Gayatri Gawade Maindad

Abstract

The Rapunzel syndrome is the usually name given to the trichobezoar related condition in which there is extension of tail of trichobezoar from its origin to the distant location. Trichobezoar is the rare clinical entity found usually in the pediatric population and young females with underlying psychiatric condition. There is huge collection of undigested materials like hairs, threads, etc. leading to various clinical complications if not diagnosed and removed on time. Hypoproteinemia is a rare presentation of complication of this Rapunzel syndrome due to protein losing enteropathy. We encountered with the case of hypoproteinemia giving clue to the diagnosis of Rapunzel syndrome.   Keywords: Rapunzel Syndrome, Trichobezoar, Hypoproteinemia.

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Abstract

Despite the various advances made in the diagnosis and treatments, the incidence of the neurodegenerative diseases has increased manifold during the last few decades. The inadequate early diagnosis appears to be the main reason behind the significant increase in the number of neurodegenerative diseases and their poor prognosis. Next generation sequencing has been discovered as an effective and indicative tool, especially for chronic and severe neurological illnesses, such as Parkinson and Alzheimer. As a clinical apparatus, next generation sequencing will help in creating explicit hereditary focuses for the treatment of neurodegenerative diseases and finding new diagnostic biomarkers. Next-generation sequencing has been demonstrated to be increasingly productive, practical and utilizes molecular determination, which determines biomarkers and different targets quicker and efficiently than the other established diagnostic methods. There is a desperate requirement to change the current treatment and medication regimes in order to make better prognosis for the patients. This can be accomplished by utilizing customized drug to treat neurodegenerative diseases and using next generation sequencing with personal medicine as the method for specialized treatment of the patients suffering from neurodegenerative disorders.   Keywords: Neurodegenerative diseases, Personalized medicine, Next generation sequencing (NGS), Diagnosis, Biomarkers.

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