Publications by authors named "Sofia Miguelote"

Whipple's disease (WD) is a rare, multisystemic chronic disease caused by Gram-positive bacteria . Transmission usually occurs by the fecal-oral route, as the bacillus has been identified in stagnant water, human feces, and soil. This disorder not only causes malabsorption in the gastrointestinal tract but also has cardiovascular, neurological, ophthalmic, and musculoskeletal effects.

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Background: Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found.

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