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BACKGROUND: In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. RESULTS: We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. CONCLUSION: This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.
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Proteína BRCA2 , Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Femenino , Mutación de Línea Germinal/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias de la Mama/epidemiología , Colombia/epidemiología , Persona de Mediana Edad , Adulto , Proteína BRCA2/genética , Proteína BRCA1/genética , Secuenciación del Exoma , Anciano , Pruebas Genéticas/métodos , Proteínas de la Ataxia Telangiectasia Mutada/genéticaRESUMEN
INTRODUCTION: Common mental health conditions (CMHCs), including depression, anxiety and post-traumatic stress disorder (PTSD), are highly prevalent in low and middle-income countries (LMICs). Preventive strategies combining psychological interventions with interventions addressing the social determinants of mental health may represent a key strategy for effectively preventing CMHCs. However, no systematic reviews have evaluated the effectiveness of these combined intervention strategies for preventing CMHCs. METHODS AND ANALYSIS: This systematic review will include randomised controlled trials (RCTs) focused on the effectiveness of interventions that combine preventive psychological interventions with interventions that address the social determinants of mental health in LMICs. Primary outcome is the frequency of depression, anxiety or PTSD at postintervention as determined by a formal diagnostic tool or any other standardised criteria. We will search Epistemonikos, Cochrane Controlled Trials Register (CENTRAL), MEDLINE, Embase, PsycINFO, CINAHL, Global Index Medicus, ClinicalTrials.gov (Ctgov), International Clinical Trials Registry Platform (ICTRP). Two reviewers will independently extract the data and evaluate the risk of bias of included studies using the Cochrane risk of bias tool 2. Random-effects meta-analyses will be performed, and certainty of evidence will be rated using the Grading of Recommendations Assessment, Development and Evaluation approach. ETHICS AND DISSEMINATION: This study uses data from published studies; therefore, ethical review is not required. Findings will be presented in a published manuscript. TRIAL REGISTRATION NUMBER: CRD42023451072.
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Países en Desarrollo , Determinantes Sociales de la Salud , Revisiones Sistemáticas como Asunto , Humanos , Proyectos de Investigación , Intervención Psicosocial/métodos , Trastornos por Estrés Postraumático/prevención & control , Metaanálisis como Asunto , Salud Mental , Depresión/prevención & control , Trastornos Mentales/prevención & control , Trastornos Mentales/terapia , Ansiedad/prevención & control , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
AIMS: Depression and anxiety are the leading contributors to the global burden of disease among young people, accounting for over a third (34.8%) of years lived with disability. Yet there is limited evidence for interventions that prevent adolescent depression and anxiety in low- and middle-income countries (LMICs), where 90% of adolescents live. This article introduces the 'Improving Adolescent mentaL health by reducing the Impact of poVErty (ALIVE)' study, its conceptual framework, objectives, methods and expected outcomes. The aim of the ALIVE study is to develop and pilot-test an intervention that combines poverty reduction with strengthening self-regulation to prevent depression and anxiety among adolescents living in urban poverty in Colombia, Nepal and South Africa. METHODS: This aim will be achieved by addressing four objectives: (1) develop a conceptual framework that identifies the causal mechanisms linking poverty, self-regulation and depression and anxiety; (2) develop a multi-component selective prevention intervention targeting self-regulation and poverty among adolescents at high risk of developing depression or anxiety; (3) adapt and validate instruments to measure incidence of depression and anxiety, mediators and implementation parameters of the prevention intervention; and (4) undertake a four-arm pilot cluster randomised controlled trial to assess the feasibility, acceptability and cost of the selective prevention intervention in the three study sites. RESULTS: The contributions of this study include the active engagement and participation of adolescents in the research process; a focus on the causal mechanisms of the intervention; building an evidence base for prevention interventions in LMICs; and the use of an interdisciplinary approach. CONCLUSIONS: By developing and evaluating an intervention that addresses multidimensional poverty and self-regulation, ALIVE can make contributions to evidence on the integration of mental health into broader development policy and practice.
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Depresión , Autocontrol , Adolescente , Humanos , Ansiedad/prevención & control , Ansiedad/psicología , Colombia/epidemiología , Depresión/psicología , Investigación Interdisciplinaria , Nepal , Pobreza , Sudáfrica/epidemiologíaRESUMEN
We documented two stages of bone involvement due to syphilis in two adult patients infected with human immunodeficiency virus. Bony lesions of secondary versus tertiary syphilis cannot be differentiated on clinical or radiologic grounds alone. Given the rarity of this clinical presentation, there is no consensus on treatment duration and related outcomes.
Se describen dos etapas de compromiso óseo por sífilis en dos pacientes adultos infectados por el virus de la inmunodeficiencia humana. Las lesiones óseas de la sífilis secundaria y de la sífilis terciaria no se pueden diferenciar únicamente por características clínicas o radiológicas. Dada la rareza de esta presentación clínica, no hay consenso sobre la duración del tratamiento y los resultados relacionados.
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Enfermedades Óseas , Sífilis , Adulto , Humanos , Sífilis/complicaciones , Sífilis/diagnóstico , ConsensoRESUMEN
La Pandemia COVID 19 es una nueva enfermedad del siglo XXI que afecta a todas las personas y en especial a quienes pertenecen al grupo vulnerable en la salud entre ellos quienes son la primera línea de exposición "los trabajadores sanitarios", los mismos que no estaban preparados emocionalmente para enfrentar a la pandemia mundial. Objetivo: Validar el instrumento de investigación para identificar las diferentes afectaciones emocionales causadas por la pandemia COVID-19 en los trabajadores sanitarios, para establecer la importancia de las emociones y explicar la sintomatología de las afectaciones emocionales durante la pandemia. Materiales y métodos: Se realiza una investigación de tipo descriptiva, de corte transversal. Se realizó una prueba piloto para establecer la validez, pertinencia y coherencia para determinar el grado de confiabilidad del instrumento diseñado; que fue validado por juicio de expertos. Se encuesto a 16 trabajadores sanitarios, seleccionados de forma aleatoriamente. Resultados: El instrumento obtuvo una puntuación de 98,08 de confiabilidad. Conclusión: El instrumento ha sido aprobado como muy confiable tanto en la validez, pertinencia y coherencia(AU)
The COVID 19 Pandemic is a new disease of the 21st century that affects all people and especially those who belong to the vulnerable group in health, including those who are the first line of exposure "health workers", the same ones who do not they were emotionally prepared to face the global pandemic. Objective: To validate the research instrument to identify the different emotional affectations caused by the COVID-19 pandemic in health workers, to establish the importance of emotions and explain the symptomatology of emotional affectations during the pandemic. Materials and methods: A descriptive, cross-sectional investigation is carried out. A pilot test was carried out to establish the validity, relevance and coherence to determine the degree of reliability of the designed instrument; which was validated by expert judgment. 16 randomly selected health workers were surveyed. Results: The instrument obtained a reliability score of 98.08. Conclusion: The instrument has been approved as very reliable in terms of validity, relevance and coherence(AU)
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Distrés Psicológico , COVID-19/psicología , Salud Laboral , Personal de Salud , Síntomas AfectivosRESUMEN
Our group works on the detection and characterization of cassava viruses, supporting projects that involve large scale pathogen surveillance activities and resistance screening assays in multiple and remote locations. In order to comply with these applications, nucleic acid isolation protocols need to be cost effective, adjusted for samples that will stand long distance transport and harsh storage conditions, while maximizing the yield and quality of the nucleic acid extracts obtained. The method we describe here has been widely used and validated using different downstream tests (including, but not limited to, Rolling Circle Amplification and Illumina and Nanopore sequencing), but is currently unpublished. The protocol begins with milligram amounts of dry leaf samples stored in silica gel, does not require liquid Nitrogen nor phenol extraction and produces an average of 2.11 µg of nucleic acids per mg of dry tissue.â¢DNA purity estimations reveal OD260/280 ratios above 2.0 and OD260/230 ratios above 1.7, even for samples stored in silica gel for several months.â¢The high quality of the extracts is suitable for detection of DNA and RNA viruses, with high efficiency.â¢We suggest this method could be used as part of a gold standard kit for virus detection in cassava.
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BACKGROUND Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test. CASE REPORT The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis. CONCLUSIONS This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.
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Trastornos de la Motilidad Ciliar/complicaciones , Trastornos de la Motilidad Ciliar/terapia , Atelectasia Pulmonar/etiología , Atelectasia Pulmonar/terapia , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Administración por Inhalación , Presión de las Vías Aéreas Positiva Contínua , Diagnóstico Diferencial , Humanos , Recién Nacido , Masculino , Situs InversusRESUMEN
Five coordination polymers and one hexanuclear cluster have been obtained, and their crystal structures were determined upon reaction of Cu(I) or Ag(I) precursors with pyrazine (Pyz) or piperazine (Ppz). Five complexes are mixed-imine-ligand with anionic-fluorinated pyrazolate [3,5-(CF3)2Pz]- ([PzF]-) besides Pyz or Ppz, whereas the sixth had the neutral diimine as a single chromophore. Complexes 1-3 are isomers of the same Cu/PzF/Pyz composition with the same or different unit cell stoichiometry, namely, {Cu6[3,5-(CF3)2Pz]6(Pyz)3(CH2Cl2)}∞ (1·CH2Cl2), {Cu2[3,5-(CF3)2Pz]}2(Pyz)2·toluene}∞ (2·toluene), and {Cu3[3,5-(CF3)2Pz]3(Pyz)1.5·1.5benzene}∞ (3·1.5benzene), respectively. Altering only the metal attains {Ag6[3,5-(CF3)2Pz]6(Pyz)2·2benzene} (4·2benzene), while also changing the neutral diimine attains {Ag2[3,5-(CF3)2Pz]2(Ppz)}∞ (5). Using Pyz without an anionic imine yields {[Cu(Pyz)(MeCN)2][BF4]}∞ (6). The crystal structure of 1 shows two trimers linked together with two pyrazine ligands. Crystals of 2 represent a metal-organic framework (MOF-TW1) with significant surface area (1278 m2/g) and porosity (23.7% void volume) without considering toluene adsorbates in channels. MOF-TW1 was obtained serendipitously upon a reaction attempt to attain a mixed-metal product, instead attaining a Cu(I)-only product with interconnected four-coordinate dinuclear units. Likewise, 3 was obtained through a transmetalation of all Ag atoms in 4 to replace them by Cu atoms. Three reactions (to obtain 1, 4, and 5) were successfully carried out by both solvent-mediated and solventless transformations, whereas 2 and 3 were obtained only by solvent-mediated reactions, while 6 was attainable only by solventless transformations. The solventless transformations occurred either by sublimation and vapor diffusion or by mechanical grinding at ambient laboratory conditions-without the aid of heating, high pressure, vacuum, or any automated equipment. All transformations could be monitored by the human eye as the reaction progresses, as evidenced by progressive discoloration and/or luminescence changes. All crystal structures were obtained with the aid of conventional crystal growth methods from organic solvents for bulk products obtained from both solvelntless and solvent-mediated reactions. Powder X-ray diffraction was used to compare bulk products with one another and the crystallographic products. All Cu(I) products are colored and nonluminescent; the progress of their vapor diffusion-based solventless reactions can be followed by gradual discoloration of white solid reactants and/or quenching precursor's phosphorescence. Both Ag(I) products were colorless with 4 being luminescent but not 5.
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Recientemente se han desarrollado intervenciones escolares breves basadas en teorías motivacionales y de psicología social. Estas intervenciones, algunas de solamente 15 minutos, han obtenido resultados positivos a largo plazo sobre dominios como el desempeño académico y la convivencia escolar. Este artículo hace una revisión de sus objetivos, características, fundamentos teóricos, evaluaciones y condiciones necesarias para su diseño e implementación. En general, el objetivo de estas intervenciones breves es transformar creencias, pensamientos o sentimientos de un segmento particular de la población estudiantil, considerado en riesgo. Además, buscan romper círculos viciosos al intervenir en momentos específicos de procesos recursivos. Finalmente, esta revisión analiza sus alcances, implicaciones y limitaciones, y sugiere futuras investigaciones.
Recently, brief school interventions based on motivational theories and social psychology have been developed. These interventions, some 15 minutes in length, have demonstrated positive results in the long term in areas such as academic achievement and a positive school environment. This article reviews the objectives, characteristics, theoretical foundations, evaluations, and necessary conditions for their design and implementation. In general, the objective of these brief interventions is to transform beliefs, thoughts, or feelings concerning a particular segment of the student population that is considered to be at risk. Furthermore, these interventions seek to interrupt vicious circles by intervening at specific moments in recursive processes. Finally, this review analyzes their scope, implications, and limitations and suggests future research.
Recentemente foram desenvolvidas intervenções escolares breves baseadas em teorias motivacionais e de psicologia social. Essas intervenções, algumas de somente 15 minutos, obtiveram resultados positivos em longo prazo sobre domínios como o desempenho acadêmico e a convivência escolar. Este artigo faz uma revisão de seus objetivos, características, fundamentos teóricos, avaliações e condições necessárias para sua elaboração e implementação. Em geral, o objetivo dessas intervenções breves é transformar crenças, pensamentos ou sentimentos de um segmento particular da população estudantil, considerado em risco. Além disso, procuram quebrar círculos viciosos ao intervir em momentos específicos de processos recursivos. Finalmente, esta revisão analisa seus alcances, implicações e limitações, além de sugerir futuras pesquisas.
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El robo escolar es un problema muy común en colegios de todas las localidades de Bogotá. Con el propósito de profundizar sobre este fenómeno, se realizaron encuestas, entrevistas y grupos focales con noventa estudiantes de un colegio privado de nivel socioeconómico medio-alto. Los resultados indicaron que los robos en este colegio se realizan, por lo general, de manera espontánea e individual, y que los objetos robados se utilizan para uso personal y no para la venta. A pesar de que la mayoría de los estudiantes rechazan los robos, algunos minimizan su gravedad cuando la víctima tiene muchos recursos o presume de sus posesiones, o si ha dejado sus objetos descuidados. Estos resultados contrastan con un estudio similarrealizado previamente en una escuela con presencia de pandillas juveniles, el cual mostró que los robos eran realizados de manera planeada por grupos de estudiantes que dividían sus roles y vendían lo robado por fuera del colegio. A pesar de las diferencias entre colegios, la presente investigación resalta la necesidad de que se tomen en serio las denuncias de los estudiantes, se apliquen normas de manera consistente, se promueva empatía frente a las víctimas y se cuestionen justificaciones que minimizan la gravedad de los robos.
School theft is a very common problem at schools in all areas of Bogota. For the purpose of delving into this issue,surveys, interviews and focus groups were carried out with ninety students of a private upper-middle socioeconomic level school, and results showed that robberies and thefts taking place there are generally of a spontaneous and individual nature, and stolen objects intended for personal use, not for sale.Nevertheless, although most students reject these activities, they tend to minimize their seriousness particularly if the victims own significant resources or boast about their possessions or tend to be careless and leave their things behind. In contrast, the results of a similar study previously carried out in a school affected with the presence of youth gangs showed that thefts were carefully planned by groups of students playing different roles; stolen objects were then sold outside tablishments, current research stresses the fact that student complaints need to be taken seriously and empathy promoted towards the victims; rules must be applied consistently while questioning and rejecting any justifications leading to minimize the seriousness of these acts.
O roubo escolar é um problema comum nas escolas em todas as localidades de Bogotá. Para investigar esse fenômeno, realizaramse foram pesquisas, entrevistas e grupos focais com noventa alunos de uma escola privada de nível socioeconômico médio-alto. Os resultados indicaram que os roubos nesta escola são feitos, em geral, de jeito individual e espontâneo e que os objetos roubados são usados para uso pessoal e não para venda. Enquanto a maioria dos alunos rejeita o roubo, alguns minimizam sua gravidade quando a vítima tem muitos recursos ou gaba-se das suas posses, ou se deixou seus objetos abandonados. Esses resultados contrastam com um estudo semelhante realizado anteriormente em uma escola com a presença de gangues de jovens, que mostrou que os roubos foram feitos na maneira pretendida por grupos de estudantes que dividiam seus papéis e vendiam os objetos roubados fora da escola. Apesar das diferenças entre escolas, esta pesquisa destaca a necessidade de que as queixas dos alunos levamse a sério, usam-se as regras consistentemente, promovase a empatia com as vítimas e desafiemse as justificativas que minimizam a gravidade dos roubos.