Background: Identifying pathogenic variants in the F8, F9 gene in patients with hemophilia A (HA) and Hemophilia B (HB) is crucial for improving genetic counseling, understanding genotype–phenotype correlations, assessing inhibitor risk, and establishing family-specific mutation profiles. Aim: To detect mutations in the F8 and F9 genes among people with hemophilia A and B diagnosed in Mongolia. Materials and Methods: Long-distance PCR were used to detect intron-22 and intron-1 inversions. Sanger sequencing identified nucleotide substitutions, deletion, and insertion in F8 and F9 gene. Result: Thirty-two male patients with HA (30 severe, one moderate, and one mild) from 27 unrelated families, eight patients with Hemophilia B were analyzed. Among 25 families with severe HA, pathogenic variants were found in 24 families (95.6%). Large structural rearrangements were detected in 22 patients from 19 families, including intron-22 inversion in 16 cases of 14 families, intron-1 inversion in four cases from three families, and two large deletions found in two unrelated families. In one severe case, no pathogenic variant was identified in the entire F8 gene. Small scale changes were identified in the remaining patients, including missense in three families and two frameshift variants, all associated with severe phenotype. We found novel c.2240del variant and classified as pathogenic. A known polymorphism (c.3864A>C) was identified in one patient with moderate HA, while a novel intronic deletion (c.1010-106delA) was detected in a patient with mild disease. Two families had a history of HB. A total of five different variants (c.223C>T; c.344A>G; c.464G>C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C>T (p.Arg75*) mutation was detected in two unrelated patients. Conclusion Intron-22 (56%) and intron-1 (12%) inversions were detected in families with severe HA. A novel c.2240del variant was also identified in association with a severe phenotype. The novel variants c.187_188del and c.1314_1314delA of F9 can cause severe Hemophilia B.

Background: Hemophilia A (HA) and hemophilia B (HB) are monogenic bleeding disorders caused by pathogenic variants in the F8 and F9 genes, respectively, which are located on the X chromosome and result in deficiencies of coagulation factor VIII (FVIII) and factor IX (FIX). The diseases predominantly affect males, while females are usually asymptomatic heterozygous carriers. Identification of female carriers among relatives of affected males is important for preventing bleeding complications associated with surgery and childbirth. Aim: The main aim of this study was to detect carrier and non-carrier women and compare some phenotypes. Materials and Methods: The study included 50 female relatives of 32 male patients diagnosed with hemophilia A and 13 female relatives of 8 male patients diagnosed with hemophilia B, giving a total of 63 female relatives. Molecular genetic testing was performed to identify the pathogenic variants previously detected in the probands and to determine the carrier status of female relatives. Among them, 33 confirmed carriers and 18 non-carriers completed a 28-item questionnaire comprising three sections to assess bleeding-related symptoms. The questionnaire evaluated easy bruising, duration of menstruation, postpartum bleeding, and bleeding following injuries, surgical procedures, and dental procedures. Questionnaire findings were compared between molecularly confirmed carriers and non-carriers. Continuous variables were compared using the Mann–Whitney U test, while categorical variables were analyzed using Fisher’s exact test in R software. In female relatives of patients with hemophilia A, plasma FVIII activity was also measured. Result: Molecular genetic testing was performed in 52 female relatives. Eleven women were excluded from carrier-status analysis because no pathogenic variant was identified in the F8 or F9 gene of their respective probands. Among 43 female relatives of patients with hemophilia A who underwent carrier testing, 26 (60.4%) were identified as carriers and 17 (39.5%) as non-carriers. Among eight male patients with hemophilia B, pathogenic F9 variants were identified in six; among their seven female relatives, six were confirmed carriers and one was a non-carrier. The mean FVIII activity among heterozygous HA carriers was 58.5±20.6 IU/dL (n=17), which was significantly lower than that of non-carriers (101±28.8 IU/dL; p<0.001). Of the nine bleeding-related symptoms assessed, only easy bruising of the skin was significantly more common among carriers (OR=6.8; p=0.0069). Although prolonged menstrual bleeding and bleeding after childbirth, surgery, or dental procedures were reported among some carriers, no statistically significant differences were observed between carriers and non-carriers. Conclusion Among female relatives of males diagnosed with Hemophilia A or B in Mongolia, 32 (64%) of 50 women were identified as carriers and 18 (36%) as non-carriers. Plasma FVIII activity was significantly lower in HA carriers than in non-carriers (58.5±20.6 IU/dL vs. 101±28.8 IU/dL; p<0.001). Easy bruising was significantly more frequent among carriers (OR=6.8; p=0.0069). These findings support the importance of molecular genetic testing for identifying female carriers and recognizing women who may be at increased risk of bleeding, particularly in the context of surgery and childbirth.

Background: Herbal teas are rich in bioactive compounds with antioxidant, anti-inflammatory, and hepatobiliary supportive properties. Despite their long-standing use in Mongolian traditional medicine for liver and gallbladder health, comprehensive scientific data regarding the specific chemical composition and antioxidant activities of these polyherbal formulations remain limited. Aim: To evaluate the bioactive compound content and antioxidant activity of a polyherbal tea formulation for supporting liver and gallbladder function, with a focus on the influence of solvent concentration. Materials and Methods: The study utilized a polyherbal tea consisting of five plant species: Achillea asiatica Serg., Thalictrum foetidum L., Zygophyllum potaninii Maxim., Tanacetum vulgare L., and Rheum undulatum L. Samples were extracted using 30% and 70% ethanol. Preliminary phytochemical screening was performed using thin-layer chromatography (TLC). Total phenolic content (TPC) was determined using the Folin-Ciocalteu method, and total flavonoid content (TFC) was measured via the AlCl3 colorimetric assay. Antioxidant capacity was assessed through DPPH, ABTS+ and FRAP assays. Results: Phytochemical screening identified flavonoid derivatives, glycosides, and terpenoids in both extracts, while alkaloids were not detected. Quantitative analysis showed that the 70% ethanolic extract contained significantly higher levels of total phenolics (5.518±0.24%) and total flavonoids (1.513±0.023) compared to the 30% extract (p < 0.05). The 70% extract also demonstrated superior antioxidant potency, with lower (IC50) values for DPPH (55.37 µg/mL) and ABTS (86.08 µg/mL). Additionally, the FRAP assay confirmed the 70% extract had substantially higher reducing power (1440.84 µM Fe²⁺/L). Conclusions 1. Phytochemical analysis confirmed that the polyherbal tea is primarily composed of flavonoid derivatives, glycosides, and terpenoids. The total phenolic and flavonoid contents in the 70% ethanolic extract were significantly higher (p < 0.05) than those in the 30% extract. 2. The free radical scavenging activity evaluated by DPPH (IC50) 55.37 µg/mL) and ABTS (IC50) 86.08 µg/mL) assays indicated that the 70% ethanolic extract possesses markedly stronger antioxidant activity compared to the 30% extract. 3. The iron ion reducing power (FRAP: 1440.84 µM/L) showed a concentration-dependent linear relationship. The positive correlation between polyphenol content and antioxidant activity confirms that this herbal formulation has a scientific basis for its traditional use in supporting liver and gallbladder function.

Background: Renal cell carcinoma (RCC) accounts for 85–90% of all primary renal malignancies in adults and 1–3% of all cancers worldwide, with incidence rising steadily year by year. Clear cell (ccRCC), papillary (pRCC), and chromophobe (chRCC) subtypes differ significantly in genetic alterations, biological behavior, and treatment response, making preoperative subtype identification clinically important. Conventional qualitative CT assessment is limited, and contrast-enhanced CT-based radiomics may represent a novel diagnostic approach. Aim: To develop a model for preoperative differentiation of ccRCC from non-ccRCC subtypes using contrast-enhanced CT-based radiomics, and to evaluate its diagnostic performance through internal and external validation. Materials and Methods: A retrospective study was conducted on 121 patients with histopathologically confirmed RCC treated at the Urology–Andrology Center of the First Central Hospital of Mongolia between 2021 and 2024. Patients were categorized into ccRCC (n=84) and non-ccRCC (n=37) groups. Tumor segmentation was performed on corticomedullary phase CT images using 3D Slicer software, and a total of 122 radiomic features were extracted, including first-order uniformity, gray-level co-occurrence matrix (GLCM), gray-level run-length matrix (GLRLM), shape flatness, and GLCM maximum probability. Diagnostic performance was assessed by ROC analysis, and model generalizability was evaluated through external validation (n=73). Results: GLRLM demonstrated a statistically significant difference between the ccRCC (mean 0.1230) and non-ccRCC (mean 0.0170) groups (p<0.001). ROC analysis yielded an optimal cut-off value of 0.1493 for GLRLM, with an internal validation AUC of 0.9103, sensitivity of 83.3%, and specificity of 92.3% (p<0.01). External validation (n=73) achieved an AUC of 0.860 and an accuracy of 86.0%, confirming the model’s generalizability. First-order uniformity (AUC=0.880) and variance (AUC=0.862) showed comparable discriminative performance to GLRLM, whereas flatness (AUC=0.584) and GLCM Imc2 (AUC=0.621) demonstrated relatively poor discriminative ability. Confusion matrix analysis yielded an accuracy of 86.0% in both internal and external validation cohorts. Conclusion Non-invasive CT-based radiomics demonstrates the ability to accurately differentiate RCC subtypes preoperatively with high precision (AUC=0.92), as confirmed by both internal and external validation.

Background: A rare angioproliferative condition of the larynx, Kaposhi sarcoma typically affects the skin. Immunosuppressive treatment following organ transplantation and human immunodeficiency virus infection are the causes. Every type of Kaposi sarcoma has human herpesvirus-8. Laryngeal kaposi sarcoma is uncommon in immunocompromised patients; since its initial identification in 1965, 18 cases have been documented globally. A CO2 laser-assisted laryngeal microsurgery is performed through the mouth cavity to remove tumor when kaposi sarcoma of the larynx obstructs the airway. Case report: A 77-year-old woman complained of hoarseness, dry mouth, odynophagia, and dysphagia three months prior when she arrived at the Mongolian-Japan Hospital. Two years ago, she acquired hard, sensitive lumps that were palpable on her right arm, left ankle, and right thigh. At that time, she was diagnosed with Kaposiform hemangiodermatitis and treated at the National Center for Dermatology. HIV test results were negative. Immunohistochemistry: CD31 +/-, CD34 /+/. Using flexible nasopharyngeal endoscopy to get the diagnosis: There was a mass that was about 1.5–2–5 cm in diameter, bluish in color, smooth and movable, and spongy and vascular on the larynx, on the nasopharynx, behind the palatine tonsills, and supraglottic. Surgery: Through the use of Kleinsasser laryngoscopy and a 0-degree endoscope, pathological tissues were extracted under general anesthesia using a laryngeal microsurgical instrument and a laparoscopic bipolar coagulator. The tissues were then sent for histological evaluation, which revealed Kaposi sarcoma, sarcoma grade 1. Results of treatment Pain decreased and quality of life increased following surgery. Upon nasopharyngeal endoscopy, the vocal cord mobility was normal and the surgical incision was clean. Conclusion: Kaposi sarcoma is an extremely uncommon illness. A lower quality of life and further issues can be avoided with an early diagnosis and suitable therapy. It also needs to be continuously monitored because it is a potentially repeatable disease.

Background: The ichthyosis is a hereditary skin disease and inherited by autosomal dominant, autosomal recessive and X recessive trait separately. The X-linked ichthyosis (XLI) is the most frequent cutaneous disease and general incidence accounts for one in 2000-5000 male births. Molecular pathogenesis of XLI is due to mutations, which are large deletion, missense, frame shift and nonsense in STS gene. The vast majority of mutation frequency is a large deletion, which are found in 85-90% of patients with XLI. An exon deletion of the STS can be detected by Polymerase chain reaction with exon specific primers. An identification of STS gene mutation has various importance such as 1) detection of mutation type; 2) for genetic counselling, 3) disease severity, 4) carrier detection. Methods: In the present study, pedigree analysis was used for type of inheritance, and Polymerase chain reaction was used to detect a deletion in STS gene and normal control used. A deletion was identified in case PCR bands were not visualized in agarose gels. Results: We included one patient, who had typical symptoms of XLI including dark, adherent scales on skin. Mutation analysis of the STS gene showed that the patient had whole gene deletion (del: Exon 1-10), which was demonstrated by the repeated amplification failure of exons. We used a sample of healthy man as a wild type control, which showed normal amplification of STS gene’s exons. Further, the current study will be focused on the screening of heterozygote large deletion of Del: Exon1-10 of STS gene among patient’s female relatives. Conclusion An ichthyosis case enrolled in this study was inherited by X-recessive and we identified whole exon deletion of STS gene in this patient.

Background: Approximately, 3.2 millions of children are born with congenital anomalies in worldwide annually which is equal to one case per each 33 live births. As for Mongolia, there are 2.7 congenital anomalies cases for each 1000 live births on average between 2005 and 2007, however, this number is increased up to 5.04 or doubled up for each 1000 live births in 2012 urging us to concern more on this public health issue. Objective: To determine the prevalence and incidence of the congenital anomalies among infants’ with 0-7 days registered in Mongolia. Materials and Methods: This study is conducted through descriptive analyses. Statistical analyses were conducted by using Stata13, MS excel, and ArcGIS software. Results: Total 669,579 women who gave a birth and 2,376 children with congenital anomalies data were used in this study between 2006 and 2016 in Mongolia. In 2006, there were 3.88 cases of congenital anomalies for each 1000 live births and this increased up to 6.44 cases by 2016. Taking into account the incidence of congenital anomalies by the organ systems, abnormality of circulatory systems were 24.5%, cleft lip and palate were 18.1% of the total cases, respectively. By its geographical patterns, the incidence of congenital anomalies were mostly reported in Orkhon, Gobi-Altai, Gobisumber and Tuv provinces while the least cases reported province was Bayan-Ulgii.
Mean maternal age who gave a birth children with congenital anomalies was 28±6.3 which was statistically significant different (p=0.001) than maternal age who gave a normal birth. In addition, there was high incidence of congenital anomalies among the maternal age groups of 35-44 and above 45 years old. Conclusion
1. Between 2006 and 2016, the incidence of congenital anomalies was increased around 1.7 times it is tended to increase steadily. Particularly, cases of congenital anomalies were occurred in cardiovascular, circulatory system, cleft lip and palates, skeletomuscular system, digestive and nervous systems.
2. Orkhon province had the highest incidence of congenital anomalies in our study. There was significant association (12% more than live births with normal weight) between congenital anomalies and child live birth with less than 2500 gr in weights. By gender, congenital anomalies were reported dominantly in boys and it was statistically significant. Case of congenital anomalies increases as the age of mother increases.

BACKGROUND. Hemophilia B is X-linked recessive genetic disorder, caused by missing or defective factor IX that results in bleeding longer after an injury or surgery, easy bruising, and an increased risk of bleeding inside joints or the brain. The disorder affects approximately one in 30 000 males worldwide and 18 cases were registered in Mongolia according to statistics of Hemophillia Federation of Mongolia. The annual cost of episodic treatment of an adult with severe hemophilia estimated at ≈53000 USD owing to high cost of treatment developing countries has been adopted to prevent and to forecast the risk of inhibitor. Materials and Methods: The objective of this research is to determine F9 mutations in patients with Hemophillia B in Mongolian population and to assess correlation between genotype and phenotype of disease. Characterization of mutations was performed by direct sequencing of genomic DNA using a Sanger sequencing method. Briefly, the exon or part of the exon deletion was checked and amplified by polymerase chain reaction (PCR). Results: We identified four point mutations and one deletion. No large exon deletion was found in PCR amplification result. As expected, the most common mutations responsible for the disease were point mutations. In general, this study revealed 5 different mutations in unrelated 7 proband and there is good correlation between the type of mutation (location in the amino acid position and domain in the protein) and their functional outcome, yielding a predictable clinical severity.

BACKGROUND. Head and neck cancers are related group of cancers that involve the oral cavity, pharynx (oropharynx, nasopharynx, hypopharynx), and larynx. Early-stage tumors of the upper aerodigestive tract can be cured; for late-stage disease, prognosis is poor. Nowadays microvascular free tissue transfer surgery performed at high level. Worldwide, this particular kind of operation in head and neck surgical field has become “golden standard” of treatment. Seemingly, plastic and reconstructive surgeons of developed countries widely perform forearm free flap, anteriolateral thigh free flap, fibula free flap, rectus abdominal free flap, latissimusdorsi free flap. We purpose to report our first 121 cases of Microvascular Free Tissue Transfer which had been performed at the head and neck surgical department, NCC of Mongolia. METHODS. The clinical records of first 121 cases patients who had microvascular reconstruction done between 2011 and 2017 were reviewed. The indications for surgery, choice of flap, duration of surgery and flap survival were noted. RESULTS. Our study were performed on 121 cases, among them 84.3% flaps were survived, most of defects occurred following cancer resection. Anterolateral thigh and radial forearm flaps were performed commonly for our reconstruction surgery. CONCLUSION. 84.3% free flap recorded success rate indicates our early experiences. Although the National Medical University do not have postgraduate reconstructive and plastic surgical training, we believe that meticulous planning, careful vessel selection, close flap monitoring as well as improved infrastructural support can lead us to much better success rates of microvascular reconstruction in our country.

Acceleration of emissions reductions in household coal stoves and modest improvements in other sectors, however, have the potential to considerably lower outdoor pollution and reduce total exposures to about 70% of those today (Scenario 1). Reducing total exposures closer to these international benchmark levels will require moving away from coal and wood as household fuels and even more control on other sources (Scenario 2). The first package of moderate control measures (Scenario 1) considered in this assessment will result in a slow decline in impacts(Figure) and a cumulative health savings over trends in 2013, but leave annual per capita health impacts only about 25% lower than today after ten years. A more aggressive set of control measures (Scenario 2), however, will result in more health protection over the period and reduce annual impacts by approximately 60% from current levels in 2025 . In terms of impact per capita,this would represent nearly a 70% reduction over the period taking population growth into account.