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1.
Genet Med ; 25(3): 100344, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36729052

RESUMEN

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.


Asunto(s)
Síndrome de DiGeorge , Adulto , Humanos , Relevancia Clínica , Consenso , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Asesoramiento Genético , Encuestas y Cuestionarios
2.
Genet Med ; 25(3): 100338, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36729053

RESUMEN

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.


Asunto(s)
Síndrome de DiGeorge , Adolescente , Humanos , Niño , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Asesoramiento Genético , Encuestas y Cuestionarios
3.
J Neurosci ; 41(34): 7314-7325, 2021 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-34193553

RESUMEN

Lower urinary tract or voiding disorders are prevalent across all ages and affect >40% of adults over 40 years old, leading to decreased quality of life and high health care costs. The pontine micturition center (PMC; i.e., Barrington's nucleus) contains a large population of neurons that localize the stress-related neuropeptide, corticotropin-releasing hormone (CRH) and project to neurons in the spinal cord to regulate micturition. How the PMC and CRH-expressing neurons in the PMC control volitional micturition is of critical importance for human voiding disorders. To investigate the specific role of CRH in the PMC, neurons in the PMC-expressing CRH were optogenetically activated during in vivo cystometry in unanesthetized mice of either sex. Optogenetic activation of CRH-PMC neurons led to increased intermicturition interval and voided volume, similar to the altered voiding phenotype produced by social stress. Female mice showed a significantly more pronounced phenotype change compared with male mice. These effects were eliminated by CRH-receptor 1 antagonist pretreatment. Optogenetic inhibition of CRH-PMC neurons led to an altered voiding phenotype characterized by more frequent voids and smaller voided volumes. Last, in a cyclophosphamide cystitis model of bladder overactivity, optogenetic activation of CRH-PMC neurons returned the voiding pattern to normal. Collectively, our findings demonstrate that CRH from PMC spinal-projecting neurons has an inhibitory function on micturition and is a potential therapeutic target for human disease states, such as voiding postponement, urinary retention, and underactive or overactive bladder.SIGNIFICANCE STATEMENT The pontine micturition center (PMC), which is a major regulator of volitional micturition, is neurochemically heterogeneous, and excitatory neurotransmission derived from PMC neurons is thought to mediate the micturition reflex. In the present study, using optogenetic manipulation of CRH-containing neurons in double-transgenic mice, we demonstrate that CRH, which is prominent in PMC-spinal projections, has an inhibitory function on volitional micturition. Moreover, engaging this inhibitory function of CRH can ameliorate bladder hyperexcitability induced by cyclophosphamide in a model of cystitis. The data underscore CRH as a novel target for the treatment of voiding dysfunctions, which are highly prevalent disease processes in children and adults.


Asunto(s)
Núcleo de Barrington/fisiología , Hormona Liberadora de Corticotropina/metabolismo , Micción/fisiología , Vías Aferentes/fisiología , Animales , Proteínas Arqueales/genética , Núcleo de Barrington/citología , Channelrhodopsins/genética , Hormona Liberadora de Corticotropina/genética , Ciclofosfamida/toxicidad , Cistitis/inducido químicamente , Cistitis/tratamiento farmacológico , Cistitis/fisiopatología , Femenino , Genes Reporteros/efectos de la radiación , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Neuronas/fisiología , Optogenética , Fotoquímica , Proteínas Recombinantes/genética , Médula Espinal/fisiología , Urodinámica , Volición
4.
J Urol ; 205(3): 888-894, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33026928

RESUMEN

PURPOSE: The risk factors for future infertility in adolescents with varicocele are controversial, and little is known about the association between hormone levels and semen parameters. Semen analysis is likely the closest marker of fertility but may be difficult to obtain in some boys secondary to personal, familial or religious reasons. Identifying other clinical surrogates for abnormal semen parameters may offer an alternative for assessing varicocele severity in these boys. We hypothesized that hormone levels and total testicular volume are predictive of abnormal total motile sperm count. MATERIALS AND METHODS: We retrospectively reviewed Tanner 5 boys with palpable left varicoceles who underwent a semen analysis and had serum hormone levels tested (luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-müllerian hormone and/or total testosterone) within a 6-month period. Total testicular volume was also calculated. Abnormal total motile sperm count was defined as <9 million sperm per ejaculate. RESULTS: A total of 78 boys (median age 17.2 years, IQR 16.5-18.0) were included. Luteinizing hormone, anti-müllerian hormone and total testosterone were not correlated with any semen analysis parameter. There was a negative correlation between follicle-stimulating hormone and total motile sperm count (ρ -0.35, p=0.004) and positive correlation between inhibin B and total motile sperm count (ρ 0.50, p <0.001). Total testicular volume was significantly positively correlated with total motile sperm count (ρ 0.35, p=0.01). ROC analyses revealed an optimal follicle-stimulating hormone cutoff of 2.9, an optimal inhibin B cutoff of 204 and an optimal total testicular volume cutoff of 34.4 cc to predict abnormal total motile sperm count. CONCLUSIONS: Total motile sperm count is inversely associated with follicle-stimulating hormone levels, and directly associated with inhibin B levels and total testicular volume. Optimized cutoffs for serum follicle-stimulating hormone, inhibin B and total testicular volume may prove to be reasonable surrogates for total motile sperm count in boys who defer semen analysis for personal or religious/cultural reasons.


Asunto(s)
Recuento de Espermatozoides , Motilidad Espermática , Testículo/anatomía & histología , Varicocele/complicaciones , Adolescente , Hormona Antimülleriana/sangre , Hormona Folículo Estimulante/sangre , Humanos , Inhibinas/sangre , Hormona Luteinizante/sangre , Masculino , Estudios Retrospectivos , Testosterona/sangre
5.
Am J Med Genet A ; 179(3): 381-385, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30582277

RESUMEN

The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Genitourinary tract abnormalities have been noted to be present in up to 30-40% of patients. At our institution, an internationally recognized, comprehensive, and multidisciplinary 22q11.2DS care center has been providing care to these children. We sought to report on the incidence of genitourinary tract anomalies in this large cohort and, therefore, retrospectively reviewed all patients who underwent a complete evaluation from 1992 to March 2017. We identified all children with any genital or urinary tract anomaly. For all children with a diagnosis of hydronephrosis, the underlying etiology was determined, when possible. Overall, 1,073 of 1,267 children with 22q11.2DS underwent renal evaluations at our institution. Hundered Sixty-Two (15.1%) children had structural abnormalities of their kidneys/urinary tracts. The majority of children with hydronephrosis (63%) had isolated upper tract dilation without any additional diagnoses. Boys were significantly more likely to be diagnosed with a genital abnormality than girls (7.7 vs. 0.5%, p < 0.001). Of the 649 boys in the entire cohort, 24 (3.7%) had cryptorchidism and 24 (3.7%) had hypospadias, which was noted to be mild in all except one boy. Overall, findings of hydronephrosis, unilateral renal agenesis, and multicystic dysplastic kidney occur at higher rates than expected in the general population. Given these findings, in addition to routine physical examination, we believe that all patients with 22q11.2DS warrant screening RBUS at time of diagnosis.


Asunto(s)
Síndrome de DiGeorge/diagnóstico , Estudios de Asociación Genética , Fenotipo , Anomalías Urogenitales/diagnóstico , Niño , Preescolar , Síndrome de DiGeorge/epidemiología , Femenino , Sitios Genéticos , Humanos , Lactante , Masculino , Prevalencia , Estudios Retrospectivos
6.
Curr Urol Rep ; 19(5): 34, 2018 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-29623450

RESUMEN

PURPOSE OF REVIEW: The symptoms of lower urinary tract dysfunction (LUTD) including urinary incontinence, frequency, and urgency are among the most common reasons children are referred to pediatric urologists. Despite this, the workup for LUTD is often time consuming and a source of frustration for patients, parents, and clinicians alike. In the current review, we summarize the important role non-invasive testing plays in the diagnosis and management of children with LUTD and to show how use of these tests can help avoid the need for more invasive testing in the majority of children. RECENT FINDINGS: Non-invasive tests such urine studies, uroflowmetry ± simultaneous electromyography, assessment of post-void residual, renal/bladder ultrasound, and pelvic ultrasound when used appropriately can provide valuable information to facilitate decision making during the evaluation of children with LUTD. While these tests should be employed prior to more invasive testing such as urodynamic studies, they can often act as a surrogate for the more invasive tests. Non-invasive tests can help us in our goal of improving diagnostic ability to better classify the child's LUTD into an actual condition which allows targeted treatment in the hope of better outcomes and more satisfied patients and families.


Asunto(s)
Síntomas del Sistema Urinario Inferior/diagnóstico , Síntomas del Sistema Urinario Inferior/etiología , Enfermedades Urológicas/diagnóstico , Niño , Técnicas de Diagnóstico Urológico , Electromiografía , Humanos , Riñón/diagnóstico por imagen , Síntomas del Sistema Urinario Inferior/fisiopatología , Pelvis/diagnóstico por imagen , Reología , Ultrasonografía , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/fisiopatología , Urodinámica , Enfermedades Urológicas/etiología , Enfermedades Urológicas/fisiopatología
7.
Curr Urol Rep ; 19(6): 42, 2018 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-29667065

RESUMEN

PURPOSE OF REVIEW: In this review, we summarize research that has evaluated the role of laparoendoscopic single-site (LESS) and robotic surgery in pediatric urology, highlighting new and/or controversial ideas. RECENT FINDINGS: The newest research developments over the last several years are studies that address generalizability of these techniques, ideal patient factors, extrapolation to more complex surgeries, and comparative studies to more traditional techniques to define the associated costs and benefits, as well as patient-centered outcomes. Specifically in the field of LESS, addressing the limitations of suboptimal vision, instrument crowding, and loss of triangulation have been a focus. The literature is now replete with new applications for robotic surgery as well as descriptions of the specific technical challenges inherent to pediatrics. Robotic surgery and LESS are areas of growth in pediatric urology that allow continual innovation and expansion of technology within a surgeon's armamentarium.


Asunto(s)
Laparoscopía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Enfermedades Urológicas/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Niño , Humanos
8.
Curr Urol Rep ; 18(3): 22, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28233230

RESUMEN

Pediatric urolithiasis is on the rise globally and incidence rates have risen by 6-10% annually over the past couple of decades. Given the increasing incidence, high likelihood of recurrence, and long life expectancy of children, the use of ionizing radiation in the diagnosis, management, and follow up of pediatric urolithiasis has been scrutinized recently and many institutions and organizations have emphasized the use of non-ionizing imaging modality such as ultrasound. This review examines the use of ultrasound in the diagnosis and treatment of pediatric urolithiasis. Specifically, the role of ultrasound in shockwave lithotripsy, percutaneous nephrolithotomy, and, more recently, ureteroscopy will be examined.


Asunto(s)
Cálculos Renales/diagnóstico por imagen , Ultrasonografía , Humanos , Cálculos Renales/cirugía , Recurrencia , Factores de Riesgo , Urolitiasis/diagnóstico por imagen , Urolitiasis/etiología , Urolitiasis/cirugía
10.
Curr Urol Rep ; 15(5): 402, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24658829

RESUMEN

Minimally invasive laparoscopic procedures for urological diseases in children have proven to be safe and effective, with outcomes comparable to open procedures. Technical advances, including improved instruments and high-definition cameras, have contributed to the expanded role of minimal invasive surgery (MIS) in children. The major drawback to laparoscopy has been the relatively steep learning curve due to the technical difficulties of suturing and the limitations of instrument dexterity and range of motion. Recently, robotic-assisted laparoscopic surgery (RAS) has gained popularity in both adult and pediatric urology. RAS has several advantages over conventional laparoscopic surgery, particularly in the improved exposure via magnified 3-dimensional view and simplification of suturing with the increased degree of freedom and movement of the robotic arm. This review discusses the role of RAS in pediatric urology and provides technical aspects of RAS in specific urologic procedures as well.


Asunto(s)
Robótica , Cirugía Asistida por Computador , Enfermedades Urológicas/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Urología/métodos , Niño , Humanos
11.
J Pediatr Urol ; 2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38845245

RESUMEN

INTRODUCTION: Bladder dysfunction, or more specifically lower urinary tract dysfunction (LUTD), remains a common reason for pediatric urology consultation, and the management of these patients is time consuming and frustrating for patients, families and providers alike. But what happens when the patient proves refractory to current treatment modalities? Is there a role for the use of videourodynamics (VUDS) to help guide therapy in the patient with refractory voiding dysfunction, and if so how might we select patients for this invasive study in order to increase the yield of useful information? OBJECTIVES: To determine the role, if any, for VUDS in the evaluation of pediatric patients with refractory LUTD and to identify parameters that might be used to select patients for this invasive study in order to increase the yield of useful information. STUDY DESIGN: Through our IRB-approved prospectively maintained urodynamics database, we retrospectively identified 110 patients with non-neurogenic LUTD over a period from 2015 to 2022 who underwent VUDS. We excluded patients with known neurologic or anatomic lesions and developmental delay. RESULTS: There were 76 females and 34 males (69%/31%) and their average age at the time of the study was 10.5 years ± 4 with a median age of 7.3 years. Patients had been followed for a mean of 5.9 ± 3.5 office visits prior to obtaining the VUDS and reported a mean Dysfunction Voiding and Incontinence Symptom Score (DVISS) of 15.6 ± 6.7 before the VUDS. VUDS resulted in a change in management in 86 of these 110 patients (78%). Management changes included a change in medication (53/110), consideration of CIC (11/110), PTENS (1/110) and surgery (14/110). As shown in the Figure, the DVISS score was significantly higher and the number of office visits prior to VUDS was significantly higher in the 86 patients whose management was changed versus the 24 patients in whom management did not change (P < 0.02). CONCLUSION: This retrospective analysis suggests that criteria for selecting these patients include: 1) long standing urinary incontinence that is refractory to biofeedback and medications, 2) ≥6 visits to LUTD clinic with no improvement, and 3) LUT symptom score of ≥16. Our findings suggest these criteria identify a cohort of patients in which a VUDS evaluation for the child with refractory LUTD can offer a more exact diagnosis that can shape management.

12.
J Urol ; 189(6): 2282-6, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23313197

RESUMEN

PURPOSE: Noninvasive uroflow with simultaneous electromyography can measure electromyographic lag time, ie the interval between the start of pelvic floor relaxation and the start of urine flow (normally 2 to 6 seconds). Intuitively one would expect that in patients experiencing urgency secondary to detrusor overactivity the lag time would be short or even a negative value. We studied whether short electromyographic lag time on uroflow with electromyography actually correlates with documented detrusor overactivity on urodynamics. MATERIALS AND METHODS: We reviewed 2 separate and distinct cohorts of 50 neurologically and anatomically normal children with persistent lower urinary tract symptoms who were evaluated by uroflow with simultaneous electromyography and videourodynamics. Group 1 consisted of 30 boys and 20 girls (mean age 7.8 years, range 4 to 19) selected based on electromyographic lag time of 0 seconds or less on screening uroflow with electromyography who subsequently underwent videourodynamics. Group 2 consisted of 14 boys and 36 girls (median age 8.4 years, range 5 to 18) selected based on the presence of detrusor overactivity on videourodynamics whose screening uroflow with electromyography was then reviewed. Correlations between short electromyographic lag time and videourodynamically proved detrusor overactivity were analyzed. RESULTS: For group 1 urodynamics confirmed the presence of detrusor overactivity in all patients with an electromyographic lag time of 0 seconds or less. For group 2 mean ± SD electromyographic lag time was 0.1 ± 1.7 seconds, and 35 patients (70%) with urodynamically proved detrusor overactivity had a lag time of 0 seconds or less. CONCLUSIONS: In patients with lower urinary tract symptoms an electromyographic lag time of 0 seconds or less is 100% predictive of detrusor overactivity. This short electromyographic lag time has 100% specificity and 70% sensitivity for diagnosing detrusor overactivity (88% if less than 2 seconds). Thus, diagnosing the presence or absence of detrusor overactivity in most children with lower urinary tract symptoms and a quiet pelvic floor during voiding can be done reliably via uroflow with simultaneous electromyography.


Asunto(s)
Electromiografía/métodos , Síntomas del Sistema Urinario Inferior/diagnóstico , Conducción Nerviosa/fisiología , Vejiga Urinaria Hiperactiva/diagnóstico , Adolescente , Factores de Edad , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino , Medición de Riesgo , Sensibilidad y Especificidad , Factores Sexuales , Urodinámica , Grabación en Video , Adulto Joven
13.
J Urol ; 189(5): 1897-901, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23154205

RESUMEN

PURPOSE: Part of the management of adolescent varicocele is trying to prognosticate who with testicular asymmetry will have catch-up growth with observation and who will have persistent asymmetry. We previously reported that catch-up growth is rare when peak retrograde flow greater than 38 cm per second is associated with 20% or greater asymmetry (ie the 20/38 harbinger). We sought to determine if this 20/38 cutoff held true with a larger series, and what peak retrograde flow value should be used when 15% instead of 20% asymmetry is chosen as the cutoff. MATERIALS AND METHODS: We analyzed patients from our large varicocele registry who had undergone at least 2 duplex Doppler ultrasounds and had been observed for at least 10 months in the interim. Outcomes were determined regarding those who met the 20/38 cutoff and what peak retrograde flow value could be used to recommend surgery when 15% to 19.9% asymmetry was included in the cutoff value. RESULTS: Of 355 adolescent boys with left varicocele 44 (mean age 14.0 years, range 9 to 20) were followed with observation initially and met the 20/38 cutoff, while 9 additional patients met the 15/38 cutoff (initial asymmetry 15% to 19.9%). When combining both groups, only 3 boys had catch-up growth to less than 15% on followup. Thus, 50 of 53 patients did not demonstrate catch-up growth after a mean followup of 15.5 months (range 10 to 44). CONCLUSIONS: Not only does a peak retrograde flow of greater than 38 cm per second hold up for predicting persistent/worsening asymmetry when combined with a 20% asymmetry cutoff, it also is an excellent predictor of persistent and/or worsening asymmetry when combined with a 15% asymmetry cutoff. Therefore, it might be unnecessary to follow an adolescent boy with observation who is at or above this 15/38 cutoff.


Asunto(s)
Testículo/anomalías , Testículo/crecimiento & desarrollo , Adolescente , Niño , Humanos , Masculino , Pronóstico , Flujo Sanguíneo Regional , Estudios Retrospectivos , Testículo/irrigación sanguínea , Varicocele , Adulto Joven
14.
J Urol ; 190(3): 1015-20, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23545098

RESUMEN

PURPOSE: It is recognized that there is a strong association between bladder and bowel dysfunction. We determined the association of constipation and/or encopresis with specific lower urinary tract conditions. MATERIALS AND METHODS: We reviewed our database of children with lower urinary tract dysfunction and divided cases into 3 categories of bowel dysfunction (constipation, encopresis and constipation plus encopresis) and 4 lower urinary tract conditions (dysfunctional voiding, idiopathic detrusor overactivity disorder, detrusor underutilization disorder and primary bladder neck dysfunction). Associations between bowel dysfunction types and each lower urinary tract condition were determined. RESULTS: Of 163 males and 205 females with a mean age of 8.5 years constipation was the most common bowel dysfunction (27%). Although encopresis is generally thought to reflect underlying constipation, only half of children with encopresis in this series had constipation. Dysfunctional voiding was associated with the highest incidence of bowel dysfunction. All but 1 patient with encopresis had associated urgency and detrusor overactivity, and the encopresis resolved in 75% of patients after initiation of anticholinergic therapy. Constipation was significantly more common in girls (27%) than in boys (11%, p <0.01), while encopresis was more common in boys (9%) than in girls (3%, p = 0.02), likely reflecting the higher incidence of dysfunctional voiding in girls and idiopathic detrusor overactivity disorder in boys. CONCLUSIONS: Active bowel dysfunction was seen in half of the children with a lower urinary tract condition. Constipation was more common in patients with dysfunctional voiding, while encopresis was significantly increased in those with idiopathic detrusor overactivity disorder and in those with dysfunctional voiding, severe urgency and detrusor overactivity. Anticholinergics, despite their constipating effect, given for treatment of detrusor overactivity resolved encopresis in most children with this bowel dysfunction.


Asunto(s)
Estreñimiento/epidemiología , Encopresis/epidemiología , Síntomas del Sistema Urinario Inferior/epidemiología , Adolescente , Distribución por Edad , Niño , Preescolar , Estudios de Cohortes , Comorbilidad , Estreñimiento/fisiopatología , Bases de Datos Factuales , Electromiografía/métodos , Encopresis/fisiopatología , Femenino , Humanos , Incidencia , Síntomas del Sistema Urinario Inferior/fisiopatología , Masculino , Pronóstico , Calidad de Vida , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Distribución por Sexo , Síndrome , Obstrucción del Cuello de la Vejiga Urinaria/epidemiología , Obstrucción del Cuello de la Vejiga Urinaria/fisiopatología , Vejiga Urinaria Hiperactiva/epidemiología , Vejiga Urinaria Hiperactiva/fisiopatología , Infecciones Urinarias/epidemiología , Infecciones Urinarias/fisiopatología
15.
J Urol ; 190(4 Suppl): 1495-9, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23416636

RESUMEN

PURPOSE: Lower urinary tract dysfunction is a common pediatric urological problem that is often associated with urinary tract infection. We determined the prevalence of a urinary tract infection history in children with lower urinary tract dysfunction and its association, if any, with gender, bowel dysfunction, vesicoureteral reflux and specific lower urinary tract conditions. MATERIALS AND METHODS: We retrospectively reviewed the charts of children diagnosed with and treated for lower urinary tract dysfunction, noting a history of urinary tract infection with or without fever, gender, bowel dysfunction and vesicoureteral reflux in association with specific lower urinary tract conditions. RESULTS: Of the 257 boys and 366 girls with a mean age of 9.1 years 207 (33%) had a urinary tract infection history, including 88 with at least 1 febrile infection. A total of 64 patients underwent voiding cystourethrogram/videourodynamics, which revealed reflux in 44 (69%). In 119 of the 207 patients all infections were afebrile and 18 underwent voiding cystourethrogram/videourodynamics, which revealed reflux in 5 (28%). A urinary tract infection history was noted in 53% of girls but only 5% of boys (p <0.001). Patients with detrusor underutilization disorder were statistically more likely to present with an infection history than patients with idiopathic detrusor overactivity disorder or primary bladder neck dysfunction (each p <0.01). CONCLUSIONS: Females with lower urinary tract dysfunction have a much higher urinary tract infection incidence than males. This association was most often noted for lower urinary tract conditions in which urinary stasis occurs, including detrusor underutilization disorder and dysfunctional voiding. Reflux was found in most girls with a history of febrile infections. Since reflux was identified in more than a quarter of girls with only afebrile infections who were evaluated for reflux, it may be reasonable to perform voiding cystourethrogram or videourodynamics in some of them to identify reflux.


Asunto(s)
Vejiga Urinaria/fisiopatología , Infecciones Urinarias/epidemiología , Trastornos Urinarios/complicaciones , Urodinámica , Reflujo Vesicoureteral/epidemiología , Niño , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , New York/epidemiología , Prevalencia , Estudios Retrospectivos , Encuestas y Cuestionarios , Infecciones Urinarias/etiología , Infecciones Urinarias/fisiopatología , Trastornos Urinarios/diagnóstico , Trastornos Urinarios/fisiopatología , Urografía , Reflujo Vesicoureteral/etiología , Reflujo Vesicoureteral/fisiopatología
16.
J Urol ; 190(3): 1028-32, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23473909

RESUMEN

PURPOSE: There is a known association between nonneurogenic lower urinary tract conditions and vesicoureteral reflux. Whether reflux is secondary to the lower urinary tract condition or coincidental is controversial. We determined the rate of reflux resolution in patients with lower urinary tract dysfunction using targeted treatment for the underlying condition. MATERIALS AND METHODS: Patients diagnosed and treated for a lower urinary tract condition who had concomitant vesicoureteral reflux at or near the time of diagnosis were included. Patients underwent targeted treatment and antibiotic prophylaxis, and reflux was monitored with voiding cystourethrography or videourodynamics. RESULTS: Vesicoureteral reflux was identified in 58 ureters in 36 females and 5 males with a mean age of 6.2 years. After a mean of 3.1 years of treatment reflux resolved with targeted treatment in 26 of 58 ureters (45%). All of these patients had a history of urinary tract infections before starting targeted treatment. Resolution rates of vesicoureteral reflux were similar for all reflux grades. Resolution or significant improvement of reflux was greater in the ureters of patients with dysfunctional voiding (70%) compared to those with idiopathic detrusor overactivity disorder (38%) or detrusor underutilization (40%). CONCLUSIONS: Vesicoureteral reflux associated with lower urinary tract conditions resolved with targeted treatment and antibiotic prophylaxis in 45% of ureters. Unlike the resolution rates reported in patients with reflux without a coexisting lower urinary tract condition, we found that there were no differences in resolution rates among grades I to V reflux in patients with lower urinary tract conditions. Patients with dysfunctional voiding had the most improvement and greatest resolution of reflux. Additionally grade V reflux resolved in some patients.


Asunto(s)
Profilaxis Antibiótica , Antagonistas Colinérgicos/uso terapéutico , Sistemas de Liberación de Medicamentos/métodos , Síntomas del Sistema Urinario Inferior/tratamiento farmacológico , Reflujo Vesicoureteral/tratamiento farmacológico , Distribución de Chi-Cuadrado , Niño , Preescolar , Estudios de Cohortes , Bases de Datos Factuales , Femenino , Estudios de Seguimiento , Humanos , Síntomas del Sistema Urinario Inferior/diagnóstico , Masculino , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Resultado del Tratamiento , Infecciones Urinarias/diagnóstico , Infecciones Urinarias/tratamiento farmacológico , Trastornos Urinarios/diagnóstico , Trastornos Urinarios/tratamiento farmacológico , Urodinámica , Reflujo Vesicoureteral/diagnóstico
17.
J Urol ; 190(2): 689-95, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23473906

RESUMEN

PURPOSE: Varying incidences and levels of persistent retrograde venous flow have been reported following adult and adolescent varicocelectomy but the significance remains unclear. We sought to determine the incidence and natural history of persistent flow and whether it had any effect on postoperative testicular catch-up growth. MATERIALS AND METHODS: We retrospectively analyzed pre-varicocelectomy and post-varicocelectomy Doppler duplex ultrasound findings. Peak retrograde venous flow, maximum vein diameter, flow quality and varicocele grade were recorded at each visit. Catch-up growth was defined as less than 15% testicular asymmetry at final visit. RESULTS: Of 330 patients (median age 15.4 years) undergoing varicocelectomy (laparoscopic in 247, open in 83) 145 had residual retrograde venous flow after Valsalva maneuver with a mean peak of 13.3 cm per second. Of 290 patients with repeat Doppler duplex ultrasound (median followup 2.6 years) 124 had initial peak retrograde venous flow less than 20 cm per second (43%) and only 17 (6%) had flow 20 cm per second or greater. Incidence of post-varicocelectomy retrograde venous flow at last visit (48%) was similar to that at initial postoperative visit (49%). Of 330 boys 20 had recurrence of palpable varicocele (grade 2 or 3), of whom 18 (90%) had initial retrograde venous flow. Catch-up growth was more likely in patients with no retrograde venous flow, and rates of catch-up growth decreased as peak retrograde venous flow increased. All 5 patients with initial testicular asymmetry and persistent retrograde venous flow at levels greater than 30 cm per second had continued testicular asymmetry (ie none had catch-up growth). CONCLUSIONS: Retrograde venous flow is frequently present after varicocelectomy and is almost always associated with peak retrograde venous flow rates significantly lower than those seen in patients who are recommended for initial varicocelectomy. Retrograde venous flow tends to persist during followup at stable peak retrograde venous flow rates. Palpable recurrence and persistent testicular asymmetry are most often associated with postoperative peak retrograde venous flow rates 20 cm per second or greater.


Asunto(s)
Testículo/irrigación sanguínea , Testículo/crecimiento & desarrollo , Ultrasonografía Doppler Dúplex , Varicocele/cirugía , Adolescente , Distribución de Chi-Cuadrado , Niño , Humanos , Incidencia , Laparoscopía , Masculino , Estudios Retrospectivos , Testículo/diagnóstico por imagen , Maniobra de Valsalva , Varicocele/diagnóstico por imagen
18.
Curr Urol Rep ; 14(4): 373-8, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23657821

RESUMEN

Robotic actuators have revolutionized surgery for urologic disorders in pediatric patients. Robotic procedures have become widely available for several different ablative and reconstructive operations in children. The success rates have paralleled those of open surgical techniques and provide the benefit of smaller incisions and less manipulation of tissue during the procedures. Robotics employs increased dexterity, better visualization, and less fatigue, allowing greater precision. We must continue to evolve with the ever-changing advancements in technology and take a keen interest in maintaining our skills to ensure excellent outcomes and patient safety.


Asunto(s)
Riñón/cirugía , Robótica , Uréter/cirugía , Enfermedades Urológicas/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Niño , Humanos , Laparoscopía/métodos , Nefrectomía , Ureteroscopía
19.
J Pediatr Urol ; 19(5): 542.e1-542.e7, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37537092

RESUMEN

INTRODUCTION: Non-neurogenic lower urinary tract dysfunction (LUTD) is one of the most common reasons for presentation to a pediatric urologist, affecting up to 20% of children. Predicting who will benefit from RBUS as part of their work-up is challenging as the majority will have normal imaging. OBJECTIVE: Our objective was to assess the utility of using the Dysfunctional Voiding and Incontinence Scoring System (DVISS) and urinary tract infection (UTI) history to predict which LUTD patients were most likely to have an abnormal RBUS as well as determine a DVISS cutoff to aid in making this prediction. We hypothesized that higher DVISS scores and a positive urinary tract infection (UTI) history would be associated with increased likelihood of RBUS abnormality. STUDY DESIGN: We retrospectively reviewed outpatients seen for LUTD from 5/2014-1/2016 who received an RBUS. Association between prior UTI, DVISS score, gender, and race and RBUS abnormality were evaluated using logistic regression analysis. Receiver operating characteristic (ROC) curves were created to evaluate the predictive model and a Youden index calculated to determine the optimal cutoff for DVISS score to predict abnormal RBUS. RESULTS: 15 of 333 patients (4.5%) had a clinically significant RBUS abnormality. Significantly more patients with abnormal RBUS had a positive UTI history and median DVISS was higher. UTI history and DVISS score were associated with RBUS abnormality whereas neither gender nor race were. A DVISS score cutoff of 12 was determined to be ideal for predicting abnormal imaging. Using DVISS≥12 and positive UTI history, patients with both risk factors were significantly more likely to have an abnormal RBUS than those with zero or one risk factor (Figure). DISCUSSION: To the best of our knowledge this is the first study to try to identify risk factors associated with RBUS abnormality in pediatric LUTD patients and create an evidence-based approach to imaging these patients. We found both DVISS cutoff ≥12 and positive UTI history to be useful to risk stratify LUTD patients' likelihood of abnormal RBUS. Limitations include the study's retrospective nature as well as the fact the population was drawn from a tertiary care pediatric hospital with a large referral population and the fact that the decision to order an RBUS was based on individual clinician preference and decision making. CONCLUSIONS: We found that DVISS score≥12 and UTI history are useful in guiding the decision to obtain RBUS in pediatric LUTD patients.


Asunto(s)
Infecciones Urinarias , Niño , Humanos , Estudios Retrospectivos , Infecciones Urinarias/epidemiología , Vejiga Urinaria/diagnóstico por imagen , Ultrasonografía , Factores de Riesgo
20.
J Racial Ethn Health Disparities ; 10(4): 1735-1744, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-35960437

RESUMEN

BACKGROUND AND OBJECTIVES: The Dysfunctional Voiding and Incontinence Scoring System (DVISS) is a validated tool to evaluate lower urinary tract dysfunction (LUTD) severity in children. DVISS provides a quantitative score (0-35) including a quality-of-life measure, with higher values indicating more/worse symptoms. Clinically, variability exists in symptom severity when patients present to pediatric urology with LUTD. We hypothesized that symptom severity at consultation varied based on race, gender, and/or socioeconomic status. METHODS: All urology encounters at a single institution with completed modified DVISS scores 6/2015-3/2018 were reviewed. Initial visits for patients 5-21 years old with non-neurogenic LUTD were included. Patients with neurologic disorders or genitourinary tract anomalies were excluded. Wilcoxon rank sum tests compared scores between White and Black patients and between male and female patients. Multiple regression models examined relationships among race, gender, estimated median household income, and insurance payor type. All statistics were performed using Stata 15. RESULTS: In total, 4086 initial patient visits for non-neurogenic LUTD were identified. Median DVISS scores were higher in Black (10) versus White (8) patients (p < 0.001). Symptom severity was higher in females (9) versus males (8) (p < 0.001). When estimated median income and insurance payer types were introduced into a multiple regression model, race, gender, and insurance payer type were significantly associated with symptom severity at presentation. CONCLUSIONS: Race, gender, and socioeconomic status significantly impact LUTS severity at the time of urologic consultation. Future studies are needed to clarify the etiologies of these disparities and to determine their clinical significance.


Asunto(s)
Síntomas del Sistema Urinario Inferior , Calidad de Vida , Derivación y Consulta , Determinantes Sociales de la Salud , Trastornos Urinarios , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto Joven , Población Negra , Clase Social , Trastornos Urinarios/diagnóstico , Síntomas del Sistema Urinario Inferior/diagnóstico , Factores Sexuales , Factores Raciales , Negro o Afroamericano , Blanco , Índice de Severidad de la Enfermedad , Factores Socioeconómicos
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