Manuela Marsili

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BACKGROUND Autoimmune sensorineural hearing loss, also known as autoimmune inner ear disease (AIED) is a rare clinical entity characterized by progressive and bilateral sensorineural hearing loss often accompanied by vestibular symptoms. Diagnosis is essential as a consistent number of patients show a positive response to steroids alone or in association(More)
Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder, caused by the absence or reduced expression of the beta-2 integrins on granulocytes, and characterized by the inability of these cells to emigrate from the bloodstream towards the sites of tissue inflammation. A twelve-year-old girl with a diagnosis of LAD-1 syndrome and(More)
An unusual case of monolateral vitelline dystrophy is reported. The EOG, which at first was normal in both eyes, successively became abnormal in the affected eye and subnormal in the apparently healthy eye. The value and the actual limits of the EOG are discussed to allow a better understanding of the origin and pathogenesis of the disease.
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