Pathophysiology of Pain and Mechanisms of Neuromodulation: A Narrative Review (A Neuron Project).

Pain serves as a vital innate defense mechanism that can significantly impact an individual's quality of life. Understanding the physiological effects of pain well plays an important role in developing novel pain treatments. Nociceptor neurons play a key role in pain and inflammation.

The Identification of Large Rearrangements Involving Intron 2 of the Gene in Negative and Breast Cancer Susceptibility.

E-cadherin, a gene product, is a calcium-dependent cell-cell adhesion molecule playing a critical role in the establishment of epithelial architecture, maintenance of cell polarity, and differentiation. Germline pathogenic variants in the gene are associated with hereditary diffuse gastric cancer (HDGC), and large rearrangements in the gene are now being reported as well. Because pathogenic variants could be associated with breast cancer (BC) susceptibility, rearrangements could also impact it.

A novel variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Background: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the gene are the causative genetic anomaly for the syndrome, with, however, no evident genotype-phenotype correlation.

A rare homozygous p.Arg87Trp variant of the gene in Gaucher disease: A case report.

Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the gene in the Tunisian population.