Williams syndrome in a preterm infant with phenotype of Alagille syndrome

We report on a preterm infant born at 31 weeks of gestation with a phenotype suggestive of Alagille syndrome, yet microarray analysis identified a deletion on 7q11.23 at the Williams syndrome locus. The infant died on day 18 of life with overwhelming sepsis. This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed.     

Minimum 2-year follow-up of mid-urethral slings, effect on quality of life, incontinence impact and sexual function

Introduction and hypothesis  

In this study, the impact of mid-urethral slings (MUS) on incontinence-related distress, quality of life and sexual function is assessed at a minimum 2 years.     

Endoscopic excision of an eroding calcified mesh sling, 10 years after primary surgery

Management of urethral erosion typically entails two options: sling incision (in the early postoperative period) or excision of the suburethral part of the sling (urethrolysis). This paper describes a different endoscopic technique. A forty-year-old woman with a synthetic sling implanted 10 years prior presented with persistent lower urinary tract symptoms. A kidney ureter bladder X-ray showed a stone at the level of the bladder neck. Disintegration of the stone revealed eroding mesh embedded in the urethral wall. Complete resection of the mesh using an electrocautery knife was performed. Two months since the procedure, the patient has had an uneventful course. Both vaginal and urethral walls are intact, and she is capable of normal voiding with some stress incontinence. Although it is unusual, a sling eroding the urethra is a diagnosis that needs to be considered even 10 years after surgery. Endoscopic management is feasible and can be successful.     

Urethral pressure measurement in stress incontinence: does it help?

Introduction and objectives  The resting urethral pressure profile (UPP), used for the assessment of women with stress incontinence, is routine in many urodynamic units. It is time- and effort-consuming, and its diagnostic value is controversial, as well as its value in the prediction of outcome of anti-incontinence surgery. Herein, we assessed its value in the prediction of the outcome of surgery. Patients and methods  Sixty women were randomized to fascial sling or TVT. Urodynamics were performed preoperatively, 6 months and annually thereafter. After filling and voiding cystometry, resting UPP was performed while sitting. Automated catheter pulling, at a rate of 1 mm/s, was adopted. Averaged readings were obtained. Comparison of maximum urethral closure pressure (MUCP) in success and failure, as well as in sling and TVT, was performed, utilizing ANOVA. Results  Preoperative MUCP and functional urethral length (FUL) were 72.9 ± 27.9 cmH2O and 2.4 ± 0.7 cm. At last follow-up, they were 71.1 ± 20.7 cmH2O and 2.7 ± 0.7 cm, respectively. The differences between sling and TVT as regards value of MUCP and FUL were not significant. The relationship of the outcome of surgery and UPP parameters showed no statistical difference. No significant effect was shown for the success of surgery, duration of follow-up, and interaction of outcome and time over MUCP (P = 0.82, 0.56 and 0.69, respectively) or FUL (P = 0.82, 0.11 and 0.67, respectively). Conclusion  The routine use of resting UPP has no added value in terms of the prediction of success of incontinence surgery. It does not help with follow-up and adds to the time and cost of the examination.     

Modified technique for the surgical treatment of severe tricuspid valve deformity in Ebstein's anomaly

Distortion of septal and atrial anatomy in Ebstein's anomaly places the atrioventricular node and His bundle at risk for injury at operation. We present a novel technique for creating a robust neo-annulus, remote from conduction tissue, adding to the armamentarium of techniques available for the reconstruction or replacement of the tricuspid valve. Three cases are described. All the patients were in sinus rhythm, with competent native or bioprosthetic valves, at short-term follow-up.     

Thoracoscopic splanchnicectomy for pain control in irresectable pancreatic cancer

AIM: Disabling pain for many patients with irresectable pancreatic cancer is poorly managed and can remain a significant problem until death. The aim of this study was to evaluate the safety and efficacy of thoracoscopic splanchnicectomy for pain control in patients with irresectable pancreatic cancer. PATIENTS AND METHODS: Thirteen patients suffering from intractable pain due to irresectable pancreatic cancer underwent 15 attempted thoracoscopic splanchnicectomy procedures. All patients were opiate dependent. Right-sided splanchnicectomy was performed for a dominantly right-sided pain, whereas a centralized, bilateral, or left-sided pain was managed by left splanchnicectomy. If pain recurred, patients were offered to have the procedure repeated on the contralateral side. RESULTS: Thoracoscopic splanchnicectomy procedure was a technical failure because of pleural adhesions in 1 patient. Fourteen (10 left- and 4 right-sided) thoracoscopic splanchnicectomies were successfully completed in 12 patients. Immediate pain relief was achieved in all 12 patients after unilateral thoracoscopic splanchnicectomy. Pain relief persisted until death in 8 patients and until the latest postoperative follow-up visit at 5 months in 1 patient. Two patients required a contralateral procedure for pain recurrence. A 3rd patient had a recurrent pain but refused contralateral intervention. Except for the latter, none of the patients required opioids. CONCLUSION: Thoracoscopic splanchnicectomy is a safe, simple, and effective minimally invasive procedure. It offers a substantial relief of pain in patients with unresectable pancreatic cancer.     

Reconstruction of the female urethra: versatility, complexity and aptness

PURPOSE: Female urethral anomalies, whether congenital or acquired, are rare. Urethral defects are usually if not always associated with variable degrees of incontinence. In this case series we demonstrate the approach in management and surgical outcome of congenital and traumatic urethral anomalies. MATERIALS AND METHODS: The study was conducted on 13 patients with an age range of 2 to 38 years (median 20). Of these patients 4 had female epispadias, 1 had hypospadias, 3 had traumatic urethral loss and 2 had iatrogenic trauma involving the urethra. There were 2 patients with urogenital sinus syndrome and 1 patient had urethral prolapse. RESULTS: After the first stage of repair 4 patients were dry and socially satisfied, and no further intervention was needed. However, in 9 patients a second intervention was necessary to achieve continence. Notably 3 patients empty the bladder through clean intermittent catheterization. CONCLUSIONS: Female urethral defects are usually complex. Congenital causes are associated with severe incontinence. Repair of such defects is challenging, yet 1-stage reconstruction is feasible and potentially successful.