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Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development.It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP).
Cerebrospinal fluid specimen stained with Perls Prussian blue showing iron containing macrophage (stained blue) surrounded by erythrocytes (stained red). In histology, histopathology, and clinical pathology, Perls Prussian blue is a commonly used method to detect the presence of iron in tissue or cell samples.
Iron tests are groups of clinical chemistry laboratory blood tests that are used to evaluate body iron stores or the iron level in blood serum. Other terms used for the same tests are iron panel , iron profile , iron indices , iron status or iron studies .
Eye color outside of the iris may also be symptomatic of disease. Yellowing of the sclera (the "whites of the eyes") is associated with jaundice, [82] and may be symptomatic of liver diseases such as cirrhosis or hepatitis. [83] A blue coloration of the sclera may also be symptomatic of disease. [82]
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 ...
A slit lamp exam allows a detailed inspection of the conjunctiva and sclera and improves the detection of globe injury. Slit lamp exam findings like decreased anterior chamber depth or damage to posterior chamber structures indicate open-globe injury. [3] A seidel test detects more subtle or partially self-sealing open-globe injuries.
Iron-deficiency anemia may give symptoms that can include spoon-shaped nails, restless legs syndrome, and pica (the medical condition indicates the desire for things that are not food, such as ice, dirt, etc.). [29] A blue coloration of the sclera may be noticed in some cases of iron-deficiency anemia. [30]
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