Introduction: Preeclampsia is a severe multifactorial complication of pregnancy. Studies found associations between folate metabolism genes’ polymorphisms and preeclampsia. However, investigations in this field are limited among Asian populations. Thus, the study’s aim was to evaluate the prevalence of methionine synthase (MTR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) genes’ polymorphisms among ethnic Kazakh women with preeclampsia. Methods: This was a retrospective study involving 4246 patients’ data for the period of 2018–2022. Identification of MTR, MTRR, and MTHFR genes’ polymorphism was performed via PR-PCR. Peripheral blood samples were obtained for the analyses. In total, 4246 patients’ data of Kazakh ethnicity with preeclampsia at >20 weeks gestational age who had undergone an investigation to identify polymorphisms of the folate metabolism pathway genes for the period of 5 years were included in this study. Results: The most common and prevalent mutation was the MTRR A66G polymorphism: 24.5% of all tested patients with preeclampsia had the MTRR A66G polymorphism. It was highest among the 35–39 age group participants. The second most prevalent was the MTHFR C677T polymorphism: 9% of women with preeclampsia had the MTHFR C677T mutation. It was highest among women aged 30–34. There was a rare association of the MTR A2756G mutation with preeclampsia among the study participants. Conclusions: The identified levels of MTRR A66G and MTHFR C677T polymorphisms among the study participants suggest the importance of evaluating MTRR and MTHFR polymorphisms in women with preeclampsia. The role of the MTR A2756G polymorphism in the development of preeclampsia needs to be further investigated.

This study aimed to evaluate the effectiveness of early intervention (EI) for infants at high risk for cerebral palsy (CP), particularly in the context of their neurological development. The study was conducted at the Regional Perinatal Center in Aktobe, Kazakhstan, and included 69 preterm infants with adverse neonatal periods. The infants were divided into two groups: the first group (n=50) began EI at 42 weeks postmenstrual age, while the second group (n=19) started at 52 weeks. Both groups underwent general movements assessment (GMA) and motor activity monitoring using general movement optimality score (GMOS). Results showed that infants receiving EI earlier demonstrated significant improvements in movement quality and a reduced risk of adverse neurological outcomes compared to the control group. The findings highlight the importance of early detection and intervention, as well as the need for implementing early diagnostic programs for infants at risk.

The well-being of children is crucial for a nation’s demographic, economic, and intellectual prospects. Developing countries face an increasing number of children with disabilities, primarily attributed to congenital developmental defects, neurological disorders, and other health issues. Neurological disorders pose significant challenges to realizing the full potential of children and society. Early intervention is essential for improving functional outcomes in infants with neurological impairments. General Movements (GM) assessment, a predictor of subsequent neurological outcomes, plays a vital role in early detection. However, its widespread implementation in developing countries is limited. This article explores the history of GM assessment, its current state in developing countries, and the potential for mobile applications to revolutionize early assessments and interventions in developing countries.

This research aims to study the prognostic role of serum S100 as a predictor of mortality in vascular and traumatic brain injuries.This prospective cohort study involved 219 patients. In the blood ...

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy, often leading to severe disability or early mortality. This study aimed to estimate the prevalence of pediatric SMA in Kazakhstan and to evaluate outcomes of the national disease-modifying treatment program with nusinersen. Data from all patients registered in the national SMA registry were analyzed. SMA prevalence was calculated per 100,000 pediatric population. Survival was assessed using Kaplan-Meier analysis stratified by SMA type, and treatment outcomes were evaluated in relation to clinical characteristics and timing of therapy initiation. The national SMA prevalence was 2.9 cases per 100,000 pediatric population. Survival differed significantly across SMA types, with all recorded deaths occurring in patients with SMA type 1, while near-complete survival was observed in types 2 and 3. Kaplan-Meier analysis demonstrated a significantly reduced survival probability in SMA type 1 compared to other types (log-rank p < 0.001). Substantial delays in diagnosis and treatment initiation were observed, with a mean delay of 18 months. Earlier initiation of therapy was associated with more favorable outcomes. SMA prevalence in Kazakhstan is likely underestimated due to the absence of a national screening program. Survival outcomes vary significantly by SMA type, highlighting the importance of early diagnosis and timely treatment initiation, particularly in severe phenotypes. These findings may inform optimization of national SMA care strategies.

(COVID-19). In addition to systemic and respiratory symptoms, SARS-CoV-2 causes neurological disorders, as it is a neurotropic virus. Many scientists assume that SARS-CoV-2 can enter the nervous system through the functional receptor of angiotensin-converting enzyme 2, which is present in glial cells, neurons, skeletal muscles, and other organs. Neurological complications are manifested by damage to the central nervous system, peripheral nervous system, and cranial nerves, as well as by mental disorders. Mental illnesses develop due to neuroinflammation and neuronal death after brain infection with SARS-CoV-2.The article describes a clinical case of a 63-year-old man with the co-occurring novel coronavirus infection and obvious mental disorder who has never had any mental illnesses before. The given clinical example demonstrates the importance of studying the cause-and-effect relationship between COVID-19 and mental illness. In the mediumand long-term perspective, COVID-19 is expected to result in mental health disorders during COVID-19 recovery. Besides, an increase in the number of patients with mental disorders who were mentally healthy before COVID-19 infection is also expected.