Guidelines for Genome-Scale Analysis of Biological Rhythms.

Genome biology approaches have made enormous contributions to our understanding of biological rhythms, particularly in identifying outputs of the clock, including RNAs, proteins, and metabolites, whose abundance oscillates throughout the day. These methods hold significant promise for future discovery, particularly when combined with computational modeling. However, genome-scale experiments are costly and laborious, yielding "big data" that are conceptually and statistically difficult to analyze.

The driver landscape of sporadic chordoma.

Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases.

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.

Viral hepatitis and Parkinson disease: A national record-linkage study.

Objective: To study associations between viral hepatitis and Parkinson disease (PD).

Methods: A retrospective cohort study was done by analyzing linked English National Hospital Episode Statistics and mortality data (1999-2011). Cohorts of individuals with hepatitis B, hepatitis C, autoimmune hepatitis, chronic active hepatitis, and HIV were constructed, and compared to a reference cohort for subsequent rates of PD.

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.

Calcium supplementation and risk of dementia in women with cerebrovascular disease.

Objective: To determine whether calcium supplementation is associated with the development of dementia in women after a 5-year follow-up.

Methods: This was a longitudinal population-based study. The sample was derived from the Prospective Population Study of Women and H70 Birth Cohort Study in Gothenburg, Sweden, and included 700 dementia-free women aged 70-92 years.

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.

The experience of transitioning from relapsing remitting to secondary progressive multiple sclerosis: views of patients and health professionals.

Purpose: The majority of people with multiple sclerosis (pwMS) initially present with discreet periods of relapses followed by partial remission of symptoms (RRMS). Over time, most pwMS transition to secondary progressive MS (SPMS), characterized by a gradual accumulation of disability. This study aimed to explore the experiences, coping and needs associated with transitioning from RRMS to SPMS.

Recent advances in the genetic neuropathies.

Purpose Of Review: Charcot-Marie-Tooth disease (CMT) is one of the commonest inherited neuromuscular diseases with a population prevalence of 1 in 2500. This review will cover recent advances in the genetics and pathomechanisms of CMT and how these are leading to the development of rational therapies.

Recent Findings: Pathomechanistic and therapeutic target advances in CMT include the identification of the ErbB receptor signalling pathway as a therapeutic target in CMT1A and pharmacological modification of the unfolded protein response in CMT1B.

Disrupting the Grid Cells' Need for Speed.

Hinman et al. demonstrate the presence of two speed signals in the rodent medial entorhinal cortex that are differentially affected by muscimol inactivation of medial septum. The results reveal important constraints on several computational models of grid cell firing.

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.

A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knockout (KO) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission.

Low Circulating Acute Brain-Derived Neurotrophic Factor Levels Are Associated With Poor Long-Term Functional Outcome After Ischemic Stroke.

Background And Purpose: Brain-derived neurotrophic factor (BDNF) plays important roles in brain plasticity and repair, and it influences stroke outcomes in animal models. Circulating BDNF concentrations are lowered in patients with traumatic brain injury, and low BDNF predicts poor recovery after this injury. We sought to investigate whether circulating concentrations of BDNF are altered in the acute phase of ischemic stroke and whether they are associated with short- or long-term functional outcome.

Nocturia in Parkinson's Disease: Why Does It Occur and How to Manage?

Background: Nocturia is one of the commonest nonmotor symptoms in Parkinson's disease (PD) and has a significant impact on quality of life both for patients and their carers. There exists a relation between nocturia and poor sleep quality, falls, and institutionalization. Nocturia may manifest as a result of reduced functional bladder capacity or nocturnal polyuria; however, most often the cause is multifactorial.

Management of neurogenic bladder in patients with multiple sclerosis.

Lower urinary tract (LUT) dysfunction is common in patients with multiple sclerosis and is a major negative influence on the quality of life of these patients. The most commonly reported symptoms are those of the storage phase, of which detrusor overactivity is the most frequently reported urodynamic abnormality. The clinical evaluation of patients' LUT symptoms should include a bladder diary, uroflowmetry followed by measurement of post-void residual urine volume, urinalysis, ultrasonography, assessment of renal function, quality-of-life assessments and sometimes urodynamic investigations and/or cystoscopy.

Transcutaneous Electrical Nerve Stimulation for Treating Neurogenic Lower Urinary Tract Dysfunction: A Systematic Review.

Context: Transcutaneous electrical nerve stimulation (TENS) is a promising therapy for non-neurogenic lower urinary tract dysfunction and might also be a valuable option in patients with an underlying neurological disorder.

Objective: We systematically reviewed all available evidence on the efficacy and safety of TENS for treating neurogenic lower urinary tract dysfunction.

Evidence Acquisition: The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement.

Lower urinary tract dysfunction in patients with functional movement disorders.

Introduction: Functional movement disorders (FMD) are not associated with the kind of structural or biochemical alterations seen in other movement disorders and therefore would be unlikely to be associated with lower urinary tract (LUT) dysfunction. However, LUT symptoms have been observed in patients with FMD.

Objective: To evaluate the frequency and pattern of LUT symptoms, their possible nature and the impact they have on the quality of life of patients with FMD.