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BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD) are autoantibody-mediated inflammatory diseases of the central nervous system predominantly targeting optic nerves and the spinal cord. Two distinct phenotypes are recognized based on the presence of serum aquaporin-4 (AQP4-IgG) antibodies. However, contrasting clinical course patterns have been identified between AQP4-IgG-positive and AQP4-IgG-negative patients. AIMS: This study aimed to present demographic and clinical characteristics of patients with NMOSD in Slovakia and to evaluate the significance of differences between AQP4-IgG-seropositive and AQP4-IgG-seronegative patients. METHODS: We performed a longitudinal multi-centric retrospective study and analysed the clinical and demographic characteristics of a cohort of 63 Slovak NMOSD patients. RESULTS: Eighty-six percent of patients were women, and ninety-four patients were Caucasian. The median age at diagnosis was 37 years. The most frequent initial manifestations were optic neuritis (47.6% of patients) and transverse myelitis (39.7% of patients). The median EDSS score deteriorated from the initial 3.0 to 4.0 at the last follow-up. Sixty-eight percent of patients were AQP4-IgG positive; 10% of patients were MOG-IgG positive; 27% of patients had no NMOSD-specific antibodies detected. There was a higher prevalence of autoimmune thyroiditis among AQP4-IgG-positive patients (25.6%) compared to AQP4-IgG-negative patients (0%) (p = 0.01). CONCLUSION: This study provides a detailed overview of the clinical and demographic characteristics of NMOSD based on a retrospective analysis of a Slovak cohort of 63 NMOSD patients and extends information provided by similar recently published studies. The most important finding is that there is a high prevalence of autoimmune thyroiditis among AQP4-IgG-negative patients (25%).
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Doença de Hashimoto , Neuromielite Óptica , Humanos , Feminino , Adulto , Masculino , Estudos Retrospectivos , Eslováquia/epidemiologia , Glicoproteína Mielina-Oligodendrócito , Aquaporina 4 , Autoanticorpos , Imunoglobulina G , DemografiaRESUMO
Alzheimer's disease (AD) is an incurable neurodegenerative disease and the most frequently diagnosed type of dementia, characterized by (1) perturbed cerebral perfusion, vasculature, and cortical metabolism; (2) induced proinflammatory processes; and (3) the aggregation of amyloid beta and hyperphosphorylated Tau proteins. Subclinical AD changes are commonly detectable by using radiological and nuclear neuroimaging methods such as magnetic resonance imaging (MRI), computed tomography (CT), positron emission tomography (PET), and single-photon emission computed tomography (SPECT). Furthermore, other valuable modalities exist (in particular, structural volumetric, diffusion, perfusion, functional, and metabolic magnetic resonance methods) that can advance the diagnostic algorithm of AD and our understanding of its pathogenesis. Recently, new insights into AD pathoetiology revealed that deranged insulin homeostasis in the brain may play a role in the onset and progression of the disease. AD-related brain insulin resistance is closely linked to systemic insulin homeostasis disorders caused by pancreas and/or liver dysfunction. Indeed, in recent studies, linkages between the development and onset of AD and the liver and/or pancreas have been established. Aside from standard radiological and nuclear neuroimaging methods and clinically fewer common methods of magnetic resonance, this article also discusses the use of new suggestive non-neuronal imaging modalities to assess AD-associated structural changes in the liver and pancreas. Studying these changes might be of great clinical importance because of their possible involvement in AD pathogenesis during the prodromal phase of the disease.
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Doença de Alzheimer , Resistência à Insulina , Insulinas , Doenças Neurodegenerativas , Humanos , Doença de Alzheimer/metabolismo , Peptídeos beta-Amiloides/metabolismo , Doenças Neurodegenerativas/metabolismo , Tomografia por Emissão de Pósitrons/métodos , Neuroimagem/métodos , Imageamento por Ressonância Magnética/métodos , Encéfalo/metabolismo , Insulinas/metabolismoRESUMO
Background MR spectroscopic imaging (MRSI) allows in vivo assessment of brain metabolism and is of special interest in multiple sclerosis (MS), where morphologic MRI cannot depict major parts of disease activity. Purpose To evaluate the ability of 7.0-T MRSI to depict and visualize pathologic alterations in the normal-appearing white matter (NAWM) and cortical gray matter (CGM) in participants with MS and to investigate their relation to disability. Materials and Methods Free-induction decay MRSI was performed at 7.0 T. Participants with MS and age- and sex-matched healthy controls were recruited prospectively between January 2016 and December 2017. Metabolic ratios were obtained in white matter lesions, NAWM, and CGM regions. Subgroup analysis for MS-related disability based on Expanded Disability Status Scale (EDSS) scores was performed using analysis of covariance. Partial correlations were applied to explore associations between metabolic ratios and disability. Results Sixty-five participants with MS (mean age ± standard deviation, 34 years ± 9; 34 women) and 20 age- and sex-matched healthy controls (mean age, 32 years ± 7; 11 women) were evaluated. Higher signal intensity of myo-inositol (mI) with and without reduced signal intensity of N-acetylaspartate (NAA) was visible on metabolic images in the NAWM of participants with MS. A higher ratio of mI to total creatine (tCr) was observed in the NAWM of the centrum semiovale of all MS subgroups, including participants without disability (marginal mean ± standard error, healthy controls: 0.78 ± 0.04; EDSS 0-1: 0.86 ± 0.03 [P = .02]; EDSS 1.5-3: 0.95 ± 0.04 [P < .001]; EDSS ≥3.5: 0.94 ± 0.04 [P = .001]). A lower ratio of NAA to tCr was found in MS subgroups with disabilities, both in their NAWM (marginal mean ± standard error, healthy controls: 1.46 ± 0.04; EDSS 1.5-3: 1.33 ± 0.03 [P = .03]; EDSS ≥3.5: 1.30 ± 0.04 [P = .01]) and CGM (marginal mean ± standard error, healthy controls: 1.42 ± 0.05; EDSS ≥3.5: 1.23 ± 0.05 [P = .006]). mI/NAA correlated with EDSS (NAWM of centrum semiovale: r = 0.47, P < .001; parietal NAWM: r = 0.43, P = .002; frontal NAWM: r = 0.34, P = .01; frontal CGM: r = 0.37, P = .004). Conclusion MR spectroscopic imaging at 7.0 T allowed in vivo visualization of multiple sclerosis pathologic findings not visible at T1- or T2-weighted MRI. Metabolic abnormalities in the normal-appearing white matter and cortical gray matter were associated with disability. © RSNA, 2022 Online supplemental material is available for this article. See also the editorial by Barker in this issue.
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Pessoas com Deficiência , Esclerose Múltipla , Substância Branca , Adulto , Encéfalo/patologia , Creatina/metabolismo , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Esclerose Múltipla/patologia , Receptores de Antígenos de Linfócitos T/metabolismo , Substância Branca/patologiaRESUMO
INTRODUCTION: Multiple sclerosis (MS) is an inflammatory demyelinating disease leading not only to physical disability but also to cognitive dysfunction. The aim of our study was to test cognitive functions of MS patients with mild relapsing-remitting form and to find out the relationship between cognitive functions and brain volumetry. METHODS: 52 patients (RRMSp) and 23 age-related healthy participants (CON) were enrolled. Mild disability was defined by mean EDSS 2.4 (≤ 4.0), and by median of disease duration 5.2 years. Cognitive status was tested using Single Digit Modality Test (SDMT). Brain volumetry was processed in FreeSurfer 2.0.0. RESULTS: RRMSp patients showed significantly lower SDMT score than CON. SDMT results correlated positively with volume of thalamus, putamen and nc. caudate, and negatively with optic chiasma volume. Compared with CON, RRMSp presented with significantly lower volume in left and right nc. accumbent, cuneus and insular GM, right putamen, total brain cortical grey matter (GM), white matters hypointensities, and 3rd ventricular widths. CONCLUSION: To our best knowledge, this is the first study that presents results showing a correlation of lower SDMT with higher optic chiasma volume, due to its subclinical chronic demyelination. We confirmed that GM atrophy is involved in cognitive functions in MS (Tab. 3, Fig. 2, Ref. 73).
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Cognição , Esclerose Múltipla Recidivante-Remitente , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Substância Cinzenta/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Quiasma ÓpticoRESUMO
BACKGROUND: Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). CASE PRESENTATION: We report a 56-year-old patient with an atypical clinical phenotype of CMT1C, which started as progressive weakness of a single upper limb resembling acquired inflammatory neuropathy. Nerve conduction studies (NCS) and temporarily limited and partial effects of immunotherapy supported the diagnosis of inflammatory neuropathy. Significant progression of polyneuropathy, despite intensive long-lasting immunotherapy, together with repeatedly negative auxiliary investigations (CSF, MRI and antibodies) and genetic testing results finally led to the diagnosis of CMT1C neuropathy. CONCLUSIONS: CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.
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Doença de Charcot-Marie-Tooth/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Condução Nervosa , Exame Neurológico , Linhagem , FenótipoRESUMO
Multiple sclerosis (MS) is an autoimmune disease with expanding axonal and neuronal degeneration in the central nervous system leading to motoric dysfunctions, psychical disability, and cognitive impairment during MS progression. The exact cascade of pathological processes (inflammation, demyelination, excitotoxicity, diffuse neuro-axonal degeneration, oxidative and metabolic stress, etc.) causing MS onset is still not fully understood, although several accompanying biomarkers are particularly suitable for the detection of early subclinical changes. Magnetic resonance (MR) methods are generally considered to be the most sensitive diagnostic tools. Their advantages include their noninvasive nature and their ability to image tissue in vivo. In particular, MR spectroscopy (proton 1H and phosphorus 31P MRS) is a powerful analytical tool for the detection and analysis of biomedically relevant metabolites, amino acids, and bioelements, and thus for providing information about neuro-axonal degradation, demyelination, reactive gliosis, mitochondrial and neurotransmitter failure, cellular energetic and membrane alternation, and the imbalance of magnesium homeostasis in specific tissues. Furthermore, the MR relaxometry-based detection of accumulated biogenic iron in the brain tissue is useful in disease evaluation. The early description and understanding of the developing pathological process might be critical for establishing clinically effective MS-modifying therapies.
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Biomarcadores/metabolismo , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla/diagnóstico por imagem , Progressão da Doença , Diagnóstico Precoce , Metabolismo Energético , Homeostase , Humanos , Magnésio/metabolismo , Esclerose Múltipla/metabolismo , Esclerose Múltipla/patologiaRESUMO
BACKGROUND: Co-occurrence of multiple sclerosis (MS) and glial tumours (GT) is uncommon although occasionally reported in medical literature. Interpreting the overlapping radiologic and clinical characteristics of glial tumours, MS lesions, and progressive multifocal leukoencephalopathy (PML) can be a significant diagnostic challenge. CASE PRESENTATION: We report a case of anaplastic astrocytoma mimicking PML in a 27-year-old patient with a 15-year history of MS. She was treated with interferon, natalizumab and finally fingolimod due to active MS. Follow-up MRI, blood and cerebrospinal fluid examinations, and biopsy were conducted, but only the latter was able to reveal the cause of progressive worsening of patient's disease. CONCLUSIONS: Anaplastic astrocytoma misdiagnosed as PML has not yet been described. We suppose that the astrocytoma could have evolved from a low grade glioma to anaplastic astrocytoma over time, as the tumour developed adjacent to typical MS plaques. The role of the immunomodulatory treatment as well as other immunological factors in the malignant transformation can only be hypothesised. We discuss clinical, laboratory and diagnostic aspects of a malignant GT, MS lesions and PML. The diagnosis of malignant GT must be kept in mind when an atypical lesion develops in a patient with MS.
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Astrocitoma/diagnóstico , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Adulto , Astrocitoma/metabolismo , Biomarcadores , Encéfalo/metabolismo , Encéfalo/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Leucoencefalopatia Multifocal Progressiva/metabolismo , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Tomografia por Emissão de Pósitrons , Avaliação de SintomasRESUMO
BACKGROUND: The role of vaspin in the pathogenesis of stable coronary artery disease (SCAD) have been repeatedly addressed in clinical studies. However, from the point of view of clinical practice, the results of earlier studies are still inconclusive. METHODS: The data of 106 SCAD patients who received coronary angiography and 85 coronary artery disease-free controls were collected and analysed. The patients were divided into subgroups according to their pre-test probability (PTP) and according to the result of coronary angiography. Fasting vaspin concentrations were compared between subgroups of SCAD patients and between target group and controls. The effect of age and smoking on the result of coronary angiography was compared to the effect of vaspin using the binomial regression. RESULTS: We did not find significant difference in vaspin level between target group and controls. Unless the pre-test probability was taken into account, we did not find vaspin difference in the target group, when dividing patients on the basis of presence/absence of significant coronary stenosis. In the subgroup of SCAD patients with PTP between 15% - 65%, those with significant coronary stenoses had higher mean vaspin concentration (0,579 ± 0,898 ng/ml) than patients without significant stenoses. (0,379 ± 0,732 ng/ml) (t = -2595; p = 0,012; d = 0,658; 1-ß = 0,850). Age, smoking status and vaspin significantly contributed to the HSCS prediction in binomial regression model in patients with low PTP (OR: 1.1, 4.9, 8.7, respectively). CONCLUSION: According to our results, vaspin cannot be used as an independent marker for the presence of CAD in general population. However, our results indicate that measuring vaspin in SCAD patients might be clinically useful in patients with PTP below 66%.
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Angiografia Coronária , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/diagnóstico por imagem , Estenose Coronária/sangue , Estenose Coronária/diagnóstico por imagem , Serpinas/sangue , Idoso , Biomarcadores/sangue , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Jejum/sangue , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Índice de Gravidade de DoençaRESUMO
In this study we evaluated clinical feasibility of proton magnetic resonance spectroscopy metabolite mapping (1H MRSI) by using 1.5 Tesla MR-scanner in 10 patients with high-grade glioblastoma. In vivo 1H MRSI performed with a relatively short scan time of 20 minutes enabled to obtain comprehensive information about metabolic changes in glioblastoma and adjacent tissues namely in the peritumoral edema, in the middle and solid part of the tumor, and in the normal-appearing brain tissue. Spectroscopically it was possible to identify initiation of neuronal cell death in the solid tumorous tissue via decreased N-acetyl-aspartate to creatine ratio (↓ tNAA/tCr) and expanding carcinogenesis reflected in elevated choline ratios (↑ tCho/tCr and tCho/tNAA). We showed also the central necrosis of glioblastoma accompanied by the tissue hypoxia, which were apparent as increased lactate and lipids ratios (↑ Lac/tCr and lip/Lac). Metabolic changes were noticeable also in the peritumoral area, showing the glioblastoma infiltration into the surrounding tissues. In intracranial tumors, 1H MRSI performed on 1.5 Tesla field strength was sufficient to provide information about the stage of carcinogenesis, tumor expansion or necrotization and thus it could be considered as a useful diagnostic tool in oncology.
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Biomarcadores Tumorais/análise , Neoplasias Encefálicas/química , Neoplasias Encefálicas/diagnóstico , Glioblastoma/química , Glioblastoma/diagnóstico , Espectroscopia de Prótons por Ressonância Magnética/métodos , Estudos de Viabilidade , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Imagem Molecular/métodos , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Primary diffuse leptomeningeal gliomatosis (PDLG) is a very rare neuro-oncological disease, with only 90 cases of PDLG described in medical literature so far. CASE PRESENTATION: We present a case report of a 56-years-old female patient, who was originally hospitalized due to cervical spine pain lasting several months. Despite complex diagnostics and treatment, the neurological state of the patient progressively deteriorated. Patient died 10 months after the first reported symptom. Postmortem pathological findings resulted in the diagnosis of PDLG. CONCLUSIONS: Affection of the cervical spine in early stages of PDLG is rare and has been described in only six patients so far. PDLG is a fatal neuro-oncological disease and it must be kept in mind in the differential diagnosis of persistent back pain syndromes.
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Vértebras Cervicais , Glioma/diagnóstico , Carcinomatose Meníngea/diagnóstico , Dor/diagnóstico , Dor/etiologia , Biópsia , Tronco Encefálico/patologia , Cerebelo/patologia , Vértebras Cervicais/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Tomografia por Emissão de PósitronsRESUMO
MOTIVATION: The association between weather conditions and stroke incidence has been a subject of interest for several years, yet the findings from various studies remain inconsistent. Additionally, predictive modelling in this context has been infrequent. This study explores the relationship of extremely high ischaemic stroke incidence and meteorological factors within the Slovak population. Furthermore, it aims to construct forecasting models of extremely high number of strokes. METHODS: Over a five-year period, a total of 52,036 cases of ischemic stroke were documented. Days exhibiting a notable surge in ischemic stroke occurrences (surpassing the 90th percentile of historical records) were identified as extreme cases. These cases were then scrutinized alongside daily meteorological parameters spanning from 2015 to 2019. To create forecasts for the occurrence of these extreme cases one day in advance, three distinct methods were employed: Logistic regression, Random Forest for Time Series, and Croston's method. RESULTS: For each of the analyzed stroke centers, the cross-correlations between instances of extremely high stroke numbers and meteorological factors yielded negligible results. Predictive performance achieved by forecasts generated through multivariate logistic regression and Random Forest for time series analysis, which incorporated meteorological data, was on par with that of Croston's method. Notably, Croston's method relies solely on the stroke time series data. All three forecasting methods exhibited limited predictive accuracy. CONCLUSIONS: The task of predicting days characterized by an exceptionally high number of strokes proved to be challenging across all three explored methods. The inclusion of meteorological parameters did not yield substantive improvements in forecasting accuracy.
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Previsões , AVC Isquêmico , Tempo (Meteorologia) , Humanos , Incidência , Previsões/métodos , AVC Isquêmico/epidemiologia , Masculino , Eslováquia/epidemiologia , Feminino , Conceitos Meteorológicos , Modelos Logísticos , IdosoRESUMO
INTRODUCTION: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare inflammatory central nervous system (CNS) disorder, chiefly involving the brainstem, especially the pons. The diagnosis is challenging, requires careful exclusion of alternative diagnoses and a targeted therapeutic approach. CLIPPERS is known to respond well to corticosteroids, but the treatment needs to be long-term and can cause significant side-effects. Moreover, subsequent corticosteroid withdrawal often leads to a relapse. It has been suggested that anti-CD20 molecules could benefit several antibody-mediated CNS inflammatory diseases, including CLIPPERS. CASE REPORT: This paper describes two cases of CLIPPERS. The first demonstrates the benefit of early introduction of corticosteroids with side effects in cases of long-term use. The second demonstrates the efficacy of ocrelizumab (anti-CD20 molecule) in a severe course of CLIPPERS. CONCLUSION: These two cases bring attention to this rare, often misdiagnosed but treatable disease.
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Doenças do Sistema Nervoso Central , Imageamento por Ressonância Magnética , Humanos , Inflamação , Esteroides/uso terapêutico , Corticosteroides/uso terapêutico , Ponte , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/tratamento farmacológico , Progressão da DoençaRESUMO
Vitamin D deficiency is involved in the pathogenesis of multiple sclerosis (MS), a severe autoimmune demyelinating disease of the central nervous system. The gene polymorphism Cdx-2 (rs11568820, G/A) seriously influences the trancriptional activity of the vitamin D receptor (VDR) that binds the vitamin D responsive elements of target genes including HLA-DRB1*15. The aim of the present study in Slovaks was to analyse the association of Cdx-2 variants with the risk of MS and disability progression, and to assess the DRB1*15:01 allele as a possible confounding factor. In total, 493 MS patients and 417 healthy controls were involved in this study. The genotyping of Cdx-2 was performed using restriction analysis; DRB1*15:01 positivity was determined by a high-resolution melting analysis of its surrogate marker rs3135388 (G/A). Our results did not prove any allelic association between Cdx-2 and a risk of MS (minor allele A - 0.181 in patients vs. 0.161 in controls, OR = 1.15, .95 CI = 0.90-1.47, p = 0.289). The logistic regression analysis, adjusted for sex and age, showed no differences in Cdx-2 genotype counts when using an additive, dominant or recessive genetic model (p = 0.351, 0.150, 0.240 respectively). The Cdx-2 variants were also not associated with disease disability progression, evaluated using the Multiple Sclerosis Severity Score. The HLA-DRB1*15:01 allele was found to strongly increase the risk of MS in our study (0.300 in patients vs. 0.101 in controls, OR = 3.83, .95 CI = 2.94-4.99, p = 1.016 × 10-26, dominant genetic model OR = 4.62, .95 CI = 3.40-6.26, p = 9.1 × 10-23). In summary, we found the Cdx-2 as a single genetic marker not to be associated with MS development or progression in Slovaks, independently of HLA-DRB1*15:01 status.
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Predisposição Genética para Doença , Esclerose Múltipla , Humanos , Predisposição Genética para Doença/genética , Cadeias HLA-DRB1/genética , Esclerose Múltipla/genética , Frequência do Gene , Polimorfismo de Nucleotídeo Único/genética , Genótipo , Alelos , Receptores de CalcitriolRESUMO
AIMS: Mild Traumatic Brain Injury (mTBI) is the most common type of craniocerebral injury. Proper management appears to be a key factor in preventing post-concussion syndrome. The aim of this prospective study was to evaluate the effect and safety of selected training protocol in patients after mTBI. METHODS: This was a prospective study that included 25 patients with mTBI and 25 matched healthy controls. Assessments were performed in two sessions and included a post-concussion symptoms questionnaire, battery of neurocognitive tests, and magnetic resonance with tractography. Participants were divided into two groups: a passive subgroup with no specific recommendations and an active subgroup with simple physical and cognitive training. RESULTS: The training program with slightly higher initial physical and cognitive loads was well tolerated and was harmless according to the noninferiority test. The tractography showed overall temporal posttraumatic changes in the brain. The predictive model was able to distinguish between patients and controls in the first (AUC=0.807) and second (AUC=0.652) sessions. In general, tractography had an overall predictive dominance of measures. CONCLUSION: The results from our study objectively point to the safety of our chosen training protocol, simultaneously with the signs of slight benefits in specific cognitive domains. The study also showed the capability of machine learning and predictive models in mTBI patient recognition.
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BACKGROUND: Magnetic resonance spectroscopic imaging (MRSI) of the brain enables in vivo assessment of metabolic alterations in multiple sclerosis (MS). This provides complementary insights into lesion pathology that cannot be obtained via T1- and T2-weighted conventional magnetic resonance imaging (cMRI). PURPOSE: The aims of this study were to assess focal metabolic alterations inside and at the periphery of lesions that are visible or invisible on cMRI, and to correlate their metabolic changes with T1 hypointensity and the distance of lesions to cortical gray matter (GM). METHODS: A 7 T MRSI was performed on 51 patients with relapsing-remitting MS (30 female/21 male; mean age, 35.4 ± 9.9 years). Mean metabolic ratios were calculated for segmented regions of interest (ROIs) of normal-appearing white matter, white matter lesions, and focal regions of increased mIns/tNAA invisible on cMRI. A subgroup analysis was performed after subdividing based on T1 relaxation and distance to cortical GM. Metabolite ratios were correlated with T1 and compared between different layers around cMRI-visible lesions. RESULTS: Focal regions of, on average, 2.8-fold higher mIns/tNAA than surrounding normal-appearing white matter and with an appearance similar to that of MS lesions were found, which were not visible on cMRI (ie, ~4% of metabolic hotspots). T1 relaxation was positively correlated with mIns/tNAA ( P ≤ 0.01), and negatively with tNAA/tCr ( P ≤ 0.01) and tCho/tCr ( P ≤ 0.01). mIns/tCr was increased outside lesions, whereas tNAA/tCr distributions resembled macroscopic tissue damage inside the lesions. mIns/tCr was -21% lower for lesions closer to cortical GM ( P ≤ 0.05). CONCLUSIONS: 7 T MRSI allows in vivo visualization of focal MS pathology not visible on cMRI and the assessment of metabolite levels in the lesion center, in the active lesion periphery and in cortical lesions. This demonstrated the potential of MRSI to image mIns as an early biomarker in lesion development.
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Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/patologia , Esclerose Múltipla/patologia , Imageamento por Ressonância Magnética/métodos , Encéfalo/metabolismo , Espectroscopia de Ressonância Magnética , Receptores de Antígenos de Linfócitos T/metabolismoRESUMO
OBJECTIVES: Multiple sclerosis (MS) is an inflammatory demyelinating disease that may cause physical disabling as well as cognitive dysfunction. The presented study investigated how the neuropsychological status depends on the thalamus and hippocampus's metabolic processes, using γ-aminobutyric acid-edited magnetic resonance spectroscopy (GABA-edited 1H MRS) in patients with early MS, and how the results differ from healthy volunteers. METHODS: We recruited 36 relapsing-remitting (RRMS) MS patients and 22 controls (CON). In addition to common 1H MRS metabolites, such as N-acetyl-aspartate (tNAA), myoinositol (mIns), total choline and creatine (tCr, tCho), we also evaluated GABA and glutamate/glutamine (Glx). Metabolite ratios were correlated with the results of Single-Digit Modality Test (SDMT) and Expanded Disability Status Score (EDSS). RESULTS: In the thalamus, GABA ratios (GABA/tCr, GABA/tNAA) were significantly lower in RRMS patients than in CON. Both tCho- and mIns-ratios correlated with lower scores of SDMT but not with EDSS. Metabolic ratios in the hippocampus did not differ between RRMS and CON and did not correlate with any of performed tests. DISCUSSION: This study is the first to provide GABA-edited 1H MRS evidence for MS-related metabolic changes of the thalamus and hippocampus. The findings underline the importance of evaluating subcortical grey matter in MS patients to improve understanding of the clinical manifestations of MS and as a potential future target for treatment.
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Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Hipocampo/diagnóstico por imagem , Hipocampo/metabolismo , Humanos , Imageamento por Ressonância Magnética , Esclerose Múltipla/complicações , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/metabolismo , Espectroscopia de Prótons por Ressonância Magnética , Tálamo/diagnóstico por imagem , Tálamo/metabolismo , Tálamo/patologia , Ácido gama-Aminobutírico/metabolismoRESUMO
INTRODUCTION: Loss of consciousness (LOC) is used as a diagnostic feature of mild traumatic brain injury (MTBI). However, only 10% of concussions result in LOC. There are only a limited number of in-vivo studies dealing with unconsciousness and structural and functional integrity of the brainstem in patients with MTBI. The aim of our pilot study was to assess the sensitivity of proton magnetic resonance spectroscopy (1H-MRS) to detect metabolic changes in the brainstem in patients after MTBI with unconscioussness. METHODS: Twenty-four patients (12 with LOC, and 12 without LOC) within 3 days of MTBI and 19 healthy controls were examined. All subjects underwent single-voxel 1H-MRS examination of the upper brainstem. Spectra were evaluated using LCModel software. Ratios of total N-acetylaspartate (tNAA), total choline-containing compounds (tCho) and glutamate plus glutamine (Glx) to total creatine (tCre) were used for calculations. RESULTS: We found a significant decrease in tNAA/tCre and tCho/tCre ratios in the patient group with LOC when compared with the control group of healthy volunteers (P=0.002 and P=0.041, respectively), and a significant decrease in the tNAA/tCre ratio in the LOC group when compared with patients without LOC (P=0.04). Other metabolite ratios in the brainstem did not show any significant group differences. CONCLUSION: Our findings indicate that decrease of tNAA/tCre ratio in the upper brainstem using single-voxel 1H-MRS may provide a potential biomarker for MTBI associated with LOC.
Assuntos
Concussão Encefálica , Concussão Encefálica/complicações , Concussão Encefálica/diagnóstico por imagem , Concussão Encefálica/metabolismo , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/metabolismo , Humanos , Projetos Piloto , Espectroscopia de Prótons por Ressonância Magnética , Inconsciência/etiologiaRESUMO
OBJECTIVE: : Neuromyelitis optica spectrum disorders (NMOSDs) are a group of rare, inflammatory, demyelinating diseases that affect the central nervous system. Neither the incidence nor the prevalence of NMOSD has been determined in Slovakia thus far. The aim of this study was to determine both the incidence and the prevalence of NMOSD in Slovakia using the 2015 International Panel of NMOSD diagnosis (IPND) criteria. METHODS: : We performed a population-based study in Slovakia to estimate both the incidence and the prevalence of NMOSD during the period from 1 January 2006 through 31 December 2019. NMOSD cases were reported from multiple sources and the diagnosis was subsequently verified using the IPND criteria by a joint commitee of three neurologists. The prevalence is reported as number of cases per 100,000 inhabitans and the incidence as number of new cases per 1,000,000 person-years. Age-adjusted rates to the WHO standard population 2005-2025 were also calculated. RESULTS: : We identified 63 NMOSD cases. The crude point-prevalence rate was 1.37 (95% CI 1.03-1.71) per 100,000 inhabitants. The crude indidence rate was 0.88 (95% CI 0.65-1.12) per 1,000,000 person-years. The age-adjusted point-prevalence rate was 1.42 (95% CI 1.07-1.84) per 100,000 persons and the age-adjusted incidence rate was 0.96 (95% CI 0.72-1.25) per 1,000,000 person-years. CONCLUSION: : The NMOSD epidemiological situation in Slovakia is comparable to those reported from other Caucasian populations.
Assuntos
Neuromielite Óptica , Aquaporina 4 , Autoanticorpos , Humanos , Incidência , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/epidemiologia , Prevalência , Eslováquia/epidemiologia , População BrancaRESUMO
OBJECTIVES: Fat tissue is an important endocrine organ that produces a number of hormones and cytokines (leptin, adiponectin, resistin, plasminogen activator inhibitor-1, Tumour necrosis factor TNF α) with essential roles in regulation of many physiological functions. METHODS: We targeted implications of adipokines in ischemic stroke patients. Patients with acute stroke were examined (n=145) and the results were compared with the control group (n=68). We have examined potential associations between leptin, adiponectin and ghrelin, and different types of stroke and traditional risk factors. RESULTS: Significantly higher levels of leptin and lower levels of adiponectin and ghrelin were confirmed in the stroke group. The level of leptin in women with stroke was three-times higher than in men, and the leptin levels positively correlated with obesity in both sexes. Ghrelin levels correlated mildly with triglyceride levels, and were dominant in men with cardioembolic stroke. Adiponectin levels were not different between men and women with acute stroke, and correlated with atherothrombotic and lacunar stroke types in men. CONCLUSIONS: Adipokines and ghrelin play an important role in ischemic stroke, but their function in stroke subtypes seems to be different and sex influenced. More research is required to confirm our results.
Assuntos
Isquemia Encefálica/metabolismo , Grelina/sangue , Leptina/sangue , Acidente Vascular Cerebral/metabolismo , Adiponectina/sangue , Idoso , Isquemia Encefálica/epidemiologia , Feminino , Humanos , Arteriosclerose Intracraniana/epidemiologia , Arteriosclerose Intracraniana/metabolismo , Embolia Intracraniana/epidemiologia , Embolia Intracraniana/metabolismo , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Distribuição por Sexo , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral Lacunar/epidemiologia , Acidente Vascular Cerebral Lacunar/metabolismo , Triglicerídeos/sangueRESUMO
BACKGROUND: The latest diagnostic criteria for multiple sclerosis (MS) have revitalized the role of oligoclonal bands synthesis in the cerebrospinal fluid (CSF-OCB). This study identifies predictors of CSF-OCB-positivity among in vivo metabolic markers in the subcortical gray/white matter in MS patients after their first episode (CIS) and in patients with relapsing-remitting course (RRMS). METHODS: The study enrolled 13 CIS and 23 RRMS patients. Metabolism was evaluated using Mescher-Garwood-edited proton-magnetic resonance spectroscopy on a 3T MR scanner. In addition to N-acetyl-aspartate (tNAA), myoinositol (mIns), and choline- and creatine compounds (tCho, tCr) were also evaluated γ-aminobutyric acid (GABA) and glutamate-glutamine (Glx) ratios. RESULTS: CSF-OCB-positivity was found in 76.9% of CIS and 78.2% of RRMS patients. GABA and Glx ratios in putamen and corpus callosum strongly determined CSF-OCB-positive CIS patients. Other essential predictors of CSF-OCB-positive CIS were mIns and Glx ratios in the putamen, and tCho/tNAA in the corpus callosum. In RRMS, GABA ratios in the right thalamus and Glx ratios in the left hippocampus strongly predicted CSF-OCB-positive patients. tCho/tNAA and tNAA/tCr in the left hippocampus were also identified as essential predictors of CSF-OCB-positive RRMS patients. CONCLUSION: This is the first in vivo evidence of GABA-Glx rearrangement in CSF-OCB-positive patients since its early stages of MS.