BACKGROUND. Spinal muscular atrophy (SMA MIM#253300) is a heterogeneous group of neuromuscular disorders caused by degeneration of anterior horn cells. Spinal muscular atrophy is the second most common autosomal recessive disorder. The first substantive descriptions of SMA occurred at the end of the 19th century when Werdnig and Hoffman characterized the features of autosomal recessive SMA. SMA is broadly classified into four major categories characterized by the age of onset as well as severity of the disease. Clinically proximal weakness, predominantly athropy, upper muscle athropy and other muscle weakness including of facial, scapula and respiratory were reported. SMA is inherited by X chromosomal, autosomal recessive and dominant mode. In our study, we recruited an individual diagnosed with SMA, without SMN1 gene mutation to investigate BICD2 mutation. Peripherial blood from the patient and his family members were taken to extract genomic DNA according to commercial protocol. Amplification of target gene was done by special primers. DNA sequencing was done to detect a mutation. As a result, we identified a mutation in location c.484 C>T of third exon of BICD2 gene. This mutation is was a heterozygous in mother’ and child’ DNA, SIFT and Polyphen program was used to detect its pathogenic effect. We also checked by Grantham matrix score is 180.0 representing it,s changing acid and alkaline feature in this amino acid. We diagnoses a suspected case with SMA by his clinical symptoms as a SMA type III, Kugelberg-Belander desease. We detected a mutation of BICD2 gene in a patient with SMA. This mutation altered acid and alkaline checked by Grantham matrix. This mutation has never reported before, showing 100% pathogenic effect on protein function, but because of highly penetrate feature of this disease makes its inheritance mode of autosomal dominant pattern.

Background: Studies from other countries have identified multiple contributing factors to renal cell carcinoma (RCC). We conducted this study to investigate the relationship between RCC and certain risk factors among the Mongolian population. Aim: To identify the risk factors for renal cell carcinoma in Mongolian individuals. Material and Methods: This case-control study included 88 patients diagnosed with RCC (confirmed by pathological examination) in the case group. The control group consisted of 88 healthy individuals matched by age and gender. A case-control study design was used. Binary logistic regression analysis was conducted on the questionnaire results from both groups to identify risk factors for RCC through both univariate and multivariate regression analysis. Results: A total of 176 participants were included in the study-88 with RCC and 88 without cancer. Statistically significant associations with RCC were found for hypertension, urinary tract diseases, alcohol consumption, and smoking. Although weight gain appeared to increase the risk for RCC, this was not statistically significant. Conclusion Individuals with hypertension, a history of urinary tract diseases, smokers, and alcohol users are at a higher risk of developing renal cell carcinoma.

Background: Accreditation of healthcare institutions serves as a fundamental mechanism for ensuring patient safety and validating the quality of medical services provided to the population. At Intermed Hospital, a quality measurement system for healthcare services has been established since 2015, encompassing 126 quality indicators at both institutional and departmental levels. This system facilitates continuous quality improvement efforts. In this context, quality indicators specific to the endoscopy department play a pivotal role in objectively assessing the quality of endoscopic services. Aim: To assess the quality indicators in gastrointestinal endoscopy unit. Materials and Methods: A retrospective single-center study was conducted by collecting data from the Intermed hospital’s electronic information systems which included HIS and PACS and Quality and Safety Department’s Database and the results were processed using the SPSS software. Ethical approval was granted by the Intermed hospital’s Scientific research committee. The quality of endoscopic services in the Intermed hospital was assessed based on: a) the average values of four quality indicators measured monthly; b) sample survey data from five categories of quality indicators. Results : Between 2016 and 2024, the quality indicators of the endoscopy unit measured as the level of early warning score evaluations for patients was 95.97%±3.33, the level of cases where peripheral blood oxygen saturation decreased during sedation was 1.54%±3.78, the level of cases where patients experienced paradoxiical response during sedation was 5.82%±1.75, surveillance culturing level for validation of endoscopy reprocessing was 11.6%. The endoscopic documentation quality by peer review showed 95.7-100%, the colonoscopy quality indicators were followings as adenoma detection rate: 24.5% Cecal intubation rate: 99.1%, 95.2%, Colonoscope withdrawal average time: 13.28±10.62 minutes, Bowel preparation quality (Boston Scale): 89.3% 95.7%), patient discharge from the recovery room, Average discharge time post-procedure: With propofol alone: 30.92 minutes; With propofol and fentanyl combined: 31.52 minutes, The intermediate risk was 0.28% by the TROOPS evaluation during procedural sedation. Conclusion The quality benchmark levels for these endoscopic units, as determined by a single-center study, can be effectively implemented by benchmark endoscopy centers to enhance their quality and safety operations.