SummaryHaemophilia is the most frequent hereditary haemorrhagic illness and it is due to the defi... more SummaryHaemophilia is the most frequent hereditary haemorrhagic illness and it is due to the deficiency of coagulation factors VIII (haemophilia A, HA) or IX (haemophilia B, HB).The prevalence of this disease varies according to the country, those having better survival rates having also higher prevalences. Specifically in Costa Rica, there are around 130 HA and 30 HB families. This study reports the prevalence and a spatial distribution analysis of both types of the disease in this country. The prevalence of haemophilia in this country is 7 cases per 100 000 men, for HA it is 6 cases per 100 000 and for HB it is 1 case per 100 000 male inhabitants. The prevalence of this disease is low when compared with other populations. This low prevalence could be due to the many patients that have died because of infection with human immunodeficiency virus during the 1980s. The prevalence of haemophilia in Costa Rica is almost one half of that present in developed countries. Nevertheless, the ...
Even though the Onychophora represent a whole phylum, observations of their activity pattern in n... more Even though the Onychophora represent a whole phylum, observations of their activity pattern in nature are almost non-existent. Here we report on the relationship between humidity and light and activity pattern of a new species of velvet worm, genus Epiperipatus, from four years of field observations in the South Pacific of Costa Rica. We found that most activity occurs during the driest and darkest nights of the year, in contrast with theoretical predictions.
Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuro... more Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2). We proposed a homozygous missense variant in the Mediator complex 25 (MED25) gene as causative of the disease. Nevertheless, the fact that no other CMT individuals with MED25 variants were reported to date led us to reevaluate the original family. Using exome sequencing, we now identified a homozygous nonsense variant (p.Gln517ter) in the last exon of an adjacent gene, the polynucleotide kinase 3'-phosphatase (PNKP) gene. It encodes a DNA repair protein recently associated with recessive ataxia with oculomotor apraxia type 4 (AOA4) and microcephaly, seizures, and developmental delay (MCSZ). Subsequently, five unrelated Costa Rican CMT2 subjects initially identified as being heterozy...
A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rh... more A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2,196 unrelated Costa Rican individuals of both sexes. Data was classified and analyzed according to geographic regions. Gene frequencies and the goodness of fit to Hardy-Weinberg equilibrium were estimated by the maximum likelihood method. A geographic structuring was observed in the Costa Rican population. All the regions of Costa Rica show higher heterozigosity values than the ones observed in the indigenous Costa Rican groups, but similar or slightly higher than the ones observed in the Spanish populations. The genetic distance analysis evidenced that the regions of Costa Rica group close to each other in intermediate positions between the Amerindians and the Spanish, fact that is coherent with the statement that attributes a intermediate origin to the general population of Costa Rica. The data contradicts the id...
During long time, historians and genealogists have interpreted that the elite that emerged during... more During long time, historians and genealogists have interpreted that the elite that emerged during the Spanish Conquest was almost exclusively European. We reconstructed a deep matrilineal genealogy which includes recent Costa Rican ex-presidents and religious authorities back to their ancestors at the early 17th century, and compared their historic ethnic affinities with genetic mitochondrial evidence of some living descendents. The observed DNA lineage has an Amerindian ancestry. Such results point out that an Amerindian gene flow had occurred into the Spanish group during the first generations of colonial society. This conclusion do not support the current idea that the Spanish elite avoided interethnic marriages.
The population of Costa Rica has been considered historically as the product of the amalgamation ... more The population of Costa Rica has been considered historically as the product of the amalgamation of three ethnic groups: Europeans, Africans and Amerindians. In addition, it has been said that this population is highly inbred, mainly in the central regions of the country. In order to analyze these aspects of historical origin and the constitution of Costa Rica population, we have been conducting a series of studies that aim to unravel the genetic structure of that population. The results show that the Costa Rican population is certainly trihybrid, similar to those of other countries in Latin America, but differing from them in the proportions of gene flow from the ancestral populations. We found that while some specific regions inside the Central Valley maintain a high average inbreeding coefficient, the general trend towards a temporary decline over time. The percentage of inbreeding (alpha) remains high, but in general is not correlated positively with the alpha value. That suggest the existence of moderate emigrations and more unions between couples with the same geographical origin, but not consanguineous unions.UCR::Vicerrectoría de Docencia::Ciencias Básicas::Facultad de Ciencias::Escuela de Biologí
Se describe Macroperipatus valerioi , una nueva especie de Rio Damitas, 16 Km norte de Puerto Que... more Se describe Macroperipatus valerioi , una nueva especie de Rio Damitas, 16 Km norte de Puerto Quepos, en la costa del Pacifico de Costa Rica. M. valerioi , sp. n., esta relacionado con M. geayi (Bouvier) de Sur America, del cual difiere por poseer un color pardo uniforme en el dorso; por la curvatura de la delgada cuarta almohadilla pedal de los pares cuarto y quinto de lobopodios (esta rodea al tuberculo nefridial que permanece totalmente libre y recargado al lado posterior); por la presencia de dos dientes accesorios, el segundo con menor desarrollo que el primero, y por tener de 12 a 13 denticulos en la sierra de la mandibula interna. El tipo es una hembra de 34 pares de patas.
Onychophoran worms are considered "living fossils" because their basic body structure h... more Onychophoran worms are considered "living fossils" because their basic body structure has changed little in 500 million years. Only two species have been properly recorded from Mexico: Macroperipatus perrieri from Veracruz, and Oroperipatus eisenii from Nayarit. Here we report an undescribed species of Oroperipatus from Tuxtla Gutiérrez, Chiapas. Males, which are rarer, smaller and reddish than females, are 3-4cm long and have 24-25 leg pairs (N=6). Females are 4-7,5cm long and have 28-29 pairs (N=19). We propose the common name "Tuxtla Brownish Purple Velvet Worm" to help study and protect the species until it receives formal description. This new record expands the known distribution of the phylum in Mexico from the evergreen forest of Veracruz to the deciduous forest of Tuxtla (400Km).
Onychophorans or velvet worm are the only phylum without extant marine species and the only inver... more Onychophorans or velvet worm are the only phylum without extant marine species and the only invertebrates with a true placenta, but most species are rare and thus more likely to become extinct. A key obstacle for their conservation is the time and work needed to describe species with the high standards current taxonomy, and many species will remain undescribed and without any name for years. Here we propose a way to associate information with undescribed species: "common names", a solution that has proved its value in ornithology. Onychophoran common names must include a geographic indicator and a description a salient characteristic, and to show its viability, here we apply our proposal to the velvet worm fauna of southeastern Central America. Common names like "Lajas Ferruginous Brown Onychophoran", "Churuquita Collared Cinnamon Rufous Onychophoran" and "Antón Collared Mauve Onychophoran" will help conservation until formal Latin binomials b...
Onychophorans are hard to find and identify to species under field conditions. Currently, there a... more Onychophorans are hard to find and identify to species under field conditions. Currently, there are seven species described from Costa Rica, and an appropriate taxonomic revision is necessary. However, technology allows the documentation of rare and even undescribed species. Here we compile donated photographs and online images to identify 18 new Costa Rican species (based on taxonomic characteristics or geographical distribution). In addition we present relevant scientific information for each. Although it is not possible to make a formal description of species from photographs, this compilation shows where they can be searched for future research. Our goal is to preserve this information and to raise awareness among biology students and nature photographers about the importance of finding an onychophoran. These findings frequently result in new species discoveries.
SummaryHaemophilia is the most frequent hereditary haemorrhagic illness and it is due to the defi... more SummaryHaemophilia is the most frequent hereditary haemorrhagic illness and it is due to the deficiency of coagulation factors VIII (haemophilia A, HA) or IX (haemophilia B, HB).The prevalence of this disease varies according to the country, those having better survival rates having also higher prevalences. Specifically in Costa Rica, there are around 130 HA and 30 HB families. This study reports the prevalence and a spatial distribution analysis of both types of the disease in this country. The prevalence of haemophilia in this country is 7 cases per 100 000 men, for HA it is 6 cases per 100 000 and for HB it is 1 case per 100 000 male inhabitants. The prevalence of this disease is low when compared with other populations. This low prevalence could be due to the many patients that have died because of infection with human immunodeficiency virus during the 1980s. The prevalence of haemophilia in Costa Rica is almost one half of that present in developed countries. Nevertheless, the ...
Even though the Onychophora represent a whole phylum, observations of their activity pattern in n... more Even though the Onychophora represent a whole phylum, observations of their activity pattern in nature are almost non-existent. Here we report on the relationship between humidity and light and activity pattern of a new species of velvet worm, genus Epiperipatus, from four years of field observations in the South Pacific of Costa Rica. We found that most activity occurs during the driest and darkest nights of the year, in contrast with theoretical predictions.
Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuro... more Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2). We proposed a homozygous missense variant in the Mediator complex 25 (MED25) gene as causative of the disease. Nevertheless, the fact that no other CMT individuals with MED25 variants were reported to date led us to reevaluate the original family. Using exome sequencing, we now identified a homozygous nonsense variant (p.Gln517ter) in the last exon of an adjacent gene, the polynucleotide kinase 3'-phosphatase (PNKP) gene. It encodes a DNA repair protein recently associated with recessive ataxia with oculomotor apraxia type 4 (AOA4) and microcephaly, seizures, and developmental delay (MCSZ). Subsequently, five unrelated Costa Rican CMT2 subjects initially identified as being heterozy...
A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rh... more A study of several loci blood groups (ABO, Diego, Duffy, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus and Secretor), and Hp serum protein was carried out on a sample of 2,196 unrelated Costa Rican individuals of both sexes. Data was classified and analyzed according to geographic regions. Gene frequencies and the goodness of fit to Hardy-Weinberg equilibrium were estimated by the maximum likelihood method. A geographic structuring was observed in the Costa Rican population. All the regions of Costa Rica show higher heterozigosity values than the ones observed in the indigenous Costa Rican groups, but similar or slightly higher than the ones observed in the Spanish populations. The genetic distance analysis evidenced that the regions of Costa Rica group close to each other in intermediate positions between the Amerindians and the Spanish, fact that is coherent with the statement that attributes a intermediate origin to the general population of Costa Rica. The data contradicts the id...
During long time, historians and genealogists have interpreted that the elite that emerged during... more During long time, historians and genealogists have interpreted that the elite that emerged during the Spanish Conquest was almost exclusively European. We reconstructed a deep matrilineal genealogy which includes recent Costa Rican ex-presidents and religious authorities back to their ancestors at the early 17th century, and compared their historic ethnic affinities with genetic mitochondrial evidence of some living descendents. The observed DNA lineage has an Amerindian ancestry. Such results point out that an Amerindian gene flow had occurred into the Spanish group during the first generations of colonial society. This conclusion do not support the current idea that the Spanish elite avoided interethnic marriages.
The population of Costa Rica has been considered historically as the product of the amalgamation ... more The population of Costa Rica has been considered historically as the product of the amalgamation of three ethnic groups: Europeans, Africans and Amerindians. In addition, it has been said that this population is highly inbred, mainly in the central regions of the country. In order to analyze these aspects of historical origin and the constitution of Costa Rica population, we have been conducting a series of studies that aim to unravel the genetic structure of that population. The results show that the Costa Rican population is certainly trihybrid, similar to those of other countries in Latin America, but differing from them in the proportions of gene flow from the ancestral populations. We found that while some specific regions inside the Central Valley maintain a high average inbreeding coefficient, the general trend towards a temporary decline over time. The percentage of inbreeding (alpha) remains high, but in general is not correlated positively with the alpha value. That suggest the existence of moderate emigrations and more unions between couples with the same geographical origin, but not consanguineous unions.UCR::Vicerrectoría de Docencia::Ciencias Básicas::Facultad de Ciencias::Escuela de Biologí
Se describe Macroperipatus valerioi , una nueva especie de Rio Damitas, 16 Km norte de Puerto Que... more Se describe Macroperipatus valerioi , una nueva especie de Rio Damitas, 16 Km norte de Puerto Quepos, en la costa del Pacifico de Costa Rica. M. valerioi , sp. n., esta relacionado con M. geayi (Bouvier) de Sur America, del cual difiere por poseer un color pardo uniforme en el dorso; por la curvatura de la delgada cuarta almohadilla pedal de los pares cuarto y quinto de lobopodios (esta rodea al tuberculo nefridial que permanece totalmente libre y recargado al lado posterior); por la presencia de dos dientes accesorios, el segundo con menor desarrollo que el primero, y por tener de 12 a 13 denticulos en la sierra de la mandibula interna. El tipo es una hembra de 34 pares de patas.
Onychophoran worms are considered "living fossils" because their basic body structure h... more Onychophoran worms are considered "living fossils" because their basic body structure has changed little in 500 million years. Only two species have been properly recorded from Mexico: Macroperipatus perrieri from Veracruz, and Oroperipatus eisenii from Nayarit. Here we report an undescribed species of Oroperipatus from Tuxtla Gutiérrez, Chiapas. Males, which are rarer, smaller and reddish than females, are 3-4cm long and have 24-25 leg pairs (N=6). Females are 4-7,5cm long and have 28-29 pairs (N=19). We propose the common name "Tuxtla Brownish Purple Velvet Worm" to help study and protect the species until it receives formal description. This new record expands the known distribution of the phylum in Mexico from the evergreen forest of Veracruz to the deciduous forest of Tuxtla (400Km).
Onychophorans or velvet worm are the only phylum without extant marine species and the only inver... more Onychophorans or velvet worm are the only phylum without extant marine species and the only invertebrates with a true placenta, but most species are rare and thus more likely to become extinct. A key obstacle for their conservation is the time and work needed to describe species with the high standards current taxonomy, and many species will remain undescribed and without any name for years. Here we propose a way to associate information with undescribed species: "common names", a solution that has proved its value in ornithology. Onychophoran common names must include a geographic indicator and a description a salient characteristic, and to show its viability, here we apply our proposal to the velvet worm fauna of southeastern Central America. Common names like "Lajas Ferruginous Brown Onychophoran", "Churuquita Collared Cinnamon Rufous Onychophoran" and "Antón Collared Mauve Onychophoran" will help conservation until formal Latin binomials b...
Onychophorans are hard to find and identify to species under field conditions. Currently, there a... more Onychophorans are hard to find and identify to species under field conditions. Currently, there are seven species described from Costa Rica, and an appropriate taxonomic revision is necessary. However, technology allows the documentation of rare and even undescribed species. Here we compile donated photographs and online images to identify 18 new Costa Rican species (based on taxonomic characteristics or geographical distribution). In addition we present relevant scientific information for each. Although it is not possible to make a formal description of species from photographs, this compilation shows where they can be searched for future research. Our goal is to preserve this information and to raise awareness among biology students and nature photographers about the importance of finding an onychophoran. These findings frequently result in new species discoveries.
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