The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.

Role of lasertripsy in the management of ureteral calculi: experience with alexandrite laser system in 232 patients.

In 232 patients with ureteral stones, lasertripsy was used as primary treatment or as second-line therapy after extracorporeal shockwave lithotripsy (SWL). In all patients, a semirigid 6.5F ureteroscope or a flexible 6F ureteroscope was used. Lithotripsy was performed employing an alexandrite laser with an energy of 50 to 65 mJ. The immediate success rate was 67.5% for stones in the upper ureter, 86.1% for those in the midureter, and 94.5% for those in the distal ureter. In 16.5% of the treatments, it was necessary to insert a double-J stent. A perforation of the ureter happened in two patients (0.9%), but no laser-related complications were seen. Stone fragmentation was not dependent on stone composition or size. Using small semirigid or flexible ureteroscopes, lasertripsy of ureteral stones is a minimally invasive treatment with an insignificant complication rate. In case of midureteral stones, our results revealed a higher immediate stone-free rate than is reported in the literature after treatment by SWL, and we can therefore recommend lasertripsy as primary treatment. For upper ureteral stones, lasertripsy can be recommended as a helpful auxillary procedure. Furthermore, in cases of distal ureteral stones, lasertripsy challenges SWL as the primary treatment.

Early detection of infected ureteral obstruction after SWL employing C-reactive protein.

Infection of the obstructed upper urinary tract is a severe complication of stone disease. Early detection and therapy is crucial to prevent septicemia. The authors investigated prospectively whether C-reactive protein (CRP) might act as a marker for the early detection of infected upper urinary tract obstruction. The serum concentration of CRP was compared with the classic markers of inflammation--white blood cell (WBC) count, erythrocyte sedimentation rate (ESR), and temperature--in the follow-up of 85 patients undergoing 173 extracorporeal shockwave lithotripsy (SWL) treatments. Post-SWL, 69% of the patients showed dilation of the upper tract on ultrasonography and 16.5% became symptomatic and required intervention. In this group, the mean CRP value was increased 18-fold, whereas the WBC count, ESR, and temperature were not markedly raised. In contrast, patients with no need for additional treatment showed no more than a 2-fold increase in CRP. C-Reactive protein seems to be a useful indicator for the early detection of infected upper urinary tract obstruction.

[Visual laser ablation of the prostate--a prospective study]. / Visuelle Laserablation der Prostata (VLAP)--eine prospektive Studie.

Since february 1993 90 patients with BPH were treated with VLAP. Preoperatively determined parameters, WHO Prostate Symptom Score, uroflow, residual urine and obstruction grade were reevaluated 3, 6 and 9 months after operation. After dividing the whole collective into two groups (prostate size < 50 ml, prostate size > 50 ml), we could conclude, that VLAP in smaller prostate glands is similarly effective as transurethral resection, but in larger glands by obstructive symptoms can be improved by VLAP without removing the urodynamically proved obstruction.

[Problems of reception in a guidance center]. / Problématique de l'accueil dans un centre de guidance

The aim of this communication is not to criticise the work of guidance, but to analyse its efficiency and validity in order to formulate concrete proposals. One can distinguish three periods in the evolution of the work in a guidance center. In the first period, it is a methodological concern which presided to this type of work. In the second period, one thought that there was to many preliminary investigations and it was decided to take the child in treatment more rapidly. During the third period, the attention has primarily be centered on the child's problems. The author suggests some solutions. He considers it is necessary to abandon the multidisciplinary approach. He advises to always consider one case at the time within a therapeutic and diagnostic frame. Therapy has to be conducted by one person, even if this person has to treat the whole family.

In situ extracorporeal shockwave lithotripsy of distal ureteral stones: parameters for therapeutic success.

Between January and December 1989, 123 patients with distal ureteral stones were treated with in situ extracorporeal shockwave lithotripsy (ESWL) using a modified HM3 Dornier lithotriptor. One hundred and three patients (83.7%) were stone-free, 20 patients (16.3%) had small residual stones (< 1 mm2) that passed spontaneously. In situ ESWL treatment alone was successful in 88 of the 103 stone-free patients (85.4%). Fifty-six (54.4%) needed 1 ESWL session, 26 (25.2%) needed 2 ESWL sessions. Nineteen of the 123 patients (15.4%) needed auxiliary endourological measures. The results of ESWL treatment were correlated to pretherapeutically identified parameters such as stone size, radiopacity, outer contour, shape, inner structure, biochemical analysis of the stones and grade of dilatation of the upper urinary tract. The results prove that size (> or = 75 mm2), radiopacity and grade of dilatation have a direct correlation to the difficulty to disintegrate ureteral stones.

Second in situ extracorporeal shock wave lithotripsy in not disintegrated ureteral stones is preferred to retrograde manipulation.

In this study we tried to determine the optimal treatment of upper ureteral stones which are not disintegrated by the first extracorporeal shock wave lithotripsy (ESWL) and to analyze the cost-benefit ratio of retrograde manipulation into the renal pelvis. 180 patients with an upper ureteral stone were treated by ESWL in situ. 40 patients needed a retreatment and were randomized for retrograde manipulation before ESWL or ESWL in situ without a prior manipulation. In both the in situ group and in the push-and-smash group, the stone-free rate was 75%. In stones < 8 mm, the disintegration rate was higher after retrograde manipulation into the renal pelvis and inserting a DJ catheter. In conclusion, ESWL in situ is the optimal treatment for all patients with upper ureteral stones. We reserve retrograde manipulation before a second ESWL for stones < 8 mm. Routinely employed auxiliary procedures such as placement of a DJ catheter increase the costs significantly, without improving the results.

Visual laser ablation of the prostate (VLAP): an effective alternative treatment of benign prostatic hyperplasia.

A total of 75 patients suffering from benign prostatic hyperplasia (BHP) were treated with visual laser ablation of the prostate (VLAP) using the Nd-Yag laser. Preoperative evaluation consisted in determination of urinary flow and residual urine, assessment of voiding symptoms and urodynamic evaluation. Postoperatively, the same evaluation was performed at 3 and at 6 months. VLAP is a relatively simple technique with a low perioperative morbidity and short time results are comparable to classical transurethral resection of the prostate. Therefore VLAP seems to be an effective alternative treatment method for BPH which may replace classical transureteral resection of the prostate in a selected number of cases.

Prostate specific antigen in the diagnosis and staging of prostate cancer.

Prostate Specific Antigen (PSA) has revolutionized our approach to managing patients with an established diagnosis of cancer of the prostate (CaP). Moreover, its use in early detection and screening has resulted in the most sensitive method of detecting CaP. Furthermore it is regarded as the most important tumour marker in tumour biology. This article will discuss some important advances in the application of PSA.

Visual laser ablation of the prostate: efficacy evaluated by urodynamics and compared to TURP.

OBJECTIVE: To determine the efficacy of visual laser ablation of the prostate (VLAP) in comparison to conventional transurethral resection of the prostate (TURP). MATERIAL AND METHODS: 133 patients with benign hyperplasia of the prostate (BPH) were treated by VLAP (n = 90) or TURP (n = 43). International prostate symptom score (IPSS), uroflow, residual urine and grade of obstruction determined by pressure flow studies were evaluated before and after treatment. The VLAP was performed by means of a side firing laser fiber under visual control and using a Nd:YAG laser as energy source. RESULTS: VLAP could improve IPSS, uroflow and residual urine in all patients. However, the obstruction grade was lowered to normal only in patients with prostates smaller than 50 ml, whereas TURP was able to eliminate the obstruction in all patients. CONCLUSION: VLAP can be offered as an alternative to TURP in patients with BPH as long as the prostate volume is not bigger than 50 ml.

Evaluation of possible tissue damage in patients undergoing extracorporeal shock wave lithotripsy employing C-reactive protein.

Extracorporeal shock wave lithotripsy (ESWL) has become the most common treatment for stones in the upper urinary tract. Tissue injury related to ESWL has been documented. C-reactive protein (CRP) is the classical acute-phase protein most recognized as an early marker in diseases characterized by inflammation and tissue injury. Possible tissue trauma by ESWL was evaluated by serial CRP determinations in 150 patients with kidney stones, whose follow-up was uneventful. The mean CRP-concentration prior to ESWL was 6.34 mg/l. The majority of patients did not show any further elevation of CRP-levels. Mean CRP-levels were 7.62 mg/l on the first, 6.12 mg/l on the third and 5.09 mg/l on the fifth day after ESWL. No correlation was observed between the number of shock waves and CRP levels. Judged by CRP-determinations tissue damage induced by ESWL can be considered to be minimal as no marked CRP-elevations could be observed in patients with an uneventful follow-up after ESWL.

Adenocarcinoma of the urachus: 3 case reports and a review of the literature.

Urachal carcinoma of the bladder is a very rare tumor which has to be differentiated from primary adenocarcinoma of the urinary bladder. The treatment of choice is extended partial cystectomy with inclusion of the umbilicus and the peritoneum. Symptoms occur late and the diagnosis has to be made by preoperative transurethral biopsy. We herein report on 3 cases of urachal adenocarcinoma of the urinary bladder and reviewed the literature.

Seizures associated with cisplatin administration.

A 50-year-old patient with a diagnosis of a primary extragonadal germ cell tumor received cisplatin-containing polychemotherapy and developed seizures after the first course of drug administration. We discuss this very rare toxic side effect of cisplatin and present a review of the literature concerning the experience with neurotoxic effects exerted by this agent.

Laparoscopic ureterolysis in retroperitoneal fibrosis.

We reported on 5 patients with retroperitoneal fibrosis with dilatation of the upper urinary tract. All patients were operated on laparoscopically. Surgery consisted of complete ascending ureterolysis from the pelvis up to the renal pelvis, biopsy of periureteral tissue, intraperitonealisation and/or preparing an omental flap to separate the ureters from the retroperitoneal vessels. Operating time was reduced from 4 hours in a unilateral case down to 5 hours in a bilateral case by performing three-dimensional video endoscopy. In case of Ormond's disease postoperative immunosuppressive medication was given. Ureterolysis in Ormond's disease is a rare but reasonable indication for reconstructive laparoscopic surgery. Both ureters are accessible in full length either transperitoneal or retroperitoneal. Provided all goals of open surgery can be achieved by the laparoscopic technique, patients will benefit from the minimal access.

Biofeedback in the treatment of voiding disorders in childhood.

Voiding disorders are a common problem in pediatric urology. Biofeedback is a non-invasive method in the treatment of voiding disorders in childhood. Biofeedback takes aim at the learning or relearning of influencing involuntary functions. We report about our preliminary results of biofeedback training in the treatment of the enuretic syndrome in children. Out of 26 children with pseudo-detrusor-sphincter-dyssynergy 17 could be completely cured and 5 improved considerably. Out of 21 children with motor urgency 9 could be completely cured and 7 children improved. Biofeedback is a successful method to treat children with the enuretic syndrome.

Bellini duct carcinoma: a rare variant of renal cell carcinoma.

Bellini Duct Carcinoma (BDC) or collecting duct carcinoma is a rare but very aggressive renal neoplasm which originates from the epithelium of the ducts of Bellini in the distal tubule. This tumour often occurs in a young population and has a bad prognosis. Histomorphological differentiation from the more common renal cell carcinoma of the proximal tubuli is difficult. Immunohistochemic and cytogenetic characterisation can lead to the correct diagnosis.

Long-term follow-up after primary extracorporeal shockwave lithotripsy monotherapy of staghorn calculi: results after more than 6 years.

OBJECTIVE: We retrospectively investigated 58 patients suffering from 60 staghorn calculi, who were treated with primary extracorporeal shockwave lithotripsy (ESWL) monotherapy, in order to determine long-term results and the fate of the residual stones. MATERIAL AND METHODS: Mean follow-up was 72.4 months. There were 49 partial staghorn calculi (C4) and 11 complete C5 stones according to Rocco's classification. The mean number of ESWL sessions needed for disintegration was 3.6. The mean amount of shockwaves was 10,244. ESWL monotherapy alone was performed in 26 staghorn calculi (43.3%). In treating the other 34 staghorn calculi 56 auxiliary procedures were necessary. RESULTS: At discharge 28.3% of the patients were free of stones. Fifty-five percent had small remnant particles (< 4 mm) and 16.7% had rest-fragments (> 4 mm). After a mean follow-up period of 72.4 months 36 patients were free of stones (60%). Twenty-four patients still have residual stones. The fragments in 2 patients did not change in size, in 14 patients fragments became bigger and 8 patients had a real recurrence (13.3%). CONCLUSIONS: Primary ESWL monotherapy of staghorn calculi is justified because of the comparable results with open surgery and percutaneous nephrolithotomy (PCNL). Prognostic good factors are small stone mass with most of the stone mass in the upper and middle calices, the absence of dilatation and the absence of anatomical anomalies.

Determination of prostate gland volume by transrectal ultrasound: correlation with radical prostatectomy specimens.

Estimation of the prostate gland volume employing transrectal ultrasound provides important additional information in patients with benign and malignant diseases of the prostate. Twenty-five patients underwent transrectal ultrasound of the prostate prior to radical prostatectomy for organ-confined cancer of the prostate. The prostate gland volume was calculated employing two different methods. The prostate specimen weights were compared with the results of each of the volume estimation method. The prolate ellipse formula, widely used as an alternative to planimetry, demonstrated a correlation coefficient of r2 = 0.831. However, a variation of the prolate ellipse formula expressed as (width x width x height) x pi/6, which is easier to perform as described by Terris and Stamey, exhibited a correlation coefficient of r2 = 0.829. It appears to be a reliable means of estimating prostate gland volume, especially in cases in whom the original formula is difficult to apply.

Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome.

A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.