Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the "diagnostic odyssey" for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international collaboration with Baylor College of Medicine, and the local development was structured as a hybrid model, where clinical and bioinformatics analysis were performed in-house and sequencing outsourced abroad, due to lack of high-throughput equipment in Chile. We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies, intellectual disabilities and/or immune system dysfunction. Patients underwent clinical exome or research exome sequencing, as solo cases or with parents using a trio design. We identified pathogenic, likely pathogenic or variants of unknown significance in genes related to the patients´ phenotypes in 47 (45.6%) of them. Half were de novo informative variants, and half of the identified variants have not been previously reported in public databases. DECIPHERD ended the diagnostic odyssey for many participants. This hybrid strategy may be useful for settings of similarly limited genomic resources and lead to discoveries in understudied populations.

Response to: myositis after SARS-CoV-2 vaccination occurs more frequently than assumed and is probably causally related.

We thank Finsterer et al. for the attention paid to our publication; we recognize the validity of the points mentioned in their letter to the editor and will try to answer the observations made.

Condiciones de trabajo de los profesionales de enfermería en un hospital de segundo nivel en la Ciudad de México / Working conditions of nursing professionals in a second level hospital in Mexico City

Introducción: La visibilización de las condiciones de trabajo de los profesionales de enfermería en México resulta necesaria para mejorar algunos aspectos. Objetivo: Analizar las condiciones de trabajo de los profesionales de enfermería en un hospital de segundo nivel en la Ciudad de México. Material y métodos: Estudio de carácter cuantitativo, no experimental, transversal, prolectivo, descriptivo y diagnóstico. La variable medida fueron las condiciones laborales de enfermería. El universo fue de 530 profesionales de enfermería y la muestra de 200. Resultados: En cuanto a las "condiciones intralaborales", 56.50% del personal sí cuentan con los recursos e insumos necesarios para trabajar, y 57.50% afirman que el sueldo es relativamente bueno; sobre las "condiciones extralaborales", 56% manifiestan tener una buena calidad de vida. Lo que más disgusta al personal es en un 27% el ambiente de trabajo, en un 18% las injusticias y en un 15% la falta de personal. Discusión: 82% del personal de enfermería mostró desgate físico y mental en el trabajo, lo que es semejante al 80% de los profesionales de enfermería en Colombia que tienen una sobrecarga laboral que afecta su calidad de vida. Conclusiones: Los profesionales de enfermería tienen condiciones laborales de buenas a excelentes. Sin embargo, es necesario atender la sobrecarga de trabajo y el agotamiento físico y mental con diversas estrategias, como contratar más personal para mejorar el cuidado de los pacientes.

Introduction: Making the working conditions of nursing professionals in Mexico more visible is necessary to improve some aspects. Objetive: To analyze the Working Conditions in Nursing professionals in a second level Hospital, in Mexico City. Material and Methods: Quantitative, non-experimental, cross-sectional, prolective, descriptive and diagnostic study. The variable measured was nursing working conditions. The universe was 530 nursing professionals and the sample was 200. Results: Regarding "intra-work conditions", 56.50% of the personnel do have the necessary resources and supplies to work, and 57.50% state that the salary is relatively good; regarding "extra-labor conditions", 56% state that they have a good quality of life. The most disliked aspects are the working environment (27%), injustices (18%), and lack of personnel (15%). Discussion: 82% of the nursing staff showed physical and mental stress at work, which is similar to the 80% of nursing professionals in Colombia who have a work overload that affects their quality of life. Conclusions: Nursing professionals have good to excellent working conditions. However, work overload and physical and mental exhaustion need to be addressed with various strategies, such as hiring more staff to improve patient care.

Comparison of the use of blood pressure telemonitoring versus standard medical care in the achievement of short-term therapeutic goals in blood pressure in patients with uncontrolled hypertension: An open-label clinical trial.

Background: In Mexico less than half of the treated hypertensive patients reach blood pressure (BP) targets. Most hypertensive individuals rely on the standard medical care (SMC) to achieve the BP control goals; however, the efficacy of BP telemonitoring (BPT) to achieve BP targets has been poorly studied. Aim: To compare the efficacy of BPT versus SMC to achieve BP goals in patients with uncontrolled hypertension. Methods: A two-arm, open-label clinical trial was conducted in patients ≥18 years with uncontrolled hypertension. The participants were randomized to 2 arms (BPT vs SMC) and followed for 12 weeks. For the statistical analysis, the chi-squared test and covariance were used. Results: One hundred and seventy-eight participants were included, BPT (n = 94) and SMC (n = 84), after 12 weeks of follow up, we observed a baseline-adjusted reduction in systolic BP with both BPT (-13.5 [1.3] mmHg) and the SMC (-5.9 [1.4] mmHg; p < 0.001) but a greater decrease with BPT (p < 0.001). Likewise, we found a baseline-adjusted reduction of diastolic BP with BPT (-6.9 [0.9] mmHg) and SMC (-2.7 [0.9] mmHg) (p = 0.007) with a more significant percentage change from baseline with BPT (-6.8% [1.0] vs 2.5% [1.1]; p = 0.007). In the BPT arm, a larger proportion of patients achieved the BP target versus SMC (30.5% vs 12.8%; p = 0.005). Conclusion: BPT showed a greater proportion of patients achieving office BP control goals (<140/90 mmHg), compared to standard medical care.

Idiopathic inflammatory myopathies linked to vaccination against SARS-CoV-2: a systematic review.

The COVID-19 pandemic represents a global health problem, which has been mitigated by the opportune introduction of vaccination programs. Although we already know the benefit that vaccines provide, these are not exempt from adverse events which can be mild to deadly, such as idiopathic inflammatory myopathies, in which a temporal association has not been defined. It is for this reason that we carried out a systematic review of all reported cases of vaccination against COVID-19 and myositis. To identify previously reported cases of idiopathic inflammatory myopathies associated with vaccination against SARS-CoV-2 we registered this protocol on the website of PROSPERO with identification number CRD42022355551. Of the 63 publications identified in MEDLINE and 117 in Scopus, 21 studies were included, reporting 31 cases of patients with vaccination-associated myositis. Most of these cases were women (61.3%); mean age was 52.3 years (range 19-76 years) and mean time of symptom onset post-vaccination was 6.8 days. More than half of the cases were associated with Comirnaty, 11 cases (35.5%) were classified as dermatomyositis, and 9 (29%) as amyopathic dermatomyositis. In 6 (19.3%) patients another probable trigger was identified. Case reports of inflammatory myopathies associated with vaccination have heterogeneous presentations without any specific characteristics: as a consequence, it is not possible to ensure a temporal association between vaccination and the development of inflammatory myopathies. Large epidemiological studies are required to determine the existence of a causal association.

Polyunsaturated ω3 fatty acids prevent the cardiac hypertrophy in hypertensive rats.

It has been demonstrated that supplementation with the two main omega 3 polyunsaturated fatty acids (ω3 FAs), docosahexaenoic acid (DHA), and eicosapentaenoic acid (EPA), leads to modifications in the cardiac physiology. ω3 FAs can affect the membrane's lipid composition, as well as proteins' location and/or function. The Na+/H+ exchanger (NHE1) is an integral membrane protein involved in the maintenance of intracellular pH and its hyperactivity has been associated with the development of various cardiovascular diseases such as cardiac hypertrophy. Our aim was to determine the effect of ω3 FAs on systolic blood pressure (SBP), lipid profiles, NHE1 activity, and cardiac function in spontaneously hypertensive rats (SHR) using Wistar rats (W) as normotensive control. After weaning, the rats received orally ω3 FAs (200 mg/kg body mass/day/ 4 months). We measured SBP, lipid profiles, and different echocardiography parameters, which were used to calculate cardiac hypertrophy index, systolic function, and ventricular geometry. The rats were sacrificed, and ventricular cardiomyocytes were obtained to measure NHE1 activity. While the treatment with ω3 FAs did not affect the SBP, lipid analysis of plasma revealed a significant decrease in omega-6/omega-3 ratio, correlated with a significant reduction in left ventricular mass index in SHR. The NHE1 activity was significantly higher in SHR compared with W. While in W the NHE1 activity was similar in both groups, a significant decrease in NHE1 activity was detected in SHRs supplemented with ω3 FAs, reaching values comparable with W. Altogether, these findings revealed that diet supplementation with ω3 FAs since early age prevents the development of cardiac hypertrophy in SHR, perhaps by decreasing NHE1 activity, without altering hemodynamic overload.

Satisfacción laboral de los profesionales de enfermería en un hospital de segundo nivel, en la Ciudad de México / Job satisfaction of nursing professionals in a second level hospital, in Mexico City

Objetivo: Analizar la satisfacción laboral de los profesionales de enfermería en un hospital de segundo nivel de la Ciudad de México. Marco teórico: La satisfacción laboral es un estado emocional positivo basado en la percepción subjetiva del propio trabajo, de acuerdo con la actitud frente al mismo, así como con las creencias y valores de la persona. Material y métodos: Estudio de carácter cuantitativo, no experimental, transversal, prolectivo, descriptivo y diagnóstico. La variable estudiada fue la satisfacción laboral. El universo se conformó por 530 profesionales de enfermería y la muestra por 200 de ellos. Resultados: 52.50% del personal de enfermería está satisfecho con su trabajo, 63.50% consideran que el trabajo que realizan es de mucho valor y 40% piensan que ocasionalmente carecen del tiempo necesario para realizar sus actividades. Discusión: 52.50% del personal de enfermería está satisfecho con su trabajo, lo que contrasta con la investigación de Pérez Fonseca y cols., en la cual se reporta 83.10% del personal de enfermería insatisfecho. Conclusiones: Los profesionales de enfermería del hospital de segundo nivel están satisfechos con el trabajo que realizan. Sin embargo, conviene monitorear de forma continua las áreas que causan insatisfacción para corregirlas en favor del personal de enfermería y de los pacientes

Objective: To analyze job satisfaction in nursing professionals at a second level hospital in Mexico City. Theoretical Framework: Job satisfaction is a positive emotional state based on the subjective perception of one's own work, according to the attitude toward it, as well as the person's beliefs and values. Material and methods: Quantitative, experimental, transversal, prolective, descriptive and diagnostic study. The variable was job satisfaction. The universe was confirmed by 530 nursing professionals, and the sample by 200 nursing professionals. Results: 52.50% of the nursing staff were satisfied with their work, 63.50% considered that the work they do is of great value, and 40% believed that occasionally they lack the necessary time to carry out their activities. Discussion: 52.50% of the nursing staff were satisfied with their work, which differs from the research by Pérez Ma. y Cols. that report 83.10% of dissatisfied staff. Conclusions: Nursing professionals at a second level hospital were satisfied with the work they do. However, it would be advisable to continuously monitor the areas that cause dissatisfaction in order to improve them in favor of the nursing staff and patient.

Alteraciones metabólicas y circadianas en personal de enfermería de un hospital público del noroeste de México / Circadian and metabolic alterations among nursing personnel in a northeastern public hospital in Mexico / Alterações metabólicas e circadianas na equipe de enfermagem de um hospital público no noroeste do México

RESUMEN Introducción Las alteraciones metabólicas se vinculan a los ritmos biológicos, dado que es tos sistemas controlan aspectos fisiológicos como patrones de sueño/vigilia, temperatura corporal, presión arterial y liberación de hormonas endocrinas. Objetivo Identificar la relación entre los componentes del síndrome metabólico y disincro nía circadiana en personal de enfermería de un hospital público. Métodos Estudio correlacional. Muestra censal de 30 profesionales de enfermería de dos turnos. Para la recolección de datos se utilizaron tres cédulas: a) antecedentes biosociode mográficos y laborales; b) síndrome metabólico; c) ciclo circadiano. En el procesamiento de datos se utilizó pruebas Chi-cuadrada, R de Pearson y Rho de Spearman, se verificó el su puesto de normalidad con Shapiro-Wilk. Se contó con autorización del Comité de Ética de la institución de salud y con el consentimiento informado de participantes. Resultados 43.3 % del personal de enfermería cumplió con criterios diagnósticos de síndro me metabólico, 100 % del turno nocturno presentó disincronía circadiana con base en el indicador patrón de sueño. El consumo de alcohol y nivel alto de triglicéridos, mostraron relación positiva estadísticamente significativa con la presencia de insomnio (p ≤ 0.001; p ≤ 0.05). Conclusión El síndrome metabólico es un problema de salud con alta prevalencia entre el personal de enfermería, independientemente del nivel académico o del turno laboral. El peso y los triglicéridos fueron indicadores que mostraron relación con patrones de sueño afectados. Esto enfatiza la importancia de incidir en la prevención y tratamiento del sín drome metabólico como una prioridad en el personal de enfermería, desde la salud laboral.

ABSTRACT Introduction Metabolic alterations are linked to biologic rhythms because these cycles control physiologic patterns including sleep/awake, body temperature, blood pressure, and hormones release. Objective To identify the relationship between the metabolic syndrome components and the circadian alterations among nursing personnel in a public hospital in Mexico. Method This is a correlational study. The sample was constituted of 30 nursing professio nals working in 2 shifts. Data were collected using three registers: a) bio socio-demographic and labor-related backgrounds; b) metabolic syndrome; c) circadian cycle. Chi-square, Pearson's R, Spearman's Rho, and Shapiro-Wilk normality test were calculated. The study approval was granted by the Ethics Committee of the Health Institution. The corresponding informed consent was obtained from all participants. Results 43.3 % of the nursing personnel qualified for the metabolic syndrome diagnostic criteria. 100 % of the nurses working the night shift showed circadian alterations in terms of sleep patterns. Alcohol consumption and high levels of triglycerides were positively and significantly related to insomnia (p ≤ 0.001; p ≤ 0.05). Conclusion The metabolic syndrome is a health problem with a high prevalence in all kinds of nursing personnel. Bodyweight and triglyceride levels were indicators suggesting altered sleep patterns. This situation highlights the importance of designing and implementing strategies aimed at preventing and addressing metabolic syndrome among nursing person nel as a labor health priority.

RESUMO Introdução As alterações metabólicas estão ligadas aos ritmos biológicos, pois esses siste mas controlam aspectos fisiológicos como padrões de sono/vigília, temperatura corporal, pressão arterial e liberação de hormônios endócrinos. Objetivo Identificar a relação entre os componentes da síndrome metabólica e a dissincro nia circadiana na equipe de enfermagem de um hospital público. Métodos Estudo correlacional. Amostra censitária de 30 profissionais de enfermagem com dois turnos. Para a coleta de dados foram utilizados três cartões: a) antecedentes biossociodemográficos e laborais; b) síndrome metabólica; c) ciclo circadiano. No processa mento dos dados foram utilizados os testes Qui-quadrado, R de Pearson e Rho de Spearman, a suposição de normalidade foi verificada com Shapiro-Wilk. Contou-se com a autorização do Comitê de Ética da instituição de saúde e o termo de consentimento informado dos participantes. Resultados 43.3 % da equipe de enfermagem atendeu aos critérios diagnósticos para sín drome metabólica, 100 % do plantão noturno apresentou dissincronia circadiana com base no indicador padrão de sono. O consumo de álcool e o nível elevado de triglicerídeos mos traram relação positiva estatisticamente significativa com a presença de insônia (p ≤ 0.001; p ≤ 0.05). Conclusão A síndrome metabólica é um problema de saúde de alta prevalência entre a equipe de enfermagem, independentemente do nível acadêmico ou turno de trabalho. O peso e os triglicerídeos foram indicadores que mostraram relação com os padrões de sono afetados. Isto ressalta a importância de influenciar a prevenção e o tratamento da síndrome metabólica como prioridade na equipe de enfermagem, desde a saúde do trabalhador.

Effect of protein during hydrothermal carbonization of brewer's spent grain.

This study has two targets: Studying the extraction of the initial protein content from brewer's spent grain and the impact of protein's extraction on the chemical-physical properties of produced hydrochars. The protein was extracted from brewer's spent grains using the pH-shifting method. The extracted protein was quantified and characterized by their amino acid profile. The hydrothermal treatment was applied at 190 °C and 220 °C for 0.5 h, 1 h, 2 h, and 4 h. The hydrochars and process water were collected and assayed. The hydrochar after protein extraction reveals the lowest yield to hydrochars (67.10-45.14%), higher C/N ratio (19.66-21.33) and lower ash content (1.52-1.72 wt%) compared to the hydrochar without extraction.

[GLUT-1 deficiency syndrome]. / Sindrome de deficiencia de GLUT-1.

TITLE: Sindrome de deficiencia de GLUT-1.

Factores relacionados con la seguridad y la calidad en la atención del paciente pediátrico hospitalizado / Factors related to safety and quality of attention in hospitalized pediatric patients / Fatores relacionados à segurança e qualidade no atendimento pediátrico hospitalizado

Introducción: La atención proporcionada a los usuarios de los sistemas de salud puede derivar con relativa frecuencia en un evento adverso (EA), debido a factores intrínsecos, extrínsecos o del sistema. Objetivo: Analizar los factores relacionados con la calidad y la seguridad de los pacientes pediátricos hospitalizados, a través de los reportes de eventos adversos. Métodos: Estudio derivado de un proyecto multicéntrico, transversal, prospectivo. Unidad de observación: todos los eventos adversos reportados en niños hospitalizados de 0 a 18 años, en un Instituto Nacional de Salud de la Ciudad de México, de junio de 2014 a julio de 2015. Se utilizó el instrumento SYREC para el reporte. Análisis estadístico descriptivo y comparación de variables mediante Chi cuadrada y prueba exacta de Fisher. Resultados: Se registraron 173 eventos adversos, 55% fueron del sexo masculino, mayor ocurrencia < 1 año (43%), áreas críticas 60%. Principales eventos: extubaciones no programadas (16%), UPP (14%), flebitis (10%), lesiones (9%), quemaduras (8%) y medicamentos (6%). Los factores del sistema se presentaron en 39% (distracción, sobrecarga, falta de comunicación, falta de habilidad, supervisión). Factores extrínsecos 35% (acceso a la monitorización, manejo terapéutico). Factores intrínsecos 26% (condición clínica del paciente). Conclusiones: La calidad y seguridad en la atención del paciente, se ve mermada principalmente por factores del sistema, esto debido a la amplia gama de funciones que debe realizar el profesional de enfermería, lo que conlleva a distracciones que diluyen el perfil de su rol y se apartan del objetivo principal que es el cuidado.

Introduction: The attention provided to users of health systems can often end up in adverse events (AE) due to intrinsic or extrinsic system factors. Objective To analyze factors related to safety and quality of attention in hospitalized pediatric patients using an adverse-events reporting system. Method: This is a study derived from a multicentric, transversal, and prospective project. Observation unit: All reported adverse events on hospitalized children aged 0 - 18 at the National Institute of Health of the City of Mexico, from June 2014 to July 2015. The SYREC instrument was used for the report. A statistic descriptive analysis and variable comparison through Chi squared and Fisher exact test was performed. Results: 173 adverse events were registered, 55% of these on males, higher occurrence < 1 year (43%), in critical areas 60%. The main events were: un programmed intubation (16%), UPP (14%), phlebitis (10%), lesions (9%), burns (8%), medication-related (6%). System factors (39%) were related to distraction, overload, lack of communication, lack of ability, supervision. Extrinsic factors (35%) were related to monitoring, therapeutic handling. Intrinsic factors (26%) were related to the clinic condition of the patient. Conclusions: Safety and quality of attention to hospitalized pediatric patients is often affected by diverse system factors, thus, nursing professionals should be aware of potential impacts to address them correspondingly.

Introdução: A atenção dispensada aos usuários dos sistemas de saúde pode derivar com relativa frequência em um evento adverso (DA), devido a fatores intrínsecos, extrínsecos ou sistêmicos. Objetivo: Analisar os fatores relacionados à qualidade e segurança de pacientes pediátricos hospitalizados, através dos relatos de eventos adversos. Métodos: Estudo derivado de um projeto prospectivo, multicêntrico, transversal. Unidade de observação: todos os eventos adversos relatados em crianças hospitalizadas de 0 a 18 anos, em um Instituto Nacional de Saúde da Cidade do México, de junho de 2014 a julho de 2015. O instrumento SYREC foi usado para o relatório. Análise estatística descritiva e comparação de variáveis utilizando teste do qui-quadrado e teste exato de Fisher. Resultados: Foram registrados 173 eventos adversos, sendo 55% do sexo masculino, maior ocorrência < 1 ano (43%), áreas críticas 60%. Principais eventos: extubações não programadas (16%), UPP (14%), flebite (10%), lesões (9%), queimaduras (8%) e medicamentos (6%). Fatores do sistema foram apresentados em 39% (distração, sobrecarga, falta de comunicação, falta de habilidade, supervisão). Fatores extrínsecos 35% (acesso ao monitoramento, manejo terapêutico). Fatores intrínsecos 26% (condição clínica do paciente). Conclusões A qualidade e segurança da assistência ao paciente é principalmente afetada por fatores do sistema, devido à ampla gama de funções que o profissional de enfermagem deve realizar, o que leva a distrações que diluem o perfil de seu papel e eles partem do objetivo principal do cuidado.

Methane correction factors for estimating emissions from aerobic wastewater treatment facilities based on field data in Mexico and on literature review.

Wastewater treatment (WWT) may be an important source of methane (CH4), a greenhouse gas with significant global warming potential. Sources of CH4 emissions from WWT facilities can be found in the water and in the sludge process lines. Among the methodologies for estimating CH4 emissions inventories from WWT, the more adopted are the guidelines of the Intergovernmental Panel on Climate Change (IPCC), which recommends default emission factors (Tier 1) depending on WWT systems. Recent published results show that well managed treatment facilities may emit CH4, due to dissolved CH4 in the influent wastewater; in addition, biological nutrient removal also will produce this gas in the anaerobic (or anoxic) steps. However, none of these elements is considered in the current IPCC guidelines. The aim of this work is to propose modified (and new) methane correction factors (MCF) regarding the current Tier 1 IPCC guidelines for CH4 emissions from aerobic treatment systems, with and without anaerobic sludge digesters, focusing on intertropical countries. The modifications are supported on in situ assessment of fugitive CH4 emissions in two facilities in Mexico and on relevant literature data. In the case of well-managed centralized aerobic treatment plant, a MCF of 0.06 (instead of the current 0.0) is proposed, considering that the assumption of a CH4-neutral treatment facility, as established in the IPCC methodology, is not supported. Similarly, a MCF of 0.08 is proposed for biological nutrient removal processes, being a new entry in the guidelines. Finally, a one-step straightforward calculation is proposed for centralized aerobic treatment plants with anaerobic digesters that avoids confusion when selecting the appropriate default MCF based on the Tier 1 IPCC guidelines.

Anxiety can significantly explain bolus perception in the context of hypotensive esophageal motility: Results of a large multicenter study in asymptomatic individuals.

BACKGROUND: Previous studies have not been able to correlate manometry findings with bolus perception. The aim of this study was to evaluate correlation of different variables, including traditional manometric variables (at diagnostic and extreme thresholds), esophageal shortening, bolus transit, automated impedance manometry (AIM) metrics and mood with bolus passage perception in a large cohort of asymptomatic individuals. METHODS: High resolution manometry (HRM) was performed in healthy individuals from nine centers. Perception was evaluated using a 5-point Likert scale. Anxiety was evaluated using Hospitalized Anxiety and Depression scale (HAD). Subgroup analysis was also performed classifying studies into normal, hypotensive, vigorous, and obstructive patterns. KEY RESULTS: One hundred fifteen studies were analyzed (69 using HRM and 46 using high resolution impedance manometry (HRIM); 3.5% swallows in 9.6% of volunteers were perceived. There was no correlation of any of the traditional HRM variables, esophageal shortening, AIM metrics nor bolus transit with perception scores. There was no HRM variable showing difference in perception when comparing normal vs extreme values (percentile 1 or 99). Anxiety but not depression was correlated with perception. Among hypotensive pattern, anxiety was a strong predictor of variance in perception (R2 up to .70). CONCLUSION AND INFERENCES: Bolus perception is less common than abnormal motility among healthy individuals. Neither esophageal motor function nor bolus dynamics evaluated with several techniques seems to explain differences in bolus perception. Different mechanisms seem to be relevant in different manometric patterns. Anxiety is a significant predictor of bolus perception in the context of hypotensive motility.

The Chicago Classification 3.0 Results in More Normal Findings and Fewer Hypotensive Findings With No Difference in Other Diagnoses.

OBJECTIVES: High-resolution manometry (HRM) is the preferred method for the evaluation of motility disorders. Recently, an update of the diagnostic criteria (Chicago 3.0) has been published. The aim of this study was to compare the performance criteria of Chicago version 2.0 (CC2.0) vs. 3.0 (CC3.0) in a cohort of healthy volunteers and symptomatic patients. METHODS: HRM studies of asymptomatic and symptomatic individuals from several centers of Spain and Latin America were analyzed using both CC2.0 and CC3.0. The final diagnosis was grouped into hierarchical categories: obstruction (achalasia and gastro-esophageal junction obstruction), major disorders (distal esophageal spasm, absent peristalsis, and jackhammer), minor disorders (failed frequent peristalsis, weak peristalsis with small or large defects, ineffective esophageal motility, fragmented peristalsis, rapid contractile with normal latency and hypertensive peristalsis) and normal. The results were compared using McNemar's and Kappa tests. RESULTS: HRM was analyzed in 107 healthy volunteers (53.3% female; 18-69 years) and 400 symptomatic patients (58.5% female; 18-90 years). In healthy volunteers, using CC2.0 and CC3.0, obstructive disorders were diagnosed in 7.5% and 5.6%, respectively, major disorders in 1% and 2.8%, respectively, minor disorders in 25.2% and 15%, respectively, and normal in 66.4% and 76.6%, respectively. In symptomatic individuals, using CC2.0 and CC3.0, obstructive disorders were diagnosed in 11% and 11.3%, respectively, major disorders in 14% and 14%, respectively, minor disorders in 33.3% and 24.5%, respectively, and normal in 41.8% and 50.3%, respectively. In both groups of individuals, only an increase in normal and a decrease in minor findings using CC3.0 were statistically significant using McNemar's test. DISCUSSIONS: CC3.0 increases the number of normal studies when compared with CC2.0, essentially at the expense of fewer minor disorders, with no significant differences in major or obstructive disorders. As the relevance of minor disorders is questionable, our data suggest that CC3.0 increases the relevance of abnormal results.

Normal values of esophageal pressure responses to a rapid drink challenge test in healthy subjects: results of a multicenter study.

BACKGROUND: Multiple water swallow is increasingly used as a complementary challenge test in patients undergoing high-resolution manometry (HRM). Our aim was to establish the range of normal pressure responses during the rapid drink challenge test in a large population of healthy subjects. METHODS: Pressure responses to a rapid drink challenge test (100 or 200 mL of water) were prospectively analyzed in 105 healthy subjects studied in nine different hospitals from different countries. Esophageal motility was assessed in all subjects by solid-state HRM. In 18 subjects, bolus transit was analyzed using concomitant intraluminal impedance monitoring. KEY RESULTS: A virtually complete inhibition of pressure activity was observed during multiple swallow: Esophageal body pressure was above 20 mm Hg during 1 (0-8) % and above 30 mm Hg during 1 (0-5) % of the swallow period, and the pressure gradient across the esophagogastric junction was low (-1 (-7 to 4) mm Hg). At the end of multiple swallow, a postswallow contraction was evidenced in only 50% of subjects, whereas the remaining 50% had non-transmitted contractions. Bolus clearance was completed after 7 (1-30) s after the last swallow, as evidenced by multichannel intraluminal impedance. CONCLUSIONS & INFERENCES: The range of normal pressure responses to a rapid drink challenge test in health has been established in a large multicenter study. Main responses are a virtually complete inhibition of esophageal pressures with a low-pressure gradient across esophagogastric junction. This data would allow the correct differentiation between normal and disease when using this test.

[Functional comparison in the treatment of Weber type B ankle fractures with suture device versus screw]. / Comparación funcional en el tratamiento de las fracturas de tobillo B de Weber con implante y sutura versus tornillo situacional.

BACKGROUND: Ten percent of all ankle fractures, 20% of the fractures treated surgically, and 1-18% of all sprains involve a syndesmosis injury. The methods used for reduction are metal or bioabsorbable syndesmotic set screws, direct repair, and sutures with or without buttons. The purpose of this study was to compare the clinical function of patients who sustained Weber B ankle fractures and were treated with the TightRope system or a syndesmotic set screw. MATERIAL AND METHODS: An observational, comparative, cross-sectional study was conducted between March 2012 and March 2015. The AOFAS ankle scale was used to assess function in patients with Weber B fractures with a syndesmosis injury treated with a 3.5 mm tricortical set screw or with the TightRope system. RESULTS: Forty-three patients were included, their mean age was 47 years. The single-factor ANOVA test was used to compare the results of both groups. The latter showed that at 3, 6 and 12 months the TightRope group showed a significant improvement based on the AOFAS score, compared with the set screw group (p = 0.05). DISCUSSION: The use of the TightRope system results in better clinical function in the short term compared with the 3.5 mm tricortical set screw, according to the AOFAS scale.

ANTECEDENTES: Diez por ciento de todas las fracturas de tobillo, 20% de las fracturas tratadas quirúrgicamente y de 1 al 18% de los esguinces presentan lesión de la sindesmosis. Los métodos utilizados para su reducción son tornillos situacionales metálicos o bioabsorbibles, reparación directa y el uso de suturas con o sin botones. El objetivo de este trabajo fue comparar la función clínica de las fracturas de tobillo B de Weber tratadas con TightRope o con el uso de tornillo situacional. MATERIAL Y MÉTODOS: Se realizó un estudio observacional, comparativo, transversal en el período comprendido de Marzo del 2012 a Marzo del 2015. Se utilizó la escala de AOFAS de tobillo para valorar la función de pacientes con fracturas Weber B con lesión de sindesmosis tratados con tornillo situacional tricortical de 3.5 mm y pacientes tratados con sistema TightRope. RESULTADOS: Se estudiaron 43 pacientes con una media de 47 años de edad. Se realizó la prueba de ANOVA de un factor para comparar los resultados de ambos grupos observando que a los tres, seis y 12 meses el grupo de TightRope presentó una mejoría significativa en cuanto al puntaje de AOFAS en comparación con el grupo de tornillo situacional (p = 0.05). DISCUSIÓN: El uso del sistema TightRope presenta mejor función clínica en comparación con el tornillo situacional tricortical de 3.5 mm en el corto plazo, de acuerdo con la escala de AOFAS.

[Psychological evaluation in patients treated with external fixator]. / Evaluación sicológica en pacientes tratados con fijador externo.

OBJECTIVE: To establish whether complications in treatment, readmissions and reinterventions are related to psychological disturbances. To determine if the type, age and time of use are related to psychological aspects. MATERIAL AND METHODS: Retrospective, observational and transversal study in patients treated with external fixator in the period from 2005 to 2010. We used clinical records, 2 statistical tests and Students t-test with the IBM SPSS Statistics program, version 24. RESULTS: Circular fixator: we observed a significant p of 0.024 in the relations between age and psychological alterations. Regarding the complications and the psychological alterations, we obtained a significant p 0.048. Monoplanar fixator: the difference was significant of 0.038 on the relation between readmissions and psychological alterations. DISCUSSION: There are psychological disturbances in patients and families that may interfere with the treatment and complications. The literature showed that if there are alterations in the initial questionnaire, they will remain equal and generate increased aggressiveness; if there were no initial alterations, there will be no changes. We observed less psychological effects in older patients (13-16 years) and greater anxiety in patients in the medium range (10-12 years), as well as in patients with residual deformities. CONCLUSIONS: The psychological intervention is important in the pre-, trans- and postsurgical time. Patients of medium age, which corresponds to preteens, presented more psychological disturbances; therefore, it is recommended to avoid the use of external fixators in this age range.

OBJETIVOS: Establecer si las complicaciones en el tratamiento, reingresos y reintervenciones están relacionadas con alteraciones sicológicas. Determinar si el tipo, la edad y el tiempo de uso se relacionan con los aspectos sicológicos. MATERIAL Y MÉTODOS: Estudio retrospectivo, observacional y transversal en pacientes tratados con fijador externo en el período comprendido de 2005 a 2010. Se utilizaron expedientes clínicos, pruebas estadísticas 2 y t de Student con el programa IBM SPSS Statistics versión 24. RESULTADOS: Fijador circular: se observó una p significativa de 0.024 en la relación entre la edad y las alteraciones sicológicas. En cuanto a las complicaciones en relación con las alteraciones sicológicas, se obtuvo una p significativa de 0.048. Fijador monoplanar: la p fue significativa de 0.038 en la relación de reingresos y las alteraciones sicológicas. DISCUSIÓN: Hay alteraciones sicológicas en los pacientes y familiares que pueden interferir con el apego y las complicaciones. En la literatura se observó que si en el cuestionario inicial hay alteraciones, éstas continuarán igual y generarán mayor agresividad; si no hubo alteraciones iniciales, no habrá cambios. Se identificaron menos efectos sicológicos en pacientes de mayor edad (13-16 años) y mayor ansiedad en pacientes del grupo medio (10-12 años), así como en aquéllos con deformidades residuales. CONCLUSIONES: Es importante la intervención de sicología pre-, trans- y postquirúrgica. Los pacientes de edad media, lo cual corresponde a preadolescencia, presentarán más alteraciones sicológicas, por lo que se recomienda evitar el uso de fijadores en este rango de edad.

Análisis de los factores relacionados a la presencia de eventos adversos, en Unidades Pediátricas de Cuidados Intensivos / Analysis of the factors related to the presence of adverse events in pediatric intensive care units", "_e": "n

Introducción: la presencia de un evento adverso durante el proceso de hospitalización aumenta la morbimortalidad, se generan mayores tiempos de estancia hospitalaria, costos y deterioro de la calidad de atención. Objetivo: conocer la frecuencia de ocurrencia de los eventos adversos en las Áreas Pediátricas de Cuidados Intensivos para identificar los factores intrínsecos, extrínsecos y del sistema en un Hospital Público de Tercer Nivel de Atención. Material y métodos: estudio descriptivo, transversal y observacional, durante un año, del 2013 al 2014, se utilizó una ficha de notificación de eventos adversos tomada y adaptada del Proyecto de Incidentes y Eventos Adversos en Medicina Intensiva, Seguridad y Riesgo del Enfermo Crítico (SYREC 2007). Resultados: en total se presentaron 105 eventos adversos, 71% en la Unidad de Terapia Intensiva Pediátrica, 18% en la Unidad de Cuidados Intensivos Neonatales y 11% en la Unidad de Cuidados Intensivos Cardiovasculares, 62% de los pacientes presentaron durante su proceso de hospitalización un evento adverso, el 30% presentó dos eventos adversos y el 8% más de tres. Más frecuente en el sexo masculino en un 50.5% y en las alteraciones cardiovasculares en un 22%. El 30% de los eventos adversos ocurrió dentro de las primeras 48 horas de ingreso a la unidad. Conclusiones: el conocer este tipo de accidentes permite implantar estrategias para disminuir o controlar las posibles causas. Para el profesional de enfermería es de suma importancia identificar estos detonantes para participar de forma activa en los programas de seguridad y calidad de atención.

Introduction: the presence of an adverse event during the process of hospitalization increases morbidity and mortality, longer hospital stay times, costs and deterioration of the quality of care arise. Objective: to know the frequency of occurrence of the adverse event in pediatric intensive care to identify the intrinsic, extrinsic factors and areas of the system in a public tertiary care hospital. Material and methods: descriptive, transversal and observational study, for a year from 2013 to 2014, we used an information notice of adverse event taken and adapted from the project of incidents and adverse events in intensive medicine, safety and risk of the sick critic (SYREC 2007). Results: in total were 105 adverse event, 71% in unit therapy intensive Pediatric, 18% in neonatal intensive care unit and 11% at the unit of cardiovascular intensive care, 62% of the patients presented during their hospitalization an adverse event, 30% presented two adverse event and 8% more than three. More common in males in 50.5% and 22% cardiovascular alterations. 30% of the adverse event occurred within the first 48 hours entering the unit. Conclusions: know this type of accidents allows to implement strategies to decrease or control the possible causes. For nursing professional it is important to identify these triggers to participate actively in the programs of safety and quality of care.