A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.

A rare disease, also known as an orphan disease, is a health condition that affects fewer than 200,000 people in the United States or fewer than 1 in 2,000 people in Europe. There are over 7,000 rare diseases identified, and many of them are severe, chronic, and often life-threatening. The causes of rare diseases can be genetic, infectious, environmental, or degenerative. Due to their rarity, research on rare diseases is often underfunded, and treatments may not be available or well-studied. Additionally, the diagnosis of rare diseases can be challenging due to a lack of awareness and understanding among healthcare professionals.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

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Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19. View ... Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 ... Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 ... Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 ...
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The study validates our analytic approach to rare missense substitutions and provides a method to combine data from prote … ... This study shows that CHEK2 harbors many rare sequence variants that confer increased risk of breast cancer and that a ... Publication types * Research Support, N.I.H., Extramural * Research Support, Non-U.S. Govt ... Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast ...
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Viazov S, Widell A, Nordenfelt E. Mixed infection with two types of hepatitis C virus is probably a rare event. Infection. 2000 ... Viazov, S., Widell, A., & Nordenfelt, E. (2000). Mixed infection with two types of hepatitis C virus is probably a rare event. ... Mixed infection with two types of hepatitis C virus is probably a rare event. / Viazov, S; Widell, Anders; Nordenfelt, E. In: ... Viazov, S ; Widell, Anders ; Nordenfelt, E. / Mixed infection with two types of hepatitis C virus is probably a rare event. In ...
... we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in ... Publication types * Research Support, N.I.H., Extramural * Research Support, Non-U.S. Govt ... A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration Nat Genet. 2013 ... Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in ...

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