Salvatore Sanfilippo

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We have studied the prevalence of the fra (X) and of the autosomal fragile sites fra (10) (q25) and fra (16) (q22) in patients from an institute for the mentally retarded in Italy. We found six cases (1.9%) of fra (10) (q25) and 9 (2.9%) of fra (16) (q22). The study of the fra (X) was restricted to a subgroup of 91 males who did not have other chromosome(More)
Thirty-eight patients with unilateral high myopia ranging from 5 to 19 diopters were followed up for a median of two years. All were treated with full-spectacle correction and most had occlusion. When initially examined one patient (3%) had visual acuity of 6/12 (20/40) or better, four patients (12%) had central fusion, and 24 patients (63%) were phoric. At(More)
The IVIC syndrome derives its name from the Instituto Venezolano de Investigaciones Cientìficas, where it was described by Arias et al. [Am J Med Genet 6:25-59, 1980]. We report on several individuals in a family with the IVIC syndrome, the second described in the literature. In this family there are 3 affected individuals in 2 generations. This observation(More)
A clinical and EEG study of 12 fragile-X syndrome subjects (six with epilepsy) is presented. All subjects had clinical-family history examinations, EEG evaluations, and karyotyping. Spikes were present in the sleep EEG of one nonepileptic and four epileptic subjects: these spikes were similar in location, occurrence, voltage, frequency, and morphology (and(More)
In this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin-Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the(More)
We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X)(More)
Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that(More)
The advantages of transmucosal healing implants with a bioactive zirconia collar as a support for partially fixed prosthodontic restorations are optimal peri-implant marginal tissue sealing, reduction in plaque accumulation and satisfactory aesthetic results. The zirconia used in this study evidenced not only optimal clinical performances, but also good(More)