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The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
A bone scan or bone scintigraphy / s ɪ n ˈ t ɪ ɡ r ə f i / is a nuclear medicine imaging technique used to help diagnose and assess different bone diseases. These include cancer of the bone or metastasis, location of bone inflammation and fractures (that may not be visible in traditional X-ray images), and bone infection (osteomyelitis). [1]
DXA is only able to provide the areal bone mineral density. High-resolution peripheral quantitative computed tomography (HR-pQCT) is better than DXA at detecting bone microarchitecture, modeling whole-bone geometry using 3-dimensional information from scans. This method allows estimation of bone strength and other mechanical properties. [20]
A skeletal survey (also called a bone survey [1]) is a series of X-rays of all the bones in the body, or at least the axial skeleton and the large cortical bones. A very common use is the diagnosis of multiple myeloma , where tumour deposits appear as "punched-out" lesions.
A unicameral bone cyst, also known as a simple bone cyst, is a cavity filled with a yellow-colored fluid. [ 1 ] [ 3 ] It is considered to be benign since it does not spread beyond the bone. [ 4 ] Unicameral bone cysts can be classified into two categories: active and latent. [ 4 ]
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DXA scans can also be used to measure total body composition and fat content with a high degree of accuracy comparable to hydrostatic weighing with a few important caveats. [18] [specify] From the DXA scans, a low resolution "fat shadow" image can also be generated, which gives an overall impression of fat distribution throughout the body. [19]
As OI type I may be difficult to detect in a newborn child, the cord blood of the child can be tested to determine if it has been passed on if the family has already rejected the more invasive genetic screening methods. [1]: 247 In more severe cases, the diagnosis may be able to be done via ultrasound, especially if OI is already a possibility.