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Objective: Analyze facilitating processes, obstacles, and effects of the implementation of non-pharmacological public health measures for the prevention of COVID-19 in child and adolescent protection centers in two departments (Antioquia and La Guajira) in Colombia during the period 2020-2021. Methods: Mixed methods study with a convergent parallel design in 13 residential child/adolescent protection facilities in Colombia (11 in Antioquia and two in La Guajira). A questionnaire was given to 145 children and adolescents, and 23 interviews were held with persons responsible for the implementation of measures in the national family welfare system. Results: The implemented non-pharmacological public health measures did not differ by department; the most complex to implement were physical distancing and restriction of family visits. Conclusions: In centers for the protection of children and adolescents in Antioquia and La Guajira, non-pharmacological public health measures helped mitigate the spread of the virus in environments considered at-risk.
Objetivo: Analisar os processos que facilitam e dificultam a implementação de medidas não farmacológicas de saúde pública para a prevenção da COVID-19 em centros de proteção de crianças e adolescentes em dois departamentos (Antioquia e La Guajira) da Colômbia, e os efeitos de tal implementação, durante o período 2020-2021. Métodos: Estudo de métodos mistos com delineamento paralelo convergente em 13 internatos para a proteção de crianças e adolescentes na Colômbia (11 em Antioquia e 2 em La Guajira). Foi aplicado um questionário a 145 crianças e adolescentes, e foram realizadas 23 entrevistas com os responsáveis pela implementação das medidas do sistema nacional de bem-estar familiar. Resultados: As medidas não farmacológicas de saúde pública implementadas não diferiram por departamento. As mais complexas de serem aplicadas foram o distanciamento físico e a restrição de visitas familiares. Conclusões: Nos centros de proteção de crianças e adolescentes de Antioquia e La Guajira, medidas não farmacológicas de saúde pública contribuíram para mitigar a propagação do vírus em ambientes considerados de risco.
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Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p]) is a relatively uncommon complex chromosomal rearrangement, with an estimated incidence of 1 in 10,000-30,000 live borns. The chromosomal rearrangement consists of a deletion of the telomeric region (8p23-pter) and an inverted duplication of the 8p11.2-p22 region. Clinical manifestations of this disorder include severe to moderate intellectual disability and characteristic facial features. In most cases, there are also CNS associated malformations and congenital heart defects. In this work, we present the cytogenetic and molecular characterization of seven children with invdupdel(8p) rearrangements. Subsequently, we have carried out genotype-phenotype correlations in these seven patients. The majority of our patients carry a similar deletion but different size of duplications; the latter probably explaining the phenotypic variability among them. We recommend that complete clinical evaluation and detailed chromosomal microarray studies should be undertaken, enabling appropriate genetic counseling.
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Anomalías Múltiples/genética , Cromosomas Humanos Par 8/genética , Citogenética/métodos , Discapacidad Intelectual/genética , Anomalías Múltiples/fisiopatología , Niño , Preescolar , Deleción Cromosómica , Duplicación Cromosómica/genética , Inversión Cromosómica/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Discapacidad Intelectual/fisiopatología , Masculino , Telómero/genéticaRESUMEN
Children and adolescents with intellectual disabilities (ID) often encounter difficulties with narrative skills. Yet, there is a lack of research focusing on how to assess these skills in this population. This study offers an overview of the tools used for assessing oral narrative skills in children and adolescents with ID, addressing key questions about common assessment tools, their characteristics, and reported evidence. A systematic review was conducted of the literature published between 2010 and 2023 in the PsycINFO, ERIC, Education, and Psychology databases. An initial 1176 studies were reviewed by abstract, of which 485 were read in full text, leading to the selection and analysis of 22 studies. Most of the identified tools involve analyzing language samples obtained using wordless picture story books. Three common tools are emphasized. Studies have primarily identified inter-rater reliability and test-criterion evidence for validity. The main tools and their characteristics are discussed in depth to aid readers in discerning suitable options for research or practical applications. The importance of reporting diverse sources of evidence for validity and reliability within this population is highlighted.
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RESUMEN Objetivo. Analizar los procesos facilitadores y obstaculizadores y los efectos de la implementación de las medidas de salud pública no farmacológicas para la prevención de la COVID-19 en los centros de protección de la infancia y la adolescencia de dos departamentos (Antioquia y la Guajira) de Colombia durante el período 2020-2021. Métodos. Estudio de métodos mixtos con un diseño paralelo convergente en 13 internados de protección de la infancia y adolescencia de Colombia (11 en Antioquia y 2 en La Guajira). Se aplicó un cuestionario a 145 niñas, niños y adolescentes y 23 entrevistas a mediadores de la implementación de las medidas del sistema nacional de bienestar familiar. Resultados. Las medidas de salud pública no farmacológicas implementadas no difieren por departamento; las más complejas para aplicar fueron el distanciamiento físico y la restricción de las visitas familiares. Conclusiones. En los centros de protección de la infancia y la adolescencia de Antioquia y la Guajira, las medidas de salud pública no farmacológicas contribuyeron a mitigar la propagación del virus en entornos considerados de riesgo.
ABSTRACT Objective. Analyze facilitating processes, obstacles, and effects of the implementation of non-pharmacological public health measures for the prevention of COVID-19 in child and adolescent protection centers in two departments (Antioquia and La Guajira) in Colombia during the period 2020-2021. Methods. Mixed methods study with a convergent parallel design in 13 residential child/adolescent protection facilities in Colombia (11 in Antioquia and two in La Guajira). A questionnaire was given to 145 children and adolescents, and 23 interviews were held with persons responsible for the implementation of measures in the national family welfare system. Results. The implemented non-pharmacological public health measures did not differ by department; the most complex to implement were physical distancing and restriction of family visits. Conclusions. In centers for the protection of children and adolescents in Antioquia and La Guajira, non-pharmacological public health measures helped mitigate the spread of the virus in environments considered at-risk.
RESUMO Objetivo. Analisar os processos que facilitam e dificultam a implementação de medidas não farmacológicas de saúde pública para a prevenção da COVID-19 em centros de proteção de crianças e adolescentes em dois departamentos (Antioquia e La Guajira) da Colômbia, e os efeitos de tal implementação, durante o período 2020-2021. Métodos. Estudo de métodos mistos com delineamento paralelo convergente em 13 internatos para a proteção de crianças e adolescentes na Colômbia (11 em Antioquia e 2 em La Guajira). Foi aplicado um questionário a 145 crianças e adolescentes, e foram realizadas 23 entrevistas com os responsáveis pela implementação das medidas do sistema nacional de bem-estar familiar. Resultados. As medidas não farmacológicas de saúde pública implementadas não diferiram por departamento. As mais complexas de serem aplicadas foram o distanciamento físico e a restrição de visitas familiares. Conclusões. Nos centros de proteção de crianças e adolescentes de Antioquia e La Guajira, medidas não farmacológicas de saúde pública contribuíram para mitigar a propagação do vírus em ambientes considerados de risco.
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In this work, we present the results of the screening of human mitochondrial DNA (mtDNA) heteroplasmy in the control region of mtDNA from 210 unrelated Spanish individuals. Both hypervariable regions of mtDNA were amplified and sequenced in order to identify and quantify point and length heteroplasmy. Of the 210 individuals analyzed, 30% were fully homoplasmic and the remaining presented point and/or length heteroplasmy. The prevalent form of heteroplasmy was length heteroplasmy in the poly(C) tract of the hypervariable region II (HVRII), followed by length heteroplasmy in the poly(C) tract of hypervariable region I (HVRI) and, finally, point heteroplasmy, which was found in 3.81% of the individuals analyzed. Moreover, no significant differences were found in the proportions of the different kinds of heteroplasmy in the population when blood and buccal cell samples were compared. The pattern of heteroplasmy in HVRI and HVRII presents important differences. Moreover, the mutational profile in heteroplasmy seems to be different from the mutational pattern detected in population. The results suggest that a considerable number of mutations and, particularly, transitions that appear in heteroplasmy are probably eliminated by drift and/or by selection acting at different mtDNA levels of organization. Taking as a whole the results reported in this work, it is mandatory to perform a broad-scale screening of heteroplasmy to better establish the heteroplasmy profile which would be important for medical, evolutionary, and forensic proposes.
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ADN Mitocondrial/genética , Secuencia de Bases , ADN Mitocondrial/clasificación , HumanosRESUMEN
We analyzed the control region of the mitochondrial DNA (mtDNA) from maternally related individuals originating from the Azores Islands (Portugal) in order to estimate the mutation rate of mtDNA and to gain insights into the process by which a new mutation arises and segregates into heteroplasmy. Length and/or point heteroplasmies were found at least in one individual of 72% of the studied families. Eleven new point substitutions were found, all of them in heteroplasmy, from which five appear to be somatic mutations and six can be considered germinal, evidencing the high frequency of somatic mutations in mtDNA in healthy young individuals. Different values of the mutation rate according to different assumptions were estimated. When considering all the germinal mutations, the value of the mutation rate obtained is one of the highest reported so far in family studies. However, when corrected for gender (assuming that the mutations present in men have the same evolutionary weight of somatic mutations because they will inevitably be lost) and for the probability of intraindividual fixation, the value for the mutation rate obtained for HVRI and HVRII (0.2415 mutations/site/Myr) was in the upper end of the values provided by phylogenetic estimations. These results indicate that the discrepancy, that has been reported previously, between the human mtDNA mutation rates observed along evolutionary timescales and the estimations obtained using family pedigrees can be minimized when corrections for gender proportions in newborn individuals and for the probability of intraindividual fixation are introduced. The analyses performed support the hypothesis that (1) in a constant, tight bottleneck genetic drift alone can explain different patterns of heteroplasmy segregation and (2) in neutral conditions, the destiny of a new mutation is strictly related to the initial proportion of the new variant. Another important point arising from the data obtained is that, even in the absence of a paternal contribution of mtDNA, recombination may occur between mtDNA molecules present in an individual, which is only observable if it occurs between mtDNA types that differ at two or more positions.
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ADN Mitocondrial , Mutación , Azores , Evolución Biológica , Clonación Molecular , Análisis Mutacional de ADN , ADN Mitocondrial/genética , Evolución Molecular , Femenino , Flujo Genético , Humanos , Masculino , Modelos Genéticos , Modelos Estadísticos , Linaje , Filogenia , Análisis de Secuencia de ADNRESUMEN
En el período comprendido entre julio septiembre de 1999, se realizó un muestreo de leche en el municipio de San Pedro de los Milagros, con el fin de medir la prevalencia de mastitis en la zona por medio de California Mastitis Test (CMT). El muestreo comprendió un grupo de 112 vacas lactantes escogidas al azar, provenientes de 15 veredas, a las cuales se les realizó C.M.T. por cuarto. A las vacas positivas o con un resultado sospechoso se les tomó muestra de leche para realizar recuento celular, cultivo y antibiograma. Los datos obtenidos se presentan en forma descriptiva; fue utilizada la prueba estadística chi cuadrado, para medir el grado de asociación de algunas variables. La prevalencia de mastitis por cuarto en el municipio fue de 12.3 por ciento (55 cuartos con resultado igual o mayor a trazas). Entre los cuartos afectados del total de los muestreados, el resultado del CMT más frecuentemente hallado fue el de dos cruces con un 4.4 por ciento. En los cuartos muestreados para cultivo, la bacteria más frecuentemente aislada fue Streptococcus agalactiae, seguida de Estafilococo coagulasa negativo y Staphylococccus aureus con un 47 por ciento, 14,6 por ciento, y 13 por ciento respectivamente. En el antibiograma realizado se encontró que del total de muestras positivas a Str. agalactiae un 19.3 por ciento mostró resistencia a la penicilina. La prevalencia de mastitis por cuarto en la zona no fue muy alta, si se tiene en cuenta que un porcentaje importante de productores no está realizando las mínimas medidas de higiene al ordeño como lavado y secado de la ubre (57.1 por ciento) y la desinfección postordeño (42.9 por ciento). Aunque las bacterias aisladas son las más frecuentemente reportadas en otros trabajos realizados en nuestro país y en resultados aislados reportados por clínicos de campo de la misma zona, es importante resaltar la resistencia que están adquiriendo las bacterias, para nuestro caso el Str. agalactiae a la penicilina; sin embargo...