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Introduction: Hereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb-girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more than 30 genes. Clinically, LGMD is characterized by limb-girdle muscular weakness (LGMW). Late-onset Pompe disease is an important disorder with a differential diagnosis for LGMD, where next-generation sequencing (NGS) plays a crucial role in accurate and prompt diagnosis. The sensitivity and specificity of a 10-gene NGS panel have been previously evaluated for the prevalent forms of recessive LGMD (LGMD-R) and Pompe disease in Latin American patients with LGMW of unknown cause. This project aims to identify the regional relative prevalence of frequent LGMD-R subtypes and Pompe disease in a larger geographic area and to diagnose patients with LGMW by identifying genetic variants of LGMD-R and Pompe disease., Methods and Results: This 21-country multicentric analysis enrolled 2,372 patients with LGMW from 2017 to 2018. Sequencing analysis was performed using the Illumina NextSeq 500 system, and variant interpretation was performed according to the American College of Medical Genetics and Genomics guidelines. Pathogenic or likely pathogenic variants were seen in 11% of patients (n = 261). Among the positive cases, NGS effectively diagnosed 86.2% and 13.8% of patients with LGMD and Pompe disease, respectively. The most prevalent pathogenic acid α-glucosidase ( GAA) variant identified was c.-32-13T > G., Conclusion: The study adds to the knowledge of the relative occurrence of various subtypes of LGMD worldwide. The inclusion of GAA in the NGS panel to investigate patients with LGMW is a powerful diagnostic approach to screen for late-onset Pompe disease., Competing Interests: JAB, AMA, AAM, AAF, HD, JC, AA, PS, SSN, SV, and RA have received advisory board honoraria from Sanofi. JAB has received travel support and lecture and speaker honoraria from Sanofi. MGR has nothing to disclose. AF, RA, NT, and ND are employees of Sanofi and hold shares and stock options. The funder had the following involvement in the study: logistic support and editorial assistance for the development of this manuscript., (Copyright © 2024 Bevilacqua, Al-Salti, Al Madani, Alves da Fonseca, Durmus, Chai, Alshehri, Ribeiro, Sgobbi, Nikitin, Vargas, Furtado, Thibault, Araujo and Daba.)

Background: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once., Case Presentation: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers., Conclusions: This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity., (© 2024. The Author(s).)

The oxygen content was measured in cubic perovskite-type La 1/3 Sr 2/3 Fe 1- x Mn x O 3- δ ( x = 0.1, 0.17, 0.25, and 1/3) in the range of oxygen partial pressure from 10 -22 to 0.5 atm at 750-950 °C with a step of 50 °C by coulometric titration. Gradual removal of oxygen from the oxides during the measurements was carried out until the stability limit was achieved and the reductive decomposition began. An increase in manganese content was shown to lead to a decrease in the stability of La 1/3 Sr 2/3 Fe 1- x Mn x O 3- δ under reducing conditions. The obtained data on oxygen content were used for defect chemistry modeling in the oxides. The enthalpy of the Fe 3+ to Fe 4+ and Mn 3+ to Mn 4+ oxidation reactions (Δ H ox 0 ) was determined to be -103.2 ± 0.3 and -250 ± 2 kJ mol -1 , respectively, for the x = 0.1 composition, and increased slightly with increasing manganese content. The large difference in Δ H ox 0 determines a strong distinction between the behavior of iron and manganese in perovskite-type oxides. An increase in manganese content in La 1/3 Sr 2/3 Fe 1- x Mn x O 3 -δ was found to lead to a decrease in the concentration of Fe 4+ ions, but did not affect the concentration of Fe 2+ ions. The impact of La/Sr ratio was evaluated by comparison of the obtained data with that for La 0.5 Sr 0.5 Fe 1- x Mn x O 3 -δ , and found to be different for iron and manganese. An increase in lanthanum fraction causes a decrease in the concentration of Fe 2+ ions and an increase in the concentration of Mn 2+ under reducing conditions.

The expert consensus is aimed to develop an algorithm for the diagnosis and treatment of mononeuropathies for outpatient neurologists. Leading experts in the field of neurology have suggested workup options for certain types of tunnel mononeuropathies based on current data on the effectiveness and safety of various types of conservative and surgical treatment.

Perovskite-type La 0.5 Sr 0.5 Fe 0.9 Mo 0.1 O 3- δ synthesized via glycine nitrate combustion and sintered at 1350 °C was found to have an orthorhombic lattice, which transforms upon heating into a rhombohedral and then a cubic one. The oxygen content and electrical conductivity in this oxide were measured in the range of oxygen partial pressures from 10 -20 to 0.5 atm at 750-950 °C by coulometric titration and four-probe dc techniques, respectively. The oxygen content data were used to model the defect equilibrium in the oxide. Oxidation, charge disproportionation and electron exchange reactions between iron and molybdenum were assumed by the model to be involved in the formation of defects. The experimental data were well approximated with the model and the concentrations of charge carriers in La 0.5 Sr 0.5 Fe 0.9 Mo 0.1 O 3- δ were determined to be used for the electrical conductivity analysis. The average mobility of oxygen ions and n- and p-type charge carriers was determined to be about 10 -5 , 0.007, and 0.07 cm 2 V -1 s -1 with an activation energy of 0.80 ± 0.02, 0.34 ± 0.01, and 0.23 ± 0.01 eV, respectively. Comparison with La 0.5 Sr 0.5 FeO 3- δ shows that 10% Mo substitution provides a substantial increase in both the concentration and mobility of n-type carriers, which results in an almost threefold increase in electron conductivity under reducing conditions, while maintaining a high level of ionic conductivity.

The structure, oxygen non-stoichiometry, and defect equilibrium in perovskite-type PrBa 1- x Sr x Fe 2 O 6- δ ( x = 0, 0.25, 0.50) synthesized at 1350 °C were studied. For all compositions, X-ray diffraction testifies to the formation of a cubic structure (S.G. Pm3¯m), but an electron diffraction study reveals additional diffuse satellites around each Bragg spot, indicating the primary incommensurate modulation with wave vectors about ±0.43a*. The results were interpreted as a sign of the short-order in both A-cation and anion sublattices in the areas of a few nanometers in size, and of an intermediate state before the formation of an ordered superstructure. An increase in oxygen deficiency was found to promote the ordering, whereas partial substitution of barium by strontium caused the opposite effect. The oxygen content in oxides as a function of oxygen partial pressure and temperature was measured by coulometric titration, and the data were used for the modeling of defect equilibrium in oxides. The simulation results implied oxygen vacancy ordering in PrBa 1- x Sr x Fe 2 O 6- δ that is in agreement with the electron diffraction study. Besides oxidation and charge disproportionation reactions, the reactions of oxygen vacancy distribution between non-equivalent anion positions, and their trapping in clusters with Pr 3+ ions were taken into account by the model. It was demonstrated that an increase in the strontium content in Pr 0.5 Ba 0.5- x Sr x FeO 3- δ suppressed ordering of oxygen vacancies, increased the binding energy of oxygen ions in the oxides, and resulted in an increase in the concentration of p-type carriers.

The article presents the work of a multidisciplinary team of experts from various fields of medicine to optimize the «Questionnaire for assessing chronic pelvic pain and pelvic organ dysfunction (QCPPD) of the Ryzhikh National Medical Research Centre for Coloproctology» for use in clinical practice. The survey of respondents was conducted from June 28 to September 28, 2021. As a result of this survey, by repeatedly making edits and clarifications during communication with respondents, the final version was obtained, which allows assessing the patient's subjective sensations by the nature and localization of pelvic pain, sensitivity disorders and pelvic organ function. The main objective of this Questionnaire is to differentiate patients with neurogenic pain from a huge number of patients with chronic pelvic pain. This aspect will allow a more targeted approach to the diagnosis and pathogenetically justified treatment of patients, including after appropriate instrumental examinations. The work of a multidisciplinary team implies a higher degree of objectification and terminological accuracy of the Questionnaire under discussion. The presented version of the «Questionnaire for assessing chronic pelvic pain and pelvic organ dysfunction (QCPPD) of the Ryzhikh National Medical Research Centre for Coloproctology» will be primarily used in coloproctological patients with pelvic pain problems and anal incontinence and obstructive defecation. Further studies will be directed to the clinical evaluation of the results of the work carried out.

The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy., Materials and Methods: Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immunohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken., Results: Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distinguished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished., Conclusions: Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations., (©2021 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.)

The oxygen content in La 0.5 Sr 0.5 Fe 1- x Mn x O 3- δ , measured by coulometric titration in a wide range of oxygen partial pressure at various temperatures, was used for defect chemistry analysis. The obtained data were well approximated by a model assuming defect formation in La 0.5 Sr 0.5 Fe 1- x Mn x O 3- δ via Fe 3+ and Mn 3+ oxidation reactions and charge disproportionation on Fe 3+ and Mn 3+ ions. The partial molar enthalpy and entropy of oxygen in La 0.5 Sr 0.5 Fe 1- x Mn x O 3- δ obtained by statistical thermodynamic calculations were found to be in satisfactory agreement with those obtained using the Gibbs-Helmholtz equations, thus further confirming the adequacy of the model. The impact of manganese substitution on defect equilibrium in La 0.5 Sr 0.5 Fe 1- x Mn x O 3- δ was shown to be attributed to a lower enthalpy of Mn 3+ oxidation reaction ( vs. for the oxidation of Fe 3+ ) and the charge disproportionation reaction on Mn 3+ ( vs. for that on Fe 3+ ). The former makes Mn 4+ ions more resistant to reduction than Fe 4+ . The latter favors the presence of Mn 2+ , Mn 3+ , and Mn 4+ ions in oxides in comparable concentrations. The distribution of charge carriers over iron and manganese ions was determined as a function of oxygen content in La 0.5 Sr 0.5 Fe 1- x Mn x O 3- δ .

The oxygen content and electrical conductivity in Nd 0.25 Sr 0.75 FeO 3-δ were measured in the range of oxygen partial pressure from 10 -19 to 0.5 atm at 750-950 °C by coulometric titration and four-probe dc techniques. The thermodynamic analysis of defect equilibrium in the oxide allowed successful simulation of the oxygen content data and calculation of charge carrier concentrations that were used for the analysis of electrical conductivity. The electrical conductivity data were accurately described in the models, which implied that the hole mobility increased upon an increase in the oxygen content in the oxide. The results suggest that only some of the Fe 3+ sites are available for hole transport, and their fraction increases with an increase in the oxygen content. The migration energy for oxygen ions, electrons and holes was found to be 0.89 ± 0.02, 0.62 ± 0.01 and 0.230 ± 0.006 eV, respectively. Nd 0.25 Sr 0.75 FeO 3-δ was shown to have a considerable oxygen conductivity (0.12 S cm -1 at 950 °C) and fairly good stability under reducing conditions, which is a good recommendation for using this oxide as a functional material in high-temperature electrochemical applications.

Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In this study, we analyzed a peripheral neuropathy caused by pathogenic variants in the HINT1 gene and evaluated its contribution to the hereditary neuropathy structure. The studied group included 1596 non-related families diagnosed with hereditary motor and sensory neuropathy (HMSN). The results show that HINT1 gene pathogenic variants make a significant contribution to the hereditary neuropathy epidemiology in Russian patients. They account for at least 1.9% of all HMSN cases and 9% of axonopathy cases. The most common HINT1 pathogenic variant in Russian patients is the c.110G>C (p.Arg37Pro) substitution. Its allelic frequency is 0.2% (95% CI 0.19-0.21%), carrier frequency is 1 in 250 people in Russian Federation, and the estimated disease incidence is 1 in 234,000 individuals. It was determined that the cause of this pathogenic variant's prevalence is the founder effect.

Objective: To describe clinical and sonographic features of confirmed intraneural perineurioma in 5 patients., Material and Methods: We report clinical and sonographic features and retrospective follow-up data in 5 patients with intraneural perineurioma verified by biopsy., Results: In all cases, symptoms were represented by a slowly progressive painless mononeuropathy with muscle atrophy and impaired tendon reflexes. Ultrasound examination revealed locally enlarged cross-sectional area of the nerve that was confirmed by intraoperative visualization., Conclusion: Intraneural perineurioma should be obligatory suspected in case of fusiform thickening of the nerve with locally changed echogenicity. Pooled multiple-center studies with large samples are needed to determine sensitivity and specificity of the main ultrasound parameters including changes in cross-sectional area and echogenicity of the nerve.

The authors report the clinical case of a 7-year-old child with gradual development in left leg weakness considering by the neurologist as the unknown lesion of the sciatic nerve. According to the results of clinical and instrumental examinations, the diagnosis was established as a focal form of chronic inflammatory demyelinating polyneuropathy (CIDP). The dysimmune cause of the disease was confirmed by MRI of the lumbosacral plexus with contrast enhancement of neural structures and response to therapy with high-dose intravenous immunoglobulin in combination with corticosteroids.

Differential high-resolution ECG (V1-V2) and pelvic electric potential measured between the coccyx and perineum were recorded simultaneously in resting supine position in men with autonomic nervous system disorders (N=37). In healthy volunteers (N=23), the effective (rms) value of PEP presented by median and interdecile range was 30 (20-80) μV within the frequency band of 0.03-80 Hz. In patients, the corresponding value was significantly higher: 140 (80-280) μV. In both groups, the amplitude harmonic spectrum of pelvic electric potential decreased monotonically with frequency according to 1/f1.6 law. In some patients (N=16), rare single or grouped high-amplitude impulses (up to 1 mV) of pelvic electric potential with total duration of about 1 sec were observed; of them, some persons (N=7) demonstrated practically one-to-one synchronous relations between these impulses and arrhythmia episodes indicating abnormal activity of the autonomic nervous system as their most probable common cause. The high-amplitude pelvic electric potential impulses were also observed in ECG records as interference signals with an amplitude attaining 50 μV. Thus, high-resolution ECG and pelvic electric potential can reveal the risk of abnormal neurogenic influences on the heart. The data obtained are discussed in relation to diagnostics of the autonomic nervous system disorders, neurogenic arrhythmias, and risk of sudden cardiac death.

Among many causes of compression neuropathies involving the radial nerve, compression of the posterior interosseous nerve (PIN) by the returning radial arteries is rare., Objective: To describe the clinical instrumental characteristics of cases of mononeuropathy caused by compression of the return radial arteries., Material and Methods: Two observations with neuropathy of the deep branch of the radial nerve, manifested by weakness in the corresponding muscles, inconsistent pain syndrome with previous stereotypic (recurring) physical activity are presented., Results: According to the results of ultrasound examination of posterior interosseous nerve, a local hypoechogenic increase in the cross-sectional area of nerve of different lengths was revealed. During surgical decompression of the nerve, in the first case, a tight arterial loop was found around the nerve, in the second case, expanded arterial trunks, one of which, of small diameter, covered the nerve in the 'loop', and the other, larger, pierced the nerve. After the operation, regression of motor deficiency and relief of pain were noted.

Aim: To describe the sonographic phenomenon of the focal 'hourglass-like constriction' of the peripheral nerves (FCPN)., Material and Methods: The authors described 7 patients meeting the criteria for the diagnosis of neuralgic amyotrophy with unilateral FCPN identified with ultrasound in 4 cases and detected intraoperatively in 3 cases (preliminary ultrasound was not performed). The US scanner Sonoscape Pro mode gray scale in the transverse and longitudinal scanning, linear probe 8-15 MHz and Logiq9 scanner with elastography were used., Results: FCPN was detected in the single nerve in 4 patients, in two nerves in 2 patients and in 3 nerves in one patient. Among all the nerves involved in the pathological process, the radial nerve and its branches were affected in 73% (8 nerves); the ulnar nerve was involved in 18% (2 nerves) and the musculo-cutaneous nerve in 9%. The length of the constriction of the peripheral nerve did not exceed 1.7 mm. The deformation coefficient (DC) of constriction area was 3.8 to .,9; the change in the elasticity in the form of an increase of DC to 5.9 when compared to the intact portion of the nerve and a decrease in echogenicity were observed in one patient., Conclusion: High-resolution ultrasound of the nerve can be an informative method for the diagnosis of idiopathic non-traumatic FCPN mononeuropathy.

Pompe disease (PD) is a rare autosomal recessive muscle lysosomal glycogenosis caused by a deficiency of acid-α-glucosidase. There are two main forms of the disease: aggressive infantile PD started within the first year of life with a severe enzyme deficiency and multiorgan involvement, and late onset PD (LOPD) with progressive signs and symptoms including predominant proximal, axial muscle weakness and respiratory insufficiency started at any time from 1 till 75 years and older. Usually due to physician's unawareness, most adults with PD are diagnosed with great delay. The typical features and early nonspecific signs in four patients, aged between 35 and 72 years, with confirmed LOPD are delineated and discussed in correspondence with the age of first signs, age development of muscle weakness, distribution and age of final diagnosis. The disorders for differential diagnosis and spectrum of conditions that expanded the possibility of PB are listed. The fluorometrically analyzed level of acid α-glucosidase from dried blood spots is considered to be the first choice diagnostic method for clinically suspected cases of LOPD.

POEMS-syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein, and Skin Changes) is a rare nosological form occurred in patients with paraproteinemic hemoblastosis. Chronic progressive sensory-motor polyneuropathy is a key syndrome of the disease and it is a common reason for referral to neurologist. The paper presents data about POEMS-syndrome and own case reports with the analysis of disease features and results of examination.

During examination of 165 children aged 5 to 15 years (primarily identified during planned monitoring in Petrozavodsk children's institutions) with dysfunctional urination and encopresis without organic lesion of the central nervous system, autonomic dysfunction syndrome (ADS) was revealed. According to the results of urological examination, which was supplemented with the registration of spontaneous voiding rate and counting the radial pulse, overactive bladder syndrome and insufficient relaxation of the pelvic floor muscles during urination and defecation were detected; relationship between the number of heart rate (as a marker of sympathetic nervous system activity) and the effective volume was identified. It was revealed that the children with ADS in the presence of tachycardia show intermittent decrease of effective amounts of urination, and have residual urine. The standard course of treatment using colon hydrotherapy and biofeedback to activate cystic and obturator reflex caused a positive but short-term therapeutic effect; clinically and statistically significant increase in the effective volume of the bladder was not achieved, despite the reduction in residual urine volume. During the course of treatment using methods of biofeedback, bladder volume remained almost unchanged and tachycardia persisted, indicating the continued oppression of the sympathetic activity. The course of treatment using nootropic drug picamilon and alpha-adrenoblocker doxazosin with peripheral actions allowed to restore the reservoir and evacuation functions of the bladder, to achieve a regular bowel movement without encopresis. It was revealed that the combined dysfunction of pelvic organs occur in children with high activity of the sympathetic division of the ANS, which has a direct impact on the accumulation phase of voiding cycle and relaxation of the pelvic floor muscles.

We studied 67 children, aged 2-9 years, with cerebral palsy including 56 children with a spastic form. An electromyographic method was used for the development of optimal tactics of botulinum toxin type A injections in different clinical presentations of spasticity. The best clinical results were obtained in children with the following changes on EMG: 1) the tonic muscle activity in resting state was minimal (<10 microvolts) and had local or regional distribution; 2) the pathological synkinetic activity during voluntary movements was minimal (synergetic activity coefficient for shin muscles was less than 0.45); 3) the disturbance of interactions between synergistic and antagonistic muscles was moderate (reciprocity coefficient was not less than 0.4); 4) EMG amplitude in voluntary muscle contraction should not be less than 150 microvolts. This approach to the treatment allowed to reach higher levels on The Gross Motor Function Classification System in part of children.

Dorsalgia's is an actual medical and social problem. It gains prominent significance among railway workers, connected with railway communication. Pain syndromes among this group of patients have different complex pathogenetic mechanisms of the development. In a great number of cases it is usually seen the worsening of the condition in connection to concomitant anxiety and depression. There are also concomitant osteoporosis and autonomic trophical disturbances.

The authors present a review of literature focusing on state-of-art of surgical management of cervical spondylogenic myelopathy (CSM). Pathophysiology of CSM, evaluation and differential diagnosis are also described. Special attention is given to the value of neurophysiological aspects in pre- and postoperative examination.

Men aged over 40 years more commonly develop NK/T-cell lymphomas (NK/T-CL). The paper describes a case of NK/T-CL in a 20-year-old man. Despite the fact that the disease (nasal septum perforation, hard palate bone destruction, recurrent nasopharyngeal bleeding, considerable weight loss, and high erythrocyte sedimentation rate,) progressed rapidly for 5 months, the patient was found to be diagnosed as having Wegener' granulomatosis (WG). Repeated incisional biopsies showed massive necrotic changes with no clear histological verification of the diagnosis. The absence of lung and kidney lesions typical of WG, the lack of antineutrophil antibodies, and the detection of Epstein-Barr virus DNA in blood could presume NK/T-CL and confirm it by extended biopsy to have materials sufficient for morphological and immunomorphological studies. This observation shows that the disease may occur at a young age and rapidly progress; only early diagnosis can improve prognosis in patients with this type of lymphomas.

Small variations of electric impedance (bioimpedance) of human penis were examined in healthy volunteers and in patients with vascular erectile dysfunction (ED). The harmonic analysis revealed rhythmic oscillations of penile bioimpedance at frequencies corresponding to the heart and respiration rates and Mayer wave (0.1 Hz) and to multiple frequencies (harmonics) of the respiratory and cardiac oscillations. In normal penile bioimpedance spectrum, the Mayer and respiratory peaks were several times higher than the first cardiac (pulsatile) harmonic indicating neurogenic origin of rhythmic bioimpedance variations in the whole penis. The most of healthy individuals (78%) demonstrated the cardiac harmonics at the frequency range of 4-7 Hz that violated the monotone decrement of the pulsatile harmonic series suggesting the resonant character of oscillations of the penile arteries at this "near" frequency range. In contrast to stable 1-4 cardiac harmonics, the amplitudes of the near-range resonant harmonics could vary during few minutes suggesting a causal relation of the corresponding bioimpedance oscillations with the varying vascular tone in penile arteries. The most patients (89%) with vascular ED demonstrated not only the first 1-4 monotonically decrementing harmonics and the near-resonant ones, but also the stable cardiac harmonics at the "far" frequency range of 8-14 Hz that also disturbed the monotonic character of the cardiac harmonic series indicating the sclerotic alterations in regional arteries. In ED patients, insignificant decrease of the initial cardiac harmonics C1-C3 in comparison with the norm was accompanied by pronounced and significant decrease of the respiratory R1 and Mayer M1 peaks. The study showed that the far-frequency bioimpedance resonances at the range of 8-14 Hz and dramatic drop of Mayer and respiratory peaks are the diagnostic signs of vascular ED independent on the accompanying hormonal or neurogenic disorders.

The article analyses problems of diagnosis and treatment of neurogenic disorders of urination in the group of patients operated for prostatic pathology, the role of the conduction system of the corticospinal tract and conductive potential of perineal muscles in the above patients. Main standard electromyographic parameters were established by the data of examination of 7 controls--latency of the cortical and segmental evoked motor response, time of central motor conduction, amplitude of potentials of motor unities. Fifteen patients with prostatic diseases showed severe disorders of both corticospinal conduction and perineal muscular contraction. Patients with prostatic cancer or adenoma treated with different methods had denervation changes in pelvic inferior muscle in unaffected corticospinal conduction. Denervation changes after surgical treatment for prostatic cancer and delay of reinnervation, recovery of nervous control may be determined not only by the fact of operation but also by the course of the underling disease. Examination of the pelvic inferior muscles demonstrated that HIFU is a traumatic treatment of prostatic cancer because of extention of the physical impact beyond the prostate on muscular-nervous structures. These denervation muscular changes should be taken into consideration in assessment of the patient's condition and choice of treatment policy.

The aim of the study was to investigate the influence of duloxetine on clinical parameters and antinociceptive mechanisms in 46 patients with chronic migraine (CM). In addition to a clinical examination, we performed a neurophysiological investigation which included blink reflex (BR) and nociceptive flexion reflex (NFR) tests. From the beginning of the treatment with duloxetine (60 mg/d) to the third month of treatment, the number of days with headache decreased from 25,8+/-5,3 to 10,5+/-3,9 (p< or =0,001); the frequency of migraine attacks/month decreased from 11,3+/-3,8 to 6,8+/-2,5 (p< or =0,001); the amount of analgesic tablets used per month decreased from 46,6+/-14,7 to 8,5+/-10,6 (p< or =0,001). The reduction of the number of days with headache by more than 50% and more than 30% was noted in 50% and 57,5% of patients, respectively. The treatment with duloxetine resulted in the significant increase of the pain and NFR thresholds as well as in the normalization of the RIII threshold and its habituation in BR. These results confirmed the role of duloxetine in increasing of the noradrenergic and serotonergic activity of brain antinociceptive systems in patients with CM. The clinical effectiveness of duloxetine can be explained by its multilevel modulatory influence on the pathogenetic mechanisms of CM including the activity of antinociceptive systems of the brainstem and of brain nociceptive systems through the decrease of central sensitization.

The objective is to study the effect of dysport injections on the clinical and electromyographic changes in 35 patients (mean age 5,3+/-2,0 years) with spastic forms of cerebral palsy (26 with spastic diplegia, 9 with hemiparetic form) with equinus and equinovarus deformity. Depending on the clinical situation, dysport was injected in a total dose of 20-30 u per 1 kg of the body mass. Gastrocnemius muscles were injected more frequently than soleus and posterior tibial muscles. The treatment resulted in the significant reduction of spasticity on the Ashworth scale, decrease of equinus deformity, positive changes in the parameters of stepping on flat foot, independent standing and walking, the beginning of support period from the heel. During the arbitrary contraction, the amplitude of bioelectrical activity of target muscles of low extremities reduced, though not to the extent of the motor activity loss; the reciprocity coefficient decreased from 0,69+/-0,32 to 0,47+/-0,28 in patients with spastic diplegia and from 0,45+/-0,34 to 0,34+/-0,25 in patients with hemiparetic form. The effect of dysport was higher in hemiparetic form compared to spastic diplegia. The best results for spastic diplegia were revealed in patients with isolated spasticity without severe disturbances of reciprocal relations in shin muscles and pathological synkinesia.

The possibility of central and peripheral impairment of the acoustic analyser was studied in 18 patients with severe diphtheritic polyneuropathy (DP) using brainstem acoustic evoked potentials (BAEPs). The acoustic nerve impairment was found in 27.8%, the central abnormalities--in 44.4%. All the patients with CNS impairment suffered from chronic alcoholism. The data obtained have been compared to those of 26 patients with chronic alcoholism. In this group, peripheral polyneuropathy was confirmed in 76.9% cases; BAEPs revealed isolated involvement of the peripheral part of the acoustic nerve in 7.7% and CNS impairment was found in 84.6% patients. The results of the study suggest that diphtheritic toxin is not implicated in CNS lesions. Central changes found in the BAEPs analysis were related to chronic alcohol intake and did not aggravate diphtheria course.

A complex study of pathophysiological characteristics of corticospinal systems was performed in patients with amyotrophic sclerosis (ALS) by transcranial magnetic resonance stimulation (TMRS) and estimation of the levels of mediatory amino acids in the cerebrospinal fluid (CSF). There was a time course of changes in the excitability of cortical motor neurons (MNs) and in the functional status of the pyramidal tract as ALS progressed. The large cortical MNs were found to be afflicted just at early stages by further involving their axonal systems into the pathological process. As a result, mainly fine slowly conducting axons of MNs functioned at the later stages of the disease. Neurochemical changes correlated with the duration of the disease and were supposed to play an important role in the pathogenesis of ALS. Besides, a significant correlation revealed by TMRS between the pathology of the corticospinal tract and the cerebrospinal fluid levels of glutamate confirmed the role of glutamate as a the main neurotransmitter of this motor system. The results of the study also confirm the significance of excitotoxic mechanisms in central motor disorders in ALS.

A clinicomorphological study was conducted in 11 patients with severe forms of Guillain-Barré syndrome (GBS) at different periods of the disease. Five postmortem cases of GBS were investigated. In all the cases there was a multifocal loss of myelin in the peripheral nervous system with axon degeneration of various degree. Macrophages always took part in demyelination sometimes followed by lymphocytic infiltration. Ultrastructural investigation of nerve biopsies from 6 patients with GBS showed macrophage-associated demyelination with little or no lymphocytic infiltration. It is likely that axonal damage revealed in the biopsies and at the autopsies occurs as secondary consequence of demyelination.

The paper reports three cases of myositis. The findings at detailed electroneuromyographic, morphologic and ultrastructural tests were indicative of characteristic vacuole inclusions in the muscular fibers. Two patients had associated neuritic disorders diagnosed neurophysiologically and morphohistochemically. The neuritic component proved aggravating in the course of the disease. Diagnostic myographic and morphological criteria are analyzed which can distinguish myositis with inclusions from other muscular inflammatory disease.

Changes of the activity potentials of motor units and muscular fibres registered with the aid of needle electrodes are compared with the results of morphological examinations of biopsy specimens of 1,096 muscles taken from 137 patients with myasthenia, combinations of myasthenia with thymoma and polymyositis, as well as from patients with terminal polyneuropathy with the myasthenic syndrome. It has been shown that characteristic of myasthenia are differentiated changes of the motor unit activity potentials: in half of the muscles examined the parameters of those potentials were found to be normal, no polyphasic or protracted potentials were observed. In the patient with combinations of myasthenia with thymoma, polymyositis, and in terminal polyneuropathy with the myasthenic syndrome pronounced changes of all the activity potentials of the motor units were observed in the form of both a sharp shortening and a prolongation of their duration; a great number of polyphasic potentials was registered and spontaneous activity of various degree was observed. Morphological examinations of 55 biopsy specimens of the muscles of the same patients revealed a correlation between the degree of the dystrophic and atrophic changes of the muscular fibres and depth of the affection as determined on the basis of electromyographic findings.

The clinical data and findings of thorough electrophysiological and morphohistochemical examinations of the muscles of 13 patients with the myasthenic syndrome associated with terminal polyneuropathy are presented. Correlation of the clinical and electrophysiological data to the clinical manifestations of the disease and the magnitude of the block of the neuromuscular transmission disclosed a number of characteristic features of the clinical course of the disease (a predominantly oculodistal type of damage, a diminution or the absence of tendon and periosteal reflexes, the presence of atrophies of distal muscular groups) and of the EMG pattern (the presence of enlarged PDDE, an increase in residual latency, the inverse ratio of the decrement of electric and mechanical responses upon indirect stimulation of the muscle at a frequency of 3/sec) and in the histochemical picture (the presence of groupings of type I and II muscular fibrils, which are not characteristic of myasthenia). On the basis of the evidence obtained, a conclusion is drawn that the described syndrome is an independent clinical form rather than a myasthenia variant.

Patients with mitochondrial myopathy have been subjected to clinical, electromyographic, mechanographic, morphological and ultrastructural examination. The main syndromes involving the neuromuscular system in these patients have been considered. The authors draw attention to a generalized character of changes in clinically local lesions. The diagnostic value of electromyographic and morphological examinations has been compared. An analysis of the clinical picture and the results of electromyographic and morphological studies have suggested heterogeneity of the given clinical group of patients.

The density of muscle fibers in a motor unit (MU) was studied electromyographically with the aid of a microelectrode. Muscle biopsy specimens withdrawn from patients with different neuromuscular diseases were subjected to morphological and histochemical studies. During denervation-reinnervation processes, the motoneuron actively reconstitutes the structure of an innervated MU. Apart from branching in the central part, the motoneuron excludes from the innervation zone the muscle fibers located in the most remote areas in respect of the MU center.