Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and PKD2 for the latter. TSC2 and PKD1 lie adjacent to each other, and large deletions comprising both genes lead to TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young female patient exhibiting symptoms of TSC2/PKD1 CGS in which genetic analysis disclosed two noncontiguous partial gene deletions in TSC2 and PKD1 that putatively are responsible for the manifestations of the syndrome. Further analysis revealed that both deletions appear to be de novo on the maternal chromosome, presumably with a germline origin. Despite extensive analysis, no maternal chromosomal rearrangement triggering these pathogenic variants was detected. This case elucidates a unique pathogenesis for TSC2/PKD1 CGS, diverging from the common contiguous deletions typically observed, marking the first reported instance of TSC2/PKD1 CGS caused by independent, functionally significant partial gene deletions.

Transcriptional profiling of lung macrophages following ozone exposure in mice identifies signaling pathways regulating immunometabolic activation.

Macrophages play a key role in ozone-induced lung injury by regulating both the initiation and resolution of inflammation. These distinct activities are mediated by pro-inflammatory and anti-inflammatory/proresolution macrophages which sequentially accumulate in injured tissues. Macrophage activation is dependent, in part, on intracellular metabolism. Herein, we used RNA-sequencing (seq) to identify signaling pathways regulating macrophage immunometabolic activity following exposure of mice to ozone (0.8 ppm, 3 hr) or air control. Analysis of lung macrophages using an Agilent Seahorse showed that inhalation of ozone increased macrophage glycolytic activity and oxidative phosphorylation at 24 and 72 hr post exposure. An increase in the percentage of macrophages in S phase of the cell cycle was observed 24 hr post ozone. RNA-seq revealed significant enrichment of pathways involved in innate immune signaling and cytokine production among differentially expressed genes at both 24 and 72 hr after ozone, while pathways involved in cell cycle regulation were upregulated at 24 hr and intracellular metabolism at 72 hr. An interaction network analysis identified tumor suppressor 53 (TP53), E2F family of transcription factors (E2Fs), Cyclin Dependent Kinase Inhibitor 1A (CDKN1a/p21), and Cyclin D1 (CCND1) as upstream regulators of cell cycle pathways at 24 hr and TP53, nuclear receptor subfamily 4 group a member 1 (NR4A1/Nur77), and estrogen receptor alpha (ESR1/ERα) as central upstream regulators of mitochondrial respiration pathways at 72 hr. To assess whether ERα regulates metabolic activity, we used ERα-/-- mice. In both air and ozone exposed mice, loss of ERα resulted in increases in glycolytic capacity and glycolytic reserve in lung macrophages with no effect on mitochondrial oxidative phosphorylation. Taken together, these results highlight the complex interaction between cell cycle, intracellular metabolism, and macrophage activation which may be important in the initiation and resolution of inflammation following ozone exposure.

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.

There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a diverse cohort of parents/guardians (participants) whose children received clinical GT through the NYCKidSeq program. A total of 847 participants completed surveys at baseline, post-results disclosure, and 6 months (6m) post-results. The largest population groups were Hispanic/Latino(a) (48%), White/European American (24%), and Black/African American (16%). Personal utility was assessed using the Personal Utility (PrU) scale, adapted for pediatric populations and included on the surveys. Three PrU subscales were identified using factor analysis: practical, educational, and parental psychological utility. Overall personal utility summary score and the three subscales significantly decreased after receiving results and over time. Hispanic/Latino(a) participants identified greater overall personal utility than European American and African American participants at all time points (p < 0.001) as did participants whose children received positive/likely positive results compared with those with negative and uncertain results (post-results: p < 0.001 and p < 0.001; 6m post-results: p = 0.002 and p < 0.001, respectively). Post-results, higher subscale scores were associated with lower education levels (practical, parental psychological: p ≤ 0.02) and higher levels of trust in the healthcare system (practical, parental psychological: p ≤ 0.04). These findings help to understand the perspectives of diverse parents/guardians, which is critical to tailoring pre- and post-test counseling across a variety of populations and clinical settings.

Prevención del cáncer de piel en preescolares: experiencia parental en fotoprotección

Fundamento: como promedio se han generan tres millones de casos de cáncer de piel a nivel global en los últimos años. Esta situación ocurre entre otras razones por la constante exposición a la radiación solar y la no aplicación de fotoprotección. Objetivo: determinar la experiencia parental en fotoprotección durante la infancia. Método: se realizó un estudio etnográfico en la Unidad Educativa de la Parroquia San Juan del Cantón Riobamba, Provincia Chimborazo, durante el período de estudio de octubre 2022 a octubre 2023. Se realizaron 14 entrevistas a cuidadores de preescolares, los que fueron escogidos a través del muestreo no probabilístico. Se dispuso de dos técnicas de recolección de la información: el autorreportaje y la entrevista semiestructurada. Resultados: se describieron cada una de las categorías que emergieron en el estudio según el nivel de frecuencia: fotounidad, fotoexperiencia-conocimiento y fotosanidad. Se construyó un mapa representacional en el cual se determinó que la familia en sí representa la fotounidad, mediante la participación de todos sus miembros en la protección de los efectos nocivos del sol. La sombrilla que cubre a la familia refleja la fotoexperiencia-conocimiento adquiridos por los cuidadores, que actúan como protección al daño solar mediante medidas preventivas y de cuidado. El sol y sus rayos solares simbolizan la fotosanidad, que corresponde a la exposición a rayos solares y sus efectos nocivos para la salud. Conclusiones: la implementación de medidas de fotoprotección desde edades tempranas resulta de vital importancia para la prevención del cáncer de piel, por lo que es necesario brindarles a los padres información adecuada sobre los riesgos solares y las medidas preventivas.

Foundation: on average, three million cases of skin cancer have been generated globally in recent years. This situation occurs among other reasons due to constant exposure to solar radiation and non-application of photoprotection. Objective: determine parental experience in photoprotection during childhood. Method: an ethnographic study was carried out in the Educational Unit of the San Juan Parish of the Cantón Riobamba, Chimborazo Province, during the study period from October 2022 to October 2023. 14 interviews were carried out with preschool caregivers, who were chosen through of non-probabilistic sampling. Two information collection techniques were available: self-report and semi-structured interview. Results: each of the categories that emerged in the study were described according to the level of frequency: photounity, photoexperience-knowledge and photosanity. A representational map was constructed in which it was determined that the family itself represents photounity, through the participation of all its members in protecting themselves from the harmful effects of the sun. The umbrella that covers the family reflects the photo-experience-knowledge acquired by the caregivers, which act as protection from sun damage through preventive and care measures. The sun and its solar rays symbolize photosanity, which corresponds to exposure to sunlight and its harmful effects on health. Conclusions: the implementation of photoprotection measures from an early age is of vital importance for the prevention of skin cancer, so it is necessary to provide parents with adequate information about sun risks and preventive measure.

The intratumor microbiome varies by geographical location and anatomical site in head and neck squamous cell carcinoma.

Head and Neck Squamous Cell Carcinoma (HNSCC) is a highly heterogeneous cancer that is characterized by distinct phenotypes based on anatomical site and etiological agents. Recently, the intratumor microbiome has been implicated in cancer pathogenesis and progression. Although it is well established that the gut microbiome varies with geographical location and is highly influenced by factors such as diet, environment, and genetics, the intratumor microbiome is not very well characterized. In this review, we aim to characterize the HNSCC intratumor microbiome by geographical location and anatomical site. We conducted a review of primary literature from PubMed and assessed studies based on relevancy and recency. To the best of our knowledge, we are the first to comprehensively examine the tumor microenvironment of HNSCC with respect to these two primary factors on a large scale. Our results suggest that there are unique bacterial and fungal biomarkers for HNSCC for each of the following geographical locations: North America, Asia, Europe, Australia, and Africa. We also identified a panel of microbial biomarkers that are unique to two primary HNSCC anatomic sites, as well as microbial biomarkers associated with various etiological agents of HNSCC. Future study of these microbes may improve HNSCC diagnostic and therapeutic modalities by accounting for differences based on geographic regions and anatomical sites.

The ecto-enzyme CD38 modulates CD4 T cell immunometabolic responses and participates in HIV pathogenesis.

Despite abundant evidence correlating T cell CD38 expression and HIV infection pathogenesis, its role as a CD4 T cell immunometabolic regulator remains unclear. We find that CD38's extracellular glycohydrolase activity restricts metabolic reprogramming after TCR-engaging stimulation in Jurkat T CD4 cells, together with functional responses, while reducing intracellular NAD and NMN concentrations. Selective elimination of CD38's ectoenzyme function licenses them to decrease the OCR/ECAR ratio upon TCR signaling and to increase cycling, proliferation, survival, and CD40L induction. Pharmacological inhibition of ectoCD38 catalytic activity in memory CD4 T cells from chronic HIV-infected patients rescued TCR-triggered responses, including differentiation and effector functions, while reverting abnormally increased basal glycolysis, cycling, and spontaneous pro-inflammatory cytokine production. Additionally, ecto-CD38 blockage normalized basal and TCR-induced mitochondrial morpho-functionality, while increasing respiratory capacity in cells from HIV+ patients and healthy individuals. Ectoenzyme CD38's immunometabolic restriction of TCR-involving stimulation is relevant to CD4 T cell biology and to the deleterious effects of CD38 overexpression in HIV disease.

Benzofurans as Acetylcholinesterase Inhibitors for Treating Alzheimer's Disease: Synthesis, in†vitro Testing, and in†silico Analysis.

Alzheimer's disease (AD) is a neurodegenerative disorder and the leading cause of dementia worldwide. It is characterized by a progressive decline in cholinergic neurotransmission. During the development of AD, acetylcholinesterase (AChE) binds to ß-amyloid peptides to form amyloid fibrils, which aggregate into plaque deposits. Meanwhile, tau proteins are hyperphosphorylated, forming neurofibrillary tangles (NFTs) that aggregate into inclusions. These complexes are cytotoxic for the brain, causing impairment of memory, attention, and cognition. AChE inhibitors are the main treatment for AD, but their effect is only palliative. This study aimed to design and synthesize novel benzofuran derivatives and evaluate their inhibition of AChE in vitro and in silico. Results: The seven synthesized benzofuran derivatives inhibited AChE in vitro. Benzofurans hydroxy ester 4, amino ester 5, and amido ester (±)-7 had the lowest inhibition constant (Ki) values and displayed good affinity for EeAChE in molecular docking. Six derivatives showed competitive inhibition, while the best compound (5: Ki=36.53 µM) exhibited uncompetitive inhibition. The amino, hydroxyl, amide, and ester groups of the ligands favored interaction with the enzyme by hydrogen bonds. Conclusion: Three benzofurans were promising AChE inhibitors with excellent Ki values. In future research on their their application to AD, 5 will be considered as the base structure.

Targeting cancer stem cell OXPHOS with tailored ruthenium complexes as a new anti-cancer strategy.

BACKGROUND: Previous studies by our group have shown that oxidative phosphorylation (OXPHOS) is the main pathway by which pancreatic cancer stem cells (CSCs) meet their energetic requirements; therefore, OXPHOS represents an Achille's heel of these highly tumorigenic cells. Unfortunately, therapies that target OXPHOS in CSCs are lacking. METHODS: The safety and anti-CSC activity of a ruthenium complex featuring bipyridine and terpyridine ligands and one coordination labile position (Ru1) were evaluated across primary pancreatic cancer cultures and in vivo, using 8 patient-derived xenografts (PDXs). RNAseq analysis followed by mitochondria-specific molecular assays were used to determine the mechanism of action. RESULTS: We show that Ru1 is capable of inhibiting CSC OXPHOS function in vitro, and more importantly, it presents excellent anti-cancer activity, with low toxicity, across a large panel of human pancreatic PDXs, as well as in colorectal cancer and osteosarcoma PDXs. Mechanistic studies suggest that this activity stems from Ru1 binding to the D-loop region of the mitochondrial DNA of CSCs, inhibiting OXPHOS complex-associated transcription, leading to reduced mitochondrial oxygen consumption, membrane potential, and ATP production, all of which are necessary for CSCs, which heavily depend on mitochondrial respiration. CONCLUSIONS: Overall, the coordination complex Ru1 represents not only an exciting new anti-cancer agent, but also a molecular tool to dissect the role of OXPHOS in CSCs. Results indicating that the compound is safe, non-toxic and highly effective in vivo are extremely exciting, and have allowed us to uncover unprecedented mechanistic possibilities to fight different cancer types based on targeting CSC OXPHOS.

Nationwide Genomic Surveillance and Response to COVID-19: The VA SeqFORCE and SeqCURE Consortiums.

Background: The US Department of Veterans Affairs (VA) has dedicated significant resources toward countering the COVID-19 pandemic. Sequencing for Research Clinical and Epidemiology (SeqFORCE) and Sequencing Collaborations United for Research and Epidemiology (SeqCURE) were developed as clinical and research consortiums, respectively, focused on the genetic COVID-19 surveillance. Observations: Through genetic sequencing, VA SeqFORCE and SeqCURE collaborations contributed to the COVID-19 pandemic response and scientific understanding. Future directions for each program include the assessment of the unique impact of COVID-19 on the veteran population, as well as the adaptation of these programs to future infectious disease threats. We foresee the use of these established platforms beyond infectious diseases. Conclusions: VA SeqFORCE and SeqCURE were established as clinical and research programs dedicated to sequencing COVID-19 as part of ongoing clinical and surveillance efforts. In the future, we anticipate that having these programs embedded within the largest integrated health care system in the US will enable the study of pathogens and pandemics beyond COVID-19 and at an unprecedented scale. The investment in these programs will form an integral part of our nation's response to emerging infectious diseases, with future applications to precision medicine and beyond.

Modelo para historia clínica en inmunodeficientes primarios, Pinar del Río / Model for clinical history in primary immunodeficient patients, Pinar del Rio

RESUMEN Introducción: los errores innatos de la inmunidad o inmunodeficiencias primarias se caracterizan por susceptibilidad incrementada a infecciones por defectos del desarrollo o función del sistema inmune. Para el diagnóstico debe incluirse la evaluación clínica, la analítica inmunológica, la evaluación genética, el seguimiento rutinario, la rediscusión diagnóstica y del tratamiento clínico. No existe una guía clara respecto a este asunto en condiciones de recursos limitados. Objetivo: diseñar un modelo para la confección de historia clínica en el paciente con sospecha de error innato de la inmunidad. Métodos: se realizó un trabajo de revisión de síntomas a contemplar en la historia clínica de pacientes con errores innatos de la inmunidad. Se formaron grupos de trabajo entre miembros del grupo provincial de Inmunología de Pinar del Río, con la posterior discusión de los aspectos que se incluyen en la historia. Resultados: se diseñaron cinco tablas que recogen: consentimiento informado; antecedentes patológicos personales relacionados con 148 manifestaciones clínicas en correspondencia con los fenotipos alérgico, infeccioso, inflamatorio, autoinmune, no inmunológico, neoplásico y otros. Se exponen antecedentes patológicos familiares y árbol genealógico; el examen físico y el resumen de los fenotipos clínicos, discusión diagnóstica y clasificación del paciente. Conclusiones: el interrogatorio, el examen físico, los antecedentes patológicos personales y familiares, así como la confección adecuada de la historia clínica son elementos imprescindibles para la aproximación al diagnóstico de los errores innatos de la inmunidad. Se debe contar con un registro de pacientes que posibilite el diagnóstico precoz y el tratamiento oportuno de la inmunodeficiencia primaria.

ABSTRACT Introduction: inborn errors of immunity or primary immunodeficiencies are characterized by increased susceptibility to infections due to defects in the development or functioning of the immune system. Diagnosis should include clinical evaluation, immunological analysis, genetic evaluation, routine follow-up, diagnostic re-discussion and clinical management. There is no clear guidance on this issue under resource-limited conditions. Objective: to design a model for clinical history in patients with suspected inborn error of immunity. Methods: a review of symptoms to be considered in the clinical history of patients with inborn errors of immunity was carried out. Working groups were formed among members of the provincial group of Immunology in Pinar del Rio province, with the subsequent discussion of the aspects to be included in the history. Results: five tables were designed to collect: informed consent; personal pathological antecedents related to 148 clinical manifestations in correspondence with allergic, infectious, inflammatory, autoimmune, non-immune, neoplastic and other phenotypes. Family pathologic history and family tree; physical examination and summary of clinical phenotypes, diagnostic discussion and classification of the patient are presented. Conclusions: the interviews, physical examination, personal and family pathologic history, as well as the adequate design of the clinical history, are considered essential elements for the approach to the diagnosis of inborn errors of immunity. A patient registry should be available to enable early diagnosis and timely treatment of primary immunodeficiency.

Resultados de una encuesta dirigida a dietistas-nutricionistas sobre la gestión de los equipos de nutrición clínica durante la pandemia de COVID-19 en centros hospitalarios de Cataluña / Results of a survey aimed at dietitians-nutritionists on the management of clinical nutrition teams during the COVID-19 pandemic in hospitals in Catalonia

Introducción: la pandemia por COVID-19 ha tenido implicaciones directas en los equipos de nutrición (EN) clínica a nivel tanto organizativo como asistencial. Desde marzo de 2020 se dispone de recomendaciones de expertos sobre la intervención nutricional en pacientes con COVID-19. Objetivos: describir la intervención nutricional que se ha llevado a cabo en los pacientes con COVID-19, estimar la presencia de dietistas-nutricionistas (DN) clínicos en los hospitales de Cataluña y conocer la organización de los EN. Métodos: estudio transversal realizado a través de una encuesta online dirigida a los DN clínicos de los hospitales de Cataluña (marzo 2021). Resultados: se han analizado las encuestas de 36 EN, formados por 104 DN. El 44,44 % de los EN han tenido que dejar de hacer o reducir alguna de sus actividades habituales durante la pandemia. Cuando se ha empleado el cribado nutricional, este se ha realizado de forma precoz (24-48 h) en el 56,25 % de los casos y la herramienta más común ha sido el NRS-2002 (66,67 %). El 41,67 % de los EN han instaurado una dieta hospitalaria específica, siendo esta generalmente hiperproteica (89,66 %). El 41,67 % de los EN han pautado la suplementación nutricional oral de forma sistemática, priorizando las fórmulas hiperproteicas (97,14 %) e hipercalóricas (74,29 %). Se estima que la figura del DN clínico está presente en aproximadamente el 61,54 % de los hospitales de agudos públicos de Cataluña. Conclusiones: los resultados reflejan la capacidad de adaptación de los EN, reorganizando y redistribuyendo sus tareas habituales e instaurando medidas poco habituales para asegurar el soporte nutricional. (AU)

Introduction: the COVID-19 pandemic has had direct implications for clinical nutrition teams (NT), both at an organizational and healthcare level. Since March 2020, expert recommendations on nutritional intervention for patients with COVID-19 have been available. Objectives: to describe the nutritional intervention that has been carried out in patients with COVID-19, to estimate the presence of clinical dietitians-nutritionists (DN) in hospitals in Catalonia, and to know the organization of NTs. Methods: a cross-sectional study through an online survey directed to clinical DNs at hospitals in Catalonia (March 2021) was made. Results: the surveys of 36 NTs, made up of 104 DNs, have been analysed. A total of 44.44 % of NTs had to interrupt or reduce some of their usual activities during the pandemic. When nutritional screening was used, it was carried out early (24-48 h) in 56.25 % of cases, and the most common tool was the NRS-2002 (66.67 %). In 41.67 % of NTs a specific hospital diet was established, this being generally hyperproteic (89.66 %). Oral nutritional supplementation was systematically prescribed by 41.67 % of NTs, prioritizing hyperproteic (97.14 %) and hypercaloric (74.29 %) formulas. It is estimated that clinical DNs are present in approximately 61.54 % of public acute hospitals in Catalonia. Conclusions: the results reflect the adaptive capacity of NTs, reorganizing and redistributing their usual tasks and establishing infrequent measures to ensure nutritional support. (AU)

El nasobuco una alternativa frente a la COVID-19 / The masks an alternative to COVID-19

El aumento de los casos de coronavirus en Cuba, ha conllevado a que muchas personas prefieran usar los nasobucos caseros, esta prenda solo atañe al personal de salud, no existe la costumbre de su utilización para protegerse de las enfermedades respiratorias agudas. Exponer los criterios con relación al uso del nasobuco es el objetivo del presente artículo. Se realiza una búsqueda bibliográfica relacionada con el tema, en la red de Infomed, en los siguientes recursos de información: Medline, CUMED; SciELO, Google Scholar; las páginas de la Organización Mundial de la Salud, Cubadebate; el periódico Escambray y el Sancti Spíritus. Se concluye que la pandemia de coronavirus ha sido un enorme reto para toda la humanidad, es necesario fomentar su uso permanente y correcto; aunque no garanticen una protección al 100 por ciento, ellos contribuyen a minimizar las cargas contaminantes del medio ambiente y cumplen con las normas higiénicas del Ministerio de Salud Pública.(AU)

The increasing of cases of coronavirus in Cuba, has taken many people to prefer using masks made at home, this object is only used by health personnel, there is no costume of its use to protect the rest of the people of acute respiratory diseases. To show the criteria related to the masks is the objective of this article. A bibliographic searching is made by Infomed, in the following information resources: Medline, CUMED; SciELO, Google Scholar; World Health Organization pages, Cubadebate; Escambray and Sancti Spíritus journals. It can be concluded that coronavirus pandemic has been a challenge for humanity, it is necessary to promote the permanent and right use of masks although they do not guarantee a 100 per cent of protection, they contribute to minimize the contaminating charges from the environment and they also fulfill the hygienic rules of the Ministry of Public Health.(AU)

La técnica de perfilación criminológica: conocimiento, características y utilidad en Colombia / The Criminal Profiling Technique: Knowledge, Characteristics and Usefulness in Colombia / A técnica do perfil criminológico: conhecimento, característica e utilidade na Colômbia

Resumen La presente investigación tuvo como objetivo indagar sobre el conocimiento, las características y la utilidad de la técnica de perfilación criminológica dentro de una muestra de actores judiciales en Colombia, quienes, por sus funciones profesionales en la investigación criminal, se encontraban en posibilidad de aplicar la técnica. La metodología incluyó la realización de entrevistas semiestructuradas a 155 funcionarios pertenecientes a las principales instituciones de administración de justicia colombiana (Fiscalía, Policía Nacional, Defensoría del Pueblo, Instituto Nacional Penitenciario y Carcelario, y miembros de la rama judicial). Entre los resultados se encuentra que los actores judiciales consideran útil la técnica por la noción de cientificidad que tienen sobre ella. Asimismo, aunque se percibe útil, es poco usada debido al desconocimiento general derivado del poco entrenamiento recibido para su ejecución. Estos resultados se discuten frente a la historia reciente del estudio en materia criminológica en el país, la formación de sus profesionales y las brechas entre la investigación académica y su uso en la práctica de investigación criminal. Se concluye que la técnica en el contexto colombiano está aún en desarrollo, actualmente cuenta con algunas guías y protocolos al interior de cada institución y requiere de mayores ejercicios de evaluación de impacto y análisis exhaustivos de su relevancia y cientificidad.

Abstract This research study's objective was to explore the knowledge, characteristics and usefulness of the criminal profiling technique within a sample of judicial actors in Colombia who, due to their professional functions in criminal investigations, could possibly apply the technique. The methodology included performing semi-structured interviews on 155 officials belonging to Colombia's main institutions for the administration of justice (Prosecutor's Office, National Police, Ombudsman's Office, National Penitentiary and Prison Institute, and members of the judicial branch). Among the results, it was observed that judicial actors consider the technique useful due to the scientific notion they have regarding it. Furthermore, although it is perceived as being useful, it is seldom used because of a general lack of knowledge derived from scant training for its execution. These results are discussed in light of the recent criminological study carried out in the country, its professionals' education and the gaps in academic research and its use in criminal investigations. It was concluded that the technique is still being developed in the Colombian context. It currently have some guides and protocols within each institution, and requires more impact assessments and comprehensive analyses regarding its relevance and scientific nature.

Resumo O objetivo desta pesquisa foi indagar sobre o conhecimento, as características e a utilidade da técnica de perfil criminológico dentro de uma amostra de atores judiciais na Colômbia que, devido às suas funções profissionais na investigação criminal, são capazes de aplicar a técnica. A metodologia incluiu a realização de entrevistas semiestruturadas com 155 funcionários pertencentes às principais instituições de administração de justiça colombiana (Procuradoria, Polícia Nacional, Defensoria do povo, Instituto Nacional Penitenciário e Carcerário, e membros do poder judiciário). Entre os resultados, encontra-se que os atores judiciais consideram a técnica útil devido à noção de cientificidade que possuem sobre ela. Da mesma forma, embora seja percebida como útil, é pouco utilizada por causa do desconhecimento geral derivado do pouco treinamento recebido para sua execução. Esses resultados são discutidos à luz da história recente do estudo da criminologia no país, da formação de seus profissionais e as brechas entre a pesquisa acadêmica e sua utilização na prática da investigação criminal. Conclui-se que a técnica, no contexto colombiano, ainda está em desenvolvimento. Atualmente possui alguns guias e protocolos dentro de cada instituição e requer maiores exercícios de avaliação de impacto e análise exaustiva de sua relevância e cientificidade.

Comparación de las recomendaciones de expertos sobre nutrición clínica en pacientes hospitalizados con COVID-19 / Comparison of expert recommendations on clinical nutrition for hospitalized patients with COVID-19

INTRODUCCIÓN: la infección por SARS-CoV-2 implica riesgo nutricional debido a la dificultad de cubrir los requerimientos nutricionales aumentados en presencia de una sintomatología que dificulta la ingesta y la absorción de nutrientes. Por otro lado, las complicaciones respiratorias agudas requieren estancias prolongadas en unidades de cuidados intensivos (UCI) y esto predispone a una mayor desnutrición y a pérdida de masa y función del músculo esquelético, que a su vez puede conducir a una mala calidad de vida, discapacidad y morbilidad mucho después del alta. Por este motivo, las principales sociedades y asociaciones de nutrición clínica del mundo consideran que la terapia nutricional debe considerarse parte del tratamiento básico de los pacientes con COVID-19. MÉTODOS: se han revisado y comparado 9 recomendaciones de expertos (RE) publicadas por sociedades y asociaciones de nutrición clínica de China, España, Brasil, Europa, Colombia, Australia, América y Reino Unido, a raíz de la pandemia por COVID-19, en relación a los pacientes hospitalizados críticos y no críticos. CONCLUSIONES: las 9 RE revisadas coinciden en la importancia del tratamiento nutricional en los pacientes hospitalizados críticos y no críticos con COVID-19, así como en la detección precoz del riesgo nutricional, la intervención y el seguimiento. Aun así, cada documento publicado tiene sus propias particularidades e incide especialmente en algún aspecto

INTRODUCTION: in SARS-CoV-2-infected patients nutritional requirements are increased. These patients present symptoms that make food intake and nutrient absorption difficult, therefore involving nutritional risk. On the other hand, acute respiratory complications require prolonged ICU stays, and this predisposes to increased malnutrition and loss of skeletal muscle mass and function, which can lead to poor quality of life, disability and morbidity long after discharge. For this reason, the world's leading nutrition societies and associations believe that nutritional therapy should be considered a part of the basic treatment of patients with COVID-19. METHODS: we have reviewed and compared 9 expert recommendations (ER) published by nutrition societies and associations from China, Spain, Brazil, Europe, Colombia, Australia, America, and the United Kingdom, in relation to critical and non-critical hospitalized patients due to the COVID-19 pandemic. CONCLUSIONS: the 9 ERs reviewed agree on the importance of nutritional management in critical and non-critical hospitalized patients with COVID-19, as well as on the early detection of nutritional risk, the intervention, and subsequent follow-up. Even so, each published document has its own particularities and puts a special stress on some specific aspect

Respuesta anticlases mayores de anticuerpos humanos séricos en antisueros hiperinmunes obtenidos en carneros / Characterization of hyperimmune anti-human serum produced in sheep

Introducción: La inmunoelectroforesis es una técnica de precipitación que permite la caracterización de muestras biológicas complejas. En el Departamento de Inmunología del Instituto de Ciencias Básicas y Preclínicas Victoria de Girón se cuenta con un antisuero hiperinmune obtenido por inmunizaciones de carneros contra proteínas totales séricas humanas y con otro antisuero anti IgA de calostro humano. Objetivo: Identificar IgG, IgM e IgA en suero humano y determinar respuesta anti IgM humana en el antisuero anti IgA de calostro humano obtenido en carnero. Material y Métodos: Se realizó un estudio observacional, descriptivo y transversal desde noviembre de 2017 hasta junio de 2018. Se desarrolló una inmunoelectroforesis de suero humano normal empleando el antisuero hiperinmune. Resultados: Se identificaron IgG, IgM e IgA además de albúmina y otras fracciones proteicas y se determinó respuesta anti IgM humana en el antisuero anti IgA de calostro humano obtenido en carnero. Conclusiones: Este trabajo permitió identificar y determinar la respuesta anticlases mayores de inmunoglobulinas en la muestra de estudio(AU)

Introduction: Immunoelectrophoresis is a precipitation technique that allows the characterization of complex biological samples. The Immunology Department of the Institute of Basic and Pre-Clinical Sciences Victoria de Girón has a hyperimmune antiserum obtained by immunization of sheep against human serum total proteins and it also has an anti-human IgA antiserum obtained from human colostrum. Objective: The aim of this study was to identify IgG, IgM and IgA in human serum and to determine response to anti-human IgM in human colostral IgA with antiserum obtained in sheep. Material and Methods: An observational descriptive cross-sectional study was conducted from November 2017 to June 2018. Immunoelectrophoresis of normal human serum was performed using hyperimmune antiserum. Results: These procedures allowed to identify IgG, IgM and IgA in addition to albumin and other protein fractions and to determine response to anti-human IgM in human colostral IgA with antiserum obtained in sheep. Conclusions: This work allowed us to identify and determine significant anti-class responses of immunoglobulins in the sample studied(AU)

Efectividad de la Página Web Historia de la Salud en Mayabeque / Effectiveness of the Health History in Mayabeque Web Page

En el 2011 la Facultad de Ciencias Médicas de Mayabeque no contaba con conexión a la red Infomed y a solicitud del departamento de Historia y Filosofía se diseñó una página web estática.Objetivo: Valorar la efectividad de la página web estática Historia de la Salud en Mayabeque a partir del uso que han hecho los usuarios de la red de bibliotecas.Método: Se realizó un estudio descriptivo de corte transversal en la red de bibliotecas de la provincia en el periodo comprendido desde septiembre del 2011 a julio del 2015. El universo estuvo constituido por los usuarios que acudieron a las 26 unidades de la red en la provincia y utilizaron la página, de las que se tomó una muestra intencional de 15 bibliotecas docentes y aleatoria de 281 usuarios.Resultados: Se operó con las variables: uso de la página, categoría de usuario, sexo y edad. Los indicadores para determinar la efectividad de la página fueron: para qué se ha usado la página y evaluación del usuario a partir de una escala de 1 a 5.Discusión: Son los estudiantes del sexo femenino los que más usan la página. Se evidencia el poco uso que hacen los profesores. La página web es efectiva atendiendo al uso realizado por sus usuarios, contribuye a su alfabetización informacional y constituye un medio de apoyo a la enseñanza(AU)

The Faculty of Medical Sciences in Mayabeque province didn't have an Infomed network connection back in 2011, therefore, as a request of the History and Philosophy Department, a static web page was designed.Objective: assessing the effectiveness of the Health History in Mayabeque static web page starting from how libraries network users have made use of it.Method: A cross section descriptive study of the libraries network was made in the province from September 2011 to July 2015. The population consisted of users who went to the 26 libraries in the province to use the page. An intentional sample of 15 teaching libraries and a random sample of 281 users was taken.Results: The following variables were taken into account: web page use, user category, sex and age. In order to determine the effectiveness of the page, the subsequent indicators were used: "what was the page used for" and assessment of the user from a 1 to 5 scale.Discussion: Female students use the page the most. The study showed professors make little use of it. The web page is effective according to the use users make of it; it contributes to their information literacy and it is a teaching aid(AU)

Efectividad de la Página Web Historia de la Salud en Mayabeque / Effectiveness of the Health History in Mayabeque Web Page

En el 2011 la Facultad de Ciencias Médicas de Mayabeque no contaba con conexión a la red Infomed y a solicitud del departamento de Historia y Filosofía se diseñó una página web estática. Objetivo: Valorar la efectividad de la página web estática Historia de la Salud en Mayabeque a partir del uso que han hecho los usuarios de la red de bibliotecas. Método: Se realizó un estudio descriptivo de corte transversal en la red de bibliotecas de la provincia en el periodo comprendido desde septiembre del 2011 a julio del 2015. El universo estuvo constituido por los usuarios que acudieron a las 26 unidades de la red en la provincia y utilizaron la página, de las que se tomó una muestra intencional de 15 bibliotecas docentes y aleatoria de 281 usuarios. Resultados: Se operó con las variables: uso de la página, categoría de usuario, sexo y edad. Los indicadores para determinar la efectividad de la página fueron: para qué se ha usado la página y evaluación del usuario a partir de una escala de 1 a 5. Discusión: Son los estudiantes del sexo femenino los que más usan la página. Se evidencia el poco uso que hacen los profesores. La página web es efectiva atendiendo al uso realizado por sus usuarios, contribuye a su alfabetización informacional y constituye un medio de apoyo a la enseñanza.

The Faculty of Medical Sciences in Mayabeque province didn't have an Infomed network connection back in 2011, therefore, as a request of the History and Philosophy Department, a static web page was designed. Objective: assessing the effectiveness of the Health History in Mayabeque static web page starting from how libraries network users have made use of it. Method: A cross section descriptive study of the libraries network was made in the province from September 2011 to July 2015. The population consisted of users who went to the 26 libraries in the province to use the page. An intentional sample of 15 teaching libraries and a random sample of 281 users was taken. Results: The following variables were taken into account: web page use, user category, sex and age. In order to determine the effectiveness of the page, the subsequent indicators were used: "what was the page used for" and assessment of the user from a 1 to 5 scale. Discussion: Female students use the page the most. The study showed professors make little use of it. The web page is effective according to the use users make of it; it contributes to their information literacy and it is a teaching aid.

La consolidación del valor responsabilidad en estudiantes universitarios desde la clase de Informática / The consolidation of the responsibility value in university students through the Computing class

En la formación de los recursos humanos para el sector de la salud, si se quiere garantizar que el país cuente con profesionales competentes y comprometidos con la obra revolucionaria, hay que tener en cuenta el perfeccionamiento y la consolidación del valor responsabilidad como expresión de garantía de la calidad de los servicios. Es por ello que el objetivo de esta comunicación es exponer acciones que pueden implementarse desde la clase de Informática para contribuir al fortalecimiento de este valor en los estudiantes universitarios. Se considera que las acciones señaladas fomentan la responsabilidad en los educandos y pueden ejecutarse en otras asignaturas para llevar a buen término el proceso docente educativo(AU)

Nivel de conocimiento sobre cólera / Level of knowledge about cholera

Introducción: el cólera es una infección diarreica aguda causada por la ingestión de alimentos o agua contaminados con el bacilo Vibrio cholerae. El conocimiento de la población sobre esta enfermedad es esencial para lograr su disminución.Objetivo: determinar el nivel de conocimiento sobre la enfermedad de cólera en la población del consultorio 6 del Policlínico Docente Marta Martínez Figuera del municipio Güines, provincia Mayabeque.Métodos: se realizó un estudio descriptivo, transversal, a 112 personas entre los meses de febrero y septiembre del año 2014. Se confeccionó un cuestionario como instrumento evaluativo que constó de 10 preguntas estratificando la muestra en 4 variables sociodemográficas y 6 para medir conocimientos. Se ponderaron las de mayor interés epidemiológico según su compromiso en respuesta al control de la enfermedad, definiéndose como Adecuado, Medio y Bajo.Resultados: el mayor porcentaje de la población encuestada eran trabajadores, con nivel medio superior recibiendo información por varias vías donde predominaron la radio, la televisión y la prensa. Solo entre un 12 y un 15 por ciento de la población expresó tener conocimiento y conductas adecuadas ante la enfermedad. Más del 50 por ciento desconoce de la sintomatología de la enfermedad y aproximadamente el 45 por ceinto desconoce de las medidas preventivas para su control.Conclusiones: se demostró que el nivel de conocimientos de la población sobre el cólera es inadecuado por lo que se deben ejecutar acciones para contribuir a elevar el mismo (AU)

Introduction: cholera is an acute diarrheic infection caused by the ingestion of contaminated foods or water with the Vibrio cholera bacilli. The knowledge of the population about this disease is essential for its diminishment.Objective: to determine the level of knowledge about cholera in the population of Doctors Office # 6 of Marta Martínez Figuera policlinic in Güines, Mayabeque province.Methods: a descriptive transversal study was carried out to 112 people from February to September 2014. A questionnaire was elaborated as an evaluative instrument consisting of 10 questions stratificating the sample in 4 socio-demographic variables and 6 to measure knowledge. The ones with greatest epidemiologic interest were approved according to the compromise of the answers related to the control of the disease defining them as Adequate, Medium and LowResults: the highest percentage of the surveyed population were the workers with medium level, receiving information by several ways where the radio, television and the press prevailed. Only between a 12 and a 15 per cent of the population expressed to have adequate knowledge and behaviors with the disease. More than the 50 per cent does not know the symptoms of the disease and approximately the 45 per cent does not know the preventive measures for its control.Conclusions: it was showed that the level of knowledge of the population about cholera is inadequate, so some actions must be executed for contributing to increase it (AU)

Estimació dels casos de mort tributàries de cures pal·liatives pediàtriques / Estimación de los casos de muerte tributarias de cuidados paliativos pediátricos / Estimation of the number of child deaths that are susceptible of benefitting from palliative care

Fonament: la mort ha estat, és i seguirà sent una realitat, per sort poc freqüent, en pediatria. La causa inicial o fonamental que pot causar la mort a un nen o una nena pot ser una malaltia aguda o crònica, que equival a una potencial mort imprevisible o previsible, respectivament. En els casos en què es pot preveure una mort abans d'arribar a l'edat adulta, independentment de les opcions curatives, estan indicades les cures pal·liatives pediàtriques (CPP). Objectiu: conèixer la situació i les causes de mortalitat de pacients entre 0 i 19 anys a Catalunya entre el període 2007-2011 i classificar les causes inicials o fonamentals en tributàries o no de CPP. Mètode.: revisió de l'estadística de mortalitat i de la causalitat d'aquesta segons fonts del Ministeri de Sanitat, Serveis Socials i Igualtat. Classificació de la causa inicial de mort entre tributàries o no de CPP, segons la classificació de Cochrane H et al. Resultats.: els primers anys de vida, la principal causa de mortalitat són les afeccions originades en el període perinatal i les malformacions congènites, en edats posteriors, els tumors i les causes externes. Més del 60% de morts en l'edat pediàtrica podrien ser tributàries de CPP a causa del caràcter amenaçant o limitant de la malaltia de base. Conclusions: l'etiologia de la mort varia en funció de l'edat. Conèixer les causes de mortalitat i les malalties tributàries de CPP permet estimar les necessitats de CPP (AU)

Fundamento. La muerte ha sido, es y seguirá siendo una realidad, por suerte poco frecuente, en pediatría. La causa inicial o fundamental que puede causar la muerte a un niño o una niña puede ser una enfermedad aguda o crónica, que equivale a una probable muerte imprevisible o previsible, respectivamente. En aquellos casos en los que se puede prever una muerte antes de llegar a la edad adulta, independientemente de las opciones curativas, están indicados los cuidados paliativos pediátricos (CPP). Objetivo. Conocer la situación y las causas de mortalidad de pacientes entre 0 y 19 años en Cataluña entre el periodo 2007-2011 y clasificar las causas iniciales o fundamentales en tributarias o no de CPP. Método. Revisión de la estadística de mortalidad y de la causalidad de ésta según fuentes del Ministerio de Sanidad, Servicios Sociales e Igualdad. Clasificación de la causa inicial de muerte entre tributarias o no de CPP, según la clasificación de Cochrane H et al. Resultados. En los primeros años de vida, la principal causa de mortalidad son las afecciones originadas en el período perinatal y las malformaciones congénitas, en edades posteriores, los tumores y las causas externas. Más del 60% de muertes en la edad 0-19 años podrían ser tributarias de CPP debido al carácter amenazante o limitante de la enfermedad de base. Conclusiones. La etiología de la muerte varía en función de la edad. Conocer las causas de mortalidad y las enfermedades tributarias de CPP permite estimar las necesidades de CPP (AU)

Background. Death has been, is, and will continue to be a reality, fortunately rare, in pediatrics. The main causes of death in children are acute or chronic diseases, which result in unexpected or foreseeable death, respectively. In those cases where death before adulthood can be foreseen there is an indication for paediatric palliative care (PPC), regardless of the curative options. Objective. To determine the status and cause of death in patients younger than 19 years in Catalonia between 2007 and 2011, and to classify the causes of death in terms of their potential for PPC services. Method. We reviewed the mortality statistics of the Spanish Ministry of Health, Social Services, and Equality, and we identified the main cause of death. We then categorized the causes of death between those who could have benefitted from PPC and those who could not, according to the Cochrane classification. Results. The main causes of death were congenital malformations or perinatal diseases in the younger age groups, and cancer and external causes in older children and adolescents. More than 60% of children who die are candidates for PPC, due to the life-threatening or life-limiting characteristics of the underlying disease. Conclusions. The cause of death varies with age. In those cases where death before adulthood could be foreseen, a comprehensive and multidisciplinary care involving the child and the family is necessary (AU)