Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and COL4A5). Characterized by progressive loss of renal ...

ADAMTS proteins (disintegrins and metalloproteinases with thrombospondin motifs) have been associated with various biological processes including follicular development and ovulation. Some members are considered orphan ...

Cystic Fibrosis is the most common autosomic recessive disease in caucasic population. The incidence in Colombia is still unknown, but previous studies at Universidad del Rosario have shown that it is relatively high . ...

Background: In the year 2017, The American College of Medical Genetics and Genomics (ACMG) published the second version of their secondary findings reporting recommendations, for cases in which a person receives a genetic ...

Introduction: Lumbar disc herniation (LDH) and clinical syndrome secondary to radiculopathy are the majors causes of morbidity and costs in world public health, with an estimated incidence between 1% and 2% in the population ...

NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY INBETWEEN DEGENERATIVE DISEASES THAT AFFECT CEREBELLUM AND SPINE. THE PURPOSE OF THE SUBSEQUENT PAGES HAS TO BE WITH THE PATHOPHYSIOLOGY OF ...

Given the pathophysiology of the causative mycobacterium action, tuberculosis-TB is generally diagnosed late due to the slow progression of the infection and the delay in clinical manifestations, which is also very typical ...

Introduction: Breast cancer is a really common neoplasia in Colombia and this is an important problem to its public health system, for that reason it is important to tackle this disease above precepts of efficiency, quality ...