Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report.

Alagille syndrome has been described as a multisystemic clinical spectrum caused by an autosomal dominant genetic disorder. Although it is estimated that there is 1 case per 100 000 live births, the prognosis for survival and quality of life for these patients is varied but tends to be negative. In Colombia, this condition is considered an orphan disease with difficult management due to the lack of specialized centers that have all the medical specialties and subspecialties. Some reports state that no more than 30 cases have been published in this country. Materials and methods: The authors report a case of a male baby who, at 8 days old, he was taken to the general practitioner's outpatient clinic for persistent jaundice. At 3 months of age, he was reviewed by the pediatric gastroenterology department, which requested liver and biliary tract scintigraphy, showing atresia of the biliary tract, hepatomegaly, and the absence of a gallbladder. Results: Liver transplantation is the definitive solution. However, in low- and middle-income countries, where there are no well-established organ transplantation programs, the prognosis for these patients is presumed to be worse. Conclusion: Alagille syndrome is a rare disease that requires an accurate and early diagnosis and timely multidisciplinary management to reduce the impact of multisystemic complications. It is necessary to advance in transplant programs in low- and middle-income countries, to provide a solution to cases where there are no other therapeutic alternatives, and to contribute to the quality of life of the affected patient.

Postoperative outcomes using Lichtenstein open hernioplasty versus Nyhus preperitoneal hernioplasty in inguinal hernia: A comparative analysis with 1-year follow-up.

Background and Aim: Inguinal hernia is the most common defect of the abdominal wall in 75% and their treatment consists of surgical repair. The technique of choice is laparoscopic because of its overall benefits. However, when this is not available, open approaches may be a viable option. Currently, the most commonly used open techniques are Lichtenstein and Nyhus. However, there are few medium- or long-term studies that have compared outcomes between these two techniques. Methods: This is a retrospective comparative study that included patients undergoing open inguinal hernia correction with mesh, using Lichtenstein open hernioplasty versus Nyhus preperitoneal hernioplasty, in two tertiary referral centers in Bogota, Colombia, during a period of 2 years. A bivariate analysis was performed to compare groups, according to the complications presented between the two techniques. Results: A total of 193 patients were included, of whom 53.36% were men and 112 (58.03%) were approached with the Nyhus technique versus 81 patients with the Lichtenstein technique. Nonabsorbable suture fixation was performed in 100% of patients. Among the main complications, seroma (5.18%), pain (4.14%), bleeding (2.07%), recurrence (10.88%), and reoperation (0.51%) were observed, of which only recurrence showed a statistically significant difference, which is lower in the Nyhus approach (3.57% vs. 20.67%; p < 0.001). No patients died. Conclusions: Both Nyhus and Lichtenstein hernioplasty techniques were shown to cause a low incidence of postoperative complications, with significantly lower recurrence using the Nyhus technique up to 1 year postoperatively.

Knowledge, attitudes and experience of physicians working in Chile toward the prescription of pre-exposure prophylaxis (PrEP): A cross-national survey.

BACKGROUND: Pre-exposure prophylaxis (PrEP) involves administering antiretroviral drugs to prevent human immunodeficiency virus (HIV) infection in at-risk subjects. Chile is considered one of the countries with the highest number of new cases per year of HIV infections. METHODS: A nationwide cross-sectional study was carried out in Chile. A questionnaire of physicians' attitudes toward the prescription of PrEP was used. RESULTS: 632 doctors responded correctly the survey. 58.5% (n = 370) were women, and median age was 34 years (IQR 25-43). 55.4% (n = 350) responded that they have never prescribed antiretrovirals for HIV-negative individuals to prevent HIV infection, and only 10.1% have prescribed PrEP. 60.8% (n = 384) mentioned having informed about the possibility of using antiretroviral post-exposure prophylaxis in case of risky sexual activity. 76.3% (n = 482) believed each institution should formulate internal protocols for administering these drugs, and 98.4% (n = 622) stated that with the currently available evidence, PrEP should be suggested to cope with the HIV pandemic. CONCLUSION: It was concluded that knowledge, attitudes and experience toward PrEP prescribing are variable and related to patient care. However, Chile has a marked tendency in favor of this therapy, which is similar to that reported in studies worldwide.

The effect of bariatric surgery on metabolic syndrome: A retrospective cohort study in Colombia.

Introduction and Objective: Metabolic syndrome (MetS) represents a group of metabolic abnormalities. It is currently a pandemic, and its prevalence is on the rise. MetS has a direct relationship with obesity, for this reason, bariatric and metabolic surgery has been proposed as a method to simultaneously control obesity and MetS. However, in Colombia the results of this intervention are unknown. This study aims to compare metabolic syndrome before and after bariatric surgery in a Colombian population. Methods: Retrospective cohort study conducted in a highly complex institution in Colombia, where comparing the prevalence of metabolic syndrome in patients who underwent bariatric surgery during a 1-year follow-up period, between January 2015 and December 2019. Of these patients, 48 underwent Roux-en-Y gastric bypass, and 32 underwent sleeve gastrectomy by laparoscopic technique. Results: A total of 80 patients were included, of which 67.5% were women and the mean age was 42.8 ± 12.9 years. The most frequent preprocedure comorbidities were arterial hypertension (36.2%), dyslipidemia (32.4%), and sleep apnea (20%). After bariatric surgery, the prevalence of metabolic syndrome decreased from 66.2% to 3.7% (p < 0.05). In addition, a reduction in the Homeostatic Model Assessment for Insulin Resistance score from 77.5% to 22.5% was observed during the follow-up period. HbA1c, creatinine, and thyroid-stimulating hormone, were the only parameters without significant changes. Conclusions: Metabolic and bariatric surgery is an effective treatment for weight reduction, with a high impact in reducing the prevalence of metabolic syndrome and insulin resistance in the short and medium term in the Colombian population.

Increase in C-reactive protein as early predictor of anastomotic leakage in abdominal surgery.

OBJECTIVES: The aim of this study was to evaluate the role of the C-reactive protein (CRP) and white cell count (WC) in the prediction of anastomotic leakage (AL) in major abdominal surgery. METHODS: Multicenter, prospective, and observational study of adult patients who underwent major abdominal surgery. CRP and hemogram were measured after post-operative day (POD) 3 and POD 5. Complications were classified according to the Clavien-Dindo classification. Diagnostic accuracy was evaluated by the area under the receiver operating characteristic curve (AUC). RESULTS: A total of 97 patients were included in the study. The mean age was 63 ± 12 years and 47 (48%) were male. Colorectal (56%) and gastric cancer (36%) were the most frequent diagnoses. About 23% had post-operative complications, of which 5% had AL. The most significant predictive factor was the increase in CRP ≥ 2.84 mg/L among POD 3 and 5 (AUC, 0.99, sensitivity, 95.6%, specificity, 100%, positive likelihood ratio, 23.0). The accuracy of the other biomarkers was lower, CRP on POD 3 (AUC, 0.55), on POD 5 (AUC, 0.93), WC on POD 3 (AUC, 0.33), and POD 5 (AUC, 0.35). CONCLUSION: The increase of CRP among POD 3 and 5 was an early predictor of AL in adult patients with major abdominal surgery.

OBJETIVO: El objetivo de este estudio fue evaluar el papel de la proteína C-reactiva (PCR) y el recuento de glóbulos blancos (RGB) en la predicción de la Fuga Anastomotica (FA) en la cirugía abdominal mayor. MÉTODO: Estudio multicéntrico, prospectivo y observacional de pacientes adultos sometidos a cirugía abdominal mayor. Se midieron la PCR y el hemograma después del día postoperatorio (DPO) 3 y DPO 5. Las complicaciones se categorizaron según la clasificación de Clavien-Dindo y la precisión diagnóstica se evaluó mediante el área bajo la curva (AUC). RESULTADOS: Se incluyeron un total de 97 pacientes. La edad media era de 63 ± 12 años y 47 (48%) eran hombres. El factor predictivo más significativo fue el aumento de la PCR ≥ 2,84 mg/L entre los DPO 3 y 5 (AUC, 0,99, sensibilidad, 95,6%, especificidad, 100%, ratio de probabilidad positiva, 23,0). La precisión de los demás biomarcadores fue menor, la PCR en el DPO 3 (AUC, 0,55), en el DPO5 (AUC, 0,93), el RGB en el DPO 3 (AUC, 0,33) y en el DPO 5 (AUC, 0,35). CONCLUSIONES: El aumento de la PCR entre los DPO 3 y 5 fue un predictor temprano de FA en pacientes adultos con cirugía abdominal mayor.

Predicting mortality in penetrating cardiac trauma in developing countries through a new classification: Validation of the Bogotá classification.

Introduction: Penetrating chest trauma (PCT) represents 10% of worldwide mortality, with developing countries counting as some of the most affected by high mortality rates due to cardiac trauma. Colombia is considered one of the most violent countries due to the high mortality rate associated with war and crime, hence the validation of an own classification for penetrating cardiac injuries (PCI) is mandatory. Methods: Retrospective cross-sectional study which included adult patients with PCIs at a level 4 trauma center in Colombia, between January 2018 and April 2020. We used our own system (Bogotá Classification) and compared it with traditional systems (e.g., Ivatury's, OIS-AAST), by analyzing the mechanism of injury (MOI), the hemodynamic status of the patient at admission, the inpatient management, the individual outcomes, and some demographic variables. Bivariate statistical analysis, spearman correlation, and logistic regression were performed. Results: Four hundred and ninety-nine patients were included. Bivariate analysis demonstrated a significant relationship between mortality and hemodynamic state, MOI, its location and degree of lesion, cardiac/vessel injury, cardiac tamponade, time between injury and medical care, fluid reanimation, as well as the Ivatury's classification and the new classification (p < 0.005). The adequate correlation between Ivatury's and Bogotá classification supports the latter's clinical utility for patients presenting with PCI. Likewise, logistic regression showed a statistically significant association among mortality rates (p < 0.005). Conclusions: The Bogotá classification showed similar performance to the Ivatury's classification, correlating most strongly with mortality. This scale could be replicated in countries with similar social and economic contexts.

Navigating mysterious lands regarding the predictive value of the SOFA score: the race dilemma / Navegando por un territorio misterioso en cuanto al valor predictivo de la puntuación del SOFA: el dilema de la raza

Critical syndromes are conditions that carry a high global burden of disease. Scoring systems are practical and reproducible aids that allow patients with more severe disease to be quickly identified and admitted to intensive care and to initiate structured and aggressive therapy. The Sequential Organ Failure Assessment (SOFA) score is one of the most widely used in the world, as there are several versions and it is simple. However, with the appearance of the COVID-19, several studies showed that there was a disparity in the estimation of mortality and associated outcomes, with respect to race, which culminated in an excess of preventable mortality in certain racial groups. Constant evaluation of the performance of these scoring systems must be performed due to definitional updates, which may vary the accuracy of the predictive value. There is a very large evidence gap in this regard, as the existing studies are from high-income countries where the predominant racial group is Caucasian, which should draw attention to the magnitude of the problem. Based on the above, the objective of this review is to discuss evidence on the performance of critical care scoring systems, particularly SOFA, and the impact that race has had on its predictive value.

Los síndromes críticos son condiciones que acarrean una elevada carga de enfermedad a nivel global. Los sistemas de puntaje, son ayudas prácticas y reproducibles que permiten identificar de manera rápida pacientes con enfermedad más grave e ingresarlos a cuidado intensivo e iniciar terapia estructurada y agresiva. El score Sequential Organ Failure Assessment (SOFA), es uno de los más utilizados en el mundo, al existir varias versiones y ser sencillo. No obstante, con la aparición de la COVID-19, diversos estudios demostraron que existía una disparidad en cuanto a la estimación de mortalidad y desenlaces asociados, respecto a la raza, lo que culminó en un exceso de mortalidad prevenible en ciertos grupos raciales. La evaluación constante del rendimiento de estos sistemas de puntaje, debe realizarse debido a actualizaciones de definiciones, las cuales pueden variar la precisión del valor predictivo. Existe una brecha muy grande en cuanto la evidencia al respecto, puesto que los estudios existentes provienen de países de altos ingresos, donde el grupo racial predominante son los caucásicos, lo que debe llamar la atención de la magnitud del problema. Sobre la base de lo anterior, el objetivo de esta revisión consiste en discutir evidencia al respecto sobre el rendimiento de sistemas de puntuación en cuidado crítico, particularmente del SOFA y el impacto que ha tenido la raza sobre su valor predictivo.

Laparoscopy has better performance than laparotomy in the treatment of stable penetrating abdominal trauma: A retrospective cross-sectional study in a trauma referral hospital in Colombia.

Background: Abdominal trauma is one of the leading causes of death. In Colombia, few studies have evaluated the results on related factors and outcomes when comparing laparotomy versus laparoscopy in the management of penetrating abdominal trauma. Therefore, the aim of this study was to investigate the feasibility and safety of laparoscopy in the treatment of stable penetrating abdominal trauma in a limited resources environment in a middle-income country. Methods: Retrospective cross-sectional study was conducted in Bogota, Colombia from January 2018 to October 2020. Patients over 18 years old, hemodynamically stable with penetrating abdominal trauma without other body parts injuries, that underwent laparoscopy and/or laparotomy surgical exploration and treatment were included. Frequencies, percentages, correlations, and odds ratio were calculated. Results: A total of 52 patients were analyzed (26 laparoscopy vs. 26 laparotomy). Stabbing injuries were more frequent in both groups (76.9%), as well as involvement of the anterior abdomen. None missed enterotomies were reported in the laparoscopy group. Surgical time and bleeding were significantly lower in the laparoscopic approach group (63 vs. 115 min and 65 vs. 992 cc, respectively). The time to oral intake and length of stay in the intensive care unit was significantly shorter in the laparoscopic management group (2 vs. 3 days and 1 vs. 4 days, respectively). Conclusions: Surgical results found a safe scenario in a limited resources environment for the application of the laparoscopic technique to approach penetrating abdominal trauma in stable patients without missed injuries, low threshold of conversion to open approach, and additionally not presenting a higher percentage of complications compared with the laparotomy group in Colombia. Operative time, oral intake, and length of hospital stay were lower in the fully therapeutic laparoscopy group.

Prevalencia de sarcopenia en adultos mayores de dos hogares geriátricos de Pereira, Colombia Prevalence of sarcopenia in older adults in t / Prevalence of sarcopenia in older adults in two retirement homes in Pereira, Colombia

Introducción: La sarcopenia es un factor de riesgo para morbilidad, mortalidad y discapacidad en adultos mayores, por lo que su manejo es prioridad en geriatría. El objetivo de este artículo, consiste en caracterizar una población de adultos mayores de dos hogares geriátricos y establecer la prevalencia de sarcopenia y el grado de dependencia. Métodos: Estudio de corte transversal desarrollado en la ciudad de Pereira-Colombia. Se incluyó a una población de 72 adultos desde los 65 hasta los 98 años, usando muestreo probabilístico. Se determinó la sarcopenia por medio de los Criterios del Consenso Europeo sobre Definición y Diagnóstico de Sarcopenia; evaluándose la fuerza de prensión, índice de masa muscular esquelética, en caso de presentarse sarcopenia, la severidad de esta junto a la velocidad de marcha, y el grado de dependencia según la escala de Barthel. Resultados: Participaron finalmente 57 personas. El 68,4% (n=39) eran mujeres. La mediana de la edad fue de 83 años. El 2% no presentó sarcopenia, 9% presentaban sospecha de sarcopenia, 28% tenían sarcopenia confirmada y 61% sarcopenia grave. Según la escala de Barthel, el 31,5% eran independientes, 45,6% tenían dependencia leve, 15,8% moderada, 5,3% severa y 1,8% total. Conclusiones: La prevalencia de sarcopenia en los hogares geriátricos de Pereira es mayor en comparación a la reportada en la literatura. Del mismo modo, encontrarse en un hogar geriátrico privado no garantiza una mejor condición física y/o calidad de vida.

Introduction: Is a risk factor for morbidity, mortality and disability in older adults, so its management is a priority in geriatrics. The aim of this article is to characterize a population of older adults from two geriatric homes and to establish the prevalence of sarcopenia and the degree of dependence. Methods: Cross-sectional study developed in the city of Pereira-Colombia. A population of 72 adults from 65 to 98 years of age was included, using probability sampling. Sarcopenia was determined by means of the Criteria of the European Consensus on Definition and Diagnosis of Sarcopenia, evaluating grip strength, skeletal muscle mass index, in case of sarcopenia, the severity of sarcopenia together with walking speed, and the degree of dependence according to the Barthel scale. Results: 57 people participated. A total of 68.4% (n=39) were women. The median age was 83 years. Two percent had no sarcopenia, 9% had suspected sarcopenia, 28% had confirmed sarcopenia and 61% had severe sarcopenia. According to the Barthel scale, 31.5% were independent, 45.6% had mild, 15.8% moderate, 5.3% severe and 1.8% total dependence. Conclusions: The prevalence of sarcopenia in nursing homes in Pereira is higher compared to that reported in the literature. Similarly, being in a private nursing home does not guarantee a better physical condition and/or quality of life

Pulmonary injury as a predictor of cerebral hypoxia in traumatic brain injury: from physiology to physiopathology.

Traumatic brain injury is caused by mechanical forces impacting the skull and its internal structures and constitutes one of the main causes of morbidity and mortality in the world. Clinically, severe traumatic brain injury is associated with the development of acute lung injury and so far, few studies have evaluated the cellular, molecular and immunological mechanisms involved in this pathophysiological process. Knowing and investigating these mechanisms allows us to correlate pulmonary injury as a predictor of cerebral hypoxia in traumatic brain injury and to use this finding in decision making during clinical practice. This review aims to provide evidence on the importance of the pathophysiology of traumatic brain injury-acute lung injury, and thus confirm its role as a predictor of cerebral hypoxia, helping to establish an appropriate therapeutic strategy to improve functional outcomes and reduce mortality.

[¿Conflictos de intereses ocultos en publicaciones científicas en tiempos de COVID-19?]

Hemos leído con sumo interés el artículo publicado por Diéguez-Campa, et al.1, titulado The 2020 research pandemic: a bibliometric analysis of publications on COVID-19 and their scientific impact during the first months, en el que los autores hacen un excelente e innovador análisis bibliométrico sobre la publicación científica médica en los primeros meses de desarrollo de la pandemia de COVID-19.

Validación de los criterios predictivos de alto riesgo para coledocolitiasis de la Sociedad Americana de Endoscopia Gastrointestinal, 2010: Experiencia de un centro del caribe colombiano / Validation of the predictive criteria of high risk for choledocholithiasis of the american society for Gastrointestinal Endoscopy, 2010: experience of a Colombian Caribbean Center

Introducción: La colangiopancreatografía retrógrada endoscópica (CPRE) se ha convertido en el estándar de oro para el diagnóstico y tratamiento de la coledocolitiasis. La Sociedad Americana de Endoscopia Gastrointestinal (ASGE) propuso en 2010 estratificar a los pacientes en 3 niveles de riesgo; sin embargo, los estudios han encontrado resultados controvertidos sobre los parámetros predictivos de estos criterios diagnósticos. El objetivo de este estudio consiste en determinar el desempeño de los criterios predictivos de alto riesgo de la ASGE 2010 en el diagnóstico de coledocolitiasis en una población del Caribe colombiano. Métodos: Estudio transversal retrospectivo, en el que se incluyeron pacientes con sospecha de coledocolitiasis, y que fueron llevados a evaluación por CPRE, cumpliendo los criterios propuestos por la ASGE de alta probabilidad. El resultado obtenido se comparó con la presencia de coledocolitiasis en la CPRE, a partir de la cual se estimaron los valores y los intervalos de confianza del 95% para la sensibilidad, la especificidad, el valor predictivo positivo y negativo, y la razón de probabilidad positiva y negativa. Resultados: En este estudio se incluyeron los datos de 118 pacientes. La edad media de los pacientes era de 46 años (RIQ= 31; 17- 89); el 78% (n= 92) eran mujeres. El 65,3% (n= 77) eran mayores de 55 años. El resultado de la CPRE fue positivo en el 81,4% (n= 96) de los pacientes. La presencia de un perfil hepático alterado (90%) resultó ser la prueba más sensible, la colangitis clínica (86%) la más específica, la presencia de litiasis ductal por US (85%) fue la prueba con mayor valor predictivo positivo, y la presencia de litiasis ductal por US (35%) fue la prueba con mayor valor predictivo negativo. Conclusión: Los parámetros predictivos de los criterios de la ASGE 2010 para el diagnóstico de coledocolitiasis muestran variabilidad con respecto al rendimiento propuesto en las guías.

Introduction: Endoscopic retrograde cholangiopancreatography (ERCP) has become the gold standard for diagnosis and treatment of choledocholithiasis. The American Society for Gastrointestinal Endoscopy (ASGE) in 2010 proposed stratifying patients into 3 risk levels; however, studies have found controversial results about the predictive parameters of these diagnostic criteria. The objective of this study is to determine the performance of the high-risk predictive criteria of the ASGE 2010 in the diagnosis of choledocholithiasis in a Colombian Caribbean population. Methods: Retrospective cross-sectional study, which included patients with suspected choledocholithiasis, and who were taken for evaluation by ERCP, meeting the criteria proposed by the ASGE of high probability. The result obtained was compared with the presence of choledocholithiasis on ERCP, from which values and 95% confidence intervals were estimated for sensitivity, specificity, positive and negative predictive value, and positive and negative likelihood ratio. Results: A total of 118 patient data were included in this study. The median age of the patients was 46 years (IQR= 31; 17- 89); 78% (n= 92) were female. 65.3% (n= 77) were older than 55 years. The ERCP result was positive in 81.4% (n= 96) of the patients. The presence of an altered liver profile (90%) was found to be the most sensitive test, clinical cholangitis (86%) the most specific, the presence of duct lithiasis by US (85%) was the test with the highest positive predictive value, and the presence of duct lithiasis by US (35%) was the test with the highest negative predictive value. Conclusions: The predictive parameters of the ASGE 2010 criteria for the diagnosis of choledocholithiasis show variability with respect to the performance proposed in the guidelines.