Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.
View Article and Find Full Text PDFIntroduction: The discovery of the Duffy antigen is of great significance, given its essential role in immune response and various physiological processes. Genetic mutations in the Duffy gene not only affect antigen expression but also result in different antigen types. This underscores the importance of genetic characterization for clinical studies and exploring genetic diversity within the population.
View Article and Find Full Text PDFSince December 2019, an outbreak of coronavirus disease 2019 (COVID-19) in Wuhan, China, has spread throughout the world. Coagulation dysfunction is one of the major causes of death in patients with severe COVID-19. Several recent observations in Algeria and elsewhere maintain that a pulmonary embolism is frequent in patients with COVID-19 with a high incidence in intensive care.
View Article and Find Full Text PDFThe demographic history of human populations in North Africa has been characterized by complex processes of admixture and isolation that have modeled its current gene pool. Diverse genetic ancestral components with different origins (autochthonous, European, Middle Eastern, and sub-Saharan) and genetic heterogeneity in the region have been described. In this complex genetic landscape, Algeria, the largest country in Africa, has been poorly covered, with most of the studies using a single Algerian sample.
View Article and Find Full Text PDFObjective: There is strong evidence that genetic as well as environmental factors affect the development of periodontitis. Various studies suggest that genetic polymorphisms of the interleukin-1 (IL-1) genes are associated with an increased risk of developing the pathogenesis. The aim of the present study was to investigate the possible relationship between two polymorphisms of IL-1 gene cluster IL-1B (C+3954T) (rs1143634) and IL-1A (C-889T) (rs1800587) SNPs and the aggressive and chronic periodontitis risk in a case control study in Algerian population.
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