New mutations of Darier disease in Tunisian patients.

Darier's disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead). Pathogenic mutations in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase (SERCA) 2 gene underlie the disease. In the present study, we performed genetic investigation of three unrelated Tunisian families affected by DD.

Modulation of natural killer (NK) receptors on NK (CD3-/CD56+), T (CD3+/CD56-) and NKT-like (CD3+/CD56+) cells after heart transplantation.

Background: After undergoing heart transplantation and the subsequent compulsive immunosuppressive treatments, patients are at risk of rejection episodes, infectious complications or cancer development. Thus, it is probable that the various subsets of peripheral cytotoxic lymphocytes are modulated in such patients. This area of study can now be investigated by examining the numerous recently described natural killer (NK)-cell-related surface receptors.

[Coronary-pulmonary arterial fistula in the adult: report of 6 cases and review of the literature].

Six new patients and 33 previously reported with coronary-to-pulmonary artery fistula were reviewed. The mean age at the time of diagnosis was 51 years. A male predominance was found (65%).

[Immediate and mid-term results of balloon valvuloplasty in congenital aortic stenosis. Ten case reports].

From 1987 to 2000, 10 patients aged 0.5 to 20 years with congenital valvular aortic stenosis underwent percutaneous balloon aortic valvuloplasty. In one patient, balloon valvuloplasty was unsuccessful, this patient had acute artery thrombosis requiring surgical intervention.