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by Dr. Mandy Mertz Published 2 years ago Updated 2 years ago
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Ataxia-telangiectasia
Ataxia-telangiectasia
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability.
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(AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems. It is characterized by the presence of: Progressive ataxia (lack of coordination) due to a defect in the cerebellum (the part of the brain involved in coordinating the movement of muscles)

What is the meaning of at?

Definition of at. 3 —used as a function word to indicate that with which one is occupied or employed at work at the controls good at chess 4 —used as a function word to indicate situation in an active or passive state or condition at liberty at rest 5 —used as a function word to indicate the means, cause,...

What is an at sign?

What is an at sign? On the Internet, @ (pronounced "at" or "at sign" or "address sign") is the symbol in an E-mail address that separates the name of the user from the user's Internet address, as in this hypothetical e-mail address example: msmuffet@tuffet.org. In business, @ is a symbol meaning "at" or "each."

What is an at command?

Extended AT-Commands: The extended AT-commands like AT+CSQ, AT+CBC are used to get the status of battery charge and quality of the signal. AT+CMGF Command: This command is used to send an SMS to a precise number. Thus, this is all about AT commands tutorial, which includes what is an AT command,, different types, and its list.

How do you use the word at in a sentence?

(used to indicate occupation or involvement): at work; at play. (used to indicate a state or condition): at ease; at peace. (used to indicate a cause or source): She was annoyed at his stupidity. (used to indicate a method or manner): He spoke at length. (used to indicate relative quality or value): at one's best; at cost.

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How is AT diagnosed?

A diagnosis of ataxia telangiectasia is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic symptoms, and a variety of specialized tests including blood tests, magnetic resonance imaging (MRI), and karyotyping.

How long can you live with ataxia-telangiectasia?

Ataxia telangiectasia is a rare, multiorgan neurodegenerative disorder with enhanced vulnerability to cancer and infection. Median survival in two large cohorts of patients with this disease, one prospective and one retrospective, is 25 and 19 years, with a wide range.

What does ataxia-telangiectasia look like?

Symptoms often begin to show up by age 5, but they can occur later. Symptoms include slurred speech, poor balance, lack of muscle control, and tiny red spider veins in the corners of the eyes or on the ears and cheeks. There is no cure.

How does ataxia-telangiectasia affect the immune system?

People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia ) and cancer of immune system cells (lymphoma ).

What part of the brain is affected by ataxia-telangiectasia?

Ataxia-telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems. It is characterized by the presence of: Progressive ataxia (lack of coordination) due to a defect in the cerebellum (the part of the brain involved in coordinating the movement of muscles)

What are the early signs of ataxia?

Ataxia is a sign of several neurological disorders and can cause:Poor coordination.Walking unsteadily or with the feet set wide apart.Poor balance.Difficulty with fine motor tasks, such as eating, writing or buttoning a shirt.Change in speech.Involuntary back-and-forth eye movements (nystagmus)Difficulty swallowing.

What is Louis Barre syndrome?

Ataxia telangiectasia (Louis-Bar Syndrome) is a rare autosomal recessive condition characterized by cutaneous telangiectasias, cerebellar atrophy with progressive ataxia, and a higher incidence of malignancy, immune deficiency, radiosensitivity, recurrent sinopulmonary infections, and elevated levels of alpha- ...

What is Bloom's syndrome?

Listen to pronunciation. (… SIN-drome) A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer.

Is there a cure for ataxia-telangiectasia?

General Treatment of Ataxia-Telangiectasia. There is no cure for any of the problems associated with A-T. Treatment is supportive but should be proactive.

Can adults develop ataxia-telangiectasia?

Despite slower disease progression, the vast majority of patients first manifest in early childhood, and adult onset remains a rare phenomenon. It has been suggested that mainly the mutation type predicts the clinical course with missense variants leading to a milder phenotype but an increased risk of cancer.

Do you lose weight with ataxia?

Spinocerebellar ataxia has been significantly associated with weight loss and BMI decline due to increases in metabolic demand. The risk of weight loss worsens with disease progression [13].

How do you get ataxia-telangiectasia?

Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.

What is the life expectancy of a person with ataxia?

People with the condition usually live until the age of 19 to 25, although some may live into their 50s.

Is there a cure for ataxia telangiectasia?

General Treatment of Ataxia-Telangiectasia. There is no cure for any of the problems associated with A-T. Treatment is supportive but should be proactive.

How is ataxia telangiectasia treated?

Medical Care. The life span of patients with ataxia-telangiectasia clearly has been prolonged by antibiotic treatment. Prevention of infections by regular injection of immunoglobulins is considered useful. Fetal thymus implants and stimulants of the immunologic system have given inconclusive results.

How common is ATM mutation?

A-T is rare. It is estimated that A-T affects 1 in 40,000 to 1 in 100,000 people. The chance that a person is a carrier of a single ATM gene mutation is about 1%, or 1 in 100.

What does "at" mean in English?

English Language Learners Definition of at. —used to indicate the place where someone or something is. —used to indicate the person or thing toward which an action, motion, or feeling is directed or aimed. —used to indicate something that is being tried or attempted.

What does "don't @ me" mean?

: to respond to, challenge, or disparage the claim or opinion of (someone) —usually used in the phrase don't @ me It goes without saying that Lucille Ball's comedic timing is unmatched—don't @ me, you'll be wrong. — Matt Brennan I'll cut right to the chase: Men should be able to wear makeup, don't at me. — Carine Green

What is AT in computer terms?

AT can be high-tech: special-purpose computers. AT can be hardware: prosthetics, mounting systems, and positioning devices. AT can be computer hardware: special switches, keyboards, and pointing devices. AT can be computer software: screen readers and communication programs.

What is AT in education?

AT can be inclusive or specialized learning materials and curriculum aids. AT can be specialized curricular software. AT can be much more—electronic devices, wheelchairs, walkers, braces, educational software, power lifts, pencil holders, eye-gaze and head trackers, and much more. Assistive technology helps people who have difficulty speaking, ...

What is the ATIA conference?

The ATIA Conference, held annually since 1999, showcases products and services for the assistive technology community—from users to educators to industry and government professionals. In addition, the ATIA sponsors working groups through which its members work to advance industry standards as technology changes, ...

What is an ATIA?

The ATIA is a not-for profit membership organization of manufacturers, sellers, and providers of technology-based assistive devices and services. ATIA members are active in providing assistive technology for the gamut of disabilities: Autism spectrum disorders. Blindness and low vision. Deafness and hard of hearing.

What is an assistive technology?

Assistive technology (AT) is any item, piece of equipment, software program, or product system that is used to increase, maintain, or improve the functional capabilities of persons with disabilities. AT can be low-tech: communication boards made of cardboard or fuzzy felt. AT can be high-tech: special-purpose computers.

What does "at" mean in Arabic?

In Arabic, it is آتْ ( at ). In Armenian, it is շնիկ ( shnik ), which means 'puppy'. In Azerbaijani, it is ət ( at) which means 'meat', though most likely it is a phonetic transliteration of at. In Basque, it is a bildua ('wrapped A'). In Belarusian, it is called сьлімак ( sʹlimak, meaning 'helix' or 'snail').

What is the meaning of "at" in Ukrainian?

In Ukrainian, it is commonly called ет ( et – 'at') or Равлик (ravlyk), which means 'snail'. In Urdu, it is اٹ ( at ). In Vietnamese, it is called a còng ('bent A') in the north and a móc ('hooked A') in the south. In Welsh, it is sometimes known as a malwen or malwoden (both meaning "snail").

What does the symbol "aapstert" mean?

Naming the symbol after animals is also common. In Afrikaans, it is called aapstert, meaning 'monkey tail', similarly to the Dutch use of the word ( aap is the word for 'monkey' or 'ape' in Dutch, stert comes from the Dutch staart ). In Arabic, it is آتْ ( at ). In Armenian, it is շնիկ ( shnik ), which means 'puppy'.

What does the @ symbol mean?

Whatever the origin of the @ symbol, the history of its usage is better known: it has long been used in Catalan, Spanish and Portuguese as an abbreviation of arroba, a unit of weight equivalent to 25 pounds, and derived from the Arabic expression of "the quarter" ( الربع pronounced ar-rubʿ ).

What does the a mean in Danish?

In Danish, it is snabel-a (' elephant 's trunk A'). It is not used for prices, where in Danish a alone means 'at (per piece)'. In Dutch, it is called apenstaart ('monkey's tail'). The a is the first character of the Dutch word aap which means 'monkey' or 'ape'; apen is the plural of aap.

When was the @ symbol invented?

An Italian academic, Giorgio Stabile, claims to have traced the @ symbol to the 16th century, in a mercantile document sent by Florentine Francesco Lapi from Seville to Rome on May 4, 1536. The document is about commerce with Pizarro, in particular the price of an @ of wine in Peru.

Where is the @ symbol?

Held today in the Vatican Apostolic Library, it features the @ symbol in place of the capital letter alpha "Α" in the word Amen. Why it was used in this context is still a mystery.

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Overview

The at sign, @, is normally read aloud as "at"; it is also commonly called the at symbol, commercial at, or address sign. It is used as an accounting and invoice abbreviation meaning "at a rate of" (e.g. 7 widgets @ £2 per widget = £14), but it is now seen more widely in email addresses and social media platform handles.
The absence of a single English word for the symbol has prompted some writers to use the Fren…

History

The earliest yet discovered symbol in this shape is found in a Bulgarian translation of a Greek chronicle written by Constantinos Manasses in 1345. Held today in the Vatican Apostolic Library, it features the @ symbol in place of the capital letter alpha "Α" as an initial in the word Amen; however, the reason behind it being used in this context is still unknown. The evolution of the symbol as use…

Modern use

In contemporary English usage, @ is a commercial symbol, meaning at and at the rate of or at the price of. It has rarely been used in financial ledgers, and is not used in standard typography.
In 2012, "@" was registered as a trademark with the German Patent and Trade Mark Office. A cancellation request was filed in 2013, and the cancellation wa…

Names in other languages

In many languages other than English, although most typewriters included the symbol, the use of @ was less common before email became widespread in the mid-1990s. Consequently, it is often perceived in those languages as denoting "the Internet", computerization, or modernization in general. Naming the symbol after animals is also common.

See also

• ASCII
• Circle-A
• Enclosed A (Ⓐ, ⓐ)
• Unicode

External links

• commercial-at at the Free On-line Dictionary of Computing
• "The Accidental History of the @ Symbol ", Smithsonian magazine, September 2012, Retrieved October 2021.
• The @-symbol, part 1, intermission, part 2, addenda, Shady Characters ⌂ The secret life of punctuation August 2011, Retrieved June 2013.

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