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المصدر: Acta Neurologica Scandinavica. 145:471-478
مصطلحات موضوعية: Cohort Studies, Male, Plasma Exchange, Neurology, Myasthenia Gravis, Humans, Immunoglobulins, Intravenous, Female, Neurology (clinical), General Medicine, Pyridostigmine Bromide
الوصف: Myasthenia gravis (MG) is a rare autoimmune disorder of neuromuscular junction. MG healthcare burden has not been studied in Poland before.Data were drawn from the National Health Fund database; MG patient was defined as a person who received at least once medical service with ICD-10 code MG (G70) and at least two reimbursed prescriptions for pyridostigmine bromide or ambenonium chloride in two consecutive years. We have analyzed treatment: immunosuppression, intravenous immunoglobulins (IVIg), plasma exchange (PE), the number and length of hospitalizations (LOS), intensive care unit (ICU) care, and deaths between 2013 and 2018.In 2018, there were 9012 MG patients (F:M 1.62:1), and 30.6% had early -onset MG (50 years). 66.3% received symptomatic treatment only, 33.7%-glucocorticoids (CS) and/or other immunosuppressants (IS), 64.6%-CS only, 17.5%-azathioprine plus CS, 11%-azathioprine only, 4.6%-CS plus other IS (methotrexate, mycophenolate mofetil, cyclosporine, or tacrolimus), and 2%-other IS only. In 2018, 42.3% of patients were hospitalized at least once (mean 2.05/year), 13.7% due to MG (1.47/year). In 2018, 1.63% patients received PE, 2.33% IVIg. In 2013-2018, 2.7%-3.2% of MG patients required hospitalization in ICU. ICU mean LOS 2013-2018 was 11.5-15.0 days/per patient/year. 2.1% of all MG patients had myasthenic crisis. Mean age at death was 75.7 years for MG and 73.9 for general population (p = .006). All-cause mortality was higher for men (4.1%-5.1%) than for women (2.5%-3.1%), p .01.Our findings confirm significant healthcare burden of MG, comprising a tool to plan resources needed for MG patients.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e932a7bef7df62503f9ddd04cdaf6cdTest
https://doi.org/10.1111/ane.13576Test -
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المؤلفون: Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Marta Lipowska, Anna Łusakowska, Aleksandra Jastrzębska, Anna Potulska-Chromik, Anna Kamińska
المصدر: Acta Neurologica Scandinavica. 140:239-243
مصطلحات موضوعية: Adult, Male, myalgia, medicine.medical_specialty, Adolescent, Compound heterozygosity, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Aged, Aged, 80 and over, Glycogen Storage Disease Type II, business.industry, Muscle weakness, General Medicine, Enzyme replacement therapy, Middle Aged, Dried blood spot, Muscular Dystrophies, Limb-Girdle, Neurology, Child, Preschool, Mutation, Cohort, Female, Dried Blood Spot Testing, Poland, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: OBJECTIVES We aimed to screen for late-onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb-girdle muscle weakness or persistent hyperCKemia. MATERIALS AND METHODS Patients with limb-girdle muscle weakness, persistently elevated CK, rigid spine syndrome, dyspnoea, myalgia or sibling of the patient diagnosed with LOPD were included in the study. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry and followed by genetic testing when required. Study was conducted between June 2014 and May 2017. RESULTS A total of 337 patients aged 32.2 years (range 2-80) were included in the study. Late-onset Pompe disease was diagnosed in 10 patients (3.0% of tested cohort). All were compound heterozygotes with common c.32-13T>G mutation on one allele and missense or frameshift mutation on the other. Two of the mutations (c.1951delG and c.397T>G) were not reported previously. Seven of the patients started enzyme replacement therapy. CONCLUSIONS DBS test is a reliable method for screening for late-onset Pompe disease.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a96c46828960b42652f1ea1167996dTest
https://doi.org/10.1111/ane.13133Test -
3
المؤلفون: Nils Erik Gilhus, Marta Lipowska, Małgorzata Dutkiewicz, Anna Kostera-Pruszczyk, Justyna Kubiszewska, Beata Szyluk, Piotr Szczudlik, Barbara Ryniewicz
المصدر: Acta Neurologica Scandinavica. 130:229-233
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, medicine.medical_treatment, Enzyme-Linked Immunosorbent Assay, Late onset, Autoantigens, Gastroenterology, Young Adult, Internal medicine, Myasthenia Gravis, medicine, Humans, Connectin, Age of Onset, Child, Aged, Autoantibodies, Aged, 80 and over, Autoimmune disease, biology, business.industry, Immunosuppression, Histology, General Medicine, Middle Aged, medicine.disease, Myasthenia gravis, Neurology, Cohort, Immunology, biology.protein, Female, Neurology (clinical), Antibody, business, Biomarkers
الوصف: Objectives Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against neuromuscular junction proteins, 85% of patients have antibodies against acetylcholine receptor (AChR-MG). Antititin antibodies are present in a subset of patients with MG. We aimed to determine the value of antititin antibodies as severity markers and thymoma predictors in early- and late-onset MG. Materials & methods Two-hundred and ninety-five consecutive MG patients (188 F and 107 M) aged 12-89 years (mean 50y) were included. 164 patients had early-onset (EOMG, ≤50 years of age), 131 had late-onset MG (LOMG). Twenty-six patients had thymoma. symptoms, severity graded with MGFA scale, thymus histology, medications, and treatment results were analyzed. Results Antititin antibodies were present in 81 (27%) of all patients: 54% of thymoma MG, 0.6% of non-thymomatous EOMG, and 55% of LOMG, with proportion of titin-positive patients increasing linearly from 40% in the 6th to 88% in the 9th decade of life. Titin-positive patients had more bulbar symptoms (P = 0.003). Severity of MG, need for immunosuppression, myasthenic crisis risk or treatment results were not related to its presence. Antititin antibodies had 56% sensitivity, 99% specificity, 90% positive predictive value (PPV), and 95% negative predictive value (NPV) for thymoma diagnosis in EOMG, and 50% sensitivity, 75% specificity, 71% PPV and 55% NPV in LOMG. Conclusions Antititin antibodies have high PPV and NPV for thymoma in EOMG. In MG without thymoma, antititin antibodies can be considered as markers of LOMG, but not of a severe course in our MG cohort.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8291b6fd292697be4a23196a8fdcf905Test
https://doi.org/10.1111/ane.12271Test -
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المؤلفون: B. Emeryk-Szajewska, A. Karwańska, Katarzyna Rowińska-Marcińska, Anna Kostera-Pruszczyk, Irena Niebroj-Dobosz
المصدر: Acta Neurologica Scandinavica. 106:34-38
مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, business.industry, Glutamate receptor, General Medicine, medicine.disease, Inhibitory postsynaptic potential, Amino acid, Fasciculation, Motor unit, Electrophysiology, Endocrinology, Neurology, chemistry, Internal medicine, Excitatory postsynaptic potential, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.symptom, business, Neuroscience
الوصف: Objectives– Electrophysiological studies of amyotrophic lateral sclerosis (ALS) patients reveal not only lower motor neuron involvement, but also widespread signs of its hyperexcitability. They might be the consequence of changes in the level of amino acids acting as neurotransmitters. Material and methods– Electrophysiological examination of 31 patients with sporadic ALS was performed. A hyperexcitability index (HI) was created to describe the amount of double discharges, fasciculation potentials or `giant' F-waves. Glutamate, aspartate, glycine and GABA concentration in serum and cerebrospinal fluid (CSF) were estimated, using the high performance liquid chromatography technique. Results– The electrophysiological studies revealed marked variability in HI in the patients group. HI did not correlate with duration of the disease and the degree of disability expressed with Norris score, as well as with the level of excitatory or inhibitory amino acids in the body fluids. Conclusion– Hyperexcitability of the motor unit observed in ALS is not directly related to changes in serum and CSF level of amino acids acting as neurotransmitters.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0181a9115e203b1c3f3a7450e5dc19c0Test
https://doi.org/10.1034/j.1600-0404.2002.00149.xTest
