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1.
Acta Chir Orthop Traumatol Cech ; 85(1): 54-56, 2018.
Article in English | MEDLINE | ID: mdl-30257770

ABSTRACT

PURPOSE OF THE STUDY With the concept of the lateral compression plate (LLCP) a technique has been available designed to combine the advantages of a fixed-angle fixation with a complete sinking of the implant into the proximal bone. The objective of the present study was to investigate the results of the LLCP compared with classical screw osteosynthesis (SO). MATERIAL AND METHODS 31 patients with pes planovalgus who received calcaneal displacement osteotomy and osteosyntheses with screws (n = 17) or LLCP (n = 14) between 2010 and 2015 were investigated retrospectively.The ankle-hindfoot scale, Kaikkonen score, VAS, and the SF-36 were determined preoperatively as well as at the last clinical follow-up. In addition, a radiological control of osseous integration was performed in all patients 12 weeks after surgery. RESULTS With regard to clinical scores both methods depicted significant improvement. In the overall cohort there were no pseudarthroses. In the SO group 5 cases (29%) showed hardware irritation, in the LLCP group there were none. Results in the LLCP group were significantly superior in the area of the physical section of the SF 36. CONCLUSIONS Based on the results of our study, surgical treatment of stage II pes planovalgus by means of calcaneal displacement osteotomy using the LLCP is equivalent to SO with a lower incidence of hardware irritation. Key words:pes planovalgus, lateral compression plate, osteosynthesis, screw, hardware irritation. LEVEL OF EVIDENCE: Level IV, retrospective case serie.


Subject(s)
Flatfoot/surgery , Fracture Fixation, Internal , Osteotomy , Postoperative Complications , Soft Tissue Injuries , Bone Plates , Bone Screws , Bony Callus/diagnostic imaging , Calcaneus/surgery , Comparative Effectiveness Research , Female , Flatfoot/diagnosis , Fracture Fixation, Internal/adverse effects , Fracture Fixation, Internal/instrumentation , Fracture Fixation, Internal/methods , Germany , Humans , Male , Middle Aged , Osteotomy/adverse effects , Osteotomy/instrumentation , Osteotomy/methods , Outcome Assessment, Health Care , Postoperative Complications/diagnosis , Postoperative Complications/etiology , Postoperative Complications/prevention & control , Soft Tissue Injuries/diagnosis , Soft Tissue Injuries/etiology , Soft Tissue Injuries/prevention & control
2.
Urologe A ; 56(10): 1282-1288, 2017 Oct.
Article in German | MEDLINE | ID: mdl-28819828

ABSTRACT

BACKGROUND: Urethrocutaneous (UC) fistulae are common complications after hypospadias surgery and they have been a serious problem for surgeons since the repair was first attempted. We present the results of our multicentre retrospective study for repairing UC fistulae using the Patio ("preserve the tract and turn it inside out") repair described by Malone. MATERIALS AND METHODS: A total of 16 boys (Eschweiler 2, Lingen 4, Reading 10) at the ages of 1-10 years were treated for UC fistulae. Instead of excising the fistula tract, it is preserved and turned inside out, this creates a flap valve inside the urethral lumen. After a circumferential incision around the skin and meticulous dissection of the fistula tract, a 2/0 nylon suture is passed down the tract and brought out through the external urinary meatus. As a result, the fistula tract is inserted into the urethral lumen. In order to keep the fistula tract inverted, it is sutured to the tip of the external urinary meatus, or fixed by an angler lead (modification from Lingen). Due to the narrow base, the excess tissue atrophies postoperatively and leads to an appealing cosmetic result. RESULTS: A total of 9 fistula repairs were performed on an outpatient basis without using a transurethral catheter; 7 boys were treated on an inpatient basis with an average length of stay in the hospital for 1-2 days with/without catheterization. During a mean follow-up of up to 4.5 years, only one fistula recurrence occurred; no other complications were observed. CONCLUSION: The Patio repair for urethrocutaneous fistula is an outpatient, simply reproducible surgical technique without the necessity of transurethral catheterization. The short-term results are impressive; long-term results of a larger patient cohort will follow.


Subject(s)
Cutaneous Fistula/surgery , Hypospadias/surgery , Postoperative Complications/surgery , Urethral Diseases/surgery , Urinary Fistula/surgery , Child , Child, Preschool , Esthetics , Follow-Up Studies , Humans , Infant , Male , Reoperation , Retrospective Studies , Suture Techniques , Urethra/surgery
3.
Acta Chir Orthop Traumatol Cech ; 82(6): 437-9, 2015.
Article in English | MEDLINE | ID: mdl-26787185

ABSTRACT

This is the first description of an arthroscopic-assisted intraosseous balloon-assisted repositioning and defect filling of a tibial plateau fracture. The bone defect was filled with calcium phosphate cement in a liquid/paste form. The described technique was therefore introduced in order to allow an arthroscopic control of reposition and intra-articular cement escape during defect filling. X-rays showed an exact reposition without cement escape and the clinical outcome was satisfactory.


Subject(s)
Arthroscopy/methods , Fracture Fixation, Internal/methods , Tibial Fractures/surgery , Bone Cements/therapeutic use , Calcium Phosphates/therapeutic use , Dilatation/methods , Humans , Male , Middle Aged , Radiography , Tibial Fractures/diagnostic imaging
4.
Acta Physiol (Oxf) ; 211(1): 61-72, 2014 May.
Article in English | MEDLINE | ID: mdl-24571057

ABSTRACT

AIM: Atherosclerosis is the most common cause of cardiovascular disease. The ApoB mouse is a model for human familial hypercholesterolaemia and has a lipoprotein profile similar to that of humans with atherosclerosis. Therefore, it is a suitable model to investigate the changes in vasoreactivity during atherogenesis. This study investigates contractile and dilatative properties of arteries in this model in relation to age. METHODS: Male ApoB mice and B6, wild-type (WT), mice were examined at age four or 18 months. Isometric measurements of 2-mm ring preparations of the aorta thoracica were performed using a wire myograph. Histological and biochemical methods served to determine atherosclerosis, lipid status and endothelial markers respectively. RESULTS: Morphometric analysis showed that all old ApoB mice had severe atherosclerosis in the aorta. Atherosclerotic alteration of the aorta of the ApoB mice coincided with a diminished vasodilatation to acetylcholine. The phenylephrine response was significantly attenuated already to the same degree in the non-atherosclerotic aorta of the young ApoB mice as in the atherosclerotic aorta of the older ApoB mice. Serum parameters showed a rise in total cholesterol and triglycerides in the ApoB strain compared to WT mice. Soluble intercellular adhesion molecule (sICAM)-1 and soluble vascular adhesion molecule (sVCAM)-1 were increased in old compared to young ApoB mice. CONCLUSION: The study shows that reduced acetylcholine-induced dilatation is related to the presence of atherosclerosis in old ApoB mice. Remarkably, the impaired vessel reactivity to phenylephrine already in young ApoB mice indicates early changes in vascular function in this model.


Subject(s)
Aorta, Thoracic/physiopathology , Arteries/physiopathology , Atherosclerosis/physiopathology , Hyperlipoproteinemia Type II/physiopathology , Animals , Aorta, Thoracic/pathology , Apolipoproteins B/genetics , Arteries/pathology , Atherosclerosis/blood , Atherosclerosis/genetics , Cholesterol/blood , Disease Models, Animal , Hyperlipoproteinemia Type II/blood , Hyperlipoproteinemia Type II/genetics , Intercellular Adhesion Molecule-1/blood , Male , Mice , Vascular Cell Adhesion Molecule-1/blood
5.
Transplant Proc ; 38(3): 691-2, 2006 Apr.
Article in English | MEDLINE | ID: mdl-16647446

ABSTRACT

PURPOSE: Ureteral necrosis is a serious problem in kidney transplantation. Sometimes re-ureterocystostomy is possible, while other cases require an elaborate reconstruction to maintain kidney function. We report our experience with ileum interposition for ureteral reconstruction. METHODS: After 9 years of dialysis treatment a 58-year-old patient was grafted using the left kidney of a 59-year-old donor with a cold ischemic time of 9.5 hours. The early postoperative course was uneventful apart from delayed graft function. Immunosuppression consisted of an IL-2-receptor antibody, calcineurin inhibitor, mycophenolate mofetil, and corticosteroids. Discharge serum creatinine was 2.3 mg/dL. In month 4 the patient showed a pararenal urinoma; cystoscopy revealed necrosis of the distal ureter. Operative revision showed urine leakage from the renal pelvis through the urinoma into the bladder. As the whole ureter was necrotic, a re-ureterocystostomy was not possible. The patient's own ureter had been extirpated, and the bladder was too small to do a direct anastomosis between it and the kidney. Consequently, an ileum interposition was performed. RESULTS: The postoperative course was uneventful. Kidney function was stable with a nadir creatinine concentration of 2.0 mg/dL 18 months' posttransplantation, and 14 months' post ileal interposition the kidney function was still satisfactory, with a creatinine level of 2.0 mg/dL. CONCLUSION: Ureteral necrosis is a serious complication following kidney transplantation. Whenever a re-ureterocystostomy or an uretero-ureterostomy is not possible, the interposition of the ileal segment represented a safe procedure to deal with this problem.


Subject(s)
Ileum/surgery , Kidney Transplantation/methods , Ureter/pathology , Ureter/surgery , Humans , Immunosuppressive Agents/therapeutic use , Kidney Transplantation/immunology , Middle Aged , Necrosis , Plastic Surgery Procedures
7.
Urologe A ; 44(12): 1469-72, 2005 Dec.
Article in German | MEDLINE | ID: mdl-16133230

ABSTRACT

Renal angiomyolipomas are mesenchymal tumors that are composed of fat tissue, smooth muscle cells and vessels. These are benign tumors, but in rare cases they show a more aggressive growth pattern with invasion into the venous system but without revealing any signs of malignancy. We report a new case of bilateral renal angiomyolipomas with a caval thrombus in a 36 year old female patient with tuberous sclerosis, and give a brief review of the related literature.


Subject(s)
Angiomyolipoma/complications , Angiomyolipoma/diagnosis , Kidney Neoplasms/complications , Kidney Neoplasms/diagnosis , Vena Cava, Inferior/pathology , Venous Thrombosis/diagnosis , Venous Thrombosis/etiology , Adult , Angiomyolipoma/therapy , Female , Humans , Kidney Neoplasms/therapy , Neoplasm Invasiveness , Venous Thrombosis/therapy
8.
Aktuelle Urol ; 36(4): 317-28, 2005 Aug.
Article in German | MEDLINE | ID: mdl-16110405

ABSTRACT

"Obstructive uropathy" is a generic term which combines different diseases in infants and childhood. Both the upper and lower urinary tract may be affected. Diseases of the urinary tract can cause an intrinsic obstruction. Sometimes tumours may cause a compression and as secondary effect an obstruction (extrinsic). Ultrasound is the key diagnostic tool and shows dilatation of the obstructed urinary tract. But for the functional exploration of babies and toddlers, renal scanning and X-ray examinations are necessary. These examinations lead to an exposure to radiation which necessitates careful indication. Some of the congenital diseases (for example ureteropelvic junction obstruction, megaureter) show a maturation without any intervention. So one has to decide whether to wait and see or to operate. A percutaneous nephrostomy or a DJ-catheter is not often used in the treatment of obstruction in general. These forms of drainage are more often used in the treatment of stones or of extrinsic obstruction. A pyelocutaneostomy or ureterocutaneostomy is a special surgical procedure in pediatric urology for transient drainage of the upper urinary tract (megaureter). The operation of a seriously ill new-born should be done in a centre for pediatric urology and pediatric nephrology. When the upper urinary tract is dilated, patients may need an antibiotic prophylaxis, because the dilatation of the upper urinary tract increases the risk of urinary tract infections (UTI). The indication for antibiotic prophylaxis should by guided by the criteria of the APN-Consensus Paper. Long-term follow-up is necessary and should comprise ultrasound, physical examination, controlling the blood pressure, urine analysis and blood tests. The aims of diagnostics, treatment and long-term follow-up are the preservation of renal function and to protect the children from UTI. This goal must be reached under conditions that are appropriate for children and their parents.


Subject(s)
Hydronephrosis , Kidney/abnormalities , Polycystic Kidney Diseases , Ureter/abnormalities , Ureteral Obstruction , Ureterocele , Urethra/abnormalities , Urethral Stricture , Vesico-Ureteral Reflux , Age Factors , Animals , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Child , Diagnosis, Differential , Disease Models, Animal , Drainage , Follow-Up Studies , Humans , Hydronephrosis/diagnosis , Hydronephrosis/diagnostic imaging , Hydronephrosis/embryology , Hydronephrosis/physiopathology , Hydronephrosis/surgery , Infant , Infant, Newborn , Kidney/embryology , Nephrectomy , Nephrostomy, Percutaneous , Polycystic Kidney Diseases/diagnosis , Radiography , Radionuclide Imaging , Time Factors , Ultrasonography , Ureter/embryology , Ureteral Obstruction/diagnosis , Ureteral Obstruction/diagnostic imaging , Ureteral Obstruction/embryology , Ureteral Obstruction/physiopathology , Ureteral Obstruction/surgery , Ureterocele/diagnosis , Ureterocele/diagnostic imaging , Ureterocele/surgery , Urethra/diagnostic imaging , Urethral Stricture/diagnosis , Urinary Calculi/diagnosis , Urinary Calculi/surgery , Urinary Tract Infections/prevention & control , Vesico-Ureteral Reflux/diagnosis
9.
Z Geburtshilfe Neonatol ; 209(3): 100-7, 2005 Jun.
Article in German | MEDLINE | ID: mdl-15995942

ABSTRACT

BACKGROUND: The embryological development of the kidneys and the urinary tract follows a complex choreography. Disorders are quite common. The incidence of disorders amounts to 0.3 - 0.8 % of live-born infants. In addition, several chromosomal anomalies are combined with renal malformations. The poor prognosis of some of these diseases is reflected in a perinatal mortality of 6.3 %. PATIENTS AND METHODS: Retrospectively 124 cases with fetal nephro-/uropathy detected by prenatal ultrasonography between 1996 and 2002 were analyzed. Features of hypo-dysplastic kidneys (uni- or bilateral) were seen in 21 cases. Multicystic kidney disease (uni- or bilateral) existed in 40 fetuses. In some cases of multicystic or dysplastic kidney diseases, extrarenal malformations were combined. 21 fetuses suffered from autosomal recessive polycystic kidney disease. 18 male unborns showed the typical picture of intravesical obstruction due to posterior uretheral valves. The prune belly syndrome was seen 4 times. Hydronephrotic kidneys with more than 5 mm pelvic dilatation were detected in 13 cases. Renal agenesis led to a lethal outcome perinatally in 5 cases. One child died of bilateral thrombosis of renal artery and venous system. RESULTS: The high incidence of diseases with a poor prognosis accounts for the high mortality of 50.8 % (intrauterine or postnatal death, induced abortion). Such a fatal outcome was observed in autosomal recessive polycystic kidney disease, bilateral multicystic dysplastic kidney disease, bilateral renal dysplasia combined with severe extrarenal malformations, intravesical obstruction, renal agenesis and bilateral thrombosis of the renal vessels. Only 60 children survived. Of these 26 needed urological surgery. 15 suffered from progressive renal insufficiency. During a follow-up of 8 - 58 months only 44 exhibited a normal renal function. CONCLUSIONS: Such complex renal and urological diseases in the fetus require an interdisciplinary management of the pregnancy.


Subject(s)
Fetal Diseases/epidemiology , Fetal Diseases/mortality , Kidney Diseases/diagnostic imaging , Kidney Diseases/mortality , Risk Assessment/methods , Urologic Diseases/diagnostic imaging , Urologic Diseases/mortality , Female , Fetal Diseases/embryology , Germany/epidemiology , Humans , Incidence , Kidney Diseases/embryology , Male , Retrospective Studies , Risk Factors , Ultrasonography , Urologic Diseases/embryology
10.
Aktuelle Urol ; 35(5): 418-25, 2004 Sep.
Article in German | MEDLINE | ID: mdl-15368132

ABSTRACT

Regional anesthetic techniques are widely used in pediatric anesthesia since they represent excellent tools to prevent and treat postoperative pain. Their range of application has considerably expanded during the last decades, and virtually all aspects of surgical pain management can benefit from their appropriate use. Previously considered unreliable and potentially hazardous, regional anesthetic techniques have now been proven safe. Most children undergoing outpatient surgery can benefit from regional anesthetic techniques, either as the sole anesthetic regimen or, as usual in pediatric practice, in combination with light anesthesia. Central blocks as well as peripheral nerve blocks are well tolerated by infants and young children. They are easy to perform and show a high level of efficacy. Only the patient's history has to be available. No tests, such as invasive blood coagulation screening, are required. Subsequent to a regional anesthesia, non-opioid analgetics, e. g., paracetamol or ibuprofen, have to be used for further pain management.


Subject(s)
Anesthesia, Conduction , Urologic Surgical Procedures , Acetaminophen/therapeutic use , Age Factors , Ambulatory Surgical Procedures , Analgesics, Non-Narcotic/therapeutic use , Child , Child, Preschool , Female , Humans , Ibuprofen/therapeutic use , Infant , Infant, Newborn , Male , Nerve Block , Pain, Postoperative/drug therapy , Pain, Postoperative/prevention & control , Safety
11.
BJU Int ; 93(3): 388-92, 2004 Feb.
Article in English | MEDLINE | ID: mdl-14764144

ABSTRACT

OBJECTIVES: To report a retrospective study of unilateral multicystic dysplastic kidneys (MCDK) in children, assessing the contralateral kidneys and urinary tract, the functional consequences, and the urological and nephrological management and outcome, as unilateral MCDK is the most common cause of renal cystic disease in children, and malformations of the contralateral urinary tract and kidney (pelvi-ureteric obstruction, megaureter, reflux, renal dysplasia) have been reported. PATIENTS AND METHODS: The study included 97 patients (60 boys, 37 girls) with MCDK seen between 1985 and 1998; 82 were diagnosed in utero by ultrasonography (US). After birth, the diagnosis was verified by US, renal scanning (in 93) or intravenous urography (in four), and 89 (92%) had voiding cysto-urethrography (VCUG). Of the 97 children, 87 (90% had a mean (range) follow-up of 44.3 (15-115) months. RESULTS: The MCDK was removed in 17 children; the follow-up of 75 children (five lost to follow-up) showed total involution of the MCDK in 25%, shrinkage in 60% and a stable size in 15%. None had any sign of malignancy. The contralateral kidney showed anomalies in 19 of 97 children (20%); 12 had a dilated renal pelvis (two with megaureter), six had a high echogenicity of the contralateral kidney (one had reflux, and two also pelvic dilatation). In only four of the 89 children was reflux found by VCUG; 16 of the 19 anomalies were detected by US. Five children needed surgery on the contralateral urinary tract (three a pyeloplasty, and one each a pyeloplasty plus ureteroneocystostomy, and an antireflux procedure). Of the contralateral kidneys 43% showed compensatory hypertrophy. There was mild renal insufficiency in three children; renal function seemed to be slightly impaired in many. Five infants had hypertension (four with spontaneous resolution) caused by renal scarring after pyelonephritis or inborn dysplasia of the contralateral kidney. There were symptomatic urinary tract infections in seven children. CONCLUSION: US can be used safely to diagnose unilateral MCDKs and malformations of the contralateral urinary tract and kidney. In cases where US of the dysplastic kidney remains uncertain renal scintigraphy is necessary to detect the lack of renal function. The low rate of reflux makes routine VCUG unnecessary if the contralateral upper urinary tract and kidney appear to be normal on US. Nephrectomy of the dysplastic kidney in typical cases is also unnecessary. A long-term nephro-urological follow-up of children with MCDK is recommended.


Subject(s)
Multicystic Dysplastic Kidney/therapy , Child , Child, Preschool , Female , Glomerular Filtration Rate/physiology , Humans , Hypertrophy , Infant , Kidney/pathology , Male , Multicystic Dysplastic Kidney/diagnostic imaging , Multicystic Dysplastic Kidney/physiopathology , Nephrectomy/methods , Pregnancy , Retrospective Studies , Ultrasonography, Prenatal , Urinary Tract Infections/etiology
12.
Aktuelle Urol ; 34(7): 484-7, 2003 Dec.
Article in German | MEDLINE | ID: mdl-14655087

ABSTRACT

INTRODUCTION: Congenital prepubic sinus (CPS) is a rare diagnosis. It is defined as a blind-ending tract originating from the midline of the genital region. There are three types of CPS classified according to the course of the tract and location of the skin opening. The etiology is thought to be an intussusception during fusion of the abdominal wall or, alternatively, incomplete urethral duplication. CASE REPORT: We report on a two-year-old boy with a skin fistula on the dorsal side of the penis. A slight secretion occurred when the surrounding subcutaneous tissue was compressed. After total resection of the sinus, histological examination revealed that the tract was lined primarily with multilayered epithelium. Immunohistochemical studies showed that the sinus was lined with transitional and squamous epithelium. At the base the lining epithelium was transitional and shifted distally to noncornifying squamous epithelium. The epithelial layer therefore corresponded to the inner surface of the urethra, thus supporting the assumption that CPS results from incomplete urethral duplication. CONCLUSION: The immunohistochemical examination of the epithelium of Type II CPS proved, in this case, the existence of urothelium as the inner surface of the sinus. In view of this evidence it appears likely that the congenital prepubic sinus can be classified etiologically as an incomplete urethral duplication.


Subject(s)
Cutaneous Fistula/congenital , Penis/abnormalities , Urethra/abnormalities , Child, Preschool , Cutaneous Fistula/diagnosis , Cutaneous Fistula/surgery , Humans , Immunohistochemistry , Infant , Male , Penis/surgery , Urethra/surgery
13.
Urologe A ; 41(3): 231-8, 2002 May.
Article in German | MEDLINE | ID: mdl-12132272

ABSTRACT

Within the last 10 years, immunotherapy has progressively become an established treatment for patients with metastatic renal cell carcinoma. The cytokines interleukin-2 (IL-2) and interferon-alpha (IFN-alpha) are the substances that have shown the greatest effects. Both have been approved for the treatment of patients with metastatic renal cell carcinoma in Germany. Subcutaneous application of these frequently combined cytokines is the schedule of immunotherapy used most often in Germany. Combined cytokine therapy (IL-2 and IFN-alpha) achieves response rates comparable to more aggressive immunotherapies. The retrospective analysis of treatment results from 66 patients with a follow-up of at least 5 years after the start of combined s.c. IL-2 and s.c. IFN-alpha +/- 5-fluorouracil (response classification: CR: 7, PR: 11, SD: 20, PD: 28) shows that the classification of the treatment results according to WHO criteria is the strongest predictor for survival compared with basic factors such as TNM status, grading, or number of metastatic sites. The combination of cytokine treatment with other treatment modalities (for example, surgical intervention) leads to a differentiated treatment according to the tumor status of the patient with metastatic renal cell carcinoma. Specific immunotherapies are still experimental. No approval has been granted for any of these treatments. Only standardization of these protocols can lead to a supplemental form of immunotherapy. Although several aspects of cytokine-based immunotherapy need further scientific evaluation, it is the treatment of choice for patients with metastatic renal cell carcinoma. However, for further progress in this field, prospective evaluation of immunotherapy for metastatic renal cell carcinoma is still needed. The German society for immunotherapy serves as a platform for this research.


Subject(s)
Antineoplastic Agents/therapeutic use , Carcinoma, Renal Cell/drug therapy , Interferon-alpha/therapeutic use , Interleukin-2/therapeutic use , Kidney Neoplasms/drug therapy , Neoplasm Metastasis/therapy , Adult , Aged , Antineoplastic Agents/adverse effects , Carcinoma, Renal Cell/mortality , Carcinoma, Renal Cell/pathology , Drug Therapy, Combination , Female , Germany , Humans , Interferon-alpha/adverse effects , Interleukin-2/adverse effects , Kidney Neoplasms/mortality , Kidney Neoplasms/pathology , Male , Middle Aged , Neoplasm Staging , Retrospective Studies , Survival Rate
14.
Aktuelle Urol ; 33(1): 64-7, 2002 Jan.
Article in German | MEDLINE | ID: mdl-14562243

ABSTRACT

Ectopic kidneys are frequently associated with primary renal dysplasia or a disturbance of urine transport. Sacral agenesis is defined by the absence of two or more bodies of the lower vertebral and is often associated with a neurogenic bladder dysfunction. A 5-year-old boy with sacral agenesis and a right-sided cake kidney, presented with progredient renal failure caused by recurrent urinary tract infections, incomplete bladder emptying and vesicorenal reflux. After extensive diagnostics, the anatomical situation was explored by laparotomy to find a solution for this complex situation. Despite modern diagnostic tools, the preoperatively estimated renal function of the cake kidney was incorrect. After resecting of the right collecting system and refluxing megaureter out of the cake kidney, anti-refluxive implantation of the left ureter into the bladder was performed and the megacystis was treated by detrusor duplication. After three years, the now 8-year-old boy voids residual free without any signs of urinary tract infection. Renal function and proteinuria have improved. The only medication required is nifedipine (20 mg twice a day) for treatment of the renal hypertension.

15.
J Clin Endocrinol Metab ; 86(9): 4151-60, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11549642

ABSTRACT

Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains of the AR. The commonly accepted concept of dependence on fetal androgens of the development of Wolffian ducts was studied in complete androgen insensitivity syndrome (CAIS) patients. In a nationwide survey in The Netherlands, all cases (n = 49) with the presumptive diagnosis androgen insensitivity syndrome known to pediatric endocrinologists and clinical geneticists were studied. After studying the clinical phenotype, mutation analysis and functional analysis of mutant receptors were performed using genital skin fibroblasts and in vitro expression studies. Here we report the findings in families with multiple affected cases. Fifty-nine percent of androgen insensitivity syndrome patients had other affected relatives. A total of 17 families were studied, seven families with CAIS (18 patients), nine families with partial androgen insensitivity (24 patients), and one family with female prepubertal phenotypes (two patients). No phenotypic variation was observed in families with CAIS. However, phenotypic variation was observed in one-third of families with partial androgen insensitivity resulting in different sex of rearing and differences in requirement of reconstructive surgery. Intrafamilial phenotypic variation was observed for mutations R846H, M771I, and deletion of amino acid N682. Four newly identified mutations were found. Follow-up in families with different AR gene mutations provided information on residual androgen action in vivo and the development of the prepubertal and adult phenotype. Patients with a functional complete defective AR had some pubic hair, Tanner stage P2, and vestigial Wolffian duct derivatives despite absence of AR expression. Vaginal length was functional in most but not all CAIS patients. The minimal incidence of androgen insensitivity syndrome in The Netherlands, based on patients with molecular proof of the diagnosis is 1:99,000. Phenotypic variation was absent in families with CAIS, but distinct phenotypic variation was observed relatively frequent in families with partial androgen insensitivity. Molecular observations suggest that phenotypic variation had different etiologies among these families. Sex assignment of patients with partial androgen insensitivity cannot be based on a specific identified AR gene mutation because distinct phenotypic variation in partial androgen insensitivity families is relatively frequent. In genetic counseling of partial androgen insensitivity families, this frequent occurrence of variable expression resulting in differences in sex of rearing and/or requirement of reconstructive surgery is important information. During puberty or normal dose androgen therapy, no or only minimal virilization may occur even in patients with significant (but still deficient) prenatal virilization. Wolffian duct remnants remain detectable but differentiation does not occur in the absence of a functional AR. In many CAIS patients, surgical elongation of the vagina is not indicated.


Subject(s)
Androgen-Insensitivity Syndrome/genetics , Adolescent , Adult , Androgen-Insensitivity Syndrome/epidemiology , Androgen-Insensitivity Syndrome/pathology , Child , Child, Preschool , DNA/genetics , Electrophoresis, Polyacrylamide Gel , Female , Gene Frequency , Genotype , Humans , Immunohistochemistry , Infant , Male , Netherlands/epidemiology , Pedigree , Phenotype , Phosphorylation , Receptors, Androgen/genetics , Vagina/surgery
16.
Eur Urol ; 39(5): 591-7, 2001 May.
Article in English | MEDLINE | ID: mdl-11464043

ABSTRACT

OBJECTIVES: Extracorporeal shock wave lithotripsy (ESWL) is effective and safe for the treatment of upper urinary tract calculi in adults. Some speculations concerning possible damages from ESWL on the growing kidney have been raised. METHODS: From January 1990 to December 1998, 64 children (30 girls and 34 boys; 8 months to 15 years old, mean 5.6 years) with a total of 83 stones of the upper urinary tract were treated by ESWL (Lithostar). Preoperative evaluation included history, physical examination, routine blood tests, urinalysis, urine culture, intravenous urography and optional renal scintigraphy. The impulse rate per treatment varied from 750 to 4,000 (mean 2,996). After acute treatment, routine follow-up included renal ultrasound, blood pressure controls, laboratory tests and eventually plain film X-ray. RESULTS: Successful fragmentation of the stones was achieved in all patients. In 54% the patients were free of stones treated at the time of discharge. At 3 months after treatment radiographic studies showed no residual fragments in 80% of the treated children. 83% of the treated stones were cleared entirely. The remaining fragments were clinically insignificant. An average of 2.5 ESWL treatments per child in general anesthesia were required. Stone analysis showed 20 calcium oxalate, 38 calcium phosphate, 12 struvite, 2 uric acid and 9 cystine calculi. Ureteral stents were placed in 43%. No significant urinary infection was seen under antibiotic prophylaxis. Only 3 children showed a recurrence (1 x cystinuria with low compliance and 2 x struvite). There was no case of renal scarring. No change in renal function or blood pressure was found compared to the preoperative values. Hematuria and proteinuria disappeared in all children who were free of stones. Renal ultrasound revealed no growth difference between treated and untreated renal units. CONCLUSIONS: In childhood, ESWL is an efficacious and safe treatment of stones of the upper urinary tract. The long-term follow-up after ESWL with a second-generation lithotriptor did not show any signs of damage to the growing kidney. Sometimes repeated ESWL treatments are justified by the low rate of complications.


Subject(s)
Lithotripsy/methods , Urinary Calculi/therapy , Adolescent , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Lithotripsy/adverse effects , Male , Radiography , Risk Factors , Treatment Outcome , Urinary Calculi/diagnostic imaging
17.
Urologe A ; 39(6): 520-6, 2000 Nov.
Article in German | MEDLINE | ID: mdl-11138269

ABSTRACT

Pathogenic aspects of interstitial cystitis (IC) are reviewed on the basis of the current literature applying the criteria of evidence-based medicine (EBM). Three hundred forty-six peer-reviewed publications of the past 30 years were retrieved via MEDLINE employing the key words "interstitial cystitis and pathogenesis or etiology" and classified according to EBM criteria and subject categories. The papers were then reviewed and summarized and are discussed considering the theory of acute and chronic inflammatory responses. In the literature, nearly all steps of the normal inflammatory response are considered pathogenically important in development of the IC syndrome. Applying EBM criteria, all studies fail to meet the criteria for sound statistical evaluation and to demonstrate reproducibly a reliable pathogenic factor. Most publications report only small numbers of patients. Control groups are frequently lacking or too small. Clinically useful criteria for the diagnosis of IC are not properly defined. There is no commonly accepted animal model in which IC occurs naturally or can be artificially induced. Of the 683 IC papers studied, 346 (50.7%) deal with pathogenic or etiological aspects of IC. The inflationary use of the terms pathogenesis or etiology in one out of every two papers calls for more prudent application of terminology in the future. As yet, none of the published pathogenic factors was found to represent the main trigger of the IC syndrome. Some of them seem to be part of a vicious cycle of the inflammatory reaction present. Detailed knowledge of the process of chronic inflammation can lead to treatments that may interrupt an inflammatory response. This might contribute to solving the pathogenic issue of IC and could be helpful in designing further investigations. Advances in understanding the causes of IC require objective criteria to subclassify the heterogenous patient cohort presently referred to as IC syndrome. Such subclassifications are a predisposition for pathogenic investigations and determining future treatment strategies.


Subject(s)
Cystitis, Interstitial/etiology , Cystitis, Interstitial/diagnosis , Diagnosis, Differential , Humans , Urinary Bladder/pathology
18.
Anticancer Res ; 19(2C): 1583-7, 1999.
Article in English | MEDLINE | ID: mdl-10365150

ABSTRACT

PURPOSE: Bone metastases or local recurrences are widely viewed as poor prognostic signs for successful immunotherapy for metastatic renal cell carcinoma (RCC), and even partial remission is a rarity. We assessed the efficacy of the combination of radio and chemo-immunotherapy for bone metastases or local recurrences form RCC. MATERIALS AND METHODS: From February 1994 until September 1997 twelve patients with progressive renal cell carcinoma (9 with bone metastases and 3 with local recurrence) were treated with a combination of chemo-immunotherapy and radio therapy. RESULTS: Four out of twelve patients achieved complete remission (CR), one patient had a partial remission (PR), three were stable and four had disease progression under radio therapy and chemo-immunotherapy. Yet three pts. died of the disease. The toxicity symptoms according to WHO ranged between grade 2 and grade 3. CONCLUSION: Our data suggest that the combination of radio therapy and chemo-immunotherapy may induce a synergistic antitumor effect for the treatment of bone metastases or local recurrences from renal cell carcinoma.


Subject(s)
Carcinoma, Renal Cell/therapy , Kidney Neoplasms/therapy , Adult , Aged , Antineoplastic Agents/therapeutic use , Bone Neoplasms/secondary , Bone Neoplasms/therapy , Carcinoma, Renal Cell/pathology , Carcinoma, Renal Cell/radiotherapy , Combined Modality Therapy/adverse effects , Disease Progression , Female , Fluorouracil/therapeutic use , Follow-Up Studies , Humans , Immunotherapy , Interferon-alpha/therapeutic use , Interleukin-2/therapeutic use , Kidney Neoplasms/pathology , Kidney Neoplasms/radiotherapy , Male , Middle Aged , Neoplasm Metastasis , Neoplasm Recurrence, Local , Neoplasm Staging , Time Factors
19.
FEBS Lett ; 449(2-3): 93-100, 1999 Apr 23.
Article in English | MEDLINE | ID: mdl-10338111

ABSTRACT

T4 lysozyme was thought to destroy bacteria by its muramidase activity. However, we demonstrate here that amphipathic helix stretches in the C-terminus of T4 lysozyme mediate its bactericidal and fungistatic activities. In heat-denatured T4 lysozyme, the enzymatic activity is completely abolished but unexpectedly, the antimicrobial functions remain preserved. Small synthetic peptides corresponding to amphipathic C-terminal domains of T4 lysozyme show a microbicidal activity. Its membrane disturbing activity was directly demonstrated for bacterial, fungal and plant cells but not in a hemolysis assay. Comparable results were obtained with hen egg white lysozyme. This opens up many new opportunities for optimization of lysozymes as antimicrobial agents in various applications by protein engineering.


Subject(s)
Anti-Infective Agents/pharmacology , Bacteriophage T4/enzymology , Muramidase/pharmacology , Animals , Anti-Bacterial Agents , Anti-Infective Agents/metabolism , Cell Membrane/drug effects , Chitinases/metabolism , Egg White , Escherichia coli/drug effects , Escherichia coli/physiology , Muramidase/genetics , Muramidase/metabolism , Mutagenesis , Peptides , Phytophthora/drug effects , Phytophthora/growth & development , Recombinant Fusion Proteins/genetics , Recombinant Fusion Proteins/metabolism , Recombinant Fusion Proteins/pharmacology
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