Malaria in populations with mining occupation, Colombia, 2012-2018 / [Malaria en poblaciones con ocupación minera, Colombia, 2012-2018].

Introduction: Malaria represents one of the biggest public health challenges, mainly in poor countries. Colombia has social characteristics such as migration, informal work, and economic shortages that favor illegal mining activities. The study of the malaria situation in these areas would allow establishing the bases for its prevention, control, and treatment in the existing public health programs. Objective: To describe the malaria situation in Colombian mining populations between 2012 and 2018. Materials and methods. We conducted a retrospective descriptive study with graphs and maps. For the statistical analysis, we used Pearson´s correlation and Moran's index. Results. From 2012 to 2018, 44,032 cases of malaria were reported in the mining population, 43,900 of uncomplicated malaria and 132 of complicated malaria, and three deaths, two due to Plasmodium vivax and one due to mixed infection. During this period, there was a decrease of 44.7% in cases. The risk rate in 2012 was 2.5 cases x 1000 inhabitants; 87.3% of cases were in men, and 37.9% corresponded to the 20 to 29-year-old age group while 46.7% were AfroColombians. We found a possible moderate positive linear correlation: The greater the mining activity, the greater the number of malaria cases. The global Moran index indicated a significant spatial grouping of cases in mining activities in Colombian Pacific municipalities. Conclusions. The case notification decrease during this period could be attributed to an underreporting of the public health surveillance system (Sivigila) system, as most miners do not have formal jobs, which prevents them from accessing health services. A cohort study is recommended in endemic areas to establish a direct relationship between mining exploitation and the occurrence of malaria cases.

Introducción. La malaria representa uno de los mayores desafíos de salud pública, principalmente en los países pobres. Ciertas características sociales de Colombia, como la migración, el trabajo informal y la escasez económica, favorecen la minería ilegal. El análisis de la situación de la malaria en estas áreas permite establecer una guía para la prevención, el control y el tratamiento de la enfermedad en los programas de salud pública existentes. Objetivo. Describir la situación de la malaria en las poblaciones mineras colombianas entre el 2012 y el 2018. Materiales y métodos. Se hizo un estudio descriptivo y retrospectivo que incluyó la creación de gráficos y mapas. Para el análisis estadístico se utilizaron la correlación de Pearson y el índice de Moran. Resultados. Entre el 2012 y el 2018, se notificaron 44.032 casos de malaria en la población minera, 43.900 de malaria no complicada y 132 de malaria complicada, así como tres muertes, dos por Plasmodium vivax y una por infección mixta. Hubo una disminución del 44,7 % de los casos en el período evaluado. La tasa de riesgo en el 2012 fue de 2,5 casos por 1.000 habitantes; el 87,3 % de los casos se presentó en hombres y el 37,9 % en personas entre los 20 y los 29 años, en tanto que el 46,7 % de la población estudiada estaba conformada por afrocolombianos. Se encontró una posible correlación lineal positiva moderada entre mayor la actividad minera, mayor el número de casos de malaria en mineros. El índice de Moran global evidenció una agrupación espacial significativa de los casos de malaria en zonas con industria minera en los municipios del Pacífico colombiano. Conclusiones. La disminución en la notificación de casos durante el período evaluado podría atribuirse a un subregistro del Sistema de Vigilancia en Salud Pública (Sivigila), ya que la mayoría de los mineros no tienen trabajos formales, lo que dificulta su acceso a los servicios de salud. Se recomienda un estudio de cohorte en áreas endémicas para establecer una relación directa entre la explotación minera y la presencia de casos de malaria.

Malaria en poblaciones con ocupación minera, Colombia, 2012-2018 / Malaria in populations with mining occupation, Colombia, 2012-2018

Resumen | Introducción. La malaria representa uno de los mayores desafíos de salud pública, principalmente en los países pobres. Ciertas características sociales de Colombia, como la migración, el trabajo informal y la escasez económica, favorecen la minería ilegal. El análisis de la situación de la malaria en estas áreas permite establecer una guía para la prevención, el control y el tratamiento de la enfermedad en los programas de salud pública existentes. Objetivo. Describir la situación de la malaria en las poblaciones mineras colombianas entre el 2012 y el 2018. Materiales y métodos. Se hizo un estudio descriptivo y retrospectivo que incluyó la creación de gráficos y mapas. Para el análisis estadístico se utilizaron la correlación de Pearson y el índice de Moran. Resultados. Entre el 2012 y el 2018, se notificaron 44.032 casos de malaria en la población minera, 43.900 de malaria no complicada y 132 de malaria complicada, así como tres muertes, dos por Plasmodium vivax y una por infección mixta. Hubo una disminución del 44,7 % de los casos en el período evaluado. La tasa de riesgo en el 2012 fue de 2,5 casos por 1.000 habitantes; el 87,3 % de los casos se presentó en hombres y el 37,9 % en personas entre los 20 y los 29 años, en tanto que el 46,7 % de la población estudiada estaba conformada por afrocolombianos. Se encontró una posible correlación lineal positiva moderada entre mayor la actividad minera, mayor el número de casos de malaria en mineros. El índice de Moran global evidenció una agrupación espacial significativa de los casos de malaria en zonas con industria minera en los municipios del Pacífico colombiano. Conclusiones. La disminución en la notificación de casos durante el período evaluado podría atribuirse a un subregistro del Sistema de Vigilancia en Salud Pública (Sivigila), ya que la mayoría de los mineros no tienen trabajos formales, lo que dificulta su acceso a los servicios de salud. Se recomienda un estudio de cohorte en áreas endémicas para establecer una relación directa entre la explotación minera y la presencia de casos de malaria.

Abstract | Introduction: Malaria represents one of the biggest public health challenges, mainly in poor countries. Colombia has social characteristics such as migration, informal work, and economic shortages that favor illegal mining activities. The study of the malaria situation in these areas would allow establishing the bases for its prevention, control, and treatment in the existing public health programs. Objective: To describe the malaria situation in Colombian mining populations between 2012 and 2018. Materials and methods. We conducted a retrospective descriptive study with graphs and maps. For the statistical analysis, we used Pearson's correlation and Moran's index. Results. From 2012 to 2018, 44,032 cases of malaria were reported in the mining population, 43,900 of uncomplicated malaria and 132 of complicated malaria, and three deaths, two due to Plasmodium vivax and one due to mixed infection. During this period, there was a decrease of 44.7% in cases. The risk rate in 2012 was 2.5 cases x 1000 inhabitants; 87.3% of cases were in men, and 37.9% corresponded to the 20 to 29-year-old age group while 46.7% were AfroColombians. We found a possible moderate positive linear correlation: The greater the mining activity, the greater the number of malaria cases. The global Moran index indicated a significant spatial grouping of cases in mining activities in Colombian Pacific municipalities. Conclusions. The case notification decrease during this period could be attributed to an underreporting of the public health surveillance system (Sivigila) system, as most miners do not have formal jobs, which prevents them from accessing health services. A cohort study is recommended in endemic areas to establish a direct relationship between mining exploitation and the occurrence of malaria cases.

Genomic Diversity of Burkholderia pseudomallei Isolates, Colombia.

We report an analysis of the genomic diversity of isolates of Burkholderia pseudomallei, the cause of melioidosis, recovered in Colombia from routine surveillance during 2016-2017. B. pseudomallei appears genetically diverse, suggesting it is well established and has spread across the region.

Lean Healthcare en los Encuentros Médico Quirúrgicos de Oftalmología / EXPERIENCE OF APPLICATION OF LEAN HEALTHCARE WITHIN THE SURGICAL MEDICAL CONFERENCES OF OPHTHALMOLOGY

El sector de la atención en salud está necesitando un cambio fundamental a fin de mejorar significativamente los resultados y limitar al mismo tiempo los costos. La metodología Lean ha demostrado incrementar la calidad, y productividad en el ámbito industrial. Su aplicación en el ámbito de la salud (Lean Healthcare) pueden transformar los sistemas de salud ofreciendo servicios que mejoran de forma continua. Se presenta la experiencia de su aplicación dentro de los Encuentros Médico Quirúrgicos de oftalmología.

The health care sector is in need of fundamental change and a goal to improve outcomes while limiting costs. The Lean methodology has increased quality and productivity in the industrial field. Its application in the field of health (Lean Healthcare) can transform health systems by offering services that improve continuously. The experience of its application within the Surgical Medical Conferences of ophthalmology is presented

[White matter hyperintensities and cognitive function in patients with late onset mania]. / Lesiones hiperintensas de la sustancia blanca y función cognoscitiva en pacientes con manía de inicio tardío.

Bipolar disorder is characterized by affective episodes in the mania-depression spectrum. Ninety per cent of the cases have an onset before age 50. In the patients with late onset mania, white matter hyperintensities (WMH) may be seen in the MRI FLAIR sequence, although these are of uncertain significance. A case-control study was done, including patients with late onset mania attended at the National Institute of Neurology and Neurosurgery, as well as healthy controls which were paired by age, sex, and academic level. Sagital FLAIR CUBE volumetric images were obtained, and later on assessed by an expert neuroradiologist, blinded to the diagnostic category. Neuropsychological measures were obtained. The patients with late onset mania showed statistically significant deficiencies (p < 0.05) in motor programming tasks, and inhibitory control tasks, according to the Frontal Assessment Battery, as well as a significant increase in the number of WMH in the right third frontal gyrus, the left first temporal gyrus, and the left second temporal gyrus. The total number of WMH and the Frontal Assessment Battery total score showed a significant inverse correlation.

Young Alu insertions within the MHC class I region in native American populations: insights into the origin of the MHC-Alu repeats.

OBJECTIVES: Genetic heterogeneity of two Amerindian populations (Jujuy province, Argentina, and Waorani tribe, Ecuador) was characterized by analyzing data on polymorphic Alu insertions within the human major histocompatibility complex (MHC) class I region (6p21.31), which are completely nonexistent in Native Americans. We further evaluated the haplotype distribution and genetic diversity among continental ancestry groups and their potential implications for the dating of the origin of MHC-Alus. METHODS: Five MHC-Alu elements (AluMicB, AluTF, AluHJ, AluHG, and AluHF) were typed in samples from Jujuy (N = 108) and Waorani (N = 36). Allele and haplotype frequency data on worldwide populations were compiled to explore spatial structuring of the MHC-Alu diversity through AMOVA tests. We utilized the median-joining network approach to illustrate the continental distribution of the MHC-Alu haplotypes and their phylogenetic relationships. RESULTS: Allele and haplotype distributions differed significantly between Jujuy and Waorani. The Waorani featured a low average heterozygosity attributable to strong population isolation. Overall, Alu markers showed great genetic heterogeneity both within and among populations. The haplotype distribution was distinctive of each continental ancestry group. Contrary to expectations, Africans showed the lowest MHC-Alu diversity. CONCLUSIONS: Genetic drift mainly associated to population bottlenecks seems to be reflected in the low MHC-Alu diversity of the Amerindians, mainly in Waorani. Geographical structuring of the haplotype distribution supports the efficiency of the MHC-Alu loci as lineage (ancestry) markers. The markedly low Alu diversity of African populations relative to other continental clusters suggests that these MHC-Alus might have arisen after the anatomically modern humans expanded out of Africa.

Alu polymorphisms in the Waorani tribe from the Ecuadorian Amazon reflect the effects of isolation and genetic drift.

OBJECTIVES: The Amazon basin is inhabited by some of the most isolated human groups worldwide. Among them, the Waorani tribe is one of the most interesting Native American populations from the anthropological perspective. This study reports a genetic characterization of the Waorani based on autosomal genetic loci. METHODS: We analyzed 12 polymorphic Alu insertions in 36 Waorani individuals from different communal longhouses settled in the Yasuní National Park. RESULTS: The most notable finding was the strikingly reduced genetic diversity detected in the Waorani, corroborated by the existence of four monomorphic loci (ACE, APO, FXIIIB, and HS4.65), and of other four Alu markers that were very close to the fixation for the presence (PV92 and D1) or the absence (A25 and HS4.32) of the insertion. Furthermore, results of the centroid analysis supported the notion of the Waorani being one of the Amerindian groups less impacted by gene flow processes. CONCLUSIONS: The prolonged isolation of the Waorani community, in conjunction with a historically low effective population size and high inbreeding levels, have resulted in the drastic reduction of their genetic diversity, because of the effects of severe genetic drift. Recurrent population bottlenecks most likely determined by certain deep-rooted sociocultural practices of the Waorani (characterized by violence, internal quarrels, and revenge killings until recent times) are likely responsible for this pattern of diversity. The findings of this study illustrate how sociocultural factors can shape the gene pool of human populations.

Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.

BACKGROUND: Genes ADH1B and ADH1C have certain functional SNPs that are related to alcoholism. The frequencies of these polymorphisms vary between populations, so studying them in populations made up of groups with different phylogeographic origins requires an individualized analysis of each group. In the Basque Country, various recently arrived foreign groups live side by side with the original Southern European population, particularly North Africans from Morocco and Hispanics from Ecuador. This study sets out to examine the distribution of the frequencies of alleles that encode alcohol dehydrogenase with different metabolization rates, as higher rates make for greater susceptibility to alcoholism. METHODS: Four SNPs: rs1229984, rs2066702, rs698, and rs1693482 using Taqman technology with a Rt-PCR were studied in a sample of 114 European individuals originating from the Basque Country, 100 North Africans from Morocco, and 109 Hispanics from Ecuador. The allele and genotype frequencies were calculated using Genepop v4.0. The most frequent haplotypes were estimated using the ELB algorithm with Arlequin v3.01. A breakdown of the complete disequilibrium commonly observed between the 2 missense polymorphisms that distinguish the common ADH1C alleles rs698 and rs1693482 was observed and confirmed by sequencing in 2 individuals from the Basque Country. RESULTS: A higher frequency of protective allele ADH1C*1 was found in the North African population group. Haplotype combinations are also studied, and the rare association of alleles ADH1B*2-ADH1C*2 was observed in the Southern European group in the Basque Country, along with an allele not hitherto described in the ADH1C locus. CONCLUSIONS: This study provides the first data published on the allele and genotype frequencies of the ADH1C locus in the Moroccan population and on the ADH1B and ADH1C loci in the Ecuadorian population. The study shows differences in the distribution of the frequency of allele ADH1C*1 between the Basque Country and Moroccan populations, and a new allele not described to date.

HPV genotyping in anogenital abnormal samples of Ecuadorian women.

BACKGROUND: Limited data are available describing human papilloma virus (HPV) genotype distributions in gynecological lesions in Ecuador. To predict how HPV vaccination and HPV-based screening will influence cervical cancer prevention it needs such studies. METHODS: We analyzed 124 samples from women, adults between 18 to 55 years old, Mestizas (Hispanics), were born and living in Quito, Ecuador. They showed an atypical sample in PapTest or a histological abnormal evaluation. We used the kit PVH Fast 2.0 with conventional PCR to study cervical and vulvar swabs prior colposcopy and/or cytology. RESULTS AND CONCLUSIONS: We found 23 different genotypes. 84/104 cases were positive for HPV (67.7%); 32/124 cases were negative (25.8%); and, in 8/124 cases (6.5%) we were unable to ascertain the existence or lack of HPV. The most common viral genotype was 6 (8.8%) followed by the 66 (4.8%) and 16, 31, 44 types (2.4% each one). Types 11, 34, 35, 54, 59, 62 and 67 showed a frequency equivalent to 1.6% each one. The remaining types showed a 0.8% frequency. Most common high-risk genotypes were 16 and 31, low-risk 6 and 41 and, the third most common group HPV type detected in this cohort was HPV 66. HPV 6 showed the highest prevalence. HPV 66 was associated with atypical cytology and was found in women with borderline cytology, low-grade lesions and high-grade lesions, but was most frequent in the threshold group. We examine a case of coexistence of 2 genotypes together 51 and 58. We found very low prevalence of HPV18 alone or HPV16/18. In 25 samples, 20.16% (25/124) we found HPV presence but we were unable to identify the genotype. We need more studies with a broad sampling to complete our geographic pattern of HPV distribution.

Y-STR variation among ethnic groups from Ecuador: Mestizos, Kichwas, Afro-Ecuadorians and Waoranis.

Twelve Y-chromosomal short tandem repeats (STRs) DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438 and DYS439 were studied in the three major ethnic groups from Ecuador: Mestizos, Native Amerindians (Kichwas, Quichuas) and Afro-Ecuadorians aiming to construct a representative database for this region in Latin America. All three populations exhibit high haplotypes diversities. Analysis of molecular variance (AMOVA) reveals significant differentiation between the Mestizos, the Kichwas and the Afro-Ecuadorians. The analysis of a hunter-gatherer group of Native Amerindians from the Amazonian provinces of Ecuador, the Waoranis (Huaorani) revealed markedly reduced haplotypes variability and a large genetic distance to the major Ecuadorian populations.

Two fathers for the same child: a deficient paternity case of false inclusion with autosomic STRs.

We present a case of deficient paternity with two presumptive fathers analyzed with 19 autosomic short tandem repeats (STRs) and resolved by means of the study of 12 Y-chromosome STRs. Fifteen autosomic STRs consensued from the commercial kit PowerPlex-16 (Promega) were analyzed, and a combined paternity index (PI(com)) of 13,811.215 and a probability of paternity (W) of 99.9999928% were obtained for presumptive father 1 and a PI(com) of 35,332.241 with a W of 99.9999971% for presumptive father 2.

Y-chromosome STR haplotypes in three different population groups from Ecuador (South America).

POPULATIONS: Over 102 unrelated Mestizos, 102 Native Amerindian (Kichwas), and 102 African Americans who represent the three largest communities of the country Ecuador (South America).

Sex-specific genetic admixture of Mestizos, Amerindian Kichwas, and Afro-Ecuadorans from Ecuador.

Three main ethnic groups live in the South American country of Ecuador: Mestizos, Amerindian natives, and African-derived populations, or Afro-Ecuadorans. Mestizos and Afro-Ecuadorans can be considered trihybrid populations containing genes originating in the Americas, Europe, and Africa, as is the case with equivalent populations in other Latin American countries. The proportion and the dynamics of the admixture process remain unknown. However, a certain sex asymmetry of the admixture process can be expected for historical reasons. We typed 11 Y-chromosome short tandem repeats (STRs) in these three ethnic groups to provide adequate allele and haplotype frequencies for forensic genetic purposes and to quantify admixture proportions in male lineages. In addition, a data set of 15 autosomal STRs in the same samples were reanalyzed for the same purpose. Contributions to Mestizo Y chromosomes were estimated to be 70% European, 28% Amerindian, and 2% African, whereas in autosomes the contributions were 19%, 73%, and 8%, respectively, which underlines the sexual asymmetry in mating, with Europeans contributing mostly males. European Y-chromosome haplotypes in Mestizos were similar to those in Spain. Moreover, about 10% of European Y chromosomes were found in the Amerindian Kichwa. As for Afro-Ecuadorans, their contributions to the male line are 44% African, 31% European, and 15% Native American; the last value is the highest percentage reported so far for an African-derived American group. Autosomal admixture was estimated as 56% African, 16% European, and 28% Amerindian.

Cryptosporidiosis and other intestinal protozoan infections in children less than one year of age in Mexico City.

Parasitic diseases are very important in Mexico because of their economic impact and adverse effects on normal growth in children. Cryptosporidiosis has been associated with acute diarrhea in immune competent and incompetent human hosts, fecal contamination of drinking water sources, and handling of animals. Due to the lack of reports on cryptosporidiosis in Mexico, we conducted a parasitologic study in children with diarrhea and other clinical symptoms. The main objectives were 1) to determine the prevalence of cryptosporidiosis in children less than one year of age in Mexico City, and 2) to correlate Cryptosporidium infection with gastrointestinal symptoms. Two hundred fecal samples from children seen at the Gabriel Mancera Familiar Medicine Unit of the Instituto Mexicano del Seguro Social were studied. Children were divided into two groups. Group A was composed of sick children with 6-8 watery diarrheic episodes every 24 hours attended at the emergency service. Group B was composed of healthy babies getting routine check ups. Only children in group A were found to be infected with intestinal protozoa (50% with Giardia lamblia, 41% with Cryptosporidium spp., and 4% with Entamoeba histolytica). The results suggested a high incidence of Cyrptosporidium infections in children in Mexico City, which make these observations useful for future studies.

DNA typing from skeletal remains following an explosion in a military fort--first experience in Ecuador (South-America).

We present individual body identification efforts, to identify skeletal remains and relatives of missing persons of an explosion took place inside one of the munitions recesses of the Armoured Brigade of the Galapagos Armoured Cavalry, in the city of Riobamba, Ecuador, on Wednesday, November 20, 2002. Nineteen samples of bone remains and two tissue samples (a blood stain on a piece of fabric) from the zero zone were analysed. DNA extraction was made by Isoamilic Phenol-Chloroform-Alcohol, and proteinase K. We increased PCR cycles to identify DNA from bones to 35 cycles in some cases. An ABI 310 sequencer was used. Determination of the fragment size and the allelic designation of the different loci was carried out by comparison with the allelic ladders of the PowerPlex 16 kit and Gene Scan Analysis Software programme. Five possible family groups were established and were compared with the profiles found. Classical Bayesian methods were used to calculate the Likelihood Ratio and it was possible to identify five different genetic profiles in our country. This paper is important because is a novel experience for our forensic services, because this was the first time DNA had been used as an identification method in disasters, and it was validated by Ecuadorian justice like a very effective method.

Miasis asociada a síndrome de complejo vascular periférico / Cutaneos myiais case asociated to a vascular cerebral disease

Se presenta un caso de miasis en un paciente masculino de 70 años de edad, cuyos antecedentes son: el habitar solo en malas condiciones de higiene y alimentación. A causa de una enfermedad vascular cerebral, presenta parálisis facial derecha y en las extremidades superior e inferior contralaterales. Inicia su padecimiento con una mácula eritematosa que evoluciona a úlcera en la región dorsal del pie izquierdo. A partir de esta úlcera se observa la salida de gusanos, que posteriormente se clasificaron como larvas de Dermatobia hominis. El tratamiento consistió en la eliminación de las larvas por desbridamiento y administración de antibióticos. Debido al grado de necrosis regional, se requirió la amputación supracondílea del pie izquierdo. El paciente evoluciona satisfactoriamente y es controlado a través de la consulta externa.

Genetic profile of the Kichwas (Quichuas) from Ecuador by analysis of STR loci.

Allele frequency data for the STR systems CSFaPO, TPOX, TH01, D13S317, D16S539, D5S818, and D7S820 were determined in a population sample of unrelated, healthy Amerindian Kichwa individuals. All loci met Hardy-Weinberg expectations, and there was no evidence for association of alleles among the seven loci.

CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.

Cystic Fibrosis is a worldwide distributed hereditary disease. The incidence of the main (p.F508del) and other frequent mutations has been determined in a great number of countries and ethnic groups, but its incidence in most Latin American countries has remained unknown until recently. It is now beginning to be recognized as a frequent cause of infant mortality, and some countries report the incidence of their mutations. Colombia started several years ago a concerted program of molecular study of patients which were clinically diagnosed as probable cystic fibrosis. We screened the whole CFTR (ABCC7) coding sequence in 92 patients from 6 different geographic regions, using conventional PAGE analyses and DGGE followed by sequencing. Additionally, we established the frequency of the p.F508del mutation in 130 unrelated healthy controls. The results of this pilot study in Colombian patients from various ethnic admixture show six main mutations: p.F508del (41.8%), c.1811+1.6kbA>G (6.5%), p.G542X (3.8%), p.S549R (2.2%), p.W1282X (1.1%) and p.R1162X (1.1%). Thirteen other rare mutations, including three novel, were detected, accounting for a total of 63.6% known mutations. There is a great variability between the geographic regions, both in the frequency of the p.F508del mutation and non-p.F508del CF chromosomes. Our results point to a varied origin of the disease genes. These results also show that careful scrutiny of the mutations is needed in each part of Latin America in order to establish priority-screening protocols adapted to each country and region.

Genetic profile of the Ecuadorian Mestizo population (Ecuador-South America) by using the Power Plex 16 System Kit.

Allele frequency data for the 15 STR systems and Amelogenine were determined in a population sample of healthy Mestizo unrelated individuals. All loci met Hardy-Weinberg expectations and the high discrimination power of combined system showed the forensic efficiency of these genetic markers. There is a lack of information on Ecuadorian population from a genetic point of view and therefore no previous publications on the distribution of STRs on Mestizos is available. Mestizos are descendents of Spanish and Amerindian people, however, significant differences were found between the former and the populations from Spanish peninsula, that have been analyzed for these genetic markers.