TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Congenital hydrocephalus (CH), characterized by cerebral ventriculomegaly, is one of the most common reasons for pediatric brain surgery. Recent studies have implicated lin-41 (lineage variant 41)/TRIM71 (tripartite motif 71) as a candidate CH risk gene, however, TRIM71 variants have not been systematically examined in a large patient cohort or conclusively linked with an OMIM syndrome. Through cross-sectional analysis of the largest assembled cohort of patients with cerebral ventriculomegaly, including neurosurgically-treated CH (totaling 2,697 parent-proband trios and 8,091 total exomes), we identified 13 protein-altering de novo variants (DNVs) in TRIM71 in unrelated children exhibiting variable ventriculomegaly, CH, developmental delay, dysmorphic features, and other structural brain defects including corpus callosum dysgenesis and white matter hypoplasia. Eight unrelated patients were found to harbor arginine variants, including two recurrent missense DNVs, at homologous positions in RPXGV motifs of different NHL domains. Seven additional patients with rare, damaging, unphased or transmitted variants of uncertain significance were also identified. NHL-domain variants of TRIM71 exhibited impaired binding to the canonical TRIM71 target CDKN1A; other variants failed to direct the subcellular localization of TRIM71 to processing bodies. Single-cell transcriptomic analysis of human embryos revealed expression of TRIM71 in early first-trimester neural stem cells of the brain. These data show TRIM71 is essential for human brain morphogenesis and that TRIM71 mutations cause a novel neurodevelopmental syndrome featuring ventriculomegaly and CH.

Association of Stair Use With Risk of Major Chronic Diseases.

INTRODUCTION: Physical inactivity is associated with a higher risk of chronic diseases. Regular stair use can contribute to increasing physical activity in the population. This study aimed to investigate the association between flights of stairs used daily at home and all-cause mortality and cause-specific incidence and mortality. METHODS: Of the 502,628 UK Biobank participants recruited between 2007 and 2010, 442,027 (mean age, 56±8 years) had available data and were included in the analyses conducted in 2023. Participants were categorized on the basis of flights of stairs climbed daily (1-5, 6-10, 11-15, >15). The disease-specific outcomes were cardiovascular disease, respiratory disease, cancer, type 2 diabetes, and all-cause dementia. Cox proportional hazard models, adjusted for sociodemographic, lifestyle, and health-related confounding factors, were used to analyze the associations between stair use frequency and health outcomes. RESULTS: Participants were followed up for a median of 10.9 years. Climbing stairs >15 times per day was associated with a lower risk of 8 of the 9 outcomes analyzed than not using stairs. The magnitude of association ranged from 3% (95% CI=0.94, 0.99) lower risk for all-cause cancer to 51% (95% CI=0.39, 0.60) lower risk of chronic obstructive pulmonary disease. Findings were similar for mortality outcomes, with the hazard ratios ranging from 0.82 (95% CI=0.77, 0.87) for all-cause cancer to 0.46 (95% CI=0.23, 0.92) for chronic obstructive pulmonary disease mortality. CONCLUSIONS: Stair use was associated with a lower risk of all-cause mortality and cause-specific incidence and mortality independent of confounding factors, including adiposity and multimorbidity.

Mortalidad a 30 días en neumonías adquiridas en la comunidad graves por SARS-COV-2 y otros virus respiratorios en Chile / Risk of mortality of severe SARS-CoV-2 infection and other causes of viral pneumonia in Chile

INTRODUCCIÓN: En Chile, los virus respiratorios son una causa frecuente de neumonía adquirida en la comunidad (NAC), con admisión a unidades de paciente crítico en adultos. Los agentes etiológicos asociados son influenza A y B, virus respiratorio sincicial (VRS) y Hantavirus, sumándose el SARS-CoV-2 desde 2020. OBJETIVO: Identificar variables clínicas y de laboratorio asociadas a mortalidad a 30 días en NAC virales graves en un centro del sur de Chile. Metodología: Estudio observacional, se agruparon dos cohortes de pacientes con NAC grave según criterio IDSA/ATS (años 2013-2018, "No COVID-19") y año 2020 ("COVID-19"). Se recolectaron datos sociodemográficos, clínica, laboratorio y mortalidad a 30 días. Se utilizaron pruebas de Chi-cuadrado y Prueba t- student, para variables categóricas y continuas respectivamente. La mortalidad se evaluó mediante regresión logística binaria, con resultados reportados como Odd ratios (ORs). RESULTADOS: La mortalidad a 30 días fue: Hanta virus 54.5%, H1N1 36,8%, 30,4% otras influenza, 25% VRS y 23,6% para COVID-19. Sin diferencia significativa entre el tipo de virus (COVID-19 o NO COVID-19). La mortalidad se asoció con edad > 65 años (OR: 4,6; p 65 años, inmunosupresión, cianosis y uremia al ingreso se asociaron con mayor mortalidad a 30 días en los ingresos por NAC viral grave.

INTRODUCTION: Severe community-acquired pneumonia (CAP) due to respiratory viruses is highly prevalent in Chile. Common etiologies include Influenza A and B, respiratory syncytial virus (RSV), Hantavirus, and SARS-CoV-2 since 2020. OBJECTIVE: To identify clinical and laboratory features associated with 20-day mortality in severe viral CAP in a high complexity health care center in southern Chile. METHODS: The observational study included two cohorts of patients with severe CAP according to IDSA/ATS criteria: the years 2013-2018 (No COVID-19) and the year 2020 (COVID-19). Sociodemographic, clinical, laboratory, and 30-day mortality data were collected. We used Chi-square and Student's T for categorical and continuous variables. We used a binary logistic regression model for mortality analysis, reporting the results as Odd ratios (ORs). RESULTS: Mortality at 30 days was: Hantavirus 54.4%, Influenza H1N1 36.8%, other influenza 30.4%, RSV 25%, and COVID-19 23.6%. We found no significant difference regarding type of virus (COVID-19 or NO COVID-19). Mortality was associated with older age (OR: 4.6; p-value < 0.01), immunosuppression (OR: 5.8; p-value 0.01), and cyanosis (OR: 3.8, p-value 0.02). Conclusion: COVID-19 was not associated with an increased risk of 30-day mortality compared to other common respiratory viruses in our study. Older age, immunosuppression, and cyanosis were associated with higher risk among patients with severe viral CAP.

Relación entre características antropométricas, autopercepción del índice de masa corporal, condición física y hábitos alimentarios en estudiantes universitarios de salud y educación

Introducción: La etapa universitaria es un período de modificación en los estilos de vida. Los estudiantes de carreras de pedagogía y de la salud, adicionalmente, asumirán un rol de guías y modelos respecto a conductas saludables hacia sus estudiantes y pacientes respectivamente. Objetivo: Evaluar la relación entre las características antropométricas, la autopercepción del índice de masa corporal (IMC), la condición física y los hábitos alimentarios en estudiantes universitarios de carreras de pedagogía y de la salud. Materiales y método: Estudio descriptivo y correlacional. La muestra fue conformada por 158 estudiantes universitarios (edad, 22,5±2,5 años). Se evaluó las características antropométricas, autopercepción del IMC, condición física y hábitos alimentarios. Resultados: El IMC se correlacionó positivamente con el IMC percibido (r= 0.46, p= 0.012). El perímetro de cintura se correlacionó positivamente con el IMC percibido y la fuerza de prensión manual. El porcentaje de grasa corporal se correlacionó positivamente con el IMC percibido y negativamente con la condición física (potencia, prensión manual y flexibilidad). El área muscular del brazo se correlacionó con el IMC percibido, puntaje de IMC percibido y condición física. Los hábitos alimentarios presentaron una correlación negativa con el IMC percibido, pero no así con las características antropométricas. Conclusión: Los estudiantes universitarios de las carreras de salud y educación con mejor características antropométricas (menor IMC, perímetro de cintura y porcentaje de grasa y mayor área muscular del brazo), presentan una autopercepción mayor del IMC y un mejor rendimiento en las pruebas de condición física.

Introduction: The university stage is a period of modification in lifestyles. Pedagogy and health career students, additionally, will assume the role of guides and models regarding healthy behaviours towards their students and patients, respectively. Objective: To evaluate the relationship between anthropometric characteristics, self-perception of body mass index (BMI), physical condition and eating habits among pedagogy and health career university students. Materials and method: Descriptive and correlational study. The sample consisted of 158 university students (age 22.5 ± 2.5 years). Anthropometric characteristics, self-perception of BMI, physical condition and eating habits were evaluated. Results: BMI was positively correlated with perceived BMI (r= 0.46, p= 0.012). Waist circumference was positively correlated with perceived BMI and handgrip strength. The percentage of body fat was positively correlated with the perceived BMI and negatively with the physical condition (power, handgrip and flexibility). Arm muscle area was correlated with perceived BMI, perceived BMI score, and physical condition. Eating habits were negatively correlated with perceived BMI but not with anthropometric characteristics. Conclusion: University students from health and education careers with better anthropometric characteristics (lower BMI, waist circumference and fat percentage, and greater muscle area of the arm), have a higher self-perception of BMI and better performance in fitness tests physical.

[Risk of mortality of severe SARS-CoV-2 infection and other causes of viral pneumonia in Chile]. / Mortalidad a 30 días en neumonías adquiridas en la comunidad graves por SARS-COV-2 y otros virus respiratorios en Chile.

INTRODUCTION: Severe community-acquired pneumonia (CAP) due to respiratory viruses is highly prevalent in Chile. Common etiologies include Influenza A and B, respiratory syncytial virus (RSV), Hantavirus, and SARS-CoV-2 since 2020. OBJECTIVE: To identify clinical and laboratory features associated with 20-day mortality in severe viral CAP in a high complexity health care center in southern Chile. METHODS: The observational study included two cohorts of patients with severe CAP according to IDSA/ATS criteria: the years 2013-2018 (No COVID-19) and the year 2020 (COVID-19). Sociodemographic, clinical, laboratory, and 30-day mortality data were collected. We used Chi-square and Student's T for categorical and continuous variables. We used a binary logistic regression model for mortality analysis, reporting the results as Odd ratios (ORs). RESULTS: Mortality at 30 days was: Hantavirus 54.4%, Influenza H1N1 36.8%, other influenza 30.4%, RSV 25%, and COVID-19 23.6%. We found no significant difference regarding type of virus (COVID-19 or NO COVID-19). Mortality was associated with older age (OR: 4.6; p-value < 0.01), immunosuppression (OR: 5.8; p-value 0.01), and cyanosis (OR: 3.8, p-value 0.02). CONCLUSION: COVID-19 was not associated with an increased risk of 30-day mortality compared to other common respiratory viruses in our study. Older age, immunosuppression, and cyanosis were associated with higher risk among patients with severe viral CAP.

Asociación entre velocidad de marcha y deterioro cognitivo en personas mayores: resultados de la Encuesta Nacional de Salud 2016-2017

Antecedentes: La velocidad de la marcha podría considerarse un marcador temprano de riesgo de deterioro cognitivo en personas mayores. Objetivo: Determinar la asociación entre velocidad de la marcha y sospecha de deterioro cognitivo en población mayor chilena. Métodos: Se incluyeron 1788 personas mayores de la Encuesta Nacional de Salud (ENS) 2016-2017 que tenían información sobre velocidad de marcha y sospecha de deterioro cognitivo. La velocidad de la marcha fue autorreportada y categorizada como marca lenta, normal y rápida. Sospecha de deterioro cognitivo fue evaluado a través del cuestionario Mini Mental abreviado. La asociación entre marcha y deterioro cognitivo fue investigada mediante análisis de regresión logística. Resultados: En comparación a las personas mayores que reportaron una velocidad de marcha rápida, aquellas que reportaron una marcha lenta presentaron 2,67 veces mayor probabilidad de tener deterioro cognitivo (OR: 2,67 [95% IC:1,62; 4,42], p<0,001). Al ajustar los modelos por variables de confusión sociodemográficas, estilos de vida y salud, la asociación disminuyó, pero, permaneció significativa (OR: 1,78 [95% IC:1,15; 3,17], p=0,047). Mientras que las personas mayores que reportaron tener una velocidad de marcha normal no presentaron asociación con deterioro cognitivo. Conclusión: Personas mayores que reportan una velocidad de marcha lenta presentaron una mayor probabilidad de sospecha de deterioro cognitivo. Considerando que el deterioro cognitivo es un síndrome geriátrico con alta prevalencia en población mayor, existe la necesidad de enfatizar en estrategias para un diagnóstico temprano, por lo cual la velocidad de marcha podría ser un instrumento útil.

Background: Walking pace could be considered an early risk marker of cognitive impairment in older people. Objective: To determine the association between walking pace and cognitive impairment in older Chilean adults. Methods: 1,788 adults older than 60 years from the 2016-2017 Chilean National Health Survey with data available in the exposure and outcome were included in this cross-sectional study. Walking pace was self-reported and categorised as slow, average and brisk. Cognitive impairment was assessed using the Abbreviated Mini-Mental questionnaire. Logistic regression analyses were performed to investigate the association between walking pace and cognitive impairment, logistic regression analyses - adjusted for sociodemographic, lifestyle and health-related covariates. Results: In the minimally adjusted model and compared to older adults who self-reported a brisk walking pace, those in the slow walking pace category were 2.67 times more likely to have cognitive impairment (OR: 2.67 [95% CI: 1.62, 4.42]). When the analyses were adjusted, the association was attenuated but remained significant (OR: 1.78 [95% CI: 1.15 3.17]). No associations were found between average pace walkers and cognitive impairment. Conclusion: Older adults who self-reported a slow walking pace having a higher likelihood of cognitive impairment than their counterparts who had a brisk walking pace. Considering that cognitive impairment is a geriatric syndrome with a high prevalence in the elderly, there is a need to emphasise strategies for an early diagnosis. Therefore, walking pace may be a useful marker to identify individuals at high risk of cognitive impairment.

Fuerza de prensión manual. Un sencillo, pero fuerte predictor de salud en población adulta y personas mayores / Handgrip strength as a predictor of adverse health outcomes

Muscle strength can be measured through different methods and handgrip strength is one of the most used techniques in epidemiological studies. Given its easy application, high reliability, and low cost, it is considered an important health biomarker. Handgrip strength is associated with adverse health outcomes such as mortality and risk of developing chronic diseases, cardiovascular, respiratory, cancer and dementia. There is a paucity of evidence in Chile about the association of handgrip strength with these health outcomes limiting its visibility and implementation in clinical settings. Therefore, this narrative review summarizes the scientific evidence about the association of grip strength with non-communicable chronic diseases and mortality in middle age and older adults.

[Handgrip strength as a predictor of adverse health outcomes]. / Fuerza de prensión manual. Un sencillo, pero fuerte predictor de salud en población adulta y personas mayores.

Muscle strength can be measured through different methods and handgrip strength is one of the most used techniques in epidemiological studies. Given its easy application, high reliability, and low cost, it is considered an important health biomarker. Handgrip strength is associated with adverse health outcomes such as mortality and risk of developing chronic diseases, cardiovascular, respiratory, cancer and dementia. There is a paucity of evidence in Chile about the association of handgrip strength with these health outcomes limiting its visibility and implementation in clinical settings. Therefore, this narrative review summarizes the scientific evidence about the association of grip strength with non-communicable chronic diseases and mortality in middle age and older adults.

Undiagnosed sleep disorder breathing as a risk factor for critical COVID-19 and pulmonary consequences at the midterm follow-up.

INTRODUCTION: Patients with severe COVID-19 develops an acute respiratory distress syndrome (ARDS), requiring admission to the intensive care unit. COVID-19 also reports an increased prevalence of comorbidities, similar to patients with Sleep disorder breathing (SDB). OBJECTIVES: To evaluate the association between undiagnosed SDB and the risk of ARDS and pulmonary abnormalities in a cohort of patients' survivors of COVID-19 between 3 and 6 months after diagnosis. METHODS: Prospective cohort study of patients who developed ARDS during hospitalization due to COVID-19 compared with a control group of patients who had COVID-19 with mild to moderate symptoms. All patients were evaluated between the 12th and 24th week after SARS-CoV-2 infection. The evaluation includes persistent symptoms, lung diffusing capacity of carbon monoxide (DLCO), chest CT scan and home sleep apnea test. SDB was diagnosed by the respiratory disturbance index ≥5 ev/h. The association between SDB and ARDS, the hazards of lung impairment and the hazard ratios (HR) were analyzed. RESULTS: A total of 60 patients were included (ARDS: 34 patients, Control: 26 patients). The mean follow-up was 16 weeks (range 12-24). ARDS reported a high prevalence of SDB (79% vs. 38% in control group). A total of 35% reported DLCO impairment, and 67.6% abnormal chest CT. SDB was independently associated to ARDS, OR 6.72 (CI, 1.56-28.93), p < 0.01, and abnormal Chest CT, HR 17.2 (CI, 1.68-177.4, p = 0.01). Besides, ARDS, days in mechanical ventilation, male gender were also associated with an increased risk of abnormal chest CT. CONCLUSION: Undiagnosed SDB is prevalent and independently associated with ARDS. In addition, undiagnosed SDB increased the hazard of abnormal Chest CT in the midterm. STUDY REGISTER: ISRCTN16865246.

Relación entre síndrome de Burnout y riesgo psicosocial intralaboral en profesionales sociales / Relationship Between Burnout Syndrome and Psychosocial Risk Within the Workplace in Social Professionals

Resumen El objetivo de esta investigación fue identificar la relación existente entre el síndrome de burnout y las condiciones de riesgo psicosocial intralaboral en profesionales del área social. En relación con la metodología, se realizó un diseño no experimental de corte transversal de alcance correlacional, para una muestra no probabilística de 76 profesionales. El plan de análisis de datos se desarrolló a partir de un modelo de ecuaciones estructurales. Los resultados indicaron que existieron relaciones significativas entre las demandas de trabajo, el control sobre el trabajo y las recompensas con el dominio de desgaste emocional, así como entre las demandas de trabajo y el dominio de despersonalización en el síndrome de burnout. Estas relaciones, al ser significativas, aportan al modelo de ecuaciones estructurales donde se logra establecer que existe una relación entre las variables de estudio y que el riesgo psicosocial intralaboral explica el burnout en un 47.8 %. Este porcentaje es conducente con la importancia de las variables de los modelos teóricos de estrés y estrés crónico (desequilibrio esfuerzo-recompensa, demanda, control y apoyo social y desgaste emocional).

Abstract The objective of this research was to identify the relationship between burnout syndrome and psychosocial risk conditions within the workplace in social professionals. Concerning the methodology, a non‑experimental cross‑sectional design of correlational scope was carried out for a non‑probabilistic sample of 76 professionals. The data analysis plan was developed from a structural equations model. The results indicated that there were significant relationships between work demands, control over work, and rewards with the emotional burnout domain, as well as between work demands and the depersonalization domain in the burnout syndrome. These relationships, being significant, contribute to the structural equations model where it is possible to establish, in the first place, that there is a relationship between the study variables, and that psychosocial risk within the workplace explains burnout in 47.8%. This percentage is consistent with the importance of the variables of the theoretical models of stress and chronic stress (effort‑reward imbalance, demand, control and social support, and emotional exhaustion).

[Comparison between self-reported and device measured physical activity according to nutritional status]. / Comparación de los niveles de actividad física medidos con cuestionario de autorreporte (IPAQ) con medición de acelerometría según estado nutricional.

BACKGROUND: It is unknown if nutritional status could influence the accuracy of self-reported physical activity (PA) levels. AIM: To compare PA measured using the international physical activity questionnaire (IPAQ) and by accelerometry (ActiGraph) according to nutritional status in Chilean adults. MATERIAL AND METHODS: This is an observational cross-sectional study that used information from the GENADIO project carried out in Chile between 2009-2011. The sample consisted of 322 people. PA levels and sitting time were determined through the IPAQ self-report questionnaire and ActiGraph accelerometers (GTM1). The nutritional status was determined according to body mass index (BMI). RESULTS: Compared with the measurement made with accelerometry, the IPAQ self-report questionnaire underestimated the levels of light PA, total PA and sedentary time in -171.5, -54.8 and -40.6 min / day, respectively. However, IPAQ overestimated the levels of moderate PA and vigorous PA in 91.0 and 47.3 min/day respectively, compared with accelerometry. Compared with normal weight, obese subjects reported higher levels of moderate PA (105.5 and 48.9 min/day, respectively) and vigorous PA (54.1 and 38.3 min/day respectively). Total PA had a greater delta of underestimation between IPAQ and accelerometer measurements in normal weight than in obese subjects (-122.1 vs -16.5 min/day, respectively). CONCLUSIONS: The measurement of PA by means of a self-report questionnaire was discrepant with its objective measurement with an accelerometer. The discrepancy is even higher in obese people.

Comparación de los niveles de actividad física medidos con cuestionario de autorreporte (IPAQ) con medición de acelerometría según estado nutricional / Comparison between self-reported and device measured physical activity according to nutritional status

Background: It is unknown if nutritional status could influence the accuracy of self-reported physical activity (PA) levels. Aim: To compare PA measured using the international physical activity questionnaire (IPAQ) and by accelerometry (ActiGraph) according to nutritional status in Chilean adults. Material and Methods: This is an observational cross-sectional study that used information from the GENADIO project carried out in Chile between 2009-2011. The sample consisted of 322 people. PA levels and sitting time were determined through the IPAQ self-report questionnaire and ActiGraph accelerometers (GTM1). The nutritional status was determined according to body mass index (BMI). Results: Compared with the measurement made with accelerometry, the IPAQ self-report questionnaire underestimated the levels of light PA, total PA and sedentary time in −171.5, −54.8 and −40.6 min / day, respectively. However, IPAQ overestimated the levels of moderate PA and vigorous PA in 91.0 and 47.3 min/day respectively, compared with accelerometry. Compared with normal weight, obese subjects reported higher levels of moderate PA (105.5 and 48.9 min/day, respectively) and vigorous PA (54.1 and 38.3 min/day respectively). Total PA had a greater delta of underestimation between IPAQ and accelerometer measurements in normal weight than in obese subjects (-122.1 vs −16.5 min/day, respectively). Conclusions: The measurement of PA by means of a self-report questionnaire was discrepant with its objective measurement with an accelerometer. The discrepancy is even higher in obese people.

Cirugía de supresión ácida y derivación duodenal laparoscópica vs abierta en esófago de Barrett extenso: resultados y complicaciones a corto y largo plazo / Laparoscopic versus open fundoplication with acid suppression/duodenal diversion technique for long segment Barrettís esophagus

Resumen Introducción: En pacientes con esófago de Barrett largo hemos sugerido efectuar fundoplicatura con antrectomía, vagotomía y derivación duodenal en Y de Roux que podría asociarse con complicaciones y efectos colaterales. Objetivo: El objetivo de este estudio es comparar la cirugía por vía abierta vs laparoscópica en cuanto a complicaciones postoperatorias precoces y alejadas, mortalidad y resultados alejados. Material y método: Se comparan 2 cohortes de pacientes, 73 pacientes con cirugía abierta y 53 pacientes operados con la misma técnica por vía laparoscópica por el mismo equipo. Solo se incluyeron los pacientes con Barret largo. Se controlan clínicamente en el postoperatorio inmediato y alejado, con endoscopia e histología anual, y se evalúan los resultados en cuanto a complicaciones precoces, alejadas y se analiza la calidad de vida y la satisfacción del paciente. Para el análisis se utilizó «t¼ de Student considerando un valor de p < 0,05 como significativo. Resultados: En cuanto a complicaciones precoces en ambos grupos no hubo diferencias significativas. No hubo mortalidad postoperatoria. En las complicaciones tardías las complicaciones totales no son significativamente diferentes entre ambos grupos (solo cambian sus causas y características) ni en cuanto a la clasificación de Visick y el puntaje de calidad de vida. Conclusión: La fundoplicatura con procedimiento de supresión ácida y derivación biliar por vía laparoscópica presenta similares resultados a corto y largo plazo que la cirugía abierta, pero con los beneficios de una cirugía mínimamente invasiva.

Abstract Introduction: In patients with long Barrett esophagus we have suggested to perform fundoplication with antrectomy, vagotomy and Roux-en-Y duodenal diversion however it could be associated with complications and side effects. Objective: The objective of this study is to compare open versus laparoscopic surgery for early and early postoperative complications, mortality and distant outcomes. Material and method: We compare 2 cohorts of patients, 73 patients with open surgery and 53 patients, who underwent laparoscopic surgery using the same technique. Only patients with Long Barrett were included. They are clinically monitored in the early and late postoperative period, with endoscopy and histology at long term follow-up (3-5 years). The results were evaluated in terms of early and late complications, the quality of life and patient satisfaction were analyzed. For the analysis we used t-student considering a P < .05 as significant. Results: As for early complications, there were no significant differences in both groups. There was no postoperative mortality. In the late complications, the total complications are not significantly different between the two groups (only their causes and characteristics changed) neither in terms of Visick's classification and the quality of life score Conclusion: The fundoplication, with laparoscopic acid suppression and duodenal diversion, presents similar short-term and long-term results than open surgery, with the benefits of a mini-invasive procedure.

Toward a Droplet-Based Single-Cell Radiometric Assay.

Radiotracers are widely used to track molecular processes, both in vitro and in vivo, with high sensitivity and specificity. However, most radionuclide detection methods have spatial resolution inadequate for single-cell analysis. A few existing methods can extract single-cell information from radioactive decays, but the stochastic nature of the process precludes high-throughput measurement (and sorting) of single cells. In this work, we introduce a new concept for translating radioactive decays occurring stochastically within radiolabeled single-cells into an integrated, long-lasting fluorescence signal. Single cells are encapsulated in radiofluorogenic droplets containing molecular probes sensitive to byproducts of ionizing radiation (primarily reactive oxygen species, or ROS). Different probes were examined in bulk solutions, and dihydrorhodamine 123 (DHRh 123) was selected as the lead candidate due to its sensitivity and reproducibility. Fluorescence intensity of DHRh 123 in bulk increased at a rate of 54% per Gy of X-ray radiation and 15% per MBq/ml of 2-deoxy-2-[18F]-fluoro-d-glucose ([18F]FDG). Fluorescence imaging of microfluidic droplets showed the same linear response, but droplets were less sensitive overall than the bulk ROS sensor (detection limit of 3 Gy per droplet). Finally, droplets encapsulating radiolabeled cancer cells allowed, for the first time, the detection of [18F]FDG radiotracer uptake in single cells through fluorescence activation. With further improvements, we expect this technology to enable quantitative measurement and selective sorting of single cells based on the uptake of radiolabeled small molecules.

Testosterone increases CCL-2 expression in visceral adipose tissue from obese women of reproductive age.

CONTEXT: Hyperandrogenic states and obesity in women are associated with insulin-resistance. Androgens reduce glucose uptake in adipose cells and increase TNFα production in peripheral monocytes. Inflammatory cytokines have a known detrimental effect on insulin resistance. The aim of the present study was to explore the role of testosterone in local cytokine production in visceral adipose tissue from women of reproductive age. DESIGN: Twenty-four women 18-40 years old, undergoing elective abdominal surgery for benign and non-inflammatory conditions, were recruited for the study. Women with clinical hyperandrogenism, diabetes, hepatic or renal dysfunction, hypothyroidism, BMI> 40 or drugs known to interfere with hormonal levels or fat metabolism were excluded. Women were classified into two groups according to BMI, non-obese (NO; BMI < 30) and obese (O; BMI 30-40). A basal blood sample was drawn at the time of surgery for the measurement of glucose, insulin, total testosterone, lipid profile and circulating CCL-2, IL-6 and total adiponectin. Omental fat tissue (10 g) was obtained in all women. Samples of 300 mg of minced adipose tissue were incubated with vehicle (CTL) or testosterone (T) 10-9 M to 10-6 M for 24, 48 or 72 h. CCL-2, IL-6, TNFα, androgen Receptor (AR) mRNA levels were measured by Real Time quantitative polymerase chain reaction (qPCR) and normalized to GAPDH expression. Secretion of CCL-2 and IL-6 was measured in conditioned media by ELISA. RESULTS: Expression of CCL-2 and IL-6 at 24 h in CTLs was significantly higher in the obese group compared to the non-obese group (2.81 ± 0.43 fold for CCL-2; p = 0.005 and 3.26 ± 0.73 fold for IL-6; p = 0.03). At 48 and 72 h there were no differences between both groups in any of the markers. In the total group without T stimulation (CTL) there were significant correlations between: TNFα expression at 24 h and BMI (r = 0.708; p = 0.005), TGC levels (r = 0.904; p = 0.004), total Cholesterol (r = 0.904; p = 0.0046) and IL-6 expression at 24 h (r = 0.642; p = 0.015). CCL-2 expression at 24 h was correlated with BMI (r = 0.637; p = 0.007) and TGC levels (r = 0.700; p = 0.02). Stimulation with T 10-6 M for 72 h produced an increase in CCL-2 expression, which was significantly larger in the obese group compared to the non-obese group (2.04 ± 0.44 in obese vs 0.82 ± 0.11 in non-obese; p = 0.015). Moreover, in the whole group there was a positive correlation between CCL-2 expression in T-treated tissues (10-6 M 72 h) and BMI (r = 0.514; p = 0.017). Cytokine determinations followed the same pattern as mRNA but without significant differences. CONCLUSIONS: Testosterone increases CCL-2 expression in visceral adipose tissue from obese women of reproductive age. This response is associated to BMI. These results show new possible mechanisms connecting androgens to insulin resistance and chronic inflammation.

Tratamiento quirúrgico de la litiasis urinaria mediante laparoscopía / Surgical treatment of the urinary lithiasis using laparoscopy

Este trabajo muestra la experiencia en el tratamiento quirúrgico de los cálculos de la vía urinaria mediante cirugía laparoscópica con el uso de sutura intracorpórea. En un período de 11 meses se operaron 16 pacientes con cálculos mayores a 1 cm. Ubicación pelvis renal 7, uréter lumbar 6, uréter medio 1, uréter distal 1, vesical 1. La tasa de éxito fue 88 por ciento (14/16). El tiempo quirúrgico promedio fue de 118 (73-180) min. Hubo dos complicaciones; neuropraxia del nervio génitofemoral y sangramiento de la pared abdominal. Es factible realizar un manejo laparoscópico de la litiasis urinaria cuando han fallado los tratamientos de primera línea o cuando no se dispone de ellos.

Urología laparoscópica: experiencia inicial del Hospital Regional de Rancagua / Laparoscopic urology: initial experience at the Hospital Regional de Rancagua

Este trabajo muestra todas las cirugías laparoscópicas realizadas entre diciembre de 2002 y octubre de 2003, lo que representa nuestra primera experiencia con la urología laparoscópica. En un período de 11 meses se efectuaron 63 procedimientos laparoscópicos: Ligadura de vena espermática n=19 (3 bilaterales), tiempo quirúrgico promedio 27,8 min, 84 por ciento ambulatorios. Sin complicaciones. Litiasis urinaria n=16, tiempo quirúrgico promedio 118 (75-180) min, éxito en 88 por ciento (14/16). Complicaciones 2: neuropraxia del nervio génitofemoral y sangramiento de pared abdominal. Nefrectomías n=14, 3 por cáncer. Mano asistidas en 6 casos. Tiempo quirúrgico promedio 134 (100-205) min. Sangramiento promedio 251 (50-900) cc. Hospitalización promedio 2,2 días. No hubo conversiones a cirugía abierta. Complicaciones: 1 paciente (N°12 de la serie) fallecido a las 48 horas por pancreatitis post quirúrgica. Linfadenectomía lumboaórtica n=9, tiempo quirúrgico promedio 140 (100-215) min. No hubo conversiones a cirugía abierta. Número de ganglios promedio 12 (5-18). Hospitalización promedio 2,5 días. Sin complicaciones. Linfadenectomía pelviana en cáncer vesical n=1, tiempo 60 min, sin complicación. Quistectomía renal n=2, tiempo quirúrgico promedio 72 min, sin complicaciones. Vaciamiento de urinoma n=1, tiempo 35 min. sin complicación. Laparoscopía diagnóstica n=1, tiempo 25 min, sin complicación. La cirugía laparoscópica en urología es posible de realizar. Tiene una curva de aprendizaje considerable. Se debe realizar un entrenamiento escalonado y una vez iniciada, se requiere de continuidad y un ascenso gradual en la complejidad de las cirugías.

Tumor testicular de células de Leydig / Testicular tumor of the LeydigÆs cell

Los tumores testiculares se originan, en más del 95 porciento de los casos, de las células germinales. El resto nace de las células del intersticio. En este grupo se encuentra el tumor de células de Leydig, el cual representa el 1 porciento de todos los tumores testiculares. En general, esta neoplasia tiene un comportamiento benigno y su manejo no difiere de los otros tumores. Presentamos este caso clínico debido a su muy baja frecuencia en la práctica clínica.

Sistematización de experiencias en desarrollo territorial rural en Licoma Bolivia : periodo 1998 - 2002 / Es

La sistematización se desarrollo en periódo de 8 meses con el apoyo y la participación de los equipos técnicos de cada país, tanto de las oficinas centrales como de las áreas desarrollo, donde se involucró a los actores locales y beneficiarios de los programas y las autoridades, lo cual permitió lograr un proceso de reflexión en cada uno de estos niveles

Hemorragia pulpar por traumatismo único accidental en dientes anteriores permanentes de personas jóvenes / Pulp hemorrhage by teeth injury in young people

1. Se estudian, clínica e histopatológicamente, siete casos de lesiones pulpares consecutivas a trauma único accidental en dientes anteriores permanentes de personas jóvenes. 2. Se sintetizan los conceptos etiopatogénicos de la lesión específica que se estudia. 3. Se consignan las características del material y los métodos de investigación empleados. 4. A través de la descripción detallada de los casos, se coordinan sus cualidades clínicas e histopatológicas, formulando comentarios. 5. Se adjuntan cuadros sinópticos de los hallazgos logrados y se completa el análisis en conjunto de todo el material estudiado, con un comentario general clínico-histopatológico