Heterotrimeric G proteins are immediate transducers of G protein-coupled receptors—the biggest receptor family in metazoans—and play innumerate functions in health and disease. A set of de novo point mutations in GNAO1 and GNAI1, the genes encoding the α-subunits (Gαo and Gαi1, respectively) of the heterotrimeric G proteins, have been described to cause pediatric encephalopathies represented by epileptic seizures, movement disorders, developmental delay, intellectual disability, and signs of neurodegeneration. Among such mutations, the Gln52Pro substitutions have been previously identified in GNAO1 and GNAI1. Here, we describe the case of an infant with another mutation in the same site, Gln52Arg. The patient manifested epileptic and movement disorders and a developmental delay, at the onset of 1.5 weeks after birth. We have analyzed biochemical and cellular properties of the three types of dominant pathogenic mutants in the Gln52 position described so far: Gαo[Gln52Pro], Gαi1[Gln52Pro], and the novel Gαo[Gln52Arg]. At the biochemical level, the three mutant proteins are deficient in binding and hydrolyzing GTP, which is the fundamental function of the healthy G proteins. At the cellular level, the mutants are defective in the interaction with partner proteins recognizing either the GDP-loaded or the GTP-loaded forms of Gαo. Further, of the two intracellular sites of Gαo localization, plasma membrane and Golgi, the former is strongly reduced for the mutant proteins. We conclude that the point mutations at Gln52 inactivate the Gαo and Gαi1 proteins leading to aberrant intracellular localization and partner protein interactions. These features likely lie at the core of the molecular etiology of pediatric encephalopathies associated with the codon 52 mutations in GNAO1/GNAI1.

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The objective of the present study was to evaluate the state of the nasal cavity and paranasal sinuses in the children presenting with congenital cleft of upper lip and palate (CLP). A total of 23 children at the age from 9 to 16 years who had undergone the surgical treatment of the above malformations during the first year of life were examined. The comprehensive study including routine ENT examination, endoscopic examination of the nasal cavity and nasopharynx, and computed tomography has demonstrated that 50% of the patients with congenital cleft of upper lift and palate suffered the deflection of the nasal septum associated with hyperplasia of inferior turbinal bones. The children with congenital cleft of upper lip and palate were characterized by enhanced pneumatization of the anterior end of the middle turbinate despite the absence of well apparent differences between their paranasal sinuses and those of the healthy children, with the degree of pneumatization being consistent with the patient's age in both groups.

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Background. In the pathogenesis of cerebral palsy, the pathology of the proprioceptive modality plays an important role. Proprioceptive correction is an effective method for habilitation of children suffering from this disease. "Stimulation of the feet" is one of the methods of proprioceptive correction. In the process of treatment, pressure is applied to the receptor zones of the feet with pneumatic elements. The pressure is produced in walking mode and simulates the effect of the step on the foot. Objective: the rehabilitation treatment of children with the consequences of perinatal damage to the central nervous system and various forms of cerebral palsy.Materials and methods. The results of the rehabilitation treatment of 51 children with the consequences of perinatal damage to the central nervous system in 2 age groups: from 7 months to 1 year and from 1 year to 2 years are described. The average age of children was 1.8 ± 0.054 years, standard deviation 0.385. Among them, 27 (52.9 %) were boys, 24 (47.1 %) girls. The children had various motor dysfunctions. Children with a predominance of spasticity in the muscles of the lower extremities were 70.6 %, children with a predominance of reduced tone in the muscles of the lower extremities were 29.4 %. Rehabilitation treatment was carried out from the simulator of the base load "Сorvit". The course of basic stimulation was 10 procedures lasting from 10 to 15 minutes. The mode of stimulation was selected individually as in the classroom for physiotherapy. The duration and intensity of the pressure on the foot were selected.Results. As a result of treatment, positive dynamics of motor functions was noted. It was expressed in the normalization of muscle tone and with its decrease, and with an increase. The effect of tonic reflexes decreased. In the older group, normalization of the step structure was revealed. A reliable positive dynamics of speech and mental development was recorded. In children aged 7 months to a year with severe spastic paresis, it was statistically significant (p <0.05).Conclusions. Support stimulation is an effective and safe method of physical habilitation of children with the effects of perinatal brain lesions and cerebral palsy.