Publications by authors named "Raju C Shah"
Article Synopsis
- Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
- This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
- The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
May 2024
Article Synopsis
- Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
- Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
- The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.
Vaccination is amongst the best strategies to improve child survival and reduce morbidity. Vaccines represent the most cost effective and simple intervention to protect against distressing epidemics. There are mortality and morbidity related benefits derived from preventing infectious diseases through vaccination; these include financial benefits by avoiding hospitalization, preventing long-term disability and increased productivity.
View Article and Find Full Text PDFChitotriosidase (ChT) is an enzyme that is selectively activated in tissue macrophage. This property of ChT makes it a potential marker for many disease process and prognostication. Present study has been carried out to know the significance of ChT as a screening marker in lysosomal storage disorders (LSDs) where tissue macrophage activation is commonly observed due to accumulation of substrate in various organs of the body.
View Article and Find Full Text PDFMedically inappropriate, ineffective and economically inefficient use of antimicrobials is commonly observed in the health care units throughout the world especially in the developing countries. Antimicrobial stewardship programs attempt to balance the demand for these life-saving drugs with the need to preserve their future efficacy. A comprehensive evidence-based stewardship program should include elements chosen from the recommendations based on local antimicrobials use and resistance problems and on available resources that may differ, depending on the size of the institution or clinical setting.
View Article and Find Full Text PDFPertussis still continues to cause significant morbidity and mortality worldwide. Because of the high reactogenicity of whole cell pertussis vaccine, it had evoked public controversy in several countries. In 1970 Japan abandoned use of whole cell pertussis vaccine and mounted efforts to develop better vaccine.
View Article and Find Full Text PDFThe usual treatment for empyema in children varies from a simple thoracocentesis to thoracotomy and open decortication. We studied the role of thoracoscopy in the management of empyema thoracis in 10 immunocompetent children after failure of medical management. All children recovered well with an early removal of intercostal tube and reduced postoperative hospital stay and showed complete resolution of empyema on follow up.
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