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Vaccination has proven to be one of the most effective strategies against the COVID-19 pandemic. Several studies have evaluated and confirmed its effectiveness in different populations, particularly in reducing severe outcomes such as hospitalization and death. Some studies have investigated the effectiveness of vaccination against the infection, identifying the need for booster doses. This study aimed to explore the effectiveness of the vaccination schedule on the probability of infection in a sample of Colombian patients during the fourth wave of the COVID-19 pandemic, which was associated with the emergence and predominance of the Omicron variant. A cross-sectional study was conducted on individuals who underwent RT-PCR testing for COVID-19 detection in a dedicated laboratory in Bogotá, Colombia, between 30 December 2021 and 7 February 2022. A total of 1468 subjects was included in the study, of whom 36.6% (n = 538) had a positive PCR test for COVID-19. The comparison between fully vaccinated individuals with a booster dose and those without the booster dose revealed a 28% reduction in the odds of infection (OR = 0.719 CI 0.531-0.971). Age (OR = 1.009 CI 1.001-1.018) and low economic status (OR = 1.812 CI 1.416-2.319) were associated with an increased risk of infection. These findings suggest the need for a booster vaccination in the general population to improve the prevention rates of SARS-CoV-2 infection and mitigate severe outcomes.
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A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiable Syndromic pattern, and to her parents, we disclosed a de novo heterozygous pathogenic mutation, c.697_699del p.Phe233del (rs786204835)(ACMG classification PS2, PM1, PM2, PP5), harbored in the PURA gene (MIM*600473) (5q31.3), associated with Autosomal Dominant Mental Retardation 31 (MIM # 616158). We used the significant improvement in the accuracy of protein structure prediction recently implemented in AlphaFold that incorporates novel neural network architectures and training procedures based on the evolutionary, physical, and geometric constraints of protein structures. The wild-type (WT) sequence and the mutated sequence, missing the Phe233, were reconstructed. The predicted local Distance Difference Test (lDDT) for the PURAwt and the PURA-Phe233del showed that the occurrence of the Phe233del affects between 220-320 amino acids. The distortion in the PURA structural conformation in the ~5 Å surrounding area after the p.Phe233del produces a conspicuous disruption of the repeat III, where the DNA and RNA helix unwinding capability occurs. PURA Protein-DNA docking corroborated these results in an in silico analysis that showed a loss of the contact of the PURA-Phe233del III repeat domain model with the DNA. Together, (i) the energetic and stereochemical, (ii) the hydropathic indexes and polarity surfaces, and (iii) the hybrid Quantum Mechanics-Molecular Mechanics (QM-MM) analyses of the PURA molecular models demarcate, at the atomic resolution, the specific surrounding region affected by these mutations and pave the way for future cell-based functional analysis. To the best of our knowledge, this is the first report of a de novo mutation underpinning a PURA syndrome in a Latin American patient and highlights the importance of predicting the molecular effects in protein structure using artificial intelligence algorithms and molecular and atomic resolution stereochemical analyses.
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OBJECTIVES: This study aimed to explore associations between the molecular characterization of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) and disease severity in ambulatory and hospitalized patients in two main Colombian epicentres during the first year of the coronavirus disease 2019 pandemic. METHODS: In total, 1000 patients with SARS-CoV-2 infection were included in this study. Clinical data were collected from 997 patients, and 678 whole-genome sequences were obtained by massively parallel sequencing. Bivariate, multi-variate, and classification and regression tree analyses were run between clinical and genomic variables. RESULTS: Age >88 years, and infection with lineages B.1.1, B.1.1.388, B.1.523 or B.1.621 for patients aged 71-88 years were associated with death [odds ratio (OR) 6.048036, 95% confidence interval (CI) 1.346567-32.92521; P=0.01718674]. The need for hospitalization was associated with higher age and comorbidities. The hospitalization rate increased significantly for patients aged 38-51 years infected with lineages A, B, B.1.1.388, B.1.1.434, B.1.153, B.1.36.10, B.1.411, B.1.471, B.1.558 or B.1.621 (OR 8.368427, 95% CI 2.573145-39.10672, P=0.00012). Associations between clades and clinical outcomes diverged from previously reported data. CONCLUSIONS: Infection with lineage B.1.621 increased the hospitalization and mortality rates. These findings, plus the rapidly increasing prevalence in Colombia and other countries, suggest that lineage B.1.621 should be considered as a 'variant of interest'. If associated disease severity is confirmed, possible designation as a 'variant of concern' should be considered.
Assuntos
COVID-19 , SARS-CoV-2 , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19/epidemiologia , Colômbia/epidemiologia , Genômica , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2/genéticaRESUMO
The severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) is the etiopathogenic agent of COVID-19, a condition that has led to a formally recognized pandemic by March 2020 (World Health Organization -WHO). The SARS-CoV-2 genome is constituted of 29,903 base pairs, that code for four structural proteins (N, M, S, and E) and more than 20 non-structural proteins. Mutations in any of these regions, especially in those that encode for the structural proteins, have allowed the identification of diverse lineages around the world, some of them named as Variants of Concern (VOC) and Variants of Interest (VOI), according to the WHO and CDC. In this study, by using Next Generation Sequencing (NGS) technology, we sequenced the SARS-CoV-2 genome of 422 samples from Colombian residents, all of them collected between April 2020 and January 2021. We obtained genetic information from 386 samples, leading us to the identification of 14 new lineages circulating in Colombia, 13 of which were identified for the first time in South America. GH was the predominant GISAID clade in our sample. Most mutations were either missense (53.6%) or synonymous mutations (37.4%), and most genetic changes were located in the ORF1ab gene (63.9%), followed by the S gene (12.9%). In the latter, we identified mutations E484K, L18F, and D614G. Recent evidence suggests that these mutations concede important particularities to the virus, compromising host immunity, the diagnostic test performance, and the effectiveness of some vaccines. Some important lineages containing these mutations are the Alpha, Beta, and Gamma (WHO Label). Further genomic surveillance is important for the understanding of emerging genomic variants and their correlation with disease severity.
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COVID-19/epidemiologia , Genoma Viral , Mutação , SARS-CoV-2/genética , Glicoproteína da Espícula de Coronavírus/genética , Proteínas Virais/genética , COVID-19/transmissão , COVID-19/virologia , Colômbia/epidemiologia , Monitoramento Epidemiológico , Evolução Molecular , Expressão Gênica , Humanos , Filogenia , Poliproteínas/genética , Poliproteínas/metabolismo , SARS-CoV-2/classificação , SARS-CoV-2/patogenicidade , Glicoproteína da Espícula de Coronavírus/metabolismo , Fatores de Tempo , Proteínas Virais/metabolismo , Sequenciamento Completo do GenomaRESUMO
El vólvulo del colon es la causa más común de obstrucción intestinal durante la gestación, y representa una causa importante de morbimortalidad materna y fetal. Su diagnóstico clínico es difícil, debido a que el embarazo dificulta la adecuada identificación de signos y de síntomas. Ello explica que las imágenes diagnósticas sean indispensables como herramienta confirmatoria. La instauración de un rápido tratamiento es esencial para los pronósticos materno y fetal. Se presenta el caso clínico de una mujer de 33 años en el último mes de su gestación, y quien ingresa a un hospital de tercer nivel en la ciudad de Bogotá, Colombia, por un cuadro clínico sugestivo de obstrucción intestinal. La Resonancia Nuclear Magnética (RNM) evidencia signos radiológicos sugestivos de vólvulo, por lo cual se decide realizar laparotomía de urgencia, que confirma vólvulo del sigmoide sin necrosis. Se devolvula manualmente y se fija a la gotera parietocólica, como medida transitoria, para posterior sigmoidectomía, como tratamiento definitivo. Se analiza el caso a la luz de la literatura científica disponible. El objetivo de este trabajo es familiarizar al personal de la salud con este cuadro clínico, para garantizar una rápida instauración del tratamiento, con el fin de evitar las complicaciones que se pueden desencadenar en quienes lo padecen.
Colonic volvulus is the most common cause of bowel obstruction during gestation and is an important cause of maternal and fetal morbidity and mortality. Its clinical diagnosis is challenging because pregnancy hinder an adequate identification of signs and symptoms. This explains why diagnostic imaging is currently considered as the gold-standard for diagnosis. Placement on effective therapy is essential to ensure adequate maternal and fetal prognosis. We present the case of a 33-year-old woman in the last month of pregnancy, who was admitted into a third-level hospital in Bogotá, Colombia. She had a clinical scenario consistent with intestinal obstruction. Magnetic Nuclear Resonance (MRI) shows radiological findings suggestive of volvulus, so emergency laparotomy was performed. Non-necrotic sigmoid volvulus was confirmed. It was manually corrected and fixed to the parietal-like leak as a transient measure for subsequent sigmoidectomy as a definitive treatment. We present a review of the literature available in electronic databases and a critical analysis of the case management. The objective of this study is to familiarize health personnel with this clinical scenario, in order to ensure efficient treatment strategies and avoid common and potentially lethal complications
Vólvulo do cólon é a mais comum causa de obstruçãointestinal durante a gestaçãoe representa das principaiscausas de mortalidade e morbidade materna e fetal.diagnóstico clínico é difícil, porque a gravidez dificulta aidentificação adequada dos sinais e síntomas ou vólvulo de colon é para causar comum de mais de obstrução intestinal durante para gestação e representa uma que causa importante de morbimortalidad materno e fetal. Diagnosticar deles / delas clínico é difícil porque para gravidez impeça a apropriada de sinais de identificação e síntomas a ressonância magnética (RNM) nuclear comprova sinais sugestivos radiológicos de vólvulo para o que decide levar a cabo laparotomía de urgência que confirma vólvulo do sigmoide sem necrose. você devolvula manualmente e ele/ela nota ao parietocólica de vazamento goste de medida transitória para sigmoidectomía posterior goste de tratamento definitivo. Discutte o caso a luz da literatura científica disponivel objetivo deste trabalho é tornarse familiarizado com estepessoal saúde queadro clínico para asegurar um rápido establecimento do tratamento, a fin de evitar acomplições que podem ser acionadas em pessoas quesofrem com isso
Assuntos
Humanos , Feminino , Gravidez , Colo Sigmoide , Gravidez , Volvo Intestinal , Pessoal de Saúde , Colo , Administração de Caso , Obstrução Intestinal , LaparotomiaRESUMO
Introducción: La leptospirosis es una enfermedad febril aguda causada por una bacteria del género Leptospira. Es una zoonosis que afecta gran variedad de animales salvajes y domésticos, principalmente roedores. El hombre se contamina en forma accidental por el contacto con orina o tejidos de animales infectados y presenta cuadros clínicos variables que van desde infecciones inaparentes y meningitis aséptica, hasta formas severas como el síndrome de Weil. Desarrollo: Presentamos el caso clínico de un paciente joven de 22 años con picos febriles cuantificados de 40 ºC, escalofríos, diaforesis profusa, cefalea, mialgias, artralgias en rodillas y maléolos, dolor retroocular y retroesternal, y pérdida del apetito, sintomatología que se presenta 20 días después de haber practicado deportes extremos acuáticos. Conclusiones: El diagnóstico tardío del paciente y el reingreso al hospital, son el resultado de varios factores; por un lado, la homología con otras patologías infecciosas que presentan cuadros febriles agudos, con sintomatología muy similar como, dengue, malaria, influenza, fiebre amarilla, brucelosis y, por otro lado, el poco contacto con esta enfermedad por parte del personal médico. El tratamiento antibiótico adecuado y el sostén apropiado reducen la morbimortalidad. Este artículo presenta un caso de leptospirosis atendido en la ciudad de Bogotá, analizado a la luz de la literatura.
Introduction: Leptospirosis is an acute febrile disease caused by the leptospira. It is considered a zoonosis that affects a variety of animals, both wild and domestic (mainly rodents). Humans become infected accidentally by contact with urine or tissues from infected animals. This pathology has variable clinical manifestations, ranging from inapparent infections and aseptic meningitis, to severe forms such as the Weil syndrome. Development: We present the case of a young patient of 22 years old with fever quantified peaks of 40° C, chills, profuse sweating, headache, muscle and joint pain in knees and malleoli , retroorbital and retrosternal pain; and appetite loss. The symptoms occurred after 20 days of having practiced extreme water sports. Conclusion: The late diagnosis of the patient and hospital readmission are the result of several factors; First, the homology with other infectious diseases that present acute febrile illness with similar symptoms as dengue, malaria, influenza, yellow fever, brucellosis; and secondly the lack of expertise and poor contact with patients who present this disease by the medical staff. Correct antibiotic treatment and proper support reduce morbidity and mortality. The objective of this article is to describe a case of human leptospirosis and make a review of the literature in order to analyze the epidemiological characteristics and relevant clinical manifestations.
Introdução: A leptospirose é uma doença febril aguda causada por uma bactéria do gênero Leptospira. É uma zoonose que afeta grande variedade de animais selvagens e domésticos, principalmente roedores. O homem contamina-se de forma acidental pelo contato com urina ou tecidos de animais infetados e apresenta quadros clínicos variáveis que vão desde infecções inaparentes e meningite asséptica, até formas severas como a síndrome de Weil. Desenvolvimento: Apresentamos o caso clínico de um paciente jovem de 22 anos com picos febris quantificados de 40 °C, arrepios, diaforese profusa, cefaleia, mialgias, artralgias em joelhos e maléolos, dor retro-ocular e retroesternal e perda do apetite, sintomatologia que se apresenta 20 dias após de ter praticado esportes de aventura aquáticos. Conclusões: O diagnóstico tardio do paciente e o reingresso ao hospital, são o resultado de vários fatores; por um lado, a homologia com outras patologias infecciosas que apresentam quadros febris agudos, com sintomatologia muito similar como dengue, malária, influenza, febre amarela, brucelose e, por outro lado, o pouco contato com esta doença por parte do pessoal médico. O tratamento antibiótico adequado e o sustento apropriado reduzem a morbimortalidade. Este artigo apresenta um caso de leptospirose atendido na cidade de Bogotá, analisado à luz da literatura.