Background: Duchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene, one of the most significant and most mutation-prone genes in the human genome. Although global mutation registries are well developed, genetic data from Central Asian populations remain extremely limited, leaving essential gaps in regional epidemiology and in the understanding of genotype–phenotype patterns. Methods: We conducted a retrospective analysis of patients with genetically confirmed dystrophinopathy in Kazakhstan. Variants were identified using multiplex ligation-dependent probe amplification (MLPA) for exon-level copy number alterations and next-generation sequencing (NGS) with Sanger confirmation for sequence-level changes. All variants were classified under ACMG guidelines. Statistical modelling incorporated mutation-class grouping, exon-hotspot mapping, reading-frame status, CPK stratification, chi-squared association testing, Spearman correlations, Kaplan–Meier ambulation survival curves, and multivariable logistic and Cox regression. Results: multi-exon deletions were the predominant mutation class, with a marked concentration within the canonical hotspot spanning exons 44–55. Recurrent deletions affecting exons 46–50 and 45–50 appeared in several unrelated patients. NGS confirmed severe protein-truncating variants, including p. Lys1049* and p. Ser861Ilefs*7. Phenotypic severity followed a consistent hierarchy: hotspot-associated deletions and early truncating variants showed the earliest loss of ambulation, whereas splice-site variants and duplications demonstrated the mildest courses. CPK levels correlated with the extent of genomic involvement, though extreme elevations did not consistently predict early functional decline. Regression models identified hotspot localization and out-of-frame effect as independent predictors of ambulation loss. Conclusions: This study provides the first statistically modelled characterisation of DMD gene mutations in Kazakhstan. While the mutational landscape largely mirrors global patterns, notable variability in clinical severity suggests the presence of population-specific modifiers. Integrating comprehensive molecular diagnostics with statistical-genetics approaches enhances prognostic accuracy and supports the development of mutation-targeted therapeutic strategies in Central Asia.

The persistent evolution of SARS-CoV-2 necessitates novel antiviral strategies. This study evaluated the anti-HIV prodrugs tenofovir disoproxil fumarate (TDF) and tenofovir alafenamide (TAF) for repurposing against SARS-CoV-2, assessing key pharmacological indices (CC₅₀, EC₅₀, cytostatic effect, and therapeutic window). In vitro screening in Vero E6 cells measured cytotoxicity (via CCK-8/MTT assays) and antiviral activity against Kazakh B.1 and Wuhan strains. TDF (50 µg/mL) reduced high viral loads (MOI 2) by ~2 log₁₀ (100% inhibition), with minimal cytotoxicity (≥75% viability). TAF achieved near-complete suppression (100% inhibition) at 50 µg/mL, exhibiting dose-dependent inhibition (68–100%) at lower viral loads (MOI 0.01). Both prodrugs showed enhanced antiviral activity with prolonged exposure (96 h). Synergy assessments demonstrated favourable combination indices (CI < 1). Electron microscopy confirmed virion integrity post-treatment. These findings highlight TDF and TAF as promising candidates against SARS-CoV-2, with particular potential for targeting lymphoid reservoirs—sites implicated in persistent viral reservoirs that may contribute to long COVID pathogenesis. Further clinical validation is warranted.

Background: Meat adulteration, particularly the undeclared addition of pork, is a critical food fraud and religious compliance concern in Muslim-majority countries like Kazakhstan. This study determined the prevalence of undeclared porcine DNA in processed meat products and evaluated the reliability of Halal certification. Methods: A total of 195 non-pork-labelled samples collected across Kazakhstan in 2024–2025 were screened using species-specific quantitative PCR (qPCR). A Cycle Threshold (Ct) cutoff of 35 was applied to differentiate high target DNA concentrations from trace cross-contamination. Results: Undeclared porcine DNA was detected in 57 samples (29.2%). Of these, 48 (24.6%) yielded Ct values below 35, indicating high target DNA concentrations, while 9 (4.6%) had Ct values of 35 or above, suggesting trace cross-contamination. Notably, the detection rate in Halal-certified products (29.2%) was statistically identical to that of non-certified products (p = 1). Conclusions: These results reveal a substantial prevalence of undeclared porcine DNA in Kazakhstan’s processed meats and demonstrate that current voluntary Halal labelling provides no assurance against pork contamination. This underscores the urgent need for routine molecular surveillance and strict hygiene control protocols.

During the COVID-19 pandemic, vaccination in the Republic of Kazakhstan utilized the vaccine SinoVac-CoronaVac (China), which contains a chemically inactivated form of the SARS-CoV-2 virus and an adjuvant to stimulate immunity. A retrospective analysis was conducted on the medical history and observation of a patient, T., born in 1989, who developed overlap syndrome, rheumatoid arthritis, and systemic lupus erythematosus (SLE) after receiving the SinoVac-CoronaVac vaccine. Blood analysis revealed leukopenia (2.8 × 10⁹), thrombocytopenia (104 units/µL), hypochromic anemia (hemoglobin 87 g/L), increased ESR, elevated rheumatoid factor (13.9), increased CRP (70.4), and elevated anti-streptolysin O (218 IU/mL). Antibodies to nuclear antigens (ANA) were also detected (32 units). The patient was treated with hormones, non-steroidal anti-inflammatory drugs, and rituximab. This case suggests that COVID-19 vaccination with the SinoVac-CoronaVac vaccine activated the immune system and acted as a trigger for the development of autoimmune overlap syndrome. Recognizing the possibility of autoimmune complications enables better patient monitoring and care post-vaccination. Во время пандемии COVID-19 в Республике Казахстан для вакцинации использовалась вакцина SinoVac-CoronaVac (Китай), содержащая химически инактивированную форму вируса SARS-CoV-2 и адъювант для стимуляции иммунитета. Был проведен ретроспективный анализ истории болезни и наблюдения пациента Т., 1989 года рождения, у которого после вакцинации препаратом SinoVac-CoronaVac развился оверлап-синдром, ревматоидный артрит и системная красная волчанка (СКВ). Анализ крови выявил лейкопению (2,8 × 10⁹), тромбоцитопению (104 ед/мкл), гипохромную анемию (гемоглобин 87 г/л), повышенную СОЭ, увеличенный ревматоидный фактор (13,9), повышенный уровень С-реактивного белка (70,4) и повышенный антистрептолизин О (218 МЕ/мл). Также были обнаружены антитела к ядерным антигенам (ANA) (32 единицы). Пациенту проводилось лечение гормонами, нестероидными противовоспалительными препаратами и ритуксимабом. Этот случай позволяет предположить, что вакцинация препаратом SinoVac-CoronaVac активировала иммунную систему и стала триггером развития аутоиммунного оверлап-синдрома. Анализ данного клинического случая подчеркивает возможные побочные эффекты после вакцинации против COVID-19. Понимание этих рисков имеет ключевое значение для улучшения мониторинга и ухода за пациентами после вакцинации. Пандемия кезінде Қазақстан Республикасында вакцинация үшін SARS-CoV-2 вирусының химиялық инактивацияланған SinoVac-CoronaVac (Қытай) вакцинасы қолданылды. 1989 жылы туған Т. есімді науқастың медициналық тарихы мен бақылауының ретроспективті талдауы жүргізілді. Вакцинациядан кейін пациентте оверлап-синдром, ревматоидты артрит және жүйелі қызыл жегі (ЖҚЖ) дамыды. Қан талдауы лейкопенияны (2,8 × 10⁹), тромбоцитопенияны (104 бірлік/мкл), гипохромды анемияны (гемоглобин 87 г/л), жоғары ЭТЖ, артқан ревматоидты факторды (13,9), С-реактивті ақуыздың деңгейінің көтерілуін (70,4) және антистрептолизин О-ның жоғарылауын (218 ХБ/мл) көрсетті. Сондай-ақ ядролық антигендерге қарсы антиденелер (ANA) (32 бірлік) анықталды. Науқас гормондармен, стероидты емес қабынуға қарсы препараттармен және ритуксимабпен емделді. Бұл жағдай SinoVac-CoronaVac препаратымен вакцинация иммундық жүйені белсендіріп, аутоиммундық оверлап-синдромның дамуына триггер болғанын болжауға мүмкіндік береді. Бұл клиникалық жағдайды талдау COVID-19-ға қарсы вакцинациядан кейінгі ықтимал жанама әсерлерге назар аударады. Бұл тәуекелдерді түсіну вакцинациядан кейінгі пациенттерді бақылау мен күтімді жақсарту үшін маңызды.

COVID-19 became a true medication target worldwide due to its pandemic scale in 2020. Viral infections are generally hard to cope with, especially, if the viral load and spreading speed seriously surpass the immune reaction, both innate and adaptive. Thus, only relatively few drugs were used clinically to stop either in the early stages of viral reproduction like with the help of Tenvir (Tenofovir) or vaccination to gain collective immunity in a particular population. None of the interferon-based drugs showed clear medical effects in medical trials and during pandemic hospitalization protocols. However, purine-analogs like Tenvir and others showed sustainable survival and recovery rates among SARS-COV-2 virus-infected patients at moderate and severe stages of pneumonia caused by this virus. This article reveals the invitro testing of the Tenvir drug on virus strain, Variant B.1.1, Sampled from Kazakhstan and molecular-genetic characterization of NSP12 (non-structural protein 12) located in ORF1b region of the SARS-COV 2 genome. Tenvir or tenofovir was broadly used against HIV infection and this study shows a sufficient effect on viral spread due to RdRP-inhibiting properties in-vitro.

Introduction. Among the persistent consequences of SARS-CoV-2 infection in children, Long COVID and Multisystem Inflammatory Syndrome in Children (MIS-C) have attracted the greatest clinical attention. Although both conditions develop after resolution of the acute illness, their underlying mechanisms and clinical courses differ significantly, which is critical for diagnosis and management. Objective. We set out to compare the epidemiological, clinical, immunological, and diagnostic profiles of Long COVID and MIS-C in pediatric patients, focusing particularly on biomarker patterns and their implications for optimal post-COVID follow-up. Materials and Methods. Cclinical records from pediatric wards and outpatient clinics across Kazakhstan (2020–2022) were reviewed and compareds with key international studies. Assessmentsincludred fatigue, neurocognitive, psycho-emotional, cardiovascular, and gastrointestinal symptoms. Laoratory analyses comprised RT-PCR cycle threshold (Ct) valueis, IgG serology, and measuremenst of CRP, ferritin, IL-6, D-dimer, and procalcitonin. Cas classification followedr WHO (2023) and CDC (2022) criteri.a. Results. Among children with Long COVID, fatigue (55%), cognitive difficulties (35%), and psycho-emotional symptoms (30%) were predominant. In contrast, MIS-C typically presented with fever (100%) and was characterized by gastrointestinal (80%) and cardiovascular (70%) involvement. Children in the acute phase exhibited low Ct values (≤25), indicating higher viral loads than suggested by their mild clinical presentation. IgG titers declined more rapidly in children than adults, indicating reduced humoral immunity durability. MIS-C cases demonstrated markedly elevated CRP, ferritin, IL-6, and D-dimer levels, consistent with a cytokine-driven inflammatory response. Conclusions. Despite distinct pathogeneses, both conditions arise from SARS-CoV-2-induced immune dysregulation. Long COVID manifests as a chronic, low-grade inflammatory state with significant neurocognitive and psycho-emotional effects, whereas MIS-C presents as an acute hyperinflammatory syndrome. Systematic biomarker monitoring and individualized vaccination strategies are essential for preventing severe outcomes and facilitating full recovery in pediatric patients. Длительный COVID и мультисистемный воспалительный синдром у детей (MIS-C) являются двумя основными постинфекционными осложнениями SARS-CoV-2, которые продолжают оказывать значительное влияние на здоровье детей во всем мире. Несмотря на то, что оба синдрома развиваются после острой фазы инфекции, они существенно различаются по патогенезу, клиническим проявлениям и долгосрочным последствиям. Цель исследования. Провести сравнительный анализ эпидемиологических, клинических, иммунологических и диагностических особенностей длительного COVID и MIS-C у детей с акцентом на профиль биомаркеров и значение для постковидного наблюдения. Материал и методы. Исследование основано на анализе клинических данных, собранных в педиатрических отделениях Казахстана в 2020–2022 годах, и сопоставлении их с результатами международных исследований. Клиническая оценка включала анализ проявлений усталости, когнитивных, психоэмоциональных, сердечно-сосудистых и желудочно-кишечных симптомов. Лабораторное исследование включало ПЦР-диагностику (пороговые значения Ct), серологическое определение IgG и оценку воспалительных биомаркеров (СРБ, ферритин, IL-6, D-димер, прокальцитонин). Интерпретация данных проводилась в соответствии с определениями ВОЗ (2023) и CDC (2022) для постковидных состояний и MIS-C. Результаты. У детей с длительным COVID преобладали усталость (55%), когнитивные нарушения (35%) и психоэмоциональные расстройства (30%), тогда как MIS-C характеризовался лихорадкой (100 %), желудочно-кишечными (80%) и сердечно-сосудистыми (70%) проявлениями. У детей выявлены низкие Ct-значения (≤ 25), что указывает на высокую вирусную нагрузку в острой фазе заболевания. Уровни антител IgG снижались быстрее, чем у взрослых, что указывает на менее устойчивый гуморальный иммунитет. При MIS-C отмечалось значительное повышение СРБ, ферритина, IL-6 и D-димера, что подтверждает цитокин-опосредованную гипервоспалительную реакцию. Выводы. Длительный COVID и MIS-C представляют собой различные, но перекрывающиеся постинфекционные состояния, связанные с иммунной дисрегуляцией....