Glossary of terms used on this site

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Abscess

An abscess is a collection of pus which can occur in almost any part of the body, treated with antibiotics and drainage.

Absences

Briefly losing awareness of surroundings, possibly several times a day. Absences mainly affect children but can occur in adults.

Achondroplasia

Achondroplasia is a disorder of bone growth, whereby the cartilage fails to convert into bone, particularly in the long bones of the arms and legs. All people with achondroplasia have short stature. It is inherited in an autosomal dominant pattern.

Adenoma

A non-cancerous tumour.

ADHD

A behaviour disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.

Adrenoleukodystrophy

(ALD) X-linked adrenoleukodystrophy is a disorder that occurs most often in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. People with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. They may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex). This hormonal deficiency is known as adrenocortical insufficiency.

There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a type called Addison disease only.

Adrenoleukodystrophy (ALD)

X-linked adrenoleukodystrophy is a disorder that occurs most often in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney.

Ajmaline test

(provocation test) You may be asked to have this test if your doctor suspects Brugada Syndrome. While you are having an ECG test you will be given an injection of ajmaline or flecainide (antiarrhythmic drugs). The test may show changes on the ECG that are typical of one of the channelopathies.

Alkaptonuria

An inherited condition that causes urine to turn black when exposed to air. Ochronosis, a build-up of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People with alkaptonuria typically develop arthritis in adulthood, particularly in the spine and large joints.

Alkaptonuria is caused by changes in the HDG gene which makes an enzyme that helps break down the amino acids phenylalanine and tyrosine. Alkaptonuria is inherited in an autosomal recessive pattern.

Alleles

Alternative forms of a gene at the same locus (position on a chromosome)

Alternative medicine

Complementary medicines and treatments include a wide range of treatments that are not usually used by most doctors in the UK. These treatments are sometimes described as alternative medicine.

Amnio

Abbreviated form of the term amniocentesis. A procedure whereby a needle is introduced through the abdominal wall and into the pregnant uterus to obtain amniotic fluid. The procedure is most commonly used to obtain fetal cells to examine the fetal chromosomes or occasionally fetal DNA. The procedure is usually carried out at 16 weeks gestation

Amniocentesis

A procedure whereby  a needle is introduced through the abdominal wall and into the pregnant uterus to obtain amniotic fluid.  The procedure is most commonly used to obtain fetal cells to examine the fetal chromosomes or occasionally fetal DNA.  The procedure is usually carried out at 16 weeks gestation.

Amnioreduction

Occasionally pregnancies are complicated by excess amniotic fluid or polyhydramnios. This can be diagnosed by ultrasound. In most cases the excess fluid does not harm the baby, but as the uterus (womb) is often much larger than it would otherwise be, the woman may be at increased risk of premature labour, which depending on the gestation carries risks to the baby when it is born. In certain circumstances to try and reduce this risk amnioreduction or removal of amniotic fluid can be performed.

Ampullary

The ampullary is a small muscle located at the junction where the bile duct (carrying bile from the liver and secretions from the pancreas) empties into the duodenum (upper small intestine).

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