Toxicity evaluation and initial characterization of the venom of a Colombian Latrodectus sp.

The genus Latrodectus has not been studied in Colombia even though it is medically important worldwide; there are three species for the country, this study focused on a non-identified species found in the Tatacoa Desert in the Huila Department. This research is the first approximation to the extraction, composition analysis and toxicity evaluation of the venom of a species of the genus Latrodectus in Colombia; and aims to evaluate the toxicity by the initial characterization of its venom. The venom extraction was accomplished with electrostimulation and total protein concentration was determined by the Lowry method and BCA assays from crude venom; with these methods, high protein concentration of the samples was measured.

Identification of mutations in Colombian patients affected with Fabry disease.

Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling.

Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.

Background: Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans. MPS II has significant allelic heterogeneity, making the establishment of genotype-phenotype correlations difficult.

Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Lysosomal storage disorders (LSDs) are a very heterogeneous group of hereditary disorders. The diagnostic process usually involves complex sampling, processing, testing, and validation procedures, performed by specialized laboratories only, which causes great limitations in reaching a diagnosis for patients affected by these diseases.There are few studies about LSDs in Colombia.

Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia.

Introduction: Gaucher disease is caused by a deficiency of the enzyme acid beta-glucosidase. There is treatment available, but given the wide variability in phenotypes, it is difficult to establish the adequate administration and change of doses. Chitotriosidase and angiotensin converting enzyme (ACE) have been described as reliable biomarkers for the monitoring of patients.