EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases.

Participation of extracellular Ca(2+) or ghrelin in peptide-mediated contraction of strips from rat urinary bladder.

Many neuropeptides, like angiotensins and vasopressin, are involved in the regulation of urinary bladder contractile activity. They activate the inositol-triphosphate signal pathway and increase intracellular calcium concentration. To determine the effect of ghrelin and extracellular calcium on the amplitude and force of angiotensin and vasopressin-mediated contractions of detrusor, we used strips from urinary bladder of Wistar rats. The obtained preparations were stimulated with Angiotensin II (Ang II) and arginine-vasopressin (AVP), independently and in combination with CaCl(2) or ghrelin. The simultaneous application of peptide and CaCl(2) increased the amplitude and the integral force (AUC) of muscle contraction for both neuropeptides. If ghrelin was applied to the preparation 30min prior to application of Ang II, it prevented the development of typical Ang II-mediated contraction. Ghrelin did not affect the amplitude of AVP-mediated contraction, but significantly lowered its integral force. Our experimental data indicate that the increase of calcium in the extracellular fluid possesses a synergistic effect on the neuropeptide-mediated contraction. The effects of ghrelin on Ang II- and AVP-mediated contractions allow us to express the assumption that the urinary bladder cells probably have ghrelin receptors which do not activate phospholipase C signal pathway.

Immunohistochemical study of an insulinoma.

A typical pancreatic insulinoma is characterized by immunohistochemistry which reflects its histogenesis, morphology and hormonal activity.