Background: Chronic kidney disease (CKD) is a major global public health problem, affecting more than 10% of the world’s population, over 850 million people worldwide. Protein-energy wasting (PEW), which is observed in 28–54% of patients undergoing hemodialysis, is closely associated with reduced muscle mass and has been shown to double the risk of mortality within 5 years. Chronic inflammation and hemodynamic instability during hemodialysis are considered key mechanisms contributing to muscle mass loss in CKD. Aim: To determine muscle mass and the intensity of inflammatory response in hemodialysis patients, and evaluate their association Materials and Methods: Skeletal muscle mass (SMM) was assessed after hemodialysis using bioelectrical impedance analysis (InBody 770, USA). The skeletal muscle mass index (SMMI) was calculated as muscle mass (kg) divided by height squared (m²). Blood samples were obtained from the participants prior to hemodialysis, and the intensity of the inflammatory response was assessed using the level of C-reactive protein (CRP) and the CRP-to-albumin ratio (CRP/Alb). In addition, based on complete blood count parameters, the neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-lymphocyte ratio (PLR), as well as the systemic immune–inflammation index (SII), systemic inflammation response index (SIRI), and aggregate index of systemic inflammation (AISI) were calculated and evaluated. Results: A total of 128 hemodialysis patients were enrolled, including 50.8% males and 49.2% females, with a mean age of 55.37±14.87 years. No statistically significant differences in SMM (F=2.22, p=0.113) or SMMI (F=7.47, p=0.48) were observed across age groups. However, when stratified by duration of hemodialysis (≤3 years vs >3 years), independent samples t-test demonstrated significant differences in both SMM (26.2±5.2 vs 22.8±4.4; t=2.645, p=0.009) and SMMI (24.9±10.2 vs 22.9±9.7; t=3.020, p=0.003). Pearson correlation analysis showed that SMMI was significantly inversely correlated with CRP (r=−0.368, p<0.0001), MLR (r=−0.321, p<0.0001), SIRI (r=−0.210, p=0.02), AISI (r=−0.252, p=0.004), and CRP/Alb (r=−0.260, p=0.003). Conclusion In hemodialysis patients, increased inflammatory response intensity was associated with reduced skeletal muscle mass and may represent one of the underlying pathophysiological mechanisms (SMMI vs. CRP, r=−0.368, p<0.0001; SMMI vs. MLR, r=−0.321, p<0.0001; SMMI vs. SIRI, r =−0.210, p=0.02; SMMI vs. AISI, r=−0.252, p=0.004; SMMI vs. CRP/Alb, r=−0.260, p=0.003).

Background: Colorectal cancer (CRC) is one of the leading causes of cancer-related morbidity and mortality worldwide and develops through the accumulation of genetic alterations involving multiple genes. In Mongolia, the substantial burden of CRC, limited treatment options, and scarcity of studies investigating its molecular genetic characteristics highlight the need to improve molecular diagnostics and expand personalized treatment options. Aim: To identify genetic variants in tumor tissues from patients with CRC and compare them with variants detected in matched adjacent normal tissues. Materials and Methods: This cross-sectional study was conducted between August 2023 and May 2024 in collaboration with the National Cancer Center of Mongolia, the Mongolian Institute of Human Genetics, and Happy Veritas Hospital. Eleven patients who underwent surgical treatment for CRC at the Department of General Surgery were enrolled. Paired tumor and adjacent normal tissue samples were collected from each patient and analyzed. Targeted next-generation sequencing (NGS) was performed using the MGISEQ-200 platform, covering 2,881 targeted positions across 53 cancer-associated genes. Sequencing data were processed through a bioinformatics pipeline involving quality control, alignment to the reference genome, variant calling, and filtering. BWA-MEM, GATK Mutect2, and Variant Effect Predictor (VEP) were used to identify and annotate genetic variants. Variants were comparatively evaluated according to their occurrence in tumor and adjacent normal tissues, potential functional consequences, and clinical significance. Results: A total of 60 genetic variant observations were identified across 11 paired CRC and adjacent normal tissue samples, including 56 single-nucleotide variants (SNVs; 93.3%) and four insertions or deletions (INDELs; 6.7%). Of these, 36 observations (60.0%) were recorded in tumor tissues and 24 (40.0%) in adjacent normal tissues. Eleven amino acid-altering variants were identified in tumor tissues. Variants in PDGFRA (90.9%), TP53 (54.5%), APC (36.4%), PTEN (27.3%), KIT (18.2%), and KRAS (9.1%) were detected in tumor tissues. The frequencies of variants in PDGFRA, TP53, and PTEN were higher in tumor tissues than in adjacent normal tissues, although the differences were not statistically significant (p > 0.05; FDR ≥ 0.75). Variants detected in APC, KRAS, TP53, PTEN, and MLH1 were associated with molecular pathways involved in colorectal carcinogenesis, including Wnt/β-catenin, MAPK, p53, PI3K–AKT–mTOR, and DNA mismatch repair pathways. The KRAS p.Gly13Asp (G13D) variant was identified as a clinically relevant alteration for evaluating response to anti-EGFR targeted therapy. Conclusion Variants in PDGFRA, TP53, and PTEN were more frequently observed in CRC tissues than in adjacent normal tissues; however, the differences were not statistically significant. Variants in KRAS, KIT, and CDKN2A were detected exclusively in tumor tissues. The KRAS p.Gly13Asp variant may have clinical relevance in evaluating the selection of anti-EGFR targeted therapy.

Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Background: Cardiovascular disease (CVD) is currently the leading cause of morbidity and mortality worldwide. CVD risk increases significantly even in the early stages of chronic kidney disease (CKD) and CVD deaths account for more than half of all known causes of death in patients with end stage renal disease. Cardiovascular risk factors such as hypertension, anemia, hyperphosphatemia, volume overload and uremic toxins usually occur when eGFR is below 60 ml/min/1.73m2, while the subclinical atherosclerosis starts to develop in early stages of CKD. Serum N-terminal pro B type netriuretic peptide (NT-proBNP) is important for predicting subclinical heart failure in patients with CKD. Methods: Plasma NT-proBNP concentrations were measured in 37 patients with CKD (mean age = 54 years, female 48.6%). Renal function was assessed by estimated glomerular filtration rate (eGFR; ml/min/1.73m2) and the subjects were classified into five stages of CKD. Pearson correlation analysis was used to analyze he relationship between renal function and serum NT-proBNP levels. Results: The mean serum NT-proBNP level was in CKD stage I ( <50pg/ml, p<0.0001), CKD stage II (64.86±21.79 pg/ml, p<0.0001), CKD stage III(119.56±158.1pg/ml, p<0.0001), CKD stage IV (5801.8±7213.7 pg/ml, p<0.0001), CKDstage V (6993.1±9029.9 pg/ml l, p<0.0001). Serum NT-proBNP level was inversely correlated significantly with eGFR (r = -0.464, р = 0.004). Conclusion Our findings indicate the circulating levels of NT-proBNP increased with deteriorating kidney function and these values were highest in patients with CKD IV and CKD V stages.

In United States, person is diagnosed with blood cancer in every 3 minutes. In 2015, there were 1.665.540 total cancer cases and 9.4% of them lymphoma and leukemia . In 2015, there were 95 cases of lymphoma in Mongolia when compared 4 times increase to 2015 from 2010 . Bone marrow examination is an established diagnostic modality in the evaluation of various hematological disorders. BM examination can serve to establish or confirm a primary diagnosis of lymphoma or to determine the extent of disease dissemination for staging purposes. Biopsy is essential for diagnosis in a dry tap or blood tap which occurs when the marrow is fibrotic or densely cellular. Only a biopsy allows a complete assessment of marrow architecture and pattern of distribution of any abnormal infiltrates. In 2015.01-2016.01 fifty five bone marrow biopsies were retrieved from the files of the National First Clinical Hospital-Department of Hematology. These all statistical analysis was performed using by SPSS 17. Bone marrow processing and staining: The hematologist is instructed to place the freshly obtained BMTB specimens directly into buffer substance fixative and transport it immediately to the histopathology department, on the same day as the procedure.The next morning (after 20–24 h), the solution is decanted (with a strainer) and the biopsy specimen is washed in distilled water for 30 min. The biopsy specimens are left to decalcify for about 6 h before being processed and embedded in paraffin wax, with procedures similar as for other specimens.Sections, 1-mm thick (microtome set for 1 mm sections), are cut from the paraffin-wax blocks with the routine rotary microtomes in the laboratoryA total of 55 cases were reviewed from December 2014 to November 2015. The age of the subjects ranged from twenty two years to seventy eigth years with a male predominance (1.7:1). Data of 55 trephine biopsies were reviewed. The percentage of trephine biopsies in different length ranges was calculated. Twenty two biopsieswere of recommended length, i.e., ≥1.5 Cm while remaining 33 were less than the recommended length. The rate of positivity for diagnosis was 95.4% in group-1, 94.1% in group-2, 63.6% in group-3 and 40% in group-4 In all cases in our study 73% (n=40) were satisfactory and 27%(n=15) unsatisfactory slides .Our study showed that 40% trephan biopsies were of revommended length i.e >=1.5cm with 95.4% positive of diagnosis. However biopsies measuring 1-1.4 cm also had comparable result 94.1% .

Ectopic pregnancy (EP) is a life – threatening emergency, and a significant cause of maternal morbidity and mortality in Ulan – Bator. The aim of this research was to determine and evaluate the incidence, risk factors and treatment of ectopic pregnancies at The First Maternity Hospital in Ulan – Bator.This was a retrospective, descriptive study of EP’s managed in The First Maternity Hospital during the study period 2013, 2014.The medical records of the patients managed for ectopic pregnancy as well as the total birth record and gynecological admission records during the period under review were retrieved, and data were collected with the aid of data-entry forms designed for this purpose. There were 46.147 gynecological admissions and 28.744 deliveries, with 870 cases of ectopic pregnancies. A total 863 cases were suitable for analysis. The relevant collected data were analyzed with SPSS Version 20.0 for windows.Ectopic pregnancies constituted in 3.9% of all gynecological admissions.Majority of patients were in 25-29years age group (64.1%). The average age of patients was 30 +/- 6 years. In 83.8% of patients had previous abortions, inflammatory disease was the most frequent risk factors.521(60.3%) patients were treated surgically while the 342(39.6%) remain patients received conservative treatment.The incidence of ectopic pregnancy increased by 0.8%, which is comparable between 2013(2.5%), 2014(3.3%). In our study the number percentage of organ preserving treatment, such as tubostomy and conservative – treatment by methotrexate increased significantly.

The research on the smoking habits among 8th-to-12th grade students of schools was conducted using a random sampling method among the 13-18 years old school students.Materials and MethodsThe research was performed using a combination of both qualitative and quantitative methods. The quantitative part of the research was performed by conducting surveys among randomly selected secondary school students according to prepared and approved questionnaires. The qualitative study was performed by organizing focus groups based on prepared discussion guidelines. Sampling: the survey participants were students in grades 8-12 from both public and private schools in Ulaanbaatar, the capital city of Mongolia. A total of 1190 students from the 12 secondary schools of 6 districts were selected through random sampling.Resultsto the question of whether the participants have tried to smoke once or twice, 36,1% (407) responded positively. Among these respondents, 49.6% (272) are male and 23.2 (135) are female. This confirms the statistical data that male students are more exposed to the habit of smoking than female students (x2=57.8, p<0.01). The percentage of the currently smoking students is 11.2% (77) of whom 17.9% are male and 4.8% are female. Of the current smokers, 6.8% smoke every day (x2=48.3, p<0.01). The average age of taking up smoking was 14.0[±1.8] of which males students began using tobacco at 13.9[±1.8] years and females at 14.3[±1.6]. Among the smoking students, 10[±2.1]% were from public schools and 17.3[±2.8]% were from private schools (x2=8.1, p<0.01).

Introduction Worldwide, numerous studies have been conducted and many papers have been published about the impact of climate change on human health, and the correlations between air temperature, precipitation, droughts, and floods, and their adverse health effects such as respiratory and water-borne diseases. Scientific evidence on this issue continues to mount, showing that the effects of climate change are mostly adverse to human health. In Mongolia however, scientific research on the effects of climate change on health is at its starting point and only a few studies have been conducted. Goal Determine and assess risk factors and effects of climate change on human health Materials and Methods The study area included Zavkhan, Selenge, Dornod, Umnugovi aimags (provinces) and Ulaanbaatar city, each representing one of the five climatic zones of Mongolia. Daily meteorological variables for temperature, atmospheric pressure, wind speed, highest wind speed, precipitation and relative humidity of the selected study sites from 2009 to 2011 were acquired from the Institute of Meteorology, Hydrology and Environmental Monitoring. Statistical analysis of the collected data was done using the SPSS18 program and 95%CI was used to determine inter-zonal differences of weather and climatic variables. Results In order to determine climate risk factors, the analysis used the number of days when temperature exceeded mean annual air temperature by +25°С/-25°С, and their sequences, the number of days when the absolute temperature exceeded +30°С in summer months, and -30°С in winter months, and their sequences, the number of days when daily fluctuations in atmospheric pressure exceeded 30 hPa and the number of days when relative humidity was lower than 30 percent or greater than 80 percent, and their percentage of the total number of days.

Background: High blood pressure is both a cause and a complication of chronic kidney disease. As complication, high blood pressure may develop early during course of chronic kidney disease and is associated with adverse outcomes, in particular faster loss of kidney function and development of cardiovascular disease. The purpose of this study is early detection of chronic kidney disease in patients with hypertension by defining the prevalence of microalbuminuria.Methods: The study population consisted of 169 subjects with a hypertension. Individuals were considered to have hypertension if the blood pressure measured greater than 140/90 mmHg or if they were taking blood pressure lowering medications. Microalbuminuria was defined as 20 mg/l or greater. Results: We are presenting data on 169 subjects :male 38 (22.5%) female 131 (77.5%), average age 51.6±0.89 At screening, 14.8% of all participants were smokers, 62.1 % engaged in low levels of physical activity, 72.8% - were having tea with salt (table1). Microalbuminuria and renal failure, as GFR<60 ml/ min/1.73 m2, were documented in 34.3% and 16.6% of subjects, respectively. There is positive correlation between MAU and increasing-range of blood pressure (table2). Correlation was found between albuminuria and GFR(r= -0.2 p<0.01) and serum creatinine(r=0.31 p<0.01) the regression result has shown that GFR is associated with MAU and serum creatinine (table 3).Conclusions:1. In 34.3% of patient with hypertension was found nephropathies with MAU2. Microalbuminuria is increased with decline of GFR and raise of systolic blood pressure. GFR decline is with the raise of age and serum. It is important to implement in clinical practice screening of MAU hypertensive patients.3. In 2/3 of all screened subjects was found 1 and more risk factors for CVD.