Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations. Remarkably, the RPL5 c.

[Phakomatosis: anatomo-clinical expressions of urological interest].

Up to date etiopathogenetic knowledge of phakomatoses allows a more rational classification as compared to the known ones, based on anatomopathological and/or clinical features. Some genes have been identified, which are correlated with neurofibromatoses, tuberous sclerosis and other conditions, through general biologic mechanisms (derivatives of the embryonic neural crest; nerve growth factor and its receptor; oncogenes and antioncogenes, etc.).

[New findings regarding neuroreceptors in the lower urinary tract].

In the field of the neuroreceptors of the lower urinary tract, knowledge is being increased by some recent experimental findings, such as muscarinic subtypes, adrenergic and serotoninergic selective receptors. Moreover, the role of peptidergic receptors (VIP, CGRP, TKs, SP, ecc.; neuropeptide release from peripheral endings of capsaicin-sensitive nerves) has been suggested and investigations are in progress.

[Central and peripheral neuromodulation of ejaculation. An updating contribution].

Some recent results of both experimental and clinical researches have brought to the attention the role of new neurotransmitters and neuroreceptors involved in the process of seminal ejaculation. In the central neurochemical system (neurotransmitters and neurohormones), besides the known monoamines, several aminoacids, peptides, steroids, kinins, PGs--some of which produced by the glia--have been recently evidenced. Among the peripheral receptors, besides the muscarinic and adrenergic ones, some neuropeptidic (VIP, Neuropeptide Y, endogenous opioids, etc.