13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms.

A new clinical and dermoscopic monitoring of infantile hemangiomas treated with oral propranolol.

Oral propranolol (OP) demonstrated high efficacy and safety profile for treatment of critical infantile hemangiomas (IHs). Our aim was to assess the morphologic changes of IHs with standard and high-resolution video dermoscopy (HRVD) from baseline to 18 months either in presence or absence of OP therapy; to investigate if extended anamnestic perinatal data and clinical-dermoscopic characteristics of the IHs can correlate with therapeutic outcome. We enrolled 94 patients (112 IHs): 58 were treated with OP, 35 (42 IHs) for 6 months (group 1), and 23 (25 IHs) for 12-months (group 2); 36 (45 IHs) were followed-up.

MRI helps depict clinically undetectable risk factors in advanced stage retinoblastomas.

This study compared high-resolution MRI with histology in advanced stage retinoblastomas in which ophthalmoscopy and ultrasonography did not give an exhaustive depiction of the tumour and/or its extension. MRI of orbits and head in 28 retinoblastoma patients (28 eyes) treated with primary enucleation were evaluated. Iris neoangiogenesis, infiltrations of optic nerve, choroid, anterior segment and sclera suspected at MR and histology were compared.

Abnormalities of the thyroid in survivors of childhood Hodgkin's disease.

Aim: The progress made in the treatment of Hodgkin's disease (HD) has resulted in long-term survival rates >90%, therefore late sequelae of treatment, especially endocrine diseases, have become more important. Hypothyroidism is the most frequent thyroid disease but hyperthyroidism, thyroid nodules and cancer are also frequent. Thyroid cancer begins to appear 5-10 years after neck irradiation and risk persists for decades.

Successful treatment of macular retinoblastoma with superselective ophthalmic artery infusion of melphalan.

Purpose: To report our experience with superselective ophthalmic artery infusion of melphalan (SOAIM) for macular retinoblastoma to obtain tumor control while preserving as much useful vision as possible.

Methods: Five patients with newly diagnosed unilateral retinoblastoma involving the macula were selected within a group of patients eligible for SOAIM as the primary treatment.

Results: The mean tumor basal dimension and thickness in this group of five patients with macular retinoblastoma were 11.

Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments.

Purpose: To report our experience in superselective ophthalmic artery infusion of melphalan (SOAIM) for intraocular retinoblastoma.

Methods:   From June 2008 to October 2010, 38 patients (18 women, 20 men; age range at first treatment, 7 months to 22 years) with 41 eyes with retinoblastoma were scheduled for SOAIM, for 17 newly diagnosed retinoblastomas Tumour, Node and Metastasis (TNM) 7th Edition 1a (n = 1), 1b (n = 1), 2a (n = 7), 2b (n = 4) and 3a (n = 4) and 24 retinoblastomas with partial remission/relapse TNM 7th Edition 1b (n = 13), 2a (n = 1) and 2b (n = 10). Eight patients (ten eyes) have been treated by SOAIM alone.