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.
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.
1 June 2023 in Interdisciplinary Approaches to Medicine
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy with variety of nonspecific symptoms that may present with signs and symptoms related to extramedullary involvement, therefore, leads to delayed diagnosis of ALL in children. Aim: This study aims to determine the prevalence of extramedullary manifestations at the initial presentation of acute lymphoblastic leukemia in children. Method: This is a retrospective, cross-sectional study assessing medical records of 73 patient newly diagnosed (ALL) at Almaty Scientific center of pediatrics and surgery during-2020. The children had a mean age of 6.9 ±4.27 years. The female and male patients made 46 (63 %) and 27(37 %) respectively. children with acute lymphoblastic disease were classified into two subtypes (B-cell ALL and T-cell ALL) according to the WHO classification. Data earned from the study were enrolled within a directory also statistical analysis was done by applying the software (SPSS) version 26.0. Categorical variables resembled using the chi-square test or Fisher's exact test, as appropriate.Result: In this study, the most common extramedullary initial signs and symptoms of ALL were related to hepatic system 49 (67.1 %) and gastrointestinal symptom 43 (58.9%).The additional extramedullary presentations of ALL in order of frequency include; lymphadenopathy 20 (27.4%) , musculoskeletal system 19 (26%) urinary system 9 (12.3 %), Respiratory 9 (12.3 %) , Neurological system 5 (6.8%) orbital presentation 3 (4.1%), neurologic signs 8 (9%%), pericardial involvement 1 (1.4%), and the other miscellaneous presentations 3 (4.1%).Conclusion: This study showed that a significant number of ALL patients present with variety of extramedullary symptoms that pediatrician must become familiar with those to detect some atypical cases of leukemia early on. And increase the probable chance of survival by early detection.
30 June 2026 in Russian Journal of Gastroenterology, Hepatology, Coloproctology
Aim: to present the results of an interdisciplinary international expert council on addressing the challenges of managing patients with non-alcoholic (metabolic dysfunction-associated) fatty liver disease in connection with the creation of a new nomenclature, the definition of diagnostic criteria, and the development of approaches to the diagnosis and treatment of fatty liver disease. Key points. The key role of metabolic dysfunction in non-alcoholic (metabolic dysfunction-associated) fatty liver disease has been proven. Therefore, in the nomenclature, non-alcoholic fatty liver disease (NAFLD) has been replaced by metabolic dysfunction-associated fatty liver disease, and non-alcoholic steatohepatitis has been replaced by metabolic dysfunction-associated steatohepatitis. It is noted that, according to research, the prevalence of fatty liver disease in Russia is high: one-third of patients seeking primary care have this diagnosis. The results of a study of two incretin mimetics, semaglutide and tirzepatide, are presented, along with an opinion on their rational combination with ursodeoxycholic acid. The comorbidity of fatty liver disease with cardiovascular, endocrine, and oncological diseases, chronic kidney disease, and other conditions is discussed. Conclusion. The expert council included leading specialists: gastroenterologists-hepatologists, cardiologists, internists, and endocrinologists. There were confirmed that treatment for fatty liver disease should be comprehensive and integrated into the overall concept of metabolic health. Algorithms for diagnosis and personalized treatment of fatty liver disease have to be developed for the Russian medical community.