Congenital heart defects (CHD) are the most common birth anomaly affecting approximately 1% of births and have a prevalence of about 5.8 per 1000 people. CHD is the most common congenital anomaly in newborn babies. Management of the newborn with CHD represents a frontier of clinical pediatric cardiology. Progress in diagnosis and surgical treatment of the individuals with a heart defect has progressed to the point that almost all heart defects can be significantly improved and treated. Cardiovascular malformations account for about 10% of infant deaths and nearly half of all deaths from malformations

Introduction: Hearing loss is the most common sensory deficit in humans. Early diagnosis and intervention are important in the acquisition of hearing, speech, and linguistic skills, thereby contributing to the positive development of the child. Aims: To study the state of hearing in children living in Kazakhstan, to identify the proportion of mutations in the connexin-26 gene in the event of sensorineural deafness. Methods: prospective case-control analysis. In total, 454 participants were examined. Results: It has been identified that for the Kazakh population with regard to the polymorphism of gene frequency GJB2 (35delG, 235Cdel, 167delT) the most characteristic is allele spectrum frequencies of 167delT polymorphism. Conclusion: Thus, the population frequencies of the mutation were studied: 35delG (0.49±0.28), 235delC (0.66±0.33), 167delT (1.64±0.51) of the GJB2 gene in the Kazakh population, which makes a significant contribution to the study of the gene pool of Kazakhs.

(1) Background: Reference-interval flags read a lipid–glucose panel one analyte at a time. We asked whether a routine five-analyte panel supports reproducible, transportable, auditable descriptive grouping of laboratory profiles. (2) Methods: Retrospective analysis of 21,832 laboratory-order records (adults; glucose, total cholesterol, triglycerides, HDL-C, LDL-C; collection dates not exported) from purchasers of a screening panel in Kazakhstan: log transform, robust scaling, PCA, K-means; eight cluster-number criteria; bootstrap recovery with and without pipeline refitting; frozen-classifier transfer to an identifier-disjoint cohort ($n=\mathrm{11,382}$) with de novo re-derivation; a fully specified reference-interval rule layer. No clinical endpoints were available. (3) Results: Four descriptive laboratory-pattern clusters (lower glucose and lipids; higher LDL-C/TC; higher triglycerides, lower HDL-C; marked hyperglycaemia) had bootstrap Jaccard 0.965–0.981 with and without pipeline refitting and were re-derived independently in the validation cohort (ARI 0.82); a five-cluster configuration was not (0.33). Prevalence-shift point estimates were within 5 percentage points (post hoc exploratory benchmark; the C1 interval slightly crossed it). Rule-based reconciliation changed the delivered category of 8.2% of records from their K-means label; flags alone reproduced 77% of reports but 30% of the triglyceride–HDL-C pattern. (4) Conclusions: The panel supports a stable descriptive partition; prognostic and clinical validity remain to be shown.

Background/Objectives: Interpretation of amino-acid and acylcarnitine results in newborn screening depends on population-appropriate reference intervals (RIs), and no locally derived paediatric RIs have been published for the general Kazakhstan population. We aimed to establish the first age- and sex-specific RIs for a tandem mass spectrometry (MS/MS) panel measured from dried blood spots (DBSs) by flow injection analysis tandem mass spectrometry (FIA-MS/MS) in a Kazakhstani paediatric population using an indirect (data-mining) approach. Methods: All amino-acid and acylcarnitine results (1 January 2022 to the data freeze on 20 July 2026) were extracted from the consolidated laboratory information system of a 21-branch network; after cleaning, deduplication and selection of conditionally healthy subjects, RIs (2.5th, 50th, 97.5th percentiles with 90% bootstrap confidence intervals) were computed per CLSI EP28-A3c across CALIPER age strata, with the neonatal period split into 0–7/8–14/15–28-day strata, and cross-validated by the canonical refineR package run without flag-based selection, the CLIR/Mayo database and a comparable Turkish study. Results: From 687,726 results in 4198 patients, the conditionally healthy cohort comprised 3589 subjects; the large majority of analyte–age strata permitted full CLSI EP28 computation. Canonical refineR and flag-based estimates agreed within ±30% in 91% of key-marker limits (median relative difference 9.6%), indicating that flag-based selection did not materially bias the upper limits. Reference intervals are reported for all amino acids and all 36 acylcarnitines of the panel. The valine 97.5th-percentile upper limit exceeded its 250 µmol/L decision limit at 0–28 days (275.3 µmol/L). Conclusions: We provide locally derived and internally cross-checked paediatric MS/MS RIs, pending prospective verification, and flag two actionable findings: inter-site harmonisation of several key markers and the overlap of the upper-normal valine limit with its clinical decision limit.

Introduction: Cerebral palsy is the most common childhood disability Aims: Analyze and determine the main risk factors for the development of cerebral palsy in the population of Kazakhstan Materials and methods: Retrospective, analytical "case" - "control". Core group "case" - medical records of 100 pregnant women whose children at different ages has been diagnosed with cere-bral palsy Results: Thus, a retrospective analysis revealed the following features and complications in the perinatal period, which could promote the formation of cerebral palsy in children. Analytical results of the study are set significant results in cerebral palsy development Conclusion: Premature birth and urinary tract infections turned out to be the largest contribu-tors to the development of cerebral palsy, however, according to statistics, the rate of preterm birth, as well as the detection of infections, stably remains at the same level, while the number of cerebral palsy has been steadily growing since the early 1990s in Kazakhstan.