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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
AL amyloidosis is caused by the deposition of abnormal antibody free light chains. The abnormal light chains are produced by monoclonal plasma cells, and, although AL amyloidosis can occur without diagnosis of another disorder, it is often associated with other plasma cell disorders, such as multiple myeloma and Waldenström's macroglobulinemia. [6]
A CT scan image showing a ruptured abdominal aortic aneurysm. CT Scan of 11 cm Wilms' tumor of right kidney in 13-month-old patient. Computed tomography of the abdomen and pelvis is an application of computed tomography (CT) and is a sensitive method for diagnosis of abdominal diseases. It is used frequently to determine stage of cancer and to ...
Blood in stool looks different depending on how early it enters the digestive tract—and thus how much digestive action it has been exposed to—and how much there is. The term can refer either to melena, with a black appearance, typically originating from upper gastrointestinal bleeding; or to hematochezia, with a red color, typically originating from lower gastrointestinal bleeding. [6]
31.5 per 100,000 (men), 26.1 per 100,000 (women) [85] Pulmonary alveolar proteinosis: Lungs Anti-GM-CSF antibodies Confirmed 6.2 per million [86] Rheumatoid lung disease: Lungs Rheumatoid factor, Anti-CCP antibodies Confirmed Part of RA prevalence (about 1%) [87] Sarcoidosis: Lungs and other organs None specific Confirmed 10 - 40 per 100,000 [88]
They generally occur in endocrine organs (e.g. thyroid, parathyroid, and adrenals), but may also occur in endocrine tissues of organs not classically thought of as endocrine. [2] MEN2 is a sub-type of MEN (multiple endocrine neoplasia) and itself has sub-types, as discussed below. Variants in MEN2A have been associated with Hirschsprung disease.
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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...