Donatella Mela

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BACKGROUND Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central(More)
BACKGROUND/AIMS Dorfman-Chanarin syndrome is a very rare condition determined by an autosomal recessive inherited disorder of neutral lipid metabolism. The syndrome is defined by the association of ichthyosiform nonbullous erythroderma, vacuoles in the leukocytes and variable involvement of liver, muscle and central nervous system. Only 19 cases have been(More)
A 50 year old woman was seen for fever and persistent cough, with elevated phlogosis markers and a cavitary lesion at the right upper pulmonary lobe at thoracic CT. Even in the absence of any culture-positive finding, but given the strong suspicion of tubercular disease, the patient was treated with standard antitubercular quadruple therapy for two months(More)
The nocturnal decline of blood pressure (BP) is not observed in autonomic dysfunction (after cardiac transplantation and in patients with diabetic neuropathy) or in patients with atherosclerotic cardiovascular disease. This study evaluated if smoking prematurely alters the blood pressure during the night and if the cumulative risk of hypertension and(More)
Two cases of POEMS and Crow-Fukase syndrome are reported. We focused our attention on the problems recently debated in the literature regarding POEMS and osteosclerotic myeloma, the pathogenetic mechanisms of the clinical symptoms in these syndromes and the problems of their classification among plasma cell dyscrasias with polyneuropathy.
An increasing number of severe invasive Group A streptococcal infections have recently been reported. A new syndrome similar to the staphylococcal toxic shock syndrome, defined "streptococcal toxic shock-like syndrome" is also described. We report a case of streptococcal toxic shock-like syndrome with atypical clinical onset. A 67 years old man was admitted(More)
Correction Following the publication of this article [1], it was clarified that the clinical follow-up of one of CDS family described in the manuscript was performed by Dr. Amalia Sertedaki and Talia Kakourou. The authorship of the article has been changed accordingly. The submitting authors would like to apologise to Amalia Sertedaki and Talia Kakourou for(More)
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