Amerindian ancestry proportion as a risk factor for inflammatory bowel diseases: results from a Latin American Andean cohort.

Background and aims: Latin American populations remain underrepresented in genetic studies of inflammatory bowel diseases (IBDs). Most genetic association studies of IBD rely on Caucasian, African, and Asian individuals. These associations have yet to be evaluated in detail in the Andean region of South America. We explored the contribution of IBD-reported genetic risk variants to a Chilean cohort and the ancestry contribution to IBD in this cohort. Methods: A total of 192 Chilean IBD patients were genotyped using Illumina's Global Screening Array. Genotype data were combined with similar information from 3,147 Chilean controls. The proportions of Aymara, African, European, and Mapuche ancestries were estimated using the software ADMIXTURE. We calculated the odds ratios (ORs) and 95% confidence intervals (CIs) for gender, age, and ancestry proportions. We also explored associations with previously reported IBD-risk variants independently and in conjunction with genetic ancestry. Results: The first and third quartiles of the proportion of Mapuche ancestry in IBD patients were 24.7 and 34.2%, respectively, and the corresponding OR was 2.30 (95%CI 1.52-3.48) for the lowest vs. the highest group. Only one variant (rs7210086) of the 180 reported IBD-risk SNPs was associated with IBD risk in the Chilean cohort (adjusted P = 0.01). This variant is related to myeloid cells. Conclusion: The type and proportion of Native American ancestry in Chileans seem to be associated with IBD risk. Variants associated with IBD risk in this Andean region were related to myeloid cells and the innate immune response.

Ethnicity influences phenotype and clinical outcomes: Comparing a South American with a North American inflammatory bowel disease cohort.

Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn disease (CD), has emerged as a global disease with an increasing incidence in developing and newly industrialized regions such as South America. This global rise offers the opportunity to explore the differences and similarities in disease presentation and outcomes across different genetic backgrounds and geographic locations. Our study includes 265 IBD patients. We performed an exploratory analysis of the databases of Chilean and North American IBD patients to compare the clinical phenotypes between the cohorts. We employed an unsupervised machine-learning approach using principal component analysis, uniform manifold approximation, and projection, among others, for each disease. Finally, we predicted the cohort (North American vs Chilean) using a random forest. Several unsupervised machine learning methods have separated the 2 main groups, supporting the differences between North American and Chilean patients with each disease. The variables that explained the loadings of the clinical metadata on the principal components were related to the therapies and disease extension/location at diagnosis. Our random forest models were trained for cohort classification based on clinical characteristics, obtaining high accuracy (0.86 = UC; 0.79 = CD). Similarly, variables related to therapy and disease extension/location had a high Gini index. Similarly, univariate analysis showed a later CD age at diagnosis in Chilean IBD patients (37 vs 24; P = .005). Our study suggests a clinical difference between North American and Chilean IBD patients: later CD age at diagnosis with a predominantly less aggressive phenotype (39% vs 54% B1) and more limited disease, despite fewer biological therapies being used in Chile for both diseases.

Laparoscopic management of gallstone ileus: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Gallstone ileus is an uncommon complication of cholelithiasis. It is usually presented as a small bowel obstruction. Elderly patients are commonly affected. The diagnosis is challenging, since needs a high index of suspicion and imagenology is key. Surgery is the mainstay management, most commonly performed by laparotomy, but laparoscopy is summing cases. Nevertheless the approach is still controversial. We report a gallstone ileus case, that was managed totally laparoscopic in our medium complex public institution. CASE PRESENTATION: An 71 years-old male patient, with symptomatic cholelithiasis, consulted in emergency department with symptoms and signs of small bowel obstruction. Computed tomography of abdomen and pelvis showed the classical Rigler's triad. Totally laparoscopic enterolithotomy alone was performed successfully. Postoperative evolution was without incidents, being discharge at fifth day. CLINICAL DISCUSSION: Gallstone ileus represents around 0,3-0,5% of cholelithiasis complications. Mostly affect elderly women patients, with comorbidities. Mortality and morbidity is still high nowadays. The classical management of gallstone ileus is the open surgery, but the laparoscopic approach has been described and it can be done. CONCLUSION: The laparoscopic management of gallstone ileus is effective and secure procedure and seems reasonable to attempt if the conditions and skills are available.

Systemic thrombolysis for acute submassive pulmonary embolism after laparoscopic Roux-en-Y bypass: A case report.

INTRODUCTION: Venous thromboembolism (VTE) in bariatric surgery is a low incidence disease; however, it is the first cause of morbimortality in this group of patients. PRESENTATION OF THE CASE: We present the case of a female patient with morbid obesity who was readmitted due to an acute submassive bilateral pulmonary embolism (PE) nineteen days after a laparoscopic Roux-en-Y gastric bypass (RYGB). After diagnosis, anticoagulation was initiated, and decision to add mechanical and pharmacological thrombolysis was made with the patient been successfully treated, as shown by normalization of pulmonary hypertension. DISCUSSION: VTE in bariatric surgery is rare but contributes to significant morbidity and mortality in patients undergoing bariatric surgery. CONCLUSION: It is necessary to have a high index of suspicion to make a timely diagnosis and initiate an early treatment. In selected cases, adding mechanical and pharmacological thrombolysis could increase chance of reverse pulmonary hypertension.

Guía clínica GES de artritis idiopática juvenil 2014 / 2014 GES clinical guideline of juvenile idiopathic arthritis

La artritis idiopática juvenil (AIJ) ha sido definida por la Liga Internacional de Asociaciones de Reumatología (ILAR) como artritis de etiología desconocida que se inicia antes de los 16 años y dura por al menos seis semanas, habiendo excluido otras condiciones conocidas. La AIJ es una enfermedad cubierta por el sistema de Garantías Explícitas en Salud (GES) del Ministerio de Salud de Chile desde 2010. La presente guía, desarrollada por el Grupo Pediátrico de la Sociedad Chilena de Reumatología, consiste en una actualización de la Guía Clínica de AIJ 2010, incorporando nuevos protocolos terapéuticos y medicamentos que han demostrado un claro beneficio para niños con AIJ...

Juvenile idiopathic arthritis (JIA) has been defined by the International League of Associations for Rheumatology as arthritis of unknown etiology that begins before the sixteenth birthday and persists for at least 6 weeks with other known conditions excluded. JIA is a disease that is covered by the Explicit Health Guarantees system of the Chilean Ministry of Health since 2010. The present guideline developed by the Pediatric Group of the Chilean Rheumatology Society is an update of the 2010 JIA Clinical Guideline incorporating new treatment protocols and medications that have demonstrated clear benefits in children with JIA...

Linfoma de Hodgkin con compromiso hepático tratado con esquema gemcitabina, dexametasona y cisplatino como puente para terapia estándar: Caso clínico / Hodgkin lymphoma with hepatic involvement treated with dexametasone, gemcitabine and cisplatin as a bridge to standard therapy: Report of one case

Background: The initial presentation of Hodgkin lymphoma with liver involvement is rare. In these patients, the standard first-line therapy with ABVD (Adriamycin, Bleomycine, Vinblastine, Dacarbazine) imply an additional risk for liver toxicity. We report a 64-year-old woman who presented with jaundice, choluria, malaise and weight loss. In the initial evaluation she had jaundice and palpable groin lymph nodes. An obstructive biliary disease was ruled out with magnetic resonance imaging studies. A lymph node biopsy showed a Hodgkins lymphoma, Mixed-cellularity subtype. Considering the liver dysfunction, an alternative scheme of chemotherapy with dexamethasone, gemcitabine and cisplatin (GDP) was administered. After 4 cycles, a significant improvement in liver hepatic function tests was reached and a conventional chemotherapy (ABVD) was begun. While the literature provides some low toxicity protocols for patients with liver involvement, favorable results of our clinical case report allows us to postulate GDP as an alternative for salvage therapy in these patients.

[Hodgkin lymphoma with hepatic involvement treated with dexametasone, gemcitabine and cisplatin as a bridge to standard therapy: report of one case]. / Linfoma de Hodgkin con compromiso hepático tratado con esquema gemcitabina, dexametasona y cisplatino como puente para terapia estándar: Caso clínico.

The initial presentation of Hodgkin lymphoma with liver involvement is rare. In these patients, the standard first-line therapy with ABVD (Adriamycin, Bleomycine, Vinblastine, Dacarbazine) imply an additional risk for liver toxicity. We report a 64-year-old woman who presented with jaundice, choluria, malaise and weight loss. In the initial evaluation she had jaundice and palpable groin lymph nodes. An obstructive biliary disease was ruled out with magnetic resonance imaging studies. A lymph node biopsy showed a Hodgkins lymphoma, Mixed-cellularity subtype. Considering the liver dysfunction, an alternative scheme of chemotherapy with dexamethasone, gemcitabine and cisplatin (GDP) was administered. After 4 cycles, a significant improvement in liver hepatic function tests was reached and a conventional chemotherapy (ABVD) was begun. While the literature provides some low toxicity protocols for patients with liver involvement, favorable results of our clinical case report allows us to postulate GDP as an alternative for salvage therapy in these patients.

Guía para definición y manejo del dolor neuropático localizado (DNL): consenso chileno / Guidelines for definition and management of localized neuropathic pain (LNP): Chilean consensus

En los últimos años, diversas Guías para el Manejo del Dolor Neuropático (DN) se han elaborado por grupos de expertos en Dolor. La Asociación Chilena para el Estudio del Dolor (ACHED), representada por diversos especialistas, se reunió los días 5 y6 de agosto para elaborar la “Guía para Definición y Manejo del Dolor Neuropático Localizado (DNL): Consenso Chileno”.Utilizando el Método Delphi, se establecieron consensos con respecto a la entidad Dolor Neuropático Localizado (DNL), tanto en su Definición, Diagnóstico, Manejo Farmacológico y No Farmacológico, constituyendo de este modo, cuatro (4) grupos de trabajo; se establecieron asimismo comisiones para Dolor Pediátrico y Procedimientos Intervencionistas. Los principales resultados permiten contar con una definición clara de DNL, innovaciones en su diagnóstico, algoritmos sencillos para su manejo y recomendaciones no farmacológicas de importancia. Esta Guía para la Definición, Diagnóstico y Manejo del DNL será una herramienta de mucha utilidad en la práctica clínica, especialmente para los médicos generales y para la conformación de equipos multidisciplinarios para la mejor atención de los pacientes de DNL. El Consenso, luego de revisar evidencias y por la experiencia clínica de los expertos, recomiendan las terapias tópicas como las más indicadas en tratamiento del DNL.

In recent years, several Guidelines for the Management of Neuropathic Pain (NP) have been developed by groups that specialize in pain. The Chilean Association for the Study of Pain (ACHED), represented by different specialists, met on the5th and 6th of August to develop the Guidelines for Definition and Management of Localized Neuropathic Pain (LNP): Chilean Consensus”. Using the Delphi method, a series of consensus have been established regarding the Localized Neuropathic Pain (LNP) entity, both in its definition, diagnosis, pharmacological and non pharmacological management, thus constituting four (4) workgroups; committees were also established for pediatric pain and interventional procedures. The main results allow us to have a clear definition of LPN, innovations in its diagnosis, simple algorithms for its management and important non-pharmacological recommendations. The Guidelines for Definition and Management of the LNP will be a very useful tool in clinical practice, especially for general practitioners and for the formation of multidisciplinary teams to improve healthcare for LNP patients. The Consensus, after reviewing evidence and clinical experience, recommends topical therapies as the most appropriate treatment in LPN.