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INTRODUCTION: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. OBJECTIVE: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. MATERIALS AND METHODS: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multi-gene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. RESULTS: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). CONCLUSION: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

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RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.

ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

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The local experience and the success rate of different available treatments for difficult biliary stones in Colombia are poorly described. We made an observational study reporting patients treated for difficult biliary stones, at Hospital Universitario San Ignacio in Bogotá, Colombia between January 2015, and November 2021. Clinical characteristics, endoscopic retrograde cholangiopancreatography (ERCP) findings, and outcomes are presented. Additionally, the success rates of Endoscopic Sphincterotomy Plus Large Balloon Dilation (ESLBD), Mechanical Lithotripsy (ML), temporary stenting (TS), cholangioscopy-guided laser lithotripsy (CGLL), and surgery are described. A total of 146 patients were included (median age 69 years, IQR 58.5-78.5, 33.8% men). The median stone diameter was 15 mm (IQR 10 - 18 mm). One stone was presented in 39.9%, two stones in 18.2%, and ≥3 stones in the remaining stone. A 67.6% disproportion rate was observed between the stone and distal common bile duct. Successful stone extraction was achieved in 56.2% in the first procedure, 22.6% in the second, 17.1% in the third, 3.4% in the fourth, and 0.7% in the fifth procedures. The successful extraction rates were 56.8% for ESLBD, 75% for ML, 23.4% for TS, 57.7% for CGLL, and 100% for surgery. Endoscopic management of difficult stones is usually successful, although it usually requires 2 or more ERCPs procedures. The surgical requirements were low. ESLBD is an effective technique unlike TS. Few patients required advanced techniques such as ML or CGLL. Endoscopic procedures are associated with a low rate of complications.

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Introduction: Post-COVID-19 cholangiopathy is a novel condition characterized by biliary tract sclerosis and elevated alkaline phosphatase levels in critically ill patients. This case series aims to describe the experience of a Latin American reference hospital in managing this condition. Methods: This case series includes patients with confirmed coronavirus disease 2019 (COVID-19) who exhibited subsequent elevation of alkaline phosphatase levels exceeding three times the normal value. The patients also had documented bile duct abnormalities observed through cholangioresonance or endoscopic retrograde cholangiopancreatography (ERCP). The clinical presentation, imaging findings, complications, and treatment approaches are described. Results: Eight patients (56.5 ± 9.2 years old, 62.5% male) were included in the study. All patients had previously experienced severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) pneumonia and required mechanical ventilation. Four patients (50%) received sedoanalgesia with ketamine, and all eight patients (100%) received propofol. All patients developed infections, such as cholangitis or liver abscesses, caused by gram-negative bacteria. The peak alkaline phosphatase level during follow-up averaged 1646.12 ± 611.3. Imaging findings revealed intrahepatic (100%) and extrahepatic (87.5%) bile duct dilation. In 75% of cases, bile molds with a black appearance were extracted. Seven patients experienced recurrent cholangitis, and three patients were referred for pre-liver transplant consultation. Conclusions: Post-COVID-19 cholangiopathy is characterized by severe cholestasis, intra- and extrahepatic bile duct dilation, formation of bile molds, and recurrent cholangitis. In our study, a possible association between sepsis caused by gram-negative bacteria and the use of sedative medications is hypothesized. Further studies are necessary to establish the most appropriate management strategies for these patients, as they currently face unfavorable long-term morbidity and mortality outcomes.

Introducción: la colangiopatía pos-COVID-19 es una entidad nueva caracterizada por esclerosis del tracto biliar y elevación de fosfatasa alcalina en el paciente críticamente enfermo. Esta serie de casos describe la experiencia de un hospital de referencia en Latinoamérica. Métodos: serie de casos que incluye a pacientes con enfermedad por coronavirus de 2019 (COVID-19) confirmada y elevación posterior de fosfatasa alcalina > 3 veces del valor normal, asociados a anormalidades en las vías biliares documentada por colangiorresonancia o colangiopancreatografía retrógrada endoscópica (CPRE). Se describe la presentación clínica, hallazgos imagenológicos, complicaciones y tratamiento. Resultados: se incluyeron a 8 pacientes (56,5 ± 9,2 años, 62,5% hombres). Todos presentaron neumonía por coronavirus del síndrome respiratorio agudo grave de tipo 2 (SARS-CoV-2) previo a desarrollo de colangiopatía, y requirieron ventilación mecánica. Cuatro pacientes (50%) recibieron sedoanalgesia con ketamina y ocho (100%) con propofol. Todos presentaron infecciones (colangitis/abscesos hepáticos) por bacterias gramnegativas. El nivel pico de fosfatasa alcalina durante el seguimiento fue en promedio 1646,12 ± 611,3. Los hallazgos imagenológicos incluyeron dilatación de la vía biliar intrahepática (100%) y extrahepática (87,5%). En el 75% se extrajo el molde biliar de apariencia negra. Siete pacientes presentaron recurrencia de colangitis y tres pacientes fueron referidos a consulta de pretrasplante hepático. Conclusiones: la colangiopatía pos-COVID-19 está caracterizada por colestasis grave con dilatación de la vía biliar intra- y extrahepática, formación de moldes biliares y colangitis recurrente. En nuestro estudio se plantea como hipótesis una posible relación con sepsis por bacterias gramnegativas y uso de medicamentos sedativos. Se requieren nuevos estudios para establecer el manejo más adecuado para estos pacientes, que hasta el momento presentan una morbimortalidad desfavorable a largo plazo.

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The local experience and the success rate of different available treatments for dificult biliary stones in Colombia are poorly described. We made an observational study reporting patients treated for dificult biliary stones, at Hospital Universitario San Ignacio in Bogotá, Colombia between January 2015, and November 2021. Clinical characteristics, endoscopic retrograde cholangiopancreatography (ERCP) findings, and outcomes are presented. Additionally, the success rates of Endoscopic Sphincterotomy Plus Large Balloon Dilation (ESLBD), Mechanical Lithotripsy (ML), temporary stenting (TS), cholangioscopy-guided laser lithotripsy (CGLL), and surgery are described. A total of 146 patients were included (median age 69 years, IQR 58.5-78.5, 33.8% men). The median stone diameter was 15 mm (IQR 10 - 18 mm). One stone was presented in 39.9%, two stones in 18.2%, and ≥3 stones in the remaining stone. A 67.6% disproportion rate was observed between the stone and distal common bile duct. Successful stone extraction was achieved in 56.2% in the first procedure, 22.6% in the second, 17.1% in the third, 3.4% in the fourth, and 0.7% in the fifth procedures. The successful extraction rates were 56.8% for ESLBD, 75% for ML, 23.4% for TS, 57.7% for CGLL, and 100% for surgery. Endoscopic management of dificult stones is usually successful, although it usually requires 2 or more ERCPs procedures. The surgical requirements were low. ESLBD is an effective technique unlike TS. Few patients required advanced techniques such as ML or CGLL. Endoscopic procedures are associated with a low rate of complications.

La tasa de éxito de diferentes tratamientos de Cálculo Biliar Difícil (CBD) en Colombia no está descrita. Hemos realizado un estudio descriptivo observacional sobre el tratamiento de CBD en el Hospital Universitario San Ignacio en Bogotá, Colombia entre enero 2015 y noviembre 2021. Se presentan las características clínicas, hallazgos en la Colangiopancreatografía Retrógrada Endoscópica (CPRE) y desenlaces asociados. Adicionalmente, se describe la tasa de éxito de los pacientes tratados mediante esfinterotomía asociada a dilatación endoscópica con balón grande (EDEBG), litotripsia mecánica (LM), stent temporal (ST), litotripsia con láser guiada por colangioscopia (LLGC) y cirugía. 146 pacientes fueron incluidos (Mediana de edad 69 años, RIC 58,6-78,5). 33,8% eran hombres. La mediana del tamaño del CBD fue de 15 mm (RIC 10-18 mm). 39,9% tenían un solo cálculo, 18,2% tenían 2 y el resto ≥3 cálculos. 67,6% tenían desproporción entre el cálculo y el colédoco distal. La extracción exitosa se logró en 56,2% en el primer procedimiento, 22,6% en el segundo, 17,1% en el tercero, 3,4% en el cuarto y 0,7% en el quinto procedimiento. La tasa de extracción exitosa fue de 56,8% con EDEBG, 75% con LM, 23,4% con ST, 57,7% con LLGC y 100% con cirugía. El manejo endoscópico del CBD es usualmente exitoso. Sin embargo, requiere usualmente ≥2 CPRE. El tratamiento quirúrgico no es común. EDEBG es una técnica efectiva a diferencia del ST. Pocos pacientes requirieron técnicas avanzadas como LM o LLGC. Los métodos endoscópicos presentan una baja tasa de complicaciones.

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Inflammatory bowel disease (IBD) comprises a spectrum of chronic immune-mediated diseases that affect the gastrointestinal tract. Onset typically occurs in early adulthood. The incidence of this disease has increased worldwide. Its prevalence has increased in Colombia and occurs predominantly in women. Considering that this disease is not curable, the main objective of management is to achieve remission. Many women are affected by IBD during different stages of their lives, including their reproductive life, pregnancy, and menopause. Because of this, the way the disease is managed in women of reproductive age can affect the course of IBD. Treatment and health maintenance strategies are very relevant; for patients with a desire to conceive, remission of the disease is very important at the time of conception and throughout the pregnancy to ensure adequate outcomes for both mother and fetus. Also, remission is necessary at least 3 months prior to conception. It is well known that active disease during conception and pregnancy is associated with adverse outcomes. In addition, active perianal disease is an indication of cesarean delivery, resulting in an increased risk of intestinal surgery and post-operative complications.

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INTRODUCTION: Grading dysphagia is crucial for clinical management of patients. The Eckardt score (ES) is the most commonly used for this purpose. We aimed to compare the ES with the recently developed Brief Esophageal Dysphagia Questionnaire (BEDQ) in terms of their correlation and discriminative capacity for clinical and manometric findings and evaluate the effect of gastroesophageal reflux symptoms on both. METHODS: Symptomatic patients referred for high-resolution manometry (HRM) were prospectively recruited from seven centers in Spain and Latin America. Clinical data and several scores (ES, BEDQ, GERDQ) were collected and contrasted to HRM findings. Standard statistical analysis was performed. KEY RESULTS: 426 patients were recruited, 31.2% and 41.5% being referred exclusively for dysphagia and GERD symptoms, respectively. Both BEDQ and ES were independently associated with achalasia. Only BEDQ was independently associated with being referred for dysphagia and with relevant HRM findings. ROC curve analysis for achalasia diagnosis showed AUC of 0.809 for BEDQ and 0.765 for ES, with the main difference being higher BEDQ sensitivity (80.0% vs 70.8% for ES). GERDQ independently predicted ES but not BEDQ. In the absence of dysphagia (BEDQ = 0), GERD symptoms significantly determine ES. CONCLUSIONS AND INFERENCES: Our study suggests both the BEDQ and ES can complementarily describe symptomatic burden in achalasia. BEDQ has several advantages over the ES in the dysphagia evaluation, basically due to its higher sensitivity for manometric diagnosis and independence of GERD symptoms. ES should be used as an achalasia-specific metric, while BEDQ is a better symptom-generic evaluating tool.

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Resumen Introducción: La enfermedad por reflujo gastroesofágico (ERGE) refractaria puede conducir a complicaciones potenciales como la esofagitis persistente, estenosis esofágica, anillo de Schatzki y esófago de Barrett. Este estudio describe la motilidad en pacientes con ERGE refractaria y su relación con síntomas esofágicos. Método: Se realizó un estudio observacional analítico a partir de una cohorte retrospectiva en pacientes con diagnóstico de ERGE refractaria y síntomas esofágicos a quienes se les realizó manometría esofágica de alta resolución más impedanciometría. Se describen las características clínicas y demográficas, y la asociación entre los trastornos manométricos y los síntomas esofágicos. Resultados: Se incluyeron 133 pacientes (edad promedio: 54,1 ± 12,5 años). La pirosis y regurgitación (69,2 %) y la disfagia esofágica (13,5 %) fueron los síntomas más comunes. La motilidad normal (75,2 %), el aclaramiento completo del bolo (75,2 %) y la motilidad esofágica inefectiva (MEI) (18 %) fueron los hallazgos manométricos más frecuentes. La unión gastroesofágica tipos II y IIIb estuvieron presentes en el 35,3% y 33,8 % de los casos, respectivamente. La aperistalsis (3,8 %) y el esófago en martillo neumático (Jackhammer; 0,8 %) fueron infrecuentes. El aclaramiento incompleto del bolo se asoció con disfagia esofágica (p = 0,038) y a MEI (p = 0,008). Ningún síntoma esofágico se relacionó significativamente con trastornos de motilidad. Conclusiones: Los resultados de nuestro estudio sugieren que los trastornos de motilidad son infrecuentes en los pacientes con ERGE refractaria. Adicionalmente, sugieren que la presencia de alteraciones de motilidad esofágica no se relaciona con la presencia de síntomas esofágicos y, por tanto, que el tipo de síntoma presentado no permite predecir la existencia de dichos trastornos.

Abstract Introduction: Refractory gastroesophageal reflux disease (GERD) can lead to potential complications such as persistent esophagitis, esophageal stricture, Schatzki ring, and Barrett's esophagus. This study describes motility in patients with refractory GERD, and its association with esophageal symptoms. Materials and methods: An analytical observational study was carried out in a retrospective cohort of patients diagnosed with refractory GERD and esophageal symptoms who underwent high-resolution esophageal manometry and impedance testing. Clinical characteristics, demographics, and the association between motility disorders and esophageal symptoms are described. Results: 133 patients were included (mean age 54.1 ± 12.5 years). Heartburn and regurgitation (69.2%), and esophageal dysphagia (13.5%) were the most common symptoms. Normal motility (75.2%), complete bolus clearance (75.2%), and ineffective esophageal motility (IEM) (18%) were the most frequent manometric findings. Type II and IIIb gastroesophageal junction were observed in 35.3% and 33.8% of the cases, respectively. Esophageal aperistalsis (3.8%) and Jackhammer esophagus (0.8%) were rare findings. Incomplete bolus clearance was associated with esophageal dysphagia (p=0.038) and IEM (p=0.008). No esophageal symptoms were significantly related to motility disorders. Conclusions: The results of the present study suggest that motility disorders are rare in patients with refractory GERD. They also suggest that esophageal motility disorders are not associated with the presence of esophageal symptoms and, therefore, the type of symptom experienced does not allow predicting the existence of such disorders.

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Resumen La enfermedad por reflujo gastroesofágico (ERGE) se define como el tránsito anormal del contenido gástrico hacia el esófago, que se da por una alteración de la barrera antirreflujo, causando síntomas o complicaciones. Para su correcto diagnóstico y abordaje terapéutico, se requiere de la integración de hallazgos clínicos, endoscópicos y monitorización del pH esofágico en 24 horas con o sin impedanciometría, la cual debe ser realizada con especificaciones técnicas, y su interpretación debe basarse en la mejor evidencia clínica disponible, con el objetivo de tener diagnósticos precisos que permitan tomar las mejores decisiones con los pacientes. Recientemente, en el Consenso de Lyon se han incorporado nuevas directrices para el diagnóstico de ERGE por monitorización de pH esofágico, las cuales se revisan en este artículo.

Abstract Gastroesophageal reflux disease (GERD) is defined as the abnormal transit of gastric contents into the esophagus. It is caused by an alteration of the anti-reflux barrier, causing multiple symptoms or complications. In order to achieve accurate diagnosis and proper therapeutic approach, integration of clinical findings, endoscopic findings and 24-hour esophageal pH monitoring, with or without impedancometry, is required. These tests must be performed following technical specifications and their interpretation must be based on the best clinical evidence available to obtain accurate diagnoses that allow making the best decisions to the benefit of patients. Recently, the Lyon Consensus incorporated new guidelines for the diagnosis of GERD by esophageal pH monitoring, which are reviewed in this paper.

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BACKGROUND: Anxiety is a significant modulator of sensitivity along the GI tract. The recently described Esophageal Hypervigilance and Anxiety Score (EHAS) evaluates esophageal-specific anxiety. The aims of this study were as follows: 1. translate and validate an international Spanish version of EHAS. 2. Evaluate its psychometric properties in a large Hispano-American sample of symptomatic individuals. METHODS: A Spanish EHAS version was developed by a Delphi process and reverse translation. Patients referred for high-resolution manometry (HRM) were recruited prospectively from seven Spanish and Latin American centers. Several scores were used: EHAS, Hospital Anxiety and Depression Scale (HADS), Eckardt score (ES), Gastroesophageal Reflux Questionnaire (GERDQ), and the Brief Esophageal Dysphagia Questionnaire (BEDQ). Standardized psychometric analyses were performed. KEY RESULTS: A total of 443 patients were recruited. Spanish EHAS showed excellent reliability (Cronbach´s alpha = 0.94). Factor analysis confirmed the presence of two factors, corresponding to the visceral anxiety and hypervigilance subscales. Sufficient convergent validity was shown by moderate significant correlations between EHAS and other symptomatic scores. Patients with high EHAS scores had significantly more dysphagia. There was no difference in EHAS scores when compared normal vs abnormal or major manometric diagnosis. CONCLUSIONS AND INFERENCES: A widely usable Spanish EHAS version has been validated. We confirm its excellent psychometric properties in our patients, confirming the appropriateness of its use in different populations. Our findings support the appropriateness of evaluating esophageal anxiety across the whole manometric diagnosis spectrum.

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