RESUMO
Urinary tract infections (UTIs) are common complications in people with neurogenic bladder. Prevention, diagnosis, and treatment are challenging for several reasons, including a high prevalence of asymptomatic bacteriuria and catheter use, frequent ambiguous nonlocalizing signs and symptoms, increased risk for complications and difficult-to-treat pathogens, and a lack of effective preventative methods. Current research aims to improve elicitation and evaluation of signs and symptoms, implement algorithms to avoid urine cultures in asymptomatic patients and use appropriate antibiotics for UTI, and identify novel effective prevention methods.
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Traumatismos da Medula Espinal , Bexiga Urinaria Neurogênica , Infecções Urinárias , Humanos , Bexiga Urinaria Neurogênica/terapia , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/complicações , Infecções Urinárias/diagnóstico , Infecções Urinárias/terapia , Infecções Urinárias/tratamento farmacológico , Traumatismos da Medula Espinal/complicações , Antibacterianos/uso terapêuticoRESUMO
BACKGROUND: Previous studies have indicated that creatinine (Cr)-based glomerular filtration rate (GFR) estimating equations - including the new Chronic Kidney Disease Epidemiology creatinine (CKD-EPIcr) equation without race and the estimated glomerular filtration rate (eGFR) equation developed for the Chinese population - displayed suboptimal performance in patients with neurogenic lower urinary tract dysfunction (NLUTD), which limited their clinical application for detecting changes in GFR levels in all cohorts. OBJECTIVE: To develop a neural network model based on multilayer perceptron (MLP) for evaluating GFR in Chinese NLUTD patients, and compare the diagnostic performance with Cr-based multiple linear regression equations for Chinese and the CKD-EPIcr equation without race. DESIGN: Single-center, cross-sectional study of GFR estimation from serum Cr, demographic data, and clinical characteristics in Chinese patients with NLUTD. PATIENTS: A total of 204 NLUTD patients, from 27 different geographic regions of China, were selected. A random sample of 141 of these subjects was included in the training sample set, and the remaining 63 patients were included in the testing sample set. METHODS: The reference GFR (rGFR) was assessed by the technetium-99m-labeled diethylenetriaminepentaacetic acid (99mTc-DTPA) double plasma sample method. A neural network model based on MLP was developed to evaluate GFR in the training sample set, which was then validated in the testing sample set and compared with Cr-based GFR equations. RESULTS: The MLP-based model showed significant performance improvement in evaluating the difference, absolute difference, precision, and accuracy of GFR estimation compared with the Cr-based GFR equations. Additionally, compared with the rGFR, we found that the MLP-based model provided an acceptable level of accuracy (greater than 85%, which was within a 30% deviation from the rGFR). CONCLUSION: The MLP-based model offered significant advantages in estimating GFR in Chinese NLUTD patients, and its application could be suggested in clinical practice.
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Creatinina , Taxa de Filtração Glomerular , Redes Neurais de Computação , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Transversais , Adulto , Creatinina/sangue , China/epidemiologia , Idoso , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/sangue , Insuficiência Renal Crônica/fisiopatologia , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/sangue , Insuficiência Renal Crônica/complicações , Pentetato de Tecnécio Tc 99mRESUMO
The evaluation of people with neurogenic lower urinary tract dysfunction (NLUTD) often involves objective parameters, however quality of life (QOL) assessments are crucial for patient-centered care. This article discusses how to measure QOL and urinary symptoms in NLUTD and highlights various questionnaires such as the Qualiveen, Neurogenic Bladder Symptom Score (NBSS), and the Incontinence Quality of Life Questionnaire (I-QOL). These questionnaires focus on bladder-related QOL or symptoms and have been validated in multiple NLUTD populations. These tools are important for advancing research and the clinical care of NLUTD patients, and have the potential to impact decision-making and improve patient outcomes.
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Bexiga Urinaria Neurogênica , Bexiga Urinária , Humanos , Qualidade de Vida , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/terapiaRESUMO
Primary care plays an important role in caring for neurogenic bladder patients. Clinicians should assess neurogenic bladder patients for common urologic symptoms/signs and refer to urology if refractory or safety issues are identified.
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Médicos de Atenção Primária , Bexiga Urinaria Neurogênica , Urologia , Humanos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/terapiaRESUMO
Neurogenic lower urinary tract dysfunction in multiple sclerosis is often underestimated, underdiagnosed, and inadequately treated. Depending on the course of the disease and the location of neural damage, it occurs with varying frequency and types of impairment of urine storage and voiding function. Symptoms such as urinary incontinence, recurrent urinary tract infections, urgency, pollakiuria, reduced urinary flow, hesitancy as well as postvoid residual urine may occur. However, the symptoms do not allow any conclusions to be drawn about the underlying type of neurogenic lower urinary tract dysfunction. Although numerous data, publications, and guidelines are available on this topic today, there continues to be a lack of standardized screening parameters and algorithms that have been tested in prospective studies for multiple sclerosis. This article presents the current diagnostic and therapeutic options of neurogenic lower urinary tract dysfunction in multiple sclerosis. A crucial issue is the initial delay in diagnosis, not least due to a lack of communication between neurologists and urologists. Initial indicators of the presence of neurogenic lower urinary tract dysfunction can be obtained by actively asking about the subjective presence of symptoms such as urinary incontinence or the occurrence of urinary tract infections. However, a subjective lack of symptoms does not rule out a neurogenic lower urinary tract dysfunction. Regardless of the stage of the disease, an early and individualized neuro-urological diagnosis and treatment should be implemented. All aspects of the damage and the extent of functional deficits in other organ systems caused by multiple sclerosis must be included in this neuro-urological treatment decision, which requires a consistent interdisciplinary exchange between neurologists, general practitioners, and urologists. This interdisciplinary and interprofessional way of thinking and acting is key for an optimal treatment using the numerous therapeutic procedures. Lifelong, individual, risk-adapted urological care for the early detection and prevention of neuro-urological complications should be offered to persons with multiple sclerosis.
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Sintomas do Trato Urinário Inferior , Esclerose Múltipla , Bexiga Urinaria Neurogênica , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/terapia , Humanos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/terapia , Bexiga Urinaria Neurogênica/etiologia , Sintomas do Trato Urinário Inferior/etiologia , Sintomas do Trato Urinário Inferior/diagnóstico , Sintomas do Trato Urinário Inferior/terapiaRESUMO
Neurogenic, non-obstructive urinary retention has a varied aetiology. The condition can be caused by central-nervous diseases as well as by disorders of the peripheral nervous system. The formation of residual urine may lead to considerable problems that can have a significant impact on a patient's everyday life. A treatment appropriate for the lower urinary tract dysfunction and suited to the patient's situation in life is only possible if a differentiated diagnostic evaluation has been performed. Both conservative and surgical therapeutic strategies are available, while drug treatment approaches are less relevant. Neuromodulative procedures are particularly suitable for causal treatment of the dysfunction. For patients requiring artificial bladder voiding, intermittent self-catheterization is generally preferable to using an indwelling catheter.
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Bexiga Urinaria Neurogênica , Retenção Urinária , Retenção Urinária/terapia , Retenção Urinária/etiologia , Retenção Urinária/diagnóstico , Humanos , Bexiga Urinaria Neurogênica/terapia , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Cateterismo UrinárioRESUMO
PURPOSE: Patients with spinal cord injuries (SCIs) experience variable urinary symptoms and quality of life (QOL). Our objective was to use machine learning to identify bladder-relevant phenotypes after SCI and assess their association with urinary symptoms and QOL. MATERIALS AND METHODS: We used data from the Neurogenic Bladder Research Group SCI registry. Baseline variables that were previously shown to be associated with bladder symptoms/QOL were included in the machine learning environment. An unsupervised consensus clustering approach (k-prototypes) was used to identify 4 patient clusters. After qualitative review of the clusters, 2 outcomes of interest were assessed: the total Neurogenic Bladder Symptom Score (NBSS) and the NBSS-satisfaction question (QOL). The NBSS and NBSS-satisfaction question at baseline and after 1 year were compared between clusters using analysis of variance and linear regression. RESULTS: Among the 1263 included participants, the 4 identified clusters were termed "female predominant," "high function, low SCI complication," "quadriplegia with bowel/bladder morbidity," and "older, high SCI complication." Using outcome data from baseline, significant differences were observed in the NBSS score, with the female predominant group exhibiting worse bladder symptoms. After 1 year, the overall bladder symptoms (NBSS Total) did not change significantly by cluster; however, the QOL score for the high function, low SCI complication group had more improvement (ß = -0.12, P = .005), while the female predominant group had more deterioration (ß = 0.09, P = .047). CONCLUSIONS: This study demonstrates the utility of machine learning in uncovering bladder-relevant phenotypes among SCI patients. Future research should explore cluster-based targeted strategies to enhance bladder-related outcomes and QOL in SCI.
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Fenótipo , Qualidade de Vida , Traumatismos da Medula Espinal , Aprendizado de Máquina não Supervisionado , Bexiga Urinaria Neurogênica , Humanos , Traumatismos da Medula Espinal/complicações , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinária/fisiopatologia , Sistema de Registros , Aprendizado de MáquinaRESUMO
Here we reviewed bladder dysfunction in neurological diseases. Diseases of the brain cause overactive bladder (OAB); peripheral neuropathy including lumbar spondylosis results in postvoid residual; and spinal cord diseases cause a combination of OAB and postvoid residual. Multiple system atrophy mimics bladder dysfunction related to spinal cord disease. Conversely, in cases of bladder dysfunction of unknown etiologies, the underlying disease can be identified by the bladder dysfunction pattern. Aging also causes nocturnal polyuria. The collaboration between neurologists and urologists is highly recommended to maximize the quality of life of neurological patients.
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Neurologia , Bexiga Urinaria Neurogênica , Bexiga Urinária Hiperativa , Humanos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinária , Qualidade de Vida , Envelhecimento , Bexiga Urinária Hiperativa/diagnóstico , Bexiga Urinária Hiperativa/complicaçõesRESUMO
BACKGROUND: The Short Form Qualiveen (SF-Qualiveen) questionnaire assesses the effect of bladder and urinary symptoms on patients' quality of life (QoL) with urological impairment caused by neurological diseases. There is no validated SF-Qualiveen questionnaire in Arabic, so this study aims to provide a translated and validated version of the SF-Qualiveen questionnaire among Arabic-speaking patients with multiple sclerosis (MS). METHODS: The English version of the SF-Qualiveen was translated into Arabic using an algorithm for linguistic and cultural adaptation. MS patients completed the SF-Qualiveen, and the Neurogenic Bladder Symptom Score(NBSS) questionnaire. Psychometric features such as content and construct validity, test-retest reliability, and internal consistency were analyzed. Construct validity was evaluated by contrasting the SF-Qualiveen with the NBSS questionnaire. Internal consistency was measured using Cronbach's alpha, whereas the intraclass correlation coefficient (ICC) was employed to assess the test-retest reliability. RESULTS: One hundred and two patients with MS were included in this study. The internal consistency of the total SF-Qualiveen, and the domains "Bother with limitations," "Fear," "Feeling," and "Frequency of limitations" showed good internal consistency (Cronbach's alpha of > 0.7). ICC was 0.91 for the total score 0.85 for the Bother with limitations, 0.81 for Fears, 0.86 for Feeling, and 0.81 for Frequency of limitations. The correlation analysis revealed a positive association between the total scores on the NBSS and the domains of the SF-Qualiveen, comprising bother with limitations (r = 0.473, p = 0.027), fears (r = 0.611, p = 0.031), feelings (r = 0.572, p = 0.04), and frequency of limitations (r = 0.514, p = 0.013). CONCLUSIONS: The findings of this validation study revealed that the SF-Qualiveen is a reliable and valid instrument appropriate for Arabic-speaking patients with MS in both research and clinical practice.
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Esclerose Múltipla , Bexiga Urinaria Neurogênica , Humanos , Qualidade de Vida , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Comparação Transcultural , Reprodutibilidade dos Testes , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Inquéritos e Questionários , PsicometriaRESUMO
BACKGROUND: The Short-Form Qualiveen (SF-Qualiveen) questionnaire assesses the effect of bladder and urinary symptoms on patients' quality of life (QoL) with urological impairment caused by neurological diseases. There is no validated SF-Qualiveen questionnaire in Arabic, so this study aims to provide a translated and validated version of the SF-Qualiveen questionnaire among Arabic patients experiencing spinal cord injury (SCI). METHODS: Psychometric features such as content and construct validity, test-retest reliability, and internal consistency were analyzed. Construct validity was evaluated by contrasting the SF-Qualiveen with the Neurogenic Bladder Symptom Score Short-Form (NBSS-SF) questionnaire. Internal consistency was measured using Cronbach's alpha, whereas the intraclass correlation coefficient (ICC) was employed to assess the test-retest reliability. Factorial validity was established by principal component analysis (PCA). RESULTS: The internal consistency of the total SF-Qualiveen and the domains "Bother with limitations," "Fear," "Feeling," and "Frequency of limitations" showed good internal consistency (Cronbach's alpha of > 0.7). ICC was 0.90 for the total score, 0.83 for the bother with limitations, 0.80 for fears, 0.84 for feeling, and 0.81 for frequency of limitations. The correlation analysis revealed a positive association between the total scores on the NBSS-SF and the domains of the SF-Qualiveen, comprising bother with limitations (r = 0.53, p = 0.02), fears (r = 0.44, p = 0.03), feelings (r = 0.49, p = 0.04), and frequency of limitations (r = 0.46, p = 0.02). The best-fit four-factor model for confirming overall item communalities ranged from 0.552 to 0.814, which indicates moderate to high communalities, and confirms the homogeneity of the SF-Qualiveen using PCA. CONCLUSIONS: The findings of this validation study revealed that the SF-Qualiveen is a reliable and valid instrument appropriate for Arabic-speaking patients with SCI in both research and clinical practices.
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Traumatismos da Medula Espinal , Bexiga Urinaria Neurogênica , Humanos , Qualidade de Vida , Reprodutibilidade dos Testes , Comparação Transcultural , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Traumatismos da Medula Espinal/diagnóstico , Traumatismos da Medula Espinal/complicações , Inquéritos e Questionários , PsicometriaRESUMO
OBJECTIVE: Inappropriate diagnosis and treatment of asymptomatic bacteriuria (ASB) and urinary tract infection (UTI) are leading causes of antibiotic overuse but have not been well-studied in patients with risks for complicated UTI such as neurogenic bladder (NB). Our aim was to describe ASB and UTI management in patients with NB and assess factors associated with inappropriate management. DESIGN: Retrospective cohort study. SETTING: Four Department of Veteran's Affairs (VA) medical centers. PARTICIPANTS: Adults with NB due to spinal cord injury/disorder (SCI/D), multiple sclerosis (MS), or Parkinson disease (PD) and encounters with an ASB or UTI diagnosis between 2017 and 2018. Clinical and encounter data were extracted from the VA Corporate Data Warehouse and medical record reviews for a stratified sample of 300 encounters from N=291 patients. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Prevalence of appropriate and inappropriate ASB and UTI diagnosis and treatment was summarized. Multivariable logistic regression models assessed factors associated with inappropriate management. RESULTS: N=200 UTI and N=100 ASB encounters were included for the 291 unique patients (SCI/D, 39.9%; MS, 36.4%; PD, 23.7%). Most patients were men (83.3%), >65 years (62%), and used indwelling or intermittent catheterization (68.3%). Nearly all ASB encounters had appropriate diagnosis (98%). 70 (35%) UTI encounters had inappropriate diagnosis, including 55 (27.5%) with true ASB, all with inappropriate treatment. Among the remaining 145 UTI encounters, 54 (27%) had inappropriate treatment. Peripheral vascular disease, chronic kidney disease, and cerebrovascular disease were associated with increased odds of inappropriate management; indwelling catheter (aOR 0.35, P=.01) and Physical Medicine & Rehabilitation provider (aOR 0.29, P<.01) were associated with decreased odds. CONCLUSION: Up to half of UTI encounters for patients with NB had inappropriate management, largely due to inappropriate UTI diagnosis in patients with true ASB. Interventions to improve ASB and UTI management in patients with NB should target complex patients with comorbidities being seen by non-rehabilitation providers.
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Bacteriúria , Doenças da Medula Espinal , Traumatismos da Medula Espinal , Bexiga Urinaria Neurogênica , Infecções Urinárias , Masculino , Adulto , Humanos , Feminino , Bacteriúria/diagnóstico , Bacteriúria/tratamento farmacológico , Estudos Retrospectivos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/terapia , Infecções Urinárias/diagnóstico , Infecções Urinárias/tratamento farmacológico , Infecções Urinárias/epidemiologia , Traumatismos da Medula Espinal/complicaçõesRESUMO
Neurogenic bladder poses a major morbidity in children with spina bifida (SB), and videourodynamic studies (VUDS) are used to stratify this risk. This small-scale pilot study utilized current mass-spectrometry-based proteomic approaches to identify peptides or proteins in urine that may differentiate children at high risk of developing renal complications from a neurogenic bladder. Twenty-two urine samples of which nine had high bladder pressure storage that put the upper urinary tract at risk, while 13 with a lower risk for renal compromise were analyzed. More than 1,900 peptides across all 22 samples were quantified, and 115 peptides differed significantly (P < 0.05) between the two groups. Using machine learning approaches five peptides that showed the greatest differences between these two clinical categories were used to build a classifier. We tested this classifier by blind analysis of an additional six urine samples and showed that it correctly assigned the unknown samples in their proper risk category. These promising results indicate that a urinary screening test based on peptides could be performed on a regular basis to stratify the neurogenic bladder into low or high-risk categories. Expanding this work to larger cohorts as well as across a broad spectrum of urodynamics outcomes may provide a useful diagnostic test for neurogenic bladder.NEW & NOTEWORTHY This approach could help risk stratify the neurogenic bladder in patients with spina bifida and could allow us to safely defer on up to 1/3 of urodynamic studies. These pilot data justify a larger trial before this approach becomes a clinical tool.
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Disrafismo Espinal , Bexiga Urinaria Neurogênica , Criança , Humanos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Projetos Piloto , Proteômica , Bexiga Urinária , Disrafismo Espinal/complicações , Disrafismo Espinal/diagnóstico , Urodinâmica , PeptídeosRESUMO
Neurogenic bladder (NGB) is an encompassing term that includes multiple causes of bladder dysfunction linked to a congenital or acquired neurological condition that adversely impacts the innervation of the lower urinary tract. Multiple static or progressive conditions can be associated with NGB in pediatric and adolescent patients. Currently, spinal dysraphism (i.e., spina bifida) is one of the most common etiologies, which occurs in 3-4 per 10,000 live births in developed nations. Abnormal bladder dynamics can lead to kidney damage secondary to high pressures or recurrent infections, as well as urinary incontinence. The current management paradigm centers on a proactive approach to preserving kidney function and achieving continence through behavioral, pharmacological, and surgical means. This educational review highlights the key components of urological management to maximize collaboration with pediatric nephrologists.
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Disrafismo Espinal , Bexiga Urinaria Neurogênica , Incontinência Urinária , Humanos , Criança , Adolescente , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/terapia , Nefrologistas , Bexiga Urinária , Disrafismo Espinal/complicações , Disrafismo Espinal/terapia , UrodinâmicaRESUMO
INTRODUCTION: Neurogenic bladder was first confirmed as a urological sequela of Congenital Zika Syndrome (CZS) in 2018. Further clinical-epidemiological evidence also confirmed neurogenic bowel dysfunction and cryptorchidism. To strengthen the care for these children, the Congenital Zika Virus Bladder and Bowel Sequelae Network (RASZ in Brazilian) was created, including six integrated centers in Brazil. This article represents the initial outcome of the efforts by RASZ. OBJECTIVE: To evaluate the prevalence of bladder and bowel dysfunction, cryptorchidism and other urological sequelae related to CZS in cohorts attended in six Brazilian states. STUDY DESIGN: Observational, prospective, multicenter study including children with CZS assisted in one of six RASZ collaborative centers between June 2016 and February 2023. Data were collected from patient's first assessment using the same protocols for urological and bowel evaluation. Categorical variables were analyzed by frequency of occurrence and numerical variables by mean, median, and standard deviation. The study was approved by the Research Ethics Committees of each center, all parents/caregivers provided written informed consent. RESULTS: The study included 414 children aged 2 months to 7 years (mean 2.77 years, SD 1.73), 227 (54.8 %) were male and 140 (33,8 %) referred urological and bowel symptoms on arrival. Prevalence of both urological and bowel sequelae was 66.7 %, 51 % of children aged 4 years and older had urinary incontinence (UI). UTI was confirmed in 23.4 % (two presented toxemia) and among males, 18.1 % had cryptorchidism. Renal ultrasonography, performed in 186 children, was abnormal in 25 (13.4 %), 7 had hydronephrosis. Among the 287 children who performed urodynamics, 283 (98.6 %) were altered: 232 had a lower bladder capacity, 144 a maximum bladder pressure of ≥40 cm H2O, and 127 did not satisfactorily empty their bladder. DISCUSSION: A higher prevalence of NLUTD, neurogenic bowel and cryptorchidism was confirmed in children with CZS. Early diagnosis and appropriate treatment, including a multidisciplinary approach, may reduce the risk of UTIs, UI and kidney damage. A limitation of the study was the inability of children to complete the protocol, specifically urodynamic evaluation, and ultrasonography. In both exams, the percentage of abnormal cases was higher than that expected in the normal population. CONCLUSION: A 66,7 % prevalence of combined urological sequelae and bladder-bowel dysfunction related to CZS was confirmed in patients evaluated in six Brazilian cohorts. The most frequent changes were related to NLUTD, neurogenic bowel, and cryptorchidism. Prevalence may be underestimated due to access restrictions to diagnostic tests.
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Criptorquidismo , Enteropatias , Intestino Neurogênico , Bexiga Urinaria Neurogênica , Incontinência Urinária , Infecções Urinárias , Infecção por Zika virus , Zika virus , Criança , Humanos , Masculino , Feminino , Bexiga Urinária/diagnóstico por imagem , Infecção por Zika virus/complicações , Infecção por Zika virus/epidemiologia , Infecção por Zika virus/congênito , Estudos Prospectivos , Intestino Neurogênico/complicações , Criptorquidismo/complicações , Prevalência , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/epidemiologia , Bexiga Urinaria Neurogênica/etiologia , Infecções Urinárias/complicações , UrodinâmicaRESUMO
Objectives: To determine whether assessment and decision-making around urinary symptoms in people with neurogenic lower urinary tract dysfunction (NLUTD) should depend on bladder management. Methods: Three surveys of urinary symptoms associated with NLUTD (USQNBs) were designed specific to bladder management method for those who manage their bladders with indwelling catheter (IDC), intermittent catheter (IC), or voiding (V). Each was deployed one time to a national sample. Subject matter experts qualitatively assessed the wording of validated items to identify potential duplicates. Clustering by unsupervised structural learning was used to analyze duplicates. Each item was classified into mutually exclusive and exhaustive categories: clinically actionable ("fever"), bladder-specific ("suprapubic pain"), urine quality ("cloudy urine"), or constitutional ("leg pain"). Results: A core of 10 "NLUTD urinary symptoms" contains three clinically actionable, bladder-specific, and urine quality items plus one constitutional item. There are 9 (IDC), 11 (IC), and 8 (V) items unique to these instruments. One decision-making protocol applies to all instruments. Conclusion: Ten urinary symptoms in NLUTD are independent of bladder management, whereas a similar number depend on bladder management. We conclude that assessment of urinary symptoms for persons with NLUTD should be specific to bladder management method, like the USQNBs are.
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Traumatismos da Medula Espinal , Bexiga Urinaria Neurogênica , Humanos , Bexiga Urinária , Bexiga Urinaria Neurogênica/terapia , Bexiga Urinaria Neurogênica/diagnóstico , Traumatismos da Medula Espinal/complicações , Cateteres de Demora , Dor/complicaçõesRESUMO
INTRODUCTION: Data on the long-term management of neurogenic bladder (NGB) are scarce. We evaluated the current status of NGB management in Japanese children over 24-month follow-up using the JMDC database. METHODS: In this descriptive, observational, retrospective cohort study, patients (≤ 17 years) with NGB were included. Patient characteristics and their management status were investigated. A multivariate analysis evaluating the potential risk factors for the development of urinary tract infection (UTI) was performed. The diagnosis of spina bifida, demographics, baseline comorbidities, and early use of clean intermittent catheterization (CIC) and/or overactive bladder (OAB) drugs were used as independent variables. RESULTS: Of 883 eligible children, 39.3% had spina bifida. Over 12/24-month post-index periods, renal urinary tract ultrasound and urinalysis were performed at least once in > 35%/> 45% patients, respectively, while specific tests (urodynamics, cystourethrography, scintigraphy) were performed in substantially fewer (< 11%/< 13%) patients. Over 24 months, 21.5% patients used OAB medications (mostly anticholinergics) and 10.8% underwent CIC, alone or with medications; 1.2% patients underwent surgery. Lower UTI (23.3%), urinary incontinence (9.7%), and hydronephrosis (7.0%) were the most common incident complications. Multivariate analysis evaluating risk factors for UTI showed significantly higher odds ratios with point estimates of ≥ 2 for CIC (5.70), presence of spina bifida (2.86), and constipation (2.07). Overall, urodynamic assessments were inadequately performed. CONCLUSION: Patients with use of CIC and/or having spina bifida and constipation had a higher risk of UTI, suggesting the need for careful follow-up. More guideline-compliant and diligent patient management is necessary in Japanese children with NGB.
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Disrafismo Espinal , Bexiga Urinaria Neurogênica , Bexiga Urinária Hiperativa , Infecções Urinárias , Criança , Humanos , Bexiga Urinaria Neurogênica/complicações , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/terapia , Seguimentos , Estudos Retrospectivos , População do Leste Asiático , Infecções Urinárias/complicações , Infecções Urinárias/epidemiologia , Disrafismo Espinal/complicações , Disrafismo Espinal/terapia , Bexiga Urinária Hiperativa/complicações , Constipação Intestinal/etiologia , Constipação Intestinal/complicações , Seguro Saúde , UrodinâmicaRESUMO
INTRODUCTION: Early B-cell factor 3 (EBF3) is a transcription factor involved in neuronal differentiation and maturation. Pathogenic variants are associated with hypotonia, ataxia, and delayed development syndrome (HADDS) (MIM#617330). Urologic manifestations are common and may have implications regarding long term renal function. OBJECTIVE: To review all known patients with pathogenic variants of the EBF3 gene resulting in HADDS with urologic manifestations. We hypothesize a high rate of bladder dysfunction secondary to the EBF3 variant's impact on relaxation of the urinary sphincter leading to detrusor sphincter dyssynergia (DSD). METHODS: The PubMed database was queried for publications of the EBF3 mutation between January 2017 and January 2023. Search terms were "EBF3 mutation OR HADDS AND urology OR phenotype". Retrospective analysis of HADDS patients cared for in our institution was performed. Demographic and clinical information was collected. RESULTS: We identified 52 patients (33F:19M) through literature (28F:18M) and retrospective review (5F:1M). There was a high prevalence of genitourinary physical exam abnormalities, history of urinary tract infection, vesicoureteral reflux (VUR), and diagnosis of neurogenic bladder. Within the literature review cohort, 67% had a urologic diagnosis. Females were disproportionately affected with urologic manifestations. In our cohort, four of six children were diagnosed with VUR and severe voiding dysfunction consistent with neurogenic bladder (67%). These children were managed with a vesicostomy. Five children had bowel dysfunction requiring therapy. Urodynamics suggested a high prevalence of external sphincter dyssynergia. Less severe forms of DSD were felt to be implicated in the abnormal voiding parameters in children who presented later in life based on non-invasive flow studies. DISCUSSION: There is significant variability in the phenotypic presentation of patients with HADDS. While EBF3 plays a clear role in neurodevelopment, it also impacts muscle development and may impact muscle relaxation. The location of the genetic variant may impact the degree of DSD, with more severe forms leading to earlier presentations. Initial work-up should include a renal ultrasound (RUS) and post void residual (PVR). Consideration can be given to obtaining a VCUG, DMSA scan or urodynamic studies. Yearly screening should be pursued with an RUS and PVR in those with an initial unremarkable work-up given the variable timing and severity of presentation. CONCLUSION: Urologic manifestations of HADDS include high rates of bladder dysfunction secondary to DSD, vesicoureteral reflux, urinary tract infection, and cryptorchidism. These patients are at risk of renal deterioration if urinary abnormalities are not properly diagnosed and managed.
Assuntos
Bexiga Urinaria Neurogênica , Infecções Urinárias , Refluxo Vesicoureteral , Masculino , Criança , Feminino , Humanos , Bexiga Urinaria Neurogênica/complicações , Bexiga Urinaria Neurogênica/diagnóstico , Hipotonia Muscular/genética , Hipotonia Muscular/complicações , Estudos Retrospectivos , Ataxia/complicações , Infecções Urinárias/complicações , Urodinâmica/fisiologia , Fatores de TranscriçãoRESUMO
PURPOSE: Patients with neurogenic lower urinary tract dysfunction (nLUTD) can be at risk of preventable damage to the upper urinary tract (UUT), a risk that varies with the underlying diagnosis. Existing literature fails to document precisely which domains of UUT must be followed. This review focusses on surveillance of UUT with special emphasis on high-risk nLUTD. METHODS: Narrative review of available evidence and current global guidelines to identify patients of nLUTD at higher risk of UUT damage and to define each domain that needs to be followed. RESULTS: Patients with open spina bifida, spinal cord injury, and anorectal malformation, as well as those with unsafe features on clinical evaluation or urodynamics should be considered at high risk. Structured program should include evaluation of (1) glomerular filtration rate (GFR) which can be estimated ± measured, (2) renal growth (in pre-pubertal children) by ultrasonography, (3) renal scarring by baseline nuclear renogram, (4) hydronephrosis and stones by ultrasonography, (5) vesicoureteral reflux by baseline video-urodynamics, (6) non-GFR measures of renal function (somatic growth, hypertension, proteinuria, anemia and metabolic acidemia). Serum creatinine-based estimations of GFR are more likely to be confounded in select patients with high-risk nLUTD than cystatin-based estimations and measured-GFR. Urological guidelines do not always describe details of UUT surveillance and appear to lack cognizance of nephrology guidelines for evaluation of kidneys. CONCLUSION: A structured surveillance protocol that includes clear documentation of each domain of the UUT is important in ensuring optimum care for patients with high-risk nLUTD.
Assuntos
Bexiga Urinaria Neurogênica , Sistema Urinário , Criança , Humanos , Bexiga Urinaria Neurogênica/complicações , Bexiga Urinaria Neurogênica/diagnóstico , Seguimentos , Bexiga Urinária , Sistema Urinário/diagnóstico por imagem , Rim , UrodinâmicaRESUMO
PURPOSE: To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB). METHODS: We performed a literature search on EMBASE, MEDLINE, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials between January 1, 2000 to August 21, 2023 for studies investigating the management of spina bifida-associated NB in pediatric patients (0-18 years of age). Proactive management was defined as use of clean intermittent catheterization, and/or anticholinergics at presentation, or based on initial high-risk urodynamic findings by 1 year of age. Delayed management was defined as beginning management after 1 year of age or no intervention. Outcomes included incidence or diagnosis of secondary vesicoureteral reflux (VUR), urinary tract infection (UTI), and renal deterioration, which included renal scarring, loss of differential renal function on a nuclear scan, or a decrease in renal function defined by glomerular filtration rate or serum creatinine estimation. Forest plots were synthesized using the Inverse Variance method with random-effect model. The Risk of Bias was assessed using the ROBINS-I tool. RESULTS: We included 8 observational studies on 652 pediatric patients with spina bifida-associated NB (mean follow-up - 7 years). Proactive management following initial assessment was associated with significantly lower risks of secondary VUR (OR 0.37 [0.19, 0.74], p = 0.004), non-febrile UTI (OR 0.35 [0.19, 0.62], p = 0.0004), and renal deterioration (OR 0.31 [0.20, 0.47], p < 0.00001). DISCUSSION: Delayed management of NB potentially has 3 times higher risks of secondary VUR, non-febrile UTI, and renal deterioration. However, the evidence is limited by the high risk of bias due to lack of randomization and standardized reporting in observational studies. CONCLUSION: While further well-defined prospective studies with long-term follow-up should be conducted to confirm this finding, this study supports the EAU/ESPU recommendations for early intervention in children with NB.
Assuntos
Disrafismo Espinal , Bexiga Urinaria Neurogênica , Infecções Urinárias , Refluxo Vesicoureteral , Criança , Humanos , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/terapia , Estudos Prospectivos , Rim/anormalidades , Refluxo Vesicoureteral/complicações , Infecções Urinárias/terapia , Infecções Urinárias/complicações , Disrafismo Espinal/complicações , Disrafismo Espinal/diagnóstico , Estudos RetrospectivosRESUMO
Micturition requires complex interplay involving bladder, peripheral neural network, spinal cord, and brain. Spinal dysraphism presents variety of neural lesions that may affect this interplay leading to neurogenic bladder. However, the diagnosis of neurogenic bladder in those with spinal dysraphism is often difficult and contrasted to other types of neurogenic bladder caused by complete neural lesions such as spinal cord injury or brain tumor. Typically, neurogenic bladder caused by spinal dysraphism shows lower motor neuron lesion and partial neural injury. However, upper motor signs can be seen with the occurrence of tethered cord syndrome and developmental immaturity of bladder control often complicated by fecal impaction. Thus, the diagnosis of tethered cord syndrome should be made cautiously. Several invasive and noninvasive diagnostic modalities could be applied for accurate diagnosis, preventing renal damage and controlling urinary incontinence. However, it should be borne in mind that no single study is definitive for accurate diagnosis, so it requires careful scrutiny in interpretation. The follow-up scheme of these patients should be determined to detect urological deterioration due to the development of tethered cord syndrome. Since the development of tethered cord syndrome shows diverse nature implicating urological and orthopedic issues, multidisciplinary collaboration is essential for comprehensive care.