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1.
Neurourol Urodyn ; 43(4): 811-817, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38451038

RESUMO

INTRODUCTION: Neurogenic detrusor overactivity (NDO) has a major impact on patients' quality of life and can lead to upper urinary tract complications. Intradetrusor botulinum toxin type A injections are administered as second-line treatment to these patients following the failure of anticholinergic agents. The aim of the DETOX 2 study is to propose a consensus definition of the failure of intradetrusor botulinum toxin injections for NDO in patients presenting spinal cord injury, spina bifida, or multiple sclerosis (MS) with self-catheterization. METHOD: This study followed the method adopted by the French National Authority for Health for recommendations by consensus. Based on a review of the literature and a preliminary survey, a steering committee compiled a questionnaire and selected a rating group comprising 16 experts from the Neuro-Urology Committee of the French Urology Association (cnuAFU) and Genulf. The experts were asked to complete the online questionnaire. At the end of the first round, all participants came together to discuss any disagreements and a second-round online questionnaire was completed to reach a consensus. RESULTS: Thirteen of the 16 experts approached completed both rounds of questionnaires. A strong consensus was reached for two proposals (median score = 9/10) which were therefore included in the definition from the first round: at least one repeat injection of the same botulinum toxin at the same dose must be given to rule out failure on technical grounds and a duration of efficacy <3 months must be considered a failure. At the end of round 2, a relative consensus was reached regarding the clinical criterion defining failure (median score = 7/10) and the urodynamic criterion of failure (median score = 8/10). An additional proposal was selected during this second round on the need for a voiding diary (median score = 8/10). CONCLUSION: The first consensus definition of failure of an intradetrusor injection of TB-A for NDO has been achieved with this study: persistence of detrusor overactivity with maximum detrusor pressures >40 cm H2O and/or a compliance issue and/or persistence of urinary incontinence and/or urgency and/or a number of daily self-catheterizations >8/day and/or efficacy <3 months. This study will help to standardize research on the failure of the intradetrusor botulinum toxin for NDO in clinical practice and clinical research.


Assuntos
Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Bexiga Urinaria Neurogênica , Bexiga Urinária Hiperativa , Incontinência Urinária , Humanos , Toxinas Botulínicas Tipo A/uso terapêutico , Fármacos Neuromusculares/uso terapêutico , Qualidade de Vida , Resultado do Tratamento , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinária Hiperativa/tratamento farmacológico , Incontinência Urinária/complicações , Urodinâmica
2.
J Sex Med ; 19(5): 729-737, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35370100

RESUMO

BACKGROUND: Lower urinary tract Symptoms (LUTS) and Sexual dysfunction (SD) are common in women with MS and affect quality of life. AIM: The aim of this study was to determine the relationship between sexual dysfunction (SD) and overactive bladder in women with Multiple Sclerosis (MS). METHODS: From January 2019 to January 2021, we evaluated 89 female MS patients admitted for LUTS in a Neuro-Urology Department. SD was investigated using the Female Sexual Function Index (FSFI). All subjects completed the Urinary Symptom Profile scale (USP) and Hospital Anxiety and Depression Scale (HAD A/HAD D). Neurological impairment was assessed using the Expanded Disability Status Scale (EDSS). All patients underwent neurological examination and urodynamic studies. Univariate analysis and Multivariate logistic regression analysis were performed to identify predictors of SD in women with MS (FSFI <26.55). OUTCOMES: Primary outcome was to determine the association between sexual dysfunction in women with MS and LUTS (overactive bladder, stress incontinence or voiding dysfunction). RESULTS: Sexual dysfunction (FSFI<26,55) affected 74% of women with MS, even with low physical disabilities (EDSS<5). Univariate analysis showed that overactive bladder was more frequent in SD group, but no statistical difference was found (P < .12). No relationship was found between sexual dysfunction and stress incontinence (P = ,47), voiding dysfunction (P= 0.79) or urinary retention (P= .96). Multivariate logistic regression analysis identified overactive bladder to be an independent predictor of sexual dysfunction [aOR 0.03 (CI 0,0.98)]. Sexual dysfunction was not associated with detrusor overactivity on urodynamic studies or with impairment mobility but was strongly associated with the presence of depression (P < .01). CLINICAL IMPLICATIONS: Sexual disorders in women with MS should be assessed as much as urinary disorder. STRENGTHS AND LIMITATIONS: this study included the largest cohort of women with MS. But the sample was obtained in an outpatient setting with low neurological impairment. CONCLUSION: In our study, SD was frequent affecting young women with no anticholinergic treatment and low physical impairment. Overactive bladder seemed to be independent predictor of sexual dysfunction. Conversely, SD was not associated with detrusor overactivity, neurological impairment, or duration of disease but was strongly associated with depression. Breton FL, Chesnel C, Lagnau P, et al. Is There a Relationship Between Overactive Bladder and Sexual Dysfunction in Women With Multiple Sclerosis?. J Sex Med 2022;19:729-737.


Assuntos
Sintomas do Trato Urinário Inferior , Esclerose Múltipla , Disfunções Sexuais Fisiológicas , Bexiga Urinária Hiperativa , Incontinência Urinária por Estresse , Feminino , Humanos , Sintomas do Trato Urinário Inferior/complicações , Masculino , Esclerose Múltipla/complicações , Qualidade de Vida , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/etiologia , Bexiga Urinária Hiperativa/complicações , Incontinência Urinária por Estresse/complicações , Urodinâmica
3.
Neurourol Urodyn ; 41(8): 1898-1905, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36098451

RESUMO

AIMS: The study aimed to assess the impact of bladder filling rate and fluid temperature during urodynamics on bladder sensations and volume of apparition of detrusor overactivity in patients with multiple sclerosis (PwMS). METHODS: Consecutive PwMS assessed with a standardized urodynamic test including three consecutive cystometries (20 ml/min, 100 ml/min, and 100 ml/min with 4°C fluid (Ice water test [IWT]) between June 2020 and March 2022 were included in this retrospective study. Data collected were bladder sensation with first desire to void (FDV) and strong desire to void (SDV). The presence of detrusor overactivity (DO) and the volume of the first uninhibited detrusor contraction were recorded. RESULTS: One hundred and fifty-seven patients (mean age 47.4 ± 11.8 years, median EDSS 3 IQR[2-5], 73.9% of women) were included. Increased filling rate induced delayed bladder sensations (FDV 219 ± 109 ml vs. 194 ± 100 ml; SDV 349 ± 113 ml vs. 322 ± 124 ml for 100 ml/min and 20 ml/min filling rate, respectively, p < 0.001). Ice water increased bladder sensations with earlier reports of needs to void (FDV 163 ± 99 ml vs. 218 ± 117 ml; SDV 263 ± 104 ml vs. 351 ± 112 ml respectively; p < 0.001). Thirty-four patients had DO during both 20 ml/min and 100 ml/min fillings, without difference in the volume of apparition (p = 0.78). Forty-four patients had DO during both 100 ml/min and IWT. Detrusor overactivity appeared for a reduced volume during IWT compared with room temperature fluid perfusion (-68 ml [-95 to -41]; p < 0.001). CONCLUSION: Filling rate and fluid temperature impact bladder sensations during cystometry in PwMS. Ice water decreased the volume of the first uninhibited detrusor contraction.


Assuntos
Esclerose Múltipla , Doenças da Bexiga Urinária , Bexiga Urinária Hiperativa , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Urodinâmica , Bexiga Urinária , Bexiga Urinária Hiperativa/etiologia , Esclerose Múltipla/complicações , Estudos Retrospectivos , Água , Sensação
4.
Neurourol Urodyn ; 40(4): 1027-1034, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33769589

RESUMO

AIMS: To measure the time required to perform clean intermittent self-catheterization (CISC) in daily life and to assess its impact on adherence and quality of life. METHODS: Patients performing CISC for more than 1 month were invited to participate. At home, patients were asked to complete a 1-day diary to assess the specific duration of the CISC (time from when the equipment and environment are brought together to perform CISC) and the next day to complete a second diary for the total duration of the CISC (starting when the patient intent to self-catheterize to the return to the initial activity, including the displacement, and gathering the required device). Adherence, difficulties with CISC, and quality of life were measured with validated questionnaires: Intermittent Catheterization Satisfaction Questionnaire, Intermittent Catheterization Difficulty Questionnaire, Intermittent Catheterization Adherence Scale, and SF Qualiveen Questionnaire. RESULTS: Thirty-six patients agreed to participate but only 25 patients completed the entire protocol. The participants performed CISC for an average of 7 years. The median specific duration of CISC was 2 min and 23 s (ranging from 47'' to 11'50''). The median total duration of CISC was 3 min and 40 s (1'35''; 18'47''). No significant correlation was found between the duration of CISC and patient characteristics, adherence, difficulty to self-catheterize, or quality of life. CONCLUSION: The time to perform CISC was brief, and less than 2-3 min on average. The impact on adherence and quality of life should be assessed in a larger cohort.


Assuntos
Cateterismo Uretral Intermitente , Qualidade de Vida , Cateterismo , Humanos , Cateterismo Uretral Intermitente/efeitos adversos , Cooperação do Paciente , Estudos Prospectivos , Autocuidado , Cateterismo Urinário
5.
Neurourol Urodyn ; 40(3): 929-937, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33675263

RESUMO

AIM: The COVID-19 pandemic led to limit patients' visits to the neuro-urology department. Telemedicine was seen as a pragmatic solution to provide follow-up care. This study aimed to assess the efficiency and satisfaction of a telephone consultation in neuro-urology. METHODS: During the pandemic, the scheduled medical visits were converted into telephone consultation. For each teleconsultation, the physician assessed the efficiency and the patient-rated global satisfaction of the teleconsultation. The physician and the patient assessed whether this teleconsultation replaced a physical visit. RESULTS: About 358 neurologic patients were included in the study. The mean efficiency of the telephone consultation was 9.3/10 (±1.5). The mean global satisfaction was 9.0/10 (±1.3). The majority of the patients (52.4%) would prefer a physical consultation. 90.2% might convert some clinic visits to teleconsultations in the future. No agreement was found between the patient and the physician when they were asked if the teleconsultation replaced the physical consultation initially scheduled (weight kappa = 0.02; 95% confidence interval = [-0.06 to 0.11]). Cognitive impairment, difficulty to obtain relevant information, and lack of physical examination were unfavorable to the efficiency of the teleconsultation. Cognitive impairment, embarrassing nature of the teleconsultation, and preference for a physical consultation were unfavorable to satisfaction of the patient. CONCLUSION: Telemedicine in neuro-urology was associated with a high satisfaction of the patients and was described as efficient by the physicians. Despite this, the majority of the patients reported a preference for physical consultation. The COVID-19 pandemic might be an opportunity to refine our practices in neuro-urology and to develop telemedicine.


Assuntos
COVID-19 , Satisfação do Paciente , Consulta Remota , Urologia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Telefone
6.
Neurourol Urodyn ; 39(1): 412-419, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31737942

RESUMO

AIM: The aim was to determine which criteria are most influential in guiding the patient's choice of catheter during clean intermittent self-catheterization (CISC) education. METHODS: A questionnaire exploring five traits (catheter design, catheter length, the comfort of use, nurse's explanations, and how easy it was to carry and dispose of the catheter) was administered to all patients who succeeded in performing CISC. The patients had to report the criterion that most influenced their choice, and rate the importance of each criterion from 1 to 4 on a Likert scale (strongly disagree, somewhat disagree, somewhat agree, strongly agree). The study assessed the impact that age, sex, etiology, dependency, motor or sensory upper limb deficiency, and position required to perform CISC may have had on the importance of the different criteria. RESULTS: Seventy-three patients were included (mean age, 50.9 ± 14.3 years). The most important criterion was the nurse's explanations (44%), followed by comfort of handling (32%), the discreet aspect of carrying the catheter (15%), and catheter length (7%). The esthetic aspect was not important for 34% of patients, whereas all the other criteria were important for at least 82% of patients. The comfort of handling was more often a priority for those with motor or sensory upper limb disorders (P < .01). The other characteristics of the patients did not impact the way they prioritized the criteria. CONCLUSION: These results highlight the importance of extensive training for nurses involved in CISC education, as their explanations have the greatest impact on the patient's choice of the catheter.


Assuntos
Cateterismo Uretral Intermitente , Preferência do Paciente , Autogestão , Cateteres Urinários , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Autocuidado , Inquéritos e Questionários
7.
Neurourol Urodyn ; 39(4): 1129-1136, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32163639

RESUMO

AIMS: The primary aim of this study was to assess the relationship between a strong desire to void (SDV) and rectal sensory function in patients with multiple sclerosis (PwMS) and anorectal disorders. The secondary aim was to identify clinical, urodynamic or manometric factors associated with greater rectal sensory function impairment in this population. METHODS: Thirty PwMS (mean age 49.2 ± 10.9 years) with anorectal disorders (constipation and/or fecal incontinence) participated in this observational study. Rectal sensory parameters during anorectal manometry were recorded at a strong desire to void and after urination (PV, post-void). The primary outcome was the desire to defecate volume. Secondary outcomes were first perception and maximum tolerated threshold volumes, presence and modulation of recto-anal inhibitory reflex. RESULTS: The mean desire to defecate volume was 125 ± 59 mL at SDV and 104 ± 64 mL at PV (P < .001). The mean maximum tolerated volume was 167 ± 61 mL at SDV vs 141 ± 64 mL after urination (P = .01). The other parameters were not different between SVD and PV conditions. No predictive factors for greater impairment of rectal sensory function were identified. CONCLUSION: This study suggests a relationship between bladder sensation and thus bladder capacity, and rectal sensory function in PwMS and with anorectal disorders.


Assuntos
Defecação/fisiologia , Incontinência Fecal/fisiopatologia , Esclerose Múltipla/fisiopatologia , Bexiga Urinária/fisiopatologia , Micção/fisiologia , Adulto , Idoso , Canal Anal/fisiopatologia , Constipação Intestinal/fisiopatologia , Feminino , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Reto/fisiopatologia , Sensação/fisiologia , Urodinâmica/fisiologia
8.
Neurourol Urodyn ; 38(4): 1093-1099, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30843273

RESUMO

AIMS: Radical prostatectomy may cause stress urinary incontinence (SUI). We compared continent and incontinent men after radical prostatectomy, in regard to the change of the temporal pattern of pelvic floor activation during cough. METHODS: Twenty-two patients were included in this prospective, multicentric study. All patients gave their informed consent. Simultaneous recordings of electromyographic activity of external anal sphincter (EAS EMG) and external intercostal muscle (EIC EMG) during cough were performed with a pair of pregelled surface electrodes. Cough effort caused an involuntary pelvic contraction. Intercostal muscles recording was chosen because they are one of the muscular components of cough initiation with diaphragm muscle. Twenty-four-hour pad-weighing test was used to quantify urinary incontinence. The primary endpoint was the latency between the onset of EIC EMG and EAS EMG (RT3), during a cough effort. We also measured the contraction time, the maximum EAS EMG activity, and the area under the curve. RESULTS: All the patients were analyzed: 12 continent and 10 with SUI. The median age was 66 years old. Both groups were similar except in term of follow-up. Median latency was increased by -1.7 ms (-47.9; +34.2) to 55.8 ms (+47.5; +80) in patients with SUI (P = 0.0033; Table 2). The duration of the contraction, the maximum EAS EMG activity and the area under the curve were not different. CONCLUSIONS: The latency between the onset of EIC EMG and EAS EMG is increased in patients with SUI after radical prostatectomy. It may be one of the reasons for SUI in these patients.


Assuntos
Contração Muscular/fisiologia , Diafragma da Pelve/fisiopatologia , Prostatectomia/métodos , Incontinência Urinária por Estresse/etiologia , Idoso , Canal Anal/fisiopatologia , Tosse , Eletromiografia , Humanos , Músculos Intercostais/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Prostatectomia/efeitos adversos , Incontinência Urinária por Estresse/fisiopatologia
9.
Neurourol Urodyn ; 38(7): 1953-1957, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31436352

RESUMO

AIMS: To evaluate if urethrovaginal reflux (UVR) is an underestimated cause of insensible or postmicturition incontinence in adult women. METHODS: An observational and retrospective study was carried out on the computerized records of a neuro-urology department. Female patients who had insensible or postmicturition incontinence were investigated. Retrograde and voiding urethrocystography (UCG), urodynamic evaluation, urethral pressure profilometry, and anamnestic and clinical examination had to be available. RESULTS: Among the 79 adult female patients with insensible or postmicturition incontinence in whom the whole set of required evaluations was achieved, 16 had a UVR (mean age 47 ± 15 years). There were no urethral diverticula, urethrocele, vesicovaginal, or urethrovaginal fistula on their UCG. All of them also had a cystoscopy and a CT urography which did not establish any abnormality. CONCLUSIONS: UVR is not an exclusive pathology of children. This mechanism seems to be an underestimated cause of urinary incontinence in adult women. Retrograde and voiding UCG appears to be the gold standard to confirm the intravaginal reflux.


Assuntos
Uretra/fisiopatologia , Incontinência Urinária/etiologia , Micção/fisiologia , Vagina/fisiopatologia , Adulto , Cistoscopia/efeitos adversos , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Bexiga Urinária/fisiopatologia , Incontinência Urinária/fisiopatologia , Urodinâmica , Urografia
10.
Urol Int ; 102(1): 109-112, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30428470

RESUMO

OBJECTIVES: To determine whether diffusion-weighted magnetic resonance imaging (DWMRI), a noninvasive procedure, can contribute to the diagnosis of bladder pain syndrome/interstitial cystitis (BPS/IC). METHODS: The pelvic DWMRI of patients with chronic pelvic pain syndrome was selected between January 2012 and June 2017. A radiologist analyzed the bladder wall signal; he was blinded to the patients' clinical data. According to the 2008 European Society for the Study of Bladder Pain Syndrome/Interstitial Cystitis criteria, 2 groups of patients were determined: BPS/IC and no BPS/IC. The association between BPS/IC and the wall signal intensity was compared. RESULTS: In the 106 patients included, 82 had criteria for BPS/IC and 24 did not. A significant difference in the distribution of the signal was found between the 2 groups (p = 0.01). High signal intensity of the bladder wall was related to the presence of a BPS/IC with a sensitivity of 28% and a specificity of 88%. No signal intensity of the bladder wall was related to the absence of a BPS/IC with a sensitivity of 96% and a specificity of 29%. CONCLUSIONS: In -DWMRI, high bladder wall signal intensity helps to affirm a BPS/IC, whereas the absence of signal helps to exclude the diagnosis. Further studies are needed to confirm these preliminary results.


Assuntos
Cistite Intersticial/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Dor Pélvica/diagnóstico por imagem , Bexiga Urinária/diagnóstico por imagem , Adulto , Idoso , Dor Crônica , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Síndrome
11.
Neurourol Urodyn ; 37(8): 2753-2757, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29953666

RESUMO

AIM: Patients who have successfully acquired the intermittent self-catheterization (ISC) technique can be expected to use it on a long-term basis. The aim of the present study is to present a validated evaluation scale, referred to as the ICAS (Intermittent Catheterization Adherence Scale), which can be used to assess long-term patient adherence to prescribed ISC treatment. METHODS: The scale was validated in neurologic and non neurologic patients in an experienced French neurourology center, between September 2014 and February 2016. Eight items were chosen, providing a relatively objective insight into the degree to which patients reduce the frequency of their ISC procedures. Various factors, including the patients' understanding of the procedure, its relevance to their specific condition, as well as their acceptance of its psychological and inherently time-consuming drawbacks, were evaluated. The ISC construct validity and reproducibility, based on internal test-retest consistency and test-retest reliability, were measured using the Intra-class Correlation Coefficient (ICC). RESULTS: The ICAS was validated in 222 patients (133 females, 89 males, mean age 53 ± 11 years). The patients' comprehension of the questions was found to be good, and the questionnaire was well accepted. Cronbach's alpha was 0.73. The ICC test-retest consistency was also found to be good. CONCLUSION: The ICAS is a simple, acceptable, valid and reproducible test, and in some cases it may facilitate the medical follow-up of ISC patients. In the clinical environment, it is found to be a valuable tool, which can assist medical staff in the prevention of complications related to ISC non-compliance.


Assuntos
Cateterismo/métodos , Cateterismo Uretral Intermitente , Cooperação do Paciente , Autocuidado , Bexiga Urinaria Neurogênica/terapia , Retenção Urinária/terapia , Adulto , Idoso , Doença Crônica , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Cateterismo Uretral Intermitente/psicologia , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Autocuidado/psicologia , Bexiga Urinaria Neurogênica/etiologia , Retenção Urinária/etiologia
12.
Urol Int ; 101(3): 369-371, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29176310

RESUMO

Marfan syndrome is a genetic disease responsible for causing cardiovascular, eye and musculoskeletal damages. Urinary disorders are not common. We present 4 cases of chronic urinary tract symptoms, with 2 different pathophysiological processes. Three patients presented with spinal cord infarct following aortic dissection surgery. They were affected by an overactive bladder with detrusor overactivity and detrusor-sphincter dyssynergia. One patient complained of voiding dysfunction, possibly related to dural ectasia. Although a rare outcome, urinary disorders may appear in Marfan syndrome, by the occurrence of surgical complications in aortic surgery or possibility of sacral nerve root compression. If so, medical care is necessary to prevent uro-nephrological complications.


Assuntos
Síndrome de Marfan/complicações , Bexiga Urinaria Neurogênica/complicações , Bexiga Urinária Hiperativa/complicações , Doenças Urológicas/complicações , Adolescente , Adulto , Dissecção Aórtica/complicações , Dissecção Aórtica/terapia , Aorta/cirurgia , Feminino , Humanos , Lactente , Masculino , Síndrome de Marfan/terapia , Pessoa de Meia-Idade , Qualidade de Vida , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/terapia , Raízes Nervosas Espinhais/patologia , Resultado do Tratamento , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinária Hiperativa/fisiopatologia , Doenças Urológicas/terapia
13.
Fetal Pediatr Pathol ; 37(6): 387-399, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30633605

RESUMO

OBJECTIVES: To evaluate the frequency of placental pathological lesions in Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder that exhibits etiologic molecular heterogeneity and variable phenotypic expression. MATERIALS AND METHODS: The study included 60 BWS patients with a proven molecular diagnosis and a placental pathological examination. Placentomegaly, placental mesenchymal dysplasia (PMD), chorangioma/chorangiomatosis, and extravillous trophoblastic (EVT) cytomegaly were evaluated and their frequencies in the different molecular subgroups were compared. Immunohistochemistry and fluorescent in situ hybridization (FISH) were performed on EVT cytomegaly. RESULTS: Placentomegaly was found in 70.9% of cases, PMD in 21.7%, chorangioma/chorangiomatosis in 23.3%, and EVT cytomegaly in 21.7%; there was no significant intergroup difference. EVT cytomegaly showed loss of p57 expression, increased Ki67 proliferating index, and polyploidy on FISH analysis. CONCLUSIONS: There was no genotype/epigenotype-phenotype correlation concerning placental lesions in BWS. Diffuse EVT cytomegaly with polyploidy may represent a placental finding suggestive of BWS.


Assuntos
Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patologia , Placenta/patologia , Adulto , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Gravidez , Estudos Retrospectivos
14.
J Urol ; 197(2): 432-437, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27816615

RESUMO

PURPOSE: The aim of this study was to describe nocturia with or without leakage in a population of patients with multiple sclerosis. MATERIALS AND METHODS: This is a retrospective, single center study of 309 patients with multiple sclerosis who were followed at an experienced neurourology center between 2011 and 2013. All patients had daytime urinary symptoms associated with this disorder. Among the patients with nocturia 2 groups were defined, including those with isolated nocturia but without nocturnal urinary incontinence and patients with nocturia associated with nocturnal urinary incontinence. The control group comprised patients without nocturia. The clinical variables and urodynamic data studied were gender, age, EDSS (Expanded Disability Status Scale), the USP (Urinary Symptoms Profile) questionnaire overactive bladder score, bladder capacity, detrusor activity and volume at the first detrusor contraction. RESULTS: Of our patients 53.3% had nocturia, including 35.7% with nocturnal urinary incontinence. The average ± SD USP overactive bladder score was statistically greater in patients with nocturia than in controls (9.14 ± 4.3 vs 5.1 ± 3.5, p = 8.21E-17). Mean maximum cystometric capacity was statistically higher in the control group than in patients with nocturia (380.17 ± 113.79 vs 313 ± 128.4 ml, p = 5.60E-6). A similar outcome was found for the first contraction (mean 232.58 ± 146.05 vs 181.14 ± 100.11 ml, p = 0.041). CONCLUSION: Isolated nocturia or nocturnal urinary incontinence is a frequent problem encountered with multiple sclerosis. Our results suggest that an overactive detrusor is the main mechanism. Further studies are needed to verify the complications arising from nocturia.


Assuntos
Esclerose Múltipla/complicações , Noctúria/epidemiologia , Bexiga Urinária Hiperativa/epidemiologia , Incontinência Urinária/epidemiologia , Urodinâmica , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/fisiopatologia , Noctúria/etiologia , Noctúria/fisiopatologia , Estudos Retrospectivos , Bexiga Urinária/fisiopatologia , Bexiga Urinária Hiperativa/etiologia , Bexiga Urinária Hiperativa/fisiopatologia , Incontinência Urinária/etiologia , Incontinência Urinária/fisiopatologia , Adulto Jovem
15.
Neurourol Urodyn ; 35(1): 85-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25327888

RESUMO

AIMS: Once a catheterization technique has been learned and acquired, psychological barriers have been overcome and a specific catheter has been selected, a patient will need to use clean intermittent self-catheterization (CISC) on a long-term basis. Over this long period of time, several technical or anatomical difficulties and local complications may be observed. The aim of this study was to construct and validate a specific test, referred to as the ICDQ (intermittent catheterization difficulty questionnaire), in order to evaluate and quantify patients' difficulties during CISC. METHODS: The questionnaire was validated in neurogenic patients. Thirteen items were chosen, concerning ease of catheter insertion and withdrawal, the presence of pain, limb spasticity, urethral sphincter spasms, and local urethral bleeding during catheterization. The frequency and intensity of these difficulties were scored. The comprehension, relevance, psychological and time consumption acceptance and face validity were evaluated. Reliability (internal consistency and test-retest reliability using the Intraclass Correlation Coefficient [ICC]) was carried out. RESULTS: The ICDQ was validated in 70 neurogenic patients (mean age 51.6 ± 13, 44 females, 26 males). Comprehension and acceptance of the questionnaire were good. Cronbach's alpha was α = 0.88. The ICC demonstrated good test-retest reliability. CONCLUSION: The ICDQ is a valid test for the evaluation of catheter use, and of patients' difficulties during CISC. However, in order to facilitate CISC, we propose the interpretation of ICDQ results, drug combinations such as the use of alpha-blockers or botulinum toxin injections in the external urethral sphincter, or a change of catheter.


Assuntos
Cateterismo Uretral Intermitente/efeitos adversos , Autocuidado/efeitos adversos , Inquéritos e Questionários , Bexiga Urinaria Neurogênica/fisiopatologia , Adulto , Idoso , Feminino , Hemorragia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Reprodutibilidade dos Testes
16.
Pediatr Radiol ; 45(7): 965-76, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25646736

RESUMO

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis.


Assuntos
Colesterol/biossíntese , Erros Inatos do Metabolismo Lipídico/complicações , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Sistema Musculoesquelético/diagnóstico por imagem , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Gravidez , Diagnóstico Pré-Natal , Radiografia , Adulto Jovem
17.
BJU Int ; 112(4): E351-7, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23879917

RESUMO

OBJECTIVES: To determine whether a strong urge to void could affect a person's attentional performance. To determine whether an attentional task could decrease a strong urge to void a prospective study was performed. SUBJECTS AND METHODS: Healthy adults were asked to perform two neuropsychological tests, the modified Paced Auditory Serial Addition Test (mPASAT) and the Psychology Experiment Building Language Continuous Performance Test (pCPT), under two different conditions: no need to void, and a strong urge to void defined by a score of >70/100 mm on a visual analogue scale. RESULTS: In all, 21 healthy volunteers were included. There was no statistical difference between the mPASAT scores from the two sessions (P = 0.57). The mean total error score of the pCPT increased with the individual's urge to void (P = 0.043). The mean omission score decreased, but was not statistically different (P = 0.129), the commission error score increased with the urge to void (P = 0.017), with a shorter reaction time for the inter-stimuli intervals of 1 (P<0.001) and 2 s (P = 0.036), suggesting a tendency to hurry. CONCLUSIONS: A strong urge to void can alter attentional performance, with a tendency to hurry, in healthy volunteers taking part in a sustained attention test pCPT involving the use of the anterior cingulate cortex.


Assuntos
Atenção , Micção/fisiologia , Adulto , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Adulto Jovem
18.
Ann Phys Rehabil Med ; 65(2): 101539, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33984538

RESUMO

BACKGROUND: Clean intermittent catheterization (CIC) is the reference treatment of urinary retention in people with multiple sclerosis (pwMS). Predicting which patients could use this treatment, based on their motor and cognitive abilities, is crucial. OBJECTIVES: To determine whether the Functional Independence Measure (FIM), used to assess degree of disability, can predict the outcome of CIC training in pwMS. METHODS: All pwMS attending a tertiary neuro-urology department between 2011 and 2019 and eligible for CIC were included in this retrospective study. Level of disability was assessed with the FIM by an occupational therapist. Success for learning CIC, defined as the ability to perform at least 2 trials of the technique, was recorded at the end of the session by a continence nurse and a physiatrist. The association between the FIM and success for learning CIC was assessed by multivariable analysis. RESULTS: We included 395 patients (mean [SD] age 49.8 [12.0] years; 70% women). More than half of patients had relapsing-remitting disease, and the Expanded Disability Status Scale score was≥6. Mean FIM total, motor and cognitive scores were 108.0 (14.2), 75.9 (12.3) and 32.1 (3.7), respectively (maximal scores: 126, 91 and 35). At the end of the session, 87% of patients were successful in learning CIC. After adjustment of potential confounding variables including age, sex, obesity and EDSS score, FIM total, motor and cognitive subscores were significantly associated with success (odds ratio [95% confidence interval] 1.06 [1.03-1.08], 1.05 [1.03-1.08], 1.21 [1.12-1.32], respectively). CONCLUSIONS: FIM was an independent predictor of successful CIC training in pwMS. A 1-point increase in FIM was associated with 6% increased odds of successfully mastering the CIC technique. A widespread use of the FIM could help determine the different cognitive and/or motor objectives that need to be improved before CIC teaching.


Assuntos
Pessoas com Deficiência , Cateterismo Uretral Intermitente , Esclerose Múltipla , Feminino , Estado Funcional , Humanos , Cateterismo Uretral Intermitente/efeitos adversos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Estudos Retrospectivos
19.
Neurourol Urodyn ; 30(8): 1467-72, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21717506

RESUMO

AIMS: Micturition and continence are largely under the control of the autonomic nervous system (ANS). In this study, we analyzed ANS function using autonomic cardiovascular (CV) testing in females with idiopathic overactive bladder syndrome (iOAB) versus control females. Our hypothesis was that ANS dysfunction could comprise part of the pathophysiology of iOAB. METHODS: Twenty-three females with iOAB and 29 controls were enrolled into this prospective study. Patients performed CV autonomic testing, including two sympathetic tests (hand grip exercise and cold pressor test), two parasympathetic tests (deep breathing and 30:15 ratio), and two mixed tests (Valsalva manoeuvre and blood pressure [BP] response to standing). Patients with iOAB also underwent conventional urodynamic studies in order to define iOAB as either with or without demonstrable detrusor overactivity (DO). RESULTS: Both groups were similar with respect to age and menopausal status. Females with iOAB had significantly more positive tests than controls (P < 0.0001), particularly for sympathetic tests (P < 0.0001). Among the iOAB group, the sympathetic tests (P = 0.03) were significantly more often positive in patients without DO (based on cystometry) compared to patients with DO, with the results being particularly significant for the cold pressor test (P = 0.02). No differences were found among iOAB sufferers with respect to a past history of enuresis. CONCLUSIONS: These results suggest ANS dysfunction, predominantly a sympathetic ANS dysfunction, is associated with iOAB, specifically in patients with iOAB without DO.


Assuntos
Doenças do Sistema Nervoso Autônomo/fisiopatologia , Sistema Nervoso Autônomo/fisiopatologia , Bexiga Urinária Hiperativa/fisiopatologia , Bexiga Urinária/inervação , Incontinência Urinária de Urgência/fisiopatologia , Adulto , Doenças do Sistema Nervoso Autônomo/diagnóstico , Pressão Sanguínea , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Temperatura Baixa , Técnicas de Diagnóstico Cardiovascular , Técnicas de Diagnóstico Neurológico , Feminino , Força da Mão , Frequência Cardíaca , Humanos , Pessoa de Meia-Idade , Paris , Postura , Valor Preditivo dos Testes , Estudos Prospectivos , Mecânica Respiratória , Bexiga Urinária/fisiopatologia , Bexiga Urinária Hiperativa/diagnóstico , Incontinência Urinária de Urgência/diagnóstico , Urodinâmica , Manobra de Valsalva
20.
Int J Colorectal Dis ; 26(4): 507-13, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21193913

RESUMO

BACKGROUND: Rectoanal inhibitory reflex (RAIR) is a physiological modulated reflex involved in anorectal continence and defined by a relaxation of internal anal sphincter following rectal distension. Its existence depends on intramural autonomic ganglions and its modulation on the integrity of the autonomic nervous system (ANS). AIMS: The aim of this study was to analyse RAIR modulation in terms of amplitude and duration in multiple sclerosis (MS) patients. METHODS: Twenty-one patients with MS and 40 control patients had anorectal manometry. Qualitative assessment (presence or absence) of RAIR was evaluated together with its modulation in amplitude and in duration. RESULTS: All patients had present RAIR for each volume of rectal distension (10-50 ml). Seven patients (33.3%) in the MS group had abnormal RAIR modulation in amplitude (odds ratio (OR) = 2.78, compared to control group, p = 0.11). Nine patients (42.9%) in the MS group had abnormal RAIR modulation in duration (p = 0.14, OR = 2.54, compared to control group). Alteration of RAIR modulation was not correlated with Expanded Disability Status Scale, faecal incontinence and constipation (p > 0.05). Course of MS (relapsing-remitting MS or secondary progressive form) seems to be correlated to alteration of modulation in amplitude and in duration (OR = 1.31 and 1.07). CONCLUSION: Even if our results do not have the required statistical significance (p > 0.05), they are interesting. If RAIR is always present in MS, its modulation seems to be altered. A hypothesis for this lack of RAIR modulation could be the alteration of ANS, often involved in MS besides somatic nervous system lesions.


Assuntos
Canal Anal/fisiopatologia , Esclerose Múltipla/fisiopatologia , Reto/fisiopatologia , Reflexo Abdominal/fisiologia , Adulto , Idoso , Estudos de Casos e Controles , Cateterismo , Feminino , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Adulto Jovem
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