R. F. Rakhmaeva
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View article: Sarcopenic obesity in children with cerebral palsy
Sarcopenic obesity in children with cerebral palsy Open
Children with cerebral palsy have a number of risk factors for the development of sarcopenic obesity: low motor activity, limited joint mobility, eating disorders, deficiency of actual nutrition, dysphagia, taking medications. The aim of t…
View article: Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report
Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report Open
Background Acid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is …
View article: Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy
Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy Open
Background . Niemann–Pick disease type C is a multisystem orphan disease caused by mutations in the NPC1 and NPC2 genes and characterized by clinical polymorphism. The difficulties of managing such patients lie in the diagnosis and differe…
View article: Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy
Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy Open
The article presents a clinical case of a child with a perinatal form of Niemann–Pick disease type C. The clinical manifestations were cholestasis syndrome, cytolysis, hepatosplenomegaly, muscle hypotension. Differential diagnostics was pe…
View article: Sarcopenic obesity in a child with type IXa glycogenosis in combination with eosinophilic esophagitis and Legg–Calvé–Perthes disease
Sarcopenic obesity in a child with type IXa glycogenosis in combination with eosinophilic esophagitis and Legg–Calvé–Perthes disease Open
The article describes a clinical example of the development of sarcopenic obesity in a child with type IXa glycogen disease. The reasons for the development of sarcopenic obesity were, on the one hand, the lack of control over the child’s …
View article: Transcranial Magnetic Stimulation Application in Children with Severe Traumatic Brain Injury: a Randomized Prospective Study
Transcranial Magnetic Stimulation Application in Children with Severe Traumatic Brain Injury: a Randomized Prospective Study Open
INTRODUCTION. Today, severe traumatic brain injury (STBI) poses a serious threat to the life and health of affected children, which requires long-term expensive treatment and long-term rehabilitation. Improving the diagnosis, resuscitation…
View article: Application of the International classification of functioning, disability and health in medical rehabilitation of children with severe traumatic brain injury
Application of the International classification of functioning, disability and health in medical rehabilitation of children with severe traumatic brain injury Open
BACKGROUND: The problem of rehabilitation of patients with severe traumatic brain injury has been and remains very important and relevant for both adults and children. Patients with severe traumatic brain injury often develop severe physic…
View article: Assessment of global, segmental longitudinal deformation of the left ventricle and endothelial function in children with family hypercholesterolemia
Assessment of global, segmental longitudinal deformation of the left ventricle and endothelial function in children with family hypercholesterolemia Open
Background . Familial hypercholesterolemia (FHC) is accompanied by a significant increase in the level of low-density lipoprotein cholesterol in the blood . The relevance of early diagnosis and treatment is due to the risk of premature dev…
View article: Laboratory indicators of nutritional status in children with cerebral palsy
Laboratory indicators of nutritional status in children with cerebral palsy Open
Children with cerebral palsy are at high risk of developing nutritional disorders: malnutrition, osteopenia, micronutrient deficiency. This is facilitated by motor disorders, restriction of actual nutrition, the presence of concomitant dru…
View article: Effectiveness of nutritional status correction in children with cerebral palsy
Effectiveness of nutritional status correction in children with cerebral palsy Open
The frequency of underweight in children with cerebral palsy is about 60–70%. A benefit of nutritional support in children with cerebral palsy are underestimated. The use of nutritional support during active physical rehabilitation can hav…
View article: Evaluation of anthropometric parameters and body composition in children with cerebral palsy
Evaluation of anthropometric parameters and body composition in children with cerebral palsy Open
Children with cerebral palsy (CP) often develop nutritional disorders, their incidence reaches 80% (according to the literature data). Purpose. To analyze the frequency of nutritional disorders and features of nutritional status in childre…
View article: GP182 Anthropometric indicators and body composition in children with cerebral palsy
GP182 Anthropometric indicators and body composition in children with cerebral palsy Open
Aim and objectives of the study Nutritional disorders are frequent in children with cerebral palsy (CP). The main methods for assessing the nutritional status of children with CP are the accurate interpretation of anthropometric indicators…