A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

Background: The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocentesis.

Interstitial cells and phasic activity in the isolated mouse bladder.

Objective: To describe the distribution of interstitial cells (ICs, defined as cells which show an increase in cGMP in response to nitric oxide, NO) in the isolated mouse bladder, and changes in phasic contractile activity after exposure to a NO donor.

Materials And Methods: The whole bladder was removed from 17 female mice, killed by cervical dislocation. For immunohistochemistry (six mice) the bladder was incubated in carboxygenated Krebs' solution at 36 degrees C, containing 1 mm of the phosphodiesterase inhibitor isobutyl-methyl-xanthine.

Location of interstitial cells and neurotransmitters in the mouse bladder.

Introduction: To investigate whether interstitial cells (ICs) are present in the adult mouse bladder, and what transmitters characterize adjacent nerve fibres, as ICs in human and guinea-pig bladder lie close to nerve fibres but transmitters present in these nerves have not yet been reported.

Materials And Methods: Sections of the bladder wall from 12 adult male mice (six each, aged 3-4 or 18-24 months) were incubated in carboxygenated Krebs' solution containing isobutyl-methyl-xanthene (1 mm), followed by the nitric oxide (NO) donor diethylamino-NONOate; control tissues remained in Krebs' solution. Samples were fixed in 4% paraformaldehyde and processed for immunofluorescence histochemistry for cGMP, neuronal NO synthase (nNOS), vesicular acetylcholine transferase (VAChT), calcitonin gene-related polypeptide (CGRP) and protein gene product (PGP) 9.

Bladder volume alters cholinergic responses of the isolated whole mouse bladder.

Purpose: The isolated bladder expresses autonomous activity, which may contribute to the generation of lower urinary tract sensation or pathophysiology. We evaluated how the effect of a cholinergic agonist on autonomous activity alters with increasing volume and in the presence of substances known to modulate functional bladder capacity.

Materials And Methods: The bladder of 22 adult female C57 black mice were mounted in whole organ tissue baths.

Volume-induced effects on the isolated bladder: a possible local reflex.

Objectives: To: (i) determine the effects of changing intravesical volume on autonomous activity in the isolated whole bladder of the guinea pig; (ii) identify the mechanisms which might contribute to induced changes; and (iii) explore the idea that changes in bladder volume which affect phasic activity are part of a local reflex operating within the bladder wall.

Materials And Methods: Bladders were isolated from female guinea pigs, cannulated via the urethra and maintained in vitro in Tyrode's solution. The intravesical pressure (IVP) was monitored and drugs added to the bathing solution.