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Hemochromatosis definition: WHAT: Hemochromatosis: Hemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis. WHY: Hemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout. HOW: Hemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy.
Hemochromatosis definition: A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed)
iron storage disorder definition: condition in which there is a deviation or interruption in the storage of iron in the body.
Adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
adrenoleukodystrophy definition: childhood genetic disease, transmitted as an X-linked recessive trait, characterized by diffuse abnormality of cerebral white matter and adrenal atrophy; mental deterioration progresses to dementia, aphasia, apraxia, dysarthria, and loss of vision.
Addison-Schilder syndrome definition: A syndrome combining the characteristics of adrenocortical insufficiency (Addison disease) with those of cerebral sclerosis (Schilder disease). Skin bronzing and sclerosis of the brain and demyelination are the principal manifestations.
bronze medal definition: [1] Bronzemedaille
bronze definition: Airain.
bronze definition: Bronze.
Bronze definition: [1]
braungebrannt definition: [1] von der Sonne gebräunt
Bronzemedaille definition: [1] Siegespreis für den dritten Platz bei einem Wettkampf
Bronzezeit definition: [1] Epoche der Menschheitsgeschichte, in der Metallgegenstände hauptsächlich aus Bronze hergestellt wurden
Bronze definition: Le bronze.
médaille de bronze definition: [1] Bronzemedaille
airain definition: [1] Bronze
noir definition: Couleur, bien qu’en théorie ce soit une absence de couleur : Toutes les longueurs d’ondes visibles sont absorbées dans le cas de la synthèse soustractive (les pigments utilisés, absorbant chacun une longueur d’onde, sont combinés de manière à toutes les absorber) ; ou aucune lumière n’est émise dans le cas de la synthèse additive.
noir definition: Tasse de café sans lait ni crème.
noir definition: Meurtrissure, ecchymose, hématome.
noir definition: Partie ni polie ni blanchie à la lime.
noir definition: Maladie cryptogamique aussi appelée charbon.
noir definition: Nom de diverses teintures, charbons ou poudres noires.
noir definition: Point noir au centre d’une cible.
airain definition: Alliage de différents métaux dont le cuivre est la base.
airain definition: Symbole de la dureté.
airain definition: Objet de ce métal.
excrément definition: Matière fécale ou urine qui sort du corps de l’homme ou des animaux par l’effet d’une évacuation naturelle.
excrément definition: Par mépris, se dit d’un être vil et méprisé..
bronzé definition: Personne mulâtre ou de race noire.
bronzé definition: ''Participe passé masculin singulier du verbe'' bronzer.
edat del bronze definition: [1] Geschichte: die Bronzezeit
bronze definition: Airain.
ocOccitan (post 1500); Provençal
edat del bronze definition: [1] Geschichte: die Bronzezeit
bronze definition: Airain.
bronze definition: Airain.