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Russian neurological journal

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Vol 28, No 5 (2023)
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REVIEWS

5-13 627
Abstract

Composition of tear fluid alter not only in ocular diseases but in systemic pathologic processes including central nervous system (CNS) disorders. It is due to the variety of regulatory pathways for the tear production with active participation of CNS. The review represent data about mechanisms of tear production regulation, sources of metabolites present in tears, alterations of tear fluid composition in Alzheimer’s and Parkinson diseases, multiple sclerosis and amyotrophic lateral sclerosis. These neurodegenerative diseases are accompanied by typical alteration of concentrations of different protein bioregulators (cytokines, growth factors, synucleins, etc.) and catecholamines. These alterations often correlate with ones in cerebrospinal fluid appearing even before the clinical manifestation of the disease. Thus tear fluid analyses is a promising non-invasive method for the early diagnostic, prognosis and monitoring of neurodegenerative diseases, and also for the personalized therapy. We tried to represent the most recent data because interest to this problem has increased during the last years, and our own data also.

14-20 459
Abstract

The purpose — is to study the available scientific data on the effectiveness of the application of remote rehabilitation technologies in patients with cerebral pathology at the present stage.

Material and methods. The search for relevant publications was carried out using the databases Cochrane Library, eLIBRARY.RU, PubMed, Google academy, MedLine, EBSCO, Scopus, Web of science, PEDro, CINAHL, Eric, Springer/nature, Elsevier. The review included 48 papers (systematic reviews, meta-analyses, randomized controlled trials) concerning the use of remote rehabilitation methods in patients with cerebral pathology.

Results. Telerehabilitation has been shown to be an emerging healthcare field and the COVID-19 pandemic has accelerated this development. The use of new technologies in the rehabilitation of patients with impaired motor and cognitive functions will improve the quality of care provided for medical rehabilitation, ensuring the continuity and succession of ongoing activities. The use of remote rehabilitation is comparable or even superior in clinical results to an alternative to home training, and the controlled format helps to increase the motivation of patients and improve efficiency. Limitations and obstacles to the implementation of specific technologies are given, ways to overcome them are shown.

21-27 480
Abstract

Hepatic encephalopathy in the initial stages is a diagnostically challenging clinical phenomenon, based on the accumulation of ammonia. Symptoms of encephalopathy are extremely varied: from a slight cognitive decrease and minimal affective disorders to disorders of consciousness and coma in the terminal stages. However, the severity of liver pathology and neurophysiological and neuroimaging data do not always correlate with the severity of encephalopathy. The greatest difficulties in diagnosis arise at the initial stage of the disease, and a timely recognized and established diagnosis can not only slow down the progression of cognitive deficits and characterological changes, but also significantly improve the patient’s prognosis.

CLINICAL RESEARCHES AND CASE REPORTS

28-34 441
Abstract

Introduction. In recent years, progress in understanding the genetic mechanisms underlying susceptibility to degenerative spinal pathology has been achieved due to advances in molecular genetics.

Objective: conduct a comparative analysis of the genotypes and alleles frequencies of type I collagen genes (COL1A1 C-1997A (rs110946) A > C, COL1A1 G-1245T (rs1800012) G > T) and vitamin D receptor (VDR: 283 (Bsml) A > G) in young patients with chronic musculoskeletal back pain.

Material and methods. The main group consisted of 70 patients (39 women and 31 men, average age 40 [38; 43] years) with chronic (more than 3 months) musculoskeletal back pain. The control group consisted of 16 healthy individuals (8 women and 8 men, average age 35 [31; 40] years). Determination of the VDR: 238 (Bsml) gene polymorphism was carried out in real time by the polymerase chain reaction (PCR) method on a DT-light amplifier (DNA-Technology, Russia) using reagent kits “Genetics of calcium metabolism” (DNA-Technology, Russia). Determination of collagen gene polymorphisms was carried out by PCR on a Real-time CFX96 Touch amplifier (Bio-Rad Laboratories, USA) using reagent kits produced by Synthol (Russia). Statistical analysis of the obtained data was performed using the SPSS Statistics 19 software package. An allele frequency was calculated by using the formula f = n/2N, the genotypes frequency — by using the formula f = n/N (where N is the sample size, n is the prevalence of variants). The statistical significance of allele and genotype frequencies was assessed using the ꭓ2 criterion. We calculated the odds ratio (OR) to assess the relative risk and its 95% confidence interval (CI): OR = DE/HE/DNE/HNE, where DE and HE are the number of patients in the main and control groups with the risk factor, DNE and HNE — the number of patients without a risk factor.

Results. Patients with chronic musculoskeletal back pain differed from the healthy individuals in a higher incidence of fl at feet (p = 0.022), spinal scoliosis (p = 0.005), increased fragility of the nail plate (р = 0.000) and myopia (p = 0.25). It has been established that chronic musculoskeletal back pain in young patients is genetically related to the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) (χ2 = 6.779; p = 0.020; OR = 4.308; 95% CI [1.363; 13.616]).

Conclusions. The presence of the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) in young patients is associated with a genetically determined higher susceptibility to the development of musculoskeletal back pain.

35-39 841
Abstract

Neurofilaments are the structural components of neuronal axons, therefore are increasingly used in the diagnosis and course evaluation of neurological diseases. Potential application in multiple sclerosis (MS) is disease diagnosis.

The aim of this work was to assess the level of serum neurofilament light chains (sNFL) to analyze the diagnostic value in MS.

Material and methods. The study group included patients diagnosed with MS (n = 93), mean age — 38.1 (33.6; 45.9) years, EDSS 4 (2; 5.0) points. 75 patients (80.7%) had a relapsing-remitting course (RRMS), 18 (19.3%) had a secondary progressive course (SPMS). The comparison group (n = 40) consisted of forty age- and sex- matched volunteers. The concentration of sNFL was determined by enzyme-linked immunosorbent assay using a multimodal microplate reader Thermo Scientific Varioskan LUX (The Core Facility “Medical Genomics”, Tomsk NRMC). Statistical processing was carried out in the Statistica 12.0, the Mann-Whitney coefficient and ROC curve were used.

Results. The sNFL index in patients was higher than in the control group (2.08 (1.88; 2.23) and 1.96 (1.88; 2.08) pg/ml, p = 0.006). However, statistically significant differences were achieved with more than 5 years of MS duration. Sensitivity and specificity were 67.5% and 61.5%, respectively.

Conclusion. The sNFL can`t be considered as an early biomarker in MS, so its use in the primary diagnosis of the disease is not appropriate.

40-51 383
Abstract

The diversity and inconsistency of the proposed tactics for diagnosing and treating patients with facial nerve neuropathy (FNN) can cause difficulties for neurologists in their daily routine work.

Aim. To analyze the routing of patients with FNN, the clinical practice of diagnostic studies and medical care in polyclinics and hospitals in Moscow.

Material and methods. Analysis of data from the EMIAS system from polyclinics and hospitals in Moscow based on 7344 cases of primary treatment of patients with a diagnosis of FNN for 2019–2021: Gr1 — idiopathic (n = 4265), Gr2 — symptomatic (n = 3079), with the definition of patient routing, volume of diagnosis and treatment.

Results. Gr1 patients visit the polyclinic (61.6%) on 8th [3; 20] day from the onset of symptoms, Gr2 — on 10th [3; 28.2]; to the hospital (38.4%) — on 1st [0; 3]. Clinical examination is variable, mainly the primary manifestations of FNN are indicated by the method of describing the deficiency. Laboratory diagnostics includes a clinical blood test (8%), the search for a viral or other cause (in isolated cases). Magnetic resonance imaging is done in different regimes (even in Gr1), only in 1/4 of cases with contrast. Recommended consultations of an otorhinolaryngologist, an ophthalmologist, rarely — doctors of surgical specialties, an exercise therapy doctor, a psychologist. The volume of diagnostics is greater in the hospital (p < 0,001). The list of drug therapy varies from evidence-based drugs to homeopathic remedies. In the polyclinic, 2/3 of the specialists prescribe the dose of prednisolone in accordance with foreign clinical recommendations, in the hospital — 1/2 (x2 = 4,83; p = 0.028). However, every second case goes beyond the “therapeutic window” due to the late visit of the patient. The most commonly used vitamins of group B (32.5%), anticholinesterase drugs (28.9%), thioctic acid (15.5%). Antiviral drugs were prescribed in 2% of cases, in the polyclinic eye care measures — less than 2%, in the hospital — 20%. Non-drug treatment includes physical therapy (21.8%), physiotherapy (14.2%), acupuncture (6.4%), facial massage (2.9%), tape correction (1.9%).

Conclusions. Differences in approaches to the diagnosis, treatment and routing of patients with FNN were found. The problem can be solved by creating Russian clinical guidelines, including a unifi ed protocol for clinical examination, laboratory and instrumental diagnostics

52-59 455
Abstract

Introduction. Modern methods of recanalization — systemic thrombolytic therapy (STT) and mechanical thrombectomy (MT) — allow restoring blood fl ow in the brain tissue in ischemic stroke (IS).

Purpose of the study: to analyze the effectiveness of IS reperfusion therapy methods used in the Regional Stroke Center (RSC) of the Tomsk Regional Clinical Hospital from 2017 to 2022.

Material and methods. A retrospective evaluation of 666 analyzed cases of specific therapy for IS was performed: 505 cases of STT (67 [59.0; 75.0] years), 126 cases of MT (69 [60.5; 77.5] years), 35 cases a combination of STT followed by MT (69 [63.0; 76.7] years).

Results. The severity of neurological deficit according to the National Institutes of Health Stroke Scale (NIHSS) before the intervention was greater in the MT and STT + MT groups (18 [14.0; 25.0] and 18 [14.5; 20.0] points) relative to patients who received STT (11 [8.0; 16.0] and 4 [2.0; 10.0]). Mortality in the MTE group was (64/127, 50.8%) and was higher compared to patients who received STT (104/505, 20.6%, p < 0.001). In the group of patients who underwent combined intervention with STT + MT (9/27, 25.7%), there was a trend towards lower mortality (p = 0.050) compared with isolated MT.

Conclusion. A trend towards fewer deaths was found when using a combined intervention in the treatment of IS compared with isolated MT, which may indicate a higher effi ciency of bridging-therapy.

60-66 1269
Abstract

The ocular myasthenia gravis and blepharospasm are two diseases that can involve the periocular area in the pathological process. In both diseases, patients complain of closing their eyes. In both cases may be observed frequent blinking, worsening of symptoms in bright light. Blepharospasm associated with a violent contraction of the circular muscle of the eye, and myasthenia gravis related pathology of the neuromuscular synapse of the extraocular muscles. The article presents the clinical features of both diseases and diagnostic maneuvers that help in determining the diagnosis of the ocular myasthenia gravis and blepharospasm in clinically difficult cases.

67-70 3406
Abstract

Harlequin syndrome (HA) is a rare pathology. It is manifested by isolated unilateral facial flushing (less often the face and limb), sometimes with concomitant hyperhidrosis and Horner’s syndrome. In most cases, this is an idiopathic condition with a benign course. However, HA can be a manifestation of serious diseases, as well as a complication of surgical interventions at the cervical and upper thoracic levels. We present clinical case of a female patient with Harlequin syndrome as well as a short review of scientific literature.



ISSN 2658-7947 (Print)
ISSN 2686-7192 (Online)