84 research outputs found
The Development of the Dementia Screening Battery-100: Instrument Presentation, Reliability, and Construct Validity
Background/Aim: The screening of dementia in non-Westerners has so far relied on translations and adaptations of reputed instruments. Other efforts focused on developing culturally appropriate tests or tests in touch with new developments in the field. This study presents the rationale behind the construction of a new dementia screening test: the Dementia Screening Battery-100 (DSB-100). Methods: The DSB-100 was administered to 46 demented individuals and 159 healthy matched controls. All demented participants met the DSM-IV criteria for dementia. The healthy controls showed no cognitive impairment and were independent in activities of daily living. The DSB-100 was administered as part of a larger neuropsychological assessment to collect additional indices on the severity of patients' dementia, depression, and frontal dysfunctions. The same information was used for comparisons with DSB-100 scores. Results: Multiple regression analysis suggested that age and education, but not the variable sex, are essential in predicting cognitive performance. Construct validation yielded 4 factors, namely attention-visuospatial factors, memory, language, and executive functions. The results showed that the DSB-100 has a high interrater reliability and an acceptable overall internal homogeneity. Conclusion: These results validate the DSB-100 and suggest its appropriateness for dementia screening in Tunisian elderly and possibly elderly people from other cultures with modifications to some subscales.Scopu
Bipolar Disorder and Multiple Sclerosis: A Case Series
Background. The prevalence of psychiatric disturbance for patients with multiple sclerosis (MS) is higher than that observed in other chronic health conditions. We report three cases of MS and bipolar disorder and we discuss the possible etiological hypothesis and treatment options. Observations. All patients fulfilled the McDonald criteria for MS. Two patients were followed up in psychiatry for manic or depressive symptoms before developing MS. A third patient was diagnosed with MS and developed deferred psychotic symptoms. Some clinical and radiological features are highlighted in our patients: one manic episode induced by high dose corticosteroids and one case of a new orbitofrontal MRI lesion concomitant with the emergence of psychiatric symptoms. All patients needed antipsychotic treatment with almost good tolerance for high dose corticosteroids and interferon beta treatment. Conclusions. MRI lesions suggest the possible implication of local MS-related brain damage in development of pure “psychiatric fits” in MS. Genetic susceptibility is another hypothesis for this association. We have noticed that interferon beta treatments were well tolerated while high dose corticosteroids may induce manic fits
Genetic Analysis of <b><i>TREM2</i></b> Variants in Tunisian Patients with Alzheimer's Disease
International audienc
Aspects electroneuromyographiques des traumatismes du plexus brachial
Introduction: L’électroneuromyogramme (ENMG) garde une place cruciale dans l’exploration du plexus brachial. L’objectif de cette étude était d’étudier les caractéristiques électroneuromyographiques des atteintes plexiques brachiales post-traumatiques et de déterminer les facteurs associés à la topographie et à la sévérité des lésions.
Patients et méthodes: Une étude rétrospective a été réalisée dans le service de Neurologie du CHU RAZI incluant les patients adressés à l’unité d’électroneurophysiologie pour une atteinte traumatique du plexus brachial durant la période allant de janvier 2003 à juin 2018. Les données démographiques, cliniques et les résultats de l’ENMG ont été recueillis et analysés. La sévérité de la lésion a été évaluée selon la version modifiée de l’échelle de Dumitru et Wilbourn.
Résultats: Nous avons colligé 36 plexopathies brachiales post traumatiques chez 35 patients (H/F = 30/5, âge moyen = 39,3 ans). L’ENMG a été réalisé 3 semaines après le traumatisme chez 91,3% des patients. Il a montré une conduction nerveuse altérée (97,2 %), un tracé neurogène (91,7 %) et des signes de dénervation (55,6 %). Le niveau lésionnel concernait les troncs primaires (66,7 %) et les troncs secondaires (33,3 %). Il était sans lien significatif avec la cause (p>0,05). La lésion était sévère (61,1 %), modérée (36,1 %) et légère (2,8 %) sans association significative ni avec la cause ni avec le site lésionnel (p>0,05).
Conclusion: Notre étude a permis d’appuyer le rôle de l’ENMG dans l’étude de la plexopathie brachiale post traumatique. Elle a démontré que la topographie et la sévérité des lésions étaient indépendantes des étiologies du traumatisme.
English title: Electroneuromyogram findings of traumatic brachial plexus injuries
Background: Electroneuromyogram (ENMG) plays a crucial role in the exploration of the brachial plexus. The purpose of this study was to investigate the electroneuromyographic characteristics of posttraumatic plexus brachial damage and to determine the factors associated with the topography and severity of the lesions.
Patients and methods: A retrospective study was carried out in the Neurology Department of the RAZI University Hospital including patients referred to the electroneurophysiology unit for traumatic brachial plexus damage during the period from January 2003 to June 2018. Demographic, clinical and ENMG’s data results were collected and analyzed. The severity of the lesion was evaluated according to the modified version of the Dumitru and Wilbourn scale.
Results: We collected 36 post-traumatic brachial plexopathies in 35 patients (M / F = 30/5, mean age = 39.3 years). ENMG was performed 3 weeks after trauma in 91.3% of patients. He showed impaired nerve conduction (97.2%), a neurogenic trace (91.7%) and signs of denervation (55.6%). The lesion level concerned the primary trunks (66.7%) and the secondary trunks (33.3%). It was not significantly related to the cause (p> 0.05). The lesion was severe (61.1%), moderate (36.1%) and mild (2.8%) with no significant association with either the cause or the site of injury (p> 0.05).
Conclusion: Our study supported the role of ENMG in the study of post-traumatic brachial plexopathy. It demonstrated that the topography and the severity of the lesions were independent of the etiologies of the trauma.
 
Reducing the risk of cognitive decline and dementia: WHO recommendations
With population ageing worldwide, dementia poses one of the greatest global challenges for health and social care in the 21st century. In 2019, around 55 million people were affected by dementia, with the majority living in low- and middle-income countries. Dementia leads to increased costs for governments, communities, families and individuals. Dementia is overwhelming for the family and caregivers of the person with dementia, who are the cornerstone of care and support systems throughout the world. To assist countries in addressing the global burden of dementia, the World Health Organisation (WHO) developed the Global Action Plan on the Public Health Response to Dementia 2017–2025. It proposes actions to be taken by governments, civil society, and other global and regional partners across seven action areas, one of which is dementia risk reduction. This paper is based on WHO Guidelines on risk reduction of cognitive decline and dementia and presents recommendations on evidence-based, multisectoral interventions for reducing dementia risks, considerations for their implementation and policy actions. These global evidence-informed recommendations were developed by WHO, following a rigorous guideline development methodology and involved a panel of academicians and clinicians with multidisciplinary expertise and representing geographical diversity. The recommendations are considered under three broad headings: lifestyle and behaviour interventions, interventions for physical health conditions and specific interventions. By supporting health and social care professionals, particularly by improving their capacity to provide gender and culturally appropriate interventions to the general population, the risk of developing dementia can be potentially reduced, or its progression delayed
The risk of infections for multiple sclerosis and neuromyelitis optica spectrum disorder disease-modifying treatments: Eighth European Committee for Treatment and Research in Multiple Sclerosis Focused Workshop Review. April 2021
Over the recent years, the treatment of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) has evolved very rapidly and a large number of disease-modifying treatments (DMTs) are now available. However, most DMTs are associated with adverse events, the most frequent of which being infections. Consideration of all DMT-associated risks facilitates development of risk mitigation strategies. An international focused workshop with expert-led discussions was sponsored by the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) and was held in April 2021 to review our current knowledge about the risk of infections associated with the use of DMTs for people with MS and NMOSD and corresponding risk mitigation strategies. The workshop addressed DMT-associated infections in specific populations, such as children and pregnant women with MS, or people with MS who have other comorbidities or live in regions with an exceptionally high infection burden. Finally, we reviewed the topic of DMT-associated infectious risks in the context of the current SARS-CoV-2 pandemic. Herein, we summarize available evidence and identify gaps in knowledge which justify further research
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.</p
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance
INTRODUCTION
Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic.
RATIONALE
We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs).
RESULTS
Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants.
CONCLUSION
Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century
Advocacy for patients with headache disorders
Primary headache disorders are worldwide highly prevalent and burdensome and should be therefore considered as a global public health priority. However, too many patients with primary headache disorders still do not receive satisfying care. The most likely identified reasons for such a scenario - lack of public awareness, stigma, lack of trained professionals with inadequate healthcare systems and policies - are remediable. Despite the progresses that were made in headache advocacy, these efforts have not yielded substantial improvements in research funding or access to specialty care and even standards of care. The situation is more complex in Low and Middle Income Countries (LMICs) where headache advocacy is urgently needed given the magnitude of the difficulties that patients with primary headache disorders face in accessing care. The growing emergence of coordinated, collaborative, patient-centered advocacy efforts with improved patient-clinician partnership is an opportunity to enhance progress in advocacy for a satisfying life and optimal and equitable care for people with primary headache disorders. LMICs can benefit greatly from coordinating these efforts on a global scale. The recent organization of a training program on headache diagnosis and management for healthcare professionals in Africa is a concrete example
Bipolar Disorder and Multiple Sclerosis: A Case Series
Background. The prevalence of psychiatric disturbance for patients with multiple sclerosis (MS) is higher than that observed in other chronic health conditions. We report three cases of MS and bipolar disorder and we discuss the possible etiological hypothesis and treatment options. Observations. All patients fulfilled the McDonald criteria for MS. Two patients were followed up in psychiatry for manic or depressive symptoms before developing MS. A third patient was diagnosed with MS and developed deferred psychotic symptoms. Some clinical and radiological features are highlighted in our patients: one manic episode induced by high dose corticosteroids and one case of a new orbitofrontal MRI lesion concomitant with the emergence of psychiatric symptoms. All patients needed antipsychotic treatment with almost good tolerance for high dose corticosteroids and interferon beta treatment. Conclusions. MRI lesions suggest the possible implication of local MS-related brain damage in development of pure “psychiatric fits” in MS. Genetic susceptibility is another hypothesis for this association. We have noticed that interferon beta treatments were well tolerated while high dose corticosteroids may induce manic fits
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