Objectives: This study aimed to assess the prevalence and associations between lifestyle, psychological, and biological risk factors and the presence of multiple sclerosis (MS). Patients and methods: A cross-sectional, observational, case-control study was conducted including 278 patients (105 males, 173 females; median age: 33 years; range, 16 to 61 years) with MS and 291 age-, sex-, and region-matched healthy controls (100 males, 191 females; median age: 33 years; range, 19 to 63 years) between January 1, 2013, and December 31, 2022. Multiple sclerosis diagnoses were based on national clinical guidelines. Risk factors assessed included smoking (active and passive), alcohol use (Alcohol Use Disorders Identification Test), physical activity (International Physical Activity Questionnaire-Short Form), vitamin D levels, Epstein-Barr virus (EBV) serostatus, body mass index, perceived stress (Perceived Stress Scale-10), anxiety (Generalized Anxiety Disorder-7), and depression (Patient Health Questionnaire-9). Data were collected using structured interviews and validated scales. Logistic regression (univariate and multivariate) was performed to estimate adjusted odds ratios (ORs) for MS risk, with additional interaction and sex-stratified analyses. Results: Patients with MS had significantly higher rates of vitamin D deficiency (59.7% vs. 43.0%), EBV seropositivity (93.5% vs. 82.8%), physical inactivity (69.4% vs. 32.3%), high stress (41.4% vs. 29.2%), severe anxiety (27.0% vs. 14.8%), and severe depression (9.7% vs. 2.7%) compared to controls (p<0.001 for all). Multivariate regression identified the following independent protective factors: ≤9.9 pack-years of smoking (OR=0.30), no passive smoking before age 17 (OR=0.41), alcohol abstinence (OR=0.49), health-enhancing physical activity (OR=0.18) and minimal physical activity (OR=0.36), sufficient (OR=0.47) and insufficient (OR=0.51) vitamin D, EBV seronegativity (OR=0.35), moderate anxiety (OR=0.37), and mild depression (OR=0.25). A significant interaction between moderate stress and insufficient vitamin D levels was observed in females, with MS odds approximately 4.3 times higher in those exposed to both factors. Sex-stratified models indicated stronger associations with lifestyle factors in males and a greater contribution of psychological variables among females. Conclusion: Multiple sclerosis susceptibility appears to be associated with multiple modifiable factors. Physical activity, vitamin D sufficiency, and EBV seronegativity showed strong negative associations with MS. Lifestyle-related exposures, such as alcohol use and smoking, were more strongly associated with MS in males, while psychological factors (stress, anxiety, and depression) demonstrated stronger associations in females. The observed interaction between moderate stress and insufficient vitamin D levels suggests a potential synergistic pattern that may warrant further investigation. These findings support the importance of a multifactorial perspective in MS research, emphasizing the need for sex-specific risk profiling. Longitudinal and mechanistic studies are needed to validate these associations and clarify potential causal pathways.

In one of the regions of Azerbaijan Republic while clinic examination with doctor-pediatrician, doctor-neurologist and doctor-geneticist a girl of 5 years of age was identified as suspicious of mucopolysaccharidosis. N-acetyl-galactosamin-6-sulfatase enzyme analysis has shown low activity of 0,1 μmol/L at norm of >0,2 μmol/L/h. Molecular-genetic analysis of GALNS gene identified substitution of Adenine nucleotide with Guanine nucleotide in 1283 (с.1283 A>G) position accompanied with amino acid change Gln428Arg (Morquio A; OMIM®: 253000). These results correspond to the presence of MPS IVA type. With the consent of both parents and at the term of 16-17-week pregnancy transabdominal amniocentesis was carried out. At the level of DNA, isolated from fibroblasts from amniotic liquid, we have got heterozygous carriage of a с.1283 A>G mutation of GALNS gene, that says of a healthy fetus. We plan to carry out prenatal diagnostics to all families of reproductive age, who have got affected children diagnosed with MPS.

Objectives: The study aimed to estimate the diagnosis-based incidence of multiple sclerosis (MS) in Azerbaijan between 2013 and 2022 and the recorded point prevalence as of December 31, 2022, using data from the centralized registry of the national referral center and to evaluate differences according to age, sex, and place of residence. Patients and methods: This registry-based observational study included residents of Azerbaijan who were assessed for suspected MS or reconfirmation of a previous diagnosis between January 1, 2013, and December 31, 2022. Diagnosis or reconfirmation was based on the national clinical protocol aligned with the 2010 and 2017 McDonald criteria. Newly diagnosed patients were included in the recorded diagnosis-based incidence analyses, whereas surviving patients with confirmed or reconfirmed MS on December 31, 2022, were included in the recorded point prevalence analyses. Crude, age-specific, and age-standardized rates were calculated using official population denominators and the world and European standard populations. Results: Among 2,006 assessed individuals, MS was confirmed or reconfirmed in 1,796 patients; 1,411 (mean age: 34.47 years; range, 15 to 66 years) were newly diagnosed, and 1,753 (mean age: 41.53 years; range, 18 to 73 years) were alive on December 31, 2022. Females accounted for 65.7% of confirmed cases, with a female-to-male ratio of 1.92:1, and 66.4% were urban residents. The mean annual crude recorded diagnosis-based incidence was 1.44 per 100,000 person-years. Recorded incidence peaked at 35 to 39 years. World- and European-standardized recorded incidence rates were 1.33 and 1.22 per 100,000 person-years, respectively; corresponding standardized recorded point prevalence rates were 15.47 and 16.50 per 100,000 persons. Conclusion: These referral center-based recorded estimates indicate a relatively low recorded MS burden in Azerbaijan, with female predominance and higher recorded rates among urban residents. Since the registry was not population-based and incomplete ascertainment may have influenced the estimates, particularly in rural or underserved areas, these findings should be interpreted as a baseline for strengthening MS surveillance and improving equitable diagnostic access.

Objective. To assess the prevalence rate of intracranial hemorrhage in newborns and to detect the size of the relative risk for different characteristics of the background of intrauterine development according to the materials of the Republican Prenatal Center. Material and methods. The study was conducted on the basis of the Republican Prenatal Center of the Azerbaijan Republic. All newborns (996 children) (birth weight — 500 grams or more, gestational age — over 22 completed weeks) have been examined by a neuropathologist. If there were signs of any neurological abnormalities, an ultrasound examination of the brain was performed. Results. The prevalence rate of intracranial non-traumatic hemorrhage (INTH) among newborns was 15.66% (4.8% among full-term, 48.8% among premature). Depending on mother’s age the prevalence rate of INTH changed from 12.7% (mother’s age 20—24 years) to 23.0% (mother’s age 35 years or more). Conclusion. The risk of INTH statistically significantly increased with maternal age 35 years or more, with 4 or more births, with the birth of a fetus weighing up to 2500 and more than 4000 grams, with a gestational age of less than 37 weeks, with multiple pregnancies and with vaginal delivery.