Marta Vila Real

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A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases.(More)
 Disclosure of the diagnosis of cancer to the patients affected has always been a controversial issue in the doctor–patient relationship. Undoubtedly this is so not only because of differences between countries and cultures, but also because there have been changes of opinion over the years. The aim of this study was to evaluate the quality and quantity of(More)
INTRODUCTION Neuropathy is a frequent complication of diabetes mellitus (DM), increasing with the duration of the disease, poor glycemic control and advanced age. Acute presentation of a neuropathy in the setting of a newly diagnosed type 1 DM is rare and holds a diagnostic challenge. CASE REPORT A 10-year-old girl, presented at the emergency service with(More)
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