نتایج جستجو برای: carney complex
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Every time we detect a part that is out of tolerance, the implication is that something went wrong in the machining process: either the operator made a mistake, or the machine tool did. A lot of the time, problems with the machine get blamed on the operator. Rather than expect the operator to compensate for every machine tool problem -at the expense of increased setup time and scrap -it makes m...
Myxoma cordis is a rare disorder. Up to 1951, 128 cases were known in the literature (Mahaim, Prichart) . It has long been a subject of controversy whether these formations were to be regarded as organized thrombi or as tumours, but now they are considered as tumours. The myxomas are the most frequently occurring primary tumours of the heart, viz., about 50 per cent. In 50 per cent of cases the...
The Carney complex (CNC) is a dominantly inherited syndrome responsible mainly for spotty skin pigmentation (lentiginosis), endocrine overactivity, and cardiac myxomas. Adrenocorticotropic hormone independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is a main characteristic of CNC. PPNAD is a very rare cause of Cushing's syndrome due to a primary bilate...
Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1alpha gene encoding the R1alpha regulatory subunit of...
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemi...
Introduction Carney complex (CNC) is a disorder characterized by skin pigmentary abnormalities and benign cardiac,endocrine, skin and neuronal tumors. Areas of unusual lentigines are the most common presenting feature of CNC usually around the lips, eyes or genitalia increase in number at puberty. Cardiac myxomas may occur in any or all cardiac chambers, and leading to intracardiac obstruction ...
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