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Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Enfermedad del Suero , Humanos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/efectos adversos , Factores Inmunológicos/efectos adversos , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológicoRESUMEN
BACKGROUND AND PURPOSE: Aim of this study was to evaluated anxiety, depression, and possible negative implications on work activities during the Sars-CoV-2 pandemic, in a group of Multiple Sclerosis (MS) patients at risk of flu-like syndrome (FLS) compared with FLS- free treatments. METHODS: The present study included patients treated with interferon-ß (IFNß), glatiramer, and natalizumab for at least one year. Collected data included the diagnosis of COVID-19 infection, Beck Depression Inventory-II (BDI-II), Beck Anxiety Inventory (BAI), together with questions about FLS, change in work habits, use of antipyretics, anxiety, and depression. RESULTS: 100 patients were included in the study. Six patients in IFNß and 5 in the natalizumab group had a confirmed COVID-19 infection. 68% in the IFNß patients reported FLS and only one reported an increase in flu-like frequency during the pandemic; 14% reported lower compliance with treatment, and 40% reported uptake of antipyretics several times. Only one IFNß patient reported having lost more working days than the previous year. The average BAI (p = 0.039) was higher in natalizumab group. Correcting these data by age, sex and EDSS to a multivariate analysis we did not find any statistically significant difference in terms of BAI and BDI-II between the three treatment groups. CONCLUSIONS: FLS were not perceived as COVID19-like symptoms but as expected by traditional pharmacological treatments indeed. These data suggest that IFNß can be used safely.
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Antipiréticos , COVID-19 , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/tratamiento farmacológico , Interferón beta/efectos adversos , SARS-CoV-2 , Natalizumab/uso terapéutico , Depresión/epidemiología , Depresión/diagnóstico , Pandemias , Antipiréticos/uso terapéutico , COVID-19/epidemiología , Ansiedad/inducido químicamente , Ansiedad/epidemiología , Ansiedad/diagnósticoRESUMEN
INTRODUCTION: Allgrove syndrome is a genetic disorder characterized by a multisystem involvement manifesting mainly in childhood with esophageal achalasia, adrenal insufficiency, and alacrima. Associated neurological manifestations are frequent in patients with late-onset forms and include peripheral, central, and autonomic dysfunction. The definitive diagnosis remains genetic, but neurological symptoms/signs could be a relevant clue for the diagnosis. DISCUSSION: This syndrome is rare, but it is not impossible for it to occur in adults, so all neurologists must be alert. Moreover, in this regard, neurological symptoms can sometimes be very similar to those of motor neuron disease patients, so that, although rare, Allgrove syndrome may also enter into the differential diagnosis with the bulbar variant of amyotrophic lateral sclerosis. Nevertheless, attention to extra-neurological symptoms must remain high as these play an equally important role in reaching the diagnosis. CASE REPORT: Here we present the case of a patient with some peculiarities that are onset at an advanced age, genetic confirmation of the diagnosis, and prominent neurological involvement, which also opens the differential diagnosis to amyotrophic lateral sclerosis.
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Insuficiencia Suprarrenal , Esclerosis Amiotrófica Lateral , Acalasia del Esófago , Enfermedades del Aparato Lagrimal , Humanos , Adulto , Acalasia del Esófago/diagnóstico , Acalasia del Esófago/genética , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/genética , Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/genética , Enfermedades del Aparato Lagrimal/diagnósticoRESUMEN
BACKGROUND: In the general population, maternal SARS-CoV-2 infection during pregnancy is associated with worse maternal outcomes; however, only one study so far has evaluated COVID-19 clinical outcomes in pregnant and postpartum women with multiple sclerosis, showing no higher risk for poor COVID-19 outcomes in these patients. OBJECTIVE: In this multicenter study, we aimed to evaluate COVID-19 clinical outcomes in pregnant patients with multiple sclerosis. METHODS: We recruited 85 pregnant patients with multiple sclerosis who contracted COVID-19 after conception and were prospectively followed-up in Italian and Turkish Centers, in the period 2020-2022. A control group of 1354 women was extracted from the database of the Multiple Sclerosis and COVID-19 (MuSC-19). Univariate and subsequent logistic regression models were fitted to search for risk factors associated with severe COVID-19 course (at least one outcome among hospitalization, intensive care unit [ICU] admission and death). RESULTS: In the multivariable analysis, independent predictors of severe COVID-19 were age, body mass index ⩾ 30, treatment with anti-CD20 and recent use of methylprednisolone. Vaccination before infection was a protective factor. Vaccination before infection was a protective factor. Pregnancy was not a risk nor a protective factor for severe COVID-19 course. CONCLUSION: Our data show no significant increase of severe COVID-19 outcomes in patients with multiple sclerosis who contracted the infection during pregnancy.
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COVID-19 , Esclerosis Múltiple , Complicaciones Infecciosas del Embarazo , Embarazo , Humanos , Femenino , ARN Viral , Mujeres Embarazadas , SARS-CoV-2 , Esclerosis Múltiple/epidemiología , Complicaciones Infecciosas del Embarazo/epidemiología , Resultado del EmbarazoRESUMEN
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost all type I fibres, few degenerative and necrotic fibres and scattered mononuclear cell infiltrates. Ultrastructural analysis showed a marked disarrangement of sarcomeric structure and large inclusions of thin filaments in some fibres, while immunohistochemistry evidenced alteration in desmin, actin and αB-crystallin protein signals. PCR for CMV detection on muscle sections was negative. Histological, immunological and ultrastructural evaluations were compatible with a necrotic inflammatory myopathy. The correlations between CMV liver infection and the myopathic pattern are discussed. This case underscores the need to consider CMV infection in the differential diagnosis of myopathy with undetermined aetiology, quickly providing directions for a targeted muscle pharmacological intervention.
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Enfermedades Autoinmunes , Infecciones por Citomegalovirus , Enfermedades Musculares , Miositis , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/metabolismo , Femenino , Humanos , Músculo Esquelético/patología , Enfermedades Musculares/metabolismo , Miositis/diagnóstico , Miositis/patologíaRESUMEN
COVID-19 pandemic represented a challenge in the management of treatments for Multiple Sclerosis (MS), such as Natalizumab (NTZ). NTZ interferes with the homing of lymphocytes into the central nervous system, reducing immune surveillance against opportunistic infection. Although NTZ efficacy starts to decline 8 weeks after the last infusion, increasing the risk of disease reactivation, evidence is lacking on the safety of reinfusion during active SARS-CoV-2 infection. We report clinical outcomes of 18 pwMS receiving NTZ retreatment during confirmed SARS-CoV-2 infection. No worsening of infection or recovery delay was observed. Our data supports the safety of NTZ redosing in these circumstances.
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COVID-19 , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Factores Inmunológicos/efectos adversos , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple Recurrente-Remitente/epidemiología , Natalizumab/efectos adversos , Pandemias , SARS-CoV-2RESUMEN
(1) Background: Complement system activation has been proposed as one of the different factors that contribute to Multiple Sclerosis (MS) pathogenesis. In this study, we aimed to describe the potential effects of eculizumab, an anticomplement therapy, on MS disease activity in a cohort of relapsing-remitting (RR) MS patients who discontinued IFN-ß therapy due to IFN-ß-related thrombotic microangiopathy (TMA) onset. (2) Methods: In this retrospective observational multicentric study, we searched for all patients with MS treated by eculizumab with a survey of several nephrological and neurological centers (over 45 centers). (3) Results: Nine patients were included. The mean follow-up time under eculizumab was 3.72 ± 2.58 years. There were no significant differences in disease activity (EDSS, relapses, new T2, and/or Gd-enhancing lesions at MRI) considering the two years before and after eculizumab therapy. No adverse events potentially related to eculizumab therapy were reported during follow-up. (4) Conclusions: In this preliminary study, we described a good safety profile for eculizumab therapy in MS. However, the available data are not sufficient to make firm conclusions about the possible efficacy of eculizumab as a disease-modifying therapy for MS patients.
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INTRODUCTION: Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are distinguished from dystrophic myotonias by the absence of progressive weakness and extramuscular systemic involvement. METHODS: We present an Italian family with 2 subjects carrying a p.Asn1180Ile mutation in SCN4A gene showing a peculiar clinical picture characterized by the association of myopathic features and myotonia. RESULTS: The clinical, electromyographic and histological findings of these patients are reported. The possible pathogenicity of the mutation was tested by three different software, all giving positive results. DISCUSSION: This is the first report of a dominant, heterozygous mutation in SCN4A causing a complex phenotype of non-congenital myopathy and myotonic syndrome. We suggest that, in patients with myotonia and myopathy not related to dystrophic myotonias, the sequence analysis of SCN4A gene should be performed.
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Enfermedades Musculares , Miotonía Congénita , Miotonía , Trastornos Miotónicos , Humanos , Mutación/genética , Miotonía/genética , Miotonía Congénita/genética , Trastornos Miotónicos/genética , Canal de Sodio Activado por Voltaje NAV1.4/genética , LinajeRESUMEN
INTRODUCTION: Nowadays, reports of beriberi are rare in developed countries. Wernicke encephalopathy may be present in about 25% of patients with beriberi. CASE REPORT: We report the case of a woman with history of depression and chronic eating disorder, who complained Wernicke encephalopathy and beriberi. Sural nerve and muscular biopsy were performed, showing severe axonal neuropathy. Thiamine supplementation was started with rapid improvement of the pulmonary and cardiac affections; improvement of peripheral neuropathy was incomplete. CONCLUSIONS: Thiamine deficiency can be misdiagnosed. Beriberi is an important cause of acute flaccid paralysis; hence, clinicians should consider this diagnosis and prompt start thiamine treatment to avoid permanent neurological sequelae.
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Beriberi , Trastornos de Alimentación y de la Ingestión de Alimentos , Deficiencia de Tiamina , Encefalopatía de Wernicke , Beriberi/complicaciones , Beriberi/diagnóstico , Beriberi/tratamiento farmacológico , Femenino , Humanos , Tiamina/uso terapéutico , Deficiencia de Tiamina/complicaciones , Deficiencia de Tiamina/tratamiento farmacológico , Encefalopatía de Wernicke/diagnóstico , Encefalopatía de Wernicke/tratamiento farmacológico , Encefalopatía de Wernicke/etiologíaRESUMEN
INTRODUCTION: Contrast-induced encephalopathy is a rare and usually reversible entity due to the administration of iodinated contrast. Clinical manifestations include cortical blindness, encephalopathy, seizures and focal neurological deficits. METHODS: We report the case of a 56-year-old woman who developed global aphasia and right hemiplegia after a cerebral angiography performed for a subarachnoid haemorrhage. A prompt brain MRI resulted negative, while CT scan revealed left cerebral oedema with the cerebral sulci effacement. Complete recovery was observed in 10 days. DISCUSSION: Diagnosis of contrast-induced encephalopathy requires a temporal correlation between neurological dysfunction and administration of iodinated contrast. Usually, the symptomatology is transient with a full recovery within 48-72 h. The most common symptom is cortical blindness, while other symptoms have been rarely reported. Only 20 cases previously reported global aphasia and/or hemiplegia or mimed anterior circulation strokes. Prompt brain neuroimaging is essential in order to exclude an alternative diagnosis that requires a distinct therapeutic approach.
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Medios de Contraste , Accidente Cerebrovascular , Angiografía Cerebral , Medios de Contraste/efectos adversos , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Accidente Cerebrovascular/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Multifocal motor neuropathy is a purely motor neuropathy with a probably dysimmune pathogenesis, supported by the presence of anti-GM1 IgM antibodies in about half of the cases. Single nerve involvement allows for diagnosis of possible multifocal motor neuropathy. We present the case of a middle age man presenting with progressive weakness and hypotrophy in the left leg and difficulty in walking, in which we have diagnosed a dysimmune mononeuropathy. Treatment with IVIg was performed with substantial improvement. Although only one nerve is involved, early diagnosis of dysimmune mononeuropathy is important to start IVIg treatment that is often decisive.
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INTRODUCTION: Italy has been the first European country severely affected by the COVID-19 pandemic. OBJECTIVE: To analyze the incidence of the clinical presentations suggestive for COVID-19 infection among patients with Multiple Sclerosis in the province of Lecco, in the North Italy, the closest province capital to Bergamo. To describe the association of demographics, clinical characteristics, and use of DMTs categories with the risk of contracting the disease. METHODS: We telephonically interviewed all the 275 MS patients followed in the MS center. The collected data included recent contact with a patient with COVID-19 diagnosis or a subject with respiratory symptoms and the developing of COVID-19 symptoms or a confirmed diagnosis. RESULTS: 15 out of 275 patients reported symptoms suggestive for COVID-19 infection, only one of them with PCR-confirmed diagnosis. No one of them presented severe symptoms or needed hospitalization. Using a multivariable logistic regression model, the only factor associated with being in the COVID-suspect group was the report of a recent contact with a patient with a COVID-19 diagnosis. CONCLUSIONS: The prevalence of COVID-19 within MS patients seems to resemble the prevalence in general population. The lack of associations with other factors assessed, including DMTs, may reflect a lack of statistical power. Larger population studies are needed to explore the correlation between different disease-modifying therapies and COVID-19 course.
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COVID-19/complicaciones , Esclerosis Múltiple/complicaciones , SARS-CoV-2 , Adulto , COVID-19/virología , Estudios de Cohortes , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/epidemiología , Factores de RiesgoAsunto(s)
Anticuerpos Monoclonales Humanizados/farmacología , Infecciones por Coronavirus/tratamiento farmacológico , Factores Inmunológicos/farmacología , Interleucina-6/antagonistas & inhibidores , Neuromielitis Óptica/tratamiento farmacológico , Neumonía Viral/tratamiento farmacológico , Adulto , Anticuerpos Monoclonales Humanizados/administración & dosificación , COVID-19 , Infecciones por Coronavirus/prevención & control , Femenino , Humanos , Factores Inmunológicos/administración & dosificación , Pandemias/prevención & control , Neumonía Viral/prevención & control , Índice de Severidad de la EnfermedadRESUMEN
The sudden worldwide outbreak of Coronavirus Disease 2019 (COVID-19) has certainly provided new challenges in the management of acute ischaemic stroke, and the risk-benefit ratio of intravenous thrombolysis in COVID-19 positive patients is not well known. We describe four COVID-19 patients treated with intravenous thrombolysis for acute ischaemic stroke. Although rt-PA administration is the main therapeutic strategy, our patients experienced unpredictable complications and showed atypical features: the overall mortality was very high. In conclusion, in this article, we provide information about these cases and discuss the possible explanation behind this trend.