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Introduction:Accurately assessing people’s gait, especially in real-world conditions and in case of impaired mobility, is still a challenge due to intrinsic and extrinsic factors resulting in gait complexity. To improve the estimation of gait-related digital mobility outcomes (DMOs) in real-world scenarios, this study presents a wearable multi-sensor system (INDIP), integrating complementary sensing approaches (two plantar pressure insoles, three inertial units and two distance sensors). Methods:The INDIP technical validity was assessed against stereophotogrammetry during a laboratory experimental protocol comprising structured tests (including continuous curvilinear and rectilinear walking and steps) and a simulation of daily-life activities (including intermittent gait and short walking bouts). To evaluate its performance on various gait patterns, data were collected on 128 participants from seven cohorts: healthy young and older adults, patients with Parkinson’s disease, multiple sclerosis, chronic obstructive pulmonary disease, congestive heart failure, and proximal femur fracture. Moreover, INDIP usability was evaluated by recording 2.5-h of real-world unsupervised activity. Results and discussion:Excellent absolute agreement (ICC >0.95) and very limited mean absolute errors were observed for all cohorts and digital mobility outcomes (cadence ≤0.61 steps/min, stride length ≤0.02m, walking speed ≤0.02m/s) in the structured tests. Larger, but limited, errors were observed during the daily-life simulation (cadence 2.72–4.87 steps/min, stride length 0.04–0.06m, walking speed 0.03–0.05m/s). Neither major technical nor usability issues were declared during the 2.5-h acquisitions. Therefore, the INDIP system can be considered a valid and feasible solution to collect reference data for analyzing gait in real-world conditions.

Accurately assessing people’s gait, especially in real-world conditions and in case of impaired mobility, is still a challenge due to intrinsic and extrinsic factors resulting in gait complexity. To improve the estimation of gait-related digital mobility outcomes (DMOs) in real-world scenarios, this study presents a wearable multi-sensor system (INDIP), integrating complementary sensing approaches (two plantar pressure insoles, three inertial units and two distance sensors). The INDIP technical validity was assessed against stereophotogrammetry during a laboratory experimental protocol comprising structured tests (including continuous curvilinear and rectilinear walking and steps) and a simulation of daily-life activities (SDA, including intermittent gait and short walking bouts). To evaluate its performance on various gait patterns, data were collected on 128 participants from seven cohorts: healthy young and older adults, patients with Parkinson’s disease, multiple sclerosis, chronic obstructive pulmonary disease, congestive heart failure, and proximal femur fracture. Moreover, INDIP usability was evaluated by recording 2.5-hours of real-world unsupervised activity. Excellent absolute agreement (ICC > 0.95) and very limited mean absolute errors were observed for all cohorts and DMOs (cadence ≤ 0.61 steps/min, stride length ≤ 0.02 m, walking speed ≤ 0.02 m/s) in the structured tests. Larger, but limited, errors were observed during the SDA (cadence 2.72–4.87 steps/min, stride length 0.04–0.06 m, walking speed 0.03–0.05 m/s). Neither major technical nor usability issues were declared during the 2.5-hours acquisitions. Therefore, the INDIP system can be considered a valid and feasible solution to collect reference data for analyzing gait in real-world conditions.

As climate warms and the transition from a perennial to a seasonal Arctic sea-ice cover is imminent, understanding melt ponding is central to understanding changes in the new Arctic. NASA's Ice, Cloud and land Elevation Satellite (ICESat-2) has the capacity to provide measurements and monitoring of the onset of melt in the Arctic and on melt progression. Yet ponds are currently not reported on the ICESat-2 standard sea-ice products because of the low resolution of the products, in which only a single surface is determined. The objective of this paper is to introduce a mathematical algorithm that facilitates automated detection of melt ponds in ICESat-2 ATLAS data, retrieval of two surface heights, pond surface and bottom, and measurements of depth and width of melt ponds. With the Advanced Topographic Laser Altimeter System (ATLAS), ICESat-2 carries the first space-borne multi-beam micro-pulse photon-counting laser altimeter system, operating at 532~nm frequency. ATLAS data are recorded as clouds of discrete photon points. The Density-Dimension Algorithm for bifurcating sea-ice reflectors (DDA-bifurcate-seaice) is an auto-adaptive algorithm that solves the problem of pond detection near the 0.7m nominal alongtrack resolution of ATLAS data, utilizing the radial basis function for calculation of a density field and a threshold function that automatically adapts to changes in background, apparent surface reflectance and some instrument effects. The DDA-bifurcate-seaice is applied to large ICESat-2 data sets from the 2019 and 2020 melt seasons in the multi-year Arctic sea-ice region. Results are evaluated by comparison to those from a manually forced algorithm.

Background: Measuring mobility in daily life entails dealing with confounding factors arising from multiple sources, including pathological characteristics, patient specific walking strategies, environment/context, and purpose of the task. The primary aim of this study is to propose and validate a multi-task and multi-phase protocol for simulating real-world gait accounting for all these factors within a single set of observations carried out within a limited laboratory space, while ensuring minimisation of participant burden and safety.Methods: The protocol included eight motor tasks at varying speed, incline/steps, surface, path shape, cognitive demand, and included postures that may abruptly alter the participants’ strategy of walking. It was deployed in a convenience sample of 108 participants recruited from six cohort groups that included older healthy adults (HA) and participants with potentially altered mobility due to Parkinson’s Disease (PD), Multiple Sclerosis (MS), Proximal Femoral Fracture (PFF), Chronic Obstructive Pulmonary Disease (COPD) or Congestive Heart Failure (CHF). A novelty introduced in the protocol was the tiered approach to increase difficulty both within the same task (e.g., by allowing use of aids or armrests) and across tasks.Results: The protocol proved to be safe and feasible and the addition of the more complex tasks allowed a much greater spread in walking speeds to be achieved compared to standard straight walking trials. Furthermore, it allowed a relatively realistic representation of daily life relevant mobility aspects and can therefore be used for the validation of monitoring devices used in real life.Conclusions: The suitability of the protocol for measuring gait in a variety of pathological conditions suggests that it can also be used to detect changes in gait due to, for example, the onset or progression of a disease, or due to therapy.Trial registration: ISRCTN – 12246987.

Background: Measuring mobility in daily life entails dealing with confounding factors arising from multiple sources, including pathological characteristics, patient specific walking strategies, environment/context, and purpose of the task. The primary aim of this study is to propose and validate a protocol for simulating real-world gait accounting for all these factors within a single set of observations, while ensuring minimisation of participant burden and safety. Methods: The protocol included eight motor tasks at varying speed, incline/steps, surface, path shape, cognitive demand, and included postures that may abruptly alter the participants' strategy of walking. It was deployed in a convenience sample of 108 participants recruited from six cohorts that included older healthy adults (HA) and participants with potentially altered mobility due to Parkinson's disease (PD), multiple sclerosis (MS), proximal femoral fracture (PFF), chronic obstructive pulmonary disease (COPD) or congestive heart failure (CHF). A novelty introduced in the protocol was the tiered approach to increase difficulty both within the same task (e.g., by allowing use of aids or armrests) and across tasks. Results: The protocol proved to be safe and feasible (all participants could complete it and no adverse events were recorded) and the addition of the more complex tasks allowed a much greater spread in walking speeds to be achieved compared to standard straight walking trials. Furthermore, it allowed a representation of a variety of daily life relevant mobility aspects and can therefore be used for the validation of monitoring devices used in real life. Conclusions: The protocol allowed for measuring gait in a variety of pathological conditions suggests that it can also be used to detect changes in gait due to, for example, the onset or progression of a disease, or due to therapy. Trial registration: ISRCTN-12246987. This work was supported by the Mobilise-D project that has received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU) under grant agreement No. 820820. This JU receives support from the European Union’s Horizon 2020 research and innovation program and the European Federation of Pharmaceutical Industries and Associations (EFPIA). This study was also supported by the National Institute for Health Research (NIHR) through the Sheffield Biomedical Research Centre (BRC, Grant Number IS-BRC-1215–20017). AY, LA, LR and SDD are also supported by the National Institute for Health Research (NIHR) Newcastle Biomedical Research Center (BRC) based at Newcastle Upon Tyne Hospital NHS Foundation Trust and Newcastle University. AY, LA, LR and SDD are also supported by the NIHR/Wellcome Trust Clinical Research Facility (CRF) infrastructure at Newcastle upon Tyne Hospitals NHS Foundation Trust. ISGlobal acknowledges support from the Spanish Ministry of Science and Innovation through the “Centro de Excelencia Severo Ochoa 2019–2023” Program (CEX2018-000806-S), and from the Generalitat de Catalunya through the CERCA Program. All opinions are those of the authors and not the funders. Neither IMI nor the European Union, EFPIA, NHS, NIHR, DHSC or any Associated Partners are responsible for any use that may be made of the information contained herein.

Pathological gait is often associated with a lack of symmetry. A possible way to quantify this feature is to use acceleration data measured by a sensor located on the lower trunk. The most common approach calculates a symmetry index starting from the autocorrelation function, aiming to measure the divergence in motion of the left and right sides of the body. The various methods proposed to implement this approach are based on nonlinear and discontinuous functions, and the interpretation of their output is far from straightforward. The aim of this study was to propose a linear and easier to interpret quantification measure for gait asymmetry. The proposed measure was tested on data from healthy controls and from patients with Multiple Sclerosis and Parkinson’s Disease, and it was shown to negate the flaws present in previous methods and to provide more directly interpretable results. This work was supported by the Mobilise-D project that has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No. 820820. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation program and the European Federation of Pharmaceutical Industries and Associations (EFPIA). Content in this publication reflects the authors’ view and neither IMI nor the European Union, EFPIA, or any Associated Partners are responsible for any use that may be made of the information contained herein.

Author(s): MacGregor, JA; Boisvert, LN; Medley, B; Petty, AA; Harbeck, JP; Bell, RE; Blair, JB; Blanchard-Wrigglesworth, E; Buckley, EM; Christoffersen, MS; Cochran, JR; Csatho, BM; De Marco, EL; Dominguez, RAT; Fahnestock, MA; Farrell, SL; Gogineni, SP; Greenbaum, JS; Hansen, CM; Hofton, MA; Holt, JW; Jezek, KC; Koenig, LS; Kurtz, NT; Kwok, R; Larsen, CF; Leuschen, CJ; Locke, CD; Manizade, SS; Martin, S; Neumann, TA; Nowicki, SMJ; Paden, JD; Richter-Menge, JA; Rignot, EJ; Rodriguez-Morales, F; Siegfried, MR; Smith, BE; Sonntag, JG; Studinger, M; Tinto, KJ; Truffer, M; Wagner, TP; Woods, JE; Young, DA; Yungel, JK | Abstract: The National Aeronautics and Space Administration (NASA)’s Operation IceBridge (OIB) was a 13-year (2009–2021) airborne mission to survey land and sea ice across the Arctic, Antarctic, and Alaska. Here, we review OIB’s goals, instruments, campaigns, key scientific results, and implications for future investigations of the cryosphere. OIB’s primary goal was to use airborne laser altimetry to bridge the gap in fine-resolution elevation measurements of ice from space between the conclusion of NASA’s Ice, Cloud, and land Elevation Satellite (ICESat; 2003–2009) and its follow-on, ICESat-2 (launched 2018). Additional scientific requirements were intended to contextualize observed elevation changes using a multisensor suite of radar sounders, gravimeters, magnetometers, and cameras. Using 15 different aircraft, OIB conducted 968 science flights, of which 42% were repeat surveys of land ice, 42% were surveys of previously unmapped terrain across the Greenland and Antarctic ice sheets, Arctic ice caps, and Alaskan glaciers, and 16% were surveys of sea ice. The combination of an expansive instrument suite and breadth of surveys enabled numerous fundamental advances in our understanding of the Earth’s cryosphere. For land ice, OIB dramatically improved knowledge of interannual outlet-glacier variability, ice-sheet, and outlet-glacier thicknesses, snowfall rates on ice sheets, fjord and sub-ice-shelf bathymetry, and ice-sheet hydrology. Unanticipated discoveries included a reliable method for constraining the thickness within difficult-to-sound incised troughs beneath ice sheets, the extent of the firn aquifer within the Greenland Ice Sheet, the vulnerability of many Greenland and Antarctic outlet glaciers to ocean-driven melting at their grounding zones, and the dominance of surface-melt-driven mass loss of Alaskan glaciers. For sea ice, OIB significantly advanced our understanding of spatiotemporal variability in sea ice freeboard and its snow cover, especially through combined analysis of fine-resolution altimetry, visible imagery, and snow radar measurements of the overlying snow thickness. Such analyses led to the unanticipated discovery of an interdecadal decrease in snow thickness on Arctic sea ice and numerous opportunities to validate sea ice freeboards from satellite radar altimetry. While many of its data sets have yet to be fully explored, OIB’s scientific legacy has already demonstrated the value of sustained investment in reliable airborne platforms, airborne instrument development, interagency and international collaboration, and open and rapid data access to advance our understanding of Earth’s remote polar regions and their role in the Earth system.

Introduction: Existing mobility endpoints based on functional performance, physical assessments and patient self-reporting are often affected by lack of sensitivity, limiting their utility in clinical practice. Wearable devices including inertial measurement units (IMUs) can overcome these limitations by quantifying digital mobility outcomes (DMOs) both during supervised structured assessments and in real-world conditions. The validity of IMU-based methods in the real-world, however, is still limited in patient populations. Rigorous validation procedures should cover the device metrological verification, the validation of the algorithms for the DMOs computation specifically for the population of interest and in daily life situations, and the users' perspective on the device. Methods and analysis: This protocol was designed to establish the technical validity and patient acceptability of the approach used to quantify digital mobility in the real world by Mobilise-D, a consortium funded by the European Union (EU) as part of the Innovative Medicine Initiative, aiming at fostering regulatory approval and clinical adoption of DMOs.After defining the procedures for the metrological verification of an IMU-based device, the experimental procedures for the validation of algorithms used to calculate the DMOs are presented. These include laboratory and real-world assessment in 120 participants from five groups: healthy older adults; chronic obstructive pulmonary disease, Parkinson's disease, multiple sclerosis, proximal femoral fracture and congestive heart failure. DMOs extracted from the monitoring device will be compared with those from different reference systems, chosen according to the contexts of observation. Questionnaires and interviews will evaluate the users' perspective on the deployed technology and relevance of the mobility assessment. Ethics and dissemination: The study has been granted ethics approval by the centre's committees (London-Bloomsbury Research Ethics committee; Helsinki Committee, Tel Aviv Sourasky Medical Centre; Medical Faculties of The University of Tübingen and of the University of Kiel). Data and algorithms will be made publicly available. Trial registration number: ISRCTN (12246987). We acknowledge support from the Spanish Ministry of Science and Innovation through the “Centro de Excelencia Severo Ochoa 2019-2023” Program (CEX2018-000806-S), and support from the Generalitat de Catalunya through the CERCA Program. SDD, AY and LRo are also supported by the Newcastle Biomedical Research Centre (BRC) based at Newcastle upon Tyne and Newcastle University. CM, BS, LVG and EB are also supported by the Sheffield Biomedical Research Centre (BRC) based at the Sheffield Teaching Hospital and the University of Sheffield. The work was also supported by the NIHR/Wellcome Trust Clinical Research Facility (CRF) infrastructure at Newcastle upon Tyne Hospitals NHS Foundation Trust and the CRF at the Sheffield Teaching Hospital. The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care or the funders.This study was co-funded by the European Union’s Horizon 2020 research and innovation programme and EFPIA via the Innovative Medicine Initiative 2 (Mobilise-D project, grant number IMI22017-13-7-820820). The views expressed are those of the authors and not necessarily those of the IMI, the European Union, the EFPIA, or any Associated Partners. We acknowledge the support of Grünenthal GmbH via the funding of a PhD scholarship directly dedicated to the technical validation protocol.

Physical mobility is essential to health, and patients often rate it as a high-priority clinical outcome. Digital mobility outcomes (DMOs), such as real-world gait speed or step count, show promise as clinical measures in many medical conditions. However, current research is nascent and fragmented by discipline. This scoping review maps existing evidence on the clinical utility of DMOs, identifying commonalities across traditional disciplinary divides. In November 2019, 11 databases were searched for records investigating the validity and responsiveness of 34 DMOs in four diverse medical conditions (Parkinson's disease, multiple sclerosis, chronic obstructive pulmonary disease, hip fracture). Searches yielded 19,672 unique records. After screening, 855 records representing 775 studies were included and charted in systematic maps. Studies frequently investigated gait speed (70.4% of studies), step length (30.7%), cadence (21.4%), and daily step count (20.7%). They studied differences between healthy and pathological gait (36.4%), associations between DMOs and clinical measures (48.8%) or outcomes (4.3%), and responsiveness to interventions (26.8%). Gait speed, step length, cadence, step time and step count exhibited consistent evidence of validity and responsiveness in multiple conditions, although the evidence was inconsistent or lacking for other DMOs. If DMOs are to be adopted as mainstream tools, further work is needed to establish their predictive validity, responsiveness, and ecological validity. Cross-disciplinary efforts to align methodology and validate DMOs may facilitate their adoption into clinical practice. The Mobilise-D project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement no. 820820. This Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation program and the European Federation of Pharmaceutical Industries and Associations (EFPIA). This publication reflects the authors’ views and neither IMI nor the European Union, EFPIA, or any Associated Partners are responsible for any use that may be made of the information contained herein. H.D. is a postdoctoral research fellow of the FWO-Flanders. ISGlobal acknowledges support from the Spanish Ministry of Science, Innovation, and Universities through the “Centro de Excelencia Severo Ochoa 2019–2023” Program (CEX2018-000806-S), and support from the Generalitat de Catalunya through the CERCA Program.

Escherichia coli strains encoding colibactin (pks), hemolysin-associated cytotoxic necrotizing factor (cnf), and cytolethal distending toxin (cdt) are associated with intestinal inflammation and cancer, urinary tract infection, and septicemia in susceptible hosts. Over a 2-year period, an inbred laboratory colony of specific-pathogen free (SPF) cats (∼25) presented with resorptions, stillbirths, and pyometras in50 % of pregnancies. Hemolytic E. coli were cultured from vaginal and preputial swabs of clinically normal, intact males, healthy kittens, and placenta and fetal tissues of a dam with reproductive disorders. We hypothesized cats from this colony were colonized with cytotoxin-encoding E. coli. 27 E. coli isolates were cultured from 20 fresh feces representing the majority of cats with and without fertility failures. Two E. coli isolates were also cultured from vaginal swabs from the same cat. 22 isolates (75.9 %) demonstrated hemolysis on blood agar. Twelve isolates (41.4 %) were pks+, 14 (48.3 %) were cnf+, and 10 (34.5 %) were cdt+ by PCR. Serotypes and virulence factor profiles were consistent with the extraintestinal E. coli (ExPEC) pathotype. Antibiotic resistance to cephalothin was exhibited in 13/14 representative isolates. Whole genome sequence analysis of 3 representative isolates confirmed the hemolysin-associated cnf, cdt, and the pks gene island. Representative isolates were cytotoxic to cervical epithelial cells in vitro. This study indicated ExPEC were present in SPF cats with a history of reproductive failure. While causality cannot be established, it is probable ExPEC was associated with impaired reproductive health and breeding success. Since treatment of the colony with cefovecin, reproductive performance has appreciably improved.

The Advanced Topographic Laser Altimeter System (ATLAS) on ICESat-2 offers a new remote sensing capability to measure complex sea ice surface topography. We demonstrate the retrieval of six sea ice...

IntroductionThere are no disease-modifying treatments for Parkinson’s disease (PD). We undertook the first drug screen in PD patient tissue and idntified ursodeoxycholic acid (UDCA) as a promising mitochondrial rescue agent. The aims of this trial are to determine safety and tolerability of UDCA in PD at 30 mg/kg, confirm the target engagement of UDCA, apply a novel motion sensor-based approach to quantify disease progression objectively, and estimate the mean effect size and its variance on the change in motor severity.Methods and analysisThis is a phase II, two-centre, double-blind, randomised, placebo-controlled trial of UDCA at a dose of 30 mg/kg in 30 participants with early PD. Treatment duration is 48 weeks, followed by an 8-week washout phase. Randomisation is 2:1, drug to placebo. Assessments are performed at baseline, week 12, 24, 36, 48 and 56. The primary outcome is safety and tolerability. Secondary outcomes will compare the change between baseline and week 48 using the following three approaches: the Movement Disorders Society Unified Parkinson’s Disease Rating Scale Part 3 in the practically defined ‘OFF’ medication state; confirmation of target engagement, applying 31Phosphorus MR Spectroscopy to assess the levels of ATP and relevant metabolites in the brain; and objective quantification of motor impairment, using a validated, motion sensor-based approach. The primary outcome will be reported using descriptive statistics and comparisons between treatment groups. For each secondary outcome, the change from baseline will be summarised within treatment groups using summary statistics and appropriate statistical tests assessing for significant differences. All outcomes will use an intention-to-treat analysis population.Ethics and disseminationThis trial has been approved by the East of England – Cambridgeshire and Hertfordshire Research Ethics committee. Results will be disseminated in peer-reviewed journals, presentations at scientific meetings and to patients in a lay-summary format.Trial registration numberNCT03840005.

Step detection is commonly performed using wearable inertial devices. However, methods based on the extraction of signals features may deteriorate their accuracy when applied to very slow walkers with abnormal gait patterns. The aim of this study is to test and validate an innovative step counter method (DiSC) based on the direct measurement of inter-leg distance. Data were recorded using an innovative wearable system which integrates a magneto-inertial unit and multiple distance sensors (DSs) attached to the shank. The method allowed for the detection of both left and right steps using a single device and was validated on thirteen people affected by multiple sclerosis (0 200 : 0–200 mm; DS 400 : 0–400 mm). Accuracy was evaluated by comparing the estimates of the DiSC method against video recordings used as gold standard. Preliminary results showed a good accuracy in detecting steps with half the errors in detecting the step of the instrumented side compared to the non-instrumented (mean absolute percentage error 2.4% vs 4.8% for DS 200 ; mean absolute percentage error 2% vs 5.4% for DS 400 ). When averaging errors across patients, over and under estimation errors were compensated, and very high accuracy was achieved (E % 200 ; E % 400 ). DS 400 is the suggested configuration for patients walking with a large base of support.

BackgroundRemote ischaemic preconditioning (RIPC) is the exposure of body parts to brief periods of circulatory occlusion and reperfusion. Recent studies have also shown that RIPC can improve exercise performance in healthy individuals.ObjectiveThis study aimed to assess the effect of RIPC on walking in people with multiple sclerosis (MS).MethodsThis was a double-blind randomised controlled clinical trial. We used three cycles of RIPC delivered by occluding the upper arm with a blood pressure (BP) cuff inflated to a pressure of 30 mm Hg above the systolic BP. In patients in the sham intervention group, the BP cuff was inflated only to 30 mm Hg below diastolic BP. Outcome measures included the Six-Minute Walk Test (6MWT), gait speed, the Borg rate of perceived exertion (RPE) scale, the tolerability of the RIPC using a Numerical Rating Scale for discomfort from 0 to 10, and adverse events. We identified responders meeting the minimal clinically important difference (MCID) established in the literature in each group.ResultsSeventy-five participants completed the study (RIPC: 38 and Sham: 37). The distance walked during the 6MWT improved by 1.9% in the sham group and 5.7% in the RIPC group (p=0.012). The number of responders meeting MCID criteria in the RIPC group was significantly greater compared with the sham intervention group. No serious adverse events occurred.ConclusionSingle cycle of RIPC resulted in immediate improvement in walking distances during 6MWT in people with MS.Trial registration numbersNCT03153553

Thirteen Klebsiella pneumoniae isolates cultured from feces, intestines, liver, lungs, and blood from immunocompromised NOD-scid gamma (NSG) mice with clinical illness, housed at a biomedical research institute, were sequenced using Illumina MiSeq technology for elucidation of pathogenic potential and genes encoding antibiotic resistance.

Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson’s disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Foreign language publications as well as animal and cellular studies were excluded. Searches were conducted through PubMed and Ovid between April and September 2018. A total of 53 publications were identified including 43 case reports, nine cross-sectional studies, and one cohort study. The publication year ranged from 1981 to 2018. The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson’s disease (6 papers). The mean ages of onset of Parkinsonism for these MSDs were 33, 53, and 48 years old, respectively. The Parkinsonian features described in the PKAN and HH patients were invariably atypical while the majority (4/6) of the Wilson’s disease papers had a typical picture. This paper has highlighted a relationship between MSDs and Parkinsonism. However, due to the low-level evidence identified, further research is required to better define what the relationship is.

Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. There is increasing acceptance of gait analysis techniques to quantify subtle gait characteristics that are unmeasurable by current clinical methods This systematic review aims to identify the gait characteristics able to differentiate between Cerebellar Ataxia and healthy controls.Following systematic search and critical appraisal of the literature, gait data relating to preferred paced walking in Cerebellar Ataxia was extracted from 21 studies. A random-effect model meta-analysis was performed for 14 spatiotemporal parameters. Quality assessment was completed to detect risk of bias.There is strong evidence that compared with healthy controls, Cerebellar Ataxia patients walk with a reduced walking speed and cadence, reduced step length, stride length, and swing phase, increased walking base width, stride time, step time, stance phase and double limb support phase with increased variability of step length, stride length, and stride time.The consensus description provided here, clarifies the gait pattern associated with ataxic gait disturbance in a large cohort of participants. High quality research and reporting is needed to explore specific genetic diagnoses and identify biomarkers for disease progression in order to develop well-evidenced clinical guidelines and interventions for Cerebellar Ataxia.

The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans. There is an increased risk of Parkinson's disease (PD) in individuals with 22q11DS. The characteristic motor features of PD begin when more than 50% of dopaminergic neurons in the substantia nigra have degenerated. Before this, there is a prodromal period, of up to 20 years, in which nonmotor features such as hyposmia, autonomic dysfunction, rapid eye movement sleep behavior disorder, and subtle motor dysfunction can occur. We used validated clinical tools to investigate the presence of prodromal markers of PD in 50 adults with 22q11DS and 14 matched deletion-negative controls. The median score on the University of Pennsylvania Smell Identification Test was significantly lower in the 22q11 deletion group, and 44% scored in the hyposmic range (P=0.024). Individuals with 22q11DS were significantly more likely to report autonomic symptoms (urinary dysfunction or constipation, P=0.016). Twenty-eight percent of 22q11DS participants scored above the threshold for rapid eye movement sleep behavior disorder on a screening questionnaire (P=0.022). Four 22q11DS participants had parkinsonian motor signs on examination, which did not fulfill the diagnostic criteria for PD. We report prodromal markers of PD in 22q11DS. These may help identify individuals with 22q11 deletion at risk of neurological disease. However, the significance of these signs needs to be confirmed by longitudinal studies of development of PD.

Background: REACH (Realising Education and Access in Collaborative Health) is an initiative of students of the University of Melbourne to improve access to primary health care services. It is driven by the voluntary commitment of over 120 students and is built upon the principles of collaboration, interprofessionalism and client-centered care. Summary of work: The feasibility of student-led clinics has been demonstrated with the operation of over 100 such clinics in North America. Senior students from Medicine, Physiotherapy, Nursing and Social Work attended a student-run clinics conference in Jacksonville, Florida, USA in 2010. On return, research was conducted to identify a local underserviced community appropriate for a clinic. On review of the literature, it was determined an interprofessional model of care would best serve this community. The student body engaged a local community health service as a project partner. The model of care at the REACH Clinic was developed by senior students from the schools of Medicine, Physiotherapy, Nursing and Social Work and managed by an interconnected student committee structure. The final consultation model involves a triage process and simultaneous consultation by two disciplines. This model of care was successfully implemented during a 4-week pilot period in October 2011. Results: Several issues were identified during the REACH pilot, with dissonance between the at-times competing principles in health care of interprofessionalism, client-centered care and efficient care. Conclusions: An interprofessional model of care was developed and successfully implemented in a 4-week pilot student-run clinic within an established community health service. While providing a free health service, this model facilitated interprofessional learning at both a clinical and management level and highlighted logistical and ideological challenges that served as the basis for further refinement of this model of community service .