A Bioinformatic Assay of Quercetin in Gastric Cancer.

Gastric cancer (GC) remains a significant global health challenge, with high mortality rates, especially in developing countries. Current treatments are invasive and have considerable risks, necessitating the exploration of safer alternatives. Quercetin (QRC), a flavonoid present in various plants and foods, has demonstrated multiple health benefits, including anticancer properties. This study investigated the therapeutic potential of QRC in the treatment of GC. We utilized advanced molecular techniques to assess the impact of QRC on GC cells, examining its effects on cellular pathways and gene expression. Our findings indicate that QRC significantly inhibits GC cell proliferation and induces apoptosis, suggesting its potential as a safer therapeutic option for GC treatment. Further research is required to validate these results and explore the clinical applications of QRC in cancer therapy.

Physiology and comparative genomics of the haloalkalitolerant and hydrocarbonoclastic marine strain Rhodococcus ruber MSA14.

Marine hydrocarbonoclastic bacteria can use polycyclic aromatic hydrocarbons as carbon and energy sources, that makes these bacteria highly attractive for bioremediation in oil-polluted waters. However, genomic and metabolic differences between species are still the subject of study to understand the evolution and strategies to degrade PAHs. This study presents Rhodococcus ruber MSA14, an isolated bacterium from marine sediments in Baja California, Mexico, which exhibits adaptability to saline environments, a high level of intrinsic pyrene tolerance (> 5 g L- 1), and efficient degradation of pyrene (0.2 g L- 1) by 30% in 27 days. Additionally, this strain demonstrates versatility by using naphthalene and phenanthrene as individual carbon sources. The genome sequencing of R. ruber MSA14 revealed a genome spanning 5.45 Mbp, a plasmid of 72 kbp, and three putative megaplasmids, lengths between 110 and 470 Kbp. The bioinformatics analysis of the R. ruber MSA14 genome revealed 56 genes that encode enzymes involved in the peripheral and central pathways of aromatic hydrocarbon catabolism, alkane, alkene, and polymer degradation. Within its genome, R. ruber MSA14 possesses genes responsible for salt tolerance and siderophore production. In addition, the genomic analysis of R. ruber MSA14 against 13 reference genomes revealed that all compared strains have at least one gene involved in the alkanes and catechol degradation pathway. Overall, physiological assays and genomic analysis suggest that R. ruber MSA14 is a new haloalkalitolerant and hydrocarbonoclastic strain toward a wide range of hydrocarbons, making it a promising candidate for in-depth characterization studies and bioremediation processes as part of a synthetic microbial consortium, as well as having a better understanding of the catabolic potential and functional diversity among the Rhodococci group.

Malnutrition: muscle wasting, inflammation, RDW, and their relation with adverse outcomes.

OBJECTIVE: The objective of the study was to explore red cell distribution width (RDW) as a surrogate marker of inflammation, alone and in conjunction with muscle wasting to predict malnutrition-related adverse outcomes. METHODS: This was a single-center observational study including adult hospitalized patients. Demographic variables, malnutrition criteria, and RDW were captured within 24 hours of hospital admission. Correlation tests and regression models were performed between these variables (RDW and muscle wasting) and adverse outcomes (in-hospital mortality and unplanned transfer to critical care areas (CCA). RESULTS: Five hundred and forty-five patients were included in the final analysis. Muscle wasting showed an independent association with adverse outcomes in every regression model tested. RDW alone showed fair predictive performance for both outcomes' significance and the adjusted model with muscle wasting showed association only for unplanned transfer to CCA. CONCLUSION: RDW did not improve the prediction of adverse outcomes compared to muscle wasting assessed by physical examination and simple indexes for acute and chronic inflammation. Malnourished patients presented higher RDW values showing a possible metabolic profile (higher inflammation and lower muscle). It is still unknown whether nutrition support can influence RDW value over time as a response marker or if RDW can predict who may benefit the most from nutritional support.

OBJETIVO: Explorar el ancho de distribución eritrocitaria (ADE) como un marcador subrogado de inflamación, individualmente y en conjunto con el desgaste muscular, para predecir resultados adversos asociados a la desnutrición. MÉTODO: Estudio unicéntrico, observacional, incluyendo pacientes adultos hospitalizados. Se capturaron variables demográficas, criterios de desnutrición y el ADE en las primeras 24 horas de ingreso. Se realizaron pruebas de correlación y modelos de regresión entre dichas variables (ADE y desgaste) y resultados adversos (mortalidad hospitalaria y traslado no planeado a áreas críticas). RESULTADOS: Se incluyeron 545 pacientes. El desgaste muscular mostró asociación independiente con los resultados adversos en cada modelo. El ADE individualmente mostró un desempeño aceptable para la predicción de ambos resultados, y en modelos ajustados con desgaste muscular mostró asociación únicamente con traslado no planeado a áreas críticas. CONCLUSIONES: El ADE no mejoró la predicción de resultados adversos comparado con el desgaste muscular por exploración física e índices simples de inflamación. Los pacientes con desnutrición presentaron mayores valores de ADE, mostrando un posible perfil metabólico (mayor inflamación y menos músculo). Aún se desconoce si el soporte nutricional puede influenciar el ADE como un marcador de respuesta o si puede predecir una respuesta favorable al soporte nutricional.

ADHERENCE AND PERSISTENCE TO TREATMENT WITH INFLIXIMAB: ANALYSIS OF A PATIENT SUPPORT PROGRAM COHORT IN BRAZIL.

BACKGROUND: Monoclonal antibodies have proven efficacy in the management of several conditions and infliximab (IFX) is one of the most important drugs of the class. Some recent data have shown low rates of both persistence and adherence to several available biologics. OBJECTIVE: The objective of this study was to describe adherence and persistence rate to IFX treatment and also persistence in the patient support program (PSP), among patients diagnosed with inflammatory bowel diseases (IBD) or rheumatic diseases (RD) enrolled in the program of a large pharmaceutical company in Brazil. METHODS: Retrospective observational analysis using the PSP database. IBD or RD patients using IFX enrolled on the PSP database between September 2015 and August 2019 were retrospectively evaluated to identify the persistence rate and adherence and followed up until March 1, 2020. Patients were excluded if treatment start date was prior to program entry; first infusion prior to September 1st, 2015 or after August 31st, 2019; the patients did not started treatment; and patients with "OTHERS" in "Indication" field. Persistence was assessed considering both persistence in the program ("PSP persistence") and persistence on IFX in the PSP ("IFX persistence in the PSP"). PSP persistence was defined as the proportion of patients remaining in the program at 6, 12, 24, 36 and 48 months after initiating IFX. To determine IFX persistence in the PSP, censoring was defined at the time the patient left the program, died, or was lost to follow-up. Adherence to treatment was measured by medication possession ratio ((MPR) - All days supply / elapsed days from first prescription to last day of medication possession)). Descriptive statistics were initially used. Kaplan-Meier curve, the median time estimated by the survival function, Cox regression model, and restricted mean survival time (RMST) were used to evaluate the treatment persistence time at 24 months and the logistic regression model was performed aiming to identify variables associated with adherence (MPR ≥80%). RESULTS: A total of 10,233 patients were analyzed, 5,826 (56.9%) with the diagnosis of RD and 4,407 (43.1%) of IBD. At the end of the follow-up (median 9.1 months from PSP entry to the last infusion), persistence in the PSP was 65.6%, 48.2%, 31.0%, 20.7% and 13.1% at 6, 12, 24, 36 and 48 months, respectively. Considering persistence on IFX in the PSP, estimates were 93.7%, 87.8%, 77.0%, 62.4% and 53.0% at 6, 12, 24, 36 and 48 months, respectively. Variables associated with the risk of non-persistence were gender, country region and diagnosis of rheumatoid arthritis and ankylosing spondylitis. Median MPR was 94.2%, while the percentage of patients with MPR ≥80% was 91.0%. Variables associated with MPR≥80% were country region and diagnosis of Crohn's disease. CONCLUSION: Many patients leave the program without discontinuing IFX, since the 12-month persistence were very different between program and medication estimates, while high adherence rates were observed among patients enrolled in the PSP. Data highlights the benefits of a PSP.

Dopamine D2 receptor antagonist counteracts hyperglycemia and insulin resistance in diet-induced obese male mice.

Obesity leads to insulin resistance (IR) and type 2 diabetes. In humans, low levels of the hormone prolactin (PRL) correlate with IR, adipose tissue (AT) dysfunction, and increased prevalence of T2D. In obese rats, PRL treatment promotes insulin sensitivity and reduces visceral AT adipocyte hypertrophy. Here, we tested whether elevating PRL levels with the prokinetic and antipsychotic drug sulpiride, an antagonist of dopamine D2 receptors, improves metabolism in high fat diet (HFD)-induced obese male mice. Sulpiride treatment (30 days) reduced hyperglycemia, IR, and the serum and pancreatic levels of triglycerides in obese mice, reduced visceral and subcutaneous AT adipocyte hypertrophy, normalized markers of visceral AT function (PRL receptor, Glut4, insulin receptor and Hif-1α), and increased glycogen stores in skeletal muscle. However, the effects of sulpiride reducing hyperglycemia were also observed in obese prolactin receptor null mice. We conclude that sulpiride reduces obesity-induced hyperglycemia by mechanisms that are independent of prolactin/prolactin receptor activity. These findings support the therapeutic potential of sulpiride against metabolic dysfunction in obesity.

Risk-based lung cancer screening performance in a universal healthcare setting.

Globally, lung cancer is the leading cause of cancer death. Previous trials demonstrated that low-dose computed tomography lung cancer screening of high-risk individuals can reduce lung cancer mortality by 20% or more. Lung cancer screening has been approved by major guidelines in the United States, and over 4,000 sites offer screening. Adoption of lung screening outside the United States has, until recently, been slow. Between June 2017 and May 2019, the Ontario Lung Cancer Screening Pilot successfully recruited 7,768 individuals at high risk identified by using the PLCOm2012noRace lung cancer risk prediction model. In total, 4,451 participants were successfully screened, retained and provided with high-quality follow-up, including appropriate treatment. In the Ontario Lung Cancer Screening Pilot, the lung cancer detection rate and the proportion of early-stage cancers were 2.4% and 79.2%, respectively; serious harms were infrequent; and sensitivity to detect lung cancers was 95.3% or more. With abnormal scans defined as ones leading to diagnostic investigation, specificity was 95.5% (positive predictive value, 35.1%), and adherence to annual recall and early surveillance scans and clinical investigations were high (>85%). The Ontario Lung Cancer Screening Pilot provides insights into how a risk-based organized lung screening program can be implemented in a large, diverse, populous geographic area within a universal healthcare system.

Targets and Effects of Common Biocompounds of Hibiscus sabdariffa (Delphinidin-3-Sambubiosid, Quercetin, and Hibiscus Acid) in Different Pathways of Human Cells According to a Bioinformatic Assay.

The utilization of food as a therapeutic measure for various ailments has been a prevalent practice throughout history and across different cultures. This is exemplified in societies where substances like Hibiscus sabdariffa have been employed to manage health conditions like hypertension and elevated blood glucose levels. The inherent bioactive compounds found in this plant, namely, delphinidin-3-sambubioside (DS3), quercetin (QRC), and hibiscus acid (HA), have been linked to various health benefits. Despite receiving individual attention, the specific molecular targets for these compounds remain unclear. In this study, computational analysis was conducted using bioinformatics tools such as Swiss Target Prediction, ShinnyGo 0.77, KEGG, and Stringdb to identify the molecular targets, pathways, and hub genes. Supplementary results were obtained through a thorough literature search in PubMed. DS3 analysis revealed potential genetic alterations related to the metabolism of nitrogen and glucose, inflammation, angiogenesis, and cell proliferation, particularly impacting the PI3K-AKT signaling pathway. QRC analysis demonstrated interconnected targets spanning multiple pathways, with some overlap with DS3 analysis and a particular focus on pathways related to cancer. HA analysis revealed distinct targets, especially those associated with pathways related to the nervous system. These findings emphasize the necessity for focused research on the molecular effects of DS3, QRC, and HA, thereby providing valuable insights into potential therapeutic pathways.

Exquisite exposure: Formaldehyde as a metabolic regulator.

Throughout life, whether through external consumption or internal production, we are exposed to different reactive metabolites considered toxic to the body. Pham et al.1 uncover metabolic regulation by one such harmful metabolite: formaldehyde.

Adesão e persistência ao tratamento com infliximabe: análise de uma coorte de um programa de suporte ao paciente no Brasil / Adherence and persistence to treatment with infliximab: analysis of a patient support program cohort in brazil

ABSTRACT Background: Monoclonal antibodies have proven efficacy in the management of several conditions and infliximab (IFX) is one of the most important drugs of the class. Some recent data have shown low rates of both persistence and adherence to several available biologics. Objective: The objective of this study was to describe adherence and persistence rate to IFX treatment and also persistence in the patient support program (PSP), among patients diagnosed with inflammatory bowel diseases (IBD) or rheumatic diseases (RD) enrolled in the program of a large pharmaceutical company in Brazil. Methods: Retrospective observational analysis using the PSP database. IBD or RD patients using IFX enrolled on the PSP database between September 2015 and August 2019 were retrospectively evaluated to identify the persistence rate and adherence and followed up until March 1, 2020. Patients were excluded if treatment start date was prior to program entry; first infusion prior to September 1st, 2015 or after August 31st, 2019; the patients did not started treatment; and patients with "OTHERS" in "Indication" field. Persistence was assessed considering both persistence in the program ("PSP persistence") and persistence on IFX in the PSP ("IFX persistence in the PSP"). PSP persistence was defined as the proportion of patients remaining in the program at 6, 12, 24, 36 and 48 months after initiating IFX. To determine IFX persistence in the PSP, censoring was defined at the time the patient left the program, died, or was lost to follow-up. Adherence to treatment was measured by medication possession ratio ((MPR) - All days supply / elapsed days from first prescription to last day of medication possession)). Descriptive statistics were initially used. Kaplan-Meier curve, the median time estimated by the survival function, Cox regression model, and restricted mean survival time (RMST) were used to evaluate the treatment persistence time at 24 months and the logistic regression model was performed aiming to identify variables associated with adherence (MPR ≥80%). Results: A total of 10,233 patients were analyzed, 5,826 (56.9%) with the diagnosis of RD and 4,407 (43.1%) of IBD. At the end of the follow-up (median 9.1 months from PSP entry to the last infusion), persistence in the PSP was 65.6%, 48.2%, 31.0%, 20.7% and 13.1% at 6, 12, 24, 36 and 48 months, respectively. Considering persistence on IFX in the PSP, estimates were 93.7%, 87.8%, 77.0%, 62.4% and 53.0% at 6, 12, 24, 36 and 48 months, respectively. Variables associated with the risk of non-persistence were gender, country region and diagnosis of rheumatoid arthritis and ankylosing spondylitis. Median MPR was 94.2%, while the percentage of patients with MPR ≥80% was 91.0%. Variables associated with MPR≥80% were country region and diagnosis of Crohn's disease. Conclusion: Many patients leave the program without discontinuing IFX, since the 12-month persistence were very different between program and medication estimates, while high adherence rates were observed among patients enrolled in the PSP. Data highlights the benefits of a PSP.

RESUMO Contexto: Os anticorpos monoclonais têm eficácia comprovada no manejo de diversas condições e o infliximabe (IFX) é um dos medicamentos mais importantes da classe. Alguns dados recentes demonstram baixas taxas de persistência e adesão a vários dos biológicos disponíveis. Objetivo: O objetivo deste estudo foi descrever a adesão e persistência ao tratamento com IFX e a persistência no programa de suporte ao paciente (PSP), entre pacientes diagnosticados com doenças inflamatórias intestinais (DII) ou doenças reumáticas (DR) inscritos no PSP de uma grande indústria farmacêutica no Brasil. Métodos: Análise observacional retrospectiva utilizando o banco de dados do PSP. Pacientes com DII ou DR usando IFX inscritos no banco de dados do PSP entre setembro de 2015 e agosto de 2019 foram avaliados retrospectivamente para identificar a taxa de persistência e adesão e acompanhados até 1º de março de 2020. Os pacientes foram excluídos se a data de início do tratamento fosse anterior à entrada no programa; primeira infusão antes de 1º de setembro de 2015 ou após 31 de agosto de 2019; o paciente não iniciou o tratamento; e pacientes com "OUTROS" no campo "indicação". A persistência foi avaliada considerando tanto a persistência no programa ("persistência PSP") quanto a persistência em uso de infliximabe no PSP ("persistência IFX no PSP"). A persistência no PSP foi definida como a proporção de pacientes que permaneceram no programa aos 6, 12, 24, 36 e 48 meses após o início do IFX. Para determinar a persistência do IFX no PSP, a censura foi definida quando o paciente deixou o programa, morreu ou perdeu o acompanhamento. A adesão ao tratamento foi medida pela razão de posse do medicamento (MPR)): todos os dias de fornecimento / decorridos da primeira prescrição ao último dia de posse do medicamento). A estatística descritiva foi inicialmente utilizada. A curva de Kaplan-Meier, o tempo mediano estimado pela função de sobrevida, o modelo de regressão de Cox e o tempo de sobrevida médio restrito (RMST) foram utilizados para avaliar o tempo de persistência do tratamento em 24 meses e o modelo de regressão logística foi realizado para identificar variáveis associadas à adesão (MPR ≥80%). Resultados: Foram analisados 10.233 pacientes, 5.826 (56,9%) com diagnóstico de DR e 4.407 (43,1%) de DII. Ao final do seguimento (mediana de 9,1 meses desde a entrada no PSP até a última infusão), a persistência no PSP foi de 65,6%, 48,2%, 31,0%, 20,7% e 13,1% aos 6, 12, 24, 36 e 48 meses, respectivamente. Considerando a persistência no IFX no PSP, as estimativas foram de 93,7%, 87,8%, 77,0%, 62,4% e 53,0% aos 6, 12, 24, 36 e 48 meses, respectivamente. As variáveis associadas ao risco de não persistência foram sexo, região do país e diagnóstico de artrite reumatoide e espondilite anquilosante. A mediana do MPR foi de 94,2%, enquanto o percentual de pacientes com MPR ≥80% foram de 91,0%. As variáveis associadas a MPR ≥80% foram região do país e diagnóstico de doença de Crohn. Conclusão: Muitos pacientes abandonam o programa sem interromper o IFX, pois a persistência em 12 meses foi muito diferente entre as estimativas do programa e da medicação, enquanto altas taxas de adesão foram observadas entre os pacientes inscritos no PSP. Os dados destacam os benefícios de um PSP.

Variables predictoras de la satisfacción vital: Comparaciones entre estudiantes universitarios de minorías sexuales en Chile / Predictors of life satisfaction: Comparisons between university students from sexual minorities in Chile

Resumen En tiempos recientes, la literatura en psicología sobre orientación sexual ha pasado de centrarse en aspectos negativos experimentados por personas no heterosexuales a examinar factores que potencien el bienestar de estas. Estos estudios se han enfocado mayoritariamente en lesbianas y hombres gay (orientación hacia un único género o monosexual), mientras la inclusión de otras orientaciones, como bisexual y pansexual (orientaciones hacia más de un género o plurisexual) es un interés emergente. En Latinoamérica, un tema poco explorado en este sentido es la satisfacción vital y las variables asociadas, como el apoyo social y el revelar la orientación sexual, y cómo estas pueden variar entre personas de distintas orientaciones no heterosexuales. Por ello, el objetivo general de este estudio fue comparar el grado de revelación de la orientación sexual, el apoyo social percibido, la conexión con la comunidad LGBTIQ+ (sigla que incluye a lesbianas, gay, bisexual, transgénero, transexual, travesti, intersexual y queer) y la satisfacción vital entre estudiantes universitarios lesbianas y gays (LG), y bisexuales y pansexuales (BP). La muestra fue tomada entre 82 estudiantes universitarios LGBP, quienes respondieron un cuestionario en línea que incluía datos sociodemográficos y escalas destinadas a evaluar las variables en estudio. Los resultados mostraron que estudiantes universitarios LG revelan más su orientación sexual que estudiantes BP. Igualmente, se destaca la asociación positiva entre el apoyo social percibido y satisfacción vital, y entre la conexión con la comunidad LGBTIQ+ y la revelación de la orientación sexual. Este estudio contribuye al conocimiento sobre variables asociadas a la satisfacción vital según la orientación sexual, diferenciando entre estudiantes universitarios lesbianas y gays y estudiantes bisexuales y pansexuales.

Abstract In recent years, there has been a growing shift in research on sexual orientation. This focus has moved from centering on negative experiences, related to psychopathology and stigmatization, to examining subjective well-being factors in individuals belonging to these populations. In Latin American countries such as Chile, a scarcely explored link in this regard is satisfaction with life -the cognitive component of subjective well-being- and associated variables. The minority stress model indicates that individuals who belong to minority groups are exposed to additional stressors to which the general population is not exposed. These specific stressors are related to the marginalization, prejudice and exclusion suffered by the minority group of belonging. Researchers have shown that these stressors and their consequences may result in lower life satisfaction in non-heterosexual people compared to their heterosexual peers. Furthermore, different non-heterosexual orientations face specific forms of prejudice and, therefore, could experience a different impact on their life satisfaction. In this paper, the distinction is made between individuals with a monosexual orientation (towards one gender) and those with a plurisexual orientation, (towards more than one gender or independently of gender); namely, lesbians and gay men (LG) on the one hand, and bisexuals and pansexuals (BP) on the other. Research indicates that BP people experience lower levels of well-being than LG individuals. Compared to the latter, BP individuals tend to disclose their sexual orientation to a lesser extent, perceive less social support, and experience greater exclusion from community spaces destined to the general community of lesbian, gay, bisexual, transgender, intersex, and other queer identities (LGBTIQ+). Moreover, these differences between non-heterosexual orientations in terms of life satisfaction have been little explored in Latin American university students. To fill this gap in the literature, the general objective of this study was to compare the levels of disclosure of sexual orientation, perceived social support, connectedness with the LGBTIQ+ community, and life satisfaction among lesbian, gay, bisexual, and pansexual university students. Four hypotheses were proposed that addressed the comparisons between LG and BP participants for these variables. A non-probability sample of 82 LGBP university students was recruited to answer an online questionnaire. Of the sample, 32.9 % were lesbian or gay, and 67.1 % were bisexual or pansexual. Most participants were women (67.1 %), compared to 29.3 % men and 3.7 % of another gender. The questionnaire consisted of a section of sociodemographic data, a sexual orientation disclosure scale, the Multidimensional Scale of Perceived Social Support, the LGBTIQ + Community Connectedness Scale, and the Life Satisfaction Scale. Analyses included comparisons of means between groups. A confirmatory factor analysis (CFA) was conducted for the Connectedness Scale to test its validity. Results showed that LG and BP students reported similar levels of perceived social support, community connectedness, and life satisfaction, while LG students tended to disclose their sexual orientation to more people than BP students. A positive association was also found between perceived social support and life satisfaction, and between connectedness and disclosure of sexual orientation. The CFA showed that the Connectedness Scale is valid for its use in university samples in Chile and other Latin American populations. Limitations regarding sample size and recommendations for future research are discussed. This study contributes to the knowledge about variables associated with life satisfaction in non-heterosexual university students, highlighting the differential needs for support of those with a monosexual orientation (lesbians and gays) and those with a plurisexual orientation (bisexual and pansexual).

Manejo estomatológico de mínima intervención en paciente pediátrico con tetralogía de Fallot: Reporte de caso / Gestão estomatológica com intervenção mínima em paciente pediátrico com tetralogia de Fallot: relatório de caso / Minimal intervention dentistry in a pediatric patient with tetralogy of Fallot: case report

La tetralogía de Fallot es la cardiopatía congénita cianótica más frecuente, su prevalencia es del 0,08% afectando aproximadamente a 1 de cada 8.500 nacidos vivos. El manejo de pacientes con cardiopatía congénita representa un desafío para el odontopediatra, ya que requiere conocimientos y habilidades específicas. La odontología de mínima intervención permite ofrecer a los pacientes un tratamiento gentil, mejorando el abordaje conductual ayudando a la adaptación del paciente al tratamiento dental. El objetivo de este reporte consiste describir el manejo estomatológico con odontología de mínima intervención en una paciente femenina de 5 años de edad con diagnóstico de tetralogía de Fallot. Conclusión: la odontología de mínima intervención fue eficaz para el tratamiento de paciente con cardiopatía congénita aportando herramientas significativas destinadas a mejorar la conducta, brindando tratamientos sencillos, rápidos y conservadores. Dando la posibilidad de este tipo de tratamientos en cualquier otro paciente con compromiso médico

A tetralogia de Fallot é a cardiopatia congênita cianótica mais comum, com uma prevalência de 0,08%, afetando aproximadamente 1 em 8.500 nascidos vivos. O tratamento de pacientes com cardiopatias congênitas representa um desafio para os dentistas pediátricos, pois requer conhecimentos e habilidades específicas. A odontologia de intervenção mínima permite oferecer aos pacientes um tratamento gentio, melhorando a abordagem comportamental e ajudando na adaptação do paciente ao tratamento odontológico. O objetivo deste relatório é descrever o tratamento estomatológico com intervenção odontológica mínima em um paciente de 5 anos diagnosticado com tetralogia de Fallot. Conclusão: A odontologia com intervenção mínima foi eficaz no tratamento de pacientes com doenças cardíacas congênitas, fornecendo ferramentas significativas destinadas a melhorar o comportamento, oferecendo tratamentos simples, rápidos e conservadores. Ela oferece a possibilidade deste tipo de tratamento em qualquer outro paciente com comprometimento médico

Tetralogy of Fallot is the most common cyanotic congenital heart disease, with a prevalence of 0,08%, affecting approximately 1 in every 8,500 live births. Treatment patients with congenital heart disease represents a challenge for pediatric dentists, it requires specific knowledge and skills. Minimal intervention dentistry allows offering patients a gentle treatment, improving the behavioral approach and helping the patient's adaptation to dental treatment. The aim of this report is to describe the management with minimal intervention dentistry in a 5-year-old female patient with a diagnosis of tetralogy of Fallot. Conclusion: Minimal intervention dentistry was effective in the treatment of patients with congenital heart disease, providing significant tools aimed at improving behavior, offering simple, fast and conservative treatments. It gives the possibility of this type of treatment in any other patient with medical compromise.

Clinimetric analysis of heart failure in Mexican patients / Análisis clinimétrico de la insuficiencia cardiaca en pacientes mexicanos

Abstract Heart failure (HF) is a syndrome characterized basically by a circulatory deficit to cover the metabolic and energetic demands of the body. This condition has a broad spectrum in its clinical presentation, affects the quality of life significantly, impacts the family/social environment, and generates a great demand for health services. The purpose of this research is to report the situational diagnose of patients with HF in Mexico. We evaluated 292 patients, 70.2% were men. Average age was 56.7 +- 14.3 years. Ischemic heart disease is the main etiology (98 patients, 33.9%) followed by hypertensive (22.6%) and idiopathic (23.3%) heart disease. The associated clinical background was obesity (31.1%), systemic hypertension (36.7%), myocardial infarction (26.4%), and dyslipidemia (15.1%). The most common symptom was stress dyspnea (41.4%) and jugular vein engorgement at physical examination (32.5%). Anemia was observed in 1% of patients. The average left ventricular ejection fraction was 29.2 +- 10.6%. Sinus rhythm was the most frequently detected in 84.9%. 19.9% of patients had an implantable cardioverter-defibrillator or cardiac resynchronization therapy. 13.7% of patients with QRS > 130 ms. In our population, the meta-analysis global group in chronic heart failure risk score calculated was 16.8 +- 5.7 and for EMPHASIS 3.3 +- 1.5. We observed that age at presentation in HF in this analysis is at least 10 years younger than in other reports. The grade of obesity takes relevance in our group. The association of anemia and HF in Mexico is rare.

Resumen La insuficiencia cardiaca es un síndrome caracterizado fundamentalmente por un déficit circulatorio para cubrir las demandas metabólicas y energéticas del organismo. Esta entidad tiene un amplio espectro en su presentación clínica, afecta de manera significativa la calidad de vida, impacta en el entorno familiar/social y genera una gran demanda de los servicios de salud. El propósito de esta investigación es reportar el diagnóstico situacional de pacientes con insuficiencia cardiaca (IC) en México. Evaluamos 292 enfermos, 70.2% eran hombres. Con edad promedio 56.7 +- 14.3 años. La principal etiología es la cardiopatía isquémica (33.9%), seguida de la hipertensiva (22.6%) e idiopática (23.3%). Los antecedentes clínicos asociados fueron: obesidad (31.1%), hipertensión arterial sistémica (36.7%), infarto al miocardio (26.4%) y dislipidemia (15.1%). El síntoma con mayor presentación fue la disnea de esfuerzos (41.4%) y a la exploración física la ingurgitación yugular (32.5%). Se observó anemia en 1% de los enfermos. La fracción de expulsión del ventrículo izquierdo (FEVI) promedio fue de 29.2 + 10.6%. El ritmo sinusal fue el más frecuentemente detectado en 84.9%. El 19.9% de los pacientes tenían instalado un desfibrilador automático implantable (DAI) o tratamiento de resincronización cardiaca (TRC). El 13.7% de los enfermos con QRS mayor de 130 ms. El riesgo (MAGGIC) calculado en nuestro grupo poblacional fue de 16.8 +- 5.7 y para EMPHASIS 3.3 +- 1.5. Observamos que la edad de presentación de la IC en el presente análisis es menor por 10 años en comparación con otros reportes. El grado de obesidad toma relevancia en nuestro grupo. La asociación de anemia e IC en México es poco frecuente.

Concordancia del volumen telediastólico final del ventrículo izquierdo medido por monitor ultrasónico y ecocardiografía / Concordance of the final telediastolic volume of the left ventricle measured by ultrasonic monitor and echocardiography / Concordância do volume telediastolólico final do ventrículo esquerdo medido por monitor ultra-sônico e ecocardiografia

Resumen: Antecedentes: La sepsis se ha asociado a alta mortalidad y disfunción cardiaca; la ecocardiografía es técnicamente difícil; el operador dependiente requiere personal capacitado y equipo disponible, por lo que la fórmula de Smith & Madigan (SMII), a través del monitor ultrasónico de gasto cardiaco, es un sustituto adecuado del inotropismo, pudiéndose inferir el volumen telediastólico final del ventrículo izquierdo (VDFVI) como un indicador de precarga. Métodos: En 56 pacientes diagnosticados con shock séptico, se midieron las siguientes fórmulas usando monitor ultrasónico de gasto cardiaco y comparándose con el volumen telediastólico final por ecocardiografía. SMII = (VS × (PAM - PVC + Gp))/(7.5 × SC × TF) VDFVI = VS × 2.7/SMII. Resultados: Comparamos los resultados medidos por ecocardiografía y fórmula de Smith & Madigan, usando el método de Bland & Altman, obtuvimos un R2=0.92, un coeficiente de Linn de 0.92 con LC95% más alto 32.45, LC95% inferior-39.45 y una tasa de error de 32%. Conclusión: La fórmula de Smith & Madigan podría ser útil para el cálculo de volumen telediastólico final del ventrículo izquierdo; aunque debemos determinar si esta medida es útil para tomar decisiones clínicas, ya que el porcentaje de error es mayor al 20%.

Abstract: Background: Sepsis has been associated with high mortality and cardiac dysfunction, echocardiography is technically difficult, depends on the operator, requires trained personnel and available equipment, so the Smith & Madigan formula (SMII) through the cardiac output monitor Ultrasonic is an adequate substitute of inotropism, being able to infer the final end-diastolic volume of the left ventricle (VDFVI) as indicator of preload. Methods: In 56 patients diagnosed with septic shock, the following formulas were measured by an ultrasonic cardiac output monitor and compared with final end-diastolic volume by echocardiography. SMII = (VS × (PAM-PVC + Gp))/(7.5 × SC × TF) VDFVI = VS × 2.7/SMII. Results: We compared the results measured by echocardiography and the Smith & Madigan formula, using the Bland & Altman method, we obtained an R2 = 0.92, a Linn coefficient of 0.92 with an LC95% higher 32.45, LC95% Lower - 39.45 and a 32% error rate. Conclusion: The Smith & Madigan formula could be useful for the calculation of final end-diastolic volume of the left ventricle. Although the percentage of error is greater than 20%, we must determine if this measure is useful for making clinical decisions.

Resumo: Contexto: A sepse tem sido associada com alta mortalidade e disfunção cardíaca. O ecocardiograma é tecnicamente difícil, operador dependente, requer pessoal treinado e equipamentos disponíveis de modo que a fórmula de Smith & Madigan (SMII) através do monitor ultra-sônico de débito cardíaco é um substituto adequado do inotropismo, sendo capaz de inferir o volume diastólico final do ventrículo esquerdo (VDFVI) como um indicador de pré-carga. Métodos: Foram mensuradas as seguintes fórmulas em 56 pacientes com diagnóstico de choque séptico, por meio de um monitor ultra-sônico do débito cardíaco e comparadas ao volume telediastólico ao final pelo ecocardiograma. SMII = (VS × (PAM-PVC + Gp))/(7.5 × SC × TF) VDFVI = VS X 2.7/SMII. Resultados: Comparou-se os resultados medidos pela ecocardiografia e a fórmula de Smith & Madigan utilizando o método de Bland & Altman, obtivemos um R2 = 0.92, um coeficiente de Linn de 0.92 com um LC95% maior 32.45, LC95% Inferior - 39.45 e uma Taxa de erro de 32%. Conclusão: A fórmula de Smith & Madigan poderia ser útil para o cálculo do volume telediastólico final do ventrículo esquerdo. Embora a porcentagem de erro seja maior que 20% devemos determinar se essa medida é útil para tomar decisões clínicas.

Angina renal: «El principio del fin¼ / Renal angina: «The beginning of the end¼ / Angina renal: «O começo do fim¼

Resumen: La lesión renal aguda es una de las entidades más comunes en el Área de Terapia Intensiva, llega a presentarse hasta en 50% de los enfermos que ingresan a la Unidad de Terapia Intensiva. Se han desarrollado herramientas de detección de riesgo de lesión renal aguda, las cuales utilizan información de rutina altamente accesible (AKI predictor). El objetivo es determinar el desempeño de AKI predictor en la detección de daño renal y requerimiento de terapia sustitutiva renal (TSR) en pacientes adultos admitidos a la Unidad de Terapia Intensiva. Material y métodos: Se recolectaron de manera retrospectiva variables demográficas, bioquímicas, clínicas y el valor de AKI predictor al ingreso y 24 horas de cada paciente admitido en un periodo de ocho meses; asimismo, se determinó el concepto de daño renal definido como requerimiento de TSR y/o progresión de daño renal definida como un incremento de la creatinina ≥ 0.3 mg/dL en 24 horas y/o presencia de diuresis < 0.5 mL/kg/hora a las 48 horas. Se construyeron curvas receiver operating characteristics con el fin de determinar el desempeño del AKI predictor en la detección de daño renal o requerimiento de TSR por separado. Resultados: Se incluyó un total de 95 pacientes, donde aquéllos con daño renal mostraron mayor gravedad de la enfermedad por Sequential Organ Failure Assessment score, mayor proporción de pacientes con sepsis, uso de vasopresores, mortalidad y estancia en la Unidad de Terapia Intensiva. La herramienta AKI predictor calculada al ingreso mostró un área bajo la curva significativa de 0.76 para le detección de daño renal, 0.85 para requerimiento de TSR y calculada a las 24 horas un área bajo la curva significativa de 0.91 para detección de TSR. Conclusiones: La herramienta AKI predictor se muestra como una opción viable en la práctica diaria para la evaluación dinámica de aquellos pacientes que muestren progresión del daño renal, dejando como última consecuencia el uso de TSR.

Abstract: Acute kidney injury (AKI) is one of the most common entities in the intensive care area. It occurs in up to 50% of patients admitted to the intensive care unit (ICU). New tools to detect AKI risk using highly accessible routine information have been developed (AKI predictor). The goal is to determine the performance of the AKI predictor tool to detect renal damage and renal replacement therapy (RRT) requirement in adult patients admitted to the ICU. Material and methods: Demographic, biochemical, clinical variables and AKI predictor percentages at admission and at 24 hours were retrospectively collected of every patient admitted in an 8 months period, likewise the concept of renal damage was determined, defined as requirement of RRT and/or an increment of creatinine ≥ 0.3 mg/dL in 24 hours and/or urine output < 0.5 mL/kg/h at 48 hours. Receiver operating characteristics curves were developed in order to determine the performance of the AKI predictor to detect renal damage or RRT requirement by separate. Results: 95 patients were included in the analysis, those with renal damage showed higher illness severity by Sequential Organ Failure Assessment score, higher proportion of these patients presented sepsis, need for vasopressors, mortality and longer UCI stay. AKI predictor tool showed a significant area under the curve (AUC) of 0.76 for renal damage detection, 0.85 for requirement of RRT and calculated at 24 hours an AUC of 0.91 for RRT requirement. Conclusions: The AKI predictor tool it is shown as a viable option in daily practice for the dynamic evaluation of those patients who will show renal damage progression until its final consequence RRT.

Resumo: Introdução: A lesão renal aguda (LRA) é uma das entidades mais comuns na área de terapia intensiva, podendo ocorrer em até 50% dos pacientes internados em unidade de terapia intensiva (UTI). Foram desenvolvidas ferramentas de detecção de risco para o LRA, que usam informações de rotina altamente acessíveis (preditor de AKI). Objetivo: Determinar o desempenho do preditor de LRA na detecção de dano renal e a necessidade de terapia renal substitutiva (TRS) em pacientes adultos admitidos na UTI. Métodos: Variáveis clínicas, demográficas, bioquímicas e o valor do preditor de IRA foram coletados retrospectivamente na admissão e 24 horas de cada paciente em um período de 8 meses, bem como o conceito de dano renal definido como requisito de TRS e/ou progressão do dano renal definido como aumento da creatinina ≥ 0.3 mg/dL em 24 horas e/ou presença de diurese < 0.5 mL/kg/hora às 48 horas. As curvas Receiver Operating Characteristics foram construídas com o objetivo de determinar o desempenho do preditor de AKI na detecção de dano renal ou exigência de TSR separadamente. Resultados: Foram incluídos 95 pacientes, sendo que aqueles com lesão renal apresentaram maior gravidade da doença devido ao escore Sequential Organ Failure Assessment, maior proporção de pacientes com sepse, uso de vasopressores, mortalidade e permanência na UTI. O instrumento preditor AKI calculado na admissão, mostrou uma área significativa sob a curva (ABC) de 0.76 para a detecção de dano renal, 0.85 para a necessidade de TSR e calculada às 24 horas um ABC significativa de 0.91 para a detecção de TSR. Conclusão: O instrumento preditor de AKI é apresentado como uma opção viável na prática diária para a avaliação dinâmica daqueles pacientes que apresentarão progressão da lesão renal até a última consequência do uso da TRS.

Proyecto de promoción de Salud "Mi Tesoro": El abuso sexual infantil o infanto-juvenil (ASI) / Health Promotion Project "My Treasure": Child sexual or child-juvenile abuse (ASI)

Introducción: El abuso sexual infantil o infanto-juvenil (ASI) es una forma de violencia a la infancia. Es toda acción que involucre a una niña o niño en una actividad de naturaleza sexual o erotizada, que no puede comprender totalmente ni está preparada para realizar o no puede consentir libremente. Es el 21% de las causales de ingreso a Programas de Protección de Derechos. Objetivo general: Promover el autocuidado de la integridad sexual en niños y niñas de 5 años del Colegio San Rafael de la comuna Lo Barnechea a través de la simbolización mediante obra de títeres. Metodología: Grupo de trabajo entre internos y equipo psicosocial de CESFAM: Planteamiento de la realidad del sector y comparación con la realidad nacional. Se diseña función de títeres basada en la simbología, articipación público, mediante diálogos pregunta-respuesta y el aprendizaje experiencial. Conclusión: Durante las actividades se verificó mediante la interacción títere-niños/as que los menores rápidamente incorporan el conocimiento sobre sí mismo y sus cuerpos. El análisis de resultados no nos permite cuantificar el impacto o aprendizaje posterior a la realización de la obra.

Child sexual abuse or child-juvenile abuse (ASI) is a form of violence against children. This is any action that involves a girl or boy in an activity of a sexual or erotic nature, who cannot fully understand or is prepared to perform or cannot consent freely. It is 21% of the grounds for admission to Rights Protection Programs. Course objective: Promote the self-care of sexual integrity in 5-year-old boys and girls of the San Rafael School in the commune of Lo Barnechea through symbolization through puppet work. Methodology: Working group between inmates and psychosocial team of CESFAM: Approach of the reality of the sector and comparison with the national reality. The puppet show is designed based on symbology, public participation, through question-answer dialogues and experiential learning. Conclusion: During the activities it was verified through puppet-children interaction that the children quickly incorporate knowledge about themselves and their bodies. The analysis of results does not allow us to quantify the impact or learning after the completion of the work.

Comparación de escalas de respuesta rápida: signos vitales, CART, qSOFA y Súper SIRS / Comparing rapid response scales: vital signs, CART, qSOFA and Super SIRS / Comparação da escala de resposta rápida os sinais vitais, cart, qSOFA e super sirs

Resumen: Introducción: Los equipos de respuesta rápida logran disminuir la mortalidad y número de paros cardiorrespiratorios fuera de áreas críticas. Se corre el riesgo de un equipo subóptimo o de sobreactivación. Se pretende buscar la herramienta más útil para la evaluación inicial de pacientes en un programa de respuesta rápida, calculando el desempeño de ciertas herramientas para detectar el requerimiento de traslado a una unidad de cuidados intensivos y mortalidad, así como la evaluación de los fallos en el rescate. Material y métodos: Estudio retrospectivo observacional en el cual se incluyeron pacientes adultos evaluados por el equipo de respuesta rápida y fallos en el rescate; se capturaron las variables demográficas, signos vitales y desenlaces (traslado a áreas críticas y mortalidad). Luego, se calcularon las escalas qSOFA, CART y Súper SIRS y el desempeño de detección de traslado a cuidados intensivos y mortalidad mediante curvas ROC. Se estimó la razón de momios para mortalidad de un fallo en el rescate y el número necesario a seguir general. Resultados: Se incluyeron un total de 158 pacientes, 40 traslados a la unidad de terapia intensiva (25.3%), 10 defunciones (6.3%) y ocho fallos en el rescate (5.1%). La escala CART mostró mayor desempeño de detección de traslado y mortalidad (áreas bajo la curva: 0.63 y 0.66, respectivamente, p < 0.05). Un fallo en el rescate aumenta el riesgo de mortalidad 61 veces y el número necesario a seguir fue de dos. Conclusión: La escala CART es la más efectiva en nuestra población para la detección de pacientes de alto riesgo; es imperativo evitar los fallos en el rescate debido al gran riesgo de mortalidad.

Abstract: Introduction: Rapid response teams can decrease mortality and the number of cardiorespiratory events outside critical areas. There is risk of a suboptimal team or over activation. It is intended to find the most useful tool for the initial assessment of patients in a rapid response team, calculating the performance of certain tools to detect the requirement of transfer to an intensive care unit and mortality, as well as the evaluation of the cases of rescue failure. Material and methods: Retrospective, observational study in which every adult patient evaluated by the rapid response team and every rescue failure were included, capturing demographic variables, vital signs and outcome (transfer to the intensive care unit and mortality). Subsequently, qSOFA, CART and Super SIRS were calculated for every patient, along with the performance of such scales for the detection of transfer and mortality using ROC curves. Odds ratios for mortality and rescue failure were calculated; also, the general number needed to treat. Results: A total of 158 patients were included, 40 transfers to the intensive care unit (25.3%), 10 deaths (6.3%) and eight rescue failures (5.1%). The CART scale showed the highest performance in the detection of transfer and mortality (areas under the curve: 0.63 y 0.66, respectively, p < 0.05). A rescue failure increased the risk of mortality 61 times, and the number needed to treat was two. Conclusion: The CART scale is the most effective tool for the detection of high risk patients in our population; it is imperative to avoid rescue failure due to the high risk of mortality.

Resumo: Introdução: As equipes de resposta rápida conseguem reduzir a mortalidade e o número de paradas cardiorrespiratórias fora das áreas críticas. Existe o risco de uma equipe sub-ótimo ou superativado. O objetivo é encontrar a ferramenta mais útil para a avaliação inicial de pacientes em um programa de resposta rápida, calculando o desempenho de determinadas ferramentas para detectar a necessidade de transferência para uma unidade de terapia intensiva e mortalidade, bem como a avaliação de falhas no resgate. Material e métodos: Estudo retrospectivo observacional em que foram incluídos pacientes adultos avaliados pela equipe de resposta rápida e falhas no resgate, capturando variáveis demográficas, sinais vitais e resultados (transferência para áreas críticas e mortalidade). Posteriormente foram calculadas as escalas qSOFA, CART e Super SIRS e o desempenho de detecção de transferência para terapia intensiva e mortalidade utilizando curvas ROC. Calculou-se odds ratio para mortalidade de uma falha no resgate e o número necessário para tratar. Resultados: Incluiu-se 158 pacientes, sendo 40 transferências para a unidade de terapia intensiva (25.3%), 10 óbitos (6.3%) e 8 falhas no resgate (5.1%). A escala CART apresentou maior desempenho detecção de transferência e de mortalidade (áreas sob a curva: 0.63 e 0.66, respectivamente, p < 0.05). Uma falha no resgate aumenta o risco de mortalidade 61 vezes e o número necessário a seguir foi de 2. Conclusão: A escala CART é a mais efetiva em nossa população para a detecção de pacientes de alto risco, sendo imperativo evitar falhas no resgate devido ao grande risco de mortalidade.

Carcinoma papilar de quiste tirogloso: reporte de caso y revisión de la literatura / Papillary carcinoma of thyroglossal cyst: a case report and literature review

Resumen Introducción El carcinoma con localización en quiste tirogloso tiene una baja frecuencia, se encuentra alrededor del 1% de los pacientes con este padecimiento; la histología más frecuente es el carcinoma papilar de tiroides. Se realiza la descripción de un caso de carcinoma papilar de quiste tirogloso. Caso clínico Masculino de 54 años con tumor cervical anterior de seis meses de evolución, de 3 × 5 cm por cinco centímetros de diámetro. Ultrasonido de tiroides con nódulo tiroideo derecho TIRADS 4c, adenopatías sospechosas en nivel VI. Se realizó tiroidectomía total + Sistrunk, con reporte patológico de carcinoma papilar. Infiltró la cápsula y fibras del músculo estriado pretiroideo, tumor de lóbulo derecho de 2 × 1.5 × 1.3 cm, lóbulo izquierdo de 3.5 × 3 × 4 cm; se aplicó dosis de I-131. Discusión No existe un consenso acerca del tratamiento ideal del carcinoma papilar en el quiste tirogloso, aunque parece ser el tratamiento más adecuado la cirugía de Sistrunk con tiroidectomía total. Al tratarse de una presentación de cáncer bien diferenciado de tiroides poco frecuente, será difícil hacer conclusiones con un alto nivel de evidencia, pero deberán ser orientadas por las guías actuales para cáncer bien diferenciado de tiroides y tomar decisiones en equipos multidisciplinarios.

Abstract Introduction Carcinomas with thyroglossal cyst localization have a low frequency, about 1% of patients present this disease; the most frequent histology is papillary thyroid carcinoma. We describe a case of papillary carcinoma of thyroglossal cyst. Clinical case A 54-year-old man with an anterior cervical tumor of six months of evolution, not mobile, not painful, with diameters of 3 × 5 cm. Thyroid ultrasound with right thyroid nodule TIRADS 4c and suspicious adenopathies in level VI. Total thyroidectomy + Sistrunk was performed, with pathological report of multifocal conventional variant papillary carcinoma. It infiltrated thyroid capsule and adjacent prethyroid muscles; right lobe tumor 2 × 1.5 × 1.3 cm, left lobe tumor 3.5 × 3 × 4 cm; then, I-131 dose was applied. Discussion There is no consensus regarding the ideal treatment of papillary carcinoma in the thyroglossal cyst, although Sistrunk surgery with total thyroidectomy seems to be the most appropriate one. As this is a rare presentation of well-differentiated thyroid cancer, it could be difficult to draw conclusions with a high level of evidence for its management, but they should be guided by current guidelines of well-differentiated thyroid cancer and decisions should be made in multidisciplinary teams.

Evaluación psicométrica de la escala de felicidad de Lima en una muestra mexicana / Psychometric Evaluation of the Happiness Scale of Lima in a Mexican Sample

Resumen México está entre los países más felices del mundo a pesar de sus bajas puntuaciones en prácticamente todos los elementos que proveen bienestar, y requiere de indicadores psicosociales que expliquen la felicidad de los mexicanos. El objetivo de este estudio fue determinar las propiedades psicométricas de la escala de felicidad de Lima (EFL) en una muestra heterogénea mexicana. La EFL considera la felicidad como un comportamiento multidimensional con una importante carga cultural para población latina. Se realizaron análisis factorial exploratorio y análisis factorial confirmatorio mediante el método de ecuaciones estructurales. Los estudios se efectuaron con dos muestras heterogéneas de 600 mexicanos cada una. Los resultados obtenidos llevaron a identificar un modelo bifactorial donde el afecto positivo correlaciona positivamente con la satisfacción con la vida.

Abstract Mexico among the happiest countries in the world despite their low scores on virtually all elements that provide well-being, requires psychosocial indicators that explain the happiness of Mexicans. The objective of this study was to determine the psychometric properties of the lime happiness scale (LHS) in a heterogeneous Mexican sample. The LHS considers happiness as a multidimensional behavior with an important cultural burden for the Latino population. Exploratory factorial analysis and confirmatory factor analysis were performed using the structural equations method. The studies were carried out with two heterogeneous samples of 600 Mexicans each. The results obtained led to the identification of a bifactorial model where positive affect correlates positively with satisfaction with life.

Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente / Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy

Resumen: Introducción: La leucoencefalopatía con sustancia blanca evanescente es una de las leucodistrofias más frecuentes. Generalmente inicia en la infancia y presenta un patrón de herencia autosómica recesiva. El 90% de los casos manifiesta mutaciones en uno de los genes que codifican para las cinco subunidades del factor de iniciación eucariótica 2 (EIF2B5). El diagnóstico se realiza por las manifestaciones clínicas, hallazgos en la resonancia magnética cerebral y estudios moleculares confirmatorios. Caso clínico: Paciente masculino de 13 meses con neurodesarrollo previo normal. Antecedente de internamiento por vómito, hipertermia, irritabilidad y rechazo a la vía oral de 15 días de evolución. Ante la exploración presentó perímetro cefálico y pares craneales normales. Se encontró hipotónico, con reflejos incrementados, sin datos meníngeos ni de cráneo hipertensivo. La tomografía de cráneo mostró hipodensidad generalizada de la sustancia blanca. Egresó sin recuperar deambulación. A los 15 días presentó somnolencia y crisis convulsivas focales después de traumatismo craneoencefálico. En la resonancia magnética se observó hipointensidad generalizada de sustancia blanca. Ante la sospecha de leucoencefalopatía con sustancia blanca evanescente, se solicitó la secuenciación del gen EIF2B5, que reportó mutación homocigota c.318A>T en el exón 2. El paciente requirió múltiples hospitalizaciones por hipertermia y descontrol de crisis convulsivas. Posteriormente mostró deterioro cognitivo, motor y pérdida de la agudeza visual. Falleció a los 6 años por neumonía severa. Conclusiones: Este caso contribuye a conocer el espectro de mutaciones que se presenta en pacientes mexicanos y permite ampliar el fenotipo asociado con esta mutación.

Abstract: Background: Vanishing white matter disease is one of the most frequent leukodystrophies in childhood with an autosomal recessive inheritance. A mutation in one of the genes encoding the five subunits of the eukaryotic initiation factor 2 (EIF2B5) is present in 90% of the cases. The diagnosis can be accomplished by the clinical and neuroradiological findings and molecular tests. Case report: We describe a thirteen-month-old male with previous normal neurodevelopment, who was hospitalized for vomiting, hyperthermia and irritability. On examination, cephalic perimeter and cranial pairs were normal. Hypotonia, increased muscle stretching reflexes, generalized white matter hypodensity on cranial tomography were found. Fifteen days after discharge, he suffered minor head trauma presenting drowsiness and focal seizures. Magnetic resonance showed generalized hypointensity of white matter. Vanishing white matter disease was suspected, and confirmed by sequencing of the EIF2B5 gene, revealing a homozygous c.318A> T mutation in exon 2. Subsequently, visual acuity was lost and cognitive and motor deterioration was evident. The patient died at six years of age due to severe pneumonia. Conclusions: This case contributes to the knowledge of the mutational spectrum present in Mexican patients and allows to extend the phenotype associated to this mutation.