[Clinical manifestations and therapeutic perspectives in tuberous sclerosis, a rare multi-organ genetic disease with renal involvement].

Tuberous sclerosis is a rare genetic disease with multiple organ involvement. Renal involvement is manifested by the presence of angiomyolipomas and cysts. Angiomyolipomas due to the progressive increase in size over time can complicate by bleeding that can lead to severe retroperitoneal hemorrhages.

Pattern of complications and burden of disease in patients affected by beta thalassemia major.

Objectives: Despite the correct application of blood transfusions and chelation treatments, beta thalassemia patients have many complications. Systematic population analyses on types and frequency of these complications are very few. The aim of this study is to characterize the complications, their risk factors and their clinical and economic impact.

The Italian multiregional thalassemia registry: Centers characteristics, services, and patients' population.

Objectives: The prognosis of beta-Thalassemia major and other congenital hemoglobinopathies has profoundly changed over the last decades. Moreover, only few countries in Europe provide dedicated services and the description of the measures for patients monitoring and treatment is overall very scarce. The HTA-Thal project is aimed to identify the services available in Italy and to collect epidemiological and clinical data on the thalassemic population (HTA-Thal Registry).

Model-Based Optimisation of Deferoxamine Chelation Therapy.

Purpose: Here we show how a model-based approach may be used to provide further insight into the role of clinical and demographic covariates on the progression of iron overload. The therapeutic effect of deferoxamine is used to illustrate the application of disease modelling as a means to characterising treatment response in individual patients.

Methods: Serum ferritin, demographic characteristics and individual treatment data from clinical routine practice on 27 patients affected by β-thalassaemia major were used for the purposes of this analysis.

The three dermoglandular flap support in reduction mammaplasty.

Background: Bilateral breast reduction is an established procedure performed to relieve the physical pain and psychological discomfort associated with heavy, pendulous breasts. Numerous techniques have been developed over the years with several refinements to obtain safe nipple-areola complex transposition and harmonious breast shape. Based on the experience of the senior author (M.