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Introduction Laryngospasm is an involuntary sustained closure of sphincter musculature that leads to an unpleasant subjective experience of dyspnea and choking. It is an underreported symptom in amyotrophic lateral sclerosis (ALS). This study aimed to better characterize the prevalence and clinical characteristics of laryngospasm in ALS patients. Methods The medical records of 571 patients with ALS followed between 2008-2018 were searched for evidence of laryngospasm. A total of 23 patients with laryngospasm were identified and data related to patient and laryngospasm characteristics were extracted. Results Laryngospasm was reported in 4% of ALS patients. Females comprised 57% of patients and mean age was 63.4 years. Laryngospasm frequently manifested in patients with moderate bulbar dysfunction and seemed independent of respiratory function. Among laryngospasm patients, 26% were cigarette smokers and 13% had a history of gastroesophageal reflux. The most common reported trigger was excessive saliva irritating the vocal cords (35%) followed by eating a meal (17%). There was significant variation in laryngospasm frequency (up to 5 per hour) and duration (seconds to minutes). Most patients could not identify an effective coping mechanism, although 13% reported that drinking water was effective. Discussion Despite its low prevalence in ALS, laryngospasm should be included in the symptom enquiry. This study may improve patient care through increased recognition of the clinical features of laryngospasm in ALS patients, identifying a link between laryngospasm and moderate bulbar dysfunction, and highlighting trigger avoidance as a management strategy. Additional research is required to understand the pathophysiology and optimal treatment.

Background and Purpose: Elevation of total protein level in cerebrospinal fluid (CSF-TP) in diabetic patients is often disregarded by clinicians. However, existing studies on the topic have significant limitations, and therefore we aimed to explore the relationship between diabetes and CSF-TP in a large database of CSF samples. Methods: Retrospective review of all diagnostic lumbar punctures at the Ottawa Hospital between 1996-2016. Patients were excluded if they had elevated CSF cell counts, or a condition known to elevate CSF-TP. Multivariate linear regression modeling considered the effects of age, sex, and diabetes. Results: Among 6124 patients (746 with diabetes, 5378 without), mean CSF-TP did not differ significantly between groups (0.39 and 0.35 mmol/L, p = 0.2). When controlled for age and sex, there was no significant effect of diabetes on CSF-TP and no significant correlation between mean serum glucose and CSF-TP (R2 = 0.12). Conclusions: CSF-TP did not differ significantly between diabetic and non-diabetic groups, once the influence of age and sex was controlled. Elevated CSF-TP should be regarded as pathologic, even in the setting of diabetes.

Background: Streptococcus pyogenes is a leading cause of infection-related morbidity and mortality. A reinvigorated vaccine development effort calls for new clinically relevant human S pyogenes experimental infection models to support proof of concept evaluation of candidate vaccines. We describe the initial Controlled Human Infection for Vaccination Against S pyogenes (CHIVAS-M75) study, in which we aimed to identify a dose of emm75 S pyogenes that causes acute pharyngitis in at least 60% of volunteers when applied to the pharynx by swab. Methods: This observational, dose-finding study was done in a clinical trials facility in Melbourne (VIC, Australia). Groups of healthy volunteers aged 18–40 years, at low risk of complicated S pyogenes disease, and without high type-specific anti-emm75 IgG antibodies against the challenge strain were challenged and closely monitored as inpatients for up to 6 days, and then as outpatients for 6 months. Antibiotics were started upon diagnosis (clinical signs and symptoms of pharyngitis and a positive rapid molecular test) or after 5 days in those without pharyngitis. Rapid test results were confirmed by standard bacterial culture. After a sentinel participant, cohorts of five and then ten participants were challenged, with protocol-directed dose-escalation or de-escalation for subsequent cohorts. The primary outcome was the proportion of participants at each dose level with pharyngitis by day 5 after challenge. The study is registered with ClinicalTrials.gov, NCT03361163. Findings: Between July 10, 2018, and Sept 23, 2019, 25 healthy adults were challenged with emm75 S pyogenes and included in analyses. Pharyngitis was diagnosed in 17 (85%; 95% CI 62–97) of 20 participants at the starting dose level (1–3 × 105 colony-forming units [CFU]/mL). This high proportion prompted dose de-escalation. At the lower dose level (1–3 × 104 CFU/mL), pharyngitis was diagnosed in one of five participants. Immunological, biochemical, and microbiological results supported the clinical picture, with acute symptomatic pharyngitis characterised by pharyngeal colonisation by S pyogenes accompanied by significantly elevated C-reactive protein and inflammatory cytokines (eg, interferon-γ and interleukin-6), and modest serological responses to streptolysin O and deoxyribonuclease B. There were no severe (grade 3) or serious adverse events related to challenge. Interpretation: We have established a reliable pharyngitis human infection model with reassuring early safety findings to accelerate development of vaccines and other interventions to control disease due to S pyogenes. Funding: Australian National Health and Medical Research Council., SCOPUS: ar.j, info:eu-repo/semantics/published

Myasthenia gravis is a treatable autoimmune disease caused by autoantibodies directed against membrane proteins at the neuromuscular junction. While acetylcholine receptor antibodies are most common, a minority of patients have antibodies directed against muscle-specific kinase (MuSK-antibody). Differentiating features often include subacute onset and rapid progression of bulbar, respiratory and neck extensor muscles, with sparing of distal appendicular muscles, most commonly in middle-aged females. Here we present an atypical presentation of MuSK-antibody myasthenic syndrome in a young male consisting of a gradual-onset, insidiously-progressive, non-fatigable and non-fluctuating ocular, bulbar and oesophageal weakness, with a normal frontalis single fibre EMG. This case clinically resembled a mitochondrial myopathy (Mitochondrial Neurogastrointestinal Encephalopathy-MNGIE) with a poor prognosis. Because of the atypical presentation, MuSK antibodies were identified very late in the disease course, at which point the patient responded very well to immunotherapy. We report an unusual presentation of an uncommon but treatable condition, illustrating significant phenotypic heterogeneity possible in MuSK-antibody myasthenic syndrome.

Background: Oral microbiota has largely escaped attention in Parkinson’s disease (PD), despite its pivotal role in maintaining oral and systemic health. Objective: The aim of our study was to examine the composition of the oral microbiota and the degree of oral inflammation in PD. Methods: Twenty PD patients were compared to 20 healthy controls. Neurological, periodontal and dental examinations were performed as well as dental scaling and gingival crevicular fluid sampling for cytokines measurement (interleukine (IL)-1β, IL-6, IL-1 receptor antagonist (RA), interferon-γ and tumor necrosis factor (TNF)-α). Two months later, oral microbiota was sampled from saliva and subgingival dental plaque. A 16S rRNA gene amplicon sequencing was used to assess bacterial communities. Results: PD patients were in the early and mid-stage phases of their disease (Hoehn & Yahr 2–2.5). Dental and periodontal parameters did not differ between groups. The levels of IL-1β and IL-1RA were significantly increased in patients compared to controls with a trend for an increased level of TNF-α in patients. Both saliva and subgingival dental plaque microbiota differed between patients and controls. Streptococcus mutans, Kingella oralis, Actinomyces AFQC_s, Veillonella AFUJ_s, Scardovia, Lactobacillaceae, Negativicutes and Firmicutes were more abundant in patients, whereas Treponema KE332528_s, Lachnospiraceae AM420052_s, and phylum SR1 were less abundant. Conclusion: Our findings show that the oral microbiome is altered in early and mid-stage PD. Although PD patients had good dental and periodontal status, local inflammation was already present in the oral cavity. The relationship between oral dysbiosis, inflammation and the pathogenesis of PD requires further study.

Rheumatic fever is a serious post-infectious sequela of group A Streptococcus (GAS). Prior GAS exposures were mapped in sera using a large panel of M-type specific peptides. Rheumatic fever patients had serological evidence of significantly more GAS exposures than matched controls suggesting immune priming by repeat infections contributes to pathogenesis.

Background: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) refractory to conventional therapy can lead to marked disability and represents a therapeutic challenge. Objective: To report five cases of treatment-refractory disabling CIDP treated with autologous hematopoietic stem cell transplantation (AHSCT). Methods: This was a retrospective cohort study from a tertiary care referral center for both neuromuscular disease and AHSCT. Patients with CIDP treated with AHSCT between 2008 and 2020 were included. All patients had major persistent and disabling neuropathic deficits despite combinations of intensive immunosuppressive therapy. The primary outcome measures were: Medical Research Council sum score, Overall Neuropathy Limitations Scale and requirement for ongoing CIDP immunotherapy after transplantation. We also analyzed safety outcomes by documenting all severe AHSCT-related complications. Results: Five patients with refractory CIDP underwent AHSCT. Three were classified as manifesting a typical syndrome, two were classified as the multifocal Lewis Sumner variant. The mean age at time of CIDP diagnosis was 33.4 years (range 24–46 years), with a median delay of 46 months (range 21–135 months) between diagnosis and AHSCT. The median follow-up period was 41 months. All five patients were able to wean off CIDP-related immunotherapy. Marked improvements in Medical Research Council scale and overall Neuropathy Limitations Scale were noted in 4/5 patients. One patient with longstanding neurogenic atrophy showed no improvement in disability scales. There were no treatment-related deaths or critical illnesses. Conclusions: AHSCT can achieve marked sustained clinical improvement of refractory CIDP and may allow for weaning off long-term complex immunotherapies.

Scans without evidence of dopaminergic deficit (SWEDD) have been initially described in a minority of subjects with suspected Parkinson’s disease (PD). Although a highly controversial entity, longitudinal studies showed that SWEDD cases mostly involve non-degenerative conditions mimicking PD or misattribution of scan images to normal status. Using the Parkinson’s Progression Markers Initiative (PPMI) cohort, we undertook a case-controlled analysis of [123I]N-ω-fluoropropyl-2β-carbomethoxy-iodophenyl nortropane ([123I]FP-CIT) single photon emission computed tomography (SPECT) images to measure extrastriatal serotonergic transporter (SERT) density in SWEDD and PD. We included 37 SWEDD cases (mean age 60 years, 33 % female) with available [123I]FP-CIT SPECT imaging and high-resolution T1-weighted magnetic resonance imaging (MRI) for coregistration. Sixty-one controls and 62 similarly aged PD subjects were included for group comparisons. Regional [123I]FP-CIT was extracted with PETPVE12 using geometric transfer matrix and partial volume effect correction. PD subjects showed significantly lower [123I]FP-CIT binding in both striatal (caudate nucleus and putamen) and extrastriatal regions (pallidum and insula) compared with controls and SWEDD (all between-group p 75 %) but not for SWEDD (

Background Neuropathological data and nuclear medicine imaging show extensive serotonergic impairment in Parkinson’s disease (PD). We undertook a case-controlled analysis of 123I-FP-CIT SPECT images to measure extrastriatal serotonergic transporters (SERT) in PD using the Parkinson’s Progression Markers Initiative (PPMI) cohort. Methods We included all PD (n = 154) and Control subjects (n = 62) with available 123I-FP-CIT SPECT imaging and high-resolution T1-weighted MRI for coregistration (PD: mean age 61.6 years, 62% male, disease duration 26 months, MDS-UPDRS III score 22). 123I-FP-CIT SPECT images were processed with PETPVE12 using an exploratory voxel-wise analysis including partial-volume effect correction. Linear regressions were performed in the PD group to assess correlations between region of interest 123I-FP-CIT uptake and clinical motor and non-motor impairment. Results Compared to Controls, PD exhibited an uptake reduction in bilateral caudate nucleus, putamen, insula, amygdala and right pallidum (family-wise error (FWE)-corrected p p = 0.022), we found a trend association between higher geriatric depression scale and lower pallidum uptake (p = 0.09). Higher SCOPA-AUT gastrointestinal subscore was associated with lower uptake in mean putamen and caudate nucleus (p = 0.01 to 0.03), whereas urological subscore was inversely correlated with mean caudate nucleus, putamen, and pallidum uptake (p = 0.002 to 0.03). REM sleep behaviour disorder screening questionnaire was associated with lower 123I-FP-CIT binding in caudate nucleus, putamen and pallidum (all p p > 0.45) or excessive daytime sleepiness (all p > 0.29). Conclusions In addition to the well-established striatal deficit, this study provides evidence of a major extrastriatal 123I-FP-CIT impairment, and therefore of an altered serotonergic transmission in early PD.

A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on needle EMG. Tests for acquired and genetic causes of polyneuropathy were unrevealing. The patient’s first-degree cousin, with a much different clinical phenotype had been diagnosed with myofibrillar myopathy. Our patient was eventually found to carry the same myotilin c.179C>T p.Ser60Phe mutation. Muscle MRI was helpful in delineating clinically unsuspected involvement of paraspinal and pelvi-femoral muscles, as well as showing marked myopathic fatty infiltration of distal leg muscles. The association of neuropathy and myopathy is a recognized feature of myofibrillar myopathy. In some patients with unexplained foot drop, whole-body muscle MRI and a dedicated genetic mutation testing strategy may help reveal a diagnosis of genetic myopathy.

Modeling treatment effect could identify a subgroup of individuals who experience greater benefit from disease modifying therapy, allowing for predictive enrichment to increase the power of future clinical trials. We use deep learning to estimate the conditional average treatment effect for individuals taking disease modifying therapies for multiple sclerosis, using their baseline clinical and imaging characteristics. Data were obtained as part of three placebo-controlled randomized clinical trials: ORATORIO, OLYMPUS and ARPEGGIO, investigating the efficacy of ocrelizumab, rituximab and laquinimod, respectively. A shuffled mix of participants having received ocrelizumab or rituximab, anti-CD20-antibodies, was separated into a training (70%) and testing (30%) dataset, but we also performed nested cross-validation to improve the generalization error estimate. Data from ARPEGGIO served as additional external validation. An ensemble of multitask multilayer perceptrons was trained to predict the rate of disability progression on both active treatment and placebo to estimate the conditional average treatment effect. The model was able to separate responders and non-responders across a range of predicted effect sizes. Notably, the average treatment effect for the anti-CD20-antibody test set during nested cross-validation was significantly greater when selecting the model9s prediction for the top 50% (HR 0.625, p=0.008) or the top 25% (HR 0.521, p=0.013) most responsive individuals, compared to HR 0.835 (p=0.154) for the entire group. The model trained on the anti-CD20-antibody dataset could also identify responders to laquinimod, finding a significant treatment effect in the top 30% of individuals (HR 0.352, p=0.043). We observed enrichment across a broad range of baseline features in the responder subgroups: younger, more men, shorter disease duration, higher disability scores, and more lesional activity. By simulating a 1-year study where only the 50% predicted to be most responsive are randomized, we could achieve 80% power to detect a significant difference with 6 times less participants than a clinical trial without enrichment. Subgroups of individuals with primary progressive multiple sclerosis who respond favourably to disease modifying therapies can therefore be identified based on their baseline characteristics, even when no significant treatment effect can be found at the whole-group level. The approach allows for predictive enrichment of future clinical trials, as well as personalized treatment selection in the clinic.

Introduction: Mortality associated with invasive group A streptococcal infections (iGAS) remains high among adults, with lower mortality in children. The added value of both clindamycin and immunoglobulins in such treatment is still controversial, as is the need for antibiotic secondary prophylaxis. It is unlikely that conclusive randomized clinical studies will ever definitively end these controversies. Materials and Methods: A clinical and experimental literature review was conducted in Pubmed, Cochrane, and lay literature to determine the benefit of adding clindamycin and immunoglobulins to β-lactams in the management of iGAS, as well as the need for secondary prophylaxis measures in close contacts. Results: This review includes two meta-analyses, two randomized controlled trials, four prospective studies, five retrospective studies, and microbiological studies. To reduce mortality and morbidity, it appears useful to add clindamycin to β-lactams in severe clinical presentations, including necrotizing fasciitis or streptococcal toxic shock syndrome, and immunoglobulins for the latter two presentations. The high risk of secondary infection in household contacts justifies the need of taking preventive measures. Conclusions: Both clinical studies and available experimental evidence suggest that adding clindamycin and immunoglobulins as adjunctive therapies in the management of invasive group A streptococcal infections may reduce mortality. Household contacts should be warned about the increased risk of secondary infection, and chemoprophylaxis may be considered in certain situations., SCOPUS: re.j, info:eu-repo/semantics/published

ObjectiveTo describe health care service utilization and cost for decedents with and without amyotrophic lateral sclerosis (ALS) in the last year of life.MethodsUsing linked health administrative data, we conducted a retrospective, population-based cohort study of Ontario, Canada, decedents from 2013 to 2015. We examined demographic data, rate of utilization, and cost of health care services in the last year of life.ResultsWe identified 283,096 decedents in Ontario, of whom 1,212 (0.42%) had ALS. Decedents with ALS spent 3 times as many days in an intensive care unit (ICU) (mean 6.3 vs 2.1, p < 0.001), and twice as many days using complex continuing care (mean 12.7 vs 6.0, p < 0.001) and home care (mean 99.1 vs 41.3, p < 0.001). A greater percentage of decedents with ALS received palliative home care (44% vs 20%, p < 0.001) and palliative physician home visits (40% vs 18%, p < 0.001) than decedents without ALS. Among decedents with ALS, a palliative physician home visit in the last year of life was associated with reduced adjusted odds of dying in hospital (odds ratio 0.65, 95% confidence interval 0.48–0.89) and fewer days spent in the ICU. Mean cost of care in the last year of life was greater for those with ALS ($68,311.98 vs $55,773.48, p < 0.001).ConclusionsIn this large population-based cohort of decedents, individuals with ALS spent more days in the ICU, received more community-based services, and incurred higher costs of care in the last year of life. A palliative care physician home visit was associated with improved end of life outcomes; however, the majority of patients with ALS did not access such services.

Deep-brain stimulation (DBS) programming for dystonia patients is a complex and time-consuming task. To analyze whether programming a programming paradigm based on patient’s self-adjustment is practical, effective and time saving in dystonia. We retrospectively compared dystonia rating scales as well as the time necessary to optimize programming and the number of in-hospital visits in all patients (n = 102) operated at our center who used simple mode (SM) or advanced mode (AM) programming; the latter uses groups of different stimulation parameters and allows the patient and their caregiver to change stimulation groups at home, using the patient remote control. Both AM- and SM-allocated patients improved clinically to the same extent after DBS, as assessed by the Burke–Fahn–Marsden (BFM) and the Toronto Western Spasmodic Torticollis (TWSTRS) dystonia rating scales. All subscores improved after DBS without statistically significant differences in improvement between AM and SM (BFM: − 43% vs. − 53%, p = 0.569; TWSTRS: − 63% vs. − 72%, p = 0.781). AM and SM patients reached optimization within a similar median time [5.5 months (95% CI 4.6–6.3) for AM vs. 6.2 months (4.2–7.6) for SM, p = 0.674) but patients on advanced programming needed fewer in-hospital visits to achieve the same improvement [median of 5 visits (95% CI 4–7) for AM vs. 8 visits (7–9) for SM, p = 0.008]. Advanced DBS programming based on patient’s self-adjustment under the supervision of the treating physician is feasible, practical and significantly reduces consultation time in dystonia patients.

Background Invasive group A streptococcal disease (IGAS) carries significant morbidity and mortality in children. Fluctuations in disease incidence are well documented. However, the modulating factors that contribute to these changes remain unclear. Prospective monitoring of IGAS cases in Victoria, Australia, showed an increased number of cases in 2017, coinciding with a peak of influenza illness. Methods Children identified to have IGAS are prospectively monitored in Melbourne through a disease surveillance network. Data on their presentation, investigations, and clinical course are collected. An increased number of cases identified between June 1, 2017, and October 31, 2017, have been retrospectively analyzed. Results We identified 22 cases of pediatric IGAS during the study period. Increased case detection occurred during a period of increased influenza disease. Of 11 children in our cohort who underwent respiratory viral testing, 4 were confirmed to have concurrent respiratory tract illnesses, and 2 were confirmed to have influenza.

Objective Deep brain stimulation (DBS) has become a well-established treatment that significantly improves the motor symptoms of Parkinson's disease (PD). Patients may nevertheless experience psychosocial maladjustment after surgery, as reported by an increasing body of research. Yet, no comprehensive theoretical approach has been proposed to account for this. Initially conceptualized for postsurgical epilepsy, the burden of normality (BoN) may be viewed as a model that is potentially applicable to psychosocial maladjustment after PD-DBS. Method We systematically examined the literature to verify this assumption by scrutinizing the 3 theoretical levels of the BoN, specifically, precursory conditions for the applicability of the model, clinical manifestations of psychosocial maladjustment, and 2 mediating variables: expectations and discarding the roles associated with the pretreatment condition. Results The applicability of the BoN to PD-DBS found support for the first 2 of these 3 levels in 88 scientific articles included in the review. The number of studies that addressed the mediating variables was nevertheless insufficient to draw any definitive conclusion. The degenerative condition of PD further limits the distinction between symptoms pertaining to psychosocial maladjustment and disease progression. Conclusions Considering psychosocial maladjustment through the lens of the BoN is complementary to the traditional medical perspective of PD-DBS and illuminates the potential contribution of specialists from multiple disciplines in clinical rehabilitation. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

Secondary prophylaxis of rheumatic heart diseases is efficient in reducing disease recurrence, heart damage, and cardiac impairment. We aimed to monitor the clinical evolution of a large Brazilian cohort of rheumatic patients under prolonged secondary prophylaxis. From 1986 to 2018, a cohort of 593 patients with rheumatic fever was followed every 6 months by the Reference Center for the Control and Prevention of Rheumatic Fever and Rheumatic Cardiopathy (CPCFR), Paraná, Brazil. In this cohort, 243 (41%) patients did not present cardiac damage (group I), while 350 (59%) were diagnosed with rheumatic heart disease (RHD) (group II) using the latest case definition. Among group II, 233 and 15 patients had impairment of the mitral and aortic valves, respectively, while 102 patients had impairment of both valves. Lesions on the mitral and aortic valves presented a regression in 69.9 and 48.7% of the patients, respectively. Active patient recruitment in the reference center and early detection of oropharyngeal GAS were important factors for optimal adherence to the prophylactic treatment. Patients with disease progression were associated with noncompliance to secondary prophylaxis. No patients undergoing regular prophylaxis presented progression of the rheumatic cardiac disease. Eighteen valvular surgeries were performed, and four (0.7%) patients died. This study confirmed that tailored and active efforts invested in rheumatic heart disease secondary prevention allowed for significant clinical improvement.

Background Dopaminergic (DA) neurons of the substantia nigra pars compacta (SNpc) selectively and progressively degenerate in Parkinson’s disease (PD). Until now, molecular analyses of DA neurons in PD have been limited to genomic and transcriptomic approaches, whereas, to the best of our knowledge, no proteomic or combined polyomic study examining the protein profile of these neurons, is currently available. Methods In this exploratory study, we used laser microdissection to extract DA neurons from 10 human SNpc samples obtained at autopsy in PD patients and control subjects. Extracted RNA and proteins were identified by RNA sequencing and nano-LC-MS/MS, respectively, and the differential expression between the PD and control group was assessed. Results Qualitative analyses confirmed that the microdissection protocol preserves the integrity of our samples and offers access to specific molecular pathways. This polyomic analysis highlighted differential expression of 52 genes and 33 proteins, including molecules of interest already known to be dysregulated in PD, such as LRP2, PNMT, CXCR4, MAOA and CBLN1 genes, or the Aldehyde dehydrogenase 1 protein. On the other hand, despite the same samples were used for both analyses, correlation between RNA and protein expression was low, as exemplified by the CST3 gene encoding for the cystatin C protein. Conclusion This is the first exploratory study analyzing both gene and protein expression of LMD-dissected DA neurons from SNpc in PD. Although correlation between RNA and protein expressions was limited, this polyomic study provides an extensive and integrated overview of molecular changes identified in the PD SNpc and may offer novel insights into specific pathological processes at work in PD degeneration.

INTRODUCTION: COVID-19 is one of the world's major health crises. The objective of this study was to determine the predictive factors of severe hypoxemia in patients hospitalized in COVID-19 health facilities in Burkina Faso. PATIENTS AND METHOD: This study was a hospital-based cross-sectional study. The data collected relate to the period of the first wave of the epidemic (March 9 to June 30, 2020). All patients hospitalized for COVID-19 in the requisitioned health facilities of Ouagadougou were included in this study. Predictors of severe hypoxemia were identified using a multivariate logistic regression model. RESULTS: During the study period, 442 patients were included, representing 45.7% of the total number of positive patients in the entire country. The most common co-morbidities were diabetes (55; 12.4%) and arterial hypertension (97; 21.9%). Severe hypoxemia (SpO2 < 90%) was observed in 64 patients (14.5%). Age over 65 years (OR = 8.24; 95% CI: 2.83-24.01) and diabetes (OR = 2.43; 95% CI: 1.17-5.06) were the predictors for occurrence of severe hypoxemia in multivariate analysis. CONCLUSION: The predictive factors of COVID-19 are similar in African and Caucasian populations. The surveillance of COVID-19 in risk groups should be strengthened to reduce their morbidity and mortality.

To respond to the need of objective screening tools for motor speech disorders (MSD), we present the screening version of a speech assessment protocol (MonPaGe-2.0.s), which is based on semi-automated acoustic and perceptual measures on several speech dimensions in French. We validate the screening tool by testing its sensitivity and specificity and comparing its outcome with external standard assessment tools. The data from 80 patients diagnosed with different types of mild to moderate MSD and 62 healthy test controls were assessed against the normative data obtained on 404 neurotypical speakers, with Deviance Scores computed on seven speech dimensions (voice, speech rate, articulation, prosody, pneumophonatory control, diadochokinetic rate, intelligibility) based on acoustic and perceptual measures. A cut-off of the MonPaGe total deviance score (TotDevS) >2 allowed MSD to be diagnosed with specificity of 95% and an overall sensitivity of 83.8% on all patients pulled, reaching 91% when very mildly impaired patients were excluded. A strong correlation was found between the MonPaGe TotDevS and an external composite perceptual score of MSD provided by six experts. The MonPaGe screening protocol has proven its sensitivity and specificity for diagnosing presence and severity of MSD. Further implementations are needed to complement the characterization of impaired dimensions in order to distinguish subtypes of MSD.

International audience; Hallucinations in Parkinson’s disease (PD) are disturbing and frequent non-motor symptoms and constitute a major risk factor for psychosis and dementia. We report a robotics-based approach applying conflicting sensorimotor stimulation, enabling the induction of presence hallucinations (PHs) and the characterization of a subgroup of patients with PD with enhanced sensitivity for conflicting sensorimotor stimulation and robot-induced PH. We next identify the fronto-temporal network of PH by combining MR-compatible robotics (and sensorimotor stimulation in healthy participants) and lesion network mapping (neurological patients without PD). This PH-network was selectively disrupted in an additional and independent cohort of patients with PD, predicted the presence of symptomatic PH, and associated with cognitive decline. These robotics-neuroimaging findings extend existing sensorimotor hallucination models to PD and reveal the pathological cortical sensorimotor processes of PH in PD, potentially indicating a more severe form of PD that has been associated with psychosis and cognitive decline.

Introduction : Le cancer du sein inflammatoire (CSI), est relativement frequent chez la jeune femme camerounaise. L’objectif etait de presenter les caracteristiques du CSI en milieu camerounais. Patients et methodes : Il s’est agi d’une etude transversale descriptive, multicentrique a collecte retrospective allant du 1er Janvier 2010 au 31 Decembre 2014. Ont ete inclues toutes les femmes de nationalite camerounaise diagnostiquees pour un CSI histologiquement confirme. Resultats : Vingt-et-un cas de CSI ont ete colliges et representaient 3% de l’ensemble des mastopathies dans quatre hopitaux. L’âge moyen des patientes etait de 37,7 ans. Quatorze (66,7%) femmes avaient consulte apres un intervalle superieur a six mois. La localisation de la tumeur etait unilaterale dans tous les cas. Dix-huit (85,7%) des patientes avaient un statut ganglionnaire cliniquement positif. La taille tumorale mediane etait de 5cm. Les patientes etaient classees respectivement PEV3 dans 52,4%, PEV2 dans 28, 6% et PEV1 dans 19%. Huit patientes (38%) etaient metastatiques. Seize (76,2%) femmes avaient une negativite aux recepteurs œstrogenes et progesterones. Le carcinome canalaire infiltrant etait le plus frequent (66,6%). Treize (62%) patientes ont recouru au traitement traditionnel rituel. Une chimiotherapie neoadjuvante et adjuvante etait systematiquement instituee. Dix-huit (85,7%) patientes etaient operables et avaient beneficie d’une mastectomie. Six cas de recidive ont ete notes au cours du suivi. La survie a cinq ans etait de 42, 9%. Conclusion : L’utilisation systematique de la chimiotherapie neoadjuvante et adjuvante a ameliore le pronostic du CSI. Introduction: Inflammatory breast cancer (IBC) is relatively common in young Cameroonian women. This paper aims to present the characteristics of the IBC in the Cameroonian environment. Patients and Methods: The paper uses a descriptive, multicentre cross-sectional study with retrospective collection from 1st of January 2010 to 31st of December 2014. All Cameroonian women affected by an IBC diagnosed and histologically confirmed were included in the study. Results: Twenty-one cases of IBC, which represented 3% of all treated mastopathies, was collected in four Church Hospitals. The mean age of the patients was 37.7 years. Fourteen (66.7%) consulted after an interval more than six months. The location of the tumour was unilateral in all of the cases. Eighteen (85.7%) of the patients had clinically positive lymph node status. The median tumour size was 5cm. The patients were classified into PEV3 52.4%, PEV2 28.6% and PEV1 19%, respectively. Eight patients (38%) were metastatic. Sixteen (76.2%) women had negative oestrogen and progesterone receptors. The most common histologic type was invasive ductal carcinoma with 66.6% of cases. Thirteen (62%) patients used traditional ritual treatment. Neo-adjuvant and adjuvant chemotherapy were systematically instituted. Eighteen (85.7%) patients were operable and had undergone mastectomy. Six (33.3%) cases of recurrence were observed during the follow-up. The 5-years survival was 42.9%. Conclusion: Systematic use of neo-adjuvant and adjuvant chemotherapy improved the prognosis of IBC.

SARS-CoV-2 causes a hypercoagulable state that predisposes patients to thromboembolic events. We report two adolescents with Sickle Cell Disease (SCD) who developed pulmonary embolism (PE) during acute chest syndrome (ACS) episode associated with a possible SARS-CoV-2 infection. Both SCD and SARS-CoV-2 infection predisposes to thromboembolic disease. Thromboprophylaxis with LMWH should be considered in adolescent with ACS, related or not to COVID-19 disease.

Severe acute respiratory syndrome coronavirus 2, the virus responsible of the current COVID-19 pandemic, has limited impact in the pediatric population. Children are often asymptomatic or present mild flu-like symptoms. We report the case of a COVID-19-infected adolescent presenting severe rhabdomyolysis and acute kidney injury without any fever or respiratory symptoms.

Shame and embarrassment related to Parkinson's disease (PD) are rarely addressed in clinical practice nor studied in neuroscience research, partly because no specific tool exists to detect them in PD. Objective:To develop a self-applied assessment tool of shame and embarrassment specifically related to PD or its treatment, to promptly identify the presence and severity of these two emotions in PD. Methods: Identification and selection of relevant items were obtained from the collection of PD patients' opinions during support groups and interviews. Several further items were added following a literature review. Subsequently, a two-phase pilot study was performed for identification of ambiguous items and omissions, and to obtain preliminary data on acceptability, reliability, validity and relevance of the new scale (SPARK). Results: A total of 105 PD patients were enrolled in the study. Embarrassment was reported in 85% of patients, while shame was present in 26%. Fifteen percent of patients did not describe any shame or embarrassment. On average, the intensity of these two emotions was low with a marked floor effect in SPARK items and subscales. However, SPARK total score inter-individual variability was important (range 1-84 out of 99). Acceptability and quality of data were satisfactory with no floor or ceiling effects (2.9% each) or missing data. Internal consistency (Cronbach's alpha) was 0.94 for total score and 0.73-0.87 for subscales. The scale correlated >= 0.60 with instruments measuring related constructs. Content validity was satisfactory. SPARK total score strongly correlated with impaired health-related quality of life (r(S)= 0.81), the propensity to feel embarrassed or ashamed (r(S)= 0.68 and 0.66, respectively), and anxiety (r(S)= 0.72) and depression (r(S)= 0.63) levels. Moderate to high correlations were observed between SPARK total score and apathy (r(S)= 0.46) and a more pronounced personality trait directed toward harm avoidance (r(S)= 0.46). No significant differences in SPARK scores were found by sex, education level, PD duration, Hoehn and Yahr stages or PD phenotype. Conclusion: Preliminary analysis of psychometric properties suggests that SPARK could be an acceptable and reliable instrument for assessing shame and embarrassment in PD. SPARK could help healthcare professionals to identify and characterize PD-induced shame and embarrassment.

SummaryHallucinations in Parkinson’s disease (PD) are one of the most disturbing non-motor symptoms, affect half of the patients, and constitute a major risk factor for adverse clinical outcomes such as psychosis and dementia. Here we report a robotics-based approach, enabling the induction of a specific clinically-relevant hallucination (presence hallucination, PH) under controlled experimental conditions and the characterization of a PD subgroup with enhanced sensorimotor sensitivity for such robot-induced PH. Using MR-compatible robotics in healthy participants and lesion network mapping analysis in neurological non-PD patients, we identify a fronto-temporal network that was associated with PH. This common PH-network was selectively disrupted in a new and independent sample of PD patients and predicted the presence of symptomatic PH. These robotics-neuroimaging findings determine the behavioral and neural mechanisms of PH and reveal pathological cortical sensorimotor processes of PH in PD, identifying a more severe form of PD associated with psychosis and cognitive decline.

Patients with Parkinson's disease (PD) may benefit from deep brain stimulation (DBS) to improve motor and medication-induced symptoms. Yet mixed evidence regarding the outcome of successful DBS on couple satisfaction has been highlighted in the literature. Thirty patients diagnosed with PD were included in a study investigating couple satisfaction (MSS-14), depression (HAD-D) and anxiety (HAD-A) at four measurement times: before DBS and 6, 12, and 18 months post-surgically. Sixteen spouses/partners were included as well. Couple satisfaction from the patient perspective was never associated with depression or anxiety. However, poor marital adjustment (i.e., difference and absolute difference between patients and spouses/partners MSS-14 scores) predicted patients' pre-operative depressive mood. Longitudinal analyses showed that couple satisfaction (n = 9) worsened at 12 months and 18 months compared to pre-DBS scores, F(2.047, 16.378) = 8.723, p = .003, and despite concomitant motor improvement. Growth curve analyses showed that couple satisfaction worsening occurred between 6 and 12 months post-operatively (b = 2.938, p < .001). Thus, couple satisfaction did not increase along with motor improvement and deteriorated after the adjustment period following DBS.

There is a debate on possible alterations of self-identity following deep brain stimulation for neurological disorders including Parkinson&rsquo, s disease. Among the psychological variables likely to undergo changes throughout such a medical procedure, illness representations and coping strategies have not been the target of much research to this day. In order to remedy this, we investigated the dynamics of illness representations and coping strategies in an 18-month longitudinal study involving 45 patients undergoing deep brain stimulation for idiopathic Parkinson&rsquo, s disease. Two research hypotheses were formulated and investigated through repeated measures of ANOVAs and structural equation modelling with full information maximum likelihood and Bayesian estimations. Representations of Parkinson&rsquo, s disease as a cyclical condition and perception of control over the disease diminished after surgery. Use of instrumental coping strategies was not modified after deep brain stimulation. These changes were identified by SEM but not ANOVAs, their magnitude was nevertheless relatively small, implying general stability in representations. These findings suggest that psychological variables do not undergo major changes after deep brain stimulation for Parkinson&rsquo, s disease.

Group A Streptococcus is a pathogen of global importance, but despite the ubiquity of group A Streptococcus infections, the relationship between infection, colonization, and immunity is still not completely understood. The M protein, encoded by the emm gene, is a major virulence factor and vaccine candidate and forms the basis of a number of classification systems. Longitudinal patterns of emm types collected from 457 Fijian schoolchildren over a 10-month period were analyzed. No evidence of tissue tropism was observed, and there was no apparent selective pressure or constraint of emm types. Patterns of emm type acquisition suggest limited, if any, modification of future infection based on infection history. Where impetigo is the dominant mode of transmission, circulating emm types either may not be constrained by ecological niches or population immunity to the M protein, or they may require several infections over a longer period of time to induce such immunity., info:eu-repo/semantics/published

Background and Purpose: Pulmonary function testing is a standard part of care for patients admitted to hospital with a myasthenia gravis exacerbation. It may inform clinicians’ decisions to intubate patients. It is known that pulmonary function declines with age in healthy adults. We studied the effect of age on pulmonary function and serious respiratory events, including intubation, in patients admitted to hospital for a myasthenia gravis exacerbation. Methods: Single center, retrospective cohort of consecutive patients treated for a myasthenia gravis exacerbation. Demographics, pulmonary function tests (PFTs), and respiratory events requiring intubation or emergency respiratory therapy were recorded for each encounter. Relationship of PFTs to age was analyzed using age as a continuous and as a dichotomous (cut-value 70 years) variable. Results: Forty-nine encounters from 39 patients were included. Slow vital capacity (SVC) was negatively correlated with age ( R 0.46, P value .002). Maximum inspiratory pressure (MIP) and SVC were significantly reduced in elderly versus nonelderly patients (MIP-20.0 vs −30.0 cm H2O, P value .004; SVC 16.5 vs 23.4 mL/kg, P value .013). The incidence of respiratory events did not significantly differ between elderly and nonelderly patients (χ2 P value .08). Conclusions: In patients treated for a myasthenia gravis exacerbation, pulmonary function values are significantly reduced in elderly patients compared to nonelderly patients. Despite very low SVC and MIP values most elderly patients do not require intubation however they do require intensive monitoring for serious respiratory complications.

Sustained control of group A Streptococcus (GAS) infections in settings of poverty has proven to be challenging, and an effective vaccine may be the most practical long-term strategy to reduce GAS-related disease burden. Candidate GAS vaccines based on the J8 peptide have demonstrated promising immunogenicity in mice, however, less is known about the role of J8 antibodies in the human immune response to GAS infection. We analysed the stimulation of J8 antibodies in response to infection, and the role of existing J8 antibodies in protection against subsequent infection, using data collected in the Fijian population: (1) cross sectional population serosurvey; (2) paired serum collection for assessment of M-specific and J8 antibody responses; and (3) longitudinal assessment of GAS infection and immunity. Median J8 antibody concentrations peaked in the 5-14 year age group, but there was no sustained increase with age. J8 antibody concentration was neither a significant predictor of time to next infection, nor did it show any relationship to the time since last recorded skin infection. Similarly, J8 antibody fold changes over a defined period were associated neither with the time since last skin infection, nor the number of intervening skin infections. While strong M-specific antibody responses were observed for skin infection, similarly strong J8 antibody responses were not observed. There is no indication that antibodies to the J8 antigen would be useful as either a marker of GAS infection or a measure of population immunity, with J8 antibody responses to infection fleeting, if existent at all.

Background Functional parkinsonism (FP) is considered rare but no studies have looked at its frequency. Case series have described high rates of comorbidity with Parkinson's disease (PD), suggesting a possible association between these conditions. Objectives To study the prevalence, epidemiology and clinical features of FP and its association with PD. Methods We conducted a cross-sectional population-based prevalence study as well as a chart review of cases who received a diagnosis of FP over a 10-year-period in two movement disorder clinics in Switzerland. Epidemiological data regarding FP features were collected. The co-occurrence of PD, psychiatric disorders and other functional disorders were recorded. Clinical differences between FP and FP + PD groups are presented and discussed in light of a literature review. Results The crude prevalence of FP was 0.64 per 100,000 in our population. FP represented 0.24% of patients with parkinsonism. Among 12 FP cases, female gender predominance (87%), mean age of onset of 45.5(± 13.3 Standard deviation SD) years and prolonged diagnostic delay (mean 59 ± 75 SD months) was found. Six patients had an additional diagnosis of PD, 83% of depression and 66% of other functional neurological disorder. In four patients with FP + PD, FP preceded PD by 6 to 56 months. Conclusions These results suggest that FP should be considered in the differential diagnosis of patients presenting with parkinsonism. The high rate of co-occurrence with PD emphasizes the importance of long-term follow up of these patients. The observation that FP often precedes PD should be verified in prospective studies.

Background: Neurolymphomatosis is a process of neoplastic endoneurial invasion, most strongly associated with non-Hodgkin’s lymphoma. It must be distinguished from paraneoplastic, metabolic, nutritional and treatment-related causes of neuropathy that are common in this patient population. Methods: This brief case series illustrates the protean manifestations of neurolymphomatosis of the brachial plexus, ranging from focal distal mononeuropathy to multifocal brachial plexopathy, either as the index manifestation of lymphoma or as a complication of relapsing disease. Results: Prominent asymmetry, pain and nodular involvement on neuroimaging may help distinguish neurolymphomatosis from paraneoplastic immune demyelinating radiculoneuropathy. MR neurography criteria for the diagnosis of neurolymphomatosis include hyperintensity on T2 and STIR sequences, focal and diffuse nerve enlargement with fascicular disorganization and gadolinium enhancement. No specific anatomical distribution within the brachial plexus has, however, been found to be characteristic. Fluorodeoxyglucose-positron emission tomography (FDG-PET) imaging is the imaging modality with the highest sensitivity for detection of nodal or extranodal spread in lymphoma. Conclusions: Brachial plexus neuropathy in neurolymphomatosis is highly protean in its distribution, semiology and relation to lymphoma staging. Dedicated MRI and PET-CT imaging are leading diagnostic modalities.

Diabetic lumbosacral radiculoplexus neuropathy (DLRPN), or diabetic amyotrophy, is an infrequent neurovascular complication of diabetes thought to result from immune-mediated infarction of peripheral nerve branches (1). DLRPN has not previously been reported in association with infarction of the vertebral bone, which itself is a rare occurrence, typically in the setting of aortic surgery and spinal cord infarction (2). We report a case of simultaneous DLRPN and vertebral bony infarction in a patient with type 2 diabetes, highlighting the unifying vascular etiology responsible for both these uncommon pathologies. A 47-year-old man of Nepalese origin presented to hospital with a 2-week history of relatively acute-onset left lumbar pain, numbness and paresthesia in the left obturator and saphenous nerve distributions, and marked proximal left leg weakness. His past health was notable for a 4-year history of type 2 diabetes, well controlled with sitagliptin, canagliflozin, and metformin. On examination, there was Medical Research Council (MRC) grade 2/5 paresis of the left hip flexor and hip adductor muscles, with grade 1/5 power of knee extension. The left patellar reflex was absent. Electrodiagnostic studies showed a reduced left femoral motor potential and denervation at the …

BACKGROUND We investigated the acute effect of short pulse widths on the therapeutic window in subthalamic nucleus deep brain stimulation in Parkinson's disease. METHODS We assessed 10 PD patients with STN-DBS at a 60-µs pulse width. We randomly and double-blindedly applied 10- to 50-µs pulse widths. The principal outcome was the therapeutic window (difference between the amplitude thresholds for visible muscle contraction and for best rigidity control). The secondary outcome was the charge per pulse (which reflects the efficiency of the stimulation) needed to control rigidity. Two-way analysis of variance and pairwise t tests were applied. RESULTS The therapeutic window widened when the pulse width shortened (r = -0.45; P

Staphylococcal and streptococcal toxic shock syndrome (TSS) are associated with significant morbidity and mortality. There has been considerable progress in understanding the pathophysiology and delineating optimal management and treatment. This article reviews the management of TSS, outlining the 'Seven Rs of Managing and Treating TSS': Recognition, Resuscitation, Removal of source of infection, Rational choice of antibiotics, Role of adjunctive treatment (clindamycin and intravenous immunoglobulin), Review of progress and Reduce risk of secondary cases in close contacts.

To investigate the effect of a single intravitreal dexamethasone implant (IVT-DI; Ozurdex; Allergan, Inc.) on visual acuity, macular thickness, and intraocular pressure (IOP) in active noninfectious uveitis.Medical records of patients with noninfectious active uveitis treated by IVT-DIs were retrospectively reviewed. Uveitis etiologies, treatment indications, best corrected visual acuity (BCVA), central retinal thickness measured by ocular coherence tomography, IOP, and systemic, local, and topical treatments were collected. Parameters were analyzed before the injection of the implant, after 1.5 ± 0.8 months and 4.4 ± 0.9 months for the BCVA, after 2 ± 1.3 months and 4.6 ± 1.3 months for the ocular coherence tomography, and after 1.3 ± 0.7 months and 4.4 ± 1 months for the IOP.We included 14 patients (20 eyes, 20 implant injections) with cystoid macular edema (78%), vasculitis (7%), choroiditis (7%), and vasculitis associated with choroiditis (7%). Before the injection, mean visual acuity was 0.4 ± 0.5 logMAR (logarithm of the minimum angle of resolution) that improved to 0.3 ± 0.5 logMAR (P = 0.0002) after 1.5 ± 0.8 months and to 0.3 ± 0.5 logMAR (P = 0.005) after 4.4 ± 0.9 months. A statistically significant decrease of macular thickness was observed both at 2 ± 1.3 months and at 4.6 ± 1.3 months after IVT-DI. Mean IOP was 16 ± 5 mmHg before injections, 18 ± 6 mmHg (P = 0.13) at 1.3 ± 0.7 months, and 15 ± 4 mmHg (P = 0.65) at 4.4 ± 1 months. By Kaplan-Meier analysis, we found that after 3.3 months, 17% of the eyes still present a BCVA amelioration ≥0.3 logMAR.In our patients with active noninfectious uveitis, injection of a first single dexamethasone implant was found to improve visual acuity and decrease macular thickness without significant increase of IOP, although the effect seems limited in time.

Introduction Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs. Methods In this study we describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features of the patient. Results In contrast to most adults, the patient described had a more indolent disease course, reminiscent of a muscular dystrophy. Intravenous immunoglobulin monotherapy resulted in a dramatic clinical response with return to normal strength. Conclusions Systematic consideration of IMNMs and testing for relevant autoantibodies in children with suspected but genetically unconfirmed muscular dystrophy may help improve diagnostic accuracy and allow timely treatment with potentially highly effective immunotherapies. Muscle Nerve 56: 175–179, 2017

At least 15% of the disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in noncoding regions. Whole-transcriptome sequencing is a promising new tool to identify these mutations; however, it will be a challenge to obtain disease-relevant tissue for RNA. Here, we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation (c.458A>G;p.Tyr153Cys). Transcriptome sequencing on patient leukocytes identified a highly significant and atypical ASAH1 isoform not explained by c.458A>G(p C;p.Lys168Asn) and provided a molecular diagnosis of autosomal-recessive spinal muscular atrophy with progressive myoclonic epilepsy. Our findings demonstrate the utility of RNA sequencing from blood to identify splice-impacting disease mutations for nonhematological conditions, providing a diagnosis for these otherwise unsolved patients.

Introduction:Neuropathological data and nuclear medicine imaging show extensive serotonergic impairment in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS). The study aims at performing a case-controlled region-of-interest (ROI)-based analysis of 123I–N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) nortropane (123I-FP-CIT) images to measure extrastriatal regional deficits in PD and APS, and assess their added diagnostic value in discriminating degenerative parkinsonisms from other conditions. Methods: We included 157 patients with early degenerative parkinsonism (mean age 72.6 years, 44% female, mean disease duration at scan 1.6 years), i.e. PD (n = 59), multiple system atrophy parkinsonian variant (MSA-P, n = 17), progressive supranuclear palsy (PSP, n = 28), corticobasal syndrome (CBS, n = 19), dementia with Lewy bodies (DLB, n = 34) as well as 58 similarly-aged control participants. 123I-FP-CIT SPECT images were processed with statistical parametric mapping 12 (SPM12)-based PETPVE12 software and subjected to partial volume effect correction for ROI-based group comparisons. Results: Relative to controls, all forms of degenerative parkinsonism showed decreased 123I-FP-CIT uptake in caudate nucleus, putamen but also pallidum and insula. In addition, a significant uptake reduction was observed in thalamus for MSA-P and PSP, in midbrain for PD and PSP, and in the amygdala for PSP (ANCOVA controlling for age, sex and antidepressant medication, all Bonferroni-corrected p

Monomelic pure motor amyotrophy may seem to be an ominous syndrome as it leads to consideration of motor neuron disease. We present a series of 3 very similar cases where unilateral pure distal lower motor neuron paresis and atrophy was limited to the C8-T1 myotomes, without long-tract signs. Electrodiagnostic studies were in keeping with a restricted anterior horn cell disorder. Neuroimaging showed very focal spinal cord compression at the C6-7 level. Two patients underwent surgical decompression. All 3 patients were improved or stable at follow-up. Distal spondylotic amyotrophy is characterized by equal involvement of thenar and hypothenar muscles, in contrast to amyotrophic lateral sclerosis or Hirayama disease. We discuss the striking 2-level discrepancy between imaging and clinical localization. Proposed explanations are arterial or venous compromise caudal to the site of compression. Anatomical variation such as a prefixed brachial plexus is unlikely. A similar imaging/clinical discrepancy has been documented in Hirayama disease and spondylotic myelopathy.

Background Neurolymphomatosis (NL) is a direct process of invasion of peripheral nerves by lymphoma. It occurs in roughly 5% of patients with lymphoma and represents a particularly difficult diagnostic dilemma when it is the presenting focal manifestation of occult lymphoma. Case presentation We present 3 examples of invasion of the lumbosacral plexus and its branches. These cases demonstrate a protean clinical picture with regards to the time relationship to the clinical course of lymphoma and the neuroanatomical extent of lumbosacral plexus invasion. We demonstrate the complementary role of different imaging modalities. A review of the literature summarizes 23 reports where lumbosacral plexus invasion was the index manifestation, at the time of first diagnosis or recurrence of lymphoma. This series confirms the strong preponderance of B-cell type (92%). There is a marked predilection for involvement of the sciatic nerve (74%), either focally or in a longitudinally extensive fashion, from the ischium to the popliteal fossa. There can also be restricted and discrete involvement of tibial and fibular branches. In recent years, ultrasound and CT have been given a more limited role, as screening tools or as a guide for biopsy. MRI neurography and PET-CT have become leading diagnostic modalities for diagnosis, staging and assessment of treatment response. Conclusion The diagnosis of NL may be challenging, and it was once only reached at autopsy. Improved diagnostic imaging of focal or even asymptomatic disease offers new hope for earlier diagnosis and successful targeted therapy.

Background Disuse atrophy from immobilization is the result of decreased neural activity and muscle unloading. Methods We studied the impact of disuse on hand intrinsic compound muscle action potentials (CMAPs) in a cohort of 39 patients with unilateral 6-week immobilization of the hand in a cast, after distal radius fracture. We excluded patients with nerve injury. We compared side-to-side CMAP characteristics at the time of cast removal and at a subsequent follow-up visit, after a mean interval of 7.8 weeks. Results Statistically significant reductions in CMAP amplitude were noted for the abductor pollicis brevis (29.2%), abductor digiti minimi (19.0%), and first dorsal interosseus (24.9%). There was partial repair of the relative CMAP reduction at the follow-up visit (20.1%, 10.7%, and 8.7%, respectively). There was no significant change in CMAP duration. Conclusions These results provide a framework for quantifying the degree of hand intrinsic CMAP amplitude reduction attributed to disuse.

The discriminative value of CSF total protein (CSF-TP) in subtypes of Guillain–Barre syndrome has not been well documented in North-American patients. We reviewed 173 cases from a single institution, comprising the following clinical categories of neuropathy: 134 Sensorimotor (SM) GBS, 13 Motor (M) GBS, 8 Localized (L) GBS, and 18 Miller Fisher syndrome (MFS). We grouped the electrophysiological interpretation in primarily demyelinating, primarily axonal and normal / equivocal categories. Mean CSF-TP were substantially higher for SM and L-GBS, as well as cases classified as Acute-onset chronic inflammatory demyelinating polyneuropathy. They were lower for M-GBS and L-GBS. The most statistically significant correlation was found for elevated CSF-TP in GBS cases showing an electrophysiologic pattern classified as demyelinating (1.56 g/L) compared with axonal (0.68 g/L) or normal/ equivocal patterns (0.65 g/L). There was a correlation between CSF-TP and time interval between symptom onset and lumbar puncture. There was a weak correlation between CSF-TP and maximal overall-clinical severity grade, which was likely mostly determined by the electorphysiological pattern. Though CSF-TP is a sensitive test for GBS in the second week after onset, it may not be a reliable predictor of clinical severity. There is a robust association of CSF-TP elevation and a demyelinative electrophysiologic pattern and a suggestion that lower mean CSF-TP values can be expected in GBS-spectrum disorders thought to represent nodo-paranodopathies.

KEY POINTS An 84-year-old man presented to the emergency department with a hypertensive emergency. He reported a 1-week history of persistently elevated measurements, taken at home, of systolic blood pressure (between 180 and 210 mm Hg), along with symptoms of headache, photophobia, chest pain and