Serial voiding urosonography in posterior urethral valve diagnosis and management in pediatric patients.

Objectives: Report our experience with the use of contrast-enhanced serial voiding urosonography (SVU) for posterior urethral valve (PUV) patient diagnosis and management.

Material And Methods: Descriptive retrospective study in 0- to 14-year-old patients with suspected PUV at SVU performed as a first contrast-enhanced urinary tract test with subsequent cystoscopic study. Variables were analyzed using SPSSv22.

[Video-urodynamic evaluation with cystosonography for the study of lower urinary tract dysfunction and other uropathies in children].

Objectives: To assess the utility of a new modality of video-urodynamic for study of lower urinary tract dysfunction and other uropathies in kids, replacing voiding cystourethrography by echo-enhanced cystosonography, without ionizing radiations.

Material And Methods: Prospective study with simultaneous performance of filling cystometry and cystosonography in 43 kids during the last two years. The sonographic contrast was infused trough the urodynamic catheter.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.

[Our experience in retroperitoneoscopic total or partial nephrectomies].

The retroperitoneal laparoscopic approach is displacing open surgery and transperitoneal approach for several benign renal conditions. In the past 6 years we have performed 20 procedures, 10 with lateral position and 10 with posterior prone one: 13 total nephrectomies and 7 heminephrectomies in children aged 4,1 years on average. Mean operative time was 200 minutes in partial procedures and 278 in the total ones.

[Utility of urine levels of interleukins in the diagnosis of vesicoureteral reflux: a case-control study in children].

Unlabelled: Invasive imaging methods that require catheterization are used for the diagnosis of vesicoureteral reflux. Our aim is to assess the usefulness of interleukin urinary levels for the diagnosis of reflux in children without urinary tract infection.

Methods: Case-control study in children who underwent a voiding cystourethrogram: forty cases diagnosed of reflux and 80 controls.

[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome].

The partial trisomy 4q is a strange chromosomal illness. This illness is caused by the duplication of a portion of chromosome 4. In most of the cases, it is the result of a balanced translocation in one of the progenitors.

[Megacalycosis diagnosed during the study of antenatal hydronephrosis].

We describe a case of megacalycosis in a newborn female with a probable antenatal ultrasonographic diagnosis of left multicystic dysplastic kidney. Uroradiology, ultrasonography and nuclear medicine studies were performed and diagnosis was established by excretory urogram. We have found only one previously published case of megacalycosis in which diagnosis was made during the postnatal study of antenatal hydronephrosis.

[Intravesical knot of Foley catheter: unusual complication of cystourethrography in children].

We report a rare complication of knotting of the urethral catheter inside the urinary bladder of a 3 month old boy who was referred for voiding cystourethrogram. After unsuccessful attempts to remove the catheter, the baby was admitted to surgery. The catheter was removed under anesthesia after gentle but sustained traction.

[Phenotype heterogeneity in Gitelman's syndrome].

A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis criteria of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated.