RESUMEN
Introduction The COVID- 19 pandemic discontinued sexual and reproductive health care in Chile and the world. The national focus on hospital care led primary care teams to respond in natural and diverse ways. Understanding the factors involved in this process may improve future responses from the judgment of good practices. Therefore, this study aimed to identify and systematize sexual and reproductive health initiatives raised by primary care teams in response to the COVID- 19 pandemic in Chile. Methods We systematically evaluated initiatives and practices in sexual and reproductive health in prima-ry care between June 2020 and November 2021. This study was developed in three methodological phases: a review of documents, a collection of experiences through an electronic instrument sent to the 29 health services in Chile, and in-depth interviews. According to best practice criteria, mapping and characterizing the initiatives and critical discourse analysis of narratives and interviews were carried out. Results Forty-one initiatives from 19 health services were identified, mainly from the South Central macro zone and urban areas. In these areas, care was recognized. These practices were relevant, aligned with their objectives, rapidly implemented, and used novel strategies through new technologies. However, these initiatives had little intercultural relevance or evaluation. Perceived success was related to motivation, leadership, and institutional and community resilience. The adaptability of initiatives emerged as a new need and criterion of analysis. Conclusion The lessons learned from these initiatives invite us to consider health care teams' mental health, their relationship with the community, the use of new technologies, the evaluation of practices considering satisfaction, cross- cutting approaches, and their adaptability. In all, these aspects may improve primary care response in sexual and reproductive health to new crises.
Introducción La pandemia de COVID- 19 ha implicado la discontinuidad de atención en salud sexual y reproductiva en Chile y el mundo. El foco en la contención hospitalaria de la pandemia llevó a los equipos de atención primaria a responder de manera innata y diversa. Por lo tanto, el objetivo de este estudio fue identificar y sistematizar iniciativas de salud sexual y reproductiva planteadas por equipos de atención primaria en respuesta a la pandemia COVID- 19 en Chile, con el fin de comprender y aprender de los factores involucrados en esta, para mejorar futuras respuestas desde la lógica de buenas prácticas. Metodología Estudio de sistematización de iniciativas y prácticas en salud sexual y reproductiva en atención primaria, entre junio de 2020 y noviembre de 2021. Fue desarrollado en tres fases metodológicas: revisión de documentos, recolección de experiencias a través de instrumento electrónico enviado a los 29 servicios de salud de Chile y entrevistas de profundización. Se realizó un mapeo y caracterización de las iniciativas y análisis crítico de discurso de narrativas y entrevistas, según criterios de buenas prácticas. Resultados Se identificaron 41 iniciativas de 19 servicios de salud, principalmente de la Macro Zona Centro- sur, urbanas y de reorganización de atención. Fueron prácticas pertinentes, alineadas a sus objetivos, con procesos rápidos de implementación, estrategias innovadoras, alto uso de tecnologías con escasa pertinencia intercultural ni evaluación. El éxito percibido se relacionó con motivación, liderazgo, y resiliencia institucional y comunitaria. La adaptabilidad de las iniciativas emergió como una nueva necesidad y criterio. Conclusión Son importantes los aprendizajes emanados de las iniciativas que invitan a considerar la salud mental de los equipos, su relación con la comunidad, el uso de tecnologías, la evaluación de las prácticas considerando satisfacción, enfoques transversales y la adaptabilidad de estas, para mejorar la respuesta de atención primaria en salud sexual y reproductiva ante nuevas crisis.
Asunto(s)
COVID-19 , Chile , Humanos , Pandemias , Atención Primaria de Salud , Salud ReproductivaRESUMEN
Introducción La pandemia de COVID- 19 ha implicado la discontinuidad de atención en salud sexual y reproductiva en Chile y el mundo. El foco en la contención hospitalaria de la pandemia llevó a los equipos de atención primaria a responder de manera innata y diversa. Por lo tanto, el objetivo de este estudio fue identificar y sistematizar iniciativas de salud sexual y reproductiva planteadas por equipos de atención primaria en respuesta a la pandemia COVID- 19 en Chile, con el fin de comprender y aprender de los factores involucrados en esta, para mejorar futuras respuestas desde la lógica de buenas prácticas. Metodología Estudio de sistematización de iniciativas y prácticas en salud sexual y reproductiva en atención primaria, entre junio de 2020 y noviembre de 2021. Fue desarrollado en tres fases metodológicas: revisión de documentos, recolección de experiencias a través de instrumento electrónico enviado a los 29 servicios de salud de Chile y entrevistas de profundización. Se realizó un mapeo y caracterización de las iniciativas y análisis crítico de discurso de narrativas y entrevistas, según criterios de buenas prácticas. Resultados Se identificaron 41 iniciativas de 19 servicios de salud, principalmente de la Macro Zona Centro- sur, urbanas y de reorganización de atención. Fueron prácticas pertinentes, alineadas a sus objetivos, con procesos rápidos de implementación, estrategias innovadoras, alto uso de tecnologías con escasa pertinencia intercultural ni evaluación. El éxito percibido se relacionó con motivación, liderazgo, y resiliencia institucional y comunitaria. La adaptabilidad de las iniciativas emergió como una nueva necesidad y criterio. Conclusión Son importantes los aprendizajes emanados de las iniciativas que invitan a considerar la salud mental de los equipos, su relación con la comunidad, el uso de tecnologías, la evaluación de las prácticas considerando satisfacción, enfoques transversales y la adaptabilidad de estas, para mejorar la respuesta de atención primaria en salud sexual y reproductiva ante nuevas crisis.
Introducción La pandemia de COVID- 19 ha implicado la discontinuidad de atención en salud sexual y reproductiva en Chile y el mundo. El foco en la contención hospitalaria de la pandemia llevó a los equipos de atención primaria a responder de manera innata y diversa. Por lo tanto, el objetivo de este estudio fue identificar y sistematizar iniciativas de salud sexual y reproductiva planteadas por equipos de atención primaria en respuesta a la pandemia COVID- 19 en Chile, con el fin de comprender y aprender de los factores involucrados en esta, para mejorar futuras respuestas desde la lógica de buenas prácticas. Metodología Estudio de sistematización de iniciativas y prácticas en salud sexual y reproductiva en atención primaria, entre junio de 2020 y noviembre de 2021. Fue desarrollado en tres fases metodológicas: revisión de documentos, recolección de experiencias a través de instrumento electrónico enviado a los 29 servicios de salud de Chile y entrevistas de profundización. Se realizó un mapeo y caracterización de las iniciativas y análisis crítico de discurso de narrativas y entrevistas, según criterios de buenas prácticas. Resultados Se identificaron 41 iniciativas de 19 servicios de salud, principalmente de la Macro Zona Centro- sur, urbanas y de reorganización de atención. Fueron prácticas pertinentes, alineadas a sus objetivos, con procesos rápidos de implementación, estrategias innovadoras, alto uso de tecnologías con escasa pertinencia intercultural ni evaluación. El éxito percibido se relacionó con motivación, liderazgo, y resiliencia institucional y comunitaria. La adaptabilidad de las iniciativas emergió como una nueva necesidad y criterio. Conclusión Son importantes los aprendizajes emanados de las iniciativas que invitan a considerar la salud mental de los equipos, su relación con la comunidad, el uso de tecnologías, la evaluación de las prácticas considerando satisfacción, enfoques transversales y la adaptabilidad de estas, para mejorar la respuesta de atención primaria en salud sexual y reproductiva ante nuevas crisis.
Asunto(s)
Humanos , COVID-19 , Atención Primaria de Salud , Chile , Pandemias , Salud ReproductivaRESUMEN
BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
Asunto(s)
Etnicidad/genética , Genética de Población/organización & administración , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Chile , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genotipo , Técnicas de Genotipaje , Humanos , Masculino , Filogeografía , SalivaRESUMEN
BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
Asunto(s)
Humanos , Masculino , Femenino , Etnicidad/genética , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Genética de Población/organización & administración , Saliva , Marcadores Genéticos/genética , Chile , Filogeografía , Técnicas de Genotipaje , Frecuencia de los Genes/genética , GenotipoRESUMEN
BACKGROUND: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families. MATERIALS AND METHODS: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. To evaluate a putative founder mutation 7 SNPs were analyzed in the three families, an Argentinian patient (carrier of the same mutation previously reported) and 87 Chilean controls. RESULTS: The ophthalmic symptoms in the five patients were bilateral and symmetric, starting before one year of age, and visual acuity varied from 0.1 to 0.3. In all cases, hearing loss began over 8 years old. The sequence of the 19 exons of SLC4A11 gene of all the affected patients exhibited homozygous eight nucleotide sequence duplication (c.2233_2240dup TATGACAC, p.(Ile748Metfs*5)) at the end of exon 16. All the affected patients of the three families were homozygous for a haplotype composed of five SNPs and covering 4,1 Mb. The same haplotype was present in one allele of the heterozygous Argentinean patient and has a frequency of 2.76% in Chilean population. CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation.
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Proteínas de Transporte de Anión/genética , Antiportadores/genética , Distrofias Hereditarias de la Córnea/diagnóstico , Distrofias Hereditarias de la Córnea/genética , Efecto Fundador , Duplicación de Gen/genética , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Polimorfismo de Nucleótido Simple , Adolescente , Adulto , Anciano , Audiometría , Emparejamiento Base , Niño , Consanguinidad , Análisis Mutacional de ADN , Exones/genética , Femenino , Haplotipos , Heterocigoto , Homocigoto , Humanos , Masculino , Linaje , Agudeza Visual/fisiología , Adulto JovenRESUMEN
PURPOSE: To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members. METHODS: Five family members affected with NPS and two unaffected members underwent a complete ophthalmologic examination, including computerized visual field, optical coherence tomography (OCT) of the optic disc and ultrasound pachymetry. Renal function was assessed by urinalysis and blood tests. Orthopedic evaluations were also performed, including radiological studies of the wrist, elbow and hip joints. Genomic DNA was extracted from peripheral leukocytes of the five affected and two unaffected family members. Exons 2-6 of the LIM homeobox transcription factor 1-beta (LMX1B) gene were screened for mutations by DNA sequencing of the proband. We also screened for mutations in exon 2 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) of the other participants and 91 blood donors. RESULTS: Five living family members from three generations were positively diagnosed with NPS, three of them with varying degrees of OAG and one with OHT. Retinal nerve fiber layer (RNFL) thickness measured by spectral domain OCT was below normal values in three individuals. All subjects evaluated had normal nephrologic function. Orthopedic, clinical, and radiological alterations were compatible with NPS. Screening for mutations in exons 2- 6 of LMX1B showed a heterozygous missense mutation c.194 A>C changing glutamine to proline within exon 2 in codon 65 (Q65P) of the coding sequence. This mutation was present in all NPS subjects and absent in the unaffected family members and in 91 Chilean blood donors. CONCLUSIONS: This is the first report of c.194 A>C mutation in LMX1B in a Chilean family with NPS and the second worldwide. The phenotype associated with this mutation is variable within the family, although we noted a close connection between the presence of the c.194 A>C mutation and the presence of OHT or OAG and probably also with an early onset of OHT in patients with NPS. All subjects older than 21 years had either OHT or OAG. We also suggest that the LMX1B mutation may be related to affective disorders.