A5012530059- Peripheral Neuropathies and Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Muscle activation and electromyography studies
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
- Neuroscience and Neural Engineering
- Botulinum Toxin and Related Neurological Disorders
- Neurological disorders and treatments
- Ion channel regulation and function
- Multiple Sclerosis Research Studies
- Nerve injury and regeneration
- Parkinson's Disease Mechanisms and Treatments
- Force Microscopy Techniques and Applications
- Neurogenetic and Muscular Disorders Research
- Pain Mechanisms and Treatments
- Amino Acid Enzymes and Metabolism
- Diverse Scientific Research in Ukraine
- Polyomavirus and related diseases
- Alzheimer's disease research and treatments
- Mechanical and Optical Resonators
- Neuroendocrine Tumor Research Advances
- Genetic Neurodegenerative Diseases
City Clinical Hospital
2023-2024
University Medical Center Utrecht
2015-2022
Utrecht University
2019-2022
Kyiv National University of Technologies and Design
2021
Hersenstichting
2018
Research Institute of General Pathology and Pathophysiology, the Russian Academy of Medical Sciences
2015
Increased excitability of motor neurons in patients with amyotrophic lateral sclerosis (ALS) may be a relevant factor leading to neuron damage. This randomized, double‐blind, three‐way crossover, placebo‐controlled study evaluated peripheral nerve testing as biomarker hyperexcitability and assessed the effects riluzole retigabine 18 ALS. We performed at baseline, twice after participants had received single dose either 100 mg riluzole, 300 retigabine, or placebo. Between‐ within‐day...
ABSTRACT Introduction In some peripheral nervous system disorders, cold induces symptoms of muscle weakness without loss sensation. To understand this selective effect on motor function, it is first essential to delineate the effects cooling in and sensory axons healthy subjects. Methods 17 volunteers, we performed excitability clinical tests median nerve at 37°C 20°C. Clinical consisted assessing thenar strength, 2‐point discrimination, joint position sense third finger. Results...
The aim of this study was to find the best method warming median nerve before excitability testing a standard temperature.In 5 healthy subjects, forearm and hand were warmed for 1 h 37°C by infrared lamp, water blanket, or bath. Recordings performed during every 10 min. Excitability indices fitted exponential relations, thereby calculating time needed reach 95% their asymptotic end value.Distal motor latency, refractory period, superexcitability at ms changed exponentially with time. Warming...
Altered motor neuron excitability in patients with amyotrophic lateral sclerosis (ALS) has been suggested to be an early pathophysiological mechanism associated death. Compounds that affect membrane may therefore have disease-modifying effects. Through which mechanism(s), these compounds modulate is mostly provided by preclinical studies, yet remains challenging verify clinical studies. Here, we investigated how retigabine affects human myelinated axons applying computational modeling...
Progressive axonal loss in multifocal motor neuropathy (MMN) is often assessed with nerve conduction studies (NCS), by recording maximum compound muscle action potentials (CMAPs). However, reinnervation maintains the CMAP amplitude until a significant portion of unit (MU) pool lost. Therefore, we performed more informative scans to study MU characteristics large cohort patients MMN.We derived (CMAPmax ), an number estimate (MUNE), and largest stimulus current required elicit 5%, 50%, 95%...
Late-onset Pompe-disease (LOPD) is an adult form of the glycogenosis type II. The age onset ranges from 1 till 75 y.o. and older. The diagnosis LOPD based on presence trunk limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation creatine kinase, dry blood spot test enzyme activity and DNA-analysis GAA-gene. Early recognition beginning replacement therapy important in preventing severe motor deficit, patient...
Нервно-мышечные Б О Л Е З Н И Neuromuscular DISEASES Клинические рекомендации по оказанию медицинской помощи пациентам с болезнью Помпе Авторы: С. Никитин, д.м.н., Региональная общественная организация «Общество специалистов нервно-мышечным болезням» И. Куцев, ФГБНУ «Медико-генетический научный центр» Е. Н. Басаргина, ФГАУ «Научный центр здоровья детей» Минздрава России, Научно-исследовательский институт педиатрии В. Михайлова, ФГБУ «Российская детская клиническая больница» России Ю....
Immune-mediated neuropathies affect myelinated axons, resulting in conduction slowing or block that may motor and sensory axons differently. The underlying mechanisms of these are not well understood. Using a axon model, we studied the impact perinodal changes on conduction. We extended longitudinal model (41 nodes Ranvier) with biophysical properties unique to human axons. simulated effects temperature axonal diameter strength-duration properties. then impaired nodal sodium channel...
Motor neuron disease with isolated or predominant lesion of the lower motor at one level pyramidal tract is a rare diagnostic finding. In article, we analyze case patient asymmetric inferior cervical level: clinical manifestations, results additional studies and dynamic observation patient. Special attention paid to MRI picture changes in tracts region, which have been called «snake eyes» literature, impact this finding on diagnosis prognosis disease.
The classifi cation of Pompe disease, an autosomal recessive disorder resulting from a defi ciency acid α-glucosidase (GAA, or maltase), includes two main forms -infantile-and late-onset glycogen storage disease type II (GSD II).Despite the age onset and different life prognosis, is single continuum with variable rates progression ages onset.The form (LOPD) well-known milder GSD II.A 66-years-old man diffi culties climbing stairs walking (6MWT less than 10 m), breathing problems,...
Pompe disease (PD) is a rare autosomal recessive muscle lysosomal glycogenosis caused by deficiency of acid-α-glucosidase. There are two main forms the disease: aggressive infantile PD started within first year life with severe enzyme and multiorgan involvement, late onset (LOPD) progressive signs symptoms including predominant proximal, axial weakness respiratory insufficiency at any time from 1 till 75 years older. Usually due to physician's unawareness, most adults diagnosed great delay....
Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders peripheral nervous system internal organs. One rarest mutations tyrosine substitution for cysteine in position 114 (Tyr114Cys). described characteristics ATTR discordant phenotype monozygotic twins. We present case Cys Russian family with pair twins ATTR.
The study is devoted to defining the basic principles of formation style direction "unisex" as a design practice fashion design; formulation generalized image-design characteristics this for development costume collections relevant product mass consumption. Methodology research based on comprehensive approach identifying and artistic-compositional properties collection development, in particular methods socio-cultural analysis, historical logical system-structural, comparative, compositional...
Background Discordant course of the disease in monozygotic (MZ) twins is known to be characteristic for familial amyloidotic polyneuropathy (FAP). Existing cases FAP MZ refer amyloidosis due mutant transthyretin (TTR) Val30Met gene. We present a case pair associated with substitution tyrosine cysteine at position 114 TTR gene Russian kindered. Until now Cys has only been described one Japanese and Dutch family. Though none them were present.