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The objective was to determine the impact of a single dose of praziquantel on urogenital lesions caused by Schistosoma haematobium. Ultrasound (US) was performed on three age groups of subjects with a positive test for hematuria, with the first examination performed in November 2017 and a follow-up visit 7 months later. None of the subjects had previously received treatment. The participants were categorized into three distinct age groups: group 1 = 1-15 years, group 2 = 15-30 years, and group 3 = ≥ 30 years. A total of 250 people from these three groups underwent screening: 99 in group 1, 90 in group 2, and 61 in group 3, among whom 131 (52.4%) had at least one detectable lesion of the urogenital tract on US. Follow-up US after 7 months was possible in 60%, 67%, and 77% of the respective groups (with lesions). The anomalies disappeared in 80% of individuals in group 1, 76% of those in group 2, and 65% in group 3. With the exception of calcifications, most visible anomalies had been resolved. The total number of anomalies is low. Severe obstructive uropathy was not detected. We can conclude that single treatment with praziquantel is able to cure visible anomalies, with the exception of calcifications. The low rate of anomalies, compared with levels in the literature, is speculated to be due to undetected death by obstructive uropathy caused by S. haematobium. This requires further investigation.
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Anti-Helmínticos , Esquistossomose Urinária , Animais , Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Praziquantel/uso terapêutico , Praziquantel/farmacologia , Schistosoma haematobium , Esquistossomose Urinária/diagnóstico por imagem , Esquistossomose Urinária/tratamento farmacológico , Chade , Hematúria/tratamento farmacológico , Anti-Helmínticos/uso terapêutico , Anti-Helmínticos/farmacologiaRESUMO
This study determined the contribution of a mobile health (M-health) system to the treatment of Schistosoma haematobium in a region of Chad where S. haematobium is endemic. M-health involves the use of a mobile phone for health care. The study compared the prevalence of schistosomiasis in an area with an M-health system, newly installed in 2014, with an area without an adequate health infrastructure. Data were gathered after the M-health system had been running for 3 years. We took urine samples from children age 1 to 15 years, for a total of 200 children in a village in the M-health area and 200 in a village in a non-M-health area. Urine was checked for urinary schistosomiasis by using dipsticks for microhematuria and, in cases of positive dipstick results, microscopy was used to detect eggs. Comparison between the areas allowed us to assess the effectiveness of the installed M-health system after 3 years of operation. Based on dipstick outcomes, the non-M-health area had an infection rate of 51.5% compared with 29% in the M-health area. Microscopy results in non-M-health and M-health were 27.5% and 21%, respectively. The dipstick result difference between M-health and non-M-health areas was statistically significant. Dipsticks were more reliable than microscopy for the detection of schistosomiasis, especially in areas without qualified personnel. Based on these results, M-health proved its ability to reduce the infection rate of urogenital schistosomiasis, and the implementation of M-health shows great promise in areas where this disease is endemic and where no mass drug administration is provided.
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Anti-Helmínticos/uso terapêutico , Praziquantel/uso terapêutico , Schistosoma haematobium , Esquistossomose Urinária/tratamento farmacológico , Esquistossomose Urinária/epidemiologia , Adolescente , Animais , Chade/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Unidades Móveis de SaúdeAssuntos
Apêndice , Cateterismo Uretral Intermitente , Inventores , Apêndice/cirurgia , Cistostomia , Humanos , Cateterismo UrinárioRESUMO
INTRODUCTION: A significant proportion of PUV becomes symptomatic after the perinatal period. Voiding cystourethrography (VCUG) often fails to identify PUVs. This study evaluates the relationship between the radiological appearance of the posterior urethra, potential secondary radiological signs and endoscopically documented PUV in boys with febrile UTIs, VUR, refractory symptoms of bladder overactivity or suggestive sonography findings. PATIENTS AND METHODS: Data on VCUG findings and endoscopy from 92 boys (mean age 27 months) who underwent endoscopic PUV incision between 2012 and 2017 following a VCUG were reviewed. 24 boys with endoscopically unsuspicious urethras were included as control group (mean age 27.5 months). Statistical analysis was performed using Fisher's exact test. RESULTS: In patients with PUV, the urethra was suspicious on a preoperative VCUG in 45.7%, whereas it appeared normal in 54.3%. Abortive forms of PUV were more frequently found in patients with a radiologically unsuspicious urethra (30%vs.16.7%, p = 0.15). Bladder neck hypertrophy on VCUG (16.7%vs.60.9%, OR 7.5, p < 0.001), a trabeculated bladder on VCUG (72%vs.37.5%, OR 4.3, p < 0.001) and a hypertrophied musculus interuretericus (38%vs.4.2%, OR 11.7, p < 0.001) were more common in patients with PUV and urethras appearing normal on VCUG as compared to controls. CONCLUSION: Unsuspicious findings of the urethra on VCUG cannot exclude a relevant PUV and implicate a risk of disregarding abortive forms. The presence of secondary radiologic signs of infravesical obstruction on a VCUG despite an unsuspicious posterior urethra in boys with recurrent UTI's as well as refractory symptoms of bladder overactivity or suggestive signs on sonography must be further clarified endoscopically.
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Cistografia , Endoscopia , Uretra/anormalidades , Uretra/diagnóstico por imagem , Pré-Escolar , Cistografia/métodos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Infecções Urinárias/diagnóstico , Infecções Urinárias/etiologia , MicçãoRESUMO
INTRODUCTION: If children do not experience satisfactory relief of lower urinary tract dysfunction (LUTD) complaints after standard urotherapy is provided, other treatment options need to be explored. To date, little is known about the clinical value of pelvic floor rehabilitation in the treatment of functional voiding disorders. OBJECTIVE: Therefore, we compared pelvic floor rehabilitation by biofeedback with anal balloon expulsion (BABE) to intensive urotherapy in the treatment of children with inadequate pelvic floor control and functional LUTD. STUDY DESIGN: A retrospective chart study was conducted on children with functional incontinence and inadequate pelvic floor control. All children referred for both intensive inpatient urotherapy and pelvic floor rehabilitation between 2010 and 2018 were considered for inclusion. A total of 52 patients were eligible with 25 children in the group who received BABE before inpatient urotherapy, and 27 children in the group who received BABE subsequently to urotherapy. Main outcome measurement was treatment success according to International Children's Continence Society criteria measured after treatment rounds and follow-up. RESULTS: Baseline characteristics demonstrate no major differences between the BABE and control group. There was a significant difference in improvement between BABE and inpatient urotherapy after the first and second round of treatment (round 1: BABE vs urotherapy; 12% vs 70%, respectively, round 2: urotherapy vs BABE; 92% vs 34%, respectively, both P < .001). In both cases, the urotherapy group obtained greater results (Fig. 1). When the additional effect of BABE on urotherapy treatment is assessed, no significant difference is found (P = .355) in the children who received BABE; 30 (58%) showed improvement on pelvic floor control. DISCUSSION: Our findings imply that training pelvic floor control in combination with inpatient urotherapy does not influence treatment effectiveness on incontinence. Intensive urotherapy contains biofeedback by real-time uroflowmetry; children receive direct feedback on their voiding behaviour. Attention offered to the child and achieving cognitive maturity with corresponding behaviour is of paramount importance. It is known that combining several kinds of biofeedback does not enhance the outcome. However, our results do not provide a conclusive answer to the effectiveness of pelvic floor physical therapy in the treatment of children with LUTD because we specifically investigated BABE. CONCLUSION: In this study, we could not prove that pelvic floor rehabilitation by BABE has an additional effect on inpatient urotherapy on incontinence outcomes. Considering the invasive nature of BABE, the use of BABE to obtain continence should therefore be discouraged.
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Biorretroalimentação Psicológica/métodos , Diafragma da Pelve/fisiopatologia , Incontinência Urinária/reabilitação , Micção/fisiologia , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Ultrassonografia , Incontinência Urinária/diagnóstico , Incontinência Urinária/fisiopatologiaRESUMO
OBJECTIVE: The objective of this study is to investigate the coping styles used by patients with hypospadias. Long-term hypospadias studies generally show satisfying outcomes, but some report a lower quality of life (QoL) or poorer psychosocial adjustment, particularly in patients with proximal hypospadias. A lower QoL or psychosocial adjustment was found to be associated with passive coping styles in other pediatric patient populations. Hypothetically, patients with hypospadias also develop different coping styles due to medical experiences in childhood, leading to the lower QoL outcomes on the long term. However, coping styles of patients with hypospadias have never been analyzed. PATIENTS AND METHODS: Adult men with hypospadias repair in childhood were recruited (n = 55; aged 19.9 [IQR 19.2-22.1]). Coping styles were determined with the Utrecht Coping List (UCL) and results compared with a reference group of male students (n = 55, age 20-30 years, no medical history). Sub analysis of coping styles of the hypospadias groups was done based on three items: severity of hypospadias, time of last hypospadias surgery and occurrence of postoperative complications. RESULTS: Compared to the reference groups, patients with hypospadias had higher scores on Avoidance (P < 0.05), particularly patients who had ≥1 postoperative complication or proximal hypospadias. Patients with proximal hypospadias also had lower scores on Seeking Social Support compared to the reference group (P < 0.05). Within the hypospadias group, coping style scores did not differ based on severity of hypospadias, timing of surgery or postoperative complications. CONCLUSION: Patients with hypospadias, particularly those with proximal hypospadias or a postoperative complication, more often use an avoiding coping style compared to a reference population. Attention to coping styles during the follow-up of patients with hypospadias might help to improve the QoL in these patients.
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Adaptação Psicológica , Hipospadia/psicologia , Qualidade de Vida , Adulto , Pré-Escolar , Estudos Transversais , Seguimentos , Humanos , Lactente , Masculino , Medidas de Resultados Relatados pelo Paciente , Prognóstico , Estudos Retrospectivos , Apoio Social , Inquéritos e Questionários , Adulto JovemRESUMO
Daytime urinary incontinence is common in the paediatric population and affects approximately 7-10% of children (aged 5-13 years). Several subtypes of daytime incontinence, which are classified according to their relation to the storage and voiding phases of bladder function, exist. Risk factors for these subtypes of incontinence can be genetic, demographic, environmental, behavioural, or physical. Therefore, treatment is multidisciplinary and needs an adequate diagnosis to be successful. Urotherapy is the first-line treatment for all types of daytime incontinence. It can be defined as bladder re-education or rehabilitation, aiming at correcting the filling and voiding function of the bladder-sphincter unit. Comorbid problems, such as constipation, urinary tract infections, and behavioural problems should also be treated during urotherapy. For comorbidities and severe bladder overactivity, medication might be necessary. Although usually effective, treatment of daytime urinary incontinence in children is often complex and requires patience. Nonetheless, patients and parents are usually motivated for urotherapy, since quality of life is severely reduced in in children with incontinence.
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Enurese , Incontinência Urinária , Adolescente , Criança , Pré-Escolar , Enurese/diagnóstico , Enurese/epidemiologia , Enurese/terapia , Humanos , Incontinência Urinária/diagnóstico , Incontinência Urinária/epidemiologia , Incontinência Urinária/terapiaRESUMO
To evaluate fertility potential after orchidopexy for bilateral undescended testis and compare two surgical fixation techniques for effect on fertility. Men older than 22 years who had either tunica albuginea orchidopexy (TAO) or "no-touch" technique (NTO) in childhood for bilateral undescended testis (BUDT) were selected. Participants filled out a questionnaire followed by physical examination, had testicular ultrasound, blood sample and semen analysis. Statistical testing was performed using general linear modelling. Sixty-seven out of 166 individuals responded. Forty-nine completed the questionnaire, and nine (18.3%) reported having fathered children. Thirty-six showed up for further examination, 26 had TAO and 10 NTO. Impaired hormonal spermatogenesis regulation (34.6% vs. 20%), higher subfertility rate (46% vs. 20%) and lower means of motile spermatozoa (58.1 × 106 spz vs. 177.9 × 106 spz) were observed in the TAO versus the NTO group; none of these were statistically significant. Four (15.4%) of the TAO and two (20%) of the NTO group have azoospermia. Although the operation technique did not have a significant impact on fertility, unfavourable outcomes were more common after surgery involving the tunica albuginea of the testis. Larger sample sizes are needed to ascertain whether the trends favouring the NTO technique are of any significance.
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Criptorquidismo/cirurgia , Fertilidade/fisiologia , Orquidopexia/métodos , Testículo/cirurgia , Adulto , Criptorquidismo/diagnóstico por imagem , Humanos , Masculino , Análise do Sêmen , Motilidade dos Espermatozoides/fisiologia , Testículo/diagnóstico por imagem , Ultrassonografia , Adulto JovemRESUMO
Purpose: Lower urinary tract dysfunction (LUTD) occurs frequently in girls and may display a spinning top urethra (STU) on voiding cysto-urethrogram (VCUG) in case of dysfunctional voiding. A STU presents as a narrowing of the urethra caused by a lack of relaxation of the pelvic floor musculature during micturition and may vary in length between the proximal and the distal urethra. Although a STU has been recognized since 1960 as a pathological entity on VCUG, no reports exist on the different levels of engagement of the pelvic floor muscles to the urethra as expressed by the varying length of the phenomenon. The aim of our study is to demonstrate the wide anatomical variation in the level of engagement of the pelvic floor musculature to the urethra. Materials and Methods: Dynamic ultrasound videos of pelvic floor musculature of 40 girls with LUTD were reassessed by three observers, looking for the level of engagement of the puborectalis muscle (PRM) to the urethra during coughing, Valsalva and hold-up maneuver. Three levels were defined, for the level of engagement of the pelvic floor to the urethra, proximal, mid, and distal. Intra- and inter-rater variability was analyzed using Cohen's kappa statistics. Results: A wide range of points of action was found on the assessed ultrasound videos. Intra- and inter-rater agreement showed different levels of conformity, varying over a wide spectrum (intra-rater kappa 0.145-0.546; inter-rater kappa -0.1030.724). Throughout the assessed videos, all not-corresponding intra-rater observations differed maximal one category. Of the not-corresponding inter-rater observations, 90% differed maximal one category. Conclusion: An anatomical variation in levels of engagement of the PRM to the urethra does exist. The clinical value of this finding, whether the point of engagement influences symptomatology or treatment success of LUTD, is currently being studied.
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OBJECTIVE: To study long-term urinary and sexual function, and cosmetic outcomes in adult patients who underwent single-stage transverse preputial island tube (TPIT) for proximal hypospadias repair in childhood. Long-term data on outcomes of patients with proximal hypospadias with severe coexisting curvature and insufficient urethral plate are scarce, but are necessary to decide which repair technique is most beneficial. PATIENTS, SUBJECTS AND METHODS: Patients with proximal hypospadias operated with TPIT (TPIT Group) were compared to patients with distal hypospadias repair (Distal Group) and to a control group of male medical students (Control Group). Participants completed the International Prostate Symptom Score, the International Index of Erectile Function (IIEF-15), additional non-validated questions, and performed uroflowmetry. Cosmesis was assessed in the patients with hypospadias using the Pediatric Penile Perception Score (PPPS); stretched penile length was also measured. RESULTS: Of the 121 eligible patients with hypospadias, 54 with either TPIT or distal hypospadias repairs participated. The TPIT Group comprised 12 patients (median age of 20.0 years) and the Distal Group comprised 42 patients (median age of 19.6 years). The complication rates were similar, at 8 of the 12 patients in the TPIT Group vs 26/42 (62%) in the Distal Group (P = 0.76). Urinary outcomes were similar in the TPIT, Distal, and the Control (comprised of 148 medical students with a median age of 21.0 years) groups. The TPIT Group had a lower maximum urinary flow rate compared to the Control Group, at 24.1 vs 28.6 mL/s (P < 0.05). IIEF-15 scores were similar in the TPIT, Distal and Control groups, except for 'Orgasmic Function' (7.5 vs 10.0 vs 10.0, respectively; P < 0.01). Although the TPIT Group had a smaller penile length compared to the Distal Group (10.1 vs 12.9 cm, P < 0.01), PPPS outcomes were similar. CONCLUSION: In these TPIT patients, long-term urinary, sexual and cosmetic outcomes were similar to those in patients with distal hypospadias repairs and controls.
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Hipospadia/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Adolescente , Adulto , Criança , Estudos de Coortes , Seguimentos , Humanos , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Comportamento Sexual , Disfunções Sexuais Fisiológicas/etiologia , Inquéritos e Questionários , Resultado do Tratamento , Transtornos Urinários/etiologia , Urodinâmica , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Adulto JovemRESUMO
OBJECTIVE: To compare long-term results of 3 different techniques used to create continent catheterizable channels (CCCs) in children in a single institution. PATIENTS AND METHODS: Data were retrospectively collected from 112 children who had a CCC (appendicovesicostomy [APV], tubularized bladder flap [TBF] or Monti) created between December 1995 and December 2013. Primary outcome was revision-free survival. Secondary outcomes were channel stenosis, incontinence, and false channel requiring revision. Time-to-event survival was analyzed using a Kaplan-Meier survival curve. RESULTS: A total of 117 CCCs were identified with median follow-up of 85 months. Surgical revision was required in 52%, with no significant difference between the different techniques. Major revision was required in 27% of the cases and significantly more often in Monti channels. Complete revision was required in 7%. Stenosis requiring revision was seen in 33%. A false channel was formed in 9% of the cases. Incontinence with a low leak point pressure was seen in 12%. A time-to-event analysis with a Kaplan-Meier curve showed no significant differences between the 3 techniques. CONCLUSION: Although CCC is an effective solution for children who cannot perform urethral catheterization, 52% requires surgical revision. Because no differences were found in outcome between APV, TBF, and Monti, we conclude that a TBF CCC is a good alternative for the APV. If the appendix is not available and bladder volume is sufficient, a TBF channel is preferred to a Monti channel.
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Cateterismo Urinário , Coletores de Urina , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de TempoRESUMO
OBJECTIVE: Superficial bladder neck incision (SBNI) is controversial at young age, with retrograde ejaculation after puberty as main concern. The aim of the study is to investigate the long-term effect of SBNI on ejaculation and incontinence in boys with primary and secondary bladder neck obstruction (BNO). MATERIALS AND METHODS: In boys with infravesical obstruction, SBNI was performed in case of a persistent BNO after earlier desobstruction or in case of primary severely obstructive bladder neck. SBNI was performed with a diathermy hook, always superficially (2-3 mm) and unilaterally at 7 O'clock. Males that had SBNI during childhood after posterior urethral valve incision or relief of other obstruction between 1986 and 2003 were included. Evaluation was done by International Continence Society male sex questionnaire, International Prostate Symptom Score, developmental International Consultation Modular Questionnaire on Urinary Incontinence, frequency volume chart, and uroflowmetry. RESULTS: Of 79 traceable patients, 40 (50.6%) participated. Of these, 37 (92.5%) completed all questionnaires and 28 (70%) performed uroflowmetry. Median age at SBNI was 4.7 years [interquartile range (IQR) 0.6-8.5] and was 19.6 years (IQR 17.3-20.9) at follow-up. All men had antegrade ejaculation, 4/37 (10.8%) reported possibly reduced ejaculatory volume. Eight (22%) had moderate lower urinary tract symptoms and two (5.4%) had moderate incontinence. Median maximum flow rate was 30.1 mL/s (IQR 24.4-42.6). CONCLUSION: SBNI in boys with severe infravesical obstruction can be done safely with preservation of antegrade ejaculation and no additional lower urinary tract dysfunction.
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The aim of this review was to identify etiological environmental factors related to incontinence in children and adults. A variety of etiological environmental factors for the development of incontinence were identified. In children, these encompass stressful life events and trauma, family dysfunction, parental psychopathology, school-related stressors, toilet or "potty" training, fluid consumption habits, housing conditions, and the availability of toilets. In adults, physical exercise, obesity, working conditions, fluid intake, and the availability of toilets play a role. Intervening variables such as hormonal variations due to work shifts have also been identified as influencing the likelihood of incontinence. Current research suggests that environmental factors influence the development of incontinence in children and adults. The interactions between biological factors, the immediate environment, and intervening variables need to be explored in greater detail. Practical solutions to reduce barriers to adequate fluid intake and healthy toileting habits should be implemented in school and work settings.
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Comportamentos Relacionados com a Saúde , Incontinência Urinária/epidemiologia , Incontinência Urinária/etiologia , Adulto , Criança , Análise Fatorial , Feminino , Humanos , Masculino , Obesidade/complicações , Comportamento Sedentário , Apoio SocialRESUMO
AIMS: To assess the long-term effects of two treatment strategies (low threshold endoscopic desobstruction vs. conservative treatment) on urinary incontinence (UI) and urgency-frequency in boys. METHODS: Boys with persistent overactive bladder symptoms treated in two tertiary referral centers between 2006 and 2009 were included. Treatment strategy in center 1 was urethrocystoscopy (UCS) and in case of obstruction urethral desobstruction and in center 2 conservative. The primary outcome was time to being dry during daytime, secondary outcomes were being dry both day and night and presence of urgency-frequency, using the "provisional" International Consultation on Incontinence Questionnaires Children's Lower Urinary Tract Symptoms (LUTS) questionnaire. RESULTS: Median age at start of treatment was 8.0 (IQR 6.4-9.4) years in center 1 and 8.4 (IQR 6.0-10.1) years in center 2. At baseline daytime incontinence was present in 100/104 children (96%, center 1) and 37/44 (84%, center 2). In center 1, UCS was performed in 98 (93%) boys, with desobstruction in 93 (88%), while in center 2 these numbers were 16 (36%), and 5 (11%). There were no differences between groups after a mean follow-up of 5 years concerning dryness at daytime (HR 0.86, 0.56-1.30), dryness day and night (HR 0.72, 0.51-1.14), and presence of urgency-frequency (HR 0.67, 0.38-1.25). CONCLUSIONS: The benefit of a strategy including low-threshold UCS and endoscopic desobstruction in boys with urge incontinence and suspected infravesical obstruction to prevent LUTS and incontinence on the longer term could not be confirmed.
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Tratamento Conservador , Cistoscopia/métodos , Obstrução Uretral/cirurgia , Bexiga Urinária Hiperativa/terapia , Incontinência Urinária/terapia , Criança , Estudos de Coortes , Seguimentos , Humanos , Sintomas do Trato Urinário Inferior/etiologia , Sintomas do Trato Urinário Inferior/terapia , Masculino , Modelos de Riscos Proporcionais , Inquéritos e Questionários , Obstrução Uretral/complicações , Bexiga Urinária Hiperativa/etiologia , Incontinência Urinária/etiologia , Incontinência Urinária de Urgência/diagnósticoRESUMO
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.
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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.
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AIMS: To review studies on the associations of incontinence and special needs in children and adults and to outline future directions in research and clinical care. MATERIALS AND METHODS: A review of literature was conducted. Open questions and future directions were discussed during the ICI-RS meeting in 2014. RESULTS: Special needs comprise a wide variety of conditions and disabilities. Individuals with special needs carry a greater risk for all types of incontinence. There is a high tendency for incontinence to persist from childhood into adulthood. Many people do not receive adequate medical care for their incontinence. CONCLUSIONS: More detailed research is needed, especially in the adult population with special needs. Assessment and treatment of incontinence should be offered routinely to all those with special needs.
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Atenção à Saúde , Crianças com Deficiência , Pessoas com Deficiência , Incontinência Fecal/terapia , Incontinência Urinária/terapia , Adolescente , Adulto , Criança , Congressos como Assunto , Incontinência Fecal/diagnóstico , Incontinência Fecal/fisiopatologia , Incontinência Fecal/psicologia , Feminino , Humanos , Masculino , Transição para Assistência do Adulto , Incontinência Urinária/diagnóstico , Incontinência Urinária/fisiopatologia , Incontinência Urinária/psicologia , Adulto JovemRESUMO
The leading cause of end-stage renal disease in children is attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Familial clustering and mouse models support the presence of monogenic causes. Genetic testing is insufficient as it mainly focuses on HNF1B and PAX2 mutations that are thought to explain CAKUT in 515% of patients. To identify novel, potentially pathogenic variants in additional genes, we designed a panel of genes identified from studies on familial forms of isolated or syndromic CAKUT and genes suggested by in vitro and in vivo CAKUT models. The coding exons of 208 genes were analyzed in 453 patients with CAKUT using next-generation sequencing. Rare truncating, splice-site variants, and non-synonymous variants, predicted to be deleterious and conserved, were prioritized as the most promising variants to have an effect on CAKUT. Previously reported disease-causing mutations were detected, but only five were fully penetrant causal mutations that improved diagnosis. We prioritized 148 candidate variants in 151 patients, found in 82 genes, for follow-up studies. Using a burden test, no significant excess of rare variants in any of the genes in our cohort compared with controls was found. Thus, in a study representing the largest set of genes analyzed in CAKUT patients to date, the contribution of previously implicated genes to CAKUT risk was significantly smaller than expected, and the disease may be more complex than previously assumed.