The dystrophinopathies in Costa Rica

A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children's Hospital (HNN). This center is the obligate reference hospital of the national health system for genetic diseases, however, the geographic origin of the patients, a low percentage of deletions and a high proportion of de novo mutations found among them indicate that a significant ascertainment bias impedes a substantial scientific approach to confront and alleviate the problems posed by these severe diseases in Costa Rica.     

Rare hemoglobinopathies in Costa Rica]

Among the rare hemoglobinopathies found in Cost Rica are those of the Alfa, Beta, and Delta chains. Among these, Hb Cubujuquí, an undescribed variant, is of special interest. There was an association between the different thalassemic syndromes and their combinations with abnormal hemoglobins.     

Cystic fibrosis mutations in Costa Rica

Using polymerase chain reaction amplification of DNA in dried blood spots and a nonisotopic reverse dot blot hybridization method, we performed molecular genetic analysis for 6 and for 16 of the most common mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in 24 unrelated Costa Rican individuals with cystic fibrosis (CF). While many countries and ethnic groups have been surveyed for CF mutations since the cloning of CFTR, Costa Rica has not heretofore been studied. Moreover, Costa Rica represents an especially intriguing population because of its mixed European-African-Amerindian origins and the existence of a detailed historical record of the founding Spanish families. Thus, such a study may reveal not only the population frequencies of various mutant alleles in this country, but also something about their geographic migrations and ethnic founder effects. The most common CF mutation in Caucasians, deltaF508, was found in only 11 (23%) of the CF chromosomes studied, while the G542X mutation, relatively rare in the general population but more common in southern Europe, was observed in 12 (25%). None of the other mutations tested was found in any of the subjects. We failed to detect the second mutant allele in 17 subjects and could not detect either allele in 4 subjects. The high prevalence of the G542X mutation in our cohort, which exceeds that of both the general Caucasian population and the American Hispanic population, reflects the strong genetic influence of the original Spanish founding families of Costa Rica. These results highlight important differences in Costa Rican CF genotypes as compared both to other North American and European populations and to American Hispanics, raising important implications about isolated founder effects and strategies for population screening in that country.     

History of leukemia research in Costa Rica

A review of leukemia worldwide is discussed, focusing on etiology, diagnosis and treatment. The history of research of this type of cancer in Costa Rica is presented through the first hospital diagnosis, the arrival of clinical and laboratory hematologists, the establishment of specialized laboratories, the local hematology teaching programs and the voluntary associations that help patients with leukemia. A brief review of Costa Rican publications in this area and the future of this problem in our country is also shown.     

Current estate of biotechnology in Costa Rica

A study was carried out on the construction of indicators in biotechnology in Costa Rica as part of the project "SYMBIOSIS, Cooperative Program for the Construction of Indicators in Biotechnology adapted to Latin American and Caribbean countries, to motivate the application and transference of industrial technologies". The study focused on two units: researchers and research projects developed in Costa Rica, between 1998 and 2002. For researchers, information was collected about indicators related to sex, age, teaching activities, number of projects, academic degree, area of speciality and number of publications. For research projects we obtained information about: speciality, sector of application, duration of projects and number of researchers per project. Very interesting results include the high participation of the women in this area of investigation (54%); the low participation of young researchers (13% younger than 30), and a high proportion of the investigators that are responsible for 4 or more projects (42%). With relation to the specialities of the projects, the majority are in the category Bio-Agro (39%) whereas in Acuaculture only 1% was found. The sectors of application with the most number of projects are: Agriculture and Livestock (37%) and Human Health (35%). The main strengthts and limitatations for the development of biotechnology in Costa Rica are discussed.     

Hemoglobin functions in the blood of Bufo marinus

The effects of three physical-chemical factors, temperature, hydrogen ion concentration, and partial pressure of oxygen, on the respiratory functions of blood of the toad (Bufo marinus) have been studied. Measurements of oxygen affinity of hemoglobin in whole blood were measured tonometrically by a method devised for small quantities of blood. At pH 7.40 and 25°C blood was found to be 50% saturated with oxygen at a partial pressure of 44 mm Hg of oxygen. The Bohr effect was measured at various temperatures and found to be about one-half that found for mammalian blood. Carbon dioxide content of toad blood changes only slightly in the oxygenated and reduced states. Thus the “Haldane” effect parallels the small Bohr effect. Toad blood was found to have average hematocrit values of 37% for erythrocytes and average hemoglobin values of 11 gm/100 ml per cubic millimeter of blood. The respiratory functions of the blood of the toad conform to the pattern of respiratory mechanisms available for gas exchange between the environment and tissues of the organism.     

Glaucoma in Costa Rica. Initial approaches

Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease. So far six loci (GLC1A-GLC1F) and two genes (TIGR/MYOC and OPTN) are involved in the development of juvenile (JOAG) and adult onset or chronic primary open angle glaucoma (COAG), while two loci (GLC3A,GLC3B) and one gene (CYP1B1) are known for primary congenital glaucoma (PCG). Here we summarize the results of the first genetic studies of glaucoma in Costa Rica. Nine families: 1 with JOAG, 1 with PCG and 7 with COAG were screened for mutations at the known genes. A 10 bp duplication, 1546-1555dupTCATGCCACC, at the CYP1B1 gene, causes, in homozygous state, glaucoma in the consanguineous PCG family. This mutation has been found in different countries and generates an early stop codon that termitates protein synthesis 140 amino acids earlier than the normal allele. In exon 1 of the T1GR/MYOC the innocuous Arg76Lys variant was found in two of the COAG families. In the OPTN gene two variants in the coding region (Thr34Thr, Met 98Lys) and 7 intronic changes were found in other Costa Rican glaucoma patients. One of the COAG families was chosen for a genome scan with 379 microsatellite markers and linkage analysis. LOD scores "suggestive" of linkage were obtained for several chromosomal regions. Evidence indicates that hereditary glaucoma in Costa Rica is highly heterogeneous and that further studies in the country will probably disclose some up to now unknown genes responsible for the disease.     

Basic limnology of fifty-one lakes in Costa Rica

We visited 51 lakes in Costa Rica as part of a broad-based survey to document their physical and chemical characteristics and how these relate to the mode of formation and geographical distribution of the lakes. The four oxbow lakes were low in elevation and tended to be turbid, high in conductivity and CO2, but low in dissolved O2; one of these, L. Gandoca, had a hypolimnion essentially composed of sea water. These were similar to the four wetland lakes, but the latter instead had low conductivities and pH, and turbidity was often due to tannins rather than suspended sediments. The thirteen artificial lakes formed a very heterogenous group, whose features varied depending on local factors. The thirteen lakes dammed by landslides, lava flows, or lahars occurred in areas with steep slopes, and were more likely to be stratified than most other types of lakes. The eight lakes that occupy volcanic craters tended to be deep, stratified, clear, and cool; two of these, L. Hule and L. Río Cuarto, appeared to be oligomictic (tending toward meromictic). The nine glacial lakes, all located above 3440 m elevation near Cerro Chirripó, were clear, cold, dilute, and are probably polymictic. Cluster analysis resulted in three significant groups of lakes. Cluster 1 included four calcium-rich lakes (average 48 mg l-1), Cluster 2 included fourteen lakes with more Si than Ca+2 and higher Cl- than the other clusters, and Cluster 3 included the remaining thirty-three lakes that were generally less concentrated. Each cluster included lakes of various origins located in different geographical regions; these data indicate that, apart from the high-altitude glacial lakes and lakes in the Miravalles area, similarity in lake chemistry is independent of lake distribution.     

Prenatal diagnosis of chromosomic defects in Costa Rica

This is an historical overview of prenatal cytogenetic diagnosis in Costa Rica. It started in 1984 at the Institute for Health Research of the University of Costa Rica. This is the only fetal cytogenetic diagnosis facility in the country and serves social security as well as private patients. Perinatologists send amniotic fluid and fetal blood samples from high risk pregnancies, mainly due to abnormal ultrasound assessment, sonographic markers of aneuploidy and advanced maternal age. Second and third trimester diagnosis allows the development of coping strategies for the families of affected fetuses, since pregnancy interruption is not permitted. Normal fetal cytogenetic results provide reassurance to the parents.     

Trace metals in coastal sediments from Costa Rica

Marine sediment samples from four coastal ecosystems in Costa Rica were taken between the years 2000-2002 and their iron, lead, copper and zinc concentrations were determined by the atomic absorption technique with flame or graphite furnace. In the Pacific coast, Culebra Bay (Papagayo Gulf), Gulf of Nicoya, and Golfito Bay (Dulce Gulf), were selected as representative sites, and Moín Bay, at the Caribbean coast. Mean metal concentrations for all ecosystems followed the same pattern: Fe > Zn > Cu > Pb. No temporal pattern was found for any metal. Iron and copper mean concentrations were higher in Golfito Bay (5.8% and 87 microg/g, respectively) and lower in Moín Bay (3.4% and 52 microg/g, respectively). Zinc mean concentration was also higher in Golfito Bay (96 microg/g), but lower in Culebra Bay (66 microg/g). Lead mean concentration was higher in Moín Bay (6.4 microg/g) and lower in Culebra Bay (3.0 microg/g). Lead highest concentrations occurred in the Caribbean and in Golfito Bay, and for the rest of the elements the maximum values were found in Golfito Bay. On the basis of data obtained in this work, Culebra Bay was considered a relatively unpolluted location; Golfito Bay was more contaminated, and Moín Bay and the Gulf of Nicoya showed an intermediate condition.     

A new species of Paullinia (Sapindaceae) from Costa Rica

Paullinia fournieri, a new species from Costa Rica is described, illustrated, and its relationships to other species are discussed.     

Box-Jenkins analysis for shark landings in Costa Rica

Sharks are highly vulnerable to intense and prolonged fishery extraction. This article analyzes the data on shark landings from the artisan fishing fleet on Costa Rica's Pacific coast between 1988 and 1997. The data come from an invoicing system administered by the Costa Rican Fisheries Institute (Instituto Costarricense de la Pesca y Acuacultura, INCOPESCA). Pacific coast shark fishing during the period under study represented approximately 20% of the total national fisheries volume. According to data from the invoicing system, the Northern Pacific region was the most productive, reporting 58% of the shark catch nationwide. Within this region, shark fishing in Papagayo Gulf represented 91% and 53% of the landings by fishery region and nationwide, respectively. The mid-sized and advanced (length of boat > 10 meters) artisan fishing fleets reported 96% of the shark catches in the zone. The study of shark fisheries in the Papagayo Gulf zone is crucial for an understanding of fishery dynamics for this resource at the national level. A monthly chronological series was constructed with the landings in the Papagayo Gulf zone, and a Univariate Box-Jenkins (UBJ) Model was estimated for first-order moving averages MA(1) with a seasonal component of the Yt = lamda(t-1) + gammaS12 + a(t) type.     

Disabilities caused by unstable mutations in Costa Rica

Motonic dystrophy and fragile X syndrome are two genetically determined relatively common disabilities. Both are examples of a new type of mutation mechanism called unstable or dynamic mutations, triple repeats expansions or DNA amplification. Fragile X syndrome is recognized as the main cause of hereditary mental retardation and myotonic dystrophy is considered the most common muscular dystrophy of adults. This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques (Southern blot and PCR) and to perform cascade screening of the rest of the family to offer them adequate genetic counseling. We were able to corroborate the initial diagnosis in most clinical cases of myotonic dystrophy, but in the cases of mental retardation more than half studies were negative for fragile X syndrome, stressing the difficulties encountered by medical practitioners to diagnose this syndrome. The reasons for this are several; probable the main culprit is the subtle and unspecific clinical picture affected individuals exhibit, particularly children before puberty. Cascade screening, genetic counseling and selective abortion are the only tools available to prevent these disabling diseases for the moment.     

A new species of Maxillaria (Orchidaceae) from Costa Rica

Maxillaria suaveolens Barringer from the Gulfo Dolce region of Costa Rica is described and illustrated.     

A biogeochemical model for the Gulf of Nicoya, Costa Rica

In agreement with the Broecker and Penn two-boxes model, I generated a biogeochemical balance model for the Gulf of Nicoya (Guanacaste, Costa Rica) using two nutrient reservoirs: surface water and deep water. The mixing zone was located at a depth of 20 m. There is a balance between surface waters descending to the bottom and upwelling waters that carry nutrients and other chemical elements to the surface. The main source of nitrogen (nitrate), was the outlet of the Tempisque and Tárcoles rivers. The Gulf of Nicoya is a net source of Dissolved Inorganic Nitrogen (DIN) with an availability rate of 87 x 10(3) mol day(-1) in the dry season and 3044 x 10(3) mol day(-1)in the rainy season. Dissolved Inorganic Phosphate (DIP) was estimated in 27 mol day(-1) in the dry season and 207 mol day(-1) in the rainy season. The dynamics of these biolimited nutrients, in relation to runoff seasonal variations, fits the biological processes reported for the gulf, for example, for variations in primary productivity levels, and maturity and reproduction seasons for species with short and long life cycles.