RESUMEN
OBJECTIVE: To evaluate the frequency and severity of various clinical symptoms of Parkinson's disease (PD) depending on the BDNF rs6265 polymorphism. MATERIAL AND METHODS: The study included 533 patients with PD. The stage of PD was assessed using the Hoehn and Yahr scale (1967), motor symptoms were evaluated with MDS-UPDRS. Assessment of non-motor symptoms (NMS) in PD was conducted using the Beck Depression Inventory II (BDI-II); the Hospital Anxiety and Depression Scale (HADS); the Apathy Scale; the Montreal Cognitive Assessment (MoCA test); the Questionnaire for Impulsive-Compulsive Disorders in PD -Rating Scale (QUIP-RS). Genotyping of the BDNF variant (rs6265) was performed using real-time PCR with TaqMan probes. RESULTS: Most PD patients have a combination of NMS increasing as the disease progresses and is determined by molecular-genetic individual characteristics. There are significant differences in the severity of motor symptoms and NMS: individuals with the AA genotype showed significantly pronounced motor symptoms (p<0.0001); emotional-affective symptoms (p<0.0001); cognitive and impulsive behavioral disorders (p<0.0001). CONCLUSION: The rs6265 BDNF allele A is associated with a wide range of NMS, increasing the risk of their development in patients with PD, thus playing the important role in the etiopathogenesis of this pathology.
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Factor Neurotrófico Derivado del Encéfalo , Enfermedad de Parkinson , Polimorfismo de Nucleótido Simple , Humanos , Factor Neurotrófico Derivado del Encéfalo/genética , Enfermedad de Parkinson/genética , Femenino , Masculino , Persona de Mediana Edad , Anciano , Genotipo , Índice de Severidad de la Enfermedad , Depresión/genéticaRESUMEN
Adherence to therapy largely determines the success of treatment interventions: low levels of adherence are associated with reduced treatment effectiveness. For many chronic diseases, the level of adherence to treatment is about 50% or less, which confirms the relevance of this topic and requires its research. The high costs of treatment, the need for long-term continuous use of drugs and the special socio-economic significance of a disease such as multiple sclerosis (MS) determine the importance of maintaining a high level of adherence to its treatment. An analysis of literature data on the concept of treatment adherence, methods of its definition and influencing factors was carried out, the values of the level of adherence in the treatment of MS, as well as measures to maintain it during the COVID-19 pandemic were considered. Increasing awareness of healthcare professionals about the problem of treatment adherence and ways to improve it helps to improve the efficiency of managing patients with MS. The paper considers the primary stage of the strategy to improve treatment adherence among patients with MS, namely the formation of expanded knowledge of the problem by specialists of a multidisciplinary team involved in the diagnosis and treatment of patients with MS.
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COVID-19 , Cumplimiento de la Medicación , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/tratamiento farmacológico , COVID-19/epidemiología , SARS-CoV-2RESUMEN
Primary central nervous system lymphoma (PCNSL) is a rare neoplasm that can affect the brain, eyes, and, rarely, the spinal cord. Clinical presentation and MRI findings can mimic a variety of diseases, including high-grade gliomas, infectious and granulomatous diseases, and demyelinating diseases. We describe three cases where the diagnosis of PCNSL was difficult due to an ambiguous clinical, radiological and laboratory results. The role of stereotactic biopsy remains leading in differential diagnosis; however, the invasiveness and frequent limitations of this method determine the search for additional biological markers of the disease. New evidence suggests a potential role for cerebrospinal fluid (CSF) cytokine profiles and proteomic analysis in differential diagnosis, disease progression, and treatment response.
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Neoplasias del Sistema Nervioso Central , Enfermedades Desmielinizantes , Humanos , Biopsia , Neoplasias del Sistema Nervioso Central/diagnóstico , Neoplasias del Sistema Nervioso Central/líquido cefalorraquídeo , Neoplasias del Sistema Nervioso Central/diagnóstico por imagen , Enfermedades Desmielinizantes/diagnóstico , Enfermedades Desmielinizantes/líquido cefalorraquídeo , Diagnóstico Diferencial , Linfoma/diagnóstico , Imagen por Resonancia MagnéticaRESUMEN
Investigation of multiple sclerosis (MS) pathogenesis requires sophisticated analytical tools of precision medicine, such as omics research, which include genomics, microbiomics and metabolomics (proteomics, lipidomics and glycomics). Such sensitive methods are based on careful preanalytical work with biomaterials to maintain quality and obtain objective results. Implementation of biobanking as a universal method for working with biomaterials will help to standardize the stages of research, compare different scientific team's results. Collaboration of MS researchers with large biobanks can also help to conduct multicenter and long-term prospective studies, to include a wide number of patients. In this article, we analyze the experience of biobanking practice technologies in studies of MS patients and share the experience of partnership between the Center for MS of the Tomsk Region and the Bank of Biological Material of the Siberian State Medical University.
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Bancos de Muestras Biológicas , Esclerosis Múltiple , Medicina de Precisión , Humanos , Ensayos Clínicos como Asunto , Metabolómica , Esclerosis Múltiple/patología , Medicina de Precisión/métodos , SiberiaRESUMEN
OBJECTIVE: To evaluate the efficacy and safety of the anti-CD20 monoclonal antibody divozilimab (DIV) used as an intravenous infusion at a dose of 500 mg every 24 weeks during 100 weeks for the treatment of patients with multiple sclerosis (MS), including relapsing-remitting multiple sclerosis (RRMS) and secondary progressive MS (SPMS) with relapses. MATERIAL AND METHODS: The multicenter, randomized, double-blind and double-masked phase III clinical trial (CT) BCD-132-4/MIRANTIBUS (NCT05385744) included 338 adult patients with MS distributed in a 1:1 ratio into two groups: DIV 500 mg and teriflunomide (TRF) 14 mg. After screening, subjects were included in the main CT period, which consisted of two cycles of therapy over 48 weeks, then entered an additional period from weeks 49 to 100, which included three cycles of therapy. The efficacy was assessed based on the results of brain MRI and registration of data on relapses. RESULTS: 308 subjects completed 5 therapy cycles according to the study protocol. An analysis of the effectiveness of DIV therapy over 2 years showed a persistent suppression of MRI and clinical activity of the disease in comparison with TRF, which was confirmed by all the studied MRI indicators (including CUA; total number of gadolinium-enhancing (GdE) lesions on T1-weighted scans ; number of new or enlarged lesions on T2-weighted scans; lesions volume change on T2-weighted scans; change in the volume of hypointense lesions on T1-weighted scans). The use of DIV was associated with a statistically significant decrease in ARR compared to TRF (p=0.0001). The ARR in the DIV group was 0.057, in the TRF group - 0.164 with 95% confidential interval for the frequency ratio [0.202; 0.593]. The incidence of GdE lesions on T1-weighted scans in the DIV group was significantly lower than in the TRF group. The average number of such lesions was 0.0±0.08 and 1.0±4.46 in the DIV and TRF groups, respectively (p<0.0001). Progression of EDSS was detected in 18 (10.7%) and 36 (21.3%) patients in the DIV and TRF groups, respectively (p=0.0075). The proportion of patients with relapses was 11.2% (n=19) in the DIV group and 23.1% (n=39) in the TRF group (p=0.0039). In the subpopulation of patients with SPMS, no cases of increase in EDSS were detected, and not a single case of exacerbation was recorded over 2 years of using DIV. Also, DIV has shown a favorable safety profile. Among the adverse reactions (AR), infusion reactions and laboratory abnormalities, such as a decrease in the number of leukocytes, neutrophils, and lymphocytes, were most often recorded. Identified AR were expected, had mild to moderate severity, and resolved without any negative consequences. CONCLUSION: The results of the BCD-132-4/MIRANTIBUS CT indicate a high sustained efficacy and safety of long-term use of DIV in comparison with TRF during 2 years of therapy.
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Esclerosis Múltiple Recurrente-Remitente , Nitrilos , Humanos , Masculino , Femenino , Método Doble Ciego , Adulto , Resultado del Tratamiento , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Esclerosis Múltiple/tratamiento farmacológico , Imagen por Resonancia Magnética , Crotonatos/uso terapéutico , Crotonatos/efectos adversos , Hidroxibutiratos , Toluidinas/uso terapéutico , Toluidinas/efectos adversosRESUMEN
OBJECTIVE: To evaluate the clinical and laboratory correlation of biomarkers with anti- and pro-apoptotic activity with the severity of motor and non-motor symptoms depending on the progression rate of Parkinson's disease (PD). MATERIAL AND METHODS: A wide range of non-motor symptoms (emotional-affective, cognitive, psychotic and behavioral disorders, fatigue, sleep disorders and autonomic disorders) was evaluated using validated scales and a number of serum neuromarkers responsible for neuroplasticity and neuronal survival processes (BDNF, PDGF, cathepsin D) in 71 patients with PD (mean age 65 (55; 70) years, disease duration 7 (4; 9) years, age of onset 57 (49; 62) years). RESULTS: The concentration of biomarkers (BDNF, PDGF and cathepsin D) was the lowest in the group of patients with a rapid PD progression rate (p<0.001, p=0.001 and p=0.031, respectively), the severity of motor and most non-motor symptoms was higher (p=0.023 and p=0.001, respectively) compared to middle and slow progression rate. There were correlations between BDNF concentration and the severity of depression (r=-0.63, p<0.001), apathy (r=-0.48, p<0.001), impulsive behavioral disorders (r=0.500, p<0.001), level of cognitive functions (r=0.54, p<0.001), motor symptoms (r=-0.43, p<0.001); between PDGF level and the severity of motor manifestations of PD (r=-0.30, p=0.011), depression (r=-0.70, p<0.001), apathy (r=-0.460, p<0.001), the degree of severity of behavioral disorders (r=0.742, p<0.001). No significant correlations were observed between the level of cathepsin D and the severity of clinical manifestations of PD, which indicates the connection of cathepsin D with the general pathogenesis of PD. CONCLUSION: The possibility of using serum proteins of the neurotrophin subfamily and the protein associated with autophagy, cathepsin D, as biomarkers that determine the prognosis of PD, is considered.
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Biomarcadores , Factor Neurotrófico Derivado del Encéfalo , Catepsina D , Progresión de la Enfermedad , Enfermedad de Parkinson , Factor de Crecimiento Derivado de Plaquetas , Humanos , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Anciano , Biomarcadores/sangre , Factor Neurotrófico Derivado del Encéfalo/sangre , Catepsina D/sangre , Factor de Crecimiento Derivado de Plaquetas/metabolismo , Factor de Crecimiento Derivado de Plaquetas/análisis , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: To study a role of serum neurofilament light chains (sNFL) in assessment of course and progression of multiple sclerosis (MS) in the population of patients with MS in the Tomsk region. MATERIAL AND METHODS: The study involved 93 patients with relapsing-remitting MS (RRMS) and secondary progressive MS (SPMS) (nRRMS=75, nSPMS=18). The study was carried out in a two-stage design: the first stage was a cross-sectional study for the entire sample; the second stage was a prospective observation with two visits for patients with relapse. sNFL concentration was determined by solid-phase ELISA. RESULTS: There was no statistically significant difference between RRMS and SPMS, and relapse and remission groups in terms of sNFL levels. Patients with a MS duration exceeding 14 years had higher rates of sNFL than those with a shorter duration (p=0.02). The subjects of the second study stage showed a decrease in sNFL from 2.05 (1.86; 2.19) pg/ml to 1.92 (1.87; 2.04) pg/ml (p=0.005), and slowdown in sNFL reduction correlated with the severity of cognitive impairment (k=0.52; p<0.05). CONCLUSION: Dynamic monitoring of sNFL allows the evaluation of the activity of the disease, as well as making an assumption about the compensatory possibilities of subsequent recovery.
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Esclerosis Múltiple , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Estudios Transversales , Filamentos Intermedios , Estudios Prospectivos , RecurrenciaRESUMEN
OBJECTIVE: To evaluate the clinical features and the level of serum brain-derived neurotrophic factor (BDNF) in groups of patients with Parkinson's disease (PD) differentiated by the genotypes of BDNF polymorphism (rs6265). MATERIAL AND METHODS: The level of serum BDNF in the biomarkers' multiplex panel of neurodegenerative diseases (HNDG3MAG-36K) was assessed in 134 PD patients. Allele discrimination was carried out by real-time PCR using TaqMan probes for the analysis of BDNF rs6265 polymorphism in groups of patients and controls (n=192) matched for sex, age and ethnicity. RESULTS: Comparing the distribution of rs6265 genotypes and alleles between groups of patients and controls no significant differences were found (p>0.05). Serum BDNF levels varied significantly by genotype (rs6265) among PD patients. Minimum mean serum BDNF level (320.1±164.6 pg/ml) was noted for individuals with the AA genotype, which significantly differs from the corresponding indicator among individuals with GA (2944.2±1590.6 pg/ml; p=0.0001) and GG genotypes (2949.4±1620.6 pg/ml; p=3.9×10-5). The concentration of BDNF significantly differed between patients with different forms of PD (p=0.0007) and increased as the stage of the disease progressed according to Hoehn and Yahr staging scale (p=1.0×10-6). CONCLUSION: The BDNF rs6265 polymorphism was not associated with the development of PD in the studied population. The variability of the mean serum BDNF level was established depending on the genotype of the BDNF polymorphism in PD patients and a number of clinical features.
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Factor Neurotrófico Derivado del Encéfalo , Enfermedad de Parkinson , Humanos , Alelos , Factor Neurotrófico Derivado del Encéfalo/sangre , Factor Neurotrófico Derivado del Encéfalo/genética , Etnicidad , Genotipo , Enfermedad de Parkinson/genéticaRESUMEN
OBJECTIVE: To evaluate the efficacy and safety of the anti-CD20 monoclonal antibody divozilimab (DIV) used as an intravenous infusion at a dose of 500 mg for the treatment of patients with relapsing-remitting multiple sclerosis (RRMS) in comparison with the teriflunomide (TRF). The study of the efficacy and safety of the use of the drug DIV was carried out for 48 weeks of therapy. MATERIAL AND METHODS: The multicenter, randomized, double-blind and double-masked phase III clinical trial (CT) BCD-132-4/MIRANTIBUS included 338 adult patients with RRMS distributed in a 1:1 ratio into two groups: DIV 500 mg and TRF 14 mg. After screening, subjects were included in the main CT period, which consisted of two cycles of therapy over 48 weeks. The primary end point was «Mean annualized relapse rate 48 weeks after the last patient is randomized in the study¼. RESULTS: 321 subjects completed 48 weeks of therapy according to the study protocol. The analysis of the of efficacy data for the primary endpoint successively proved the hypothesis of superiority of the test drug DIV at a dose of 500 mg over the reference drug TRF. A rapid suppression of acute disease activity according to the brain MRI and clinical manifestations of the disease was shown after the first infusion of DIV in patients with RRMS. Thus, after 48 weeks of therapy in patients treated with DIV, there were no T1 gadolinium-enhancing lesions, while in the TRF group such lesions were observed in 20.7% (35/169) of subjects. Evaluation of the CUA per scan showed that the mean values for the estimated period were statistically significantly lower in the DIV drug group compared to the TRF group: the ratio of the adjusted per scan rates (DIV/TRF) was 0.125 [95% CI: 0.089; 0.177]. Over the 48 weeks of therapy, the proportion of subjects with relapses was 9.5% (n=16/169) in the DIV group and 19.5% (33/169) in the TRF group (p=0.0086). DIV has shown a favorable safety profile. Among the adverse reactions (AR), infusion reactions and deviations of laboratory data, such as a decrease in the number of leukocytes, neutrophils, and lymphocytes, were most often recorded. Identified AR were expected, had mild to moderate severity, and resolved without any negative consequences. CONCLUSION: The results of the clinical study indicate the high efficacy and safety of DIV in comparison with TRF.
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Antineoplásicos , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Adulto , Humanos , Esclerosis Múltiple/tratamiento farmacológico , Anticuerpos Monoclonales/efectos adversos , Antineoplásicos/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Método Doble Ciego , Resultado del TratamientoRESUMEN
OBJECTIVE: To investigate a disease-modifying drugs (DMD) response in multiple sclerosis (MS) in the Tomsk region population and detect clinical factors associated with the treatment response. MATERIAL AND METHODS: A 5-year prospective clinical study included 363 MS patients of the Tomsk region taking DMDs of the «first-line¼ and «second-line treatments¼. The response to DMDs therapy and the impact of MS clinical characteristics on response to treatment were assessed. RESULTS: Clinical factors associated with resistance to DMD are male gender, partial reduce of the MS onset symptoms, short period of the first remission, severe neurological impairment, high relapse rate and disease progression rate. CONCLUSION: Clinical features of MS are crucial factors associated with DMD response and should be used to prescribe DMD. This factor assessment can improve efficacy of the personalized MS treatment.
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Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Masculino , Femenino , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Estudios ProspectivosRESUMEN
OBJECTIVE: To study the effect of the RS6265 polymorphism of BDNF gene on the risk of development, main clinical characteristics and DMT response in MS patients in Tomsk region. MATERIAL AND METHODS: The study group included 321 patients, the control group consisted of 266 healthy volunteers. Deoxyribonucleic acid (DNA) was isolated from venous blood using the standard phenol-chloroform method. Genotyping was carried out by real-time polymerase chain reaction (PCR) using competing TaqMan probes complementary to the polymorphic nucleotide sequence. RESULTS: Carriage of the C allele and CC genotype of the RS6265 polymorphism of the BDNF gene was found to be a factor determining a more favorable MS course. CONCLUSION: Carriers of the indicated genotype had a low rate of MS progression, a lower frequency of relapses and a less pronounced degree of disability with a comparable MS duration, and significantly more often demonstrated a more optimal response to first and second line of DMT.
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Factor Neurotrófico Derivado del Encéfalo , Esclerosis Múltiple , Humanos , Alelos , Factor Neurotrófico Derivado del Encéfalo/genética , Genotipo , Esclerosis Múltiple/genéticaRESUMEN
OBJECTIVE: To find the optimal therapeutic dose of the anti-B cell mAb divozilimab (DIV) based on the efficacy and safety data of intravenous administration at a dose of 125 mg or 500 mg in patients with relapsing remitting multiple sclerosis (RRMS) compared to placebo (PBO) and teriflunomide (TRF). To study the efficacy and safety of DIV within 24 weeks of treatment. MATERIAL AND METHODS: A multicenter, randomized, double-blind and double-masked, placebo-controlled phase 2 clinical trial (CT) BCD-132-2 involved 271 adult patients with RRMS from 25 centres In Russia. Patients were randomly assigned (2:2:2:1) into 4 groups: TRF, DIV 125 mg, DIV 500 mg and PBO. After screening patients entered to the main period, which consisted of one cycle of therapy for 24 weeks. The primary endpoint was the total number of gadolinium-enhancing T1 lesions (Gd+) observed on brain MRI scans after 24 weeks (per scan - involves estimating the mean value of the score from all the MRI assessments performed for each participant in the study). RESULTS: 263 patients completed 24 weeks of treatment. Most of the patients in the DIV groups had no lesions on T1-weighted MRI after 24 weeks of treatment (94.44% on 125 mg and 93.06% on 500 mg). In the TRF and PBO groups the values were significantly lower: 68.06% and 56.36% respectively (both p<0.05). The proportions of relapse-free patients in the DIV groups were 93.06% and 97.22% (125 mg and 500 mg, respectively). As expected, DIV reduced the CD19+ B-cells. However, the repopulation rate of CD19+ B-cells in the 125 mg group was more pronounced (mainly due to the recovering pool of CD27-naive B-cells) compared to the 500 mg group. DIV showed a favorable safety profile at both doses. CONCLUSION: Thus, the assessment of 24 weeks treatment demonstrated that DIV is a highly effective, safe and convenient option for the treatment of RRMS patients, both naive and previously treated with disease modifying therapy. A dose of 500 mg is recommended for further efficacy and safety evaluation during phase 3 CT.
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Antineoplásicos , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Adulto , Humanos , Esclerosis Múltiple/tratamiento farmacológico , Anticuerpos Monoclonales , Antineoplásicos/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Infusiones Intravenosas , Método Doble Ciego , Imagen por Resonancia Magnética , Resultado del TratamientoRESUMEN
OBJECTIVE: To study the dynamics of population indicators: the total number of deaths from diseases of the circulatory system, coronary heart disease, cerebrovascular diseases and strokes, hospitalization profile for strokes, their structure and mortality in the Tomsk region for several years in comparison with these indicators for the Russian Federation and the Siberian Federal District. MATERIAL AND METHODS: A retrospective study was conducted using acute cerebrovascular accidents monitoring data and data of the Territorial body of state statistics of the Tomsk region in comparison with the literature data. The indicators of all causes of death, from circulatory diseases, coronary heart disease, cerebrovascular diseases and stroke in the territory of the Tomsk region, profile of hospitalization, structure of acute cerebrovascular accidents were analyzed for several years. Particular attention was paid to case fatality rate, one of the key indicators of the effectiveness of the system of care for patients with stroke. RESULTS: Typical for many regions of the Russian Federation predominance of chronic forms in the structure of mortality from circulatory diseases, the absence of significant differences in the structure of strokes, as well as the features of the Tomsk region in the form of high levels of hospitalization profile and hospital case fatality rate, were revealed. The dependence of hospital mortality on logistics is shown, on the basis of which assumptions are made about the possible causes of high fatality rates in the region: excessive centralization of the system of vascular centers and the absence of really working mechanisms for timely reevacuation from them. CONCLUSION: To bring chronic circulatory diseases structure in line with international standards, it is necessary to regulate the rules for formulating and coding diagnoses. In order to reduce hospital fatality rates in the Tomsk region, it is necessary to carry out organizational measures: opening a primary vascular department in the area of responsibility of the regional stroke center, as well as strengthening rehabilitation and palliative services for the timely reevacuation of patients from vascular centers.
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Enfermedades Cardiovasculares , Sistema Cardiovascular , Accidente Cerebrovascular , Humanos , Estudios Retrospectivos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/terapia , Federación de Rusia/epidemiología , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/terapiaRESUMEN
Mild encephalopathy with a reversible splenial lesion (MERS) is a clinical and radiological syndrome that can be caused by infectious and non-infectious factors. The most common neurological symptoms are impaired consciousness, impaired speech, convulsions, muscle weakness, ophthalmoplegia, facial paralysis, and headache. A case of a 5-year-old child with a leading clinical symptom of bilateral transient blindness and radiological characteristics of MERS syndrome is presented.
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Encefalopatías , Cuerpo Calloso , Encefalopatías/diagnóstico , Preescolar , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Cefalea/patología , Humanos , Imagen por Resonancia Magnética , SíndromeRESUMEN
Genetic factors underlie the pathological processes that cause the manifestation of a wide range of neurodegenerative diseases. The pathological expansion of unstable trinucleotide repeats is known to lead monogenic neurological diseases such as Huntington's disease, Kennedy's disease, spinocerebellar ataxia, and others. However, the latest data suggests individuals with intermediate allele (IA) repeat length have a risk of developing common neurological phenotype, for example, Parkinson's disease, Alzheimer's disease. In this study, we review the current knowledge on intermediate alleles of HTT gene for pathogenesis and clinical features of neurodegenerative diseases, with the focus on Parkinson's disease. Early diagnosis of neurodegenerative disease and genetic counselling of the family can be improved via the implementation of specific management strategies of IA carriers by team of highly experienced professionals in the fields of neurology and genetics.
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Enfermedad de Huntington , Enfermedades Neurodegenerativas , Enfermedad de Parkinson , Alelos , Humanos , Proteína Huntingtina/genética , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/genética , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/genética , Enfermedad de Parkinson/genética , Expansión de Repetición de Trinucleótido , Repeticiones de Trinucleótidos/genéticaRESUMEN
Multiple sclerosis (MS) is a chronic autoimmune disease with a high degree of heterogeneity due to course and prognosis. More than half of MS patients do not discuss their long-term prognosis with the doctor. At the same time, most patients consider the importance of personalized prognosis for decisions in family planning, career, and medical interventions. Clinical markers are used to determine the prognosis in routine clinical practice. However, it is nominally divided into positive and negative factors. It allows making a general conclusion about the MS prognosis. Neuroimaging and biological markers are used mostly for research purposes. But also they are already actively used in clinical trials for endpoint`s investigation. The review describes studies investigating prognostic clinical, neuroimaging, and biological markers.
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Esclerosis Múltiple , Biomarcadores , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Neuroimagen , PronósticoRESUMEN
BACKGROUND: The issue of the diagnostic significance and clinical value of neuron-specific enolase (NSE) and brain-derived neurotropic factor (BDNF) in the acute period of stroke remains controversial. Therefore, it is advisable to study the correlation of biomarkers with the clinical characteristics of stroke in the time period of early recovery. OBJECTIVE: To monitor NSE and BDNF levels in peripheral blood, to analyze the clinical and laboratory correlations in patients with ischemic stroke at the stages of medical rehabilitation in the early recovery period. MATERIAL AND METHODS: Forty-nine patients with ischemic stroke in the middle cerebral artery were examined. The observation period is 90 days. Observation Points are Day 1; Day 14; Day 45; Day 90. The National Institute of Health Stroke Scale (NIHSS), the Fugle-Meyer Scale (FMA), the Modified Rankin Scale (mRS) were administered. NSE was determined in blood serum by enzyme-linked immunosorbent assay, BDNF was analyzed on a multiplex analyzer. RESULTS AND CONCLUSION: NSEDay1 in patients was significantly higher than in the comparison group (pDay1-comparison group<0.001) with a trend to a maximum decrease on the 90th day of stroke (pDay1-90<0.001). BDNFDay1 turned out to be lower than in the comparison group (pDay1-comparison group=0.006) and significantly increased by the 14th day of the stroke (pDay1-14<0.001; pDay14-comparison group=0.637). A negative correlation was found between a decrease in NSEDay14 and an increase in BDNFDay14 (r= -0.349; p=0.05). A positive correlation was found between an increase in BDNFDay14 and a decrease in mRS scores Day90 (r=0.499, p=0.035). Outcomes in patients in group 1 (after stages I and II of rehabilitation) on the assessment scales were significantly better than in patients discharged after stage I for outpatient monitoring - group 2 (p<0.05). In group 1, BDNFDay90 did not differ from BDNFDay14 (pDay14-90-Group1=0.17), and in group 2 it was significantly lower by the end of the early recovery period (pDay14-90-Group2=0.002).
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Isquemia Encefálica , Accidente Cerebrovascular , Encéfalo , Factor Neurotrófico Derivado del Encéfalo , Humanos , Fosfopiruvato Hidratasa , Rehabilitación de Accidente CerebrovascularRESUMEN
The review presents data on brain-derived neurotrophic factor (BDNF), its structure and functions, the effect on the pathogenesis of experimental autoimmune encephalomyelitis and multiple sclerosis (MS). The correlation of BDNF level with clinical manifestations of MS and the changes of its level during disease-modifying therapy is considered.
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Factor Neurotrófico Derivado del Encéfalo , Encefalomielitis Autoinmune Experimental , Esclerosis Múltiple , Animales , Factor Neurotrófico Derivado del Encéfalo/análisis , Esclerosis Múltiple/diagnósticoRESUMEN
AIM: To study the efficacy of complex therapy in the correction of cognitive impairment in patients with chronic cerebral ischemia. MATERIAL AND METHODS: One hundred patients with chronic cerebral ischemia were examined. All of them received standard neurometabolic therapy. In the main group, patients were additionally treated with soft techniques of manual therapy. Cognitive status was assessed using the frontal assessment battery, the clock drawing test, MMSE, the Global Deterioration Scale and a sequencing test. RESULTS AND CONCLUSION: Patients with chronic cerebral ischemia demonstrated a significant impairment of cognitive functions. Patients who received comprehensive (drug and non-drug) treatment showed a more significant improvement in cognitive status than those receiving only neurometabolic therapy.
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Isquemia Encefálica , Disfunción Cognitiva , Cognición , Humanos , Pruebas NeuropsicológicasRESUMEN
Pathophysiological processes in multiple sclerosis frequently not diagnosed by clinicians become available for analysis only on the basis of paraclinical data (biomarkers). Nowadays neurofilament light chain can be defined as a promising biomarker for multiple sclerosis (MS). Neurofilaments are a structural part of normal neuronal processes consisting of light, intermediate and heavy chains. However, a damage of neurons such as neurodegeneration or axonal damage causes the escape of neurofilaments into extracellular space. Cutting-edge highly sensitive methods make it possible to detect neurofilament light chains not only in the cerebrospinal fluid but also in the blood serum thus opening the opportunities to utilize them in routine diagnosis in clinical practice. This review comprises existing data on the possible opportunities for research of serum neurofilament light chains in terms of exacerbations, effectiveness of basic therapy, assessment of individual disability, the atrophy of central nervous system structures. Also, there is some information on comparison of two methods: routine MRI of the brain with the contrast agents and detection of serum neurofilament light chains.