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1.
Urology ; 177: 60-64, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37028523

RESUMEN

OBJECTIVE: To improve our transitional care, we explored how childhood dysfunctional voiding (DV) develops into adulthood. DV is a common condition in both children and adults. However, the long-term course of childhood DV into adulthood is unknown and treatment over the ages differs. METHODS: A cross-sectional follow-up was performed in a cohort of 123 females treated from 2000 to 2003 for childhood DV with urinary tract infections (UTIs) and/or daytime urinary incontinence (DUI). The main outcome was a staccato or intermittent urinary flow pattern, possibly indicating persistent or recurred DV according to the International Continence Society criteria. Flow patterns of healthy women were used to compare results. RESULTS: Twenty-five patients participated in this study, with a mean duration of 20.8 years after urotherapy. In 10/25 (40%) cases, a staccato or interrupted urinary flow pattern was found on the current measurement, compared to 5/47 (10.6%) in the control group. Around 50% (5/10) of the patients with a dysfunctional flow pattern reported UTIs and 50% (5/10) experienced DUI. In the group with a normal flow pattern, 2/15 (13%) reported UTIs and 9/15 (60%) DUI. The impact of DUI on quality of life was moderate to high in both groups. CONCLUSION: Our results show that 40% of females who had extensive urotherapy for DV in childhood, still have DV according to International Continence Society criteria as an adult, 56% still experience DUI, and 28% UTIs. These data should be taken into account in the counseling of patients and for guiding the process of transition into adulthood.


Asunto(s)
Infecciones Urinarias , Trastornos Urinarios , Niño , Adulto , Humanos , Femenino , Adolescente , Adulto Joven , Calidad de Vida , Estudios Transversales , Infecciones Urinarias/epidemiología , Infecciones Urinarias/terapia , Diafragma Pélvico
2.
Cancers (Basel) ; 15(5)2023 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-36900194

RESUMEN

Pediatric renal cell carcinoma (RCC) is a rare malignancy. Magnetic resonance imaging (MRI) is the preferred imaging modality for assessment of these tumors. The previous literature has suggested that cross-sectional-imaging findings differ between RCC and other pediatric renal tumors and between RCC subtypes. However, studies focusing on MRI characteristics are limited. Therefore, this study aims to identify MRI characteristics of pediatric and young-adult RCC, through a single-center case series and literature review. Six identified diagnostic MRI scans were retrospectively assessed, and an extensive literature review was conducted. The included patients had a median age of 12 years (63-193 months). Among other subtypes, 2/6 (33%) were translocation-type RCC (MiT-RCC) and 2/6 (33%) were clear-cell RCC. Median tumor volume was 393 cm3 (29-2191 cm3). Five tumors had a hypo-intense appearance on T2-weighted imaging, whereas 4/6 were iso-intense on T1-weighted imaging. Four/six tumors showed well-defined margins. The median apparent diffusion coefficient (ADC) values ranged from 0.70 to 1.20 × 10-3 mm2/s. In thirteen identified articles focusing on MRI characteristics of MiT-RCC, the majority of the patients also showed T2-weighted hypo-intensity. T1-weighted hyper-intensity, irregular growth pattern and limited diffusion-restriction were also often described. Discrimination of RCC subtypes and differentiation from other pediatric renal tumors based on MRI remains difficult. Nevertheless, T2-weighted hypo-intensity of the tumor seems a potential distinctive characteristic.

3.
Neurourol Urodyn ; 31(7): 1161-4, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22460334

RESUMEN

PURPOSE: Girls with an anterior deflected urinary stream (ADUS) cannot void in the ideal toileting position, resulting in lower success rates of behavioral training programs. Purpose was to study prospectively the clinical effects of surgical meatus correction for ADUS in girls with dysfunctional voiding (DV). METHODS: A cohort of 171 DV patients aged 6-12 years was investigated. All had recurrent urinary tract infections (UTIs), staccato or interrupted uroflow, and >10% residual urine on ultrasound. For study purposes, all underwent a urodynamic study (UDS) to confirm DV. ADUS was recognized at first examination in 55 patients (32%) and a dorsally directed meatal correction was performed to achieve a normal direction of the urinary stream. The non-ADUS group (116 girls) was given behavioral therapy (BT); however, a subgroup of 11 girls with ADUS was detected with persistent complaints after failed BT. These 11 girls also underwent a meatal correction. RESULTS: All DV complaints were resolved in 25 of the 55 (45%) girls from the original ADUS group and 8 of the 11 (73%) girls from the second group. During UDS, in the ADUS group free of complaints after meatal correction, a significantly higher P(max) (102 cmH(2) O) was found compared to those who did not benefit from correction (P(max) 76 cmH(2)O). CONCLUSION: In this study, 39% of female DV patients had ADUS complaints. After surgical correction, 50% were free of all complaints without requiring any further behavioral training. The fast recovery into a normal voiding pattern in these girls shows that a meatus deformity needs to be looked for in all girls presenting with DV.


Asunto(s)
Uretra/cirugía , Trastornos Urinarios/cirugía , Micción , Procedimientos Quirúrgicos Urológicos , Terapia Conductista , Niño , Femenino , Humanos , Países Bajos , Postura , Estudios Prospectivos , Recuperación de la Función , Recurrencia , Factores de Tiempo , Resultado del Tratamiento , Uretra/anomalías , Infecciones Urinarias/etiología , Trastornos Urinarios/etiología , Trastornos Urinarios/fisiopatología , Urodinámica
4.
J Pediatr Urol ; 18(3): 351.e1-351.e8, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35283021

RESUMEN

INTRODUCTION: Overactive bladder (OAB) with urinary incontinence poses a potentially significant impact on daily activities and quality of life. OAB can be unresponsive to specific urotherapy and antispasmodic medication. Due to its successful outcomes in the treatment of neurogenic bladder, intravesical botulinum-A toxin (BTX-A) became a possible solution for children refractory to treatment. OBJECTIVE: To analyse the outcomes of intravesical BTX-A injections on bladder volume and incontinence in children with refractory OAB. STUDY DESIGN: The charts of children diagnosed with refractory non-neurogenic OAB who underwent BTX-A treatment in our centre since 2011 were retrospectively analysed. The functional bladder volume (FBV) is expressed as a percentage of the expected bladder capacity (EBC) for age. Dependent variables were compared using the Wilcoxon Signed Rank test. A multivariate logistic regression was used to identify predictors of the response on urinary incontinence. RESULTS: Fifty children (41 boys) with a median age of 9.9 years were included. In the short term, there was a significant increase in FBV after initial BTX-A treatment from a median of 52.9%-70% (p = 0.000). In the short (<6 months) and long term (6-12 months) 72% and 46% showed improvement of continence, respectively. Male gender and small baseline FBV predict a positive outcome on continence in the long term. The most prevalent complications were urinary tract infections occurring in five cases (10%). DISCUSSION: Although BTX-A injections serve as an effective therapy to increase bladder volume in non-neurogenic OAB children, the outcomes on urinary incontinence are highly variable. This may be a consequence of the multifactorial aspects of this condition. BTX-A will enable children to inhibit their bladder urgency. The effectiveness of post-BTX-A urotherapy training will therefore most probably be higher. We believe that BTX-A injections should be reserved for children refractory to both specific urotherapy and medication. An appropriate population seems to be children with severe OAB symptoms, confirmed detrusor overactivity in urodynamic study and reduced bladder volume. CONCLUSION: In refractory OAB children, BTX-A injections are safe and effective in enlarging bladder volume and reducing OAB symptoms, particularly in the first six months after injection.


Asunto(s)
Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Vejiga Urinaria Neurogénica , Vejiga Urinaria Hiperactiva , Incontinencia Urinaria , Niño , Humanos , Masculino , Calidad de Vida , Estudios Retrospectivos , Resultado del Tratamiento , Vejiga Urinaria Neurogénica/complicaciones , Vejiga Urinaria Hiperactiva/complicaciones , Vejiga Urinaria Hiperactiva/tratamiento farmacológico , Incontinencia Urinaria/etiología
5.
Curr Oncol ; 29(2): 777-784, 2022 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-35200565

RESUMEN

Nephron-sparing surgery (NSS) in Wilms tumor (WT) patients is a surgically challenging procedure used in highly selective cases only. Virtual resections can be used for preoperative planning of NSS to estimate the remnant renal volume (RRV) and to virtually mimic radical tumor resection. In this single-center evaluation study, virtual resection for NSS planning and the user experience were evaluated. Virtual resection was performed in nine WT patient cases by two pediatric surgeons and one pediatric urologist. Pre- and postoperative MRI scans were used for 3D visualization. The virtual RRV was acquired after performing virtual resection and a questionnaire was used to assess the ease of use. The actual RRV was derived from the postoperative 3D visualization and compared with the derived virtual RRV. Virtual resection resulted in virtual RRVs that matched nearly perfectly with the actual RRVs. According to the questionnaire, virtual resection appeared to be straightforward and was not considered to be difficult. This study demonstrated the potential of virtual resection as a new planning tool to estimate the RRV after NSS in WT patients. Future research should further evaluate the clinical relevance of virtual resection by relating it to surgical outcome.


Asunto(s)
Neoplasias Renales , Cirujanos , Tumor de Wilms , Niño , Humanos , Neoplasias Renales/patología , Neoplasias Renales/cirugía , Nefrectomía/métodos , Nefronas/patología , Nefronas/cirugía , Tumor de Wilms/patología , Tumor de Wilms/cirugía
6.
J Clin Endocrinol Metab ; 107(11): 3035-3044, 2022 11 23.
Artículo en Inglés | MEDLINE | ID: mdl-36071555

RESUMEN

OBJECTIVE: The purpose of this study is to report development of a malignant testicular germ cell tumor (GCT) in 2 young adult males with familial male-limited precocious puberty (FMPP) because of LHCGR pathogenic variants in 2 families. Secondarily, to study the possible relation between FMPP and testicular tumors and to investigate whether FMPP might predispose to development of malignant testicular tumors in adulthood a literature review is conducted. METHODS: Data on 6 cases in 2 families are obtained from the available medical records. In addition, a database search is performed in Cochrane, PubMed, and Embase for studies that report on a possible link between FMPP and testicular tumors. RESULTS: The characteristics of 6 males with FMPP based on activating LH receptor (LHCGR) germline pathogenic variants are described, as are details of the testicular GCTs. Furthermore, a literature review identified 4 more patients with signs of FMPP and a (precursor of) testicular GCT in adolescence or adulthood (age 15-35 years). Additionally, 12 patients with signs of precocious puberty and, simultaneously, occurrence of a Leydig cell adenoma or Leydig cell hyperplasia are reported. CONCLUSION: There is a strong suggestion that FMPP might increase the risk of development of testicular GCTs in early adulthood compared with the risk in the general population. Therefore, prolonged patient monitoring from mid-pubertal age onward including instruction for self-examination and periodic testicular ultrasound investigation in patients with a germline LHCGR pathogenic variant might contribute to early detection and thus early treatment of testicular GCT.


Asunto(s)
Pubertad Precoz , Neoplasias Testiculares , Adolescente , Adulto , Humanos , Masculino , Adulto Joven , Pubertad Precoz/genética , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/genética , Neoplasias Testiculares/patología
7.
Neurourol Urodyn ; 30(8): 1576-9, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21826720

RESUMEN

AIMS: This study was conducted to try to objectify assessment of pediatric uroflowmetry curves. MATERIALS AND METHODS: Nine professionals in pediatric incontinence care judged 480 pediatric uroflows. On a 1-5 scale, where 1 = anomalous and 5 = normal, uroflows were assessed on four items: staccato, interrupted, flow time and obstruction. Eighty uroflows were re-evaluated for intra-observer agreement. After staccato and interrupted flow had been defined more sharply, another 100 uroflows were analyzed. Cohen's Kappa test for nominally classified data was applied to assess agreement. Kappa value of <0.20 denoted poor agreement, 0.21-0.40 fair, 0.41-0.60 moderate, 0.61-0.80 substantial and 0.81-1.0 perfect or almost perfect agreement. A second analysis was done using a 3 point scale, anomalous, intermediate and normal. RESULTS: For interobserver agreement, Kappas were 0.45 for staccato flow, 0.67 for interrupted, 0.59 for flow time, and 0.66 for obstruction. For intra-observer agreement, Kappas were 0.47 for staccato, 0.65 for interrupted, 0.55 for flow time, and 0.65 for obstruction. On a three-point scale, anomalous, intermediate, and normal, interobserver agreement was equal to 0.80 or above. In the second 100 uroflows, the interobserver agreement Kappas were 0.44 for staccato, 0.95 for interrupted, 0.71 for flow time and 0.73 for obstruction. CONCLUSION: Moderate to substantial agreement on uroflowmetry curves can be reached, except for staccato. Agreement increases if staccato and interrupted flows are defined more sharply. Staccato is defined as three or more peaks and troughs of more than the square root of maximal flow without touching 0, whereas interrupted flow needs at least one 0 passage. In a normal, uninterrupted uroflow, flow time is under 15 sec.


Asunto(s)
Técnicas de Diagnóstico Urológico , Vejiga Urinaria/fisiopatología , Incontinencia Urinaria/diagnóstico , Infecciones Urinarias/diagnóstico , Urodinámica , Adolescente , Factores de Edad , Niño , Femenino , Humanos , Masculino , Países Bajos , Variaciones Dependientes del Observador , Valor Predictivo de las Pruebas , Recurrencia , Reproducibilidad de los Resultados , Factores de Tiempo , Incontinencia Urinaria/fisiopatología , Incontinencia Urinaria/terapia , Infecciones Urinarias/fisiopatología , Infecciones Urinarias/terapia
8.
J Pediatr Urol ; 17(6): 791.e1-791.e5, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34538563

RESUMEN

INTRODUCTION: Girls with an anterior deflected urinary stream (ADUS) are known to wet the toilet rim and their buttocks while voiding. This deviation may prevent adopting an ideal toileting position and can thus develop into a functional voiding disorder. Although surgical correction of the urinary stream by a meatotomy is part of standard care in girls with ADUS and lower urinary tract symptoms (LUTS) at our center, little is known about the effect of this procedure on daytime urinary incontinence (DUI). OBJECTIVE: To assess the effect of meatal correction on incontinence in girls with ADUS and DUI, and to find predictors for therapy success. STUDY DESIGN: A retrospective chart study including all girls with ADUS and DUI who underwent a dorsally directed meatal correction at our tertiary referral center between 2005 and 2018 (n = 274). The main outcome measurement was continence according to the International Children's Continence Society criteria, expressed as the percentage of children that were continent at post-surgical follow-up (complete response). Multivariate logistic regression was used to identify predictors of continence. RESULTS: In 93% of girls, the direction of the urinary stream was no longer anterior deflected. 29% (n=79) of all girls were continent at post-surgical follow-up. We could not find a convincing predicting factor for achieving continence. DISCUSSION: Although meatal correction is successful on normalizing the direction of the urinary stream, less than one-third of girls became continent. In addition, we were unable to indicate which girls will profit from this procedure in terms of continence. Since not every girl with ADUS develops incontinence complaints, it may also be questionable whether ADUS and incontinence are directly related. Since other, less invasive and more effective treatment options for DUI are available, meatal correction should therefore be considered a last-resort option in the treatment of pediatric DUI in girls with ADUS. CONCLUSION: Of the 274 girls with ADUS and DUI, 29% did benefit from a meatotomy. No convincing indicator for therapy success could however be found. Therefore, we discourage a meatotomy as standard treatment in girls with ADUS and DUI.


Asunto(s)
Enuresis Diurna , Enfermedades de la Vejiga Urinaria , Incontinencia Urinaria , Niño , Femenino , Humanos , Estudios Retrospectivos , Micción
9.
PLoS One ; 16(3): e0246344, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33667234

RESUMEN

BACKGROUND: Childhood cancer patients often remain uninformed regarding their potential risk of gonadal damage. In our hospital we introduced a five step standard oncofertility care plan for all newly diagnosed female patients aiming to identify, inform and triage 100% of patients and counsel 100% of patients at high risk (HR) of gonadal damage. This observational retrospective study (PEARL study) evaluated the use of this standard oncofertility care plan in the first full year in a national cohort. METHODS: The steps consist of 1)timely (preferably before start of gonadotoxic treatment) identification of all new patients, 2)triage of gonadal damage risk using a standardized gonadal damage risk stratification tool, 3)informing all patients and families, 4)counseling of a selected subset of girls, and 5) fertility preservation including ovarian tissue cryopreservation (OTC) in HR patients using amended Edinburgh criteria. A survey of the medical records of all girls newly diagnosed with cancer the first year (1-1-2019 until 31-12-2019) was conducted. RESULTS: Of 261 girls, 228 (87.4%) were timely identified and triaged. Triage resulted in 151 (66%) low(LR), 32 (14%) intermediate(IR) and 45 (20%) high risk(HR) patients. Ninety-nine families were documented to be timely informed regarding gonadal damage risk. In total, 35 girls (5 LR, 5 IR, 25 HR) were counseled by an oncofertility expert. 16/25 HR patients underwent fertility preservation (1 ovariopexy + OTC, oocyte cryopreservation (1 with and 1 without OTC) and 13 OTC). Fertility preservation did not lead to complications or delay of cancer treatment in any patient. CONCLUSION: We timely identified and triaged most girls (88%) with cancer with a high risk of gonadal damage to be counseled for fertility preservation. We aim to optimize the oncofertility care plan and the standardized gonadal damage risk stratification tool based on this experience and these may be of value to other pediatric oncology centers.


Asunto(s)
Preservación de la Fertilidad/métodos , Neoplasias/diagnóstico , Ovario , Adolescente , Niño , Preescolar , Consejo , Criopreservación , Toma de Decisiones , Femenino , Humanos , Lactante , Recién Nacido , Países Bajos , Estudios Retrospectivos , Triaje
10.
Urology ; 136: 272-277, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31697953

RESUMEN

OBJECTIVE: To assess urological function, sexual function, and quality of life in patients with exstrophy or epispadias. Little is known regarding these outcomes in adult patients; our aim is to determine where improvements are needed for long-term management. METHODS: The study population comprised adult (>18 years) patients. Demographic data were gathered and patients were asked to fill out 4 validated questionnaires: (1) International Consultation on Incontinence Questionnaire urinary incontinence form (ICIQ-UI) regarding continence; (2) International Prostate Symptom Score (IPSS) for men and International Consultation on Incontinence Questionnaire-Female Lower Urinary Tract Symptoms (ICIQ-FLUTS) for women regarding lower urinary tract symptoms; (3) 12-Item Short Form Health Survey regarding quality of life; (4) International Index of Erectile Function for men and Female Sexual Function Index for women regarding sexual function. RESULTS: Seventeen patients were included (9 men and 8 women) with a median age of 36 years (range 19-73). Median score on ICIQ-UI was 5/21. Median IPSS score was 7/35 and median quality of life score was 1 (=pleased). Median scores per domain within ICIQ-FLUTS were 7 for storage, 0 for voiding, and 6 for urinary incontinence with bother scores of 4, 0, and 2.8, respectively. Scores for 12-Item Short Form Health Survey in the study population were comparable with those of the Dutch population, except for Physical Component Summary in women. For sexual function, no difference was found between those in the general population and our participants except for the domain "pain" in Female Sexual Function Index. CONCLUSION: Adult patients with exstrophy or epispadias have a high rate of incontinence and lower urinary tract symptoms with relatively low to some degree of bother. When compared with the general population, quality of life, and sexual function of our patients were more or less similar.


Asunto(s)
Extrofia de la Vejiga/complicaciones , Epispadias/complicaciones , Calidad de Vida , Disfunciones Sexuales Fisiológicas/etiología , Enfermedades Urológicas/etiología , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
11.
Cancers (Basel) ; 12(10)2020 Oct 06.
Artículo en Inglés | MEDLINE | ID: mdl-33036134

RESUMEN

OBJECTIVE: The purpose of this review is to evaluate the outcomes of testis sparing surgery (TSS) and to investigate under which circumstances TSS can be considered a safe treatment option in pediatric patients with testicular tumors. METHODS: A database search was performed in Cochrane, Pubmed, and Embase for studies that focused on TSS as treatment for testicular tumors in the pediatric population, excluding reviews and single case reports. RESULTS: Twenty studies, describing the surgical treatment of 777 patients with testicular tumors, were included in the analysis. The majority of pediatric patients with benign germ cell tumors (GCTs) (mean age: 3.7 years) and sex cord-stromal tumors (SCSTs) (mean age: 6.6 years) were treated with TSS, 61.9% and 61.2%, respectively. No cases of testicular atrophy occurred. Four of the benign GCTs, i.e., three teratomas and one epidermoid cyst, recurred. No cases of recurrence were reported in patients with SCSTs. Of the 243 malignant GCTs (mean age: 4.2 years), only one patient had TSS (0.4%). CONCLUSION: TSS is a safe treatment option for prepubertal patients less than 12 years of age with benign GCTs and low grade SCSTs.

12.
Front Pediatr ; 5: 284, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29312913

RESUMEN

INTRODUCTION: Lower urinary tract symptoms (LUTS) are very common in children. Standard treatments consist of urotherapy, antibiotic prophylaxis, anti-muscarinics, physical therapy, and the treatment of coexisting constipation. A small group of girls also present with stress incontinence or with stress-induced urge incontinence. In cases of persistent LUTS due to congenital bladder neck insufficiency (BNI), surgical treatment might be considered. The aim of this paper is to assess the results of open and laparoscopic colposuspension in children with refractory urinary incontinence (UI). MATERIALS AND METHODS: The results of 18 open and 18 laparoscopic consecutive colposuspensions were analyzed. All patients had UI and failed conservative treatment. BNI was proven by repeated perineal ultrasound and video-urodynamic study. The laparoscopic procedure was performed preperitoneally and the open procedure was via a transverse lower abdominal incision. The same postoperative protocol was used in both groups. RESULTS: The mean operation time was 65 min for the open and 90 min for the lap procedure (p < 0.05). Full success was achieved in 7/18 in the open and in 8/18 in the lap group and partial response was seen in 3/18 and in 5/18, respectively (p = 0.64). No intraoperative complications occurred in this cohort. CONCLUSION: Open and laparoscopic colposuspension can be used to treat refractory UI in children with BNI when non-invasive methods fail.

13.
Urology ; 100: 198-202, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27771423

RESUMEN

OBJECTIVE: To investigate whether children with lower urinary tract (LUT) anomalies are at greater risk for postoperative complications after laparoscopic pyeloplasty stented with a double-J catheter (JJC). MATERIALS AND METHODS: Prospectively collected data of laparoscopic pyeloplasty (LP) performed between 2006 and 2015 were analyzed. Inclusion criteria are (1) toilet-trained child and (2) unilateral dismembered pyeloplasty stented with a JJC done by the same surgeon. Our pyeloplasty protocol includes cystoscopy and retrograde pyelography. JJC is left in for 3weeks. Asymptomatic patients with infravesical LUT anomalies (a-LUTA) and those with history of LUT symptoms (LUTS) were identified. Any short-term complication was classified according to Clavien-Dindo. Fisher's exact test was used for statistical analysis. RESULTS: Fifty-four children (mean 9.8 years) were included. Ten of 54 patients had LUTS. In 4 of those 10, anatomical infravesical anomaly was found during cystoscopy. Accidental urethral anomaly was found in 11 patients (a-LUTA). The control group (CG) consisted of 33 patients. Postoperative hospital stay ranged from 1 to 8 days (mean 2 days). Overall complication rate was 8 of 54 (14%). Grade 1 complications occurred in 3 patients in the CG. Five patients had grade 3 complications (2 needed replacement of bladder catheter, and 3 had diversion of the upper tract). Those problems occurred in 1 of 10 patients with LUTS and 3 of 11 patients with a-LUTA compared to 1 of 33 in the CG. This difference was statistically significant (P < .05). CONCLUSION: Careful history should be taken in toilet-trained children before pyeloplasty. If any infravesical abnormality is discovered, internal diversion should probably be avoided. Special attention must be paid to bladder function in the postoperative period.


Asunto(s)
Pelvis Renal/cirugía , Laparoscopía/efectos adversos , Procedimientos de Cirugía Plástica/efectos adversos , Complicaciones Posoperatorias/epidemiología , Obstrucción Ureteral/cirugía , Anomalías Urogenitales/cirugía , Enfermedades Asintomáticas , Niño , Cistoscopía , Femenino , Humanos , Síntomas del Sistema Urinario Inferior/etiología , Síntomas del Sistema Urinario Inferior/cirugía , Masculino , Stents , Obstrucción Ureteral/etiología , Urografía
14.
Mol Syndromol ; 7(3): 153-9, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27587991

RESUMEN

Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction. Tetraploid/diploid (92,XXYY/46,XY) mosaicism was found in 43/57 and 6/26 metaphases in 2 separate cultures, respectively. Buccal smear cells, blood lymphocytes, and cells from urine sediment all showed diploidy. We investigated whether this chromosomal abnormality could be found in other patients with severe hypospadias and karyotyped genital fibroblasts of 6 additional patients but found only low frequencies (<11%) of tetraploid cells, not statistically different from those found in control males with no hypospadias. This is the first time tetraploid mosaicism is found in such a high percentage in a patient without psychomotor retardation, dysmorphisms or growth delay. Although the relationship between this observed mosaicism in cultured cells and the underlying pathogenetic mechanism in penoscrotal hypospadias remains to be determined, our data clearly illustrate the power of cytogenetic techniques in detecting mosaicism compared to next-generation sequencing techniques, in which DNA pooled from multiple cells is used.

15.
J Laparoendosc Adv Surg Tech A ; 24(7): 513-7, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24844777

RESUMEN

OBJECTIVE: To present the primary results of laparoscopic, Burch-type colposuspension (LBC) in children. PATIENTS AND METHODS: LBC was performed in eight children (mean age, 14 years) with urinary incontinence after failed extensive urotherapy program. In all patients, bladder neck (BN) incompetence was proven by clinical observation, perineal ultrasound (US), and video-urodynamic study (V-UDS). The LBC was performed with patients in the lithotomy position by means of three 5-mm ports. The anterior wall of the vagina, lateral to the BN, was mobilized, and the vaginal wall was bilaterally lifted and sutured to Cooper's ligament, resulting in elevation and fixation of the BN. A catheter was left for 4 days. The mean operation time was 101 minutes (range, 56-150 minutes), and the follow-up time was >6 months. RESULTS: The postoperative period was uneventful for all patients. Shortly after the procedure, 5 patients (62.5%) were dry, and 1 patient improved (12.5%). After 6 months, 3 patients (37.5%) were dry, and 2 (25%) improved. In 3 wet patients, control US and V-UDS focused on the BN revealed hypermobility and persistent flat vesicourethral angle (VUA) in 1 patient, hypermobility with a good restoration of the VUA in 1 patient, and good fixation with good restoration of the VUA in 1 patient. CONCLUSIONS: LBC is a challenging procedure in children because of the small operation field. This procedure can be considered to cure refractory stress urinary incontinence in children with BN insufficiency when noninvasive methods have failed.


Asunto(s)
Laparoscopía/métodos , Incontinencia Urinaria de Esfuerzo/cirugía , Incontinencia Urinaria/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Vagina/cirugía , Adolescente , Niño , Femenino , Humanos , Ligamentos/cirugía , Tempo Operativo , Periodo Posoperatorio , Urodinámica
16.
J Pediatr Urol ; 9(2): 193-8, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22364713

RESUMEN

OBJECTIVE: To assess bladder behaviour and long-term outcome after detrusorectomy in children. MATERIAL AND METHODS: Between 1990 and 2001, 49 detrusorectomies were performed (mean follow-up: 9.6 years) in children with neuropathic bladders (mean age at surgery: 9.8 years). Urodynamic study (UDS) was done before surgery (pre-UDS) and after surgery (UDS-1 and UDS-2). Bladder behaviour was assessed as good, fair or poor depending on the volume and intravesical pressure. In all patients, oxybutynin and clean intermittent catheterization were used preoperatively. In 24 patients, good bladder compliance and capacity were seen before detrusorectomy. RESULTS: Good and fair outcomes were observed in 35 (71%) patients at 1 year and in 39 (79%) patients 6 years after detrusorectomy. In 30 (60%) patients, there was hardly any difference between the first and second follow-up. In 9 (18%) patients, formal bowel bladder augmentation was necessary: in 6 (12%) because of poor compliance and in 3 because of small bladder volume and incontinence. Seven patients improved during follow-up, 5 of them after resuming oxybutynin. In 11 patients, oxybutynin could be stopped, and in 2 the dosage could be reduced to once daily. CONCLUSIONS: The good short-term results of detrusorectomy generally remain unchanged at long-term follow-up. Detrusorectomy can reduce the need for antimuscarinics, and the need for formal bladder augmentation in selected cases.


Asunto(s)
Ácidos Mandélicos/uso terapéutico , Antagonistas Muscarínicos/uso terapéutico , Hipertonía Muscular/tratamiento farmacológico , Hipertonía Muscular/cirugía , Vejiga Urinaria Neurogénica/tratamiento farmacológico , Vejiga Urinaria Neurogénica/cirugía , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Hipertonía Muscular/fisiopatología , Reoperación , Estudios Retrospectivos , Resultado del Tratamiento , Vejiga Urinaria/fisiología , Vejiga Urinaria Neurogénica/fisiopatología , Cateterismo Urinario/métodos , Incontinencia Urinaria/tratamiento farmacológico , Incontinencia Urinaria/fisiopatología , Incontinencia Urinaria/cirugía , Urodinámica , Procedimientos Quirúrgicos Urológicos
17.
J Pediatr Urol ; 9(6 Pt B): 1072-6, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23591180

RESUMEN

OBJECTIVE: To gain insight into the efficacy and safety of urethral de-obstruction in boys with overactive bladder (OAB) complaints refractory to conservative treatment. MATERIALS AND METHODS: All boys, older than 5 years, referred in 2009 for OAB complaints were included, n = 180. Nine had abdominal or penile pain as predominant complaint. 82% were tertiary referrals after unsuccessful conservative treatment with antimuscarinic medication and/or urotherapy for OAB. In 121, urethral obstruction was urodynamically proven or seriously suspected, and they underwent urethrocystoscopy with relief of obstruction, when present. Average duration of unsuccessful conservative pre-treatment in this group of patients was 1.2 years. Postoperative results, in terms of relief of complaints, were analyzed. Safety was assessed by analyzing those patients who had a secondary transurethral procedure in the same year, or in the 3 years after primary treatment. RESULTS: Of 106 boys with OAB, urge incontinence or therapy-resistant bedwetting, after de-obstruction 33 became free of complaints and 39 showed significant improvement, totaling 72 (68%); dry after additional urotherapy 11 (10%); no change 21 (20%). Nine boys had de-obstruction because of penile or abdominal pain, with 5 completely cured after the procedure. Follow-up treatment was cognitive training in 39, temporary anticholinergic treatment in 26 and CIC in 2 cases. Recurrence of obstruction was seen in 10% during the 3-year follow-up period. CONCLUSION: After failure of conservative therapy, one should actively look for any urethral obstruction as underlying cause of OAB. For such patients, urethral de-obstruction is highly effective, with only a few minor late complications resulting in recurrence of obstruction.


Asunto(s)
Uretra/cirugía , Obstrucción Uretral/complicaciones , Obstrucción Uretral/cirugía , Vejiga Urinaria Hiperactiva/etiología , Vejiga Urinaria Hiperactiva/cirugía , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Dolor Abdominal/tratamiento farmacológico , Dolor Abdominal/etiología , Dolor Abdominal/cirugía , Niño , Preescolar , Humanos , Masculino , Antagonistas Muscarínicos/uso terapéutico , Enuresis Nocturna/tratamiento farmacológico , Enuresis Nocturna/etiología , Enuresis Nocturna/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Vejiga Urinaria Hiperactiva/tratamiento farmacológico , Incontinencia Urinaria de Urgencia/tratamiento farmacológico , Incontinencia Urinaria de Urgencia/etiología , Incontinencia Urinaria de Urgencia/cirugía
18.
J Laparoendosc Adv Surg Tech A ; 23(9): 803-7, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23952284

RESUMEN

OBJECTIVE: To assess the results of endoscopic bladder neck procedure on the anterior bladder wall in children. MATERIALS AND METHODS: Surgery is done in the lithotomy position using three 5-mm ports. The bladder is insufflated with CO2. A U-shaped incision is made around the bladder neck. A mucosal strip is tabularized around a 12 French catheter and covered with the second layer of mucosa. Twenty procedures were performed on 18 patients (mean age, 9.8 years), and the follow-up period was >1 year (mean, 34 months). Mean operation time was 149 minutes. Twelve patients had neurogenic lower urinary tract dysfunction. Fifteen patients failed earlier bladder neck surgery, predominantly fascia sling suspension. Preoperatively, all patients had low detrusor leak point pressure. Clean intermittent catheterization (CIC) was resumed through the urethra in 11 patients and through a stoma in 6 patients. RESULTS: Two patients needed conversion because of CO2 leakage. Six patients were dry, and 4 improved in the short term (3-6 months). After 1 year of follow-up, 2 patients were dry, and 6 improved. In the long term, 1 (9%) out of 11 patients who were catheterized through the urethra was dry, and 3 of the 11 patients (27%) improved. Of the 6 patients with a CIC stoma, 1 (17%) was dry, and 3 (50%) improved. CONCLUSIONS: Endoscopic bladder neck surgery is, for most patients, a minor operation, but the long-term results are disappointing. The construction of a continent channel for CIC can improve the outcome when anterior bladder neck plasty is performed.


Asunto(s)
Endoscopía/métodos , Vejiga Urinaria/cirugía , Incontinencia Urinaria/cirugía , Adolescente , Niño , Femenino , Humanos , Masculino , Factores de Riesgo , Resultado del Tratamiento
19.
Urology ; 77(6): 1450-4, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21256576

RESUMEN

OBJECTIVES: To assess the results of secondary endopyelotomies (SEP) that were performed in our center in children who had earlier failed pyeloplasty. METHODS: Eleven secondary endopyelotomies were done between 2005 and 2010 in 10 patients (5 boys and 5 girls, mean age 6.8 years), with a follow-up time of >6 months. The primary procedure was an open/laparoscopic pyeloplasty (n = 10) or a ureterocalicostomy (n = 1). In all cases, endopyelotomy was done by means of a monopolar electrocautery hook using the standard pediatric resectoscope. In 10 patients, SEP was done percutaneously, and in 1 patient it was done in a retrograde fashion. The mean operation time was 69 minutes. RESULTS: After a mean follow-up of 20 months, 70% of patients were free of complaints (n = 7), which was defined as a resolution of complaints, resolution of hydronephrosis, and improvement of renal wash-out curve and function. In 4 renal units, reintervention had to be considered; in one of these, a re-pyeloplasty has already been performed. The mean postoperative hospital stay was 2.8 days. No intraoperative complications occurred. In 1 patient, postoperative leakage around the nephrostomy drain occurred but resolved spontaneously. CONCLUSIONS: SEP is a fairly safe method to treat recurrent ureteropelvic junction-stenosis after failed pyeloplasty in children. However, because it seems to be less affective than the open redo pyeloplasty, it cannot be considered as a gold standard procedure and as such should be thoroughly discussed with the patient and parents.


Asunto(s)
Constricción Patológica/cirugía , Endoscopía/métodos , Laparoscopía/métodos , Obstrucción Ureteral/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Factores de Tiempo , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos/efectos adversos
20.
J Laparoendosc Adv Surg Tech A ; 20(3): 293-6, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19943779

RESUMEN

INTRODUCTION: The aim of this work was to present a new vesicoscopic technique for treatment of sphincter insufficiency and to evaluate the short-term results. MATERIALS AND METHODS: Eight children (mean age, 11.7 years), 4 with non-neurologic and 4 with neurologic sphincter incontinence, were operated on. All had previously failed open surgery. In all, leak-point pressure was below 30 cm H(2)O. Mean follow-up was 5.2 months. In the supine position, three ports were inserted into the bladder under direct visual control. A U-shaped incision was made in the mucosa around the bladder neck, leaving a strip of mucosa on the anterior bladder wall that was tubularized. One lateral mucosal flap was used to cover the tube. A transurethral catheter was left in for 3 weeks. RESULTS: One conversion to open procedure was necessary because of leakage. Mean operation time was 161 minutes (range, 150-194). Postoperative hospital stay was between 2 and 4 days (mean, 2.7). Transurethral clean intermittent catheterization has been resumed in 4 children without complications. Four patients are dry, 2 are sporadically wet but satisfied with the result, and 2 patients are wet. CONCLUSIONS: Vesicoscopic U-bladder neck plasty is a promising procedure. A major advantage of the technique is the fact that it is a relatively minor surgery with excellent cosmetic outcome and quick recovery.


Asunto(s)
Cistoscopía/métodos , Vejiga Urinaria/cirugía , Incontinencia Urinaria/cirugía , Adolescente , Niño , Femenino , Humanos , Masculino , Resultado del Tratamiento , Cateterismo Urinario
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