A duodenal septum or membrane is the most common type of duodenal atresia (type I). It can manifest in infancy if the membrane is perforated (fenestrated). However, fenestrated duodenal septa pose a diagnostic challenge for pediatric surgeons due to their variable clinical presentation. This report presents a clinical case of membranous duodenal atresia with a late diagnosis.

Background/Objectives: Colorectal cancer (CRC) is molecularly heterogeneous, and the KRAS (Kirsten rat sarcoma viral oncogene homolog) genotype both governs eligibility for anti-EGFR (epidermal growth factor receptor) therapy and carries prognostic weight. Central Asian data are scarce: no Kazakhstani series has described the KRAS variant spectrum, linked it to survival, or reported mutation detection rates across specimen types and PCR platforms. Methods: We studied 332 patients with morphologically confirmed stage II–IV colorectal adenocarcinoma. KRAS status was determined in formalin-fixed paraffin-embedded (FFPE) tumor tissue by allele-specific real-time PCR (RT-PCR) covering six selected codon 12 and 13 variants. Overall survival (OS) was estimated by the Kaplan–Meier method for the whole cohort and with stage stratification. Separately, mutation detection rates were recorded in three non-overlapping groups of different patients: plasma RT-PCR on the Idylla platform (n = 30), plasma nanoplate digital PCR (dPCR) on QIAcuity One (n = 120), and a routine tissue RT-PCR series (546 evaluable of 550). Because these groups differed in patients, specimen type, and mutation panel, this comparison describes observed detection rates only and supports no inference about analytical sensitivity, specificity, or concordance. Results: KRAS was mutated in 149/332 tumors (44.9%); codon 12 supplied 80.5% of variants, led by G12D (32.2%), G12V (24.8%) and G13D (19.5%). Median OS did not differ between mutant and wild-type tumors (39.0 vs. 36.6 months; p = 0.40). Variant-level differences were directionally consistent, but none was significant, and all were exploratory and unadjusted for multiplicity. Observed detection rates were 40.3% for tissue RT-PCR (220/546), 13.3% for plasma RT-PCR (4/30; continuity-corrected p = 0.006 vs. tissue), and 50.8% for plasma dPCR (61/120; continuity-corrected p = 0.044, Pearson p = 0.034 vs. tissue). BRAF V600E was detected by plasma dPCR in 11/120 cases (9.1%). Conclusions: This first Kazakhstani series places KRAS frequency within the internationally reported range and shows that variant-level reporting reveals prognostic structure that a binary call conceals. The higher detection rate seen with plasma dPCR is hypothesis-generating, not evidence of platform superiority, and motivates a prospective paired-sample study with harmonized mutation panels.

BACKGROUND AND IMPORTANCE: Microsurgical DREZotomy (MDT) involves lesioning the dorsal root entry zone at the cervical spinal level, carrying a potential risk of iatrogenic spinal cord injury. Misidentifying the C4 root can lead to impaired diaphragmatic contractions and respiratory compromise. This report is the first MDT procedure in our Central Asian region and introduces the simultaneous analysis of 3 ventilator waveforms—capnography, pressure time, and flow time—as a novel, rapid-response intraoperative neurophysiological monitoring for definitive C4 root identification. CLINICAL PRESENTATION: Traumatic brachial plexus avulsion is an upper limb injury resulting in severe complications such as paralysis and neuropathic pain. Patients with refractory, pharmaco-resistant pain may be candidates for cervical MDT. Intraoperative neurophysiological monitoring during MDT is beneficial because it allows for anatomical mapping from C4 to Th1 nerve roots. The C4 root should not be targeted during MDT because it is cardinal for diaphragmatic muscular activity. Three ventilation curves simultaneously displayed synchronous changes during C4 ventral root stimulation, indicative of phrenic excitation and the diaphragm's reaction against the anesthesia machine. The expected C4 ventral root responses completely aligned with the stimulation patterns observed across all 3 monitored parameters. CONCLUSION: The simplicity of this method and its high practical applicability make it valuable for identifying phrenic nerve fibers during various surgical procedures where nerve roots responsible for diaphragmatic muscle contraction may be at risk.

Introduction.Minimal residual disease (MRD) is a key predictor of relapse and survival in pediatric acute lymphoblastic leukemia (ALL), as well as a central component of risk-adapted treatment protocols, including the BFM approach. [1,2] Aim. To present data from a systematic review on MRD monitoring in pediatric ALL and to compare the advantages and prognostic value of the main MRD detection methods (multicolor/next-generation flow cytometry, Ig/TCR-RQ-PCR, and NGS), as well as factors influencing the reliability of results. Search strategy. A systematic search was conducted in PubMed and Scopus databases and peer-reviewed journals covering publications from 2010 to 2025. Studies on pediatric ALL describing MRD detection methods, time points of assessment, and treatment outcomes (EFS/OS/relapse), as well as current guidelines defining MRD standards, were included. Results. MRD levels reflect the effectiveness of treatment protocols and clinical management strategies, including treatment intensification in patients with disease progression and consideration of alternative therapeutic approaches in cases of persistent MRD. [15,16] Within the BFM protocol, the most significant MRD is observe d on day 15 and at the end of induction therapy (day 33), with a broad threshold of 10⁻⁴(0.01%). [3,4] Multicolor flow cytometry (MFC/NGF) enables rapid decision-making, while molecular methods (Ig/TCR-RQ-PCR, NGS) improve analytical sensitivity and reproducibility, maintaining standard quality parameters (LOD/LOQ, QA, hemodilution control). [1,5,6] MRD dynamics between days 15 and 33 provide independent prognostic information. [3,7] Conclusions. MRD monitoring in pediatric acute lymphoblastic leukemia is an essential component of risk-adapted therapy. For clinical application, standardized bone marrow sampling, defined limits of detection and quantification, and consistent interpretation of MRD levels and their dynamics according to protocol are required. [1,5,6] Введение. Минимальная остаточная болезнь (МОБ) - это основной предиктор рецидива и выживаемости при остром лимфобластном лейкозе (ОЛЛ) у детей, а также ключевой элемент риск-адаптированных протоколов, включая подход BFM. [1,2] Цель. Представить данные систематического обзора о мониторинге МОБ при ОЛЛ у детей и сравнить преимущества и прогностическую ценность основных методов обнаружения МОБ (многоцветная/проточная цитометрия следующего поколения, Ig/TCR-RQ-PCR, NGS) и факторы, определяющие надежность результатов. Стратегия поиска. Был проведен систематический поиск в базах данных PubMed, Scopus, журналов по публикациям за с 2010 по 2025 год. Включены исследования по детскому ОЛЛ, описывающие методы определения МОБ, временные точки и результаты лечения (EFS/OS/рецидив), а также текущие руководства приводящие к стандарту МОБ. Результаты. Показатели МОБ отражают эффективность протоколов и тактики ведения: интенсификация лечения у пациентов с прогрессированием и обсуждение альтернативных методов лечения при персистирующей МОБ [15,16]. В BFM-подходе наиболее значительная МОБ наблюдается на 15-й день и в конце индукции (33-й день) с пороговым значением широкого спектра 10⁻⁴ (0,01%). [3,4] Многоцветная проточная цитометрия (MCF/NGF) обеспечивает высокую нагрузку и скорость принятия решения; молекулярные методы (Ig/TCR-RQ-PCR, NGS) повышают аналитическую чувствительность и воспроизводимость при сохранении стандартных показателей качества (LOD/LOQ, QA, контроль гемодилюции). [1,5,6] Динамика разрешения МОБ в период с 15 по 33 день предоставляет независимую прогностическую информацию. [3.7] Выводы: Мониторинг МОБ у детей с острым лимфобластным лейкозом является важным компонентом терапии, адаптированной к риску. Для клинического применения необходимы стандартизированный забор костного мозга, определение пределов обнаружения и количественного определения, интерпретация уровней МОБ и их динамики в соответствии с протоколом. [1,5,6] Кіріспе. Минималды қалдық ауру (МОА) — балалардағы жедел лимфобластты лейкоз (ЖЛЛ) кезінде рецидив пен өмір сүру ұзақтығының негізгі болжамдық көрсеткіші, сондай-ақ BFM тәсілін қоса алғанда, қауіпке бейімделген хаттамалардың маңызды элементі болып табылады. [1,2] Мақсаты. Балалардағы ЖЛЛ...

Background and Objectives: Infantile spasms (ISs), or West syndrome (WS), represent an early-onset epileptic encephalopathy in which diverse structural, genetic, metabolic, infectious, and neurocutaneous conditions converge on a shared pattern of hypsarrhythmia, clustered spasms, and later developmental impairment. Growing use of genomic diagnostics has revealed that variants in STXBP1, KCNQ2, GRIN2A, GRIN2B, and TSC-related genes are more common than previously recognized and can be linked to partially actionable pathways. This review aimed to synthesize current evidence on the multifactorial etiology, network-based pathogenesis, and evolving targeted therapies for ISs, with particular attention to TSC-related forms. Materials and Methods: A structured narrative review was undertaken of publications from 1990 to 2025 in PubMed, Scopus, Web of Science, and Embase using terms related to ISs, WS, genetics, mTOR, ACTH, vigabatrin, ketogenic diet, and precision therapies. Authoritative guidance from ILAE and AAN was incorporated. Clinical, molecular, and therapeutic data were grouped under etiological, pathogenetic, and management domains. Results: Structural causes remained the largest group, but combined genetic, genetic–structural, and metabolic etiologies accounted for about one third of contemporary cohorts. Early network disruption involving cortex, thalamus, basal ganglia, and brainstem, together with imbalances in NGF, BDNF, and IGF-1, explained why distinct primary insults produce a uniform electroclinical phenotype. Early treatment with ACTH or high dose prednisolone, with or without vigabatrin, was consistently associated with higher electroclinical remission and better developmental outcome. Everolimus and related mTOR inhibitors showed benefit in TSC-associated ISs, while agents directed at NMDA receptors or KCNQ channels are emerging for genotype defined subgroups. Conclusions: ISs should be approached as a heterogeneous but mechanistically convergent disorder in which rapid diagnosis, parallel genetic testing, and early disease modifying therapy improve prognosis. Integration of molecular profiling with standardized outcome monitoring is likely to move management from symptomatic seizure control to pathway-specific intervention.

Введение. Синдром Веста – редкая и тяжелая форма эпилепсии, которая обычно поражает детей первого года жизни. Несмотря на обширные исследования, патогенез и оптимальное лечение этого синдрома остаются неясными. Оптимальный подход к лечению синдрома Веста остается предметом дискуссий, а эффективность различных стратегий лечения сильно различается в разных исследованиях. Цель исследования. Выявить поло-возрастную характеристику и клинико-электро-радиологические особенности синдрома Веста. Материалы и методы. В исследование были включены пациенты, которые соответствовали критериям ILAE для диагностики синдрома Веста. Данные были собраны из медицинских карт, включая демографические данные пациентов, клиническую картину, результаты ЭЭГ, нейровизуализационные исследования и результаты лечения. Для анализа клинических характеристик синдрома Веста в этой популяции использовалась описательная статистика. Для оценки связи между категориальными переменными использовались Тесты хи-квадрат. Для оценки времени до контроля приступов применялся метод Каплана-Мейера, а для сравнения времени до контроля приступов между различными группами лечения использован критерий логарифмического ранга. Результаты. В данном ретроспективном исследовании были проанализированы случаи синдрома Веста в детской городской клинической больнице за семилетний период. Исследование было направлено на оценку клинических характеристик, результатов лечения и сопутствующих факторов синдрома Веста в этой популяции. Результаты показывают, что ранняя диагностика и соответствующее лечение имеют решающее значение для достижения благоприятных результатов при синдроме Веста. Выводы. Изучение клинико-электро-радиологических характеристик свидетельствует о том, что по этиологической структуре преобладает структурно-приобретенные нарушения головного мозга, среди которых ведущей этиологией является гипоксически-ишемическое поражение головного мозга вследствие нарушения мозгового кровообращения. В плане дальнейшее изучение влияния клинико-электро-радиологических и генетических данных на исход с применением полиномиальной логистической или мультилинейной регрессии. Introduction. West syndrome is a rare and severe form of epilepsy that usually affects children in their first year of life. Despite extensive research, the pathogenesis and optimal treatment of this syndrome remain unclear. The optimal approach to the treatment of West syndrome remains a matter of debate, and the efficacy of different treatment strategies varies widely across studies. Aim. To reveal gender and age characteristics and clinical and electro-radiological features of West's syndrome. Materials and methods. The study included patients who met the ILAE criteria for the diagnosis of West syndrome. Data was collected from medical records, including patient demographics, clinical presentation, EEG findings, neuroimaging studies, and treatment outcomes. Descriptive statistics were used to analyze the clinical characteristics of West syndrome in this population. Chi-square tests were used to assess associations between categorical variables. The Kaplan-Meier method was used to estimate time to seizure control, and a log-rank test was used to compare time to seizure control between different treatment groups. Results. In this retrospective study, cases of West syndrome were analyzed in a children's city clinical hospital over a five-year period. The study aimed to evaluate the clinical characteristics, treatment outcomes, and comorbidities of West syndrome in this population. The results show that early diagnosis and appropriate treatment are critical to achieve favorable outcomes in West syndrome. Conclusions. The study of clinical, electro-radiological characteristics indicates that the etiological structure is dominated by structurally acquired disorders of the brain, among which the leading etiology is hypoxic-ischemic brain damage due to cerebrovascular accident. In terms of further study of the impact of clinical, electro-radiological and genetic data on outcome using polynomial logistic or multilinear regression. Кіріспе.Вест...