Guillain‐Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are thought to be autoimmune diseases. There have been many attempts to find a human leukocyte ...antigen (HLA) association with GBS and CIDP with little success. There have been studies of other plausible genes in GBS and CIDP and the role of these genes in GBS and CIDP and the data from these genetic studies is reviewed. Some of the genes that have been studied are immune related and some others have nervous system effects. The studies are limited by small numbers. Some of the genes show association with disease severity rather than disease susceptibility. The need for more detailed molecular studies of the role of HLA molecules and the need for modern genetic approaches to GBS and CIDP are explained.
Abstract We performed a community-based survey of 165 Australian patients with a physician-confirmed diagnosis of myasthenia gravis (MG). MG is an autoimmune disease of the neuromuscular junction ...causing fatiguable muscle weakness. Patients with early onset MG (<40 years of age) were more frequently female (22 males, 60 females) whereas patients with late onset MG (>40 years of age) were more frequently male (50 males, 28 females; p < 0.001). Triggering and exacerbating factors included physical and emotional stress, infections, surgery or trauma, seasonal changes and medications. The co-occurrence of other immune-related diseases was reported by 54% of patients. The median MG quality of life (QOL) score was 92 (range: 24–186). The factor most strongly associated with poor QOL was depression. Only 40.6% of patients were working at the time of the survey and of these, almost half had required sick leave due to MG in the past 12 months. A further 39.4% had stopped work due to MG and 19.4% having to change occupation. Full-time or part-time care was required by 29% of patients and government financial support was received by 52.7%.
Guillain-Barré syndrome (GBS) is considered to have an immune-mediated basis, but the genetic contribution to GBS is unclear. We conducted a GWAS involving 215 GBS patients and 1,105 healthy ...controls. No significant associations of individual SNPs or imputed HLA types were observed. We performed a genome-wide complex trait analysis for evaluation of the heritability of GBS, and found that common SNPs contribute up to 25% of susceptibility to the disease. Genetic risk score analysis showed no evidence of overlap in genetic susceptibility factors of GBS and multiple sclerosis. Given the unexplained heritability of the trait further larger GWAS are indicated.
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•Guillain-Barré syndrome (GBS) is considered to have an autoimmune basis.•A genetic contribution to GBS has been controversial, thus we performed a GWAS.•No single genetic variant (neither tagged nor imputed SNP) was associated with GBS•Common genetic variants contribute up to 25% of susceptibility to GBS.•No overlap in genetic susceptibility factors of GBS and multiple sclerosis.
Kindesvertretung Stefan Blum, Sabine Brunner, Peter Grossniklaus, Christophe A. Herzig, Barbara Jeltsch-Schudel, Susanne Meier
2022
eBook
Gute Kindesvertretung hat zum Ziel, die Partizipation von Kindern, die in ein juristisches Verfahren involviert sind, zu ermöglichen und mitzugestalten. Die Autor*innen des Bandes stellen diesen ...Prozess erstmals transdisziplinär dar - als Synthese juristischer, psychologischer, (behinderten-)pädagogischer und sozialarbeiterischer Theorie und Praxis. Sie zeichnen die Lage der Kindesvertretung in den deutschsprachigen Ländern nach und entwickeln Standards für alle Phasen der Vertretung, konkretisiert anhand von Fallbeispielen aus der Schweiz. Dabei kommen nicht nur Fachpersonen und Entscheidungsträger*innen zu Wort, sondern auch betroffene Kinder und Jugendliche.
The
gene encodes desmin, a key intermediate filament of skeletal, cardiac and smooth muscle. Pathogenic
variants produce a range of skeletal and cardiac muscle disorders collectively known as the ...desminopathies. We report three desminopathy cases which highlight the phenotypic heterogeneity of this disorder and discuss various factors that may contribute to the clinical differences seen between patients with different desmin variants and also between family members with the same variant.
Increasing evidence indicates a role for Epstein-Barr virus (EBV) in the pathogenesis of multiple sclerosis (MS). EBV-infected autoreactive B cells might accumulate in the central nervous system ...because of defective cytotoxic CD8
T cell immunity. We have previously reported results of a phase I clinical trial of autologous EBV-specific T cell therapy in MS 6 months after treatment.
To investigate longer-term outcomes in MS patients who received autologous EBV-specific T cell therapy.
We assessed participants 2 and 3 years after completion of T cell therapy.
We collected data from all 10 treated participants at year 2 and from 9 participants at year 3. No serious treatment-related adverse events were observed. Four participants had at least some sustained clinical improvement at year 2, including reduced fatigue in three participants, and reduced Expanded Disability Status Scale score in two participants. Three participants experienced a sustained improvement in at least some symptoms at year 3. More sustained improvement was associated with higher EBV-specific CD8
T cell reactivity in the administered T cell product.
Autologous EBV-specific T cell therapy is well-tolerated, and some degree of clinical improvement can be sustained for up to 3 years after treatment.
Autoimmune encephalitis is a disorder associated with antibodies directed against central nervous system proteins with variable clinical features. This study aims to add to knowledge of the disease ...by reporting the details of a cohort of patients with autoimmune encephalitis in Queensland, Australia.
We surveyed patients with autoimmune encephalitis diagnosed and managed through public hospitals in Queensland, Australia between 2010 and the end of 2019. Cases were identified via case detection through a centralized diagnostic neuroimmunology laboratory (Division of Immunology, HSQ Pathology Queensland Central Laboratory, Brisbane, Queensland, Australia) and a survey of neurologists. Data including demographic details, clinical presentation, investigation results, treatments including immune therapy and outcomes was collected.
Sixty cases of antibody positive autoimmune encephalitis were identified. Twenty-eight were of anti-NMDA-receptor encephalitis with other cases associated with antibodies against LGi1, Caspr2, glycine receptor, DPPX, GABA
receptor, IgLON5, GFAP, and SOX1. The number of diagnosed cases, especially of anti-NMDA-receptor encephalitis has markedly increased over the period 2017 to 2019. Clinical presentations were marked by heterogeneous symptom complexes and prolonged hospital admissions. Imaging studies were largely normal or non-specific. There was a response to immune therapy and a low mortality rate. Most cases affected by this disorder were left with ongoing symptoms associated with mild disability.
Autoimmune encephalitis in Queensland, Australia is an increasingly common but complex clinical entity marked by heterogeneous presentations, response to immune therapy and outcome results marked by low mortality and incomplete recovery.
Antineuronal antibodies are associated with psychosis, although their clinical significance in first episode of psychosis (FEP) is undetermined.
To examine all patients admitted for treatment of FEP ...for antineuronal antibodies and describe clinical presentations and treatment outcomes in those who were antibody positive.
Individuals admitted for FEP to six mental health units in Queensland, Australia, were prospectively tested for serum antineuronal antibodies. Antibody-positive patients were referred for neurological and immunological assessment and therapy.
Of 113 consenting participants, six had antineuronal antibodies (anti-
-methyl-D-aspartate receptor antibodies
= 4, voltage-gated potassium channel antibodies
= 1 and antibodies against uncharacterised antigen
= 1). Five received immunotherapy, which prompted resolution of psychosis in four.
A small subgroup of patients admitted to hospital with FEP have antineuronal antibodies detectable in serum and are responsive to immunotherapy. Early diagnosis and treatment is critical to optimise recovery.
None.
BackgroundAdherence and persistence are critical to optimising therapeutic benefit from disease-modifying therapies (DMTs) in relapsing-remitting multiple sclerosis (RRMS). This prospective, ...open-label, multicentre, observational study (AubPRO), conducted in 13 hospital-based neurology clinics around Australia, describes treatment satisfaction in patients newly initiated on teriflunomide (Aubagio) and evaluates the use of an electronic patient-reported outcome (PRO) tool.MethodsPatients (≥18 years) newly initiated on teriflunomide (14 mg/day) were followed up at 24 and 48 weeks. Patients completed questionnaires and pill counts electronically using MObile Data in Multiple Sclerosis. The primary endpoint was treatment satisfaction, measured by the Treatment Satisfaction Questionnaire for Medication (TSQM, V.1.4), at week 48. Secondary endpoints included treatment satisfaction at week 24, other PRO scales, clinical outcomes, medication adherence and safety.ResultsPatients (n=103; 54 (52.4%) treatment naive) were mostly female (n=82 (79.6%)), aged 49.5 (11.8) years, with MS duration since symptom onset of 9.1 (11.8) years and a median Expanded Disability Status Scale score of 1.0. Mean treatment satisfaction scores were high (≥60%) across all domains of the TSQM V.1.4 at week 24 and at week 48. Compared with week 24, week 48 treatment satisfaction increased for patients who were treatment naïve and for those previously on another oral or injectable DMT. Over 48 weeks, PROs remained stable across a range of measures including disability, physical health, emotional health and mobility, and there were improvements in work capacity and daily life activity. Adherence was high throughout the study with mean compliance (pill counts) of 93.2%±6.26%, and 98 of 103 (95.1%) patients remained relapse-free.ConclusionThis cohort of Australian patients with RRMS, newly initiated on teriflunomide, and treated in a real-world clinical practice setting, reported high treatment satisfaction and adherence at 24 and 48 weeks. Patient-reported measures of disability remained stably low, work capacity and daily life activity improved, and most patients remained relapse-free.
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