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المؤلفون: Virva Hyttinen, Markus T. Sainio, Juho Aaltio, Henna Tyynismaa, Pentti J. Tienari, Emil Ylikallio, Simo Ojanen, Anders Paetau, Mika Kortelainen, Mari Auranen
المساهمون: STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Faculty of Medicine, Veterinary Biosciences, HUSLAB, University of Helsinki, Department of Pathology, Clinicum, Department of Neurosciences, HUS Neurocenter, Department of Medical and Clinical Genetics, Henna Tyynismaa / Principal Investigator
المصدر: Acta Neurologica Scandinavica. 145:63-72
مصطلحات موضوعية: Pediatrics, VARIANTS, 3124 Neurology and psychiatry, Cohort Studies, MYOPATHY, 0302 clinical medicine, ATP-Dependent Proteases, cost analysis, diagnostics, Exome, NAV1.4 Voltage-Gated Sodium Channel, neurological disease, CHANNEL GENE, EPILEPSY, Exome sequencing, 0303 health sciences, Parkinsonism, Nuclear Proteins, clinical exome sequencing, General Medicine, Peptidylprolyl Isomerase, PANELS, 3. Good health, Neurology, Cohort, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Anoctamins, 03 medical and health sciences, Parkinsonian Disorders, medicine, Humans, Myopathy, Retrospective Studies, 030304 developmental biology, SPECTRUM, MUTATIONS, Genetic heterogeneity, business.industry, NEUROPATHY, medicine.disease, MUSCULAR-DYSTROPHY, Peripheral neuropathy, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Nervous System Diseases, Age of onset, Carrier Proteins, business, 030217 neurology & neurosurgery
الوصف: Objectives Clinical diagnostics in adults with hereditary neurological diseases is complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we evaluate the effectiveness of exome sequencing and clinical costs in our difficult-to-diagnose adult patient cohort. Additionally, we expand the phenotypic and genetic spectrum of hereditary neurological disorders in Finland. Methods We performed clinical exome sequencing (CES) to 100 adult patients from Finland with neurological symptoms of suspected genetic cause. The patients were classified as myopathy (n = 57), peripheral neuropathy (n = 16), ataxia (n = 15), spastic paraplegia (n = 4), Parkinsonism (n = 3), and mixed (n = 5). In addition, we gathered the costs of prior diagnostic work-up to retrospectively assess the cost-effectiveness of CES as a first-line diagnostic tool. Results The overall diagnostic yield of CES was 27%. Pathogenic variants were found for 14 patients (in genes ANO5, CHCHD10, CLCN1, DES, DOK7, FKBP14, POLG, PYROXD1, SCN4A, TUBB3, and TTN) and likely pathogenic previously undescribed variants for 13 patients (in genes ABCD1, AFG3L2, ATL1, CACNA1A, COL6A1, DYSF, IRF2BPL, KCNA1, MT-ATP6, SAMD9L, SGCB, and TPM2). Age of onset below 40 years increased the probability of finding a genetic cause. Our cost evaluation of prior diagnostic work-up suggested that early CES would be cost-effective in this patient group, in which diagnostic costs increase linearly with prolonged investigations. Conclusions Based on our results, CES is a cost-effective, powerful first-line diagnostic tool in establishing the molecular diagnosis in adult neurological patients with variable symptoms. Importantly, CES can markedly shorten the diagnostic odysseys of about one third of patients.
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المؤلفون: Ashish Duggal, Anand Krishnan, Ankit Mundra, Debabrata Datta, Vaibhav Deorari, Arun Koul, Debashish Chowdhury, Apoorva Tomar
المصدر: Acta Neurologica Scandinavica
مصطلحات موضوعية: Adult, medicine.medical_specialty, Photophobia, Nausea, Migraine Disorders, India, Logistic regression, lockdown, Young Adult, Quality of life, COVID‐19, Internal medicine, medicine, preventive treatment, Humans, migraine, Pandemics, Internet, business.industry, SARS-CoV-2, COVID-19, General Medicine, Original Articles, Middle Aged, medicine.disease, Phonophobia, Neurology, Migraine, quality of life, Communicable Disease Control, access to health care, Anxiety, Original Article, Neurology (clinical), medicine.symptom, Headaches, business
الوصف: OBJECTIVES: To assess the impact of lockdown during the COVID-19 pandemic on migraine patients in India on disease activity, healthcare accessibility, and quality of life (QoL). MATERIALS & METHODS: This internet-based survey study using a structured questionnaire was conducted from 27th April to 31st July 2020. Previous physician-diagnosed migraine patients or those fulfilling any two of three clinical features (limitation of activities for >1 day, associated nausea or vomiting, and photophobia or phonophobia) were diagnosed as migraine patients. QoL was captured using a Likert scale and determinants of poor QoL were identified by logistic regression. RESULTS: A total of 4078 persons completed the full survey out of which 984 (24.1%) had migraine (mean age 35.3 ±11.2). Compared to pre-lockdown, 51.3% of migraineurs reported worsening of their headaches in terms of increased attack frequency (95.6%), increased headache days (95%), increased attack duration (89.9%) and increased headache severity (88.1%). The worsening was attributed to anxiety due to the pandemic (79.7%), inability or difficulty to access healthcare (48.4%) and migraine medicines (48.9%), and financial worries (60.9%). 26.8% of migraineurs reported poor QoL compared to 7.37% of non-migraineurs [p
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المؤلفون: Michaela Karlstedt, Elisabeth Winnberg, Ulrika Winnberg
المصدر: Acta Neurologica Scandinavica. 144:576-584
مصطلحات موضوعية: Sense of Coherence, Aggression, Loneliness, General Medicine, Disease, Anxiety, medicine.disease, Cross-Sectional Studies, Huntington Disease, Neurology, Huntington's disease, Surveys and Questionnaires, Scale (social sciences), medicine, Humans, Outpatient clinic, Neurology (clinical), medicine.symptom, Psychology, Association (psychology), Clinical psychology, Sense of coherence
الوصف: OBJECTIVES Huntington's disease (HD) is a progressive neuropsychiatric disease characterized by involuntary movements and behavioural symptoms. This study aimed to explore the association between the level of Sense of Coherence (SOC) and health problems, and psychological distress factors in partners to HD affected persons and their need of support. MATERIALS & METHODS A cross-sectional, descriptive, correlational design was used. Data was generated from 94 HD partners from almost all networks, outpatient clinics and nursing homes specialized in HD across Sweden. HD partners filled out questionnaires with scales measuring SOC, health problems, psychological distress factors and the Total Functional Capacity Scale (TFC). Non-parametric analysis was used to analyse group differences. RESULTS Huntington's disease partners with a lower level of SOC experienced more health problems than those with a higher level. Health problems among HD partners were most common among HD affected in TFC stage 3, indicating that the partners need most support during this period. Lower level of SOC was associated with loneliness in the relationship; less possibilities to socialize with friends; worries about the future as well as being subjected to physical aggression. The experience of physical aggression from the HD affected person was common (44.7%) and 28.6% of the partners expressed worries about being subjected to physical aggression. CONCLUSION Our findings suggest that knowledge about the partners' SOC score may be a helpful indicator identifying HD partners who are more vulnerable and need additional help caring for the person with HD and can be a complementary tool in assessment protocols.
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المؤلفون: Dong Zhou, Rong Yang, Jin-Mei Li, Xue-Ping Ma
المصدر: Acta Neurologica Scandinavica. 144:535-545
مصطلحات موضوعية: Male, China, medicine.medical_specialty, Tuberculous meningitis, 03 medical and health sciences, 0302 clinical medicine, Cost of Illness, Humans, Medicine, 030212 general & internal medicine, health care economics and organizations, Retrospective Studies, Coma, business.industry, Drug cost, Significant difference, Inpatient cost, General Medicine, Length of Stay, Direct cost, After discharge, medicine.disease, United States, Neurology, Tuberculosis, Meningeal, Emergency medicine, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: Objective To estimate the direct economic burden of tuberculous meningitis (TBM) in China for the first time. Methods Patients who were first diagnosed with TBM from December 2015 to December 2018 in Western China Hospital were enrolled. We retrospectively collected data on demographic and clinical features, resource utilization, costs, and long-term outcomes. The patients were followed up for 15-53 months. We performed a cost-of-illness study and analyzed the cost contributors with a generalized linear model. Results In total, the cases of 154 TBM patients (95 males, 59 females, aged 14-82 years) were reviewed. The average total direct cost per person was USD (United States dollars) 9,484 (range 1,822-67,285), with a mean direct medical cost of USD 8,901 (range 1,189-67,049). The average inpatient cost and drug cost after discharge were USD 6,837 (range 845-52,921) and USD 1,967 (range 0-60,423), respectively. The mean direct nonmedical cost was USD 583 (range 33-3,817), which accounted for 6.2% of the total direct cost. The average length of stay (LOS) in hospital was 25.0 days (range 6-152). A total of 117 of the patients (76.0%) had good outcomes (mRS = 0-2). There was no significant difference in the costs, LOS, or outcomes between rural and urban patients. Contributors to total direct cost were definite TBM, fever, coma, seizures, multidrug resistance, hydrocephalus, and poor long-term outcome. Conclusions Although the accessibility of medical resources in remote and rural regions has significantly improved in China, the cost of TBM imposes a catastrophic burden on patients.
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المؤلفون: Erika Guastafierro, Matilde Leonardi, Licia Grazzi, Domenico D'Amico, Emanuela Sansone, Alberto Raggi
المصدر: Acta Neurologica Scandinavica
مصطلحات موضوعية: medicine.medical_specialty, Migraine Disorders, Anxiety, Headache Frequency, Logistic regression, 03 medical and health sciences, 0302 clinical medicine, Chronic Migraine, Quality of life, Internal medicine, Headache Disorders, Secondary, Humans, Medicine, In patient, 030212 general & internal medicine, Medical prescription, Medication Overuse Headache, Depression (differential diagnoses), Analgesics, Disability, Depression, business.industry, Headache, Original Articles, General Medicine, Neurology, Withdrawal Treatment, Quality of Life, Original Article, Neurology (clinical), medicine.symptom, business, Medication overuse, 030217 neurology & neurosurgery
الوصف: Objectives The management of chronic migraine (CM) with Medication Overuse Headache (MOH) consists of withdrawal therapy, education on medications’ use and prescription of prophylaxis. Little attention has been given to patients who fail in achieving a successful short‐term outcome after withdrawal: we aim to describe predictors of failure. Methods Patients with CM and MOH were enrolled at the Neurological Institute C. Besta of Milano, and included if they completed the three months follow‐up. Withdrawal failure was defined as the situation in which patients either did not revert from chronic to episodic migraine (EM), were still overusing acute medications, or both did not revert to EM and kept overusing acute medications. Predictors of failure were addressed with a logistic regression, and for all variables, the longitudinal course in the two groups was described. Results In 39, out of 137 patients, withdrawal was unsuccessful: the predictors included day‐hospital‐based withdrawal (OR: 2.37; 95% CI: 1.06–5.29), emergency room (ER) access before withdrawal (OR: 2.81; 95% CI: 1.13–6.94) and baseline headache frequency >69 days/three months (OR: 2.97; 95% CI: 1.32–6.65). Patients who failed withdrawal did not improve on medications intake, use of prophylactic and non‐pharmacological treatments, symptoms of anxiety and depression. Conclusions Patients who were treated in day‐hospital, those who recently attended ER for headache, and those with more than 69 headache/3 months, as well as to those with relevant symptoms of anxiety and depression who did not improve should be closely monitored to reduce likelihood of non‐improvement after structured withdrawal.
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المؤلفون: Vincent Alvarez, Elissavet Eskioglou, Stephan Rüegg, Carolina Iaquaniello, Andrea O. Rossetti, Mauro Oddo, Kaspar Schindler
المصدر: Acta neurologica Scandinavica, vol. 144, no. 3, pp. 296-302
Acta Neurologica Scandinavica
Eskioglou, Elissavet; Iaquaniello, Carolina; Alvarez, Vincent; Rüegg, Stephan; Schindler, Kaspar; Rossetti, Andrea O; Oddo, Mauro (2021). Electroencephalography of mechanically ventilated patients at high risk of delirium. Acta neurologica Scandinavica, 144(3), pp. 296-302. Wiley 10.1111/ane.13447 <http://dx.doi.org/10.1111/ane.13447>مصطلحات موضوعية: 610 Medicine & health, Status epilepticus, Electroencephalography, Non-rapid eye movement sleep, 03 medical and health sciences, delirium, 0302 clinical medicine, Rhythm, medicine, Humans, Ictal, Prospective Studies, EEG, 030212 general & internal medicine, Aged, Altered consciousness, Epilepsy, medicine.diagnostic_test, Cumulative dose, business.industry, Delirium/diagnosis, Delirium/epidemiology, Female, Respiration, Artificial/adverse effects, critical care, Original Articles, General Medicine, Respiration, Artificial, Neurology, Anesthesia, Delirium, Original Article, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: OBJECTIVE Neurophysiological exploration of ICU delirium is limited. Here, we examined EEG characteristics of medical-surgical critically ill patients with new-onset altered consciousness state at high risk for ICU delirium. MATERIALS AND METHODS Pre-planned analysis of non-neurological mechanically ventilated medical-surgical ICU subjects, who underwent a prospective multicenter randomized, controlled EEG study (NCT03129438, April 2017-November 2018). EEG characteristics, according to the 2012 ACNS nomenclature, included background activity, rhythmic periodic patterns/epileptic activity, amplitude, frequency, stimulus-induced discharges, triphasic waves, reactivity, and NREM sleep. We explored EEG findings in delirious versus non-delirious patients, specifically focusing on the presence of burst-suppression and rhythmic periodic patterns (ictal-interictal continuum), and ictal activity. RESULTS We analyzed 91 patients (median age, 66 years) who underwent EEG because of new-onset altered consciousness state at a median 5 days from admission; 42 patients developed delirium (46%). Burst-suppression (10 vs 0%, p = .02), rhythmic/periodic patterns (43% vs 22%, p = .03) and epileptiform activity (7 vs 0%, p = .05) were more frequent in delirious versus non-delirious patients. The presence of at least one of these abnormal EEG findings (32/91 patients; 35%) was associated with a significant increase in the likelihood of delirium (42 vs 15%, p = .006). Cumulative dose of sedatives and analgesics, as well as all other EEG characteristics, did not differ significantly between the two groups. CONCLUSION In mechanically ventilated non-neurological critically ill patients with new-onset alteration of consciousness, EEG showing burst-suppression, rhythmic or periodic patterns, or seizures/status epilepticus indicate an increased risk of ICU delirium.
وصف الملف: application/pdf
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المؤلفون: Yuyao Sun, Goun Je, Kiandokht Keyhanian, Nils Henninger, Shadi Yaghi
المصدر: Acta Neurol Scand
مصطلحات موضوعية: Male, medicine.medical_specialty, Medullary cavity, Infarction, Reticular formation, Article, Sudden cardiac death, Lesion, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, Stroke, Medulla, business.industry, General Medicine, medicine.disease, Long QT Syndrome, Neurology, Reticular connective tissue, cardiovascular system, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: Background Infarction of the medulla has been associated with prolongation of the QTc, severe arrhythmia, and sudden cardiac death, yet the precise anatomical substrate remains uncertain. Aims We sought to determine the possible anatomical structures relating to QTc-prolongation in patients with acute medullary infarction. Methods We included 12 subjects with acute ischemic medullary infarction on brain MRI, who presented within 4.5 h from the last known well time, with a 90-day follow-up. For an unbiased lesion analysis, medullary infarcts were manually outlined on diffusion weighted MRI and co-registered with an anatomical atlas. Results Nine out of 12 had QTc-prolongation. Qualitative and semi-quantitative comparisons were made between infarct location and QTc-prolongation. Among patients with QTc-prolongation, the greatest degree of congruence of the infarct location was over the dorsal vagal nucleus (DVN, 8 out of 9). There was a significant correlation between the number of sections showing infarction of the DVN and presence of QTc-prolongation (r = .582, p = .047). Among patients without QTc-prolongation, the maximum lesion overlap included the medial aspect of the gigantocelluar reticular nucleus of the reticular formation. Conclusion We found that the DVN is a key anatomical substrate related to QTc-prolongation. Further studies with more patients and high-resolution, volumetric MRI are needed to confirm our findings.
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المؤلفون: Elena Fonseca, José Alvarez-Sabín, Juan Luis Restrepo, Sofía Lallana, Manuel Toledo, Manuel Quintana, Laura Abraira, Estevo Santamarina, Iván Seijo-Raposo
المصدر: Acta Neurologica Scandinavica
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, telehealth, Family income, SARS‐CoV‐2, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, COVID‐19, Seizures, Internal medicine, Pandemic, medicine, Insomnia, Humans, 030212 general & internal medicine, Depression (differential diagnoses), Aged, Depression, business.industry, pandemic, COVID-19, Original Articles, General Medicine, Odds ratio, Middle Aged, medicine.disease, Socioeconomic Factors, Neurology, Cohort, Anxiety, Original Article, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصف: Objective To analyze the medium‐term impact of the COVID‐19 pandemic on epilepsy patients, focusing on psychological effects and seizure control. Methods Prospective follow‐up study to evaluate the medium‐term effects of the COVID‐19 pandemic on a cohort of epilepsy patients from a tertiary hospital previously surveyed during the first peak of the pandemic. Between July 1, 2020, and August 30, 2020, the patients answered an online 19‐item questionnaire, HADS, and PSIQ scales. Short‐ and medium‐term effects of the pandemic confinement and the perception of telemedicine were compared. Results 153 patients completed the questionnaire, mean ± SD age, 47.6 ± 19.3 years; 49.7% women. Depression was reported by 43 patients, significantly more prevalent than in the short‐term analysis (29.2% vs. 19.7%; p = .038). Anxiety (38.1% vs. 36.1%; p = 0.749) and insomnia (28.9% vs. 30.9%, p = .761) remained highly prevalent. Seventeen patients reported an increase in seizure frequency (11.1% vs. 9.1%, p = .515). The three factors independently associated with an increase in seizure frequency in the medium term were drug‐resistant epilepsy (odds ratio [OR] = 8.2, 95% CI 2.06–32.52), depression (OR = 6.46, 95% CI 1.80–23.11), and a reduction in income (OR = 5.47, 95% CI 1.51–19.88). A higher proportion of patients found telemedicine unsatisfactory (11.2% vs. 2.4%), and a lower percentage (44.8% vs. 56.8%) found it very satisfactory (p = .005). Conclusions Depression rates increased significantly after the first wave. Depression, drug‐resistant epilepsy, and a reduction in family income were independent risk factors for an increased seizure frequency. Perception of telemedicine worsened, indicating need for re‐adaptation.
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المؤلفون: A. Cassardo, Carmela Ielapi, Simone Troiano, Antonello Grippo, M Ciapetti, C. Cossu, Bahia Hakiki, Giulia Masi, Fabrizio Baldanzi, Cristiana Martinelli, Adriano Peris, Cristina Mei, Francesco Lolli, Manuela Bonizzoli, Andrea Ammannati, Simonetta Gabbanini, Cristina Boccardi, Chiara Lazzeri, Annamaria Bighellini, M. Bastianelli, Giovanni Lanzo, Maenia Scarpino, Riccardo Carrai
المصدر: Acta Neurologica Scandinavica
مصطلحات موضوعية: CIPNM, Adult, Male, medicine.medical_specialty, ARDS, Critical Illness, law.invention, Polyneuropathies, Muscular Diseases, law, COVID‐19, Internal medicine, Electroneuronography, Medicine, Humans, Critical illness polyneuropathy, Myopathy, ENG/EMG, Retrospective Studies, Respiratory Distress Syndrome, business.industry, Electromyography, Incidence (epidemiology), Electrodiagnosis, COVID-19, Retrospective cohort study, General Medicine, Original Articles, Middle Aged, medicine.disease, Intensive care unit, Respiration, Artificial, Intensive Care Units, Neurology, Italy, neurological manifestations, Etiology, Original Article, Female, Neurology (clinical), medicine.symptom, business
الوصف: Background Critical illness polyneuropathy and myopathy (CIPNM) is a frequent neurological manifestation in patients with acute respiratory distress syndrome (ARDS) from coronavirus disease 2019 (COVID‐19) infection. CIPNM diagnosis is usually limited to clinical evaluation. We compared patients with ARDS from COVID‐19 and other aetiologies, in whom a neurophysiological evaluation for the detection of CIPNM was performed. The aim was to determine if there were any differences between these two groups in frequency of CINPM and outcome at discharge from the intensive care unit (ICU). Materials and Methods This was a single‐centre retrospective study performed on mechanically ventilated patients consecutively admitted (January 2016‐June 2020) to the ICU of Careggi Hospital, Florence, Italy, with ARDS of different aetiologies. Neurophysiological evaluation was performed on patients with stable ventilation parameters, but marked widespread hyposthenia (Medical Research Council score
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المؤلفون: Juan Wang, Lanlan Zhang, Chengzhong Wang
المصدر: Acta Neurologica Scandinavica. 144:58-66
مصطلحات موضوعية: Drug Resistant Epilepsy, medicine.medical_specialty, Nausea, Tetrazoles, Subgroup analysis, Cochrane Library, Placebo, Dizziness, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Seizures, law, Internal medicine, medicine, Humans, 030212 general & internal medicine, Adverse effect, Fatigue, Randomized Controlled Trials as Topic, Dose-Response Relationship, Drug, business.industry, General Medicine, Treatment Outcome, Neurology, Meta-analysis, Relative risk, Vertigo, Anticonvulsants, Carbamates, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Chlorophenols
الوصف: OBJECTIVE To investigate the efficacy and safety of adjunctive cenobamate for treatment of uncontrolled focal seizures. METHODS We performed a systematic search of Web of Science, MEDLINE (Ovid and PubMed), Cochrane Library, EMBASE and Google Scholar to identify eligible studies. We included randomized placebo-controlled trials (RCTs) for uncontrolled focal seizures. We calculated the risk ratio (RR) of ≥50%, ≥75% and 100% reduction in seizure frequency from baseline, as well as dropout and serious adverse events related to treatment. Quality of included trials was assessed using the Cochrane Collaboration's tool. RESULTS Two RCTs with a total of 658 patients were included. A significantly larger proportion of patients allocated to cenobamate achieved 50% seizure reduction (RR 2.06, 95% CI 1.70-2.51, p
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