Background: Spinal Muscular Atrophy (SMA), an autosomal recessive disorder characterized by lower motor neuron loss, leads to progressive muscle weakness and atrophy. With a neonatal incidence ranging from 1:6000 to 1:11000, individuals affected by SMA face challenges in locomotor function. The advent of newborn screening tests, early diagnostic techniques, and the introduction of gene therapy have, however, shown promise in enabling the acquisition of these motor skills. Objective: This review article seeks to shed a light on current understandings of the epidemiology, clinical presentations, diagnostic methods, and treatments for spinal muscular atrophy, highlighting cutting edge approaches within the discipline. Methods: A thorough search was conducted on PubMed, Cochrane, National Institutes of Health, and Web of Science databases for recent research articles concerning SMA’s incidence, prevalence, clinical manifestations, early detection, genetic testing and contemporary gene therapy. Results: The prevalence of SMA stands at 1-2 cases per 100,000 population, with an incidence of approximately 8 cases per 100,000 live births. Pre-1995 studies exhibited varying prevalence rates due to using non molecular-biological methods, small localized populations, diagnostic errors, and regional characteristics. Diagnosis involving Multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or next-generation sequencing (NGS) analysis to confirm SMN1 and SMN2 gene status aids in identifying carriers and SMA subtypes. Countries implementing newborn screening programs have demonstrated early SMA detection in asymptomatic newborns, contributing to reduced mortality and disability rates. Currently, several types of gene therapy are being used in the treatment of SMA. Conclusion The epidemiology of SMA varies between countries and regions. It is fully possible to confirm the disease, identify carriers and subtypes. The inclusion of SMA in newborn early detection programs is crucial for reducing infant mortality and disability, and several gene therapies have received approval from relevant authorities for SMA treatment. In Mongolia, it is possible to introduce tests to confirm the disease and determine carriers and subtypes.

Introduction: The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) has increased significantly over the last three decades worldwide, from 17.6% in 1990 to 23.4% in 2019. The development of this disease depends on many risk factors, including genetics, lifestyle, and environment. The PNPLA3 (patatin-like phospholipase domain-containing protein 3) gene is the most relevant genetic factor influencing the risk of metabolic dysfunction-associated steatotic liver disease. The PNPLA3 rs738409 GG genotype impairs adiponutrin function, accumulating triglyceride in liver cells and forming small fat droplets within the liver. Aim: To determine rs738409 and rs2896019 single nucleotide polymorphisms of the PNPLA3 gene in metabolic dysfunction-associated steatotic liver disease and their correlation with some parameters of anthropometric and laboratory tests. Materials and Methods: This study was conducted with a case-control design in 2023–2024. There were 150 participants in the study, 50 in the control group without MASLD, and 100 in the case group with MASLD. The PNPLA3 (rs738409, rs2896019) gene’s single nucleotide polymorphism was identified by the RFLP-PCR technique. All statistical analysis was performed using SPSS 23 software. Categorical variables were described by numbers and percentages, and the numerical variables were characterized by the median (min and max) for the normal distribution, and mean± standard deviation for the non-normal distribution. The statistical tests utilized were the Chi-square test, Fisher’s exact test, student t-test, and Mann–Whitney test. Ethical approval for the survey was obtained from the Medical Ethics Committee under the Ministry of Health Of Mongolia in January 2023. Results: The participants’ average age was 46.73±11.45, with 60% being women (90) and 40% being men (60). Among all patients, the PNPLA3 gene’s single nucleotide polymorphism rs738409 revealed 44.7% (67) CC, 54.7% (82) GC, and 0.7% (1) GG (OR-CG+GG genotype- 2.9, p=0.003). In addition, as a result of determining the PNPLA3 gene rs2896019 single nucleotide polymorphism, the frequency of the TT genotype was significantly higher in the control group than in the case group (48%, 31%, p = 0.042). Conclusion The frequency of CG/GG genotypes rs738409, and rs2896019 of the PNPLA3 gene is higher in the case group, suggesting that they may be more susceptible to MASLD.

Background: Serum natriuretic peptide (NT-proBNP) is a critical biomarker for diagnosing left ventricular dysfunction. Heart failure is the leading cause of mortality in chronic kidney disease (CKD), emphasizing the need for its early detection and prognosis. Objective: This study aimed to determine the serum NT-proBNP levels in participants with CKD and establish a cut-off value for predicting heart failure. Methods: A descriptive cross-sectional study was conducted from April 1 to July 1,2024. This study received approval from the Ethics Committee of the Institute of Medical Sciences (Approval No.24/01). A total of 117 CKD patients hospitalized in the Nephrology and Endocrinology Department of the third state hospital were enrolled based on predefined inclusion and exclusion criteria. Data were collected using questionnaires, laboratory and heart ultrasound test results. Serum NT-proBNP levels were measured using a rapid immunofluorescence quantitative analyzer. Data were analyzed with SPSS 26.0. Results: The mean age of the 117 participants was 57.9 ± 14.7 years, with 51.3% being male. The mean serum NT-proBNP level was 7686 ± 12149 pg/mL. Statistically significant differences were observed in serum creatinine, sodium, calcium, CKD stage, and arterial hypertension between genders (p<0.05). NT-proBNP levels in hemodialysis patients differed significantly between heart failure and non-heart failure groups (p<0.05). Significant differences were also found in hemoglobin, serum albumin, NT-proBNP levels, and CKD stages (p<0.05). NT-proBNP correlated significantly with risk factors such as hemodialysis, diabetes, and decreased systolic blood pressure (p<0.0001). A weak inverse relationship was noted between systolic blood pressure and NT-proBNP (R² = 0.16). The NT-proBNP cut-off value for predicting heart failure was 3027 pg/mL, with an AUC of 61.7% (sensitivity: 74.5%, specificity: 55%). Conclusion Serum NT-proBNP levels are elevated in CKD patients regardless of heart failure. The established cut-off value for NT-proBNP in CKD patients to detect heart failure was 3027 pg/mL, with moderate diagnostic utility (AUC = 61.7%).

Background: In 2022, the World Health Organization (WHO) reported that globally, 2.5 billion (43%) of adults aged 18 and older were overweight, with 890 million (16%) of these individuals classified as living with obesity. Some genes such as the FTO gene are strongly associated with obesity and overweigh. The FTO protein is crucial in regulating food consumption, appetite, energy equilibrium, and expenditure. Aim: The identify single nucleotide polymorphisms rs9939609 and rs17817449 of the FTO gene, which are associated with obesity, and to study their correlation with antropometric measurements and some laboratory test parameters. Materials and Methods: According to the inclusion and exclusion criteria, 50 obese (BMI >30 kg/m²) were included in the case group, and 50 relatively healthy and normal weight (BMI 18.5-24.9 kg/m²) were enrolled in the control group, for a total of 100 people matched for age and gender (1:1). We took physical measurements and collected peripheral blood samples after obtaining informed consent from each participant. Laboratory analyses assessed some parameters of lipid and glucose metabolism. We used the PCR-RFLP technique on two genotype SNPs. A p-value below 0.05 was considered a statistically significant result. Results: In this study, including 100 people aged 23 to 75, the mean age was 46.81±11.54 years, with 60% being female. In terms of antropometric measurements, body mass index, waist circumference, and arterial pressure were markedly elevated in the case group compared to the control group (p<0.001). In laboratory measures, fasting blood glucose, cholesterol, and mean LDL mean levels were statistically significantly higher in the case group compared to the control group. On the other hand, HDL cholesterol levels were lower in the case group compared to the control group. The FTO gene rs9939609 single nucleotide polymorphism was identified in 62% of the total study individuals as TT, 35% as AT, and 3% as AA genotypes. Also, FTO gene rs17817449 single nucleotide polymorphism was identified in 62% of the total study individuals as TT, 33% as AT, and 5% as AA genotypes. Conclusion The rs9939609 AT/AA genotype of the FTO gene elevates the risk of obesity and is associated with increased body weight, waist circumference, and BMI.