Showing posts with label genetic disorder. Show all posts
Showing posts with label genetic disorder. Show all posts

Saturday, 1 March 2025

Gene Therapy: Examining the Current Progress | Chapter 3 | Achievements and Challenges of Medicine and Medical Science Vol. 9

In the past few years, the genetic field has achieved a fast pace in clinical research and trials. The research and various studies have indicated the future of human genotype to emerge as the new genetic world from the present nascent one. Gene therapy is the replacement of a defective gene with a normal gene constituent. Several methods for this have emerged and many more are evolving. Genetic involvement in the association of life on earth was found more than a century ago, but its implication in the medical field has been possible just a few years earlier. Still, gene therapy is in its very nascent stage and various experiments are going on. Availability of gene therapy for mass population with feasibility and safety can be made by the medical fraternity keeping patients till the time when research and trials in the genetic field will approve for it. This review will help in understanding the recent gene therapy trials which indicate the forthcoming era of the human genome and their applicability in overcoming the hurdles in treatments of various genetic disorders. The study concluded that gene therapy is not only helpful for the treatment of genetic disorders but also as an adjuvant for other regimens like chemotherapy for cancers etc. Therefore, a close watch on ongoing research and trials in the genetic field in search of better options for treating various disorders in human beings is necessary.

 

Author (s) Details

 

Sachin Phoolchand Yadav
Department of Anatomy, Grant Govt. Medical College and Sir J.J. Group of Hospitals, Mumbai- 400008, Maharashtra, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/acmms/v9/3396

Saturday, 11 September 2021

Demographic, Clinical, and Radiographic Characteristics of Neurocutaneous Syndrome-Tuberous Sclerosis Complex | Chapter 18 | Issues and Development in Health Research Vol. 3

 Little is known about the prevalence, incidence, and features of tuberous sclerosis complex patients.


Tuberous sclerosis complex is a multisystem genetic disease. It's an autosomal disorder that affects several organs. Multiple hamartomas grow in a variety of organs, including the brain, kidneys, skin, uterus, and liver. Mutations in the TSC1 or TSC2 genes, which code for hamartin and tuberin, respectively, cause it. TSC is diagnosed utilising diagnostic criteria that are based on clinical and imaging data. Patients with TSC should be screened and monitored on a regular basis to establish the presence and extent of organ involvement, particularly in the brain, kidneys, and lungs, as well as the development of related problems. Because the treatment is organ-specific, imaging is critical in the care of TSC patients.

We present a 50-year-old woman with tuberous sclerosis complex who had facial angiofibromas, bilateral kidney angiomyolipomas, subependymal nodules, and a subependymal giant cell astrocytoma. The study's goal is to describe clinical and radiological findings in a patient with multiple hamartomas in various organ systems.

Author (S) Details

V. Nikam
Department of Anatomy, D.Y. Patil Medical College, India.

M. Shettennavar
S.M Diagnostic and Research Centre, India.

S. Babanagar
Department of Radiodiagnosis, D.Y. Patil Medical College, India.

View Book :- https://stm.bookpi.org/IDHR-V3/article/view/3312