Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births.

Copeptin as a novel biomarker in nocturnal enuresis.

Objective: To investigate the relation between copeptin, arginine vasopressin (AVP), and nocturnal enuresis (NE).

Methods: Forty-four patients with NE and 44 healthy children aged between 6 and 14 years were enrolled. Patients with nonmonosymptomatic and secondary NE were excluded from the study.