Background. After-discharge (AD) activity is a pattern that differs from background corticography, represented by rhythmic stereotypical slow waves and/or repetitive spike discharges with ≥1 Hz frequency, recorded after cessation of electrical stimulation and lasting for more than 2 seconds. Despite the accumulated experience in the field of intraoperative neuromonitoring, there is no unified protocol for high-frequency stimulation of cortical functional areas (FAs) upon the AD event.Objective: to demonstrate a need to change the intraoperative FAs mapping protocol in patients with brain tumor on awakening in cases of AD recording.Material and methods. Two clinical cases of awake surgical functional mapping followed by resection of the brain tumor are presented. Multimodal monitoring included high-frequency stimulation according to the approved intrahospital protocol with maximum stimulation force of auditory-speech zones of 2.5 mA, electrocorticography, and subcortical dynamic mapping.Results. In the first case, AD was registered while FAs mapping in a patient with a history of one epileptic seizure, upon reaching the maximum stimulation force of 2.5 mA, that was replaced by recording focal epileptiform activity with the following evolution to ictal generalized event and development of intraoperative convulsive seizure. In the second patient with a history of recurrent epileptic seizures, AD with spatiotemporal evolution of the pattern development of clinical ictal event was registered with stimulation at 2.5 mA. In both cases, the appearance of AD required to change mapping protocol with a stepwise decrease in stimulus strength to obtain cortical FAs data.Conclusion. Registration of AD is the basis for changing the protocol of high-frequency cortical stimulation in surgical treatment of brain tumor FAs.
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develop respiratory and cardiac disorders. The core elements of good care standards are early diagnosis, prevention and treatment of osteoporosis, daily physical therapy, regular rehabilitation, glucocorticosteroids, and control of heart and lung function. The clinical effect of new targeted pathogenetic therapies for Duchenne muscular dystrophy, restoring synthesis of full or truncated dystrophin, depend on their appropriate combination with existing standards of care.
This paper presents interdisciplinary consensus on the use of protocols of high-intensity magnetic stimulation for the treatment of pelvic floor muscles dysfunction with anal incontinence in Russia.AIM: to highlight the discussion and the decision-making on the basis of an interdisciplinary consensus on the use of a new algorithm of peripheral and transcranial magnetic stimulation in the treatment of pelvic floor muscles dysfunction with the clinic of anal incontinence.RESULTS: the adoption of this consensus can serve as a basis for further research of this problem and optimize the results of treatment of patients with pelvic floor muscle dysfunction with anal incontinence. The data may be interesting for a wide range of medical specialists: general practitioners, gastroenterologists, coloproctologists, surgeons, neurosurgeons, gynecologists, urologists — anyone who encounter with manifestations of this disorder in a routine practice and chooses diagnostic and treatment options.CONCLUSION: protocols for the treatment of anal incontinence using high-intensity magnetic stimulation aimed at improving the quality of treatment of patients with anal incontinence are based on the Russian experience of using the methods discussed and the analysis of the results obtained are validated.
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and cardiac functions. At various stages of the disease, different methods of care and treatment of patients with DMD are used. The clinical effect of new methods of DMD target therapy may depend on the stage of development of the disease (ambulatory or non‑ambulatory). To date, there are no unified criteria for assessing the status of a patient in terms ambulatory. In clinical trials and real clinical practice, different approaches are used to assess the patient’s status. However, the conclusion about the functional capabilities is critical for patients with DMD as approaches in management of patients in ambulatory and non‑ambulatory stages differ significantly. This necessitates expert consensus to achieve consistency and avoid any of discrepancies on that issue.The paper reviews the available published data on the concepts of “ambulatory” and “non‑ambulatory” used in clinical trials, real clinical practice, international standards and recommendations. As a conclusion of this analysis, it is proposed in real clinical practice to interpret “ambulation” in DMD patients as ability to walk without the use of assistive devices and without specifying the distance and time, and “non‑ambulation” as condition in which the patient is forced to constantly use a wheelchair both indoors and outdoors.
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective SMN1 gene with its functional copy. It leads to normalization of survival motor neuron protein (SMN) production. Objective. The aim of the study is to evaluate efficacy, safety, and causes of different responses to therapy after single administration of onasemnogene abeparvovec in 5 patients with 5q SMA (types I and II) comparing the baseline status with the results of continued monitoring in real clinical practice in Russian Federation. Methods. Interim results of continued follow-up of children with 5q SMA with 2–3 copies of the SMN2 gene are presented: 2 boys and 1 girl with type I who received single dose of onasemnogene abeparvovec at 4 and 7 months of age; and 2 girls with type II who received therapy at 11 and 16 months of age. Results. Short-term controlled fever was observed in 4 out of 5 patients during first 2 weeks after viral vector therapy administration (max in patient 5 — up to 38.5 ° C). All 5 children had transaminases increase, 1 patient — significant transaminases increase during the sensitisation period (> 10 from upper normal level (UNL)), 1 patient — delayed significant transaminases increase (> 20 UNL), 1 patient — transaminases increase (> 3 UNL) after discontinuation of longterm therapy with glucocorticosteroids (according to prescribing information). All patients had shown positive and sustained response to therapy over time at motor status assessment via CHOP INTEND / HFMSE scales. The more significant response was observed in patients with less aggressive baseline 5q SMA type II with 3 copies of the SMN2 gene. Conclusion. Onasemnogene abeparvovec is relatively safe medication for management of children with 5q SMA. Thus, the development of adverse events and their mechanisms should be further studied, as well as long-term follow-up of recipients is required to gather knowledge on this medication effects on human body.
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