A5010709416- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Cardiac, Anesthesia and Surgical Outcomes
- Biochemical and Molecular Research
- Diet and metabolism studies
- Hip and Femur Fractures
- Extracellular vesicles in disease
- Sleep and related disorders
- Cholinesterase and Neurodegenerative Diseases
- Gut microbiota and health
- CRISPR and Genetic Engineering
- Cardiomyopathy and Myosin Studies
- Nanomaterials for catalytic reactions
- Muscle Physiology and Disorders
- Advanced Photocatalysis Techniques
- Neurological diseases and metabolism
- Mitochondrial Function and Pathology
- Protein Degradation and Inhibitors
- Pigment Synthesis and Properties
- Healthcare cost, quality, practices
- Neurogenetic and Muscular Disorders Research
- Lung Cancer Research Studies
- Cancer, Hypoxia, and Metabolism
- Medicinal Plants and Neuroprotection
- Genetic Neurodegenerative Diseases
Stellenbosch University
2023-2024
University of Cape Town
2023-2024
National Academy of Sciences India
2020
Guntur Medical College
2018
NRI Medical College
2018
Abstract This article provides an overview of the photoelectrochemistry nano-catalysts, their advantages, mechanisms, and interactions between nanostructures reactivity. The applications nanomaterials in various processes, such as dye degradation, toxicity elimination, HER, CO 2 RR, OER were found paramount. types catalysis, including homogeneous, heterogeneous, enzymatic, photocatalysis, photo electrocatalysis, elucidate significance, unique are also included. Advanced catalysts, from...
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
This study proposes an advanced machine learning (ML) framework for breast cancer diagnostics by integrating transcriptomic profiling with optimized feature selection and classification techniques. A dataset of 1759 samples (987 patients, 772 healthy controls) was analyzed using Recursive Feature Elimination, Boruta, ElasticNet selection. Dimensionality reduction techniques, including Non-Negative Matrix Factorization (NMF), Autoencoders, transformer-based embeddings (BioBERT, DNABERT), were...
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring electron transfer flavoprotein-ubiquinone oxidoreductase gene ( ETFDH) . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part International Centre Genomic Medicine Neuromuscular Diseases study, we recruited a cohort patients diagnosed...
Introduction Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) mainly aimed at the most frequent genes underlying genetic neuropathy (GN) spastic ataxias Europeans. In this study, we used next-generation sequencing to screen 61 probands with GN, hereditary paraplegia (HSP), a diagnosis. Methods After identifying four GN PMP22 duplication one ataxia proband SCA1, remaining underwent whole exome ( n = 26) or genome 30)....
Abstract Introduction Structural variants (SVs) of the nebulin gene ( NEB ), including intragenic duplications, deletions, and copy number variation triplicate region, are an established cause recessively inherited nemaline myopathies related neuromuscular disorders. Large deletions have been shown to dominantly distal myopathies. Here we provide overview 35 families with muscle disorders caused by such SVs in . Methods Using custom Comparative Genomic Hybridization arrays, exome sequencing,...
Introduction: This study investigates the in situ fabrication, characterization, and photocatalytic efficiency of CeO2/Fe2O3 core-shell decorated reduced graphene oxide (rGO) nanocomposites for degrading organic pollutants. Materials Methods: All chemicals were analytical grade used without further purification. CeCl3.7H2O FeSO4.7H2O dissolved a 1:1 ratio 50 mL double-distilled water, followed by addition 0.1 M urea g as-prepared GO. The solution was ultra-sonicated 30 min, stirred 1 h, then...
Introduction: Intertrochanteric and femoral neck fractures account for nearly 90% of proximal femur fractures. It is customary to use 65 years age define the elderly. One year mortality in these elderly patients ranges from 12%-36%. The main objective this prospective study effect age, sex, co morbidities, delay surgery complications on outcome with identify optimal measures that can be taken improve patients. was presumed early within 48 hours after stabilization morbid conditions improves...
Methodology: It is prospective observational study consists of 22 adult patients Intracapsular fracture neck the femur, who are treated with Bipolar hemiarthroplasty in NRI Medical College & general hospital, Guntur from 01-07-2017 to 31-06-2018.
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring ETFDH . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part ICGNMD study, we recruited a cohort patients diagnosed academic medical centres across SA over three-year period. The aim was to extensively profile clinical, biochemical,...