[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. / Desigualdades en el tiempo hasta el diagnóstico del síndrome de Down en Bolivia.

Down Syndrome is the most common genetic condition and a leading cause of intellectual disability. Individuals in rural areas, particularly those with disabilities, often face disparities in healthcare access. Analyzing clinical records of patients diagnosed with Down Syndrome between 2013 and 2022 by the Institute of Genetics at the Universidad Mayor de San Andrés in La Paz, Bolivia, this study examined the time to diagnosis for 250 patients with Down Syndrome. The findings revealed that patients from rural areas with Down Syndrome take an average of five months to receive a diagnosis, compared to two months in urban areas (p<0.001). No significant differences were found in the time to diagnosis based on gender. However, a higher proportion of males from rural areas was observed (p=0.03). The results suggest that individuals in rural areas face challenges in receiving a timely diagnosis. On the other hand, women may not be brought to cities for proper diagnosis and treatment due to gender biases in certain communities. The importance of improving access to early diagnosis and treatment in rural areas is emphasized.

El síndrome de Down es la condición genética más común y una causa principal de discapacidad intelectual. Las personas en áreas rurales, especialmente aquellas con discapacidades, a menudo enfrentan desigualdades en el acceso a la salud. A partir de los registros clínicos de pacientes con diagnóstico confirmado de síndrome de Down entre 2013 y 2022, por el Instituto de Genética de la Universidad Mayor de San Andrés, La Paz, Bolivia, se analizó, analizó el tiempo hasta el diagnóstico de 250 pacientes con síndrome de Down, mostró que los pacientes procedentes de áreas rurales con síndrome de Down tardan cinco meses en promedio en recibir un diagnóstico, comparado a los dos meses en zonas urbanas (p<0,001). No se encontraron diferencias significativas en el tiempo hasta el diagnostico según el sexo. Sin embargo, se evidenció una mayor proporción de varones provenientes de áreas rurales (p=0,03). Los hallazgos sugieren que los individuos de áreas rurales enfrentan dificultades para recibir el diagnóstico. Por otro lado, las mujeres quizás no sean llevadas a ciudades para un diagnóstico y tratamiento adecuado debido a sesgos de género en ciertas comunidades. Se subraya la importancia de mejorar el acceso a diagnósticos y tratamientos tempranos en áreas rurales.

Desigualdades en el tiempo hasta el diagnóstico del síndrome de Down en Bolivia / Inequalities in time to diagnosis of Down Syndrome in Bolivia

RESUMEN El síndrome de Down es la condición genética más común y una causa principal de discapacidad intelectual. Las personas en áreas rurales, especialmente aquellas con discapacidades, a menudo enfrentan desigualdades en el acceso a la salud. A partir de los registros clínicos de pacientes con diagnóstico confirmado de síndrome de Down entre 2013 y 2022, por el Instituto de Genética de la Universidad Mayor de San Andrés, La Paz, Bolivia, se analizó, analizó el tiempo hasta el diagnóstico de 250 pacientes con síndrome de Down, mostró que los pacientes procedentes de áreas rurales con síndrome de Down tardan cinco meses en promedio en recibir un diagnóstico, comparado a los dos meses en zonas urbanas (p<0,001). No se encontraron diferencias significativas en el tiempo hasta el diagnostico según el sexo. Sin embargo, se evidenció una mayor proporción de varones provenientes de áreas rurales (p=0,03). Los hallazgos sugieren que los individuos de áreas rurales enfrentan dificultades para recibir el diagnóstico. Por otro lado, las mujeres quizás no sean llevadas a ciudades para un diagnóstico y tratamiento adecuado debido a sesgos de género en ciertas comunidades. Se subraya la importancia de mejorar el acceso a diagnósticos y tratamientos tempranos en áreas rurales.

ABSTRACT Down Syndrome is the most common genetic condition and a leading cause of intellectual disability. Individuals in rural areas, particularly those with disabilities, often face disparities in healthcare access. Analyzing clinical records of patients diagnosed with Down Syndrome between 2013 and 2022 by the Institute of Genetics at the Universidad Mayor de San Andrés in La Paz, Bolivia, this study examined the time to diagnosis for 250 patients with Down Syndrome. The findings revealed that patients from rural areas with Down Syndrome take an average of five months to receive a diagnosis, compared to two months in urban areas (p<0.001). No significant differences were found in the time to diagnosis based on gender. However, a higher proportion of males from rural areas was observed (p=0.03). The results suggest that individuals in rural areas face challenges in receiving a timely diagnosis. On the other hand, women may not be brought to cities for proper diagnosis and treatment due to gender biases in certain communities. The importance of improving access to early diagnosis and treatment in rural areas is emphasized.

Novel Kinetic Resolution of Thiazolo-Benzimidazolines Using MAO Enzymes.

The kinetic resolution of racemic 1H,3H-thiazolo[3,4-a]benzimidazoline (TBIM) heterocycles was achieved using E. coli whole cells expressing the MAO-N D11 enzyme. Several cosolvents were screened using TBIM 2a as the substrate. DMF was the best cosolvent, affording the pure enantiomer (+)-2a in 44% yield, 94% ee. The stereochemistry of TBIM was predicted by means of ab initio calculations of optical rotation and circular dichroism spectra. The reaction scope was investigated for 11 substituted (±) TBIM using an optimized protocol. The best yield and % ee were obtained for the nonsubstituted 2a. Among the substituted compounds, the 5-substituted-TBIM showed better % ee than the 4-substituted one. The small electron donor group (Me) led to better % ee than the electron-withdrawing groups (-NO2 and -CO2Et), and the bulky naphthyl group was detrimental for the kinetic resolution. Docking experiments and molecular dynamics (MD) simulations were employed to further understand the interactions between MAO-N D11 and the thiazolo-benzimidazoline substrates. For 2a, the MD showed favorable positioning and binding energy for both enantiomers, thus suggesting that this kinetic resolution is influenced not only by the active site but also by the entry tunnel. This work constitutes the first report of the enzymatic kinetic resolution applied to TBIM heterocycles.

The Rhizopus Holobiont: A Model to Decipher Fungal-Bacterial-Viral Symbioses.

Rhizopus microsporus is an early-diverging fungal species that inhabits the soil, is used for the fermentation of diverse Asian and African foods, and can be a pathogen of plants, animals, and humans.Toxin-producing strains of R. microsporus live in symbiosis with Gram-negative betaproteobacteria from the genus Mycetohabitans (Burkholderia sensu lato). These bacterial endosymbionts increase the metabolic plasticity of the fungal holobiont by producing the "mycotoxins," control their asexual reproduction, and influence their sexual success. Recently, we identified two viruses of the genus Narnavirus in some R. microsporus strains that harbor Mycetohabitans. By eliminating bacteria and/or viruses from host R. microsporus strains, we have been able to study the role of these symbionts in fungal biology. Remarkably, the absence of these bacterial and viral symbionts decreases sexual reproduction. In this chapter, the method developed to eliminate and genotype the Narnavirus RmNV-20S and RmNV-23S in R. microsporus is described in detail.

Addition of clinoptilolite in the diet reduces uterine PMN leukocytes and open days in multiparous lactating dairy cows managed in a mountain tropical pasture-based system.

This study aimed to assess the effect of adding clinoptilolite in the diet on uterine health and reproductive performance in multiparous lactating dairy cows managed in a tropical pasture-based system above 2500 m of altitude. Seventy-seven multiparous Holstein crossbred cows from two farms were allocated randomly into two groups: clinoptilolite supplemented cows (CLG, n = 42) and non-supplemented cows as control (CG, n = 35). Cows from CLG were supplemented with clinoptilolite from 30 days (50 g/cow/day) before to 60 days after calving (200 g/cow/day). In CLG cows, percentages of uterine PMN leukocytes (P < 0.0001) and proportion of subclinical endometritis (P = 0.0187) were lower than in CG. The interval calving to first corpus luteum was shorter (P = 0.0759) in CLG than CG, and calving to first service interval was similar between treatments. Cows from CLG became pregnant 35 days earlier than CG cows (P = 0.0224). On farm A, calving to conception interval was 18.1 days longer in CLG than in CG (P = 0.3750); in farm B, this interval was 86.2 days shorter in CLG than in CG (P = 0.0002). In conclusion, daily addition of clinoptilolite in the diet decreased the percentage of uterine PMN leukocytes, the proportion of cows with subclinical endometritis, and shortened the calving-conception interval in multiparous lactating dairy cows.

Symbiotic and toxinogenic Rhizopus spp. isolated from soils of different papaya producing regions in Mexico.

Mucoralean fungi from the genus Rhizopus are common inhabitants of terrestrial ecosystems, being some pathogens of animals and plants. In this study, we analyzed the symbiotic and toxinogenic potential of Rhizopus species derived from agricultural soils dedicated to the production of papaya (Carica papaya L.) in Mexico. Four representative strains of soil-derived Rhizopus spp. were analyzed employing molecular, microscopic, and metabolic methods. The ITS phylogenies identified the fungi as Rhizopus microsporus HP499, Rhizopus delemar HP475 and HP479, and Rhizopus homothallicus HP487. We discovered that R. microsporus HP499 and R. delemar HP475 harbor similar endofungal bacterial symbionts that belong to the genus Mycetohabitans (Burkholderia sensu lato) and that none of the four fungi were associated with Narnavirus RmNV-20S and RmNV-23S. Intriguingly, the interaction between R. delemar - Mycetohabitans showed different phenotypes from known R. microsporus - Mycetohabitans symbioses. Elimination of bacteria in R. delemar HP475 did not cause a detrimental effect on fungal growth or asexual reproduction. Moreover, metabolic and molecular analyses confirmed that, unlike symbiotic R. microsporus HP499, R. delemar HP475 does not produce rhizoxin, one of the best-characterized toxins produced by Mycetohabitans spp. The rhizoxin (rhi) biosynthetic gene cluster seems absent in this symbiotic bacterium. Our study highlights that the symbioses between Rhizopus and Mycetohabitans are more diverse than anticipated. Our findings contribute to expanding our understanding of the role bacterial symbionts have in the pathogenicity, biology and evolution of Mucorales.

Frecuencia de discapacidad intelectual de etiología genética debida a rearreglos cromosómicos crípticos / Frequency of intellectual disability of genetic etiology due to cryptic chromosome arrangements

Introducción: la discapacidad intelectual se considera un problema de salud pública global, la prevalencia oscila entre el 1% al 3% de la población mundial, cifra de la que se estima el origen genético estaría representado por el 5-7% de síndromes subteloméricos. El objetivo de la presente investigación fue determinar la frecuencia de discapacidad intelectual de etiología genética debida a rearreglos cromosómicos crípticos en 69 pacientes del IDAI. Material y Métodos. El estudio descriptivo de corte transversal se realizó en el Instituto de Genética en 69 pacientes con discapacidad intelectual de 5 a 18 años del Instituto de Adaptación Infantil (IDAI). El estudio fue dividido en tres etapas, la primera consistió en la elaboración de la historia clínica genética, seguidamente, se realizó el estudio de cariotipo en sangre periférica a todos los pacientes, finalmente, con la sospecha diagnóstica se realizó citogenética molecular a nueve de ellos, empleando una sonda locus específica. Resultados. Se encontró 43.48% de rearreglos cromosómicos, 24.67% correspondió a síndromes crípticos, de estos el 7.25% respondió a síndromes subteloméricos. Se observó mayor afectación en la población masculina: 45 hombres (65%) y 24 mujeres (35%), obteniendo una razón de sexo de 1.88 a favor del sexo masculino. Conclusiones. Se debe considerar la causa genética en toda discapacidad intelectual idiopática, sobre todo la debida a rearreglos cromosómicos crípticos . Para confirmar la sospecha diagnóstica se emplean técnicas de citogenética clásica y de hibridación fluorescente in situ , de esta manera se llega a un diagnóstico más preciso para coadyuvar en el asesoramiento genético del paciente.

Introduction. Intellectual disability is considered a global public health problem, the prevalence ranges from 1% to 3% of the world population, a figure whose genetic origin is estimated to be represented by 5-7% of subtelomeric syndromes. The objective of this research was to determine the frequency of intellectual disability of genetic etiology due to cryptic chromosomal rearrangements in 69 patients of IDAI. Material and methods. The descriptive cross-sectional study was carried out at the Institute of Genetics in 69 patients with intellectual disabilities from 5 to 18 years of age from the Institute for Child Adaptation (IDAI). The study was divided into three stages, the first consisted of preparing the genetic clinical history, then peripheral blood karyotyping was performed on all patients, finally, with suspected diagnosis, molecular cytogenetics was performed on nine of them, using a locus-specific probe. Results. 43.48% of chromosomal rearrangements were found, 24.67% corresponded to cryptic syndromes, of these 7.25% responded to subtelomeric syndromes. Greater involvement was observed in the male population: 45 men (65%) and 24 women (35%), obtaining a sex ratio of 1.88 in favor of the male sex. Conclusions. The genetic cause must be considered in all idiopathic intellectual disability, especially that due to cryptic chromosomal rearrangements. To confirm the diagnostic suspicion, classical cytogenetics and fluorescent in situ hybridization techniques are used, thus reaching a more precise diagnosis to assist in the genetic counseling of the patient.

Effects of precarious work on symptomatology of anxiety and depression in Chilean workers, a cross sectional study.

BACKGROUND: Precarious work is a broad definition for non-standard employment, often including unstable and insecure positions where workers permanently experience uncertainty; these types of jobs are growing steadily around the planet. Since the coup d'état in 1973, Chile has experienced a series of structural economic changes framed by neoliberal ideas cemented in the "Constitution of Pinochet." Precarious work in Chile is a direct consequence of these ideas. This multidimensional phenomenon has progressively been entering employment areas where it was not previously present. As a result, there has been a rise in work precarization and its full impact on health is not well known. The goal of this study was to estimate the association of work precariousness with mental health outcomes in Chilean workers. METHODS: Data were obtained from the Chilean Survey of Work and Health 2009-2010 (ENETS). Only valid records of salaried workers (excluding hourly-only or commission-only workers) in the private sector without missing values were included (n = 1900). After applying appropriate sampling weights, 1,461,727 workers were represented. Mental health was estimated as anxiety/depression levels using the 12-item General Health Questionnaire (GHQ-12). A multilevel multivariate generalized linear mixed model (GLMM) with negative binomial and log link distribution was used to study the association between precariousness and depression/anxiety. RESULTS: Looking at the overall precariousness scale (range from zero to four), we observed an increase of approximately 34% in the depression/anxiety score (scale range from 0 to 36) for every unit on the precarious work overall scale (Relative Risk = 1.34, 95% CI = 1.28, 1.42) controlling for age, sex, and occupational group. CONCLUSION: Precarious work was associated with anxiety and depression as measured with the 12-item General Health Questionnaire. Controlling for demographic variables changed neither the direction nor the magnitude of the association.

Factors associated with academic performance in undergraduate health sciences students enrolled in the human anatomy course / Factores asociados al rendimiento académico en la asignatura de anatomía humana en estudiantes de pregrado de ciencias de la salud

Abstract Introduction: Human anatomy is a core subject that poses a great academic challenge for students who are admitted to the health sciences undergraduate degree programs. Objective: To know the socio-academic profile of first-year students of several health sciences undergraduate programs and to assess the association between, on the one hand, academic performance during secondary education, study habits and performance in the university admission science test, and, on the other, academic performance in the human anatomy course. Materials and methods: Cross-sectional correlational study conducted in 2018. The study population consisted of 306 first-year students enrolled in 7 health sciences undergraduate programs offered by the Faculty of Medical Sciences of a public university in Santiago de Chile, Chile. The Pearson correlation coefficient was used to determine the correlation between the variables of interest. Also, a multiple linear regression analysis was performed to establish the factors significantly associated with the final grade obtained in the course. A level of significance of p<0.05 was considered. Results: The mean age of the participants was 19.8 years, 98.6% were single, and 65.3% were female. A significant association was observed between the final grade obtained in the course and the score obtained in the university admission test (p=0.000) and the high school grade point average (p=0.001); however, this association was not significant with the variables considered as study habits. Conclusion: Academic performance in the human anatomy course was associated with the students' prior knowledge, but not with their study habits. Thus, educational interventions in this university should focus more on leveling students' knowledge, rather than on optimizing their study habits.

Resumen Introducción. Anatomía humana es una asignatura básica que representa un gran desafío académico para los estudiantes que ingresan a programas de pregrado en ciencias de la salud. Objetivos. Conocer el perfil socioacadémico de los estudiantes de primer año de varios programas de ciencias de la salud y evaluar la asociación entre, por un lado, el desempeño académico en la enseñanza media, los hábitos de estudio y el desempeño en la prueba de selección universitaria de ciencias y, por el otro, el rendimiento académico en la asignatura de anatomía humana. Materiales y métodos. Estudio transversal correlacional realizado en 2018. La población de estudio consistió de 306 estudiantes de primer año de 7 programas de pregrado de ciencias de la salud ofrecidos por la Facultad de Ciencias Médicas de una universidad pública en Santiago de Chile, Chile. La correlación entre las variables de interés se determinó mediante el coeficiente de correlación de Pearson. Además, se realizó un análisis de regresión lineal múltiple para establecer los factores asociados significativamente con la nota final de la materia. Se consideró un nivel de significancia de p<0.05. Resultados. La edad promedio de los participantes fue 19.8 años, 98.6% eran solteros y 65.3% eran mujeres. Se observó una asociación significativa entre la nota final de la asignatura y el puntaje de la prueba de selección universitaria de ciencias (p=0.000) y el promedio de notas de enseñanza media (p=0.001), pero no con las variables consideradas como hábitos de estudio. Conclusiones. El rendimiento académico en la asignatura de anatomía humana se asoció con los conocimientos previos de los estudiantes, pero no con sus hábitos de estudio. Por tanto, se recomienda que las intervenciones educativas en esta universidad se centren más en la nivelación de los conocimientos de los estudiantes, que en la optimización de sus hábitos de estudio.

Nanostructured chitosan edible coating loaded with α-pinene for the preservation of the postharvest quality of Capsicum annuum L. and Alternaria alternata control.

Bell peppers are susceptible to postharvest diseases caused by the fungus Alternaria alternata that limit its commercialization. Nowadays, nanotechnology allows encapsulation of natural components such as terpenes. The objective of this work was to develop chitosan nanoparticles with α-pinene (P-CSNPs) and a nanostructured edible coating (EC-P-CSNPs). The P-CSNPs were characterized by TEM (Transmission Electron Microscopy), FTIR (Fourier-Transform Infrared Spectroscopy), DLS (Dynamic Light Scattering) and ζ potential. The P-CSNPs and the EC-P-CSNPs were applied to the bell peppers inoculated with A. alternata under cold storage for either 0, 7, 14 and 21 days at 12 ±â€¯2 °C followed by a shelf-life period of 5 days at 20 ±â€¯2 °C to assess their post-harvest quality. Nanoparticles size was 3.9 ±â€¯0.5 nm and the ζ potential value was between 13.4 and 14.9 mV. The incorporation of α-pinene was corroborated by FTIR. Significant changes in weight loss were obtained for P-CSNPs and EC-P-CSNPs at percentage of 3 and 6% compared to the control. For firmness, color, total soluble solids, titratable acids, maturity index, total flavonoid content and antioxidant capacity, no differences were found. Total carotenes were higher in bell peppers without A. alternata. The chitosan nanoparticles and edible coating inhibited A. alternata during the cold storage period of bell pepper and preserved the physicochemical quality.

Ética, derecho y regulación de la investigación biomédica en Chile / Ethics, law and the regulation of biomedical research in Chile / Ética, direito e regulamentação da pesquisa biomédica no Chile

Resumen El presente trabajo analiza la relación entre ética y derecho en la regulación de la investigación biomédica en Chile. Para ello, se lleva a cabo un estudio comparativo entre el marco legal chileno y las principales normativas éticas internacionales ( Declaración de Helsinki y Pautas del Consejo de Organizaciones Internacionales de las Ciencias Médicas), teniendo como referente los requisitos para evaluar una investigación biomédica propuestos por Emanuel, Wendler y Grady. Se examinan y comentan tensiones e inconsistencias entre estos ámbitos regulatorios, en particular aquellas donde la legislación chilena tiene vacíos, falencias o es más exigente que el estándar ético internacional. Se concluye con sugerencias para mejorar la regulación jurídica chilena, entre las que se incluyen fortalecer el rol deliberativo de los comités ético-científicos y sistematizar el marco relacionado con investigación con el fin de lograr un cuerpo legal más orgánico y completo.

Abstract This article analyzes the relationship between ethics and law in the regulation of biomedical research in Chile. To this end, a comparative study was carried out on the main international ethical regulations ( Declaration of Helsinki and Guidelines of the Council for International Organizations of Medical Sciences), having as a reference the ethical requirements for assessing biomedical research proposed by Emanuel, Wendler and Grady. The tensions and inconsistencies found between the two regulatory areas are evaluated and commented, especially those in which the Chilean legislation presents legal gaps, deficiencies or is more demanding than the international ethical standard. We make some suggestions for improving the Chilean legal regulation of biomedical research, including strengthening the deliberative role of ethics committees and systematizing the legal framework related to research to achieve a more structured and complete legal body.

Resumo Este trabalho analisa a relação entre ética e direito na regulamentação da pesquisa biomédica no Chile. Para isso, realizou-se estudo comparativo entre o marco legal chileno e as principais regulamentações éticas internacionais ( Declaração de Helsinki e Diretrizes do Conselho de Organizações Internacionais de Ciências Médicas), tendo como referência os requisitos éticos propostos por Emanuel, Wendler e Grady para avaliar pesquisas biomédicas. São analisadas e comentadas tensões e inconsistências entre essas áreas regulatórias, particularmente aquelas em que a legislação chilena apresenta lacunas, deficiências ou é mais exigente do que o padrão ético internacional. Concluímos com sugestões para aprimorar a regulamentação legal chilena, incluindo o fortalecimento do papel deliberativo dos comitês de ética em pesquisa e a sistematização do arcabouço normativo relacionado à pesquisa, a fim de alcançar legislação mais estruturada e completa.

Intrauterine therapy with ozone reduces subclinical endometritis and improves reproductive performance in postpartum dairy cows managed in pasture-based systems.

New postpartum strategies have been developed in dairy cows to ameliorate uterine health and reproductive performance, especially the first service conception rates. This study aimed to assess the effect of intrauterine therapy with ozone (IUTO) in early postpartum on subclinical endometritis prevalence and reproductive parameters in dairy cows under commercial farm conditions. For this purpose, eighty clinically healthy cows with a body condition score between 3.0 and 3.5, from four dairy farms, were randomly allocated into two groups: ozone therapy group (OG, n = 40), which were subjected to IUTO, and control group (CG, n = 40). Content of uterine polymorphonuclear (PMN) leukocytes and subclinical endometritis (SE) percentage were assessed at 35 days after calving by uterine cytology. A second cytology was performed 72 h after IUTO. Reproductive parameters such as interval calving to first service (IFS), number of services per conception (nSC), interval calving to conception (ICC) and first service conception rate (FSCR) were analysed. The second endometrial cytology demonstrated that IUTO reduced (P < 0.01) both PMN (3.7 ± 1.4 vs. 7.6 ± 1.1%) and SE (5.0 vs. 50.0%) percentages compared with CG. Likewise, after ozone treatment, both nSC (2.1 ± 0.3 vs. 3.1 ± 0.2; P < 0.01) and ICC (126.2 ± 9.7 vs. 149.0 ± 9.0; P = 0.0672) decreased, and FSCR increased (50.0 vs. 16.2%; P < 0.01) compared with CG. In conclusion, intrauterine ozone therapy applied at 35 days after calving reduced subclinical endometritis prevalence and improved reproductive performance in postpartum dairy cows managed in a pasture-based system.

Narnaviruses: novel players in fungal-bacterial symbioses.

Rhizopus microsporus is an early-diverging fungal species with importance in ecology, agriculture, food production, and public health. Pathogenic strains of R. microsporus harbor an intracellular bacterial symbiont, Mycetohabitans (formerly named Burkholderia). This vertically transmitted bacterial symbiont is responsible for the production of toxins crucial to the pathogenicity of Rhizopus and remarkably also for fungal reproduction. Here we show that R. microsporus can live not only in symbiosis with bacteria but also with two viral members of the genus Narnavirus. Our experiments revealed that both viruses replicated similarly in the growth conditions we tested. Viral copies were affected by the developmental stage of the fungus, the substrate, and the presence or absence of Mycetohabitans. Absolute quantification of narnaviruses in isolated asexual sporangiospores and sexual zygospores indicates their vertical transmission. By curing R. microsporus of its viral and bacterial symbionts and reinfecting bacteria to reestablish symbiosis, we demonstrate that these viruses affect fungal biology. Narnaviruses decrease asexual reproduction, but together with Mycetohabitans, are required for sexual reproductive success. This fungal-bacterial-viral system represents an outstanding model to investigate three-way microbial symbioses and their evolution.

Calidad del sueño según progresión académica en estudiantes chilenos de Obstetricia / Sleep quality according to academic progression in Chilean Obstetrics students

RESUMEN Fundamento: el sueño es reconocido como un indicador de calidad de vida y, en la vida cotidiana de un estudiante, adquiere gran relevancia por su relación con el funcionamiento cognitivo y las actividades académicas. Objetivo: identificar y evaluar los factores asociados a la calidad de sueño que presentan estudiantes chilenos de la carrera de Obstetricia, según años cursados. Métodos: estudio transversal y analítico realizado en el año lectivo 2018 en una universidad chilena, que incluyó la totalidad de estudiantes de la carrera de Obstetricia, quienes respondieron un cuestionario que evaluó los antecedentes sociodemográficos, el perfil académico, los hábitos previos al dormir y la calidad de sueño, evaluada mediante la encuesta de Pittsburg de calidad de sueño (Pittsburgh Sleep Quality Index, PSQI). Resultados: el comportamiento en torno a los hábitos del sueño difiere significativamente entre los cursos, en el 1° y el 4° año se encuentran quienes duermen menos y los estudiantes de este último curso son clasificados como los peores dormidores. El promedio de los componentes del PSQI varía entre 6, 6 (5° año) y 9,2 (4° año); el componente disfunción diurna mostró los valores más extremos. Conclusiones: existe una débil asociación entre la calidad de sueño y las variables sociodemográficas, perfil académico y hábitos previos al dormir. Solo se asocia fuertemente con algunos componentes de la encuesta de calidad de sueño, como la hora de acostarse y las horas de sueño del estudiante. La progresión de la carrera no supone un alza o disminución de los malos o buenos dormidores.

ABSTRACT Foundation: sleep is recognized as an indicator of quality of life and, in a student´s daily life, it acquires great importance for its relationship with cognitive functioning and academic activities. Objective: to identify and evaluate factors associated with quality of sleep presented by the Chilean students of the Obstetric training program, according to years studied. Methods: cross-sectional and analytical study conducted in the 2018 school year in a Chilean university, which included all the students of Obstetrics, who answered a questionnaire that evaluated sociodemographic background, academic profile, previous sleep habits and sleep quality, assessed by the Pittsburgh Sleep Quality Index (PSQI) survey. Results: the behavior around the sleep habits differs significantly among courses, in the 1st and 4th year there are those who sleep less and the students of this last course are classified as the worst sleepers. The average of the PSQI components varies between 6, 6 (5th year) and 9.2 (4th year); daytime dysfunction component showed the most extreme values. Conclusions: there is a weak association between sleeping quality and sociodemographic variables, academic profile and previous sleep habits. It is only strongly associated with some components of the sleep quality survey, such as bedtime and student sleeping hours. The training program progression does not mean an increase or decrease in bad or good sleepers.

Mucopolisacaridosis tipo VI: Reporte de tres casos y revisión de la literatura / Muchopolysaccharidosis VI: Report of three cases and literature review

El síndrome de Maroteaux-Lamy es una de las mucopolisacaridosis menos frecuente, con una incidencia aproximada de 0.36 a 1.30 por cada 100,000 nacidos vivos. Causado por una mutación en el gen ARSB, que produce la deficiencia enzimática de arilsulfatasa Bocasionando acumulación de dermatán sulfato en las células. Clínicamente, los pacientes presentan afectación multiorgánica progresiva. En este trabajo presentamos tres pacientes de origen boliviano no emparentados con MPS VI. Adicionalmente revisamos 38 casos de pacientes con MPS VI reportados en literatura.

Alteraciones antropomètricas asociadas a sindromes genèticos en pacientes del Instituto de Genètica, La Paz Bolivia (2012-2016) / Anthropometric alterations associated with genetic syndromes in patients of the Institute of Genetics, La Paz Bolivia (2012-2016)

Introducción: El crecimiento es el pilar fundamental del desarrollo integral de un organismo, se sabe que está influenciado y controlado por la interacción de varios factores genéticos y ambientales. Los síndromes genéticos se asocian a alteraciones en los patrones de crecimiento y desarrollo. Objetivo: Determinar la frecuencia de alteraciones antropométricas asociadas a síndromes genéticos en pacientes del Instituto de Genética de La Paz, Bolivia (2012 ­ 2016).Material y métodos: Estudio observacional, descriptivo y de corte transversal. Muestra: pacientes con alteraciones antropometricas y dismorfias faciales y/o corporales. Resultados: De 381 pacientes incluidos en el estudio, 45% tuvieron alteraciones antropométricas y dismorfias faciales y/o corporales (AA/D). De ellos, el 63,5% tuvo variaciones de talla (p95), la mayoría talla baja. El 52,3% de los pacientes con AA tuvieron variaciones de peso, siendo más frecuente el bajo peso. El perímetro cefálico estuvo alterado en el 42% de los pacientes, con similares proporciones para macrocefalia y microcefalia. Se observó que la mayoría de los casos de AA correspondió a síndromes genéticos, seguido por cromosomopatías y otros. También, se observó diferencias de distribución por sexo y AA.Discusión: Se sabe que existe una gran contribución tanto ambiental como genética en la etiología de alteraciones antropométricas (AA). La identificación de éstas puede conducir a la correcta sospecha de un síndrome y su evaluación cuidadosa sigue siendo una parte crucial de la genética médica