Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age.

This case report presents a detailed exploration of an adult-onset 22q11 deletion syndrome, a rare genetic disorder typically diagnosed in children. The report highlights the diagnostic challenges posed by this atypical presentation, emphasizing the need for clinicians to consider such conditions in differential diagnoses, especially in adults. This case is remarkable for its late onset and mild symptoms, which significantly deviated from the common pediatric presentation, including hypocalcemia due to hypoparathyroidism and a fenestrated atrial septal defect without significant hemodynamic implications.

[MicroRNAs and their neuroimmunoregulator mechanisms in multiple sclerosis. Development of biomarkers for diagnosis].

Introduction: MicroRNAs (miRNAs) are molecules that in the last decade have gained increased attention a key mediator of the process of gene silencing in mammals. Deregulation of miRNAs is linked to illnesses such as cancer, and autoimmunity. Different reports claim for these molecules pivotal roles in both neuronal and immune processes, as well as in prediction of diseases affecting both systems.

Severe consequences of carbamazepine exposure in utero.

The 'foetal carbamazepine syndrome' is characterised by facial dysmorphism associated to cardiovascular, nervous system, urinary tract and skeletal anomalies. The authors present the case of a neonate born to a 33-year-old epileptic woman treated with long term carbamazepine (CMZ) therapy. Four of her pregnancies exposed to the drug showed bad outcomes.