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2022 ◽  
Vol 17 (1) ◽  
Author(s):  
R. Badilla-Porras ◽  
A. Echeverri-McCandless ◽  
J. M. Weimer ◽  
A. Ulate-Campos ◽  
A. Soto-Rodríguez ◽  
...  

Abstract Background Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T) in the Costa Rican population, but the frequency of this mutation among local Batten disease patients remains incompletely characterized, as do clinical and demographic attributes for this rare patient population. Objective To describe the main sociodemographic and clinical characteristics of patients with a clinical diagnosis for Batten Disease treated at the National Children's Hospital in Costa Rica and to characterize via molecular testing their causative mutations. Methods DNA extracted from buccal swabs was used for CLN6 gene sequencing. Participants’ sociodemographic and clinical characteristics were also obtained from their medical records. Results Nine patients with a clinical diagnosis of Batten disease were identified. Genetic sequencing determined the presence of the previously described Costa Rican homozygous mutation in 8 of 9 cases. One patient did not have mutations in the CLN6 gene. In all cases where the Costa Rican CLN6 mutation was present, it was accompanied by a substitution in intron 2. Patients were born in 4 of the 7 Costa Rican provinces, with an average onset of symptoms close to 4 years of age. No parental consanguinity was present in pedigrees. Initial clinical manifestations varied between patients but generally included: gait disturbances, language problems, visual impairment, seizures and psychomotor regression. Cortical and cerebellar atrophy was a constant finding when neuroimaging was performed. Seizure medication was a common element of treatment regimens. Conclusions This investigation supports that the previously characterized c.214G > T mutation is the most common causative NCL mutation in the Costa Rican population. This mutation is geographically widespread among Costa Rican NCL patients and yields a clinical presentation similar to that observed for CLN6 NCL patients in other geographies.


2022 ◽  
pp. 36-57
Author(s):  
Ana Marcela Montenegro

Despite many studies researching the increased use and potential effectiveness of mobile devices in secondary education (high school) classrooms, less research has examined teachers' perceptions around such use. Accordingly, this qualitative (phenomenological) study used semi-structured interviews to explore 10 secondary teachers' perceptions around the use of mobile devices in Costa Rican classrooms. Utilizing an interpretive phenomenological analysis (IPA) approach to analyze the data of participants' experiences, results from this study found (1) that Costa Rican secondary teachers had mixed perceptions about using mobile devices for the teaching and learning process and (2) that mobile devices seem a “double edge sword,” which, if not used appropriately in the classroom, can be more detrimental than beneficial for students' learning processes.


2021 ◽  
pp. 173-196
Author(s):  
Kristine Seljemoen ◽  
Kari Soriano Salkjelsvik
Keyword(s):  

Author(s):  
Diana Acosta-Salazar

The evaluation was not until a little more than two decades ago a relevant matter for public activity, concentrated in execution and guided by intuition, public approval or some data to record success in government work. This story has changed due to an increasingly demanding national and international context requiering transparency of public actions, efficiency in activities that each government in turn prioritizes, and of course, the effectiveness of what is proposed. The practice of evaluation in the Costa Rican state system is governed by an exhaustive normative and procedural framework. However, this platform has not necessarily ruled the execution of communication in the institutions. According to a study performed out in Costa Rican institutions between 2019-2020, first with a mapping of the communication units carried out with a survey (43) examining their operation, projects they execute and some evaluation practices they carry out; lack of rigorous evaluation practices were identified. Furthermore, these units there has no obligation to carry out operational planning of their annual activities, to apply systematic evaluations, nor are they obliged to prepare reports on the work carried out. Subsequently, an inquiry was conducted through interviews (22) with planning heads of the institutions and governing bodies to learn about the evaluation regulations, the formats and platforms used, inter-institutional link for evaluation and the scope of the mandatory nature of this function. The results suggest that the praxis of the units is dominated by the macro-institutional planning exercise that uses matrices and quantitative formats that record compliance but do not evaluate effects, changes, or impact of their activities, which reduces visibility of the public value provided by state sector, and to which is also added the work accomplish by the communication units. The true evaluation in the State is limited to a few government projects registered within the National Development Plan and not to a daily action in the entire state system. Some of the planning offices even indicate that neither planning, and even less evaluation, constitute a resource that is considered as strategic, conversely, they are seen more as an operational, compliance and organization resource, and for the different areas the filling of matrices and formats to record the execution of their tasks is an additional burden. In fact, one of the difficulties raised by these offices is the planning of their annual programs with objectives that can be evaluated, a position that is also recognized by the Contraloria General de la Republica (Comptroller General of the Republic), which indicates the absence, in a relevant percentage, of objectives in public institution programs. For the communication units, this set of practices produces inertia in the communicative action, little or no influence of the communication units in the institutional decision-making process, and an operational focus on execution, which reduces their strategic role. It is also clear that there is a predominance in the use of techniques and tools for reporting results in communication that does not correspond to evaluation, measurement is used with greater emphasis, and even in some cases the use of reportings which not apply to neither of the two processes.


Author(s):  
Laura Arce-Chaves ◽  
Ramsés Alfaro-Mora

This study seeks to investigate the impact, responses and demands for support, in the face of the crisis caused by Covid 19, by entrepreneurs and organizations in the economic sectors, as well as the strategies considered to have the greatest impact on their business and that could consider necessary. The study took information from a survey that obtained a total of 138 responses, mainly located in the province of San José (50%), more than half (84.7%) include micro and small businesses and a (9, 3%) medium and large companies mostly located in a development stage in which the company achieves a degree of positioning in the market that guarantees its sustainability over time, the rest are located in the beginning and maturity stages mostly, they cover a wide range of sectors of activity. The largest number of participating entrepreneurs was found in the age range of 30 to 40 years (38%). Thus, it is found that the direct and indirect effects of covid 19 in the entrepreneurial sector of various sectors of the Costa Rican economy caused (55.7%) cuts in working hours as a practice in their businesses to face the crisis and a decrease in (67%) in the price of their products or services, experiencing a transformation in the management of business models that until before this date were usual. It is evident that the effects of the pandemic caused by COVID-19 had a strong impact on the Costa Rican productive sector, and the need for support from the businesspersons who have been affected is evident. Furthermore, for a country of 5.5 million inhabitants, the pandemic leaves more than 400 thousand people unemployed (16.4% + 11.1% underemployed), that is, 92 thousand more than before COVID 19. The worst hit groups are those of women and youth, leading them and the other unemployed to migrate to informality. 1,455 micro (1-5 employees), small (6-30 employees) and medium (31-100) closed. These companies have little chance of reopening, having to increase the figures of informality and in many cases, 2% of GDP in smuggling and illicit trade. The Costa Rican government must work to support new ventures that allow the insertion of new businesses in the formal sector, leading innovation, and competitive proposals to face new challenges. Access to soft loans, improvements in social security rates and differentiated fees for taxation should be part of the solutions. In addition, ensure that the minimum contributory rate of social security is modified for the payment for part-time work, so that the same companies hire personnel based on the hours worked and not for a single rate. It should be considered that Costa Rica is already part of the OCDE and that is going through a historic electoral process (26 presidential candidates), to put this problem in the sights of the candidates. The joint work between private sector, government, financial and educational institutions is a must. Costa Rica is walking at the edge of falling into an economic default and helping these initiatives could be a magic recipe for the economy.


Zootaxa ◽  
2021 ◽  
Vol 5083 (1) ◽  
pp. 1-72
Author(s):  
ARTURO ANGULO

The knowledge of the Costa Rican freshwater fish fauna continues to grow given the discovery of new taxa, the recognition of taxa resurrected from synonymy and the corroboration of new country records and new range extensions. Moreover, recent advances in the understanding of the phylogenetic relationships and status of many supraspecific groups have led to numerous taxonomic and nomenclatural changes. Given this, the purpose of this paper is to update the known composition, distribution and clasification of the Costa Rican freshwater fish fauna taking as reference the most recent list for the country published by Angulo et al. (2013). A total of 23 new country records (i.e., species; distributed in 17 families and 21 genera), 33 new range extensions (distributed in 20 families and 30 genera) and several nomenclatural changes are reported, illustrated and discussed here. An updated and annotated checklist of the freshwater fishes of the country (including data for a total of 283 species, 13 of which are exotic, distributed in two classes, 27 orders, 55 families and 136 genera) is also provided.  


2021 ◽  
Vol 2 (1) ◽  
pp. e593
Author(s):  
Mariela A. Porras-Chaverri ◽  
Raquel Pocasangre-Fonseca

This work presents preliminary research into determining value judgments of socioeconomic class and educational level of speakers based on the allophones of the alveolar tap /ɾ/ and trill /r/ in found in Costa Rican Spanish speech. The population of speakers is male and female professionals living in the Greater Metropolitan Area (GAM) [23-46 years]. Data was collected through written questionnaires and recordings. Speakers were asked about their linguistic attitude to their own variant. Speakers were also asked if they had had any negative experiences regarding their individual speech. Each speaker was also asked to evaluate the variant in a series of guises read by another speaker in the study population. All speakers performed the tap as vibrant in most positions; vibrant and retroflex realizations of the tap were observed before nasal. Vibrant, fricative, and retroflex variants were observed as allophones of the trill. Most speakers maintained a single variant for the alveolar tap and trill, although the variants used differed among the individual speakers. All speakers showed allophonic realizations to the alveolar tap and alveolar trills consistent with those found in Costa Rican middle or upper class. It was not possible to determine if the perception of a lower educational level could be related to a perception of the voice as that of a younger person. The main limitation of this study is that the sample of speakers is small, and that the speakers belong to similar socioeconomic backgrounds.


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