Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala.

The Mayan population of Guatemala is understudied within eye and vision research. Studying an observational homogenous, geographically isolated population of individuals seeking eye care may identify unique clinical, demographic, environmental and genetic risk factors for blinding eye disease that can inform targeted and effective screening strategies to achieve better and improved health care distribution. This study served to: (a) identify the ocular health needs within this population; and (b) identify any possible modifiable risk factors contributing to disease pathophysiology within this population. We conducted a cross-sectional study with 126 participants. Each participant completed a comprehensive eye examination, provided a blood sample for genetic analysis, and received a structured core baseline interview for a standardized epidemiological questionnaire at the Salama Lions Club Eye Hospital in Salama, Guatemala. Interpreters were available for translation to the patients' native dialect, to assist participants during their visit. We performed a genome-wide association study for ocular disease association on the blood samples using Illumina's HumanOmni2.5-8 chip to examine single nucleotide polymorphism SNPs in this population. After implementing quality control measures, we performed adjusted logistic regression analysis to determine which genetic and epidemiological factors were associated with eye disease. We found that the most prevalent eye conditions were cataracts (54.8%) followed by pseudoexfoliation syndrome (PXF) (24.6%). The population with both conditions was 22.2%. In our epidemiological analysis, we found that eye disease was significantly associated with advanced age. Cataracts were significantly more common among those living in the 10 districts with the least resources. Furthermore, having cataracts was associated with a greater likelihood of PXF after adjusting for both age and sex. In our genetic analysis, the SNP most nominally significantly associated with PXF lay within the gene KSR2 (p < 1 × 10-5). Several SNPs were associated with cataracts at genome-wide significance after adjusting for covariates (p < 5 × 10-8). About seventy five percent of the 33 cataract-associated SNPs lie within 13 genes, with the majority of genes having only one significant SNP (5 × 10-8). Using bioinformatic tools including PhenGenI, the Ensembl genome browser and literature review, these SNPs and genes have not previously been associated with PXF or cataracts, separately or in combination. This study can aid in understanding the prevalence of eye conditions in this population to better help inform public health planning and the delivery of quality, accessible, and relevant health and preventative care within Salama, Guatemala.

Candidate gene variant effects on language disorders in Robinson Crusoe Island.

Background: Robinson Crusoe Island is a geographically and socially isolated settlement located over 600 km west of the Port of Valparíso, Chile. An unusually high incidence (30%) of the Chilean equivalent of developmental language disorder (in Spanish, trastorno especifico de lenguaje (TEL)), has been reported in Islander children, with 90% of these affected children found to be direct descendants of a pair of original founder-brothers, therefore strongly suggesting a shared genetic basis. Aim: This study reports a comprehensive examination of 34 genes that have been previously directly implicated in language-related mechanisms. It utilises whole-genome sequencing to investigate potential underlying variants in seven TEL affected and 10 unaffected islanders. The aim was to identify the underlying genetic cause of the TEL phenotype under two inheritance model paradigms; Mendelian monogenic and complex susceptibility. Subjects and methods: A targeted candidate gene approach was used to look for rare, shared variants that may underlie the diagnosis of TEL in a Mendelian genetic model. This study tested whether an overall burden of rare variants is enriched in individuals affected by TEL or with Islanders related to the founder-brother lineage. It further examined if any variants segregate with affection status or with founder-brother-related status and, therefore, may increase risk of developing a language disorder as part of a complex model. Finally, gene-based tests were performed to evaluate relationships between combined variation across candidate genes and TEL affection status. Results: No single pathogenic rare variant segregated with either affection or founder-related status within the 34 candidate genes. Additionally, no evidence was found of an overall increased variant burden in TEL individuals compared to those with TLD. Gene-based analysis found no clear association between the combined effects of variants across the 34 genes and affection status or founder-brother-relatedness. Conclusion: The high prevalence of language disorders found on Robinson Crusoe Island is not caused by either a shared high-impact variant, or an increased burden of variants within candidate genes previously implicated in language disorders. We have comprehensively tested for 'low hanging fruit' in genes implicated in language disorders. Therefore, the underlying cause of TEL on Robinson Crusoe lies outside of these known language disorder genes, or within a complex susceptibility model.

Early Stages of Morpho amathonte (Lepidoptera: Nymphalidae, Morphinae) and its Variation on the Pacific Coast of Costa Rica

The Southern Pacific Coast of Costa Rica shows some local variations in its four Morpho species. The goal of this article is to compare the life cycle of M. amathonte from different areas in Costa Rica and South America. The immature stages were found on Pterocarpus officinalis Jacq. and then photographed and described so as to illustrate its morphology and behavior. It is clear, that M. amathonte from the South Pacific side of Costa Rica comes from one isolated population and demonstrates a cryptic nature between the two forms present in Costa Rica.

Las cuatro especies de Morpho de la costa Pacífica de Costa Rica muestra algunas variaciones locales. El objetivo de este artículo es comparar el ciclo de vida de M. amathonte de diferentes localidades de Costa Rica y Sudamérica. Los estadios inmaduros se encontraron en Pterocarpus officinalis Jacq. y luego fotografiados y descritos para ilustrar su morfología y comportamiento. Es evidente que M. amathonte del lado del Pacífico de Costa Rica proviene de una población aislada y demuestra una naturaleza críptica entre las dos formas presentes en Costa Rica.

Seasonal prevalence of antibodies to Leptospira interrogans in Antillean manatees from a landlocked lake in Tabasco, Mexico.

Factors that alter the dynamics of ecologic systems can influence transmission of infectious diseases and may lead to decreases in natural populations. Leptospirosis is a cosmopolitan disease of zoonotic importance that affects most mammals. At the southern Gulf of Mexico, Antillean manatees (Trichechus manatus manatus) inhabit highly variable environments, with extended floods during the rainy season and drought conditions during the dry season that affect food availability and the thermal environment for manatees. We tested for changes in prevalence and titers of antibodies to 12 serovars of Leptospira interrogans in manatees between dry and rainy seasons. We determined titers for L. interrogans through microscopic agglutination tests (MAT) from 10 manatees, six during the dry season (DS), and six during the rainy season (RS) in Laguna de las Ilusiones, a landlocked lake hosting a population of about 20 manatees. All individuals were antibody positive (titers ≥ 100) to at least one serovar. The serovars bataviae, bratislava, canicola, and icterohaemorrhagiae had overall prevalences ≥ 50%; bataviae, bratislava, and canicola had prevalences ≥ 50% during both seasons. Serovars icterohaemorrhagiae and pyrogenes had prevalences ≥ 50% during DS and pomona, tarassovi, wolfii, and autumnalis during RS. Significant differences in prevalence between seasons were found for pomona, tarassovi, and autumnalis. Titers of tarassovi, wolfii, autumnalis, and bataviae were significantly higher during RS. There was a high prevalence of L. interrogans during the RS independent of high availability of plant foods, coinciding with the epizootiology of the bacteria that are endemic to tropical regions. Another factor possibly influencing prevalence is high anthropogenic pressure at the lake, causing an increase in potential sources of infection. Because of possible cross-reaction in MAT, further research is needed on the molecular discrimination of serovars in animals in the lake.

Polaridad predominante en pacientes bipolares tipo I. Estudio en una población aislada con alta prevalencia de trastornos de ánimo / Predominant polarity in type-I bipolar patients. Study in an isolated population with a high prevalence of mood disorders

Introducción: Estudios recientes han demostrado que la descripción de la polaridad predominante tiene efectos en la detección temprana y el inicio oportuno del tratamiento en los pacientes con trastorno afectivo bipolar (TAB). Metodología: Estudio descriptivo de corte transversal en 101 pacientes con TAB procedentes de una muestra poblacional genéticamente aislada de la región colombiana de Antioquia. Resultados: El estudio abarcó una población de 101 pacientes con diagnóstico de TAB tipo I, de los cuales 57,4% cumplieron criterios de polaridad maniaca (PM), 10,1% presentaron polaridad depresiva (PD) y 25,7% fueron clasificados con polaridad indefinida (PI). En comparación con los otros, los pacientes con PM tienen menor nivel educativo y menor edad de inicio y hay más solteros que en los otros grupos. La mayor prevalencia de suicidio se dio dentro del grupo de PM. El grupo de PM presentó un mayor consumo de cannabinoides y cocaína. Dentro del grupo de PD se registró una fuerte tendencia al consumo de cigarrillo y alcohol. Respecto a los fármacos consumidos a lo largo de la vida por los pacientes que conforman el estudio, los antipsicóti-cos fueron el grupo más usado, seguido por el litio y los anticonvulsivantes. Hay un elevado porcentaje de pacientes con PM que usaron antidepresivos a lo largo de su vida. Conclusiones: La polaridad del primer episodio de la enfermedad parece ser un parámetro de pronóstico válido en cuanto a la polaridad de los episodios subsiguientes; por lo tanto funciona de forma indirecta como predictor del curso de la enfermedad...

Introduction: Recent studies have shown that the predominant description of polarity has effects upon early detection and the timely beginning of treatment in patients with bipolar affective disorder (BAD). Methodology:Cross sectional cut and descriptive study in 101 BAD patients coming from a genetically isolated population from the Colombian Region of Antioquia. Results: The study covered a population of 101 patients with type-I BAD diagnosis, out of which 57,4% met the criteria for maniac polarity (MP), 10,1% exhibited depressive polarity (DP) and 25,7% were classified with Indefinite Polarity (IP). In comparison, MP patients have a lower education level and less starting age, including a greater number of single people. The MP group showed the greatest prevalence of suicide and greater use of cannabinoids and cocaine. Within the DP group there was a strong tendency to cigarette and alcohol consumption. With respect to pharmaceutical drugs consumed by the study patients during their lives, antipsychotics were the most widely used group, followed by lithium and anticonvulsivants. There is high percentage of MP patients who have used antidepressants during their lives. Conclusion: The polarity of the first episode of the disease seems to be a valid predictive parameter concerning the polarity of subsequent episodes; therefore, it works indirectly as a valid predictor of the disease’s course...

[Predominant polarity in type-I bipolar patients: Study in an isolated population with a high prevalence of mood disorders]. / Polaridad predominante en pacientes bipolares tipo I: Estudio en una población aislada con alta prevalencia de trastornos de ánimo.

INTRODUCTION: Recent studies have shown that the predominant description of polarity has effects upon early detection and the timely beginning of treatment in patients with bipolar affective disorder (BAD). METHODOLOGY: Cross sectional cut and descriptive study in 101 BAD patients coming from a genetically isolated population from the Colombian Region of Antioquia. RESULTS: The study covered a population of 101 patients with type-I BAD diagnosis, out of which 57,4% met the criteria for maniac polarity (MP), 10,1% exhibited depressive polarity (DP) and 25,7% were classified with Indefinite Polarity (IP). In comparison, MP patients have a lower education level and less starting age, including a greater number of single people. The MP group showed the greatest prevalence of suicide and greater use of cannabinoids and cocaine. Within the DP group there was a strong tendency to cigarette and alcohol consumption. With respect to pharmaceutical drugs consumed by the study patients during their lives, antipsychotics were the most widely used group, followed by lithium and anti-convulsivants. There is high percentage of MP patients who have used antidepressants during their lives. CONCLUSION: The polarity of the first episode of the disease seems to be a valid predictive parameter concerning the polarity of subsequent episodes; therefore, it works indirectly as a valid predictor of the disease's course.