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PURPOSE: The purpose of this guideline is to provide evidence-based guidance to clinicians of all specialties on the evaluation, management, and treatment of idiopathic overactive bladder (OAB). The guideline informs the reader on valid diagnostic processes and provides an approach to selecting treatment options for patients with OAB through the shared decision-making process, which will maximize symptom control and quality of life, while minimizing adverse events and burden of disease. METHODS: An electronic search employing OVID was used to systematically search the MEDLINE and EMBASE databases, as well as the Cochrane Library, for systematic reviews and primary studies evaluating diagnosis and treatment of OAB from January 2013 to November 2023. Criteria for inclusion and exclusion of studies were based on the Key Questions and the populations, interventions, comparators, outcomes, timing, types of studies and settings (PICOTS) of interest. Following the study selection process, 159 studies were included and were used to inform evidence-based recommendation statements. RESULTS: This guideline produced 33 statements that cover the evaluation and diagnosis of the patient with symptoms suggestive of OAB; the treatment options for patients with OAB, including Noninvasive therapies, pharmacotherapy, minimally invasive therapies, invasive therapies, and indwelling catheters; and the management of patients with BPH and OAB. CONCLUSION: Once the diagnosis of OAB is made, the clinician and the patient with OAB have a variety of treatment options to choose from and should, through shared decision-making, formulate a personalized treatment approach taking into account evidence-based recommendations as well as patient values and preferences.
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IMPORTANCE: Feasibility of home urogenital microbiome specimen collection is unknown. OBJECTIVES: This study aimed to evaluate successful sample collection rates from home and clinical research centers. STUDY DESIGN: Adult women participants enrolled in a multicentered cohort study were recruited to an in-person research center evaluation, including self-collected urogenital samples. A nested feasibility substudy evaluated home biospecimen collection prior to the scheduled in-person evaluation using a home collection kit with written instructions, sample collection supplies, and a Peezy™ urine collection device. Participants self-collected samples at home and shipped them to a central laboratory 1 day prior to and the day of the in-person evaluation. We defined successful collection as receipt of at least one urine specimen that was visibly viable for sequencing. RESULTS: Of 156 participants invited to the feasibility substudy, 134 were enrolled and sent collection kits with 89% (119/134) returning at least 1 home urine specimen; the laboratory determined that 79% (106/134) of these urine samples were visually viable for analysis. The laboratory received self-collected urine from the research center visit in 97% (115/119); 76% (91/119) were visually viable for sequencing. Among 401 women who did not participate in the feasibility home collection substudy, 98% (394/401) self-collected urine at the research center with 80% (321/401) returned and visibly viable for sequencing. CONCLUSIONS: Home collection of urogenital microbiome samples for research is feasible, with comparable success to clinical research center collection. Sample size adjustment should plan for technical and logistical difficulties, regardless of specimen collection site.
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BACKGROUND: Urinary microbiome (urobiome) studies have previously reported on specific taxa and community differences in women with mixed urinary incontinence compared with controls. Therefore, a hypothesis was made that higher urinary and vaginal microbiome diversity would be associated with increased urinary incontinence severity. OBJECTIVE: This study aimed to test whether specific urinary or vaginal microbiome community types are associated with urinary incontinence severity in a population of women with mixed urinary incontinence. STUDY DESIGN: This planned secondary, cross-sectional analysis evaluated associations between the urinary and vaginal microbiomes and urinary incontinence severity in a subset of Effects of Surgical Treatment Enhanced With Exercise for Mixed Urinary Incontinence trial participants with urinary incontinence. Incontinence severity was measured using bladder diaries and Urinary Distress Inventory questionnaires collected at baseline. Catheterized urine samples and vaginal swabs were concurrently collected before treatment at baseline to assess the urinary and vaginal microbiomes. Of note, 16S rRNA V4 to V6 variable regions were sequenced, characterizing bacterial taxa to the genus level using the DADA2 pipeline and SILVA database. Using Dirichlet multinomial mixtures methods, samples were clustered into community types based on core taxa. Associations between community types and severity measures (Urinary Distress Inventory total scores, Urinary Distress Inventory subscale scores, and the number of urinary incontinence episodes [total, urgency, and stress] from the bladder diary) were evaluated using linear regression models adjusted for age and body mass index. In addition, alpha diversity measures for richness (total taxa numbers) and evenness (proportional distribution of taxa abundance) were analyzed for associations with urinary incontinence episodes and community type. RESULTS: Overall, 6 urinary microbiome community types were identified, characterized by varying levels of common genera (Lactobacillus, Gardnerella, Prevotella, Tepidimonas, Acidovorax, Escherichia, and others). The analysis of urinary incontinence severity in 126 participants with mixed urinary incontinence identified a Lactobacillus-dominated reference group with the highest abundance of Lactobacillus (mean relative abundance of 76%). A community characterized by fewer Lactobacilli (mean relative abundance of 19%) and greater alpha diversity was associated with higher total urinary incontinence episodes (2.67 daily leaks; 95% confidence interval, 0.76-4.59; P=.007) and urgency urinary incontinence episodes (1.75 daily leaks; 95% confidence interval, 0.24-3.27; P=.02) than the reference group. No significant association was observed between community type and stress urinary incontinence episodes or Urogenital Distress Inventory total or subscores. The composition of vaginal community types and urinary community types were similar but composed of slightly different bacterial taxa. Vaginal community types were not associated with urinary incontinence severity, as measured by bladder diary or Urogenital Distress Inventory total and subscale scores. Alpha diversity indicated that greater sample richness was associated with more incontinence episodes (observed genera P=.01) in urine. Measures of evenness (Shannon and Pielou) were not associated with incontinence severity in the urinary or vaginal microbiomes. CONCLUSION: In the urobiome of women with mixed urinary incontinence, a community type with fewer Lactobacilli and more diverse bacteria was associated with more severe urinary incontinence episodes (total and urgency) compared with a community type with high predominance of a single genus, Lactobacillus. Whether mixed urinary incontinence severity is due to lesser predominance of Lactobacillus, greater presence of other non-Lactobacillus genera, or the complement of bacteria consisting of urobiome community types remains to be determined.
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Microbiota , Índice de Severidad de la Enfermedad , Vagina , Humanos , Femenino , Vagina/microbiología , Persona de Mediana Edad , Estudios Transversales , Incontinencia Urinaria/microbiología , Adulto , Orina/microbiología , Anciano , ARN Ribosómico 16S , Incontinencia Urinaria de Esfuerzo/microbiología , Incontinencia Urinaria de Urgencia/microbiologíaRESUMEN
PURPOSE: We aimed to estimate the prevalence of a wide range of lower urinary tract symptoms (LUTS) in US women, and explore associations with bother and discussion with health care providers, friends, and family. MATERIALS AND METHODS: We analyzed baseline data collected from May 2022 to December 2023 in the RISE FOR HEALTH study-a large, regionally representative cohort study of adult female community members. LUTS and related bother were measured by the 10-item Symptoms of Lower Urinary Tract Dysfunction Research Network Symptom Index, and discussion was assessed by a study-specific item. RESULTS: Of the 3000 eligible participants, 73% (95% CI 71%-74%) reported any storage symptoms, 52% (95% CI 50%-53%) any voiding or emptying symptoms, and 11% (95% CI 10%-13%) any pain with bladder filling, for an overall LUTS prevalence of 79% (95% CI 78%-81%). This prevalence estimate included 43% (95% CI 41%-45%) of participants with mild to moderate symptoms and 37% (95% CI 35%-38%) with moderate to severe symptoms. Over one-third of participants reported LUTS-related bother (38%, 95% CI 36%-39%) and discussion (38%, 95% CI 36%-40%), whereas only 7.1% (95% CI 6.2%-8.1%) reported treatment. Urgency and incontinence (including urgency and stress incontinence) were associated with the greatest likelihood of bother and/or discussion (adjusted prevalence ratios = 1.3-2.3), even at mild to moderate levels. They were also the most commonly treated LUTS. CONCLUSIONS: LUTS, particularly storage LUTS such as urgency and incontinence, were common and bothersome in the RISE study population, yet often untreated. Given this large burden, both prevention and treatment-related interventions are warranted to reduce the high prevalence and bother of LUTS.
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Síntomas del Sistema Urinario Inferior , Humanos , Síntomas del Sistema Urinario Inferior/epidemiología , Femenino , Prevalencia , Estados Unidos/epidemiología , Persona de Mediana Edad , Anciano , Adulto , Estudios de CohortesRESUMEN
PURPOSE: The purpose of this guideline is to provide evidence-based guidance to clinicians of all specialties on the evaluation, management, and treatment of idiopathic overactive bladder (OAB). The guideline informs the reader on valid diagnostic processes and provides an approach to selecting treatment options for patients with OAB through the shared decision-making process, which will maximize symptom control and quality of life, while minimizing adverse events and burden of disease. METHODS: An electronic search employing OVID was used to systematically search the MEDLINE and EMBASE databases, as well as the Cochrane Library, for systematic reviews and primary studies evaluating diagnosis and treatment of OAB from January 2013 to November 2023. Criteria for inclusion and exclusion of studies were based on the Key Questions and the populations, interventions, comparators, outcomes, timing, types of studies and settings (PICOTS) of interest. Following the study selection process, 159 studies were included and were used to inform evidence-based recommendation statements. RESULTS: This guideline produced 33 statements that cover the evaluation and diagnosis of the patient with symptoms suggestive of OAB; the treatment options for patients with OAB, including non-invasive therapies, pharmacotherapy, minimally invasive therapies, invasive therapies, and indwelling catheters; and the management of patients with BPH and OAB. CONCLUSION: Once the diagnosis of OAB is made, the clinician and the patient with OAB have a variety of treatment options to choose from and should, through shared decision-making, formulate a personalized treatment approach taking into account evidence-based recommendations as well as patient values and preferences.
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Vejiga Urinaria Hiperactiva , Urología , Humanos , Vejiga Urinaria Hiperactiva/diagnóstico , Vejiga Urinaria Hiperactiva/terapia , Urología/normas , Toma de Decisiones Conjunta , Sociedades Médicas/normasRESUMEN
OBJECTIVES: The objective of this study is to inform our hypothesis that the workplace toileting environment may impact lower urinary tract symptoms (LUTS); we examined the prevalence of LUTS across occupational groups in the Boston Area Community Health Survey. METHODS: At baseline, women (n = 3205) reported their occupation and frequency of 15 LUTS. Using the US Department of Labor's Standard Occupational Classification (SOC) system, we categorized women into 11 standard occupational groups. Prevalence ratios (PRs) were calculated by log-link generalized linear models, adjusting for age, race, education, fluid intake, and parity. Women classified in Office and Administrative Support were used as the reference group given their potential for fewer workplace toileting restrictions. RESULTS: Of the 3189 women with complete data, 68% of women reported any LUTS, ranging from 57% to 82% across the SOCs. Relative to women in Office and Administrative Support (n = 576), women in Computing, Engineering, and Science (n = 64) were more likely to report any LUTS (PR = 1.2, 95% confidence interval [95% CI]: 1.0-1.4) and urinating again in <2 h (PR = 1.7, 95% CI: 1.4-2.2), and women in Education, Legal, Community Service, Arts, and Media (n = 477), as well as Healthcare Practitioner and Technical Occupations (n = 162), were less likely to report perceived frequent daytime urination (PR = 0.6, 95% CI: 0.5-0.9 and PR = 0.6, 95% CI: 0.4-0.9, respectively). CONCLUSIONS: Our cross-sectional findings suggest that urination frequency varies across understudied occupational groups with various workplace toileting environments. Future studies should examine this relationship prospectively to inform the influence of workplace toileting environments on urination frequency, as well as the development and/or worsening of LUTS.
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Síntomas del Sistema Urinario Inferior , Grupos Profesionales , Cuartos de Baño , Condiciones de Trabajo , Femenino , Humanos , Boston/epidemiología , Estudios Transversales , Síntomas del Sistema Urinario Inferior/epidemiología , Síntomas del Sistema Urinario Inferior/diagnóstico , Prevalencia , Encuestas y Cuestionarios , Condiciones de Trabajo/normas , Condiciones de Trabajo/estadística & datos numéricos , Cuartos de Baño/normas , Cuartos de Baño/estadística & datos numéricosRESUMEN
OBJECTIVE: A small, but growing literature links stressors and mental health disorders (MHDs) across the life course to overactive bladder (OAB) and urinary incontinence symptoms. Mechanisms by which stressors and MHDs may impact bladder health are not fully understood, limiting novel prevention and treatment efforts. Moreover, potential biopsychosocial mechanisms involving the brain and gut have not been considered in an integrated, comprehensive fashion. METHODS: Members of the prevention of lower urinary tract symptoms Research Consortium developed conceptual models to inform research on biopsychosocial mechanisms through which stress and MDHs may impact bladder health among girls and women, focusing on brain and gut physiology. RESULTS: Two conceptual models were developed-one to explain central (brain-based) and peripheral (gut-based) mechanisms linking stressors and MHDs to OAB and bladder health, and one to highlight bidirectional communication between the brain, gut, and bladder. Traumatic events, chronic stressors, and MHDs may lead to a maladaptive stress response, including dysregulated communication and signaling between the brain, gut, and bladder. Gut bacteria produce molecules and metabolites that alter production of neurotransmitters, amino acids, short-chain fatty acids, and inflammatory immune response molecules that mediate communication between the gut and brain. Microbiota signal neurogenesis, microglia maturation, and synaptic pruning; they also calibrate brain-gut-bladder axis communication through neurotransmission and synaptogenesis, potentially influencing bladder symptom development. Life course trajectories of risk may be prevented or interrupted by central and peripheral resources for neuropsychological resilience. CONCLUSIONS: Depicted pathways, including brain-gut-bladder communication, have implications for research and development of novel prevention and treatment approaches.
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Vejiga Urinaria Hiperactiva , Incontinencia Urinaria , Humanos , Femenino , Vejiga Urinaria Hiperactiva/terapia , Vejiga Urinaria , Salud Mental , EncéfaloRESUMEN
INTRODUCTION: Onabotulinumtoxin A (BTX-A) is a well-established treatment for overactive bladder (OAB). The American Urological Association (AUA) 2008 Antibiotic Best Practice Statement (BPS) recommended trimethoprim-sulfamethoxazole or fluoroquinolone for cystoscopy with manipulation. The aim of the study was to evaluate concordance with antibiotic best practices at the time of BTX-A injection and urinary tract infection (UTI) rates based on antibiotic regimen. METHODS: Men and women undergoing first-time BTX-A injection for idiopathic OAB with 100 units in 2016, within the SUFU Research Network (SURN) multi-institutional retrospective database were included. Patients on suppressive antibiotics were excluded. The primary outcome was concordance of periprocedural antibiotic use with the AUA 2008 BPS antimicrobials of choice for "cystoscopy with manipulation." As a secondary outcome we compared the incidence of UTI among women within 30 days after BTX-A administration. Each outcome was further stratified by procedure setting (office vs. operating room; OR). RESULTS: Of the cohort of 216 subjects (175 women, 41 men) undergoing BTX-A, 24 different periprocedural antibiotic regimens were utilized, and 98 (45%) underwent BTX-A injections in the OR setting while 118 (55%) underwent BTX-A injection in the office. Antibiotics were given to 86% of patients in the OR versus 77% in office, and 8.3% of subjects received BPS concordant antibiotics in the OR versus 82% in office. UTI rates did not vary significantly among the 141 subjects who received antibiotics and had 30-day follow-up (8% BPS-concordant vs. 16% BPS-discordant, CI -2.4% to 19%, p = 0.13). A sensitivity analysis of UTI rates based on procedure setting (office vs. OR) did not demonstrate any difference in UTI rates (p = 0.14). CONCLUSIONS: This retrospective multi-institutional study demonstrates that antibiotic regimens and adherence to the 2008 AUA BPS were highly variable among providers with lower rates of BPS concordant antibiotic use in the OR setting. UTI rates at 30 days following BTX-A did not vary significantly based on concordance with the BPS or procedure setting.
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Toxinas Botulínicas Tipo A , Vejiga Urinaria Hiperactiva , Infecciones Urinarias , Masculino , Humanos , Femenino , Antibacterianos/uso terapéutico , Vejiga Urinaria Hiperactiva/tratamiento farmacológico , Vejiga Urinaria Hiperactiva/complicaciones , Estudios Retrospectivos , Infecciones Urinarias/tratamiento farmacológico , Infecciones Urinarias/epidemiología , Infecciones Urinarias/etiología , Proteínas RepresorasRESUMEN
INTRODUCTION AND HYPOTHESIS: Lower urinary tract symptoms (LUTS) are common among adolescent girls. Physical activity (PA) has been implicated as both a risk (high-impact PA) and protective factor (low-impact, moderate to vigorous intensity PA) for LUTS in adult women, but its role in adolescent girls is unclear. This study investigated the prospective association between physical activity and LUTS risk in adolescent girls. METHODS: The sample comprised 3,484 female participants in the Avon Longitudinal Study of Parents and Children. Multivariate logistic regression models were used to examine daily minutes of moderate to vigorous PA (MVPA) at ages 11 and 15 years in relation to LUTS at ages 14 and 19 respectively. MVPA was assessed by 7-day accelerometer data. LUTS were assessed by questionnaire. MVPA were analyzed as continuous (minutes/day) and categorical variables (<10th percentile, 10-89th percentile, ≥90th percentile). RESULTS: Prevalence of LUTS ranged from 2.0% for bedwetting to 9.5% for nocturia at age 14 and from 2.0% for straining to urinate to 35.5% for interrupted urine flow at age 19. Physical activity was not associated with LUTS at either time-point. CONCLUSIONS: Given the prevalence of LUTS in female adolescent populations, although this study did not find an association with accelerometer-measured MVPA, other aspects of PA that may serve as risk or protective factors deserve investigation.
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Síntomas del Sistema Urinario Inferior , Nocturia , Niño , Adulto , Humanos , Femenino , Adolescente , Adulto Joven , Estudios Longitudinales , Síntomas del Sistema Urinario Inferior/epidemiología , Síntomas del Sistema Urinario Inferior/etiología , Ejercicio Físico , PadresRESUMEN
INTRODUCTION: Contemporary US resident exposure to Female Pelvic Medicine and Reconstructive Surgery (FPMRS) faculty during urology residency is unknown. METHODS: Accredited US urology residencies were identified through the American Urological Association (AUA). Accredited, urology-based FPMRS fellowships were identified through the Society of Urodynamics, Female Pelvic Medicine and Urogenital Reconstruction. The number of faculty and residency positions were obtained from program AUA profiles if they were last modified within the current application cycle; this information was obtained from program websites if AUA profiles were outdated. Data on faculty fellowship training was manually extracted from program websites. A quality control cross-check of program and faculty training characteristics was performed through direct communication with 5% of programs. RESULTS: Of 139 accredited residency programs assessed, 10.8% were affiliated with an accredited, urology-based FPMRS fellowship. In total, 29.5% of residency programs, representing 25% of US urology residents, had neither a FPMRS fellowship nor any FPMRS certified faculty. The national FPMRS faculty-to-resident ratio was 1:10.8, and 7.4% of faculty at all residency programs were FPMRS certified. In comparison, faculty-to-resident ratios for other subspecialties were: 1:4.7 for pediatrics, 1:3.6 for oncology, 1:5.9 for minimally invasive surgery/endourology, 1:14.2 for trauma/reconstruction, and 1:11.8 for andrology or male sexual/reproductive health. The FPMRS faculty-to-resident ratio was 1:5.1 in programs with a urology-based FPMRS fellowship compared with 1:13.4 in programs without a FPMRS fellowship. CONCLUSIONS: 30% of US urology residency programs lack FPMRS trained faculty. Even when FPMRS faculty are on staff, the field is often underrepresented relative to other urologic subspecialties. Further studies are required to ascertain if inadequate exposure to FPMRS cases and mentors during training contribute to the shortage of urology residents who choose to specialize in FPMRS. This link has important implications for the current shortage of FPMRS providers.
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Internado y Residencia , Cirugía Plástica , Urología , Humanos , Masculino , Femenino , Estados Unidos , Niño , Urología/educación , Educación de Postgrado en Medicina , Cirugía Plástica/educación , Procedimientos Quirúrgicos Urológicos/educaciónRESUMEN
INTRODUCTION: Grading of hydronephrosis severity on postnatal renal ultrasound guides management decisions in antenatal hydronephrosis (ANH). Multiple systems exist to help standardize hydronephrosis grading, yet poor inter-observer reliability persists. Machine learning methods may provide tools to improve the efficiency and accuracy of hydronephrosis grading. OBJECTIVE: To develop an automated convolutional neural network (CNN) model to classify hydronephrosis on renal ultrasound imaging according to the Society of Fetal Urology (SFU) system as potential clinical adjunct. STUDY DESIGN: A cross-sectional, single-institution cohort of postnatal renal ultrasounds with radiologist SFU grading from pediatric patients with and without hydronephrosis of stable severity was obtained. Imaging labels were used to automatedly select sagittal and transverse grey-scale renal images from all available studies from each patient. A VGG16 pre-trained ImageNet CNN model analyzed these preprocessed images. Three-fold stratified cross-validation was used to build and evaluate the model that was used to classify renal ultrasounds on a per patient basis into five classes based on the SFU system (normal, SFU I, SFU II, SFU III, or SFU IV). These predictions were compared to radiologist grading. Confusion matrices evaluated model performance. Gradient class activation mapping demonstrated imaging features driving model predictions. RESULTS: We identified 710 patients with 4659 postnatal renal ultrasound series. Per radiologist grading, 183 were normal, 157 were SFU I, 132 were SFU II, 100 were SFU III, and 138 were SFU IV. The machine learning model predicted hydronephrosis grade with 82.0% (95% CI: 75-83%) overall accuracy and classified 97.6% (95% CI: 95-98%) of the patients correctly or within one grade of the radiologist grade. The model classified 92.3% (95% CI: 86-95%) normal, 73.2% (95% CI: 69-76%) SFU I, 73.5% (95% CI: 67-75%) SFU II, 79.0% (95% CI: 73-82%) SFU III, and 88.4% (95% CI: 85-92%) SFU IV patients accurately. Gradient class activation mapping demonstrated that the ultrasound appearance of the renal collecting system drove the model's predictions. DISCUSSION: The CNN-based model classified hydronephrosis on renal ultrasounds automatically and accurately based on the expected imaging features in the SFU system. Compared to prior studies, the model functioned more automatically with greater accuracy. Limitations include the retrospective, relatively small cohort, and averaging across multiple imaging studies per patient. CONCLUSIONS: An automated CNN-based system classified hydronephrosis on renal ultrasounds according to the SFU system with promising accuracy based on appropriate imaging features. These findings suggest a possible adjunctive role for machine learning systems in the grading of ANH.
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Hidronefrosis , Urología , Humanos , Niño , Femenino , Embarazo , Urología/educación , Estudios Retrospectivos , Reproducibilidad de los Resultados , Estudios Transversales , Hidronefrosis/diagnóstico por imagen , UltrasonografíaRESUMEN
OBJECTIVE: To determine the prevalence of women who report avoiding exercise or stopping a workout due to lower urinary tract symptoms (LUTS) in a community population, characterize symptoms in these women, and identify clinical and demographic factors associated with exercise cessation due to LUTS. METHODS: A cross-sectional online survey was administered to community-based women. The prevalence of having avoided exercise or stopped a workout due to LUTS was calculated. Clinical and demographic variables along with comprehensive urinary symptoms assessed by the Lower Urinary Tract Research Network-Symptom Index (LURN-SI 29) were compared between women with and without the outcome. Multivariable logistic regression and random forest models were used to identify variables associated with the outcome. RESULTS: Out of 1707 women who completed the survey, 18.9% reported avoiding exercising or stopping a workout due to LUTS. For these women, multiple domains of LUTS were noted, including incontinence, pain, voiding difficulty, urgency, and nocturia. Multivariable logistic regression identified LURN SI-29 score, White race, and prior vaginal delivery as significantly associated with the outcome, while the random forest model identified LURN SI-29 score, age, and body mass index (BMI) as most important. CONCLUSION: In a population-based study, 1 in 5 women reported avoiding exercise or stopping a workout due to LUTS. Their reported LUTS span multiple symptom domains, and factors associated with stopping exercise include symptom severity, older age, higher BMI, White race, and prior vaginal delivery. Addressing LUTS may improve the resumption and continuation of exercise in women.
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Síntomas del Sistema Urinario Inferior , Nocturia , Incontinencia Urinaria , Humanos , Femenino , Masculino , Prevalencia , Estudios Transversales , Síntomas del Sistema Urinario Inferior/epidemiología , Síntomas del Sistema Urinario Inferior/diagnóstico , Nocturia/epidemiología , Encuestas y CuestionariosRESUMEN
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research.
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Enfermedad del Almacenamiento de Glucógeno Tipo IV , Enfermedad del Almacenamiento de Glucógeno , Enfermedades Neurodegenerativas , Preescolar , Humanos , Enfermedad del Almacenamiento de Glucógeno Tipo IV/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo IV/genética , Enfermedad del Almacenamiento de Glucógeno Tipo IV/terapia , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Enfermedad del Almacenamiento de Glucógeno/genética , Enfermedad del Almacenamiento de Glucógeno/terapia , GlucógenoRESUMEN
PURPOSE: Urologists rely heavily on videourodynamics to identify patients with neurogenic bladders who are at risk of upper tract injury, but their interpretation has high interobserver variability. Our objective was to develop deep learning models of videourodynamics studies to categorize severity of bladder dysfunction. MATERIALS AND METHODS: We performed a cross-sectional study of patients aged 2 months to 28 years with spina bifida who underwent videourodynamics at a single institution between 2019 and 2021. The outcome was degree of bladder dysfunction, defined as none/mild, moderate, and severe, defined by a panel of 5 expert reviewers. Reviewers considered factors that increase the risk of upper tract injury, such as poor compliance, elevated detrusor leak point pressure, and detrusor sphincter dyssynergia, in determining bladder dysfunction severity. We built 4 models to predict severity of bladder dysfunction: (1) a random forest clinical model using prospectively collected clinical data from videourodynamics studies, (2) a deep learning convolutional neural network of raw data from the volume-pressure recordings, (3) a deep learning imaging model of fluoroscopic images, (4) an ensemble model averaging the risk probabilities of the volume-pressure and fluoroscopic models. RESULTS: Among 306 videourodynamics studies, the accuracy and weighted kappa of the ensemble model classification of bladder dysfunction when at least 75% expected bladder capacity was reached were 70% (95% CI 66%,76%) and 0.54 (moderate agreement), respectively. The performance of the clinical model built from data extracted by pediatric urologists was the poorest with an accuracy of 61% (55%, 66%) and a weighted kappa of 0.37. CONCLUSIONS: Our models built from urodynamic pressure-volume tracings and fluoroscopic images were able to automatically classify bladder dysfunction with moderately high accuracy.
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Aprendizaje Profundo , Disrafia Espinal , Vejiga Urinaria Neurogénica , Niño , Humanos , Vejiga Urinaria/diagnóstico por imagen , Estudios Transversales , Vejiga Urinaria Neurogénica/diagnóstico , Vejiga Urinaria Neurogénica/etiología , Disrafia Espinal/complicaciones , UrodinámicaRESUMEN
PURPOSE: We examined how antecedent sexual health factors affect lower urinary tract symptoms (LUTS) in adolescent women. METHODS: We analyzed 1,941 adolescent women from the Avon Longitudinal Study of Parents and Children at age 19. At ages 15 and 17, participants reported use of oral contraceptives (OCs), history of sexual intercourse, number of sexual partners, and condom use. At age 19, The Bristol Female Lower Urinary Tract Symptoms questionnaire quantified the frequency over the past month: stress incontinence, any incontinence, urgency, sensation of incomplete emptying, bladder pain, and urinary tract infection. Multivariable regression models examined associations between sexual health behaviors reported at ages 15 and 17 and six LUTS reported at age 19, after controlling for covariates. RESULTS: Commonly reported LUTS at age 19 were past-month stress incontinence (26.8%), bladder pain (26.3%), any urine leakage (22.1%), and urinary tract infection (15.4%). OC use by age 17 was associated with urgency (odds ratio [OR] = 1.62, 95% confidence interval [CI] 1.19-2.20), incomplete emptying (OR = 1.62, 95% CI = 1.17-2.26), bladder pain (OR = 1.45, 95% CI = 1.15-1.83), and urinary tract infections (OR = 1.68, 95% CI = 1.28-2.21) at age 19 after adjustment for covariates. However, associations were attenuated after adjustment for condom use and number of sexual partners. Sexual intercourse by age 17 was associated with 1.53-2.65 increased odds of LUTs categories except incontinence, with lower confidence interval boundaries > 1.0. Associations were stronger among women with ≥ 3 sexual partners (vs. 0) by age 17. DISCUSSION: We found longitudinally assessed associations between OC use, sexual intercourse, and number of sexual partners during adolescence and LUTS at age 19.
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Síntomas del Sistema Urinario Inferior , Salud Sexual , Infecciones Urinarias , Adolescente , Niño , Femenino , Humanos , Adulto Joven , Adulto , Estudios Longitudinales , Síntomas del Sistema Urinario Inferior/epidemiología , Síntomas del Sistema Urinario Inferior/diagnóstico , Encuestas y Cuestionarios , Infecciones Urinarias/epidemiología , Conductas Relacionadas con la Salud , DolorRESUMEN
BACKGROUND: Existing bladder-specific measures lack the ability to assess the full range of bladder health, from poor to optimal health. OBJECTIVE: This study aimed to report evidence of validity of the self-administered, multidimensional bladder health scales and function indices for research in adult women. STUDY DESIGN: A cross-sectional population-based validation study with random assignment to paper or electronic administration was conducted using national address-based probability sampling supplemented by purposive sampling of women with lower urinary tract symptoms in 7 clinical research centers. Construct validity of the bladder health scales and function indices was guided by a multitrait-multimethod approach using health and condition-specific questionnaires, bladder diaries, expert ratings of bladder health, and noninvasive bladder function testing. Internal dimensional validity was evaluated using factor analysis; internal reliability was assessed using paired t-tests and 2-way mixed-effects intraclass correlation coefficient models. Chi-square, Fisher exact, or t-tests were used for mode comparisons. Convergent validity was evaluated using Pearson correlations with the external construct measures, and known-group validity was established with comparison of women known and unknown to be symptomatic of urinary conditions. RESULTS: The sample included 1072 participants. Factor analysis identified 10 scales, with Cronbach's alpha ranging from 0.74 to 0.94. Intraclass correlation coefficients of scales ranged from 0.55 to 0.94. Convergent validity of the 10 scales and 6 indices ranged from 0.52 to 0.83. Known-group validity was confirmed for all scales and indices. Item distribution was similar by mode of administration. CONCLUSION: The paper and electronic forms of the bladder health scales and function indices are reliable and valid measures of bladder health for use in women's health research.
Asunto(s)
Calidad de Vida , Vejiga Urinaria , Adulto , Humanos , Femenino , Reproducibilidad de los Resultados , Estudios Transversales , Psicometría/métodos , Encuestas y CuestionariosRESUMEN
OBJECTIVE: The Prevention of Lower Urinary Tract Symptoms (PLUS) research consortium launched the RISE FOR HEALTH (RISE) national study of women's bladder health which includes annual surveys and an in-person visit. For the in-person exam, a standardized, replicable approach to conducting a pelvic muscle (PM) assessment was necessary. The process used to develop the training, the products, and group testing results from the education and training are described. METHODS: A comprehensive pelvic muscle assessment (CPMA) program was informed by literature view and expert opinion. Training materials were prepared for use on an electronicLearning (e-Learning) platform. An in-person hands-on simulation and certification session was then designed. It included a performance checklist assessment for use by Clinical Trainers, who in collaboration with a gynecology teaching assistant, provided an audit and feedback process to determine Trainee competency. RESULTS: Five discrete components for CPMA training were developed as e-Learning modules. These were: (1) overview of all the clinical measures and PM anatomy and examination assessments, (2) visual assessment for pronounced pelvic organ prolapse, (3) palpatory assessment of the pubovisceral muscle to estimate muscle integrity, (4) digital vaginal assessment to estimate strength, duration, symmetry during PM contraction, and (5) pressure palpation of both myofascial structures and PMs to assess for self-report of pain. Seventeen Trainees completed the full CPMA training, all successfully meeting the a priori certification required pass rate of 85% on checklist assessment. CONCLUSIONS: The RISE CPMA training program was successfully conducted to assure standardization of the PM assessment across the PLUS multicenter research sites. This approach can be used by researchers and healthcare professionals who desire a standardized approach to assess competency when performing this CPMA in the clinical or research setting.
Asunto(s)
Instrucción por Computador , Prolapso de Órgano Pélvico , Enfermedades de la Vejiga Urinaria , Femenino , Humanos , Contracción Muscular/fisiología , Músculos , Terapia por EjercicioRESUMEN
OBJECTIVES: To describe the methods for the in-person assessment of the RISE FOR HEALTH (RISE) study, a population-based multicenter prospective cohort study designed to identify factors that promote bladder health and/or prevent lower urinary tract symptoms in adult women, conducted by the Prevention of Lower Urinary Tract Symptoms Research Consortium (PLUS). METHODS AND RESULTS: A subset of RISE participants who express interest in the in-person assessment will be screened to ensure eligibility (planned n = 525). Eligible consenting participants are asked to complete 15 physical assessments in addition to height and weight, to assess pelvic floor muscle function, musculoskeletal (MSK) status, and pain, and to provide urogenital microbiome samples. Pelvic floor muscle assessments include presence of prolapse, strength, levator attachment integrity (tear) and myofascial pain. MSK tests evaluate core stability, lumbar spine, pelvic girdle and hip pain and function. Participants are asked to complete the Short Physical Performance Battery to measure balance, lower extremity strength, and functional capacity. All participants are asked to provide a voided urine sample and a vaginal swab for microbiome analyses; a subset of 100 are asked to contribute additional samples for feasibility and validation of a home collection of urinary, vaginal, and fecal biospecimens. RESULTS: Online and in-person training sessions were used to certify research staff at each clinical center before the start of RISE in-person assessments. Standardized protocols and data collection methods are employed uniformly across sites. CONCLUSIONS: The RISE in-person assessment is an integral portion of the overall population-based RISE study and represents an innovative approach to assessing factors hypothesized to promote bladder health and/or prevent lower urinary tract symptoms. Data collected from this assessment will be used to prioritize future research questions and prevention strategies and interventions. This description of the assessment methods is intended to provide methodologic transparency and inform other researchers who join efforts to understand and improve bladder health.
Asunto(s)
Síntomas del Sistema Urinario Inferior , Diafragma Pélvico , Adulto , Humanos , Femenino , Estudios Prospectivos , Vejiga Urinaria , DolorRESUMEN
PURPOSE OF REVIEW: To summarize the current understanding on the epidemiology, pathophysiology, and management strategies of urinary incontinence (UI) in female athletes, highlighting findings specific to nulliparous elite athletes. RECENT FINDINGS: UI occurs in about 20-50% of female athletes of all ages and parity status, around 40% for younger nulliparous athletes, and is more prevalent in high-impact sports. Possible contributing factors to UI in female elite athletes include pelvic floor laxity and bladder neck descent, pelvic floor muscle fatigue, low energy availability, and hypermobility syndrome. In female elite athletes, urinary symptoms negatively affect quality of life, although the effects of symptoms on exercise participation are not well understood. Current management strategies are primarily conservative and centered on behavioral modifications and pelvic floor muscle physiotherapy. UI in female elite athletes appears to be multifactorial. Clarifying how individual factors influence UI in this population will inform athlete counseling, prevention, and treatment strategies.