Background: Gestational diabetes mellitus (GDM) poses a growing public health challenge worldwide due to its increasing prevalence, associated pregnancy complications, and long-term metabolic risks for both mothers and offspring. Genetic factors are known to contribute to GDM susceptibility, yet little is known about their relevance in ethnic Kazakh population. The primary objective of this study was to evaluate associations between selected candidate SNPs involved in β-cell function and the risk of GDM in a Kazakh cohort. Secondary objectives included the assessment of potential gene–gene interactions. Methods: We conducted a case–control study among 365 pregnant Kazakh women. Of these, 217 were diagnosed with GDM, and 148 had normal glucose tolerance. Clinical and genealogical data were collected. Eight candidate SNPs that were previously associated with GDM or glucose metabolism were genotyped. Logistic regression was used to assess associations between SNPs and GDM risk. Gene–gene interactions were evaluated using multifactor dimensionality reduction (MDR). Results: In univariate analysis, MTNR1B rs10830963 demonstrated a statistically significant association under the additive model (OR 0.61, 95% CI 0.42–0.89), indicating a potential protective effect of the C allele. However, this association was not statistically significant after multivariable adjustment (adjusted OR 0.58, 95% CI 0.32–1.03) and correction for multiple testing. In the adjusted analysis, TCF7L2 rs7903146 showed a significant association under the dominant model (adjusted OR 2.29, 95% CI 1.01–5.46); however, this finding did not remain significant following FDR correction. MDR analysis showed that the best two-locus model included IGF2BP2 rs4402960 and CDKAL1 rs7754840 (CVC = 6/10; testing accuracy = 0.558; permutation p < 0.001). The most stable interaction was observed for the three-locus model comprising IGF2BP2 rs4402960, MTNR1B rs10830963, and PPARG rs1801282 (CVC = 9/10; testing accuracy = 0.576; permutation p < 0.001). Conclusions: The findings suggest that common variants in IGF2BP2, CDKAL1, MTNR1B, TCF7L2, PPARG, and GCK do not exert strong individual effects on GDM susceptibility in this cohort of ethnic Kazakh women. Instead, the results are more consistent with a modest polygenic architecture characterized by small effect sizes and possible weak gene–gene interactions. MDR analysis identified statistically significant interaction models; however, their limited predictive accuracy indicates that these findings should be interpreted as exploratory.

Background. Surgical replacement of heart valves with mechanical prostheses is a life-saving procedure for patients with valvular defects. Postoperative success depends heavily on the efficacy and safety of anticoagulant therapy. Warfarin remains the primary drug to prevent thrombotic complications in such patients. Despite its efficacy, warfarin requires individualized dosing, long-term monitoring, and careful bleeding risk assessment. It is a leading cause of serious adverse drug reactions, accounting for up to one-third of related hospitalizations and deaths. A pharmacogenetic approach is increasingly important in optimizing warfarin therapy. Gene polymorphisms affect warfarin metabolism and sensitivity, making the study of these factors particularly relevant in underrepresented populations, such as patients of Kazakh nationality. However, there is limited data on warfarin response in this group. Materials and Methods. This is the first study of its kind among Kazakh patients. It includes 310 individuals who underwent mechanical heart valve replacement and received warfarin therapy between 2015 and 2020. The aim was to evaluate the association between genotype, warfarin dose, and complication rates. Results. Patients showed variable coagulation responses, with INR fluctuations and both hemorrhagic and thrombotic complications documented. Risk factors for adverse outcomes were identified, underscoring the importance of individualized dosing and close monitoring. Conclusions. This study highlights the need for genotype-based dose adjustment to improve the safety and effectiveness of warfarin therapy in Kazakh patients after mechanical valve replacement.

Background: Atrial fibrillation frequently coexists with mitral valve disease and is associated with adverse clinical outcomes. Concomitant surgical ablation has emerged as an effective strategy to restore sinus rhythm during mitral valve surgery. Methods: A systematic review was conducted according to PRISMA guidelines. Electronic databases were searched for studies published between January 1991 and January 2026. Eligible studies included adult patients undergoing mitral valve surgery with concomitant surgical ablation. Due to heterogeneity, a qualitative synthesis was performed. Results: A total of 25 studies were included. Early evidence established the Cox-Maze III procedure as an effective approach with high rates of sinus rhythm restoration. Contemporary data demonstrate that the Cox-Maze IV procedure provides comparable efficacy with reduced technical complexity. Long-term follow-up showed sustained sinus rhythm in a substantial proportion of patients, with possible reductions in thromboembolic events and possible survival benefit reported in some observational studies. However, interpretation of these findings is limited by clinical and methodological heterogeneity. However, an increased risk of permanent pacemaker implantation remains a consistent finding. Procedural success is influenced by lesion set configuration, completeness of ablation, and surgical approach. Conclusions: Concomitant surgical ablation during mitral valve surgery is consistently associated with better rhythm outcomes, while evidence for harder clinical endpoints, including stroke and survival, remains less certain. Individualized surgical approaches remain essential to balance rhythm efficacy, procedural complexity, and the risk of permanent pacemaker implantation.

Background and Objectives: Chronic spontaneous urticaria (CSU) significantly affects patients’ quality of life (QoL) and remains challenging to manage, particularly in under-researched regions. This study aimed to assess the clinical burden, disease control, and quality of life among patients with CSU in Kazakhstan and to identify predictors of severe disease activity. Materials and Methods: We conducted a cross-sectional study of 350 patients with CSU attending the Republican Allergy Center in Almaty between December 2024 and June 2025. Patients were classified based on the presence of co-existing chronic inducible urticaria (CIndU), angioedema, or both. Disease activity, control, and QoL were assessed using the Urticaria Activity Score over 7 days (UAS7), Urticaria Control Test (UCT), and Dermatology Life Quality Index (DLQI), respectively. Multivariable logistic regression and correlation analyses were used to identify predictors of severe disease and interrelationships among clinical measures. Results: Among 350 patients (mean age 43.5 ± 14.7 years; 78% female), 46.3% had CSU alone, while 53.7% had associated phenotypes. Severe urticaria (UAS7 ≥ 28) affected 30% of patients. Suboptimal disease control (UCT ≤ 11) was reported in 30%, and 30% experienced strong or very strong QoL impairment (DLQI > 10). Older disease onset (≥60 years; OR = 1.98; 95% CI: 1.02–3.81) and nighttime symptoms (OR = 1.67; 95% CI: 1.02–2.73) were independently associated with severe disease. A strong inverse correlation was observed between UAS7 and UCT (ρ = −0.71), and a positive correlation between UAS7 and DLQI (ρ = 0.66), highlighting the impact of disease activity on control and QoL. Conclusions: CSU imposes a substantial clinical and psychosocial burden in Kazakhstan. One-third of patients experience severe symptoms and impaired QoL despite ongoing treatment. Older age at disease onset and nighttime symptoms may serve as practical indicators of disease severity. These findings highlight the need for improved access to advanced therapies, systematic monitoring using validated tools, and multidisciplinary care strategies in resource-constrained settings.

Objective: In this study, we aimed to determine the most significant risk factors for 5-year mortality in patients with paroxysmal and persistent drug-refractory tachysystolic atrial fibrillation after undergoing atrioventricular node ablation (AVNA) in combination with the implantation of a permanent three-chamber pacemaker with an implantable cardioverter–defibrillator function (CRT-D). Methods: This prospective single-center cohort study included 101 patients with chronic heart failure (mean age 62 ± 15.5 years; 70.3% male) with paroxysmal or persistent drug-refractory atrial fibrillation who underwent atrioventricular node ablation and CRT-D implantation. All patients received optimal medical therapy before and after undergoing the procedure. Predictors of 5-year mortality were assessed using exploratory machine-learning methods, including random forest and Shapley additive explanations. Results: During 5-year follow-up, 13 cardiovascular deaths were recorded. Five key predictors of mortality were identified: left ventricular ejection fraction, 6 min walk distance, mean pulmonary artery pressure, systolic relaxation coefficient, and degree of mitral regurgitation. The exploratory predictive model showed high accuracy (92%) in terms of classifying the outcomes. Conclusions: Atrioventricular node ablation (AVNA) combined with CRT-D was associated with the observed long-term clinical outcomes observed in patients with drug-refractory tachysystolic atrial fibrillation. The exploratory machine learning analysis identified key mortality-associated factors, which may support future efforts in personalized risk stratification and hypothesis generation. The combination of AVNA and CRT-D was associated with the observed long-term outcomes in this real-world cohort.

Background/Objectives: The aim of this study was to analyze spirometry quality and compliance with the current protocol in interstitial lung disease (ILD) patients at a tertiary-level facility in Almaty, Kazakhstan. Methods: We consecutively enrolled 125 patients, aged 60 (interquartile range (IQR) 52; 67) years, including 40 (32%) patients with idiopathic pulmonary fibrosis (ILD-IPF). Relaxed and forced maneuvers were completed, and we hereinafter analyzed vital capacity (VC), forced VC (FVC) and forced expiratory flow in one second (FEV1) both as z-scores and % predicted values in addition to number of attempts, ΔVC, ΔFVC, ΔFEV1, expiratory plateau volume and back extrapolation volume (BEV) in both maneuvers. Multiple regression was used to test predictors of these. Results: In this predominantly female cohort (73%), CAT (median 12; IQR 9; 18) and mMRC (median 2; IQR 1; 3) scores reflected high symptom burden with most suggestive of a restrictive pattern (62% of all, median FVC in the entire group −2.17; IQR −3.28; −1.4 z-scores or 68%; IQR 52.5; 80.5). The median VC and FVC maneuver attempts was 3. ΔVC was 0.05 (IQR 0.03; 0.09) L; ΔFVC was 0.07 (IQR 0.03; 0.12) L; and ΔFEV1 was 0.05 (IQR 0.02; 0.09) L, whereas expiratory plateau volume was 0.04 (IQR 0.02; 0.06) L. Ninety-six percent of tests were graded A or B based on ΔFVC and 98% based on ΔFEV1. Conclusions: This study showed that despite dyspnea and cough in ILD patients with severe symptom burden, a high quality of spirometric maneuvers can be obtained in the majority of patients.