Detrusor Sphincter Dyssynergia.

Detrusor sphincter dyssynergia (DSD) is defined as a detrusor contraction concurrent with an involuntary contraction of the urethral and/or periurethral striated muscles typically occurring in a patient with a spinal cord lesion above the sacral cord. Consequently, high urethral closure pressures during the detrusor contraction leads to high intravesical voiding pressure and large postvoid residuals, which can lead to significant complications in up to 50% of patients if DSD is not treated and followed-up regularly. DSD treatment options are centered around symptomatic management rather that addressing the underlying causative mechanisms.

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Purpose: The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.

Methods: Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as part of the National Institute for Health Research BioResource rare-disease and the UK's 100,000 Genomes Project (100KGP) with an additional case identified by exome sequencing. Retrospective clinical data were collected from the medical records.

Is a separate clinical pathway for first seizures justified? Appraisal of the first seizure pathway at a tertiary neuroscience centre.

Objectives: To investigate the clinical characteristics, final diagnosis, investigation results, management, response to anti-seizure medications (ASMs) and clinical outcomes of individuals assessed in a First Seizure service over a 5-year period.

Methods: Retrospective analysis of 772 individuals who were clinically assessed in a dedicated First Seizure service at National Hospital for Neurology & Neurosurgery (NHNN), Queen Square over a 5-year period.

Results: 772 individuals were assessed following a suspected or reported first seizure (median age of 54, average age of 39.

Should we routinely assess psychological morbidities in idiopathic lower urinary tract dysfunction: ICI-RS 2019?

Aims: Psychological morbidities play a major role in idiopathic lower urinary tract dysfunction (iLUTD). The aim of the Think Tank (TT) was to discuss the relevance of psychological morbidities in idiopathic LUTD over the life span, including overactive bladder (OAB) or dysfunctional voiding (DV) and methods of assessment.

Methods: The paper is based on a selective review of the literature and in-depth discussions, leading to research recommendations regarding the assessment of psychological morbidities in iLUTD on children and adults held during the TT of the International Consultation on Incontinence Research Society in 2019.

Urodynamic and gait analyses in multiple system atrophy.

Background: Limited attention has been paid to the relationship between bladder dysfunction and motor disorder in multiple system atrophy (MSA).

Objective: We aimed to correlate pressure-flow urodynamic parameters with video-gait analysis parameters in MSA.

Methods: We recruited 34 patients with MSA: 20 men, 14 women; age 64.

Barriers to the registration and conduct of Cochrane systematic reviews of traditional East Asian medicine therapies.

Introduction: Traditional East Asian medicine (TEAM) is widely used in Asia and increasingly in the West. Systematic reviews (SRs) are the best summaries of the potential benefits or harms of interventions, and Cochrane is a leading international SR organization. Cochrane perspectives on the barriers to the initiation and completion of Cochrane SRs of TEAM therapies were solicited.

A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.

Distal hereditary motor neuronopathies (dHMN) are a genetically heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and progressive distal muscle weakness. A heterozygous missense variant in FBXO38 has been previously described in two families affected by autosomal-dominant dHMN. In this paper, we describe a homozygous missense variant in FBXO38 (c.

Gray vs. White Matter Segmentation of the Conus Medullaris: Reliability and Variability in Healthy Volunteers.

Background And Purpose: Magnetic resonance imaging (MRI)-derived spinal cord (SC) gray and white matter (GM/WM) volume are useful indirect measures of atrophy and neurodegeneration over time, typically obtained in the upper SC. Neuropathological evidence suggests that in certain neurological conditions, early degeneration may occur as low as the sacral SC. In this study, the feasibility of GM/WM segmentation of the conus medullaris (CM) was assessed in vivo.

Feasibility of using a novel non-invasive ambulatory tibial nerve stimulation device for the home-based treatment of overactive bladder symptoms.

Background: To evaluate safety, acceptability and pilot efficacy of transcutaneous low-frequency tibial nerve stimulation (TNS) using a novel device as home-based neuromodulation.

Methods: In this single-centre pilot study, 48 patients with overactive bladder (OAB) (24 with neurogenic and 24 with idiopathic OAB) were randomized to use a self-applicating ambulatory skin-adhering device stimulating transcutaneously the tibial nerve at 1 Hz for 30 minutes, either once daily or once weekly, for 12 weeks. Changes in OAB symptoms and QoL were measured at baseline, weeks 4, 8, and 12 using validated scoring instruments (ICIQ-OAB and ICIQ-LUTSqol), 3-day bladder diary and a Global Response Assessment (GRA) at week 12.

Identifying barriers to help-seeking for sexual dysfunction in multiple sclerosis.

Background: Sexual dysfunction (SD) is common in multiple sclerosis (MS), however, under-reported.

Objective: The aim of this study was to identify barriers faced by patients with MS and healthcare professionals (HCPs) in discussing SD.

Methods: This was a two-part prospective study carried out at a tertiary care centre.

Do we understand voiding dysfunction in women? Current understanding and future perspectives: ICI-RS 2017.

Aims: Urinary retention in women is poorly understood, compared to the equivalent condition in men, and was the subject of a dedicated session organized at the International Consultation on Incontinence Research Society (ICI-RS) in Bristol, United Kingdom, 2017.

Methods: The current understanding of the pathophysiological correlates of idiopathic voiding dysfunction in women, the role of urodynamics, neurophysiology, and non-invasive tests in characterizing functional bladder outlet obstruction due to a non-relaxing urethral sphincter, and poorly defined diagnosis of detrusor underactivity were reviewed.

Results: Putative factors underlying the pathogenesis of urinary retention following urinary tract infections were discussed.

Which molecular targets do we need to focus on to improve lower urinary tract dysfunction? ICI-RS 2017.

Aims: Update on some molecular targets for new drugs to improve lower urinary tract (LUT) dysfunction.

Methods: Using PubMed, a search for literature on molecular targets in the LUT was performed to identify relevant clinical and animal studies. Keywords were entered as Medical Subject Headings (MeSH) or as text words.

Fibrosis and the bladder, implications for function ICI-RS 2017.

Aims: Most benign bladder pathologies are associated with an increase of extracellular matrix (ECM-fibrosis) and may progress from formation of stiffer matrix to a more compliant structure. The aims were to summarize current knowledge of the origins of bladder fibrosis and consequences in bladder function.

Methods: A meeting at the International Consultation on Incontinence Research Society 2017 congress discussed the above aims and considered paradigms to reduce the extent of fibrosis.

Bladder dysfunction as the initial presentation of multiple system atrophy: a prospective cohort study.

Objectives: Multiple system atrophy (MSA) is a disease that combines autonomic (orthostatic or bladder) with motor [parkinsonian (MSA-P) or cerebellar (MSA-C)] dysfunction. While bladder dysfunction may occur earlier than motor disorders, thus far no prospective study has been available to determine how often and how early bladder autonomic dysfunction predates motor dysfunction in MSA. Therefore, we present data from detailed history-taking in patients with MSA.

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.

Background: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.

Methods: Questionnaire scores measuring LUTS, bowel and sexual symptoms were analysed with descriptive statistics as a cohort and as subgroups (Early/Late-onset and Early/Late-stage FRDA) They were also correlated with validated measures of disease severity including those of ataxia severity, non-ataxic symptoms and activities of daily living.

A Quality Assessment of Patient-Reported Outcome Measures for Sexual Function in Neurologic Patients Using the Consensus-based Standards for the Selection of Health Measurement Instruments Checklist: A Systematic Review.

Context: Impaired sexual function has a significant effect on quality of life. Various patient-reported outcome measures (PROMs) are available to evaluate sexual function. The quality of the PROMs to be used for neurologic patients remains unknown.

Does the appearance of the urethral pressure profile trace correlate with the sphincter EMG findings in women with voiding dysfunction?

Aims: Women with functional voiding dysfunction often experience a "catching" sensation when catheterising and are in general investigated with both urethral pressure profilometry (UPP) and sphincter electromyography (EMG). It is unknown whether the pattern of the UPP trace correlates with this sensation of "catching" or with sphincter EMG findings.

Methods: We reviewed the database of all women with voiding dysfunction who had undergone both sphincter EMG and UPP to assess for any relationship between pattern of UPP trace and "catching" on catheterization and/or sphincter EMG findings.

Cannabinoids for treating neurogenic lower urinary tract dysfunction in patients with multiple sclerosis: a systematic review and meta-analysis.

Objectives: To review systematically all the available evidence on efficacy and safety of cannabinoids for treating neurogenic lower urinary tract dysfunction (NLUTD) in patients with multiple sclerosis (MS).

Patients And Methods: The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Studies were identified by electronic search of the Cochrane register, Embase, Medline, Scopus (last search on 11 November 2016).

Differentiating lower motor neuron syndromes.

Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations.

Open label feasibility study evaluating D-mannose combined with home-based monitoring of suspected urinary tract infections in patients with multiple sclerosis.

Objective: To assess the feasibility of using D-mannose, a natural food supplement, in patients with multiple sclerosis (MS) reporting recurrent urinary tract infections (UTIs) as a preventative.

Methods: A single-center, open-label, feasibility study enrolled patients with MS, using and not using urinary catheters, experiencing recurrent UTIs (≥3/year or ≥2/6 months). Participants were given D-mannose powder 1.

Urologic symptoms and functional neurologic disorders.

The term functional urologic disorders covers a wide range of conditions related broadly to altered function rather than structure of the lower urinary tract, mainly of impaired urine voiding or storage. Confusingly, for a neurologic readership, these disorders of function may often be due to a urologic, gynecologic, or neurologic cause. However, there is a subset of functional urologic disorders where the cause remains uncertain and, in this chapter, we describe the clinical features of these disorders in turn: psychogenic urinary retention; Fowler's syndrome; paruresis (shy-bladder syndrome); dysfunctional voiding; idiopathic overactive bladder, and interstitial cystitis/bladder pain syndrome.