Sexually transmitted infections with Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, and Trichomonas vaginalis in pregnant women as detected by molecular testing.

Context: During pregnancy, sexually transmitted infections can be transmitted vertically to the fetus, leading to an increase in morbidity and mortality for both mother and child. Aims: This study aimed to determine the profile of cervical and vaginal infections in pregnant women receiving prenatal care in a single institute. Settings and Design: The study was conducted in a tertiary hospital. Molecular testing was used to detect Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, and Trichomonas vaginalis. Materials and Methods: Samples of vaginal secretions were collected from pregnant women using the Aptima® Multitest Swab Specimen Collection kit to test for the pathogens. The inclusion criteria consisted of pregnant women of 15-45 years of age receiving prenatal care at the institute, irrespective of gestational age, who agreed to provide vaginal swab. The exclusion criterion was the use of antibiotics in the preceding 3 months. Statistical Analysis: Frequencies and percentages were calculated for the pathogens detected in the samples evaluated. Results: Overall, 200 samples were tested. Of the pathogens detected, there was a predominance of T. vaginalis (15.5% of the samples) and C. trachomatis (14.5%), followed by M. genitalium (10.0%) and N. gonorrhoeae (0.5%). Conclusion: Identifying the microorganisms present in the microbiota of pregnant women is of the utmost importance in assuring the appropriate treatment for each pathogen, thus avoiding complications both for the woman and for her fetus. These results should serve to stimulate the debate on implementing these tests as routine during prenatal care.

NAToRA, a relatedness-pruning method to minimize the loss of dataset size in genetic and omics analyses.

Genetic and omics analyses frequently require independent observations, which is not guaranteed in real datasets. When relatedness cannot be accounted for, solutions involve removing related individuals (or observations) and, consequently, a reduction of available data. We developed a network-based relatedness-pruning method that minimizes dataset reduction while removing unwanted relationships in a dataset. It uses node degree centrality metric to identify highly connected nodes (or individuals) and implements heuristics that approximate the minimal reduction of a dataset to allow its application to complex datasets. When compared with two other popular population genetics methodologies (PLINK and KING), NAToRA shows the best combination of removing all relatives while keeping the largest possible number of individuals in all datasets tested and also, with similar effects on the allele frequency spectrum and Principal Component Analysis than PLINK and KING. NAToRA is freely available, both as a standalone tool that can be easily incorporated as part of a pipeline, and as a graphical web tool that allows visualization of the relatedness networks. NAToRA also accepts a variety of relationship metrics as input, which facilitates its use. We also release a genealogies simulator software used for different tests performed in this study.

Population genetics of PDE4B (phosphodiesterase-4B) in neglected Native Americans: Implications for cancer pharmacogenetics.

PDE4B (phosphodiesterase-4B) has an important role in cancer and in pharmacology of some disorders, such as inflammatory diseases. Remarkably in Native Americans, PDE4B variants are associated with acute lymphoblastic leukemia (ALL) relapse, as this gene modulates sensitivity of glucocorticoids used in ALL chemotherapy. PDE4B allele rs6683977.G, associated with genomic regions of Native American origin in US-Hispanics (admixed among Native Americans, Europeans, and Africans), increases ALL relapse risk, contributing to an association between Native American ancestry and ALL relapse that disappeared with an extra-phase of chemotherapy. This result insinuates that indigenous populations along the Americas may have high frequencies of rs6683977.G, but this has never been corroborated. We studied ancestry and PDE4B diversity in 951 healthy individuals from nine Latin American populations. In non-admixed Native American populations rs6683977.G has frequencies greater than 90%, is in linkage disequilibrium with other ALL relapse associated and regulatory variants in PDE4B-intron-7, conforming haplotypes showing their highest worldwide frequencies in Native Americans (>0.82). Our findings inform the discussion on the pertinence of an extra-phase of chemotherapy in Native American populations, and exemplifies how knowledge generated in US-Hispanics is relevant for their even more neglected and vulnerable Native American ancestors along the American continent.

Seroprevalence, Prevalence, and Genomic Surveillance: Monitoring the Initial Phases of the SARS-CoV-2 Pandemic in Betim, Brazil.

The COVID-19 pandemic has created an unprecedented need for epidemiological monitoring using diverse strategies. We conducted a project combining prevalence, seroprevalence, and genomic surveillance approaches to describe the initial pandemic stages in Betim City, Brazil. We collected 3239 subjects in a population-based age-, sex- and neighborhood-stratified, household, prospective; cross-sectional study divided into three surveys 21 days apart sampling the same geographical area. In the first survey, overall prevalence (participants positive in serological or molecular tests) reached 0.46% (90% CI 0.12-0.80%), followed by 2.69% (90% CI 1.88-3.49%) in the second survey and 6.67% (90% CI 5.42-7.92%) in the third. The underreporting reached 11, 19.6, and 20.4 times in each survey. We observed increased odds to test positive in females compared to males (OR 1.88 95% CI 1.25-2.82), while the single best predictor for positivity was ageusia/anosmia (OR 8.12, 95% CI 4.72-13.98). Thirty-five SARS-CoV-2 genomes were sequenced, of which 18 were classified as lineage B.1.1.28, while 17 were B.1.1.33. Multiple independent viral introductions were observed. Integration of multiple epidemiological strategies was able to adequately describe COVID-19 dispersion in the city. Presented results have helped local government authorities to guide pandemic management.

Systematic review of host genetic association with Covid-19 prognosis and susceptibility: What have we learned in 2020?

Biomarker identification may provide strategic opportunities to understand disease pathophysiology, predict outcomes, improve human health, and reduce healthcare costs. The highly heterogeneous Covid-19 clinical manifestation suggests a complex interaction of several different human, viral and environmental factors. Here, we systematically reviewed genetic association studies evaluating Covid-19 severity or susceptibility to SARS-CoV-2 infection following PRISMA recommendations. Our research comprised papers published until December 31st , 2020, in PubMed and BioRXiv databases focusing on genetic association studies with Covid-19 prognosis or susceptibility. We found 20 eligible genetic association studies, of which 11 assessed Covid-19 outcome and 14 evaluated infection susceptibility (five analyzed both effects). Q-genie assessment indicated moderate quality. Five large-scale association studies (GWAS, whole-genome, or exome sequencing) were reported with no consistent replication to date. Promising hits were found on the 3p21.31 region and ABO locus. Candidate gene studies examined ACE1, ACE2, TMPRSS2, IFITM3, APOE, Furin, IFNL3, IFNL4, HLA, TNF-ɑ genes, and ABO system. The most evaluated single locus was the ABO, and the most sampled region was the HLA with three and five candidate gene studies, respectively. Meta-analysis could not be performed. Available data showed the need for further reports to replicate claimed associations.

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.

Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities. We report a novel homozygous ADGRG1 variant with atypical features. The patient presented at 8 months of age with motor delay, esotropia, hypotonia with hyporeflexia and subsequently developed refractory epilepsy. At the last assessment, aged 12 years, head control, sitting and language were not acquired. Magnetic resonance imaging revealed diffuse polymicrogyria with relative sparing of the anterior temporal lobes, without an anterior-posterior gradient, diffuse hypomyelination and pontine and cerebellar hypoplasia. A panel targeting brain morphogenesis defects yielded an unreported homozygous ADGRG1 nonsense variant (dbSNP rs746634404), present in the heterozygous state in both parents. We report a novel ADGRG1 variant associated with diffuse polymicrogyria without an identifiable anterior-posterior gradient, diffuse hypomyelination and a severe motor and cognitive phenotype. Our case highlights the phenotypic diversity of ADGRG1 pathogenic variants and the clinico-anatomical overlap between recognized polymicrogyria syndromes.

Health communication by virtual environments: an experience report. / Comunicação em saúde por meio do ambiente virtual: relato de experiência.

OBJECTIVE: to report an experience of health communication with a strategy based on hosting health videos in a virtual environment. METHOD: a video sharing site (YouTube), accessible websites, and tools to facilitate the execution of tasks (applications) were used to report a health education experience based on the hosting of videos addressing the subjects of cardiopulmonary resuscitation, airway obstruction by foreign bodies, and hemorrhages. RESULTS: in 17 months, there were 31,727 views for the resuscitation and the obstruction videos, which were accessed by people from 69 countries, especially Brazil and the United States; the videos about hemorrhages had 5,400 views, by viewers from the same countries. FINAL CONSIDERATIONS: the use of communication by hosting health videos in a virtual environment impacts on popular education significantly.

Comunicação em saúde por meio do ambiente virtual: relato de experiência / Comunicación en salud través de ambiente virtual: relato de experiencia / Health communication by virtual environments: an experience report

Resumo OBJETIVO relatar a experiência da estratégia de comunicação em saúde por meio de hospedagem de vídeos de saúde em um ambiente virtual. MÉTODO relato de experiência com educação em saúde por hospedagem de vídeos nos temas reanimação cardiopulmonar, obstrução da via aérea por corpos estranhos e hemorragias, utilizando páginas da internet (site) de compartilhamento de vídeos (YouTube), páginas acessíveis na internet (websites) e ferramentas para melhorarem tarefas (aplicativos). RESULTADOS em dezessete meses, houve 31.727 visualizações para os temas de reanimação e obstrução, onde sessenta e nove países acessaram os vídeos, com destaque para Brasil e Estados Unidos; os vídeos de hemorragias tiveram 5.400 visualizações, pelos mesmos países. CONSIDERAÇÕES FINAIS a utilização da comunicação por meio de hospedagem de vídeos de saúde em um ambiente virtual é de extrema importância para educação popular.

Resumen OBJETIVO relatar la experiencia de la estrategia de comunicación en salud través del hospedaje de videos de salud en un ambiente virtual. MÉTODO relato de experiência com educación em salud por hospedaje de vídeos en temas de reanimación cardiopulmonar, obstrucción de la vía aérea por cuerpo extraño y sangría, usando páginas de Internet (sites) de compartir videos (YouTube), páginas acessibles en Internet (websites) y herramientas para mejorar las tareas (aplicaciones). RESULTADOS en diecisiete meses, hubo 31.727 visualizaciones para los temas de reanimación y obstrucción, donde sesenta y nueve países accedieron a los videos, con destaque para Brasil y Estados Unidos; los videos de hemorragias tuvieron 5.400 visualizaciones, por los mismos países. CONSIDERACIONES FINALES la utilización de la comunicación por medio de hospedaje de videos de salud en un ambiente virtual es de extrema importancia para la educación popular.

Abstract OBJECTIVE to report an experience of health communication with a strategy based on hosting health videos in a virtual environment. METHOD a video sharing site (YouTube), accessible websites, and tools to facilitate the execution of tasks (applications) were used to report a health education experience based on the hosting of videos addressing the subjects of cardiopulmonary resuscitation, airway obstruction by foreign bodies, and hemorrhages. RESULTS in 17 months, there were 31,727 views for the resuscitation and the obstruction videos, which were accessed by people from 69 countries, especially Brazil and the United States; the videos about hemorrhages had 5,400 views, by viewers from the same countries. FINAL CONSIDERATIONS the use of communication by hosting health videos in a virtual environment impacts on popular education significantly.

The gap between knowledge on HIV/AIDS and sexual behavior: a study of teenagers in Vespasiano, Minas Gerais State, Brazil.

The aim of this study was to investigate gaps between knowledge on HIV/AIDS and sexual behavior among teenagers. The study used a cross-sectional design with a representative random sample of 1,158 teenagers (14 to 19 years of age) enrolled in nine public secondary schools and who answered validated questionnaires. Data analysis included descriptive statistics and tests of hypotheses (chi-square, Mann-Whitney and Kruskal-Wallis, Kendall, and Fisher's exact test). The vast majority of the teenagers (98.7%) expressed doubt on at least one question. Condom use during first sexual intercourse was significantly associated with condom use in sexual relations in the previous six months. There was no statistical association between knowledge on HIV/AIDS and frequency of condom use or number of sexual partners. Health actions are needed that link schools to health services, in addition to not only elaborating appropriate information but also valorizing teenagers' individuality in the development of proposals.

The gap between knowledge on HIV/AIDS and sexual behavior: a study of teenagers in Vespasiano, Minas Gerais State, Brazil / A lacuna entre o conhecimento sobre HIV/AIDS e o comportamento sexual: uma investigação com adolescentes de Vespasiano, Minas Gerais, Brasil / La laguna entre el conocimiento sobre VIH/SIDA y el comportamiento sexual: una investigación con adolescentes de Vespasiano, Minas Gerais, Brasil

The aim of this study was to investigate gaps between knowledge on HIV/AIDS and sexual behavior among teenagers. The study used a cross-sectional design with a representative random sample of 1,158 teenagers (14 to 19 years of age) enrolled in nine public secondary schools and who answered validated questionnaires. Data analysis included descriptive statistics and tests of hypotheses (chi-square, Mann-Whitney and Kruskal-Wallis, Kendall, and Fisher's exact test). The vast majority of the teenagers (98.7%) expressed doubt on at least one question. Condom use during first sexual intercourse was significantly associated with condom use in sexual relations in the previous six months. There was no statistical association between knowledge on HIV/AIDS and frequency of condom use or number of sexual partners. Health actions are needed that link schools to health services, in addition to not only elaborating appropriate information but also valorizing teenagers' individuality in the development of proposals.

O objetivo foi investigar as lacunas entre o conhecimento sobre o HIV/AIDS e o comportamento sexual em adolescentes do ensino médio. Delineamento transversal com amostra representativa e aleatória de 1.158 adolescentes entre 14 a 19 anos, matriculados em nove escolas públicas que responderam a questionários validados. A análise dos dados envolveu estatística descritiva e testes de hipóteses (qui-quadrado, Mann-Whitney e Kruskal-Wallis, Kendal e teste exato de Fisher). A maioria dos adolescentes (98,7%) apresentou dúvida em alguma questão proposta. O uso do preservativo na primeira relação sexual influenciou o uso nas relações dos últimos seis meses. Não houve associação estatística entre o conhecimento sobre HIV/AIDS com a frequência do uso de preservativo e a multiplicidade de parceiros sexuais. É necessário a implementação de ações em saúde que articulem a escola aos serviços de saúde e que além de trabalhar a informação, valorizem a individualidade dos adolescentes na construção das propostas.

El objetivo fue investigar las lagunas entre el conocimiento sobre el VIH/SIDA y el comportamiento sexual en adolescentes de enseñanza media. Delineación transversal con muestra representativa y aleatoria de 1.158 adolescentes entre 14 a 19 años, matriculados en nueve escuelas públicas que respondieron a cuestionarios validados. El análisis de los datos implicó estadística descriptiva y tests de hipótesis (chi-cuadrado, Mann-Whitney y Kruskal-Wallis, Kendal y test exacto de Fisher). La mayoría de los adolescentes (98,7%) presentó dudas en alguna cuestión propuesta. El uso del preservativo en la primera relación sexual influenció el uso en las relaciones de los últimos seis meses. No hubo asociación estadística entre el conocimiento sobre VIH/SIDA con la frecuencia del uso de preservativo y la multiplicidad de compañeros sexuales. Es necesaria la implementación de acciones en salud que articulen la escuela a los servicios de salud y que además de trabajar con la información, valoren la individualidad de los adolescentes en la construcción de las propuestas.

A sham-controlled trial of a 5-day course of repetitive transcranial magnetic stimulation of the unaffected hemisphere in stroke patients.

BACKGROUND AND PURPOSE: It has been recently shown that a single session of repetitive transcranial magnetic stimulation (rTMS) of the unaffected hemisphere can improve motor function in stroke patients; however, this improvement is short-lasting. We therefore conducted a randomized, sham-controlled, phase II trial to evaluate whether five sessions of low-frequency rTMS can increase the magnitude and duration of these effects and whether this approach is safe. METHODS: Fifteen patients with chronic stroke were randomized to receive active or sham rTMS of the unaffected hemisphere. A blinded rater assessed motor function and corticospinal excitability at baseline, during and after 2 weeks of treatment. Safety was assessed using a neuropsychologic battery and electroencephalogram. RESULTS: Active rTMS resulted in a significant improvement of the motor function performance in the affected hand that lasted for 2 weeks. These effects were not observed in the sham rTMS group (affected and unaffected hand) and in the unaffected hand in the active rTMS group. Corticospinal excitability decreased in the stimulated, unaffected hemisphere and increased in the affected hemisphere. There was a significant correlation between motor function improvement and corticospinal excitability change in the affected hemisphere. Cognitive performance and electroencephalogram were not changed significantly throughout the trial in both groups of treatment. CONCLUSIONS: These results support and extend the findings of previous studies on rTMS in stroke patients because five consecutive sessions of rTMS increased the magnitude and duration of the motor effects. Furthermore, this increased dose of rTMS is not associated with cognitive adverse effects and/or epileptogenic activity.

Indicadores Laser y daño retiniano. Estudio histopatologico en conejos / Laser Indicator and retinian injury. Hystopathological study in rabbits

Objetivo: evaluar los cambios histopatológicos de la retina en conejos Nueva Zelanda, luego de exponerlos a indicadores láser por un tiempo determinado, para así evaluar el daño que se puede presentar con su utilización. Materiales y métodos: consta de dos partes: la primera es el estudio histopatológico de la retina normal de los conejos Nueva Zelanda y la segunda el análisis histopatológico de la retina de conejos de similares características genéticas, luego de exponerlos al rayo de indicadores tipo 2 durante 1 minuto. Resultados: la hipótesis del posible efecto deletéreo de los indicadores láser, no fue demostrada en este trabajo; ya que los resultados histopatológicos de los dos grupos a estudio no mostraron diferencias cuantificables significativas. Conclusión: aunque con este estudio no se logró documentar ninguna evidencia histológica de daño retiniano en los ojos expuestos a la radiación láser, los peligros y seguridades de los láser deben ser recalcados al público en general hasta que no sea demostrada su seguridad en estudios a gran escala

Descripcion de una extensa familia colombiana con nefropatia gotosa familiar juvenil / Familial juvenile gouty nephrophathy in Colombia

La nefropatía gotosa familiar juvenil (NGFJ) es una rara enfermedad con herencia autosómica dominante de etiología desconocida que se presenta con un cuadro de hiperuricemia, artritis y falla renal progresiva. Nosotros describimos una extensa familia colombiana que contiene 29 individuos afectados con NGF y un informe de caso de uno de estos miembros. Se trata de un paciente de 42 años de edad con falla renal crónica sin artritis gotosa. La biopsia renal reveló esclerosis glomerular segmentaria y focal además de nefritis túbulo intersticial focal. La familia aquí descrita tiene una elevada prevalencia de NGFJ que puede ser explicada por la alta consanguinidad en cada generación. Las investigaciones futuras se dirigirán hacia la evaluación del riesgo en la población y la identificación del gen responsable de la enfermedad.

Estandarizacion de la tecnica de biopsia conjutival para el estudio de los pacientes con sindrome de Sjogren en el Hospital Universitario de SAn Ignacio / Standarization of a conjuntival biopsy for the study of patient's with Sjogren syndrome

El síndrome de Sjogren (SS) es un desorden crónico de tipo inflamatorio autoinmune que compromete las glándulas salivares y oculares. Debido a que sólo se realizan prueban indirectas que midan la funcionalidad del ojo se propuso estandarizar la técnica de biopsia conjuntival en el estudio de los pacientes con síndrome de Sjogren (SS) por medio de un estudio descriptivo y de concordancia en el Hospital Universitario de San Ignacio; se concluyeron 17 voluntarios sanos, 13 pacientes con diagnóstico de ojo seco y 13 pacientes con diagnóstico de SS por los criterios preliminares para clasificación de SS de 1993. Se realizó valoración oftalmológica con tiempo de ruptura de película lagrimal, Schirmer y biopsia conjuntival. Las muestras fueron leídas por 2 patólogos en forma ciega por duplicado. El principal hallazgo histopatológico útil en la diferenciación de la población sana y enferma es la hipoplasia de las células caliciformes (p = 0.054). La arquitectura acinar y ductal e infiltrado linfoplasmocitario no fueron estadísticamente significativas (p = 0.19). En cuanto al estudio de concordancia, para la variación intraobservador para el patólogo A el kappa obtenido mayor de 0.726 y para el patólogo B, mayor de 0.799 indica que la concordancia es buena. La variación intraobservador tiene un kappa aceptable, pero no es el ideal. Por lo que consideramos que la biopsia conjuntival se podría utilizar en el estudio de los pacientes con SS, pero es necesario ampliar el tamaño de la muestra para establecer con mayor exactitud las diferencias entre sanos y enfermos

Nefritis por Shunt: reporte de un caso y revisión de la literatura / Shunt nephritis: report of one case and review of the literature

Se presenta el caso de un paciente con glomerulonefritis mesangiocapilar tipo uno, asociada con la infección de un shunt ventrículo atrial colocado once años antes, para tratamiento de hidrocefalia obstructiva secundaria a malformaciones de Arnoldchiari. Aunque la infección del shunt es frecuente, la asociación con glomerulonefritis es rara. Los organismos responsables de la infección del shunt usualmente son bacterias no patógenas y los antibióticos por lo general no son efectivos para erradicarla, siendo necesaria la extracción del shunt para la recuperación del paciente, aunque existen casos en los que a pesar de retirarlo la glomerulonefritis progresa.

Violencia contra la mujer / Violence against the woman

El documento aporta discusiones de taller donde participaron representantes europeas y latinoamericanas, incluyendo Panamá. Analiza distintos aspectos del problema de la violencia contra la mujer en los países (doméstica, psíquica, sexual, laboral y económica, ideológica, cultural, política y estatal, en los servicios de salud, y se hace un análisis estructural de la violencia. Recoge propuestas y alternativas al problema