Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.

Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs).

Cardiac evaluation of patients with 22q11.2 duplication syndrome.

The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients.

Functional and fixed orthodontics-induced growth of an aplastic condyle in a young patient: a case report.

Condylar aplasia is a condition characterized by the complete lack of a condyle. It is a rare disease, most often associated with more complex syndromes such as Hemifacial Microsomia, Treacher-Collins and Goldenhar. In this article, we present the case of a young female patient (4.

Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: clinical study and review of the literature.

Autoimmune endocrinopathies are characterised by an increased number of peripheral blood lymphocytes (PBL) expressing activation/ memory markers on their surface. The aim of this study was to determine whether a similar finding could be detected in a group of 11 paediatric and young adult patients suffering from autoimmune polyglandular syndrome type 1 (APS1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), as very few data have previously been reported in this field. The control group was made up of 11 sex- and age-matched healthy subjects.

Third-generation assays for hepatitis C antibodies: a four-year study of pattern changes in patients with chronic and past infection.

Background: Many advances have been made in the sensitivity of assays for hepatitis C virus antibodies (HCV-Ab). Nevertheless, polymerase chain reaction (PCR) is still the best method to establish if infection has become chronic. In this study we utilised third-generation assays for HCV-Ab in a four-year follow-up to determine the trend in antibody levels in currently and past infected patients.