Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients.

Can apparent diffusion coefficient values help distinguish between different types of pediatric brain tumors?

Rationale And Objectives: Classifying brain tumors is challenging, but recently developed imaging techniques offer the opportunity for neuroradiologists and neurosurgeons to diagnose, differentiate, and manage different types of brain tumors. Such advances will be reflected in improvements in patients' life expectancy and quality of life. Among the newest techniques, the apparent diffusion coefficient (ADC), which tracks the rate of microscopic water diffusion within tissues, has become a focus of investigation.