Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.

Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While both phenotypes are characterized by corneal opacities and different forms of dyslipidemia, such as low levels of high-density lipoprotein-cholesterol (HDL-C), FLD exhibits more severe clinical manifestations like splenomegaly, anemia, and renal failure. We describe the first clinically and genetically confirmed case of FLD in Colombia which corresponds to a 46-year-old woman with corneal opacity, hypothyroidism, and dyslipidemia, who does not have any manifestations of renal failure, with two pathogenic heterozygous missense variants in the LCAT gene: LCAT (NM_000229.2):c.803G>A (p.Arg268His) and LCAT (NM_000229.2):c.368G>C (p.Arg123Pro). In silico analysis of the mutations predicted the physicochemical properties of the mutated protein, causing instability and potentially decreased LCAT function. These compound mutations highlight the clinical heterogeneity of the phenotypes associated with LCAT gene mutations.

Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia.

Alleles in the VKORC1, CYP2C9, and CYP4F2 genes can influence Warfarin dose requirement. We aimed to determine the frequency of the polymorphisms in these genes in healthy individuals from Cali, Colombia. Observational study where total blood was collected from 107 healthy donors who attended a higher educational institution in Cali, Colombia. Sanger sequencing of exons 2, 3, 5, and 7 of the CYP2C9 gene; the common promoter region of CYP (rs12777823); exon 11 of CPY4F2 and the polymorphism c.-1639G > A in the VKORC1 gene promoter was performed. CYP2C9*2, CYP2C9*3, CYP2C9*8, CYP2C9*9, CYP2C9*11, CYP4F2*3, rs12777823, and VKORC1*2 were detected. The latter had the highest frequency with 80 (74.8%) participants in a heterozygous or homozygous state. The least frequent allele was CYP2C9*11 with only 1 carrier. Combined haplotypes (VKORC1 *1/*2 or *2/*2 and CYP2C9 *1/*2 or *2/*2) were identified in 14 (13.7%) subjects. Both frequencies found in the VKORC1 and CYP2C9 alleles were similar to the ones reported for Latin Americans of European and Native American Ancestry. VKORC1*2 allele, the main genetic contributor to Warfarin dosing requirement, was the variant with the highest frequency (74.8% subjects, with a frequency of the alternative allele (A) of 50%). Our findings provide researchers with a greater insight regarding the frequency of common polymorphisms that affect anticoagulation treatment in the Cali (Colombia) population.

Frequency of enteroparasites in Cebidae and Callitrichidae primates at the Zoológico de Cali, Colombia: zoonotic implications / [Frecuencia de enteroparásitos en primates Cebidae y Callitrichidae del Zoológico de Cali, Colombia: implicaciones zoonóticas].

Introduction: Enteroparasites can cause problems in animals kept under human care in zoos and shelters. Wild animals have low parasitic loads but when sheltered in closed places they can be higher and lead to clinical manifestations, which increases the cost of medical treatments and care. On the other hand, some enteroparasites can represent a potential risk of zoonotic infection for their animal keepers, visitors, and other zoo animals. In addition, they could affect recovery programs for endangered species. Objectives: To establish the presence and prevalence of potentially zoonotic enteroparasites in primates of the Cebidae and Callitrichidae families at the Zoológico de Cali from September to November, 2017. Materials and methods: We conducted a prospective cross-sectional study. Serial samples from 50 individuals belonging to seven species and two primate families were analyzed by ova and parasite test, flotation, and Kinyoun stain between September and November, 2017. Results: In order of frequency, the parasite genera found in the seven primate species evaluated were Blastocystis spp., Trichomonas spp., Giardia spp., Entamoeba spp., Strongyloides spp., Cyclospora sp., and Trichuris sp. Conclusions: At least six of the parasite genera found have potential zoonotic implications. It is necessary to establish what are the infection sources at the Zoológico de Cali and implement management protocols to reduce the risk of transmission to both humans and other animals in the collection. Additionally, we offer relevant information on the zoonotic potential of each of the enteroparasites found.

Introducción. Los enteroparásitos pueden generar problemas en animales bajo cuidado humano en zoológicos y centros de acogida. Los animales silvestres presentan bajas cargas parasitarias, pero estas pueden ser mayores y llevar a manifestaciones clínicas cuando se trata de animales resguardados en recintos, lo que aumenta los gastos en tratamientos y cuidados médicos. Por otro lado, algunos enteroparásitos pueden causar infecciones zoonóticas en los cuidadores, los visitantes y otros animales del zoológico, así como afectar los programas de recuperación de especies amenazadas de extinción. Objetivos. Determinar la presencia y prevalencia de enteroparásitos con potencial de transmisión zoonótica en primates de las familias Cebidae y Callitrichidae del Zoológico de Cali, entre septiembre y noviembre de 2017. Materiales y métodos. Se hizo un estudio transversal prospectivo, para lo cual se recolectaron muestras seriadas de 50 individuos pertenecientes a siete especies de dos familias de primates y se analizaron mediante examen coprológico, flotación y coloración Kinyoun, entre septiembre y noviembre de 2017. Resultados. Según su prevalencia, los géneros de parásitos hallados en las siete especies de primates evaluadas, fueron Blastocystis spp., Trichomonas spp., Giardia spp., Entamoeba spp., Strongyloides spp., Cyclospora sp. y Trichuris sp. Conclusiones. Por lo menos, seis de los géneros de parásitos identificados tienen implicaciones zoonóticas, lo cual hace necesario establecer las posibles vías de infección de los primates del Zoológico de Cali e implementar protocolos de manejo que reduzcan el riesgo de transmisión a los humanos y a otros animales de la colección. Además, se presenta la información relevante sobre el potencial zoonótico de los enteroparásitos hallados.

Frecuencia de enteroparásitos en primates Cebidae y Callitrichidae del Zoológico de Cali, Colombia: implicaciones zoonóticas / Frequency of enteroparasites in Cebidae and Callitrichidae primates at the Zoológico de Cali, Colombia: Zoonotic implications

Resumen | Introducción. Los enteroparásitos pueden generar problemas en animales bajo cuidado humano en zoológicos y centros de acogida. Los animales silvestres presentan bajas cargas parasitarias, pero estas pueden ser mayores y llevar a manifestaciones clínicas cuando se trata de animales resguardados en recintos, lo que aumenta los gastos en tratamientos y cuidados médicos. Por otro lado, algunos enteroparásitos pueden causar infecciones zoonóticas en los cuidadores, los visitantes y otros animales del zoológico, así como afectar los programas de recuperación de especies amenazadas de extinción. Objetivos. Determinar la presencia y prevalencia de enteroparásitos con potencial de transmisión zoonótica en primates de las familias Cebidae y Callitrichidae del Zoológico de Cali, entre septiembre y noviembre de 2017. Materiales y métodos. Se hizo un estudio transversal prospectivo, para lo cual se recolectaron muestras seriadas de 50 individuos pertenecientes a siete especies de dos familias de primates y se analizaron mediante examen coprológico, flotación y coloración Kinyoun, entre septiembre y noviembre de 2017. Resultados. Según su prevalencia, los géneros de parásitos hallados en las siete especies de primates evaluadas, fueron Blastocystis spp., Trichomonas spp., Giardia spp., Entamoeba spp., Strongyloides spp., Cyclospora sp. y Trichuris sp. Conclusiones. Por lo menos, seis de los géneros de parásitos identificados tienen implicaciones zoonóticas, lo cual hace necesario establecer las posibles vías de infección de los primates del Zoológico de Cali e implementar protocolos de manejo que reduzcan el riesgo de transmisión a los humanos y a otros animales de la colección. Además, se presenta la información relevante sobre el potencial zoonótico de los enteroparásitos hallados.

Abstract | Introduction: Enteroparasites can cause problems in animals kept under human care in zoos and shelters. Wild animals have low parasitic loads but when sheltered in closed places they can be higher and lead to clinical manifestations, which increases the cost of medical treatments and care. On the other hand, some enteroparasites can represent a potential risk of zoonotic infection for their animal keepers, visitors, and other zoo animals. In addition, they could affect recovery programs for endangered species. Objectives: To establish the presence and prevalence of potentially zoonotic enteroparasites in primates of the Cebidae and Callitrichidae families at the Zoológico de Cali from September to November, 2017. Materials and methods: We conducted a prospective cross-sectional study. Serial samples from 50 individuals belonging to seven species and two primate families were analyzed by ova and parasite test, flotation, and Kinyoun stain between September and November, 2017. Results: In order of frequency, the parasite genera found in the seven primate species evaluated were Blastocystis spp.,Trichomonas spp., Giardia spp., Entamoeba spp., Strongyloides spp., Cyclospora sp., and Trichuris sp. Conclusions: At least six of the parasite genera found have potential zoonotic implications. It is necessary to establish what are the infection sources at the Zoológico de Cali and implement management protocols to reduce the risk of transmission to both humans and other animals in the collection. Additionally, we offer relevant information on the zoonotic potential of each of the enteroparasites found.