Introduction: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an uncommon X-linked genetic condition marked by euvolemic hyponatremia, which arises from a gain-of-function mutation in the arginine vasopressin receptor type 2 (AVPR2) gene. In contrast to the classic syndrome of inappropriate antidiuretic hormone secretion (SIADH), NSIAD is characterized by urine that is inappropriately concentrated even when arginine vasopressin (AVP) levels are low or undetectable. Failure to recognize NSIAD may result in recurrent hyponatremia and neurological morbidity. Case: A 2-year-old male was referred to us after recurrent vomiting and subsequently developed generalized tonicclonic seizures due to hyponatremia (with a sodium level of 115 mmol/L). He needed sodium replacement through an intravenous drip of 3% saline and was stabilized with oral sodium chloride 20%. Urine osmolality was elevated, serum osmolality remained normal, and copeptin levels were low. He was discharged after a 10-day hospital stay. During follow-up, hyponatremia recurred despite his typical fluid intake of 1,200 mL/day. He was instructed to limit his fluid intake to 600–700 mL, which successfully normalized his serum sodium levels. Serum levels of adrenocorticotropic hormone, the aldosterone-to-renin ratio, thyroid function tests, and serum cortisol were all within normal ranges. Plasma AVP was unusually low (4.0 pmol/L). Whole exome sequencing (WES) confirmed a likely pathogenic hemizygous variant in AVPR2 gene located on chromosome Xq28, which was inherited from his mother. He is the only child, born from a non-consanguineous marriage, with no other significant family medical history. Conclusion Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), is an uncommon, yet clinically significant condition. This case highlights the importance of considering a broad range of differential diagnoses when a patient presents with hyponatremic seizure. Furthermore, obtaining a detailed family history is essential to identify potential hereditary factors that could contribute to the condition and for genetic counseling.
Child ; Nephrogenic Syndrome of Inappropriate Antidiuresis

Introduction: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with dysregulation of genes on chromosome 11p15.5. Infants with BWS can present with hyperinsulinemic hypoglycemia. There are also distinctive clinical features including macrosomia, macroglossia and visceromegaly that may raise suspicion of this diagnosis. Case: A preterm female infant of 30 weeks gestation with a birth weight of 1.87 kg (97th centile) had recurrent hypoglycemia in the neonatal period, requiring escalation to a maximum glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia only resolved after starting intravenous glucagon infusion. Critical sampling during hypoglycemia revealed serum insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L, cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL. These findings supported the diagnosis of non-ketotic hyperinsulinemic hypoglycemia. She was commenced on oral diazoxide with resolution of hypoglycemia and discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly and ballotable kidneys. An initial US abdomen at birth revealed bilateral enlarged kidneys but normal liver. An initial chromosomal study revealed karyotype 46, XX. Over time, additional clinical features became evident fulfilling the diagnostic criteria for BWS, that is, polyhydramnios, large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi, bilateral ear creases, hepatomegaly and ballotable kidney. A repeat US abdomen surveillance at 4 months old revealed a heterogeneous liver mass with marked vascularity, prompting a diagnosis of hepatic hemangioma. She was commenced on oral propranolol, with reduction in the size and vascularity of the liver hemangioma and decline in alpha-fetoprotein levels. Conclusion The clinical features of BWS may not be recognizable in a preterm baby in early neonatal period. Careful clinical examination should be done in a baby with persistent hyperinsulinemic hypoglycemia for underlying syndromal causes. US surveillance should also be carried out due to increased risk of hepatoblastoma or liver hemangioma in BWS, as was seen in this case.
Infant, Newborn ; Infant ; Beckwith-Wiedemann Syndrome ; Infant, Premature ; Hypoglycemia

Background: Plants of the genus Achillea are widely used in both traditional and modern medicine and are known to be rich in biologically active secondary metabolites. Numerous phytochemical and histochemical studies have been con ducted on Achillea millefolium L.; however, Achillea asiatica Serg., which is widely distributed in Mongolia, remains comparatively underexplored. Therefore, investigating the distribution of biologically active compounds, the content of polyphenolic compounds, and the optimal extraction conditions of this species is of significant scientific and practical importance. Aim: The aim of this study was to identify biologically active compounds in Achillea asiatica Serg. using histochemical methods, to determine the content of polyphenolic compounds and optimal extraction conditions, and to evaluate the total and internal absorption coefficients of the plant raw material. Materials and Methods: The aerial parts of Achillea asiatica Serg. were collected in August 2025 from Erdene soum, Tuv province, Mongolia. Histochemical analysis was performed on transverse stem sections and flower petals using potassium dichromate, ferric chloride (III), methylene blue, Lugol’s iodine, and Dragendorff’s reagent, followed by ob servation under a light microscope. The total polyphenolic content was determined using the Folin–Ciocalteu method and expressed as gallic acid equivalents. Extraction experiments were conducted using powdered plant material sieved to par ticle sizes of 1, 2, and 3 mm and extracted with 20–80% ethanol. In addition, the total and internal absorption coefficients of the plant material were determined according to standard procedures. Results: Histochemical analysis revealed the presence of essential oils, polyphenolic compounds (tannins and flavo noids), and starch, while alkaloids were not detected. Polyphenolic compounds were observed in both stems and flow ers, with more pronounced accumulation in the vascular tissues. The highest total polyphenolic content (0.421%) was obtained from the 1 mm particle-size fraction extracted with 70–80% ethanol. Using 60% ethanol, the total absorption coefficient of the plant material was determined to be 5.74, and the internal absorption coefficient was 1.885. Conclution Achillea asiatica Serg. is rich in polyphenolic compounds, and their anatomical distribution is closely as sociated with the plant’s protective and biological functions. The use of 1 mm particle-size material and 70–80% ethanol was identified as the most suitable condition for extracting polyphenolic compounds. These findings provide a scientific basis for the standardization of Achillea asiatica Serg. as a medicinal and phytopharmaceutical raw material and support its further pharmacognostic and phytochemical investigation.

Background: Traditional medicine has long utilized herbal and animal-derived materials worldwide, and traditional formulations for the management of male sexual dysfunction continue to be actively investigated. This study aimed to investigate the chemical composition and antioxidant effects of Anti-Impotence-4, an herbal–animal formulation, in an experimental model of chronic stress-induced erectile dysfunction (ED). Aim: To investigate the bioactive compounds present in the plant- and animal-derived formulation Anti-Impotence-4 and its effects against oxidative stress. Materials and Methods: Fifty-eight male Wistar rats were randomly divided into six groups, including healthy control, disease control, reference, and treatment groups. Chronic stress was induced once daily for 56 days using a random stress protocol, as described by Peng Zou (2019). Oxidative stress parameters were determined using ELISA. The chemical constituents of the methanolic extract of Anti-Impotence-4 were analyzed using ultra-performance liquid chromatogra phy–mass spectrometry (UPLC–MS) in both positive and negative ionization modes. Results: In an experimental model of erectile dysfunction induced by chronic stress, treatment with Anti-Impotence-4 led to a dose-dependent attenuation of oxidative damage. Specifically, levels of the DNA oxidation marker 8-hydroxy-2′-de oxyguanosine (8-OHdG) were reduced by 13.3–32.5% following administration of Anti-Impotence-4 at doses of 42, 84, and 210 mg/kg. Likewise, malondialdehyde (MDA) concentrations decreased by 7.9–23.7% at therapeutic doses (p<0.05). In contrast, antioxidant defense mechanisms were markedly enhanced, as evidenced by significant increases in superoxide dismutase (SOD) activity (34.1%, 38.1%, and 44.6%, respectively; p<0.05) and glutathione (GSH) levels, which rose by 37.0–55.4%. Biological substances identified a total of 10 compounds, including six amino acids, flavo noids, and iridoids, in the positive ion mode. In negative-ion mode, 18 bioactive compounds were detected, including amino acids, carbohydrates, organic acids, fatty acids, flavonoids, and phenolic compounds. Conclusion Phytochemical analysis of the methanolic extract of the Anti-Impotence-4 formulation demonstrated the presence of diverse bioactive constituents, including amino acids, purine derivatives, nucleosides, carbohydrates, organic and fatty acids, flavonoids, phenolic compounds, and iridoids. In a chronic stress-induced erectile dysfunction model, treatment with Anti-Impotence-4 significantly enhanced antioxidant defense by increasing superoxide dismutase and glutathione levels, while markedly reducing oxidative stress markers such as 8-hydroxy-2′-deoxyguanosine and malond ialdehe indicating significant antioxidant and protective effects.

Background: In atopic dermatitis, impairment of the skin barrier function leads to increased susceptibility to environ mental particles and pollutants, thereby contributing to disease pathogenesis and complications, as well as to an increased risk of fungal skin infections. In children with atopic dermatitis, infections caused by Candida species exacerbate the dis ease and reduce the effectiveness of treatment. Candida species are common opportunistic pathogens colonizing the skin and mucosal surfaces, and more than 200 species have been described. Among these, Candida albicans, C. glabrata, C. parapsilosis, C. tropicalis, and C. krusei are most frequently isolated from the skin, mucosa, and oral cavity. In Mongolia, studies culturing skin fungi and determining their metabolic activity and virulence factors are limited, which constituted the rationale for the present study. Aim: To determine virulence factors and selected biochemical activities of Candida species. Materials and Methods: In this study, Candida species strains cultured from clinical samples of children with atopic der matitis were used with research approval. The fungal strains preserved at –80°C were revived by culturing on Sabouraud Chloramphenicol Agar and evaluated microscopically after Gram staining. Biofilm-forming activity was determined us ing the microtiter plate method, in which cultures were grown in broth, optical density was measured using a microplate reader, and values were calculated using a standard formula. Phospholipase activity was assessed using egg yolk agar according to the method developed by Price et al. Results: Of the total cultured isolates, 54.1% (n=33) demonstrated weak biofilm-forming activity (≤ODc / ODc < ~ ≤2×ODc), while 32.79% (n=20) showed moderate biofilm-forming activity (2×ODc < ~ ≤4×ODc). Isolates exhibiting strong biofilm-forming activity (>4×ODc) accounted for 13.1% (n =8) Regarding phospholipase activity, 50% of the isolates showed strong activity, 30% showed moderate activity, 10% showed low activity, and 10% exhibited very weak activity. Conclusions 1. Virulent fungal strains capable of attaching to host cells are involved in the pathogenesis of atopic dermatitis. 2. Atopic dermatitis is shown to contain fungal strains that damage host cells and are involved in the process of inva sion.

Background: Skin wounds can occur for many reasons, including UV radiation, mechanical burns, trauma, and chronic inflammation caused by metabolic factors. In Mongolia, as of 2022, household burns were the top 5 causes of injuries, the leading cause of injuries in children aged 0-5, and accounted for 18.4% of all illnesses in children aged 0-5. Skin burns and wounds take a long time to heal, which causes emotional, aesthetic, and economic stress for doctors. Developing in novative, effective, and low-side effects therapeutic products to improve wound healing is of great clinical and economic importance. The lack of research on the effects of bacterial metabolites and aloe vera (Aloe barbadensis Miller) on burn wounds was the basis for our research. Aim: To determine the effects of a mixture of bacterial metabolites and aloe vera on burn wounds in experimental animals. Materials and Methods: Eight-week-old BALB/c mice were divided into three groups: control group, bacterial metabo lite group, and aloe vera group. The mice were anesthetized, and the dorsal hair was shaved over a 2×2 cm area using an electric clipper. A second-degree burn wound model was created by exposing the shaved dorsal skin to hot air at 200°C for 10 seconds. A total of 100 μL of a bacterial metabolite suspension mixed with aloe vera at a 1:1 ratio was applied evenly to the center of the wound. Wound images were captured daily, and wound areas were measured using ImageJ software. Healing was evaluated on days 7, 14, and 21 of treatment and compared with the control group. The initial wound size was defined as 100%, and wound closure percentages were calculated accordingly. Burn skin tissues from both experimen tal and control groups were subjected to immunofluorescence staining for the vascular marker α-SMA (Thermo Fisher Scientific). Statistical analysis: The differences between the control and experimental groups were analyzed using an independent t-test using GraphPad Prism 10 software, and the mean, standard deviation, and statistical correlation were calculated. Results: The effect of the mixture of bacterial metabolites and aloe vera (Aloe barbadensis Miller) on the healing of burn wounds in experimental mice was compared with the control group. The wound size at 7 days was 82.1% in the control group and 83.7% in the experimental group (p<0.197), at 14 days was 62.6% in the control group and 58.1% in the exper imental group (p<0.0001), at 21 days was 50.7% in the control group and 32.7% in the experimental group (p<0.0001). No statistically significant difference in wound healing was observed between the groups at day 7; however, significant differences were observed at days 14 and 21. Immunofluorescence analysis revealed uniform expression of α-SMA-pos itive cells in the experimental group at 7, 14, and 21 days of treatment, whereas α-SMA expression was not detected in the control group. Conclusion The combination of bacterial metabolites and aloe vera promotes wound healing in experimental mouse burn wounds.

Background: Hemophilia is a congenital bleeding disorder caused by a lack of clotting factor in the blood. Hemophilia A, B, and C are caused by congenital deficiencies of clotting factors VIII, IX, and IX which are involved in thrombin generation of intrinsic coagulation pathway. Hemophilia A and B is a recessive X-linked congenital bleeding disorder but hemophilia C is typically inherited in an autosomal recessive, these are rare inherited coagulation disorders. This study was conducted based on the lack of database on the epidemiology, clinical type and severity in hemophilia in Mongolia. Aim: The aim of this study was to investigate the relationship between clotting factor levels and bleeding severity of hemophilia. Materials and Methods: A cross sectional study included a total of 30 patients with hemophilia who were registered from May to October 2025 at the Comprehensive Hemophilia Center, MNUMS. The study was approved by the Research Ethics Committee of MNUMS. Result: In this study 30 patients with hemophilia mean age was 18.4±15.7 years, and 96.7% were male. When categorized by age group, 13.4% (n=4) were under 4 years, 40% (n=12) were 5–13 years, 10% (n=3) were 14–18 years, 33.3% (n=10) were 19–44 years, and 3.3% (n=1) were over 45 years. Of the total cases, 83.3% (n=25) had Hemophilia A and 16.7% (n=5) had Hemophilia B. Of the total case, 80% of cases were classified as severe and 20% as moderate hemophilia. Additionally, 40% of cases had joint complications. Conclusion Joint bleeding was observed in 41.6% of patients with severe hemophilia and in 33.3% of those with moderate hemophilia. Target joint damage was found in 40% of the study population because 86.6% of patients were not able to receive prophylactic factor replacement therapy. Joint damage, joint deformities, reduced range of motion, and deterioration in quality of life were all adverse outcomes related to the early onset of joint bleeding.

Background: Primary dysmenorrhea is the most prevalent gynecological complaint among women of reproductive age, often manifesting as intense cramping pain in the lower abdomen during menstruation. Although pharmaceutical interventions such as nonsteroidal anti-inflammatory drugs (NSAIDs) and oral contraceptives are commonly used to manage symptoms, their temporary effects and frequent side effects, including gastrointestinal issues and hormonal imbalances, limit long-term use. As a result, there is growing interest in complementary and alternative therapies. Huolongguan moxibustion, a traditional Chinese medical technique involving the burning of mugwort (Artemisia vulgaris) near specific acupoints, is believed to enhance energy (qi) flow, promote blood circulation, reduce pain, and restore the balance of body functions. Aim: This study aims to investigate the clinical effectiveness of moxibustion in alleviating menstrual pain and improving overall well-being in patients with primary dysmenorrhea. Additionally, the study seeks to evaluate the feasibility and relevance of applying this traditional technique within contemporary medical practice. Materials and Methods: The study used a non-randomized clinical trial, double-blind, placebo-controlled design with treatment (n=30) and control (n=30) groups. Pain intensity will be assessed using the Visual Analogue Scale (VAS), while quality of life will be measured using the EQ-5D questionnaire. Psychological status, including anxiety and depression levels, will be evaluated using Cox mentrual symptom scale (CMSS). Data will be collected at baseline and post-treatment, followed by statistical analysis to determine treatment efficacy. Result: In the experimental group that received sealed cupping moxibustion therapy, the COX score decreased by approximately 99% after 3 months compared with the baseline value, whereas in the control group it decreased by approximately 27%. In addition, the VAS and EQ-5D-5L scores in the experimental group showed a statistically significant reduction as the duration of treatment increased (P<0.001), indicating that sealed cupping moxibustion therapy effectively reduced pain and related symptoms. Conclusion The results of this study demonstrate that cupping moxibustion therapy significantly reduces pain and associated symptoms in patients with primary dysmenorrhea and improves their quality of life. The therapeutic effect increased with longer treatment duration, and the outcomes in the experimental group were significantly better than those in the control group. Therefore, cupping moxibustion therapy may be considered an effective traditional therapeutic approach for the management of primary dysmenorrhea.

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: According to classical sources of Traditional Mongolian Medicine, the Mana-4 decoction clears internal heat and fever, alleviates febrile and infectious diseases, resolves pale-brown Badgan disorders, and alleviates severe pneumonia. Chimedragchaa.Ch. et al. (2002) demonstrated that Mana-4 possesses heat-clearing, anti-inflammatory, and immunomodulatory effects. Chronic Fatigue Syndrome (CFS) is a disorder characterized by clinical manifestations including physical exhaustion, low-grade fever, headache, mood fluctuations, cognitive impairment, and sleep disturbances. In recent years, as the pace of modern life and workload have increased, physical, psychological, and mental stress have intensified, leading to dysregulation of the nervous and endocrine systems, impaired immune function, and a rising global prevalence of CFS—a trend that has attracted increasing attention from researchers worldwide. However, the etiology and pathogenesis of CFS remain incompletely understood, and effective, evidence-based treatments continue to be sought. Therefore, we developed Immunoflu soluble granules, derived from the constituents of Mana-4, and this study aimed to investigate its anti-fatigue effects, as no such investigation had previously been conducted. Aim: To evaluate the anti-fatigue effect of Immunoflu, a formulation derived from the traditional Mana-4 decoction widely used in Traditional Mongolian Medicine. Materials and Methods: A chronic-fatigue rat model was established by forced-swimming induction, following the method of Jia Wang et al. (2013). The behavioral effects of Immunoflu were assessed using the open-field test (locomotor activity) and the elevated plus-maze test (anxiety-related behavior). Result: Immunoflu was administered at 100, 200, and 400 mg/kg to evaluate its effects in a chronic-fatigue model. In the open-field test, no significant difference (p>0.05) in central-zone entries was observed between Immunoflu and the model control. However, vertical locomotor activity increased significantly: Immunal 50 mg/kg +80.4% (p=0.024), Immunoflu 100 mg/kg +82.6% (p=0.003), and 200 mg/kg +77.4% (p=0.035). From these findings, Immunoflu at 100 and 200 mg/kg clearly enhanced locomotor activity in rats with chronic fatigue. In the elevated plus-maze test, Immunal 50 mg/kg increased the time spent in the central zone (10×10cm) by 53.3% (p=0.021) and in open arms by 61.4% (p=0.032) compared with the model control. Although Immunoflu produced no significant changes (p>0.05) in central-zone entries or time spent in the central zone, the time spent in the open arms increased by 60.6% at 200 mg/kg (p=0.026), indicating a reduction in anxiety and improved behavioral response to stress. Conclusion In a forced-swimming–induced chronic-fatigue model, Immunoflu increased locomotor activity by 77.4–82.6% at 100 and 200 mg/kg, reduced anxiety by 60.6% at 200 mg/kg, and reduced behavioral despair and fatigue by 35.3% at 100 mg/kg.