Vol 9, No 2 (2015)

Resting-state functional magnetic resonance imaging (rs-fMRI) enables evaluation of low-frequency oscillations (0.01–0.1 Hz) of the BOLD-signal, which are related to changes in the hemodynamics parameters, thereby making possible to determine indirectly the spontaneous neuronal activity of various areas of the brain at rest . We conducted an rs-fMRI study in groups of healthy volunteers and patients with Parkinson’s disease (PD). Out of the spectrum of resting neural networks of the brain, the brain’s default mode network (DMN) was selected, and changes in the neuronal activity pattern of the network in PD patients were evaluated. Compared to the norm, PD was found to be characterized by a decrease in the activity of the right inferior parietal lobe (i.e. in the area incorporated into DMN and involved in visual-spatial perception) and, on the contrary, an increase in the spontaneous neuronal activity of DMN in the medial segments of the right superior frontal gyrus, right and left angular gyri, and anterosuperior and posteroinferior parts of the left and right precuneus. The detected changes in the neuronal activity, regarded as a manifestation of the neuroplasticity phenomenon,may potentially serve as biomarkers of a neurodegenerative process in PD.

Clinical and morphological correlations in the group of cortical dysplasias accompanied by the development of an epileptic syndrome were performed based on 50 autopsies. The diagnosis of microcephaly was confirmed in 40 patients who died; polymicrogyria was detected in 6 cases; holoprosencephaly was detected in 4 cases. Analysis of the consequences of paroxysmal neurological disorders revealed that the West syndrome in the first year of life dominated in 32% of died patients with cortical dysplasias, myoclonic epilepsy of infancy in 4% of the cases, and the Ohtahara syndrome in 4% of the cases. The severity of epilepsy progression was determined by the onset age and the structure of epileptic seizures. Motor and cognitive disorders of varying severity were noted in all patients with cortical dysplasias. Associated developmental anomalies of the internal organs were found in 100% of the cases. Microcephaly was combined with other congenital brain anomalies in 62.5% of the cases, while polymicrogyria and holoprosencephaly in 100% of the cases. A histological examination of the brain of dead patients with microcephaly, polymicrogyria, and holoprosencephaly revealed a number of common features, including a reduction in the number and density of neurons, abnormalities of the cortical cytoarchitecture, and the presence of large dysmorphic neurons. These findings confirm the fact that these forms of pathology belong to the group of cortical dysplasias.

Dystonic hyperkinesias in children of early childhood may be involved in the structure of many syndromes that have different etiological factors, prognosis, and treatment. This review presents various clinical types of dystonias: benign idiopathic forms of dystonia with onset in the first year of life, dystonic syndromes associated with residual damage to the nervous system, hereditary idiopathic dystonias, symptomatic dystonias, and also some similar conditions. Diagnosing of dystonia in children requires the use of a wide range of examinations, including neuroimaging, continuous video EEG monitoring, and genetic studies. The differential diagnosis of dystonias in children is carried out with different paroxysmal conditions of childhood that can be of epileptic and non-epileptic nature.

Percutaneous endoscopic lumbar discectomy (PELD) is a modern endoscopic technology that enables removal of herniated discs of the lumbar spine, effective treatment of compressive radicular pain syndrome, minimization of a surgical trauma, and the shortest period of patient hospitalization, temporary disability, and rehabilitation. The article analyzes the outcomes of surgical treatment of 20 patients with acute compressive radicular pain syndrome using the PELD technology, demonstrates the obvious advantages of this type of operative intervention, and presents a typical clinical example of treatment outcomes.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease associated with the expansion of trinucleotide CTG repeats in the dystrophia myotonica protein kinase (DMPK) gene. DM1 is clinically manifested by a combination of myotonia, progressive atrophy of skeletal muscles, and the multisystemic character of the disorder, severity of which correlates with the CTG tract length. DM1 is characterized by anticipation that is manifested in the worsening and more early onset of the disease in each succeeding generation, especially when inherited from clinically affected mothers. Using clinical observation of a family with two cases of advansed DM1 forms as an example, it was demonstrated that clinical, electromyographic, and molecular genetic examinations of all first-degree relatives (parents, siblings, children) are required for the correct prognosis and genetic counseling.