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: Small intestinal bacterial overgrowth (SIBO) is characterized by symptoms such as malabsorption, nutrient deficiencies, bloating, and abdominal pain. It can occur independently or in association with other gastrointestinal disorders. This study aims to determine the prevalence of SIBO in patients with digestive complaints, evaluate diagnostic outcomes, and analyze the composition and types of pathogenic bacteria present in the small intestine. Materials and Methods: A single-center, cross-sectional study was conducted at the Mongolian-Japanese Hospital, enrolling a total of 46 participants. SIBO was diagnosed using the hydrogen breath test (H₂BT) with lactulose/glucose as substrates. Among the 27 diagnosed cases, 5 patients were randomly selected for microbiological analysis of small intestinal contents. Results: SIBO was detected in 58.7% of the study participants. Among the 5 patients who underwent microbiological analysis, 80% (4/5) tested positive for pathogenic bacteria. The identified pathogens included: Gram-positive bacteria: Staphylococcus aureus (S. aureus); Gram-negative bacteria: Klebsiella pneumoniae (K. pneumoniae); Antibiotic-resistant bacteria: Methicillin-resistant Staphylococcus aureus (MRSA); Fungi: Candida albicans (C. albicans). The remaining 20% (1/5) had a baseline H₂BT value exceeding twice the standard threshold despite no detected pathogens. Conclusion SIBO is highly prevalent among patients with digestive complaints and may be associated not only with bacterial infections but also fungal overgrowth. Therefore, a multidisciplinary treatment approach, including antibiotics, dietary modifications, probiotics, and antifungal therapy, is necessary. While the hydrogen breath test is an effective diagnostic tool for SIBO, standardization of diagnostic protocols is required for improved accuracy.

Backround Peutz–Jeghers (PJ) syndrome is a rare autosomal dominant disorder characterized by a mucocutaneous pigmentationon on oral mucosa and multiple hamartomatous polyps located in the digestive tract except esophagus. PJ syndrome can be diagnosed in early childhood by a characteristic pigmentation and family history of polyposis. However, it is often diagnosed first as a polyp in the small intestine that causes obstruction and intussusception and is often treated with a bowel resection. If diagnosed in young childhood, an effective non-invasive method is to resect the polyps by tying off the blood supply to the polyps, that is the method named ischemic polypectomy, before they grow to the point of obstruction using a endoscopy. PJ syndrome is rare in Mongolia, but in severe cases, small intestine polyps are treated only surgically. Double-balloon-endoscopy (DBE) has been performed at the Mongolian- Japanese Hospital since 2023, making it possible to diagnose and treat the syndrome endoscopically. Our patient, a 15-year-old boy, had a mucocutaneous pigmentation that had been previously undiagnosed and was first diagnosed with intussusception at the age of 13. He had undergone 4 endoscopic procedures for upper and lower gastrointestinal polyps at the National Center for Maternal and Child Health successfully. In our hospital, we found endoscopically multiple hamartomatous polyps of various sizes between 1-3 cm, and a 3 mm diameter tumor that filled 3/4 of the intestinal lumen was treated by ischemic polypectomy. After the procedure, there were no early or late complications related to the procedure. The child's condition improved, the main complaints subsided, and he continues his daily life normally. However, follow-up DBE is required.

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%).