Faculty of Anatomy

CTLA‐4 Gene Polymorphism in Pediatric Type 1 Diabetes Mellitus: A Case–Control Study

2026-08-05T11:28:33Z

CTLA‐4 Gene Polymorphism in Pediatric Type 1 Diabetes Mellitus: A Case–Control Study Thammineni Aniketh, Raghavendra Gobbur, Gurushantappa S. Kadakol Objective: To analyze the relationship between CTLA‐4 (+49A/G) polymorphism and pediatric type 1 diabetes mellitus (T1DM). Materials and Methods: The observational case–control study was done for 18 months in 44 children (1–16 years of age), 22 of whom had T1DM and 22 controls, were included. CTLA‐4 (+49A/G) gene polymorphism was analyzed using polymerase chain reaction‐restriction fragment length polymorphism and validated by Sanger sequencing. Various clinical, anthropometric, and biochemistry variables were documented. Results: The cases and controls were similar in terms of age, gender distribution, family history of diabetes, and consanguinity. The average hemoglobin A1c values were higher in case groups compared to controls (12.41% ±3.09% vs. 4.21 ± 0.5%; P < 0.001). The CTLA4 (+49A/G) gene showed higher frequencies of the G/G genotype in cases compared to controls(54.55% vs. 22.73%; P = 0.030), whereas A/A was found to be higher in controls (P = 0.014). The frequency of the G allele in cases (0.66) was higher than in controls (0.32). The G/G genotype showed higher prevalence in the case group at a younger age, and siblings of offspring showed clustering of the G/G genotype. Conclusion: In particular, the G/G genotype of the CTLA‐4 + 49A/G polymorphism was found to be significantly associated with T1DM in children and to influence the age of onset.

Mutation Analysis of Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia Patients in North Karnataka Population

2026-08-05T11:15:18Z

Mutation Analysis of Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia Patients in North Karnataka Population Shweta Mathapati, Darshana Shah, S V Patil, Prachi Parvatikar, Gurushantappa Kadakol Introduction: Beta-thalassemia is among the most frequent monogenic disorders around the globe. Over 100,000 children worldwide require regular transfusion due to beta-thalassemia, with India accounting for about 10% of cases ana a carrier rate of 5-17%. The disorder is caused by mutations in the beta-globin (HBB) gene, especially in exon 3, which affects beta-globin production and leads to sever anemia. Genetic testing is crucial for prenatal diagnosis, carrier screening, and counseling to manage and prevent the disease. Material and Methods: The study was conducted on 47 beta-thalassemia patients aged 6 months to 18 years, with ethical approval. After informed consent, 1ml blood sample were collected. DNA was extracted using the Kit, and Primers targeting exon 3 of the HBB gene were design. PCR amplification was performed with specific cycling conditions, and products verified by gel electrophoresis. Results: Sequencing identified a likely benign homozygous intronic variant g.5511G>C (rs107686883). Mutation analysis in 47 patients revealed heterozygous mutations g.5401G>A. Conclusion: Missense mutations, especially G>T transition, were common in HBB exon 3 of thalassemia major patients. Molecular screening and genetic counseling are vital to reduce disease impact. G>A mutation caused severe early disease, G>T moderate severity, and compound heterozygosity showed intermediate symptoms.

Sustainable Fabrication of Onion-Peel Biogenic Silica Nanoparticles for Multimodal Characterization and In Vitro Bioactivity Profiling

2026-08-05T11:01:37Z

Sustainable Fabrication of Onion-Peel Biogenic Silica Nanoparticles for Multimodal Characterization and In Vitro Bioactivity Profiling Sphoorty Hungund, Raghunandan Deshpande, Arun K. Shettar, Gurushantappa Kadakol Abstract: Introduction: This study aims to develop a sustainable method for synthesizing Biogenic Silica Nanoparticles (bSNPs) from onion peel waste and evaluate their physicochemical properties and in vitro bioactivity. Methods: Biogenic Silica Nanoparticles (bSNPs) were prepared via an optimized acid–base sol–gel method and characterized by SEM, EDX, AFM, FTIR, and XRD. Antioxidant activity (DPPH as- say), anti-inflammatory activity (protein denaturation), and DNA interaction (agarose gel) were as- sessed in vitro. Results: Biogenic Silica Nanoparticles (bSNPs) exhibited nanoscale dimensions (~120–125 nm) with spheroidal morphology and rough surface characteristics. FTIR and XRD confirmed amor- phous silica. Dose-dependent antioxidant and anti-inflammatory activity, as well as DNA binding, were observed. Discussions: Biogenic Silica Nanoparticles (bSNPs) were synthesized from onion peel biomass via a two-acid sol–gel process. Spectroscopic and crystallographic analyses confirmed the successful synthesis of homogeneous amorphous silica. bSNPs exhibited effective biomolecular interactions. Conclusion: Onion peel-derived bSNPs are durable, environmentally friendly nanomaterials with promising antioxidant, anti-inflammatory, and DNA-binding potential for biomedical applications.

Consumption of hyperlipidemic diet and water intake in albino rats treated with eclipta alba.

2024-02-10T11:09:40Z

Consumption of hyperlipidemic diet and water intake in albino rats treated with eclipta alba. Satheesh Naik K, Ramanath B, Bheemshetty S Patil, Sadhu Lokanadham.