseases. In autoimmune diseases the body perceives part ... [... more]
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Turner's syndrome
Turner's syndrome affects girls and women, and occurs when one of the two X chromosomes normally found in females is missing or incomplete. The syndrome is named after Dr Henry Turner. At birth, a girl with Turner's syndrome may have some or all ... [... more]
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