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Pyomyositis is a pyogenic infection of skeletal striated muscle, usually found in tropical areas, often in immunocompromised patients. We report a new observation of a nontropical Enterobacter pyomyositis occurring in an immunocompetent female in Tunisia. A 53-year-old patient presented with acute fever and intense myalgia in the right thigh. On clinical examination she had an altered general condition, a fever at 40°C and an important swelling of the lateral side of the right thigh. In biology, she had an inflammatory syndrome. Blood culture had identified Enterobacter. Muscle magnetic resonance imaging showed diffuse inflammatory involvement of the vastus lateralis muscle of the right quadriceps associated with edematous infiltration of subcutaneous fatty tissues. Diagnosis of pyomyositis was retained. Antibiotic therapy initially probabilistic and then adapted to the antibiogram was initiated with a favorable outcome. Although rare outside the tropics, the potential severity of pyomyositis encourages its better knowledge.

Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13–30% in Ashkenazi Jewish populations, and 30–40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance. Between 2006 and 2012, we recruited Arab-Berber patients with Parkinson's disease and their family members (aged 18 years or older) at the Mongi Ben Hamida National Institute of Neurology (Tunis, Tunisia). Patients with Parkinson's disease were diagnosed by movement disorder specialists in accordance with the UK Parkinson's Disease Society Brain Bank criteria, without exclusion of familial parkinsonism. LRRK2 carrier status was confirmed by Sanger sequencing or TaqMan SNP assays-on-demand. We did genome-wide linkage analysis using data from multi-incident Arab-Berber families with Parkinson's disease and LRRK2 Gly2019Ser (with both affected and unaffected family members). We assessed Parkinson's disease age of onset both as a categorical variable (dichotomised by median onset) and as a quantitative trait. We used data from another cohort of unrelated Tunisian LRRK2 Gly2019Ser carriers for subsequent locus-specific genotyping and association analyses. Whole-genome sequencing in a subset of 14 unrelated Arab-Berber individuals who were LRRK2 Gly2019Ser carriers (seven with early-onset disease and seven elderly unaffected individuals) subsequently informed imputation and haplotype analyses. We replicated the findings in separate series of LRRK2 Gly2019Ser carriers originating from Algeria, France, Norway, and North America. We also investigated associations between genotype, gene, and protein expression in human striatal tissues and murine LRRK2 Gly2019Ser cortical neurons. Using data from 41 multi-incident Arab-Berber families with Parkinson's disease and LRRK2 Gly2019Ser (150 patients and 103 unaffected family members), we identified significant linkage on chromosome 1q23.3 to 1q24.3 (non-parametric logarithm of odds score 2·9, model-based logarithm of odds score 4·99, θ=0 at D1S2768). In a cohort of unrelated Arab-Berber LRRK2 Gly2019Ser carriers, subsequent association mapping within the linkage region suggested genetic variability within DNM3 as an age-of-onset modifier of disease (n=232; rs2421947; haplotype p=1·07 × 10−7). We found that DNM3 rs2421947 was a haplotype tag for which the median onset of LRRK2 parkinsonism in GG carriers was 12·5 years younger than that of CC carriers (Arab-Berber cohort, hazard ratio [HR] 1·89, 95% CI 1·20–2·98). Replication analyses in separate series from Algeria, France, Norway, and North America (n=263) supported this finding (meta-analysis HR 1·61, 95% CI 1·15–2·27, p=0·02). In human striatum, DNM3 expression varied as a function of rs2421947 genotype, and dynamin-3 localisation was perturbed in murine LRRK2 Gly2019Ser cortical neurons. Genetic variability in DNM3 modifies age of onset for LRRK2 Gly2019Ser parkinsonism and informs disease-relevant translational neuroscience. Our results could be useful in genetic counselling for carriers of this mutation and in clinical trial design. The Canada Excellence Research Chairs (CERC), Leading Edge Endowment Fund (LEEF), Don Rix BC Leadership Chair in Genetic Medicine, National Institute on Aging, National Institute of Neurological Disorders and Stroke, the Michael J Fox Foundation, Mayo Foundation, the Roger de Spoelberch Foundation, and GlaxoSmithKline.

Background Cerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging. Case presentation We report the case of a 30-year-old woman, with a past history of dry eyes and mouth, who presented a severe cerebellar ataxia worsening over 4 years associated with tremor of the limbs and the head. Brain MRI showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, with marked cerebellar atrophy. Complementary investigations confirmed the diagnosis of primary SS (pSS). The patient was treated by methylprednisolone, Cyclophosphamid and Azathioprine. Her clinical and radiological states are stabilized after 2 years of following. Primary cerebellar degeneration is extremely rarely associated with pSS. Few cases of isolated cerebellar ataxia or belonging to a multifocal disease were reported in the literature, most of them characterized by an acute or rapidly progressive onset. Cerebellar atrophy was described in only three patients. There have been few clarifications of the pathogenesis of the neurological manifestations in pSS. Treatment is based on corticosteroids and immunosuppressive agents with no consensus of a specific therapy. Conclusions Cerebellar ataxia due to pSS may exceptionally mimic a degenerative cerebellar ataxia, especially when the onset is progressive, which represents the particularity of our observation. The role of brain MRI and antibodies remains important for the differential diagnosis.

BACKGROUNDCerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging.CASE PRESENTATIONWe report the case of a 30-year-old woman, with a past history of dry eyes and mouth, who presented a severe cerebellar ataxia worsening over 4 years associated with tremor of the limbs and the head. Brain MRI showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, with marked cerebellar atrophy. Complementary investigations confirmed the diagnosis of primary SS (pSS). The patient was treated by methylprednisolone, Cyclophosphamid and Azathioprine. Her clinical and radiological states are stabilized after 2 years of following. Primary cerebellar degeneration is extremely rarely associated with pSS. Few cases of isolated cerebellar ataxia or belonging to a multifocal disease were reported in the literature, most of them characterized by an acute or rapidly progressive onset. Cerebellar atrophy was described in only three patients. There have been few clarifications of the pathogenesis of the neurological manifestations in pSS. Treatment is based on corticosteroids and immunosuppressive agents with no consensus of a specific therapy.CONCLUSIONSCerebellar ataxia due to pSS may exceptionally mimic a degenerative cerebellar ataxia, especially when the onset is progressive, which represents the particularity of our observation. The role of brain MRI and antibodies remains important for the differential diagnosis.

BackgroundSince the SARS-CoV-2 pandemic has started in December 2019, millions of people have been infected all over the world. Vaccination is the most efficient tool to end this pandemic, but vaccine surveillance is necessary to identify side effects. Some studies have shown that neurological complications after COVID-19 vaccination are rare and dominated by demyelinating disease.Case presentationWe present a case of a 67-year-old man who presented 7 days following his first dose of Pfizer-BioNTech COVID-19 vaccine a rapidly progressive ascending muscle weakness. The diagnosis of Guillain-Barré syndrome (GBS) was confirmed according to the clinical features, the albumino-cytological dissociation in the cerebrospinal fluid, and the electroneuromyography findings. The workup for all known infections associated with immune-mediated GBS was negative. The patient received treatment with intravenous immunoglobulin. Neurological examination 1 month after discharge showed full recovery and he regained his baseline functional status.ConclusionsAs far as we know, this is the first reported case in Tunisia. Although extremely rare, neurologists should remain vigilant for acute inflammatory demyelinating polyradiculoneuropathy after COVID-19 vaccination.

COVID-19 vaccination side effects have been increasingly reported, including new-onset autoimmune diseases such as chronic arthritis, thrombocytopenia, Guillain-Barré syndrome (GBS), and more recently chronic inflammatory demyelinating polyneuropathies (CIDP). Molecular mimicry and vaccine adjuvants appear to be important contributors to immune-mediated neuropathies. However, whether the link between the COVID-19 vaccine and these autoimmune disorders is coincidental or causal remains uncertain. We describe the ever-reported case of acute-onset CIDP following the Oxford/AstraZeneca vaccine in Tunisia. The patient is a 41-year-old man who presented with acute, worsening weakness of the four limbs. The symptoms appeared 15 days after his first dose of the AstraZeneca vaccine. The diagnosis of GBS was initially confirmed according to the clinical features, the albumino-cytological dissociation in the cerebrospinal fluid (CSF), and the electroneuromyography (ENMG) findings. Serum workup for all known infections associated with immune-mediated neuropathy was negative. The patient was treated with plasma exchange without initial improvement followed by aggravation of the symptomatology after an interval of four and a half months. Control ENMG showed signs of CIDP meeting the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) criteria of 2021. The patient was treated with maintenance intravenous immunoglobulin and oral corticosteroids. Neurological examination 3 months after discharge showed partial improvement. Worldwide, cases of demyelinating polyneuropathies post-COVID-19 vaccination are increasingly reported. The acute onset of CIDP might lead to a misdiagnosis of GBS. Awareness of this complication and distinction from GBS enables early relay with maintenance treatment to prevent relapses and severe complications. Post-COVID neuropathies are found to be more frequently linked to the AstraZeneca vaccine, however, temporal association does not confirm causal association.

BackgroundOne simple means to measuring capacity1 to undertake Quality Improvement (QI) is straightforward: how many have been trained formally? This represents a process measure. However, demonstrating capability is more challenging (outcome measure). One approach is to survey application of QI Tools and data visualisation on posters. Jay Arthur, Developer of QI Macros, audited posters at a number of Quality Conferences.2 The proportion displaying QI Tools was relatively low. Our study aimed to assess QI capability by analysing usage of QI tools in posters at an International Healthcare Quality Conference.MethodsThe survey assessed all displayed posters for a series of QI Tools and appropriate data visualisation.Results100 posters were assessed (figure 1). 36% of posters were presented run charts, 33% included use of PDSA, 19% used a Fishbone diagram, 14% a Driver Diagram, 13% included Process Maps. Only 7% of posters contained at least one Statistical Process Control (SPC) chart and 5% included a Pareto chart. These findings are consistent with those from other Quality Conferences.ConclusionThis study revealed poor usage of QI tools at poster presentation sessions at an international healthcare quality event, prompting a necessary revision of QI educational approaches within these systems. One approach to measure the impact of QI capability building was to assess the use of QI Tools and appropriate data visualisation in posters or papers. Use of key QI tools, such as process mapping, Driver and Fishbone Diagrams, Pareto and SPC charts should be the next focus of QI capability building. This is ideally performed during a QI project to help embed the knowledge. Additional methods of assessing QI capability should be considered in the evaluation of the impact of QI training. Improvement Advisors and Coaches have a role to play in reinforcing any initial training in QI.Abstract 12 Figure 1Use of quality improvement tools in 100 posters[Figure omitted. See PDF]ReferencesMery G, Dobrow MJ, Baker GR, Im J, Brown A. Evaluating investment in quality improvement capacity building: a systematic review. BMJ Open 2017;7:e012431. Doi: 10.1136/bmjopen-2016-012431Arthur, J. Healthcare data analytics webinar. [Internet] 2023 [updated 2023 Feb 02; cited 2023 Nov 13]; Available from: https://www.qimacros.com/lean-six-sigma-blog/2-14-23-healthcare-data-analytics-webinar/Ethical Approval/IRB StatementThis project is exempt as a Quality Improvement Audit.Disclosures and AcknowledgmentsNo relevant disclosures. We acknowledge Mr Jay Arthur for his personal communication supporting his webinar. We acknowledge the team members who participated in the data collection.

BackgroundHamad Medical Corporation (HMC) has been utilising the Occurrence, Variance, and Accident (OVA) reporting system to monitor, investigate, and improve potential or occurred adverse events. Pre-hospital emergency care is time-critical, and reporting OVAs is essential whilst ensuring ambulance availability for access to effective out-of-hospital care. This project aimed to reduce the average time consumed in incident reporting using the OVA system by HMC Ambulance Service (HMCAS) personnel from six minutes on 13 September 2022 to three minutes on 08 October 2022.MethodsA new incident reporting access icon with items customised to HMCAS operational needs was developed and integrated into the OVA reporting system. A sample of 483 OVAs (168 baselines; 315 following the streamlined process) reported to the HMCAS quality and patient safety department between 13 September and 08 October 2022 was considered. The time elapsed to fill an OVA was recorded. A sample of 22 OVAs before and after the intervention was used to create Shewhart’s t-chart, which assessed the impact of the HMCAS-specified incident reporting icon created in the OVA system on reducing the reporting time. Student t-tests for paired groups and bivariate regression analyses were conducted to evaluate the impact of the ‘Lean’ reporting process.1ResultsThe mean time of reporting an OVA dropped from 328.90 to 145.09 seconds. In table 1, the p-values <0.05 indicate a significant impact of the implemented intervention on the OVA reporting process. The Shewhart’s t-chart visually demonstrated the impact of the ‘Lean’ reporting process with fewer data points (figure 1).ConclusionsImplementing the new icon helped identify the new intervention’s significant impact on reducing time wasted reporting an OVA. This converges with the Lean principle by optimising internal procedures to reduce time wasted during incident reporting. It also helped ensure ambulances’ availability to respond to pre-hospital emergency calls.2Abstract 72 Figure 1Reduction in time spent completing OVA since the introduction of the new HMCASG RL-Datix icon and form[Figure omitted. See PDF]Abstract 72 Table 1Student-t-test for paired groups and bivariate regression analysest-Test: Paired Two Sample for Means Pre-intervention observations samplePost-intervention observations sampleP(T<=t) two-tailObservations 11 11 0.003 Mean 328.909 145.109 Variance 26041.091 16774.651 df 10 Bivariate Regression analysis Coefficients R Square Adjusted R Square p-value Lower 95% Upper 95% Time to complete OVAs 247.597 0.202 0.114 0.007 87.705 407.488 ReferencesDeming WE. Out of the crisis. MIT Press 2018;450.Akmal A, Greatbanks R, Foote J. Lean thinking in healthcare – findings from a systematic literature network and bibliometric analysis. Health Policy [Internet] 2020 Jun 1[Accessed 2023 Jan 8];124(6):615–27. Available from: https://www.sciencedirect.com/science/article/pii/S0168851020300932Ethical Approval/IRB StatementThis project was approved by the Hamad Medical Corporation Ambulance Service, Doha, Qatar, as a Quality Improvement project on 15/03/2022.Disclosures and AcknowledgmentsWe want to thank all of the Hamad Medical Corporation Corporate Quality and Patient Safety Department for their support of this project.

Introduction Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families particularly from the Maghreb, where a founder effect for a highly frequent mutation (named c.338-25_338del26) in the RFXANK gene was reported. Herein, we report the largest single Maghrebian country series of MHC-II deficient patients. Patients and Methods In Tunisia, among 551 PIDs diagnosed from 1993 to 2011, 54 had an MHC-II deficiency. The clinical features and immunological investigations were retrospectively analyzed in 34 children of them belonging to 28 kindred. The genetic study included the c.338-25_338del26 screening by the amplification of the affected region using polymerase chain reaction (PCR) followed by direct sequencing. Results Consanguinity was present in 22 out of 28 families. Mean age at the first infection was 6.1 months. Chronic diarrhea with failure to thrive and pulmonary infections were the most common manifestations occurring in 26 and 28 patients respectively. The most specific laboratory findings were the defect of MHC-II (HLA-DR) expression in all patients. The c.338-25_338del26 mutation was identified in 25 of them. Conclusion In Maghrebian settings, pediatricians should definitely consider this diagnosis in the presence of an early onset of severe and recurrent infections of the respiratory and intestinal tracts, particularly protracted diarrhea with a failure to thrive. The founder effect for the c.338-25_338del26 mutation in the RFXANK gene is also confirmed, facilitating prenatal diagnosis as a preventive approach in the Tunisian affected families with severe forms, particularly in the context of limited access to bone marrow transplantation.

New ?-trifluoromethylenaminones have been prepared in moderate to good yields by regioselective reaction of a variety of primary and secondary amines on the corresponding ?-chlorovinyl-?-trifluoromethylketone.