CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.

We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.

Bilateral orchidopexies: synchronous or metachronous? Survey of BAPS and BAPU members and single-centre comparison.

Background/aim: Approximately 20% of undescended testes (UDT) are bilateral. It is unclear whether bilateral orchidopexy (BO) should be undertaken synchronously (SBO) or metachronously (MBO). Our aim was to investigate current UK practice and the complications of SBO vs MBO.

Cystoscopic-assisted laparoscopic excision of prostatic utricle.

We present a video of our technique for resection of a large prostatic utricle (PU) in a patient who presented initially with disordered sexual development. His karyotype was 46XY, and phenotypically had penoscrotal hypospadias, bifid scrotum, and retractile right testis. An initial micturating cystourethrogram (MCUG) demonstrated the utricle but failed to cannulate the bladder.

Laparoscopic-assisted retroperitoneal nephrectomy in autosomal recessive polycystic kidney disease.

Objective: Autosomal recessive polycystic kidney disease (ARPKD) occurs in 1 in 20 000 live births. A mortality rate of 30-40% is reported, generally relating to pulmonary hypoplasia, and 60% require renal replacement therapy (RRT) by 10 years. In the neonatal period, the large kidneys can cause significant mass effect, with the need for prolonged respiratory support and difficulty in establishing feeds.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Background And Objectives: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort.

Isolated preputial reconstruction in distal hypospadias.

Objective: The aim of this single centre study was to determine: a) the outcome of isolated preputial reconstruction in distal hypospadias and b) overall parental satisfaction.

Methods: A retrospective analysis of case notes was performed to determine outcome. Postal parent-satisfaction questionnaires were devised to quantify subjective assessment of care and outcome.

Colostomy for treatment of functional constipation in children: a preliminary report.

Objectives: Surgery is indicated in very few children with intractable functional constipation. A number of operations have been described with unpredictable outcome and significant morbidity. The authors present a series of 10 children who underwent a Hartmann procedure with end colostomy formation.

Analysis of the effects of endothelin-3 on the development of neural crest cells in the embryonic mouse gut.

Background/purpose: Mutations in the endothelin-3 (ET-3) and endothelin-B receptor (EDNR-B) genes cause terminal colonic aganglionosis in mice and are linked to Hirschsprung's disease. These experiments are designed to determine if the development of terminal enteric ganglia depends on changes in proliferation, apoptosis, or differentiation of enteric neural crest (NC) cells in response to ET-3.

Methods: Gut from embryonic lethal-spotted mice (lacking ET-3) and controls were investigated in vivo.

Localization and endothelin-3 dependence of stem cells of the enteric nervous system in the embryonic colon.

Background/purpose: The aganglionosis in a variable length of the distal gut found in Hirschsprung's disease results from the abnormal prenatal development of neural crest-derived stem cells of the enteric nervous system. The cytokine endothelin-3 is necessary for successful colonization of the distal gut, but the location of this interaction with neural crest-derived stem cells remains to be established. The hypothesis tested here is that the stem cells of the enteric nervous system (ENS) in the colon are located at the leading edge of the migrating wave of neural crest-derived stem cells and that these cells require colonic endothelin-3 for complete colonization of the gut.