Klinefelter syndrome: an unusual diagnosis in pediatric patients.

Objective: To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group.

Methods: The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at first visit, ratio of arm span to height, pubic hair, gynecomastia, testicular volume, luteinizing hormone (LH), follicle stimulating hormone (FSH), total testosterone (T), and spermiogram.

Effects of long-term cyclic iloprost therapy in systemic sclerosis with Raynaud's phenomenon. A randomized, controlled study.

Objective: Iloprost is a stable prostacyclin analogue which has been shown to be effective in the short-term symptomatic treatment of Raynaud's phenomenon (RP) secondary to systemic sclerosis (SSc). The aim of this study was to evaluate the effects of long-term cyclic therapy with iloprost in comparison with nifedipine on the skin score, pulmonary function and Raynaud's severity score in patients with SSc and RP.

Methods: We conducted a 12-month prospective, randomised, parallel-group, blind-observer trial to compare the effects of intravenously infused iloprost (2 ng/kg/min on 5 consecutive days over a period of 8 hours/day and subsequently for 8 hours on one day every 6 weeks) with those of conventional vasodilating therapy with nifedipine (40 mg/day for os) in 46 patients with SSc and RP.

Increased interferon-gamma (IFN-gamma) levels produced in vitro by alloactivated T lymphocytes in systemic sclerosis and Raynaud's phenomenon.

The aim of the present study was to analyse the in vitro proliferation and cytokine production by alloantigen-stimulated peripheral blood mononuclear cells (PBMC) obtained from patients affected by systemic sclerosis (SSc) and patients with Raynaud's phenomenon (RP). In SSc patients the proliferation of PBMC stimulated in vitro with alloantigens was significantly increased compared with healthy subjects, while no differences were observed for RP patients. Lymphocytes from SSc patients also produced larger amounts of IFN-gamma compared with healthy controls.

Effect of iloprost infusion on the resistance index of renal vessels of patients with systemic sclerosis.

Objective: To investigate the effect of iloprost, a stable prostacycline analog, on kidney blood flow in patients with systemic sclerosis (SSc), using color flow Doppler sonography.

Methods: The acute effect of the drug was studied in 10 patients with SSc with elevated resistance index (RI) levels (all RI values reported are multiplied by 100). Iloprost was administered intravenously (2 ng/kg/min for a period of 8 h).

Anti-thyroid antibodies in Italian scleroderma patients: association of anti-thyroid peroxidase (anti-TPO) antibodies with HLA-DR15.

Objective: To evaluate the frequency of anti-thyroid antibodies in a group of patients with scleroderma (SSc) and to analyze their genetic association with the HLA class II antigens.

Methods: Anti-thyroglobulin (anti-TG) and anti-thyroid peroxidase (anti-TPO) antibodies were measured by hemagglutination techniques. Thyroid function was evaluated by determining the levels of FT3, FT4 and TSH.