Tangier disease
Tangier Disease
Tangier disease (== Template:IPA ==
The Template:IPA (International Phonetic Alphabet) is a system of phonetic notation based primarily on the Latin alphabet. It was devised by the International Phonetic Association in the late 19th century as a standardized representation of the sounds of spoken language.
Pronunciation
The pronunciation of the term "IPA" is /aɪ piː eɪ/ in English.
Etymology
The term "IPA" is an acronym for the International Phonetic Alphabet. The International Phonetic Association, founded in 1886, created the IPA to provide a single, universal system for the transcription of spoken language.
Related Terms
- Phonetic notation: A system used to visually represent the sounds of speech. The IPA is one type of phonetic notation.
- Phonetics: The study of the physical sounds of human speech. It is concerned with the physical properties of speech sounds (phonemes), and the processes of their physiological production, auditory reception, and neurophysiological perception.
- Phonology: The study of the way sounds function within a particular language or languages. While phonetics concerns the physical production, acoustic transmission and perception of the sounds of speech, phonology describes the way sounds function within a particular language or languages.
- Transcription (linguistics): The systematic representation of spoken language in written form. The source of the words transcribe and transcription, the term means "to write across" in Latin, and it's the process of converting spoken language into written form. In linguistics, this is often done using the IPA.
External links
- Medical encyclopedia article on Tangier disease
- Wikipedia's article - Tangier disease
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski), also known as Familial Alpha-lipoprotein Deficiency is a rare inherited genetic disorder that is characterized by significantly reduced levels of high-density lipoprotein (HDL) cholesterol, often referred to as "good cholesterol", in the blood.
Etymology
The disease is named after the island of Tangier, located in the Chesapeake Bay, Virginia, where it was first identified in two siblings in the 1960s.
Symptoms
Symptoms of Tangier disease include neuropathy, cardiovascular disease, and an enlarged, orange-colored tonsil. The disease can also cause other health problems such as hepatosplenomegaly (enlarged liver and spleen), and peripheral neuropathy.
Causes
Tangier disease is caused by mutations in the ABCA1 gene. This gene provides instructions for producing a protein that is involved in the transport of cholesterol and phospholipids from cells to the blood. Mutations in the ABCA1 gene disrupt this process, leading to the accumulation of cholesterol and phospholipids in the body's tissues.
Diagnosis
Diagnosis of Tangier disease is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as blood tests to measure the levels of HDL cholesterol. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for Tangier disease. Treatment is symptomatic and supportive, and may include medication to manage symptoms, physical therapy for neuropathy, and regular monitoring of heart health.
Related Terms
External links
- Medical encyclopedia article on Tangier disease
- Wikipedia's article - Tangier disease
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski